Tag Archives: Infant

Palmar hyperhidrosis

Description:
Palmer hyperhidrosis is profuse perspiration (excessive sweating) of the palms.It is one form of focal hyperhidrosis, meaning profuse perspiration affecting one area of the body. Sweaty palms may be accompanied by profuse perspiration of the feet, forehead, ckeeks, armpits (axillae) or be part of general hyperhidrosis (profuse perspiration throughout the body). Hyperhidrosis refers to profuse perspiration beyond the body’s thermoregulatory (temperature control) needs.

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Palmer  hyperhidrosis is a common condition in which the eccrine (sweat) glands of the palms and soles secrete inappropriately large quantities of sweat. The condition may become socially and professionally debilitating. The condition usually is idiopathic  and  it begins in childhood and frequently runs in families.

Symptoms:
The intensity of symptoms may vary among sufferers and trigger factors should be carefully noted. Common symptoms  are :

*Perspiration of the hands can vary from mild clamminess to severe perspiration resulting in dripping sweat.
*Temperature differences of palmar surface compared to surface temperature of other parts of the body may be noted.
*Sloughing (peeling) of skin may be noted in profuse perspiration.
*Episodes of profuse perspiration may be followed by periods of extreme dryness on the palmar surface.
*Hyperhidrosis often starts in puberty, and family history is often reported.

The secondary effects of palmar hyperhidrosis can result in both psychosocial effects as well as difficulty in undertaking certain tasks or handling equipment. Sufferers of palmar hyperhidrosis are often reluctant to partake in socially expected actions like shaking hands or touching loved ones. The embarrassment of dealing with this condition can affect the level of interactivity in both social and work situations. Difficulties with holding objects, gripping equipment or soiling electronic devices like keyboards may affect functioning at work. Daily activities such as writing with a pen or counting cash notes is often difficult.

Causes:
Hyperhidrosis is either primary focal or secondary generalized.

1. Primary Palmar  Hyperhidrosis

Focal palmar hyperhidrosis is usually localized and is referred to as primary (essential, idiopathic), meaning no obvious cause, except strong family predisposition can be found (4,5), and affected persons are otherwise healthy . Sweating on other locations as feet, armpits and face may appear. Primary palmar hyperhidrosis is caused by overactivity of the sympathetic nervous system, primarily triggered by emotional causes including anxiety, nervousness, anger and fear .

There may be a significant reduction in perspiration during sleep or sedation.

2. Secondary Palmar Hyperhidrosis

In secondary palmar hyperhidrosis hands sweat due to an obvious underlying disorder like:

*Infections including local infections, tuberculosis and tinea ugunium.
*Neurological disorders like peripheral autonomic neuropathy
*Frostbite
*Arteriovenous Fistulas
*Acromegaly
*Acrodynia
*Complex Regional Pain Syndromes
*Pachyonychia Congenita
*Primary Hypertrophic osteoarthropathy
*Dyskeratosis Congenita
*Blue rubber-bleb nevus
*Glomus tumor

*Secondary palmar hyperhidrosis as part of generalized hyperhidrosis due to  several  hormonal causes (diabetes, hyperthyroidism, thyrotoxicosis, menstruation, menopause), metabolic disorders, malignant disease (lymphoma, pheochromocitoma), autoimmune disorders (rheumatoid arthritis, systemic lupus erythrematosus), drugs like hypertensive drugs and certain classes of antidepressants (list of medications causing hyperhidrosis), chronic use of alcohol, Parkinson’s disease, neurological disorders (toxic neuropathy), homocystinuria, plasma cell disorders. Detailed list of conditions causing generalyzed hyperhidrosis.

How Sweat Glands Work:
In eccrine glands, the major substance enabling impulse conduction is acetylcholine, and in apocrine glands, they are catecholamines.

Body temperature is controlled by the thermoregulatory center in the hypothalamus and this is influenced not only by  by core body temperature but also by hormones, pyrogens, exercise and emotions.

