Congenital Airway Malformations

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Congenital malformations of the airways and lungs make up approximately 10-15% of all malformations and are often found with other congenital anomalies (18-20%). The following review includes a description of two of the more common lung malformations: bronchogenic cysts and congenital cystic adenomatoid malformations (CCAM). The vast majority of foregut cysts found in infancy are bronchogenic cysts (1).
Bronchogenic cysts are one type of a foregut cyst (a closed epithelial-lined sac developing abnormally from both the upper gut and respiratory tract). A bronchogenic cyst is thought to develop as a diverticulum of the primitive foregut. Since most form very early, usually 4-8 weeks gestation and before the development of distal airways, they rarely connect to a normal bronchus. Most are right sided, midline and in close proximity to the tracheobronchial tree. On rare occasions they can separate the connection to the airway and migrate to the periphery, parahilar area or even below the diaphragm. Five categories have been described by location: 1) paratracheal 2) carinal 3) para-esophageal 4) hilar and 5) other. They may contain normal tracheal tissue including mucus glands, elastic tissue, smooth muscle and cartilage. They are lined with ciliated epithelium. They range from 2-10 cm in diameter. The cyst may contain serous (with the consistency of water) or proteinaceous fluid (2,3).
Congenital cystic adenomatoid malformation (CCAM) is a congenital bronchopulmonary anomaly resulting from a maldevelopment of the lung bud in the fetus (1). CCAMs are a defect of non-cartilage containing terminal respiratory structures, resulting from an abnormality occurring in the mid to late stages of lung development. Although these lesions are frequently described as hamartomatoid, they are not true hamartomas because skeletal muscle can be found in the wall of the cyst. The following is a list of distinguishing features that define the group: 1) absence of cartilage, 2) absence of bronchial tubular glands, 3) presence of tall columnar mucinous epithelium 4) increased production of terminal bronchiolar structures without alveolar differentiation 5) increased enlargement of the affected lobe (4).
There are at least 4 subtypes described, although type 0 is not compatible with life. The different subtypes are primarily described by their gross physical appearance, but they also differ by their variations in microscopic findings and embryologic origin. Each subtype has differing prognostic indications. Type 0 (most rare) is tracheobronchial in origin, with small, firm and granular lungs. Microscopically there are bronchial-like structures separated by mesenchymal tissue.
Type I (macrocystic subtype) is the most frequent variant (60-70%). It has bronchial-bronchiolar origins and at least one prominent cystic structure, although several smaller cysts may also be present. Type I malformations have little adenomatoid component and are mainly lined by ciliated pseudostratified epithelium. They contain cysts interspersed with bronchiolar and alveolar tissue.
Type II (microcystic subtype) is the next most frequent variant (15-20%). Smaller cysts with ciliated cuboidal or columnar epithelium are the dominant feature. It has a mix of cystic and adenomatoid components and is bronchial in origin. Between the cysts are distended respiratory bronchioles and alveolar tissue. These may also contain skeletal muscle. This subtype is associated with a higher incidence of other anomalies.
Type III (solid subtype) is rare (8-10%). It is a bulky lesion, with thin walled cysts. Type III is almost entirely adenomatoid in make-up. It is an airless mass of bronchiolar elements, lined by patchy ciliated cuboidal epithelium mixed with alveolar elements.
Some describe Type IV (10-15%) as a large cystic lesion in the periphery of the lung, believed to be of acinar origin. Others do not describe this subtype and incorporate it into the others. These cysts are lined by flattened pneumocytes (5-6).
