11 Temmuz 2012 Çarşamba
Listen to Your Kids Because Talking to Them About Drugs Doesn't Always Work
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10 Temmuz 2012 Salı
9 Temmuz 2012 Pazartesi
Group B Strep Infection
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Group B streptococcus (GBS) is a type of bacterial infection that can be found in a pregnant woman’s vagina or rectum. This bacteria is normally found in the vagina and/or lower intestine of 15% to 40% of all healthy, adult women.
Those women who test positive for GBS are said to be colonized. A mother can pass GBS to her baby during delivery. GBS is responsible for affecting about 1 in every 2,000 babies in the United States. Not every baby who is born to a mother who tests positive for GBS will become ill.
Although GBS is rare in pregnant women, the outcome can be severe, and therefore physicians include testing as a routine part of prenatal care.
The test involves a swab of both the vagina and the rectum. The sample is then taken to a lab where a culture is analyzed for any presence of GBS. Test results are usually available within 24 to 48 hours.
The American Academy of Pediatrics recommends that all women who have risk factors PRIOR to being screened for GBS (for example, women who have preterm labor beginning prior to 37 completed weeks' gestation) are treated with IV antibiotics until their GBS status is established.
According to the CDC, if you have tested positive and are not in the high risk category, then your chances of delivering a baby with GBS are:
For women who are group B strep carriers, antibiotics before labor starts are not a good way to get rid of group B strep bacteria. Since they naturally live in the gastrointestinal tract (guts), the bacteria can come back after antibiotics. A woman may test positive at certain times and not at others. That’s why it is important for all pregnant women to be tested for group B strep between 35 to 37 weeks of every pregnancy.
If you are at a low risk, the decision to use antibiotics is up to you. There are herbal remedies that you can take 2-3 weeks before delivery that a midwife or homeopathic physician can recommend.
The signs and symptoms of early onset GBS include:
The signs and symptoms of late-onset GBS include:
If I test positive for GBS does that mean my baby is going to get it also? No. Approximately 1 of every 100-200 babies who are born to mothers who carry GBS will become ill.
What percentage of babies born to mothers with GBS will actually become ill? Approximately 1 of every 100-200 babies born to mothers with GBS will become ill. However, there are certain symptoms that put a mother at a higher risk than others.
What can I do to prevent my baby from getting GBS disease? Intravenous antibiotics (antibiotics given through IV) are recommended during delivery to reduce the chance of your baby becoming sick.
Do I have to take antibiotics, or is there a natural alternative? It is your choice if you want to take antibiotics. There are certain herbal methods that you can take 2-3 weeks before delivery that a midwife or homeopathic physician can provide for you.
Is Group B Strep related to strep throat? No, the two are not related.
Can a woman who tests positive take oral antibiotics before delivery? Treating the mother with oral antibiotics during the pregnancy may decrease the amount of GBS for a short time, but it will not eliminate the bacteria completely and will leave the baby unprotected at birth. Also, waiting to treat the baby with antibiotics after birth is often too late to prevent illness.
Are antibiotics safe for the baby? Penicillin (Category B) is commonly used during pregnancy in non-allergic patients. There are substitute drugs for those who are allergic to penicillin, but they could still experience an allergic reaction. It is best to discuss the pros and cons with your health care provider.
Those women who test positive for GBS are said to be colonized. A mother can pass GBS to her baby during delivery. GBS is responsible for affecting about 1 in every 2,000 babies in the United States. Not every baby who is born to a mother who tests positive for GBS will become ill.
Although GBS is rare in pregnant women, the outcome can be severe, and therefore physicians include testing as a routine part of prenatal care.
How can I find out if I have Group B Strep infection?
The Centers for Disease Control and Prevention (CDC) has recommended routine screening for vaginal strep B for all pregnant women. This screening is performed between the 35th and 37th week of pregnancy (anytime other than this time will not be significant to show if a woman is carrying GBS during the time of her delivery).The test involves a swab of both the vagina and the rectum. The sample is then taken to a lab where a culture is analyzed for any presence of GBS. Test results are usually available within 24 to 48 hours.
The American Academy of Pediatrics recommends that all women who have risk factors PRIOR to being screened for GBS (for example, women who have preterm labor beginning prior to 37 completed weeks' gestation) are treated with IV antibiotics until their GBS status is established.
How does someone get group B strep?
The bacteria that causes group B strep normally lives in the intestine, vagina, or rectal areas. Group B strep colonization is not a sexually transmitted disease (STD). Approximately 15-40% of all healthy women carry group B strep bacteria. For most women there are no symptoms of carrying the GBS bacteria.What if I test positive for Group B Strep infection?
If you test positive for GBS this simply means that you are a carrier. Not every baby who is born to a mother who tests positive for GBS will become ill. Approximately one of every 100 to 200 babies whose mothers carry GBS will develop signs and symptoms of GBS disease. There are, however, symptoms that may indicate that you are at a higher risk of delivering a baby with GBS. These symptoms include:- Labor or rupture of membrane before 37 weeks
- Rupture of membrane 18 hours or more before delivery
- Fever during labor
- A urinary tract infection as a result of GBS during your pregnancy
- A previous baby with GBS disease
According to the CDC, if you have tested positive and are not in the high risk category, then your chances of delivering a baby with GBS are:
- 1 in 200 if antibiotics are not given
- 1 in 4000 if antibiotics are given
How can I protect my baby from Group B Strep infection?
If you test positive for GBS and meet the high risk criteria, then your physician will recommend giving you antibiotics through IV during your delivery to prevent your baby from becoming ill. Taking antibiotics greatly decreases the chances of your baby becoming ill.For women who are group B strep carriers, antibiotics before labor starts are not a good way to get rid of group B strep bacteria. Since they naturally live in the gastrointestinal tract (guts), the bacteria can come back after antibiotics. A woman may test positive at certain times and not at others. That’s why it is important for all pregnant women to be tested for group B strep between 35 to 37 weeks of every pregnancy.
If you are at a low risk, the decision to use antibiotics is up to you. There are herbal remedies that you can take 2-3 weeks before delivery that a midwife or homeopathic physician can recommend.
How does Group B Strep infection affect a newborn baby?