Diagnosis:
The first step in diagnosing  the  Palmar  hyperhidrosis is to differentiate between generalized and focal hyperhidrosis.

A thorough case taking and medical history is usually sufficient to diagnose palmar hyperhidrosis and any trigger factors (scheduled drugs, narcotics, chronic alcoholism).

Diagnostic criteria for primary focal (including palmar) hyperhidrosis  are:

*Bilateral and relatively symmetric sweating
*Frequency of at least 1 episode per week
*Impairment of daily activities
*Age at onset before 25 years
*Family history
*Cessation of sweating during sleep

Tests may include:
*Hematological studies may be necessary to identify thyroid disorders (thyroid function test for T3 and T4 as well as thyroid antibodies) and diabetes (fasting blood glucose or a glucose tolerance test).

*X-rays and MRI scans will assist for diagnosing tuberculosis, pneumonia and tumors.

*Superficial electroconductivity can be monitored as any hyperhidrosis reduces skin electrical resistance.

*Thermoregulatory sweat test uses moisture-sensitive indicator powder to monitor moisture. Changes in the color of the powder at room temperature will highlight areas of increased perspiration.

Treatment:
Conservative management should be coupled with prescribed treatment by the Doctor to reduce the symptoms.

*Counseling may be effective in managing primary palmar hyperhidrosis in cases of mental-emotional etiology.

*Trigger foods and aggravating factors should be noted if possible and relevant dietary changes should be implemented.

*Effective prevention of secondary palmar hyperhidrosis is difficult with conservative management and drug therapy or surgery may be required.

*Excessive physical activity and extremes of heat may be two trigger factors that should be avoided as far as possible.

*In cases of diabetes, a glucose controlled diet with low glycemic index may improve glucose tolerance which could assist with palmar hyperhidrosis.

*Abstinence from alcohol and narcotics is advisable if it is the causative factor for sweaty palms.

*Stimulants such as caffeine and nicotine may aggravate palmar hypehidrosis and should relevant dietary and lifestyle changes should be implemented.

*Anti-perspirant compounds like aluminum chloride can be applied on the palms to reduce moisture or palmar surfaces. Recent research on an aluminum sesquichlorohydrate foam has shown that it is effective in reducing sweat in palmar hyperhidrosis

Treatment remains a challenge: options include topical and systemic agents, iontophoresis, and botulinum toxin type A injections, with surgical sympathectomy as a last resort. None of the treatments is without limitations or associated complications. Topical aluminum chloride hexahydrate therapy and iontophoresis are simple, safe, and inexpensive therapies; however, continuous application is required because results are often short-lived, and they may be insufficient. Systemic agents such as anticholinergic drugs are tolerated poorly at the dosages required for efficacy and usually are not an option because of their associated toxicity. While botulinum toxin can be used in treatment-resistant cases, numerous painful injections are required, and effects are limited to a few months.

Standard therapeutic protocol may differ among cases of palmar hyperhidrosis depending on medical history and underlying pathology.

*Anticholinergic drugs have a direct effect on the sympathetic nervous system although there are numerous side effects.

*Treatment should be directed at contributing factors.

*Ionophoresis involves the use of electrotherapeutic measures to reduce the activity of sweat glands.

*Botulinum injections at the affected area may be useful for its anticholinergic effects.

*Surgery should be considered if drug therapy proves ineffective. Endoscopic transthoracic sympathectomy involves resection of the sympathetic nerve supply to the affected area. This prevents nerve stimulation of the sweat gland of the palms. However surgery has a host of complications including exacerbating the problem or increasing generalized hyperhidrosis.

Surgical sympathectomy should be reserved for the most severe cases and should be performed only after all other treatments have failed. Although the safety and reliability of treatments for palmoplantar hyperhidrosis have improved dramatically, side effects and compensatory sweating are still common, potentially severe problems.

