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.

Meckel's Diverticulum

To contact us Click HERE
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:

• 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.

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.

Meckel's Diverticulum

To contact us Click HERE
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:

• 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.

PIEBALDISM

To contact us Click HERE
The name piebaldism is derived from a combination of the “pie” in the magpie (a bird of black and white plumage) and the “bald” of the bald eagle (the US national bird that has a white feathered head). Hence the major characteristic of piebaldism is a white forelock (a patch of white hair directly above the forehead).

What is piebaldism?

Piebaldism is a rare inherited condition characterised by:

White forelock in 80-90% of those affected (poliosis)
White patch (due to absence of pigmentation) of the central portion of the forehead
Eyebrow and eyelash hair may also be affected, either continuously or discontinuously with the forelock
White patches of skin may also be seen on the face (particularly the chin), trunk and extremities (hands and feet are not usually affected)
Often a narrow border of hyperpigmented skin surrounds the white unpigmented patches
Sometimes islands of normal or hyperpigmented skin occur within the white patches
The condition is present at birth and usually remains unchanged throughout life.

What is the cause of piebaldism?

Piebaldism is due to an absence of melanocytes in affected skin and hair follicles. This is caused by mutations of the KIT proto-oncogene. 14 point mutations, 9 deletions, 2 nucleotide splice mutations, and 3 insertions of the KIT gene are believed to be mutations causing piebaldism. The severity of the condition correlates with the site of the mutation within the KIT gene.

Piebaldism is an autosomal dominant genetic disorder meaning half of an affected person's children will also have the condition.

Piebaldism is one of the cutaneous signs of Waardenburg syndrome.

How is the diagnosis made?

Skin biopsy from patients with piebaldism demonstrates complete lack of melanocytes and melanin pigment. In vitiligo, lesions appear later in life and their configuration and distribution is quite different. If deafness is apparent and the distance between the eyes is greater than normal then the diagnosis of Waardenburg syndrome needs to be considered.

What is the treatment for piebaldism?

Piebaldism is a benign disorder. However, patients with the condition are at risk of sunburn and other disorders caused by overexposure to the sun. Patients must be educated about use of sunscreens, sun protective measures, and sun avoidance during peak hours of UV exposure, and self examination of the skin to detect any sun damage that may increase the risk of skin cancer.

Patients who are self-conscious about their appearance may benefit from the following treatments:

Dermabrasion of areas of depigmentation followed by the application of melanocyte-enriched cell suspensions
Melanocyte transplant by shaving off the top layer of skin (epidermis) and replacing it by shaved-off skin from another site
Suction epidermal grafting or full-thickness punch grafts
A combination of these methods may be required and can be augmented by the addition of UV light therapy.

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.

Meckel's Diverticulum

To contact us Click HERE
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:

• 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.

HFMD Hand Foot Mouth Disease and Vitamin A Insufficiency

To contact us Click HERE
MedWire News: Vitamin A status is associated with immunity to, and pathogenic condition of, hand, foot, and mouth disease (HFMD) in children, say researchers whose study results show that the majority of those with the infectious disease also had vitamin A insufficiency.
Furthermore, the complication rate was higher and duration of hospitalization longer among children with HFMD and vitamin A levels of 0.7 µmol/L or less - the level generally considered to indicate deficiency - compared with those whose levels were higher, remarks the team in Clinical Nutrition.
Vitamin A is "an essential micronutrient with established roles in embryogenesis, growth, reproduction, maintenance of epithelial integrity, and optimal function of the immune system," explain Weiping Wang, from the Children's Hospital of Fudan University in Shanghai, the People's Republic of China, and co-investigators.
The last two functions are particularly concerning when considering the potential impact of vitamin A deficiency on HFMD infection, which is characterized by pathologic damage to the skin and mucous membranes, they add.
The team assessed dietary intake and serum concentrations of vitamin A in a group of 450 hospitalized HFMD patients aged a median 25 months at disease onset. Participants all weighed in the normal range for their age and none were malnourished.
The cohort had a mean serum vitamin A concentration of 0.73 µmol/L, measured by blood test, and 52.7% of patients presented with concentrations of 0.70 µmol/L or lower, a "remarkably high number," say Wang and colleagues.
Mean length of hospital stay was significantly longer among vitamin A deficient than sufficient HFMD patients, at 3.5 versus 3.2 days. When the cohort was categorized according to vitamin A deficiency, the rate of disease complications was significantly higher in the deficiency group, at 46% versus 29% in the nondeficient group.
Results of an enzyme-linked immunosorbent assay showed that serum concentrations of interferon (IFN)-α were significantly lower in patients with complications than in those without, at 67.1 versus 87.7 pg/mL. More importantly, serum IFN-α concentration positively associated with vitamin A concentration, remark Wang et al.
"The mechanisms are unclear, but low vitamin A levels may be due to decreased intake, increased consumption, or increased catabolism," write the authors.
They suggest that further studies are needed to determine the reasons for their findings, so that "appropriate interventions can be implemented to improve the vitamin A status of individuals with HFMD."