Babies may experience early or late-onset of GBS.The signs and symptoms of early onset GBS include:
- Signs and symptoms occurring within hours of delivery
- Breathing problems, heart and blood pressure instability
- Gastrointestinal and kidney problems
- Sepsis, pneumonia and meningitis are the most common complications
The signs and symptoms of late-onset GBS include:
- Signs and symptoms occurring within a week or a few months of delivery
- Meningitis is the most common symptom
- Late-onset GBS is not as common as early-onset
Frequently Asked Questions:
How serious is GBS? GBS can cause bladder infections and womb infections for the mother. In some cases GBS can cause stillbirth. Newborns can get meningitis, sepsis, and pneumonia.If I test positive for GBS does that mean my baby is going to get it also? No. Approximately 1 of every 100-200 babies who are born to mothers who carry GBS will become ill.
What percentage of babies born to mothers with GBS will actually become ill? Approximately 1 of every 100-200 babies born to mothers with GBS will become ill. However, there are certain symptoms that put a mother at a higher risk than others.
What can I do to prevent my baby from getting GBS disease? Intravenous antibiotics (antibiotics given through IV) are recommended during delivery to reduce the chance of your baby becoming sick.
Do I have to take antibiotics, or is there a natural alternative? It is your choice if you want to take antibiotics. There are certain herbal methods that you can take 2-3 weeks before delivery that a midwife or homeopathic physician can provide for you.
Is Group B Strep related to strep throat? No, the two are not related.
Can a woman who tests positive take oral antibiotics before delivery? Treating the mother with oral antibiotics during the pregnancy may decrease the amount of GBS for a short time, but it will not eliminate the bacteria completely and will leave the baby unprotected at birth. Also, waiting to treat the baby with antibiotics after birth is often too late to prevent illness.
Are antibiotics safe for the baby? Penicillin (Category B) is commonly used during pregnancy in non-allergic patients. There are substitute drugs for those who are allergic to penicillin, but they could still experience an allergic reaction. It is best to discuss the pros and cons with your health care provider.
Waardenburg's Syndrome
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What is Waardenburg syndrome?
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.
How common is Waardenburg syndrome?Waardenburg syndrome affects an estimated 1 in 10,000 to 20,000 people. In schools for the deaf, 2 percent to 3 percent of students have this condition. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.
What genes are related to Waardenburg syndrome?
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome.
The genes that cause Waardenburg syndrome are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.
Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II Waardenburg syndrome.
Mutations in the SOX10, EDN3, or EDNRB genes cause type IV Waardenburg syndrome. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.
How do people inherit Waardenburg syndrome?
Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.
Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Full article here.
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.
How common is Waardenburg syndrome?Waardenburg syndrome affects an estimated 1 in 10,000 to 20,000 people. In schools for the deaf, 2 percent to 3 percent of students have this condition. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.
What genes are related to Waardenburg syndrome?
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome.
The genes that cause Waardenburg syndrome are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.
Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II Waardenburg syndrome.
Mutations in the SOX10, EDN3, or EDNRB genes cause type IV Waardenburg syndrome. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.
How do people inherit Waardenburg syndrome?
Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.
Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Full article here.
Heroin's Gone, For Now
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My daughter is now clean and I mean really clean. She's like an angry ex-smoker on steriods. She's not on prozac and she's weaned herself off the seboxone. She reduced her dose for a couple of weeks, walked around for a couple of days with cramping legs and then she was over it. Now, she's like a bull in a china shop-everyday's a bad day. She's gained about 30 pounds and feels like everyone's looking at her because she's fat. She's not fat she's normal. She actually looks like a normal, healthy girl...not a heroin-bloated, acne, sores, bruises, skin and bones addict. I wanted to say to her "Geez, did you ever worry about people looking at you when you were nodding off, or when you didn't wash your hair or change your clothes?" But I don't...I just tell her she looks great! I don't really know what to say to her...she's miserable. Nothing makes her happy...nothing makes her laugh...I wish she was happy I really do. Can recovering addicts be happy normally? I'm going to take her back to her psychiatrist maybe he'll try something besides prozac. Any ideas?
Listen to Your Kids Because Talking to Them About Drugs Doesn't Always Work
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We talk to our kids about drugs and it just doesn't seem to have any impact. Why? They have the attitude that they won't get into a car accident if they drive fast, they won't get pregnant if they have sex, they won't get addicted if they use heroin.... This "invincible teen attitude" is part of normal brain development. Their brains or specifically the prefrontal cortex is not developed yet. So, that proves that our teenagers are acting without a brain or at least the front part. The brains front section is responsible for considering risks and it helps us stop doing something if it's too risky. Since, this part of the brain is still developing in teens some of the wiring is not intact...the stop/go wiring. This creates a serious problem for parents but yet also gives of a sense of why teens act the way they do. Using drugs when we told them how dangerous they are...is not defiance, its not rebellion — its their brain! They do not comprehend the consequences of drug addiction at all!
So what are we as parents supposed to do to keep our children away from drugs — when they're operating without an fully functional brain? Researchers have been trying to find out why ...risk factors such as genetics, mental illness [anxiety, depression or mood illness], early use of drugs, social environment, and childhood trauma seem to be recognized as the main risk factors.
In hindsight, I can identify that "social anxiety" was the main factor in my daughters heroin addiction and it started in middle school. All I can say is listen to your kids....I mean really listen. If they say "I don't want to go to school"...find out why. Ask as many questions as you can to find out what's really bothering them-don't just shrug if off as I did and respond by saying, "schools hard, sometimes you have to do things you don't want to do." Some children don't know how to handle anxiety...and if you don't help them find ways to cope with their feelings then they find ways to cope on their own — and sometimes they find heroin.
So, listen to your kids because talking to them doesn't always work.
So what are we as parents supposed to do to keep our children away from drugs — when they're operating without an fully functional brain? Researchers have been trying to find out why ...risk factors such as genetics, mental illness [anxiety, depression or mood illness], early use of drugs, social environment, and childhood trauma seem to be recognized as the main risk factors.
In hindsight, I can identify that "social anxiety" was the main factor in my daughters heroin addiction and it started in middle school. All I can say is listen to your kids....I mean really listen. If they say "I don't want to go to school"...find out why. Ask as many questions as you can to find out what's really bothering them-don't just shrug if off as I did and respond by saying, "schools hard, sometimes you have to do things you don't want to do." Some children don't know how to handle anxiety...and if you don't help them find ways to cope with their feelings then they find ways to cope on their own — and sometimes they find heroin.
So, listen to your kids because talking to them doesn't always work.
8 Temmuz 2012 Pazar
Lyme Disease: Gestational and Congenital
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In 263 recent reported cases, 25% resulted in adverse outcomes: 8% resulted in fetal death and 2% in neonatal death. Fifteen percent of the babies were liveborn but were ill or had an abnormality. The effect of antibiotic therapy was dramatic in these patients: with antibiotics, 85% of neonates were normal, while 15% had an adverse outcome. In striking contrast, without antibiotics, only 33% were normal, while 67% had an adverse outcome. The conclusion: Proper, prompt diagnosis and antibiotic therapy are vital for healthy neonates born with congenital Lyme disease.