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Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.aafp.org/afp/2004/0301/p1117.html

Causes and Treatment of Palmar Hyperhidrosis – Sweaty Palms/Hands

Alagille Syndrome

Description:
Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 100,000 live births.It is named after Daniel Alagille.

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A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. The liver is the organ in the abdomen—the area between the chest and hips—that makes blood proteins and bile, stores energy and nutrients, fights infection, and removes harmful chemicals from the blood.

Bile ducts are tubes that carry bile from the liver cells to the gallbladder for storage and to the small intestine for use in digestion. Bile is fluid made by the liver that carries toxins and waste products out of the body and helps the body digest fats and the fat-soluble vitamins A, D, E, and K. In people with Alagille syndrome, the decreased number of bile ducts causes bile to build up in the liver, a condition also called cholestasis, leading to liver damage and liver disease.

The digestive system:
The digestive system is made up of the gastrointestinal (GI) tract—also called the digestive tract—and the liver, pancreas, and gallbladder. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestine—which includes the colon and rectum—and anus. Food enters the mouth and passes to the anus through the hollow organs of the digestive system. The liver, pancreas, and gallbladder are the solid organs of the digestive system. The digestive system helps the body digest food.
Symptoms:
The symptoms of Alagille syndrome and their severity vary, even among people in the same family sharing the same gene mutation.

Liver:  In some people, problems in the liver may be the first signs and symptoms of the disorder. These symptoms can occur in children and adults and in infants as early as the first 3 months of life.
Jaundice. Jaundice—when the skin and whites of the eyes turn yellow—is a result of the liver not removing bilirubin from the blood. Bilirubin is a reddish-yellow substance formed when hemoglobin breaks down. Hemoglobin is an iron-rich protein that gives blood its red color. Bilirubin is absorbed by the liver, processed, and released into bile. Blockage of the bile ducts forces bilirubin and other elements of bile to build up in the blood.
Jaundice may be difficult for parents and even health care providers to detect. Many healthy newborns have mild jaundice during the first 1 to 2 weeks of life due to an immature liver. This normal type of jaundice disappears by the second or third week of life, whereas the jaundice of Alagille syndrome deepens. Newborns with jaundice after 2 weeks of life should be seen by a health care provider to check for a possible liver problem.
Dark urine and gray or white stools. High levels of bilirubin in the blood that pass into the urine can make the urine darker, while stool lightens from a lack of bilirubin reaching the intestines. Gray or white bowel movements after 2 weeks of age are very reliable signs of a liver problem.
Pruritus. The buildup of bilirubin in the blood may cause itching, also called pruritus. Pruritus usually starts after 3 months of age and can be severe.
Xanthomas. Xanthomas are fatty deposits that appear as yellow bumps on the skin. They are caused by abnormally high cholesterol levels in the blood, common in people with liver disease. Xanthomas may appear anywhere on the body. However, xanthomas are usually found on the elbows, joints, tendons, knees, hands, feet, or buttocks.
Other Symptoms of Alagille Syndrome are:
Certain signs of Alagille syndrome are unique to the disorder, including those that affect the vertebrae and facial features.

Face.  Many children with Alagille syndrome have deep-set eyes, a straight nose, a small and pointed chin, large ears, and a prominent, wide forehead. These features are not usually recognized until after infancy. By adulthood, the chin is more prominent.

Eyes. Posterior embryotoxon is a condition in which an opaque ring is present in the cornea, the transparent covering of the eyeball. The abnormality is common in people with Alagille syndrome, though it usually does not affect vision.

Skeleton. The most common skeletal defect in a person with Alagille syndrome is when the shape of the vertebrae—bones of the spine—gives the appearance of flying butterflies. This defect, known as “butterfly” vertebrae, rarely causes medical problems or requires treatment.