The clinical manifestations of a bronchogenic cyst depend on size, location and whether there is a communication with the airway or esophagus. They can present with fever, dyspnea, stridor, chronic cough, chest pain, dysphagia, cyanosis, crackles, wheezing, pulmonary sepsis or suppuration of the cyst, respiratory distress or swelling. Bronchogenic cysts can present as a draining sinus, typically located in the suprasternal notch or supraclavicular area. Superior vena cava syndrome has been seen. They are asymptomatic in up to 30% (7).
CCAMs present early in the newborn period with respiratory distress (dyspnea, tachypnea, grunting, retractions or cyanosis) in approximately 75% of cases. The mass lesion comprised of growing cysts can compress the surrounding structures. Compression during development of the surrounding lung can cause pulmonary hypoplasia, maldevelopment of the heart and great vessels (may cause fetal hydrops), or hypoplasia of the airways (can lead to respiratory distress). For those who do not present in the newborn period, they may present at any point in life. The lesions can develop infections, as they do not have normal clearance mechanisms, leading to recurrent pulmonary sepsis. A higher percentage of these lesions are being diagnosed or suspected prenatally by ultrasound.
On chest radiographs, bronchogenic cysts usually appear as a spherical or ovoid mass close to the carina or mainstem bronchus. CCAMs appear as obvious solid or cystic masses with or without pleural effusion. Diagnosis is suspected by CXR, CT, MRI, endoscopy or fluoroscopy, but is confirmed by pathologic evaluation of tissue.
Bronchogenic cysts are most commonly confused with the other main type of foregut cysts, esophageal duplication cysts. The rest of the differential diagnosis includes cystic hygroma, thymoma, thyroid tumors, dermoid cyst, congenital lung emphysema, pulmonary abscess, pneumatocele, thyroglossal duct cyst, bronchial duct cyst, teratomas, necrotic cervical lymphadenopathy, neurogenic tumors, primary malignancy, lipoma and leiomyoma.
CCAMs are most frequently mistaken for congenital diaphragmatic hernia (since the cysts can resemble bowel gas in the chest on CXR) but the differential includes simple parenchymal cysts, infections, sequestration, mesenchymal cystic hamartomas, mesothelial cysts or cystic lymphangiectasis (8-10).
The treatment of choice in all forms of bronchogenic cysts and CCAMs is surgical excision, which also provides confirmation of the diagnosis. Bronchogenic cysts may rupture into a bronchus or pleura, bleed profusely or become infected. These complications can cause problems at the time of surgical excision or produce sudden death. If they have already been secondarily infected, the excision may have to be delayed until antibiotic treatment can clear the area of infection. If resection is not complete, recurrence is possible. For CCAM, early resection will allow for compensation of lung growth from the remaining sections, and prevents secondary infections, that otherwise commonly occur.
Left untreated, bronchogenic cysts may develop malignancy including rhabdomyosarcoma, leiomyosarcoma, or anaplastic carcinoma. In one study of symptomatic infants, there was 100% mortality without surgery. Of those infants undergoing surgery, mortality rates were reported to be 0-14%. The prognosis for those surviving surgery was good. In some, residual tracheomalacia or bronchomalacia may be present.
CCAM Type 0 is not compatible with life and these infants are usually stillborn, or spontaneously aborted. Type I lesions have the best prognosis. For those surviving surgical resection, the prognosis is excellent with compensatory lung growth of the remaining segments. Type II has a worse overall outcome compared to Type I, largely because of the other associated anomalies. Type III has a poor prognosis, due to the degree of hypoplasia frequently seen in the other lung segments. If untreated, there is also a potential for malignant transformation in CCAM.
Another important consideration for those patients with either type of lesion is air travel, when transport to a tertiary care center is needed for further management. The cystic lesions have been known to expand 30% in size during flight, which may cause a significant mass effect and further compression of vital structures. Care must be taken to avoid significant pressure changes by flying at low altitudes, or in special aircraft capable of pressurization to sea level.