However, it can be quite difficult to recognize such a rare disease. The differential diagnosis is extensive and includes sepsis/meningoencephalitis (bacterial or viral), other congenital infectious diseases (eg, syphilis, leptospirosis, relapsing fever, toxoplasmosis), congenital heart or bone disease, inherited or infectious immunodeficiency, sudden infant death syndrome, and more. A history suggestive of Lyme disease in the mother or positive serologic or other tests for B burgdorferi can suggest the diagnosis. One interesting radiologic clue is "celery stalking" -- lucent metaphyseal bands -- on the long bones of the neonate. These are occasionally seen in infants with gestational syphilis or viral infections. In 2 neonates treated, the bands disappeared shortly after treatment.
The prognosis for gestational Lyme disease is good if diagnosed and treated adequately. The prognosis for neonates with early congenital Lyme disease depends on prompt diagnosis, especially in severe early cases. Similarly, the prognosis in late congenital Lyme depends not only on prompt diagnosis and treatment, but also on the extent of irreversible damage present at the time of diagnosis. Long-term follow-up is important for detecting possible recurrence of disease.
Full article here.
Gestational and Congenital Lyme Disease
How rare are these conditions? According to published figures, 16,000-17,000 cases of Lyme disease are reported each year in the United States. Roughly 8000 cases are in women, and approximately 1200-3400 cases are in women of childbearing age (20-49 years old). If you assume that one quarter of the women in the child-bearing age group are pregnant (a gross overestimate), and that 10% are either untreated or inadequately treated, and that one fifth transmit the organism to the fetus or newborn, this calculates to approximately 40 cases of congenital Lyme disease a year in the United States. It would be unusual for any large city to have more than 1 or 2 cases a year, and it would be extremely rare for any physician to see more than a few cases in a lifetime.In 263 recent reported cases, 25% resulted in adverse outcomes: 8% resulted in fetal death and 2% in neonatal death. Fifteen percent of the babies were liveborn but were ill or had an abnormality. The effect of antibiotic therapy was dramatic in these patients: with antibiotics, 85% of neonates were normal, while 15% had an adverse outcome. In striking contrast, without antibiotics, only 33% were normal, while 67% had an adverse outcome. The conclusion: Proper, prompt diagnosis and antibiotic therapy are vital for healthy neonates born with congenital Lyme disease.
However, it can be quite difficult to recognize such a rare disease. The differential diagnosis is extensive and includes sepsis/meningoencephalitis (bacterial or viral), other congenital infectious diseases (eg, syphilis, leptospirosis, relapsing fever, toxoplasmosis), congenital heart or bone disease, inherited or infectious immunodeficiency, sudden infant death syndrome, and more. A history suggestive of Lyme disease in the mother or positive serologic or other tests for B burgdorferi can suggest the diagnosis. One interesting radiologic clue is "celery stalking" -- lucent metaphyseal bands -- on the long bones of the neonate. These are occasionally seen in infants with gestational syphilis or viral infections. In 2 neonates treated, the bands disappeared shortly after treatment.
The prognosis for gestational Lyme disease is good if diagnosed and treated adequately. The prognosis for neonates with early congenital Lyme disease depends on prompt diagnosis, especially in severe early cases. Similarly, the prognosis in late congenital Lyme depends not only on prompt diagnosis and treatment, but also on the extent of irreversible damage present at the time of diagnosis. Long-term follow-up is important for detecting possible recurrence of disease.
Full article here.
Waardenburg's Syndrome
To contact us Click HERE
What is Waardenburg syndrome?
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.
How common is Waardenburg syndrome?Waardenburg syndrome affects an estimated 1 in 10,000 to 20,000 people. In schools for the deaf, 2 percent to 3 percent of students have this condition. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.
What genes are related to Waardenburg syndrome?
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome.
The genes that cause Waardenburg syndrome are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.
Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II Waardenburg syndrome.
Mutations in the SOX10, EDN3, or EDNRB genes cause type IV Waardenburg syndrome. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.
How do people inherit Waardenburg syndrome?
Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.
Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Full article here.
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.
How common is Waardenburg syndrome?Waardenburg syndrome affects an estimated 1 in 10,000 to 20,000 people. In schools for the deaf, 2 percent to 3 percent of students have this condition. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.
What genes are related to Waardenburg syndrome?
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome.
The genes that cause Waardenburg syndrome are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.
Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II Waardenburg syndrome.
Mutations in the SOX10, EDN3, or EDNRB genes cause type IV Waardenburg syndrome. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.
How do people inherit Waardenburg syndrome?
Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.
Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Full article here.
Meckel's Diverticulum
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A Meckel’s diverticulum is a small pouch of tissue on the intestine (bowel). It forms when the baby is still growing in the womb. A Meckel’s diverticulum may bleed. It may also become infected. In either case, it must be removed.
What Are the Symptoms of Meckel’s Diverticulum?
Many people with a Meckel’s diverticulum never have symptoms. When a problem does occur, it’s often around age 2. The most common signs of a problem include:
How Is Meckel’s Diverticulum Diagnosed?
Most Meckel’s aren’t found unless they cause symptoms. If a Meckel’s is suspected, tests that may be done include:
How Is a Meckel’s Diverticulum Treated?
If the child has no symptoms, treatment might not be needed. But if the Meckel’s diverticulum is causing symptoms, it will likely be removed with surgery.
What Are the Long-Term Concerns?
Unless it causes symptoms, a Meckel’s usually isn’t a problem. Once the diverticulum is removed, most children have no further symptoms.
What Are the Symptoms of Meckel’s Diverticulum?
Many people with a Meckel’s diverticulum never have symptoms. When a problem does occur, it’s often around age 2. The most common signs of a problem include:
- Blood in stool
- Anemia (a health problem due to blood loss).
- Signs of infection (fever, chills, or pain or tenderness in the abdomen)
How Is Meckel’s Diverticulum Diagnosed?
Most Meckel’s aren’t found unless they cause symptoms. If a Meckel’s is suspected, tests that may be done include:
- Blood tests: These check for signs of bleeding or infection.
- Stool sample: This may be taken to check for blood.
- Meckel’s scan: A special dye is injected into the child’s bloodstream through an IV (intravenous) line. This dye may make the Meckel’s tissue show up on a scan.