Heart and blood vessels. People with Alagille syndrome may have the following signs and symptoms having to do with the heart and blood vessels:

heart murmur—an extra or unusual sound heard during a heartbeat. A heart murmur is the most common sign of Alagille syndrome other than the general symptoms of liver disease.1 Most people with Alagille syndrome have a narrowing of the blood vessels that carry blood from the heart to the lungs.1 This narrowing causes a murmur that can be heard with a stethoscope. Heart murmurs usually do not cause problems.

heart walls and valve problems. A small number of people with Alagille syndrome have serious problems with the walls or valves of the heart. These conditions may need treatment with medications or corrective surgery.

blood vessel problems. People with Alagille syndrome may have abnormalities of the blood vessels in the head and neck. This serious complication can lead to internal bleeding or stroke. Alagille syndrome can also cause narrowing or bulging of other blood vessels in the body.
Kidney disease. A wide range of kidney diseases can occur in Alagille syndrome. The kidneys are two bean-shaped organs, each about the size of a fist, that filter wastes and extra fluid from the blood. Some people have small kidneys or have cysts—fluid-filled sacs—in the kidneys. Kidney function can also decrease.
Causes:
Alagille syndrome is caused by a gene mutation, or defect. Genes provide instructions for making proteins in the body. A gene mutation is a permanent change in the DNA sequence that makes up a gene. DNA, or deoxyribonucleic acid, is the material inside cells that carries genetic information and passes genes from parent to child. Approximately 30 to 50 percent of people with Alagille syndrome have an inherited gene mutation, meaning it has been passed on by a parent. In the remaining cases, the gene mutation develops spontaneously.1 In spontaneous cases, neither parent carries a copy of the mutated gene.

Most cases of Alagille syndrome are caused by a mutation in the JAGGED1 (JAG1) gene. In less than 1 percent of cases, a mutation in the NOTCH2 gene is the cause.2

1Spinner NB, Leonard LD, Krantz ID. Alagille syndrome. GeneReviews website. www.ncbi.nlm.nih.gov/books/NBK1273/External NIH Link. Updated February 28, 2013. Accessed July 16, 2014.

2Kamath BM, Bauer RC, Loomes KM, et al. NOTCH2 mutations in Alagille syndrome. Journal of Medical Genetics. 2012;49(2):138–144.
Genetic Disorders: 
Each cell contains thousands of genes that provide the instructions for making proteins for growth and repair of the body. If a gene has a mutation, the protein made by that gene may not function properly, which sometimes creates a genetic disorder. Not all gene mutations cause a disorder.

People have two copies of most genes; one copy is inherited from each parent. A genetic disorder occurs when one or both parents pass a mutated gene to a child at conception. A genetic disorder can also occur through a spontaneous gene mutation, meaning neither parent carries a copy of the mutated gene. Once a spontaneous gene mutation has occurred in a person, it can be passed to the person’s children.
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Complications:
The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below.:-

Liver failure. Over time, the decreased number of bile ducts may lead to chronic liver failure, also called end-stage liver disease. This condition progresses over months, years, or even decades. The liver can no longer perform important functions or effectively replace damaged cells. A person may need a liver transplant. A liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor.

Portal hypertension. The spleen is the organ that cleans blood and makes white blood cells. White blood cells attack bacteria and other foreign cells. Blood flow from the spleen drains directly into the liver. When a person with Alagille syndrome has advanced liver disease, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may become larger in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal hypertension can lead to serious bleeding problems.

Growth problems. Alagille syndrome can lead to poor growth in infants and children, as well as delayed puberty in older children. Liver disease can cause malabsorption, which can result in growth problems. Malabsorption is the inability of the small intestine to absorb nutrients from foods, which results in protein, calorie, and vitamin deficiencies. Serious heart problems, if present in Alagille syndrome, can also affect growth.

Malabsorption. People with Alagille syndrome may have diarrhea—loose, watery stools—due to malabsorption. The condition occurs because bile is necessary for the digestion of food. Malabsorption can lead to bone fractures, eye problems, blood-clotting problems, and learning delays.

Long-term Outlook:
The long-term outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems. Predicting who will experience improved bile flow and who will progress to chronic liver failure is difficult. Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant.