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.

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:

• 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.

Tuberculosis, Neonatal

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Tuberculosis can be acquired in the perinatal period. Symptoms and signs are nonspecific. Diagnosis is by culture and perhaps x-ray and biopsy. Treatment is with antituberculous drugs.

Infants may acquire tuberculosis (TB) by transplacental spread through the umbilical vein to the fetal liver, by aspiration or ingestion of infected amniotic fluid, or via airborne inoculation from close contacts (family members or nursery personnel). About 50% of children born to mothers with active pulmonary TB develop the disease during the 1st year of life if chemoprophylaxis or BCG vaccine is not given.

Symptoms, Signs, and Diagnosis

The clinical presentation of neonatal TB is nonspecific but is usually marked by multiple organ involvement. The neonate may look acutely or chronically ill. Fever, lethargy, respiratory distress, hepatosplenomegaly, or failure to thrive may indicate TB in a neonate with a history of exposure.

All neonates with suspected congenital TB should have chest x-ray and culture of tracheal aspirates, gastric washings, urine, and CSF for acid-fast bacilli. Skin testing is not extremely sensitive but should be performed; biopsy of the liver, lymph nodes, lung, or pleura may be needed to confirm diagnosis. Well-appearing neonates whose mothers had a positive skin test but a negative chest x-ray and no evidence of active disease should have a skin test q 3 mo for 1 yr. If the test is positive, chest x-ray and cultures for acid-fast bacilli are obtained as above.

Treatment

Pregnant women with a positive tuberculin test: Because the hepatotoxicity of isoniazid
(INH) is increased in pregnancy, and because the risk of contracting TB from a mother with a positive tuberculin test is greater for the neonate than for the fetus, INH use is deferred until the 3rd trimester unless the woman has active TB. Treatment is given for 9 mo, along with supplemental pyridoxine.

Infants with a positive tuberculin test: If there is no clinical or radiologic evidence of disease, the infant should receive INH 10 mg/kg po once/day for 9 mo and should be closely followed.

Pregnant women with active TB: INH, ethambutol, and rifampin use in recommended doses during pregnancy has not been shown to be teratogenic to the human fetus. The recommended initial treatment regimen in the US includes INH (300 mg po), ethambutol (15 to 25 mg/kg), and rifampin (600 mg po). All pregnant and breastfeeding women receiving INH should also take pyridoxine (25 mg po). All these drugs can be given once/day. The recommended duration of therapy is at least 9 mo unless the organism is drug-resistant, in which case an infectious disease consultation is recommended, and therapy may need to be extended to 18 mo. Streptomycin is potentially ototoxic to the developing fetus and should not be used early in pregnancy unless rifampin is contraindicated. If possible, other antituberculous drugs should be avoided because of teratogenicity (eg, ethionamide) or lack of clinical experience during pregnancy. Breastfeeding is not contraindicated for mothers receiving therapy who are not infective.

Asymptomatic infants of women with active TB: The infant usually is separated from the mother until effective treatment is under way or acid-fast stains of her sputum become negative (usually 2 to 12 wk). Family contacts should be investigated for undiagnosed TB before the infant goes home.

If compliance can be reasonably assured and the family is nontuberculous, the infant is started on a regimen of INH as above and sent home at the usual time. Skin testing should be performed at ages 3 and 6 mo. If the infant remains tuberculin-negative, INH is stopped and the infant is monitored with monthly to bimonthly clinical evaluations, and skin tests at 12 mo.

If compliance in a nontuberculous environment cannot be ensured, BCG vaccine may be considered for the infant, and INH therapy should be started as soon as possible. (Although INH inhibits the multiplication of BCG organisms, the combination of BCG vaccine and INH is supported by clinical trials and anecdotal reports.) BCG vaccination does not ensure against exposure to and development of tuberculous disease, but offers significant protection against serious and widespread invasion (eg, tuberculous meningitis). Infants should be monitored for development of tuberculous illness, particularly in the 1st year. (Caution: BCG vaccine is contraindicated in immunosuppressed patients and those suspected of being infected with HIV. However, in high-risk populations, the WHO recommends that asymptomatic HIV-infected infants receive BCG vaccine at birth or shortly thereafter.)

Neonates with active TB: The American Academy of Pediatrics recommends treatment once/day with INH (10 to 15 mg/kg po), rifampin (10 to 20 mg/kg po), pyrazinamide (20 to 40 mg/kg po), and streptomycin (20 to 40 mg/kg IM) for 2 mo, with INH and rifampin continued for another 10 mo. Alternatively, a 10-mo regimen of INH and rifampin twice/wk can be given after the 2-mo initial therapy. Depending on results of testing for resistance, capreomycin or kanamycin may be used instead of streptomycin. Breastfed infants should also receive pyridoxine supplementation.

When the CNS is involved, initial therapy also includes corticosteroids (1 mg/kg po once/day for 6 to 8 wk, then gradually tapered). Therapy continues until all signs of meningitis have disappeared and cultures are negative on 2 successive lumbar punctures at least 1 wk apart. Therapy can then be continued with INH and rifampin once/day or twice/wk for another 10 mo.

TB in infants and children that is not congenitally acquired or disseminated; does not involve the CNS, bones, or joints; and results from drug-susceptible organisms can be treated effectively with a 6- to 9-mo (total) course of therapy. Organisms recovered from the infant or mother should be tested for drug sensitivity. Hematologic, hepatic, and otologic symptoms should be monitored frequently to determine response to therapy and drug toxicity. Frequent laboratory analysis is not usually necessary.