- Ultrasound: This test uses sound waves to make images. In some cases, a Meckel’s can be seen on an ultrasound image.
- Other tests: Imaging tests such as an x-ray or CT scan may be done to rule out other problems.
How Is a Meckel’s Diverticulum Treated?
If the child has no symptoms, treatment might not be needed. But if the Meckel’s diverticulum is causing symptoms, it will likely be removed with surgery.
What Are the Long-Term Concerns?
Unless it causes symptoms, a Meckel’s usually isn’t a problem. Once the diverticulum is removed, most children have no further symptoms.
Heroin's Gone, For Now
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My daughter is now clean and I mean really clean. She's like an angry ex-smoker on steriods. She's not on prozac and she's weaned herself off the seboxone. She reduced her dose for a couple of weeks, walked around for a couple of days with cramping legs and then she was over it. Now, she's like a bull in a china shop-everyday's a bad day. She's gained about 30 pounds and feels like everyone's looking at her because she's fat. She's not fat she's normal. She actually looks like a normal, healthy girl...not a heroin-bloated, acne, sores, bruises, skin and bones addict. I wanted to say to her "Geez, did you ever worry about people looking at you when you were nodding off, or when you didn't wash your hair or change your clothes?" But I don't...I just tell her she looks great! I don't really know what to say to her...she's miserable. Nothing makes her happy...nothing makes her laugh...I wish she was happy I really do. Can recovering addicts be happy normally? I'm going to take her back to her psychiatrist maybe he'll try something besides prozac. Any ideas?
Listen to Your Kids Because Talking to Them About Drugs Doesn't Always Work
To contact us Click HERE
We talk to our kids about drugs and it just doesn't seem to have any impact. Why? They have the attitude that they won't get into a car accident if they drive fast, they won't get pregnant if they have sex, they won't get addicted if they use heroin.... This "invincible teen attitude" is part of normal brain development. Their brains or specifically the prefrontal cortex is not developed yet. So, that proves that our teenagers are acting without a brain or at least the front part. The brains front section is responsible for considering risks and it helps us stop doing something if it's too risky. Since, this part of the brain is still developing in teens some of the wiring is not intact...the stop/go wiring. This creates a serious problem for parents but yet also gives of a sense of why teens act the way they do. Using drugs when we told them how dangerous they are...is not defiance, its not rebellion — its their brain! They do not comprehend the consequences of drug addiction at all!
So what are we as parents supposed to do to keep our children away from drugs — when they're operating without an fully functional brain? Researchers have been trying to find out why ...risk factors such as genetics, mental illness [anxiety, depression or mood illness], early use of drugs, social environment, and childhood trauma seem to be recognized as the main risk factors.
In hindsight, I can identify that "social anxiety" was the main factor in my daughters heroin addiction and it started in middle school. All I can say is listen to your kids....I mean really listen. If they say "I don't want to go to school"...find out why. Ask as many questions as you can to find out what's really bothering them-don't just shrug if off as I did and respond by saying, "schools hard, sometimes you have to do things you don't want to do." Some children don't know how to handle anxiety...and if you don't help them find ways to cope with their feelings then they find ways to cope on their own — and sometimes they find heroin.
So, listen to your kids because talking to them doesn't always work.
So what are we as parents supposed to do to keep our children away from drugs — when they're operating without an fully functional brain? Researchers have been trying to find out why ...risk factors such as genetics, mental illness [anxiety, depression or mood illness], early use of drugs, social environment, and childhood trauma seem to be recognized as the main risk factors.
In hindsight, I can identify that "social anxiety" was the main factor in my daughters heroin addiction and it started in middle school. All I can say is listen to your kids....I mean really listen. If they say "I don't want to go to school"...find out why. Ask as many questions as you can to find out what's really bothering them-don't just shrug if off as I did and respond by saying, "schools hard, sometimes you have to do things you don't want to do." Some children don't know how to handle anxiety...and if you don't help them find ways to cope with their feelings then they find ways to cope on their own — and sometimes they find heroin.
So, listen to your kids because talking to them doesn't always work.
7 Temmuz 2012 Cumartesi
Heroin's Gone, For Now
To contact us Click HERE
My daughter is now clean and I mean really clean. She's like an angry ex-smoker on steriods. She's not on prozac and she's weaned herself off the seboxone. She reduced her dose for a couple of weeks, walked around for a couple of days with cramping legs and then she was over it. Now, she's like a bull in a china shop-everyday's a bad day. She's gained about 30 pounds and feels like everyone's looking at her because she's fat. She's not fat she's normal. She actually looks like a normal, healthy girl...not a heroin-bloated, acne, sores, bruises, skin and bones addict. I wanted to say to her "Geez, did you ever worry about people looking at you when you were nodding off, or when you didn't wash your hair or change your clothes?" But I don't...I just tell her she looks great! I don't really know what to say to her...she's miserable. Nothing makes her happy...nothing makes her laugh...I wish she was happy I really do. Can recovering addicts be happy normally? I'm going to take her back to her psychiatrist maybe he'll try something besides prozac. Any ideas?
Listen to Your Kids Because Talking to Them About Drugs Doesn't Always Work
To contact us Click HERE
We talk to our kids about drugs and it just doesn't seem to have any impact. Why? They have the attitude that they won't get into a car accident if they drive fast, they won't get pregnant if they have sex, they won't get addicted if they use heroin.... This "invincible teen attitude" is part of normal brain development. Their brains or specifically the prefrontal cortex is not developed yet. So, that proves that our teenagers are acting without a brain or at least the front part. The brains front section is responsible for considering risks and it helps us stop doing something if it's too risky. Since, this part of the brain is still developing in teens some of the wiring is not intact...the stop/go wiring. This creates a serious problem for parents but yet also gives of a sense of why teens act the way they do. Using drugs when we told them how dangerous they are...is not defiance, its not rebellion — its their brain! They do not comprehend the consequences of drug addiction at all!
So what are we as parents supposed to do to keep our children away from drugs — when they're operating without an fully functional brain? Researchers have been trying to find out why ...risk factors such as genetics, mental illness [anxiety, depression or mood illness], early use of drugs, social environment, and childhood trauma seem to be recognized as the main risk factors.
In hindsight, I can identify that "social anxiety" was the main factor in my daughters heroin addiction and it started in middle school. All I can say is listen to your kids....I mean really listen. If they say "I don't want to go to school"...find out why. Ask as many questions as you can to find out what's really bothering them-don't just shrug if off as I did and respond by saying, "schools hard, sometimes you have to do things you don't want to do." Some children don't know how to handle anxiety...and if you don't help them find ways to cope with their feelings then they find ways to cope on their own — and sometimes they find heroin.