Many adults with Alagille syndrome whose symptoms improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by chronic liver failure, heart problems, and blood vessel problems.

Diagnosis:
The Doctor diagnoses Alagille syndrome by performing a thorough physical examination of the patient and ordering one or more of the following tests and exams:

Blood test. A blood test involves drawing blood at a health care provider’s office or a commercial facility and sending the sample to a lab for analysis. The blood test can show nutritional status and the presence of liver disease and kidney function.

Urinalysis. Urinalysis is the testing of a urine sample. The urine sample is collected in a special container in a health care provider’s office or a commercial facility and can be tested in the same location or sent to a lab for analysis. Urinalysis can show many problems of the urinary tract and other body systems. The sample may be observed for color, cloudiness, or concentration; signs of drug use; chemical composition, including glucose; the presence of protein, blood cells, or bacteria; or other signs of disease.

X ray. An x ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. An x-ray technician performs the x ray at a hospital or an outpatient center, and a radiologist—a doctor who specializes in medical imaging—interprets the images. Anesthesia is not needed. The patient will lie on a table or stand during the x ray. The technician positions the x-ray machine over the spine area to look for “butterfly” vertebrae. The patient will hold his or her breath as the picture is taken so that the picture will not be blurry. The patient may be asked to change position for additional pictures.

Abdominal ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The transducer can be moved to different angles to make it possible to examine different organs. In abdominal ultrasound, the health care provider applies a gel to the patient’s abdomen and moves a handheld transducer over the skin. The gel allows the transducer to glide easily, and it improves the transmission of the signals. A specially trained technician performs the procedure in a health care provider’s office, an outpatient center, or a hospital, and a radiologist interprets the images; anesthesia is not needed. The images can show an enlarged liver or rule out other conditions.

Cardiology exam. A cardiologist—a doctor who treats people who have heart problems—performs a cardiology exam in a health care provider’s office, an outpatient center, or a hospital. During a full exam, a cardiologist may inspect the patient’s physical appearance, measure pulse rate and blood pressure, observe the jugular vein, check for rapid or skipped heartbeats, listen for variations in heart sounds, and listen to the lungs.

Slit-lamp exam. An ophthalmologist—a doctor who diagnoses and treats all eye diseases and eye disorders—performs a slit-lamp exam to diagnose posterior embryotoxon. The ophthalmologist examines the eye with a slit lamp, a microscope combined with a high-intensity light that shines a thin beam on the eye. While sitting in a chair, the patient will rest his or her head on the slit lamp. A yellow dye may be used to examine the cornea and tear layer. The dye is applied as a drop, or the specialist may touch a strip of paper stained with the dye to the white of the patient’s eye. The specialist will also use drops in the patient’s eye to dilate the pupil.

Liver biopsy. A liver biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to stop taking certain medications temporarily before the liver biopsy. The patient may be asked to fast for 8 hours before the procedure.

During the procedure, the patient lies on a table, right hand resting above the head. A local anesthetic is applied to the area where the biopsy needle will be inserted. If needed, sedatives and pain medication are also given. The health care provider uses a needle to take a small piece of liver tissue. The health care provider may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient should lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home.

Genetic testing. The health care provider may refer a person suspected of having Alagille syndrome to a geneticist—a doctor who specializes in genetic disorders. For a genetic test, the geneticist takes a blood or saliva sample and analyzes the DNA for the JAG1 gene mutation. The geneticist tests for the JAG1 gene mutation first, since it is more common in Alagille syndrome than NOTCH2. Genetic testing is often done only by specialized labs. The results may not be available for several months because of the complexity of the testing.

The usefulness of genetic testing for Alagille syndrome is limited by two factors:

*Detection of a mutated gene cannot predict the onset of symptoms or how serious the disorder will be.

*Even if a mutated gene is found, no specific cure for the disorder exists.