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.

Meckel's Diverticulum

To contact us Click HERE
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:

• 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.

HONEY FOR CHILDHOOD COUGHS

To contact us Click HERE
August 6, 2012 — Honey is more effective than a placebo in controlling nighttime cough in children with upper respiratory infections (URI), according to the results from a new randomized placebo-controlled, double-blind trial. The results were published online August 6 in Pediatrics.

The World Health Organization recommends honey as a nighttime treatment for coughing in young children with URIs. However, prior studies either tested only a single type of honey or were not blinded.

In the current study, children with URIs and nocturnal cough were given either 1 of 3 different honey products or a placebo 30 minutes before bedtime, based on a double-blind randomization plan. The primary outcome evaluated was a subjective change in cough frequency, based on parent surveys. Secondary outcomes measured included a change in cough severity, the effect of the cough on sleep for both the child and the parent, and the combined score on the pre- and postintervention surveys.

Herman Avner Cohen, MD, from the Pediatric Ambulatory Community Clinic, Petach Tikva, Israel, and colleagues compared symptom scores for each treatment group before and after the intervention and found that patients in all 3 honey groups demonstrated significant improvement compared with patients treated with placebo. There were no significant differences among the different types of honey.

"The results of this study demonstrate that each of the 3 types of honey (eucalyptus, citrus, and labiatae) was more effective than the placebo for the treatment of all of the outcomes related to nocturnal cough, child sleep, and parental sleep," the authors write.

The researchers enrolled 300 children with URIs, aged 1 to 5 years, who were seen at 1 of 6 general pediatric community clinics between January 2009 and December 2009. Patients were eligible if they had a nocturnal cough attributed to the URI. Children were excluded if they had symptoms of asthma, pneumonia, laryngotracheobronchitis, sinusitis, and/or allergic rhinitis. Patients who used any cough or cold medication or honey in the previous 24 hours were also excluded.

Parents were asked to evaluate the children the day of presentation, when no medication had been given, and then again the day after a single dose of 10 g of eucalyptus honey, citrus honey, labiatae honey, or placebo (silan date extract) had been administered before bedtime. Pre- and postintervention subjective assessments were obtained using a 5-item Likert-scale questionnaire regarding the child's cough and sleep difficulty. Only those children whose parents rated severity as at least a 3 (on a 7-point scale) for at least 2 of the 3 questions related to nocturnal cough and sleep quality on the preintervention questionnaire were included.

Of the 300 patients enrolled, 270 (89.7%) completed the single-night study. The median age of these children was 29 months (range, 12 - 71 months). There was no significant age difference among the treatment groups. Symptom severity was also similar among all 4 treatment groups.

Adverse events were reported for 5 patients and included stomachache, nausea, and vomiting and were not significantly different between the groups.

The authors acknowledge the limitations of the study, including the subjective nature of the survey and the fact that the intervention period was limited to a single dose. In addition, they note that some of the improvement measured may be attributed to the natural progression of URIs, which may improve with supportive care and time.

"On the basis of our findings, honey can be offered as an alternate treatment to children >1 year of age," note Dr. Cohen and colleagues.

"Honey may be a preferable treatment of cough and sleep difficulties associated with childhood URI," they conclude.

Funding for this study was provided by a research grant from the Israel Ambulatory Pediatric Association, Materna Infant Nutrition Research Institute, and the Honey Board of Israel. The authors have disclosed no relevant financial relationships.

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.