So, listen to your kids because talking to them doesn't always work.
So what are we as parents supposed to do to keep our children away from drugs — when they're operating without an fully functional brain? Researchers have been trying to find out why ...risk factors such as genetics, mental illness [anxiety, depression or mood illness], early use of drugs, social environment, and childhood trauma seem to be recognized as the main risk factors.
In hindsight, I can identify that "social anxiety" was the main factor in my daughters heroin addiction and it started in middle school. All I can say is listen to your kids....I mean really listen. If they say "I don't want to go to school"...find out why. Ask as many questions as you can to find out what's really bothering them-don't just shrug if off as I did and respond by saying, "schools hard, sometimes you have to do things you don't want to do." Some children don't know how to handle anxiety...and if you don't help them find ways to cope with their feelings then they find ways to cope on their own — and sometimes they find heroin.
So, listen to your kids because talking to them doesn't always work.
5 Temmuz 2012 Perşembe
Omphalitis
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Omphalitis
After birth, the umbilical cord falls off between 2-3 weeks. The mechanism of sepaparation includes necrosis, granulocyte invasion, infarction, drying, and collangenase activity. On the second day of life, there are usually polymorphonuclear cells and bacteria present on the umbilicus. The PMNs play some role in cord separation and there may be a delay of separation if there are chemotactic defects of these cells.(leukocyte adhesion deficiency LAD) Delay of separation of the cord in healthy neonates may be caused by urachal anomalies
The cord is colonized by organism from the vagina and caretakers' hands. The organisms most often cultured include:
Diagnosis
After birth, the umbilical cord falls off between 2-3 weeks. The mechanism of sepaparation includes necrosis, granulocyte invasion, infarction, drying, and collangenase activity. On the second day of life, there are usually polymorphonuclear cells and bacteria present on the umbilicus. The PMNs play some role in cord separation and there may be a delay of separation if there are chemotactic defects of these cells.(leukocyte adhesion deficiency LAD) Delay of separation of the cord in healthy neonates may be caused by urachal anomalies
The cord is colonized by organism from the vagina and caretakers' hands. The organisms most often cultured include:
- Staphylococcus aureus
- Streptococcus pyogenes
- Group B strep
- Gram negative organisms.
Diagnosis
- Presence of inflammation of tissues surrounding the cord associated with redness, swelling, and tenderness. In certain instances, bullous impetigo lesions may be present too. There may be associated systemic symptoms such as fever, lethargy, and poor po intake.
- Normal cord may have accumulation of fluid between the stump and abdominal wall. This may be associated with a bad smell. There is no redness and treatment is to keep clean with alcohol.
- Granuloma- Delayed epithelialization of the cord stump may leave a dull grayish-pink granuloma that may ooze fluid. Should be cauterized with AgNO3 stick. The procedure may need to be repeated. After cauterizing, keep the diaper off the cord area temporarily.
- Culture of discharge will often reveal normal colonizing bacteria and there are no studies to show value of aspirating leading edge of the cellulitis.
- Must cover Staph. aureus and Strep. pyogenes.
- The route of administration is dependent on how the neonate looks clinically.
- without systemic symptoms, po antibiotics may be started. Awareness of MRSA prevalence in your community may determine which oral agent to start. Careful follow-up must be arranged to check for complications or lack of improvement
- If child appears ill, should perform septic workup and start an anti-staph drug combined with an aminoglycoside. If no improvement, consider MRSA as possible etiologic agent.
- Necrotizing fasciitis- may find crepitus and black discoloration. May need debridement
- Peritonitis
- Portal vein thrombosis- associated with portal hypertension. Watch for development of splenomegaly
Waardenburg's Syndrome
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What is Waardenburg syndrome?
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.
How common is Waardenburg syndrome?Waardenburg syndrome affects an estimated 1 in 10,000 to 20,000 people. In schools for the deaf, 2 percent to 3 percent of students have this condition. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.
What genes are related to Waardenburg syndrome?
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome.
The genes that cause Waardenburg syndrome are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.
Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II Waardenburg syndrome.
Mutations in the SOX10, EDN3, or EDNRB genes cause type IV Waardenburg syndrome. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.
How do people inherit Waardenburg syndrome?
Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.
Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Full article here.
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.
How common is Waardenburg syndrome?Waardenburg syndrome affects an estimated 1 in 10,000 to 20,000 people. In schools for the deaf, 2 percent to 3 percent of students have this condition. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.
What genes are related to Waardenburg syndrome?
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome.
The genes that cause Waardenburg syndrome are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.
Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II Waardenburg syndrome.
Mutations in the SOX10, EDN3, or EDNRB genes cause type IV Waardenburg syndrome. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.
How do people inherit Waardenburg syndrome?
Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.
Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Full article here.
Meckel's Diverticulum
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A Meckel’s diverticulum is a small pouch of tissue on the intestine (bowel). It forms when the baby is still growing in the womb. A Meckel’s diverticulum may bleed. It may also become infected. In either case, it must be removed.
What Are the Symptoms of Meckel’s Diverticulum?
Many people with a Meckel’s diverticulum never have symptoms. When a problem does occur, it’s often around age 2. The most common signs of a problem include:
How Is Meckel’s Diverticulum Diagnosed?
Most Meckel’s aren’t found unless they cause symptoms. If a Meckel’s is suspected, tests that may be done include:
How Is a Meckel’s Diverticulum Treated?
If the child has no symptoms, treatment might not be needed. But if the Meckel’s diverticulum is causing symptoms, it will likely be removed with surgery.
What Are the Long-Term Concerns?
Unless it causes symptoms, a Meckel’s usually isn’t a problem. Once the diverticulum is removed, most children have no further symptoms.
What Are the Symptoms of Meckel’s Diverticulum?
Many people with a Meckel’s diverticulum never have symptoms. When a problem does occur, it’s often around age 2. The most common signs of a problem include:
- Blood in stool
- Anemia (a health problem due to blood loss).
- Signs of infection (fever, chills, or pain or tenderness in the abdomen)
How Is Meckel’s Diverticulum Diagnosed?
Most Meckel’s aren’t found unless they cause symptoms. If a Meckel’s is suspected, tests that may be done include:
- Blood tests: These check for signs of bleeding or infection.
- Stool sample: This may be taken to check for blood.
- Meckel’s scan: A special dye is injected into the child’s bloodstream through an IV (intravenous) line. This dye may make the Meckel’s tissue show up on a scan.