When to Consider Genetic Counseling:
People who are considering genetic testing may want to consult a genetics counselor. Genetic counseling can help family members understand how test results may affect them individually and as a family. Genetic counseling is provided by genetics professionals—health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals include geneticists, genetics counselors, and genetics nurses.

Genetics professionals work as members of health care teams, providing information and support to individuals or families who have genetic disorders or a higher chance of having an inherited condition. Genetics professionals

*assess the likelihood of a genetic disorder by researching a family’s history, evaluating medical records, and conducting a physical exam of the patient and
*other family members

*weigh the medical, social, and ethical decisions surrounding genetic testing

*provide support and information to help a person make a decision about testing

*interpret the results of genetic tests and medical data

*provide counseling or refer individuals and families to support services

*serve as patient advocates

*explain possible treatments or preventive measures

*discuss reproductive options

Genetic counseling may be useful when a family member is deciding whether to have genetic testing and again later when test results are available.

Treatment:
Treatment for Alagille syndrome includes medications and therapies that increase the flow of bile from the liver, promote growth and development in infants’ and children’s bodies, correct nutritional deficiencies, and reduce the person’s discomfort. Ursodiol (Actigall, Urso) is a medication that increases bile flow. Other treatments address specific symptoms of the disorder.

Liver failure. People with Alagille syndrome who develop end-stage liver failure need a liver transplant with a whole liver from a deceased donor or a segment of a liver from a living donor. People with Alagille syndrome who also have heart problems may not be candidates for a transplant because they could be more likely to have complications during and after the procedure. A liver transplant surgical team performs the transplant in a hospital.

Pruritus. Itching may decrease when the flow of bile from the liver is increased. Medications such as cholestyramine (Prevalite), rifampin (Rifadin, Rimactane), naltrexone (Vivitrol), or antihistamines may be prescribed to relieve pruritus. People should hydrate their skin with moisturizers and keep their fingernails trimmed to prevent skin damage from scratching. People with Alagille syndrome should avoid baths and take short showers to prevent the skin from drying out.

If severe pruritus does not improve with medication, a procedure called partial external biliary diversion may provide relief from itching. The procedure involves surgery to connect one end of the small intestine to the gallbladder and the other end to an opening in the abdomen—called a stoma—through which bile leaves the body and is collected in a pouch. A surgeon performs partial external biliary diversion in a hospital. The patient will need general anesthesia.

Malabsorption and growth problems. Infants with Alagille syndrome are given a special formula that helps the small intestine absorb much-needed fat. Infants, children, and adults can benefit from a high-calorie diet, calcium, and vitamins A, D, E, and K. They may also need additional zinc. If someone with Alagille syndrome does not tolerate oral doses of vitamins, a health care provider may give the person injections for a period of time. A child may receive additional calories through a tiny tube that is passed through the nose into the stomach. If extra calories are needed for a long time, a health care provider may place a tube, called a gastrostomy tube, directly into the stomach through a small opening made in the abdomen. A child’s growth may improve with increased nutrition and flow of bile from the liver.

Xanthomas. For someone who has Alagille syndrome, these fatty deposits typically worsen over the first few years of life and then improve over time. They may eventually disappear in response to partial external biliary diversion or the medications used to increase bile fl

Prevention:
Scientists have not yet found a way to prevent Alagille syndrome. However, complications of the disorder can be managed with the help of Doctors. Routine visits with Doctor are needed to prevent complications from becoming worse.

Hope through Research:The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and other Institutes of the National Institutes of Health (NIH) conduct and support research in digestive disorders, including Alagille syndrome. For example, the NIDDK is sponsoring a study called Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC). Funded under NIH clinical trial number NCT00571272, LOGIC will investigate the progression of cholestatic liver diseases, which can sometimes be caused by Alagille syndrome. The study will work to provide a better understanding of the causes and effects of these liver diseases, which will promote the development of prevention tactics and treatment strategies.