Directly observed therapy (DOT) is used to improve compliance and the success of therapy. Many anti-TB drugs are not available in pediatric dosages. Administering these drugs to children may be improved in settings with experienced personnel.

Prevention

Routine neonatal BCG vaccination is not indicated in developed countries but may curb the incidence of childhood TB or decrease its severity in populations at increased risk for infection.

Full article found here.

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.

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:

• 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.

Stickler Syndrome

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Stickler syndrome is an inherited disorder than can affect multiple parts of your body, including your eyes, face, ears, heart, bones and joints. The cause of Stickler syndrome is a gene mutation that affects the formation of a connective tissue called collagen.
Stickler syndrome is named for a German doctor named Gunnar Stickler, who described the syndrome in a young boy in 1960. Stickler syndrome is usually diagnosed in young children. If your child has Stickler syndrome, treating the signs and symptoms can help your child manage the disorder and live a full, productive life.

Symptoms

A combination of the following signs and symptoms are common in children with Stickler syndrome:

• Severe nearsightedness. This common condition, also called myopia, is a sight disorder in which you can see near objects clearly, but objects farther away appear blurry. Children with Stickler syndrome are often born with severe nearsightedness.
• Altered facial features. Children with Stickler syndrome often have a somewhat flattened facial structure with a small nose and a slight or absent nasal bridge. These altered features often become less distinctive with age.
• Hearing difficulties. The extent of hearing loss varies among people with this condition. The hearing loss associated with Stickler syndrome tends to worsen over time.
• Excessive joint flexibility. The ability to painlessly extend the joints beyond the normal range of motion is a characteristic of people with Stickler syndrome. As your child gets older, any extreme joint flexibility will likely lessen or disappear and your child may develop achy, swollen joints.

Other signs of Stickler syndrome may include slender arms and legs and long fingers.

Causes

Stickler syndrome is an inherited disorder caused by a defective gene involved in the formation of a protein called collagen. Collagen is the building block of many types of connective tissues, which support your body's internal structures.
Genes are segments of DNA that "code" for all of your characteristics — including traits you can see, such as eye color, and traits you can't see but that can affect your health, such as the propensity to develop high cholesterol. You receive your genes, which occur in pairs, from your parents. One half of each pair is inherited from your mother, the other half is from your father. Some gene pairs can be made up of one dominant gene and one recessive gene. In these instances, the effect of a dominant gene "masks" the effect of a recessive gene. This pattern of inheritance is called autosomal dominant inheritance. If a dominant gene is mutated — as in the case of Sticker syndrome — disease may result.
If you have Stickler syndrome and your partner does not, the chances that you'll pass the condition on to any of your children is 50 percent. The severity of the signs and symptoms of Stickler syndrome can vary among family members.
Rarely, people may develop Stickler syndrome without inheriting a mutant gene. In these cases, Stickler syndrome results from a random mutation in one of your genes. It's not certain why random gene mutations occur.

Genes are segments of DNA that "code" for all of your characteristics — including traits you can see, such as eye color, and traits you can't see but that can affect your health, such as the propensity to develop high cholesterol. You receive your genes, which occur in pairs, from your parents. One half of each pair is inherited from your mother, the other half is from your father. Some gene pairs can be made up of one dominant gene and one recessive gene. In these instances, the effect of a dominant gene "masks" the effect of a recessive gene. This pattern of inheritance is called autosomal dominant inheritance. If a dominant gene is mutated — as in the case of Sticker syndrome — disease may result.
If you have Stickler syndrome and your partner does not, the chances that you'll pass the condition on to any of your children is 50 percent. The severity of the signs and symptoms of Stickler syndrome can vary among family members.
Rarely, people may develop Stickler syndrome without inheriting a mutant gene. In these cases, Stickler syndrome results from a random mutation in one of your genes. It's not certain why random gene mutations occur.

Risk factors

Sticker syndrome is an inherited disorder. If you have Stickler syndrome and your partner does not, your child has a 50 percent chance — or a probability of one in two — of developing the condition.