- Ultrasound: This test uses sound waves to make images. In some cases, a Meckel’s can be seen on an ultrasound image.
- Other tests: Imaging tests such as an x-ray or CT scan may be done to rule out other problems.
How Is a Meckel’s Diverticulum Treated?
If the child has no symptoms, treatment might not be needed. But if the Meckel’s diverticulum is causing symptoms, it will likely be removed with surgery.
What Are the Long-Term Concerns?
Unless it causes symptoms, a Meckel’s usually isn’t a problem. Once the diverticulum is removed, most children have no further symptoms.
Heroin's Gone, For Now
To contact us Click HERE
My daughter is now clean and I mean really clean. She's like an angry ex-smoker on steriods. She's not on prozac and she's weaned herself off the seboxone. She reduced her dose for a couple of weeks, walked around for a couple of days with cramping legs and then she was over it. Now, she's like a bull in a china shop-everyday's a bad day. She's gained about 30 pounds and feels like everyone's looking at her because she's fat. She's not fat she's normal. She actually looks like a normal, healthy girl...not a heroin-bloated, acne, sores, bruises, skin and bones addict. I wanted to say to her "Geez, did you ever worry about people looking at you when you were nodding off, or when you didn't wash your hair or change your clothes?" But I don't...I just tell her she looks great! I don't really know what to say to her...she's miserable. Nothing makes her happy...nothing makes her laugh...I wish she was happy I really do. Can recovering addicts be happy normally? I'm going to take her back to her psychiatrist maybe he'll try something besides prozac. Any ideas?
Listen to Your Kids Because Talking to Them About Drugs Doesn't Always Work
To contact us Click HERE
We talk to our kids about drugs and it just doesn't seem to have any impact. Why? They have the attitude that they won't get into a car accident if they drive fast, they won't get pregnant if they have sex, they won't get addicted if they use heroin.... This "invincible teen attitude" is part of normal brain development. Their brains or specifically the prefrontal cortex is not developed yet. So, that proves that our teenagers are acting without a brain or at least the front part. The brains front section is responsible for considering risks and it helps us stop doing something if it's too risky. Since, this part of the brain is still developing in teens some of the wiring is not intact...the stop/go wiring. This creates a serious problem for parents but yet also gives of a sense of why teens act the way they do. Using drugs when we told them how dangerous they are...is not defiance, its not rebellion — its their brain! They do not comprehend the consequences of drug addiction at all!
So what are we as parents supposed to do to keep our children away from drugs — when they're operating without an fully functional brain? Researchers have been trying to find out why ...risk factors such as genetics, mental illness [anxiety, depression or mood illness], early use of drugs, social environment, and childhood trauma seem to be recognized as the main risk factors.
In hindsight, I can identify that "social anxiety" was the main factor in my daughters heroin addiction and it started in middle school. All I can say is listen to your kids....I mean really listen. If they say "I don't want to go to school"...find out why. Ask as many questions as you can to find out what's really bothering them-don't just shrug if off as I did and respond by saying, "schools hard, sometimes you have to do things you don't want to do." Some children don't know how to handle anxiety...and if you don't help them find ways to cope with their feelings then they find ways to cope on their own — and sometimes they find heroin.
So, listen to your kids because talking to them doesn't always work.
So what are we as parents supposed to do to keep our children away from drugs — when they're operating without an fully functional brain? Researchers have been trying to find out why ...risk factors such as genetics, mental illness [anxiety, depression or mood illness], early use of drugs, social environment, and childhood trauma seem to be recognized as the main risk factors.
In hindsight, I can identify that "social anxiety" was the main factor in my daughters heroin addiction and it started in middle school. All I can say is listen to your kids....I mean really listen. If they say "I don't want to go to school"...find out why. Ask as many questions as you can to find out what's really bothering them-don't just shrug if off as I did and respond by saying, "schools hard, sometimes you have to do things you don't want to do." Some children don't know how to handle anxiety...and if you don't help them find ways to cope with their feelings then they find ways to cope on their own — and sometimes they find heroin.
So, listen to your kids because talking to them doesn't always work.
4 Temmuz 2012 Çarşamba
Birth Defects Overview
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Overview of Birth Defects
What is a birth defect?
A "birth defect" is a health problem or physical change, which is present in a baby at the time he/she is born. Birth defects may be very mild, where the baby looks and acts like any other baby, or birth defects may be very severe, where you can immediately tell there is a health problem present. Some of the severe birth defects can be life threatening, where a baby may only live a few months, or may die at a young age (in their teens, for example). Birth defects are also called "congenital anomalies" or "congenital abnormalities." The word "congenital" means "present at birth." The words "anomalies" and "abnormalities" mean that there is a problem present in a baby.What causes birth defects to occur?
There are many reasons why birth defects happen. Most occur due to environmental and genetic factors, but often the cause is unknown.Who is affected by birth defects?
Birth defects have been present in babies from all over the world, in families of all nationalities and backgrounds. Anytime a couple becomes pregnant, there is a chance that their baby will have a birth defect. Most babies are born healthy. In fact, 97 out of 100 babies are born healthy. Anytime a couple becomes pregnant, there is a 3 to 4 percent chance that their baby will have a birth defect. The 3 to 4 percent number is sometimes called the background rate for birth defects, or the population risk for birth defects. In a family where birth defects are already present in family members or the parents themselves, the chance for a couple to have a child with a birth defect may be higher than the background rate of 3 to 4 percent.What are the genetic and environmental causes of birth defects?
When a baby is born with a birth defect, the first question usually asked by the parents is "how did this happen?" Sometimes, this question cannot be answered. This can be very upsetting for parents because it is normal to seek an answer as to why your baby has a health problem. For some birth defects, however, there is a known cause, which may have to do with either genetic or environmental factors, or a combination of the two. Here is some general information and terms related to the different causes of birth defects:- Inheritance
Inheritance is a word used to describe a trait given to you or "passed on" to you from one of your parents. Examples of inherited traits would be your eye color or blood type. - Chromosome abnormalities
Chromosomes are stick-like structures in the center of each cell (called the nucleus) that contain your genes. - Single gene defects
Genes are what determine your traits. Sometimes, a child can inherit not only those genes responsible for their normal traits such as the color of their eyes, but also disease causing genes that result in a birth defect. - Multifactorial inheritance
Multifactorial inheritance means that "many factors" (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental. - Teratogens
A teratogen is an agent, which can cause a birth defect. It is usually something in the environment that the mother may be exposed to during her pregnancy. It could be a prescribed medication, a street drug, alcohol use, or a disease that the mother has, which could increase the chance for the baby to be born with a birth defect.