Clinical trials are research studies involving people. Clinical trials look at safe and effective new ways to prevent, detect, or treat disease. Researchers also use clinical trials to look at other aspects of care, such as improving the quality of life for people with chronic illnesses. To learn more about clinical trials, why they matter, and how to participate, visit the NIH Clinical Research Trials and You website at www.nih.gov/health/clinicaltrialsExternal NIH Link. For information about current studies,…click & see

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.
Resources:
http://en.wikipedia.org/wiki/Alagille_syndrome
http://www.niddk.nih.gov/health-information/health-topics/liver-disease/Alagille-Syndrome/Pages/facts.aspx

 

Pilonidal sinus

 

Alternative Names:pilonidal cyst, pilonidal abscess or sacrococcygeal fistula

Definition:
A pilonidal sinus is a dimple in the skin in the crease of your child’s buttocks.

This may be noted at birth as a depression or hairy dimple and be present for many years without any symptoms.
Pilonidal sinus affect men more often and most commonly occur in young adults.


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Two pilonidal cysts in the natal cleft
A pilonidal sinus may also occur due to a blockage in the hair follicles, often associated with an ingrown hair.
In both situations, hair acts as a foreign body, which may produce an infection. The infection may spread into the tissues of your child’s buttocks and produce an abscess (collection of pus under the skin) at a site several inches away from the sinus.

Pilonidal means “nest of hair”, and is derived from the Latin words for hair (“pilus”) and nest (“nidus”).The term was used by Herbert Mayo as early as 1830. R.M. Hodges was the first to use the phrase “pilonidal cyst” to describe the condition in 1880.

Symptoms:
A pilonidal sinus may cause no noticeable symptoms (asymptomatic). The only sign of its presence may be a small pit on the surface of the skin.

When it’s infected, a pilonidal sinus becomes a swollen mass (abscess). Signs and symptoms of an infected pilonidal cyst include:

*Pain
*Localized swelling
*Reddening of the skin
*Drainage of pus or blood from an opening in the skin (pilonidal sinus)
*Foul smell from draining pus

Hair protruding from a passage (tract) below the surface of the skin that connects the infected pilonidal cyst to the opening on the skin’s surface (a pilonidal sinus) — more than one sinus tract may form
Fever (uncommon)

Causes:
Quite why it happens isn’t entirely clear. When they occur in the cleft between the buttocks, one popular explanation is that there’s a developmental defect in the direction that the hair grows – that is, the hair grows inwards rather than outwards.

One proposed cause of pilonidal cysts is ingrown hair. Excessive sitting is thought to predispose people to the condition because they increase pressure on the coccyx region. Trauma is not believed to cause a pilonidal cyst; however, such an event may result in inflammation of an existing cyst. However there are cases where this can occur months after a localized injury to the area. Some researchers have proposed that pilonidal cysts may be the result of a congenital pilonidal dimple. Excessive sweating can also contribute to the cause of a pilonidal cyst.

The condition was widespread in the United States Army during World War II. More than eighty thousand soldiers having the condition required hospitalization.  It was termed “jeep seat or “Jeep riders’ disease”, because a large portion of people who were being hospitalized for it rode in jeeps, and prolonged rides in the bumpy vehicles were believed to have caused the condition due to irritation and pressure on the coccyx.

Risk Factors:
Certain factors can make you more susceptible to developing pilonidal cysts. These include:

*Obesity
*Inactive lifestyle
*Occupation or sports requiring prolonged sitting
*Excess body hair
*Stiff or coarse hair
*Poor hygiene
*Excess sweating

Complications:
If a chronically infected pilonidal cyst isn’t treated properly, there may be an increased risk of developing a type of skin cancer called squamous cell carcinoma.

Differential diagnosis
A pilonidal sinus can resemble a dermoid cyst, a kind of teratoma (germ cell tumor). In particular, a pilonidal cyst in the gluteal cleft can resemble a sacrococcygeal teratoma. Correct diagnosis is important because all teratomas require complete surgical excision, if possible without any spillage, and consultation with an oncologist.