When to seek medical advice

Having Stickler syndrome increases your child's risk of serious eye complications. Call an eye specialist if your child describes any of the following symptoms:

• A sudden onset or increase in floaters — tiny bits of debris floating in the eye that appear as clumps or strings
• Flashes of light in one or both eyes
• A shadow over a portion of the visual field
• A sudden blur in vision

These may be symptoms of retinal detachment, a serious eye condition requiring immediate surgical repair.
If you have Stickler syndrome and would like to have children, consider discussing your family plans with a genetic counselor. A genetic professional can explain how your disorder is inherited and its implications for your children, which may help you make informed personal decisions.

Tests and diagnosis

Your doctor may suspect Stickler syndrome based on a combination of the following signs and symptoms:

• Eye abnormalities at birth. Eye examinations help detect eye problems that are often present at birth in children with Stickler syndrome. These include a clouding of the normally clear lens of your eye (cataracts) or a defect in the jelly-like material (vitreous) filling your eye. Severe nearsightedness may be observed in older children who take vision tests.
• Impaired hearing. Your doctor may use a test called an audiogram — which measures your ability to detect different pitches and volumes of sound — to determine whether your child has experienced hearing loss.
• Altered facial features. During a physical exam, your doctor examines your child's face for features specific to Stickler syndrome — a flattened facial structure, a small nose, and a slight or absent nasal bridge. Some children also have a series of facial abnormalities that include an opening in the roof of the mouth (cleft palate), a large tongue and a small lower jaw.
• Excessive joint flexibility. Your doctor may stretch your child's arms and legs to determine the extent of his or her flexibility. If your child has Stickler syndrome, he or she may be able to extend the arms and legs beyond the range of motion that is comfortable for most people.
• Mitral valve prolapse. Mitral valve prolapse, a disorder in which one of your heart valves doesn't close properly, has been reported in people with Stickler syndrome. Your doctor may detect this condition while listening to your child's heart with a stethoscope.

Molecular genetic testing may be used to identify the mutant genes associated with Stickler syndrome, but it's not commonly used to diagnose this disorder. However, it's occasionally used to confirm a suspected diagnosis or for prenatal diagnosis.

Complications

Some of the more severe complications of Stickler syndrome may develop in your child's eyes:

• Glaucoma. Glaucoma refers to an eye disorder characterized by pressure building within your eyeball. Increased pressure pinches the nerve that relays the signal for sight from the retina to your brain (optic nerve). Untreated glaucoma will eventually cause blindness.
• Retinal detachment. This is a serious eye complication resulting from Stickler syndrome. Retinal detachment occurs when the thin layer of tissue at the back of your eye (retina) pulls away from its nourishing collection of blood vessels, called the choroid. If left untreated, blindness will result.

Other potential complications include:

• Deafness. The hearing loss associated with Stickler syndrome may become more severe over time and can eventually result in deafness.
• Osteoarthritis. Swollen and painful joints may indicate that your child has premature onset of osteoarthritis, a condition in which the cartilage in the joints deteriorates. In severe cases, hip or knee joint replacement surgery may be necessary to replace your child's damaged joints.
• Ear infections. Children with facial structure abnormalities are more likely to develop ear infections than are children with normal facial features.
• Difficulty breathing or feeding. Children born with facial abnormalities that include an opening in the roof of the mouth (cleft palate), a large tongue and a small lower jaw (Robin's syndrome), may experience difficulty feeding or breathing.

Treatments and drugs

Treatment for Stickler syndrome focuses on addressing the signs and symptoms of the disorder. There's no cure for Stickler syndrome.

• Surgery. Babies born with a hole in the roof in their mouths (cleft palate) undergo surgery to repair the defect, usually nine months to a year after birth. During this procedure, tissue from the roof of the mouth may be stretched to cover the cleft palate. This surgery helps relieve problems feeding or breathing.
• Corrective lenses. Corrective lenses are important for treating the severe nearsightedness associated with Stickler syndrome. Some people notice better corrected vision with contact lenses than with glasses.
• Hearing aids. If your child has problems hearing, you may find that your child's quality of life is improved by wearing a hearing aid.
• Anti-inflammatory medications. Medications such as ibuprofen (Advil, Motrin, others), naproxen (Aleve, Naprosyn, others) and aspirin relieve joint swelling, stiffness and pain. Taking these medications before or after physical activity may help your child move more comfortably.

In addition to treating any signs and symptoms, your child will likely continue seeing doctors regularly for eye exams and hearing assessments to monitor whether his or her vision and hearing change over time.
Full article found here.

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.

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:

• 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.

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.

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.