Why are birth defects a concern?
Although some birth defects have a single abnormality, others have abnormalities in multiple body systems or organs. Birth defects may cause life-long disability and illness, and with some, survival is not possible. Some birth defects, such as mental retardation, are non-treatable disabilities. However, many physical defects can be treated with surgery. Repair is possible with many defects including cleft lip or palate, and certain heart defects.How are birth defects diagnosed?
Many birth defects can be diagnosed before birth with special tests (prenatal diagnosis). Chromosomal abnormalities such as Down syndrome can be diagnosed before birth by analyzing cells in the amniotic fluid or from the placenta. Fetal ultrasound during pregnancy can also give information about the possibility of certain birth defects, but ultrasound is not 100 percent accurate, since some babies with birth defects may look the same on ultrasound as those without problems. A chromosome analysis, whether performed on a blood sample or cells from the amniotic fluid or placenta, is over 99.9 percent accurate. Tests that help screen for birth defects include the following:- alpha-fetoprotein - this blood test measures the levels of alpha-fetoprotein (AFP), a protein released by the fetal liver and found in the mother's blood. AFP is sometimes called MSAFP (maternal serum AFP). AFP screening may be included as one part of a two, three, or four-part screening, often called a multiple marker screen. The other parts may include the following:
- hCG - human chorionic gonadotropin (hCG) is a hormone secreted by the early placental cells. High hCG levels may indicate a fetus with Down syndrome (a chromosomal abnormality that includes mental retardation and distinct physical features).
- estriol - a hormone produced by the placenta and by the fetal liver and adrenal glands. Low levels may indicate a fetus with Down syndrome.
- inhibin - a hormone produced by the placenta.
- chorionic villus sampling (CVS) - a prenatal test that involves taking a sample of some of the placental tissue. This tissue contains the same genetic material as the fetus and can be tested for chromosomal abnormalities and some other genetic problems. Testing is available for other genetic defects and disorders depending on the family history and availability of laboratory testing at the time of the procedure. In comparison to amniocentesis (another type of prenatal test), CVS does not provide information on neural tube defects such as spina bifida. For this reason, women who undergo CVS also need a follow-up blood test between 16 to 18 weeks of their pregnancy, to screen for neural tube defects.
- amniocentesis - a procedure used to obtain a small sample of the amniotic fluid that surrounds the fetus to diagnose chromosomal disorders and open neural tube defects (ONTDs) such as spina bifida. Testing is available for other genetic defects and disorders depending on the family history and availability of laboratory testing at the time of the procedure. The American College of Obstetricians and Gynecologists (ACOG) recommends amniocentesis around 15 weeks to 20 weeks of pregnancy for those women who are at increased risk for chromosome abnormalities, such as women who are over age 35 years of age at delivery, or those who have had an abnormal maternal serum screening test, indicating an increased risk for a chromosomal abnormality or neural tube defect. However, in some situations, amniocentesis may be performed as early as 14 weeks.
- ultrasound - a diagnostic technique that uses high-frequency sound waves to create an image of the internal organs. Many birth defects can be detected with ultrasound.
Prevention of birth defects:
Research is ongoing to find and treat the causes of many birth defects. Immunizations of the mother against certain infections, such as rubella, can prevent infection. Much has been learned about the dangerous effects of alcohol on the developing baby and women are now advised to not drink during pregnancy. In recent years, a strong link has been discovered between the lack of the B-vitamin folic acid and the development of neural tube defects such as spina bifida. Taking a vitamin containing sufficient folic acid before conception and in early pregnancy can often help prevent many serious defects. Full article found here.
Waardenburg's Syndrome
To contact us Click HERE
What is Waardenburg syndrome?
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.
How common is Waardenburg syndrome?Waardenburg syndrome affects an estimated 1 in 10,000 to 20,000 people. In schools for the deaf, 2 percent to 3 percent of students have this condition. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.
What genes are related to Waardenburg syndrome?
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome.
The genes that cause Waardenburg syndrome are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.
Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II Waardenburg syndrome.
Mutations in the SOX10, EDN3, or EDNRB genes cause type IV Waardenburg syndrome. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.
How do people inherit Waardenburg syndrome?
Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.
Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
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Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.
How common is Waardenburg syndrome?Waardenburg syndrome affects an estimated 1 in 10,000 to 20,000 people. In schools for the deaf, 2 percent to 3 percent of students have this condition. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.
What genes are related to Waardenburg syndrome?
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome.
The genes that cause Waardenburg syndrome are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.
Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II Waardenburg syndrome.
Mutations in the SOX10, EDN3, or EDNRB genes cause type IV Waardenburg syndrome. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.
How do people inherit Waardenburg syndrome?
Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.
Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Full article here.
Meckel's Diverticulum
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A Meckel’s diverticulum is a small pouch of tissue on the intestine (bowel). It forms when the baby is still growing in the womb. A Meckel’s diverticulum may bleed. It may also become infected. In either case, it must be removed.
What Are the Symptoms of Meckel’s Diverticulum?
Many people with a Meckel’s diverticulum never have symptoms. When a problem does occur, it’s often around age 2. The most common signs of a problem include:
How Is Meckel’s Diverticulum Diagnosed?
Most Meckel’s aren’t found unless they cause symptoms. If a Meckel’s is suspected, tests that may be done include:
How Is a Meckel’s Diverticulum Treated?
If the child has no symptoms, treatment might not be needed. But if the Meckel’s diverticulum is causing symptoms, it will likely be removed with surgery.
What Are the Long-Term Concerns?
Unless it causes symptoms, a Meckel’s usually isn’t a problem. Once the diverticulum is removed, most children have no further symptoms.
What Are the Symptoms of Meckel’s Diverticulum?
Many people with a Meckel’s diverticulum never have symptoms. When a problem does occur, it’s often around age 2. The most common signs of a problem include:
- Blood in stool
- Anemia (a health problem due to blood loss).
- Signs of infection (fever, chills, or pain or tenderness in the abdomen)
How Is Meckel’s Diverticulum Diagnosed?
Most Meckel’s aren’t found unless they cause symptoms. If a Meckel’s is suspected, tests that may be done include:
- Blood tests: These check for signs of bleeding or infection.
- Stool sample: This may be taken to check for blood.
- Meckel’s scan: A special dye is injected into the child’s bloodstream through an IV (intravenous) line. This dye may make the Meckel’s tissue show up on a scan.
- Ultrasound: This test uses sound waves to make images. In some cases, a Meckel’s can be seen on an ultrasound image.
- Other tests: Imaging tests such as an x-ray or CT scan may be done to rule out other problems.
How Is a Meckel’s Diverticulum Treated?
If the child has no symptoms, treatment might not be needed. But if the Meckel’s diverticulum is causing symptoms, it will likely be removed with surgery.
What Are the Long-Term Concerns?
Unless it causes symptoms, a Meckel’s usually isn’t a problem. Once the diverticulum is removed, most children have no further symptoms.
Heroin's Gone, For Now
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My daughter is now clean and I mean really clean. She's like an angry ex-smoker on steriods. She's not on prozac and she's weaned herself off the seboxone. She reduced her dose for a couple of weeks, walked around for a couple of days with cramping legs and then she was over it. Now, she's like a bull in a china shop-everyday's a bad day. She's gained about 30 pounds and feels like everyone's looking at her because she's fat. She's not fat she's normal. She actually looks like a normal, healthy girl...not a heroin-bloated, acne, sores, bruises, skin and bones addict. I wanted to say to her "Geez, did you ever worry about people looking at you when you were nodding off, or when you didn't wash your hair or change your clothes?" But I don't...I just tell her she looks great! I don't really know what to say to her...she's miserable. Nothing makes her happy...nothing makes her laugh...I wish she was happy I really do. Can recovering addicts be happy normally? I'm going to take her back to her psychiatrist maybe he'll try something besides prozac. Any ideas?
Listen to Your Kids Because Talking to Them About Drugs Doesn't Always Work
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We talk to our kids about drugs and it just doesn't seem to have any impact. Why? They have the attitude that they won't get into a car accident if they drive fast, they won't get pregnant if they have sex, they won't get addicted if they use heroin.... This "invincible teen attitude" is part of normal brain development. Their brains or specifically the prefrontal cortex is not developed yet. So, that proves that our teenagers are acting without a brain or at least the front part. The brains front section is responsible for considering risks and it helps us stop doing something if it's too risky. Since, this part of the brain is still developing in teens some of the wiring is not intact...the stop/go wiring. This creates a serious problem for parents but yet also gives of a sense of why teens act the way they do. Using drugs when we told them how dangerous they are...is not defiance, its not rebellion — its their brain! They do not comprehend the consequences of drug addiction at all!
So what are we as parents supposed to do to keep our children away from drugs — when they're operating without an fully functional brain? Researchers have been trying to find out why ...risk factors such as genetics, mental illness [anxiety, depression or mood illness], early use of drugs, social environment, and childhood trauma seem to be recognized as the main risk factors.
In hindsight, I can identify that "social anxiety" was the main factor in my daughters heroin addiction and it started in middle school. All I can say is listen to your kids....I mean really listen. If they say "I don't want to go to school"...find out why. Ask as many questions as you can to find out what's really bothering them-don't just shrug if off as I did and respond by saying, "schools hard, sometimes you have to do things you don't want to do." Some children don't know how to handle anxiety...and if you don't help them find ways to cope with their feelings then they find ways to cope on their own — and sometimes they find heroin.
So, listen to your kids because talking to them doesn't always work.
So what are we as parents supposed to do to keep our children away from drugs — when they're operating without an fully functional brain? Researchers have been trying to find out why ...risk factors such as genetics, mental illness [anxiety, depression or mood illness], early use of drugs, social environment, and childhood trauma seem to be recognized as the main risk factors.
In hindsight, I can identify that "social anxiety" was the main factor in my daughters heroin addiction and it started in middle school. All I can say is listen to your kids....I mean really listen. If they say "I don't want to go to school"...find out why. Ask as many questions as you can to find out what's really bothering them-don't just shrug if off as I did and respond by saying, "schools hard, sometimes you have to do things you don't want to do." Some children don't know how to handle anxiety...and if you don't help them find ways to cope with their feelings then they find ways to cope on their own — and sometimes they find heroin.
So, listen to your kids because talking to them doesn't always work.
2 Temmuz 2012 Pazartesi
Congenital and Acquired Melanocytic Nevi
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Congenital and Acquired Melanocytic Nevi
Congenital Pigmented Nevi
Congenital Pigmented Nevi
- Incidence of 1% in newborns with greater incidence in blacks(1.8%).
- Classified by size
- Small- <>
- Medium 1.5- 20 cm.- tan to brown macules. Darken with puberty and may become elevated and develop hair
- Giant > 20 cm. - incidence of 1/20000 with irregular margin and may have verrucous texture. They are usually dark and covered with dark hair. Satellite lesions may be present. Because of their large size, often referred to as "bathing suit nevi". Also may have extension into the leptomeninges and have associated neurological manifestations that include seizures and neurological focal deficits.
- Risk of Malignant transformation- this is a controversial area with many varied opinions
- is a 2.5-4.6% chance of malignant transformation. The risk is greater for giant nevi and usually will occur prior to puberty.
- Small and medium sized nevi will rarely change prior to puberty although estimates are that 15% of melanomas originate in small congenital nevi.
- 5-10% of giant nevi will result in melanomas and 50% will arise prior to the age of 5.
- Management
- Management remains controversial and based on risk of malignant transformation, cosmetic appearance, risk of scarring, and psychological issues.
- Giant nevi are often removed because of the increased incidence of malignant transformation and cosmetic disfigurement. Also, because of their irregular features, it may be difficult to recognize significant changes. All patients should have imaging studies to rule out involvement of the central nervous system. Surgical procedures are difficult and may be associated with great disfigurement.
- All non- giant nevi should be observed yearly for changes that may be indicative of malignant transformation. Specimens that change should be biopsied. Also, location of the nevus and ability to observe for changes is important in decision to remove.
- are benign accumulation of melanocytes that increase during childhood and peak during 30-40s. The greater the number of nevi, the greater the risk of melanoma. Increased numbers are associated with sun exposure, especially in fair skinned individuals.
- With maturation, they may become raised, dome shaped, and pedunculated. Eventually, they disappear with aging.
- Rarely undergo malignant transformation. Increased risk factors for melanoma include fair skin, increased sun exposure, positive family history, increased number of nevi, presence of giant nevus, some familial syndromes, and immunosuppression. Should observe for
- rapid increase in size
- irregularity of the border
- development of asymmetry
- variation of color within nevus
- development of satellite lesions
- changes in texture.
- Most observed changes are due to irritation or natural maturation of the nevus.
- If there is concern about changes or parental anxiety, nevus should be removed.
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