Treatment :
Treatment may include antibiotic therapy, hot compresses and application of depilatory creams.

In more severe cases, the cyst may need to be lanced or surgically excised (along with pilonidal sinus tracts). Post-surgical wound packing may be necessary, and packing typically must be replaced twice daily for 4 to 8 weeks. In some cases, one year may be required for complete granulation to occur. Sometimes the cyst is resolved via surgical marsupialization.

Surgeons can also excise the sinus and repair with a reconstructive flap technique, which is done under general anesthetic. This approach is mainly used for complicated or recurring pilonidal disease, leaves little scar tissue and flattens the region between the buttocks, reducing the risk of recurrence.

Picture of Pilonidal cyst two days after surgery.

A novel and less destructive treatment is scraping the tract out and filling it with fibrin glue. This has the advantage of causing much less pain than traditional surgical treatments and allowing return to normal activities after 1–2 days in most cases.

Pilonidal cysts recur and do so more frequently if the surgical wound is sutured in the midline, as opposed to away from the midline, which obliterates the natal cleft and removes the focus of shearing stress.

Prevention:
To prevent future pilonidal sinus from developing:

*Clean the area daily with glycerin soap, which tends to be less irritating. Rinse the area thoroughly to remove any soapy residue. Washing briskly with a washcloth helps keep the area free of hair accumulation.

*Keep the area clean and dry. Powders may help, but avoid using oils or herbal remedies.
Avoid sitting for long periods of time.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://en.wikipedia.org/wiki/Pilonidal_sinus
http://www.mayoclinic.com/health/pilonidal-cyst/DS00747
http://www.bbc.co.uk/health/physical_health/conditions/pilonidalsinus.shtml
http://www.childrenshospital.org/az/Site923/mainpageS923P0.html

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Oral thrush

Alternative Names: Candidiasis – oral; Oral thrush; Fungal infection – mouth; Candide – oral

Definition:
Oral thurs  is an infection of yeast fungi of the genus Candida on the mucous membranes of the mouth and tongue. It is frequently caused by Candida albicans, or less commonly by Candida glabrata or Candida tropicalis. Oral thrush may refer to candidiasis in the mouths of babies, while if occurring in the mouth or throat of adults it may also be termed candidosis or moniliasis…

 

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Although oral thrush can affect anyone, it’s more likely to occur in babies and people who wear dentures, use inhaled corticosteroids or have compromised immune systems. Oral thrush is a minor problem if you’re healthy, but if you have a weakened immune system, symptoms of oral thrush may be more severe and difficult to control.

Symtoms:
Signs and symptoms of oral infection by Candida species may not be immediately noticeable but can develop suddenly and may persist for a long time. The infection usually appears as thick white or cream-colored deposits on mucosal membranes such as the tongue, inner cheeks, gums, tonsils, and palate. The infected mucosa may appear inflamed (red and possibly slightly raised) and sometimes have a cottage cheese-like appearance. The lesions can be painful and will become tender and often bleed if rubbed or scraped. Cracking at the corners of the mouth, a cottony-like sensation inside the mouth, and even temporary loss of taste can occur.

In more severe cases, the infection can spread down the esophagus and cause difficulty swallowing – this is referred to as Esophageal candidiasis. Thrush does not usually cause a fever unless the infection has spread beyond the esophagus to other body parts, such as the lungs (systemic candidiasis).

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In addition to the distinctive lesions, infants can become irritable and may have trouble feeding. The infection can be communicated during breast-feeding to and from the breast and the infant’s mouth repeatedly

Causes:
Thrush is caused by forms of a fungus called Candida. A small amount of this fungus lives in your mouth most of the time. It is usually kept in check by your immune system and other types of germs that also normally live in your mouth.

 

However, when your immune system is weaker, the fungus can grow, leading to sores (lesions) in your mouth and on your tongue. The following can increase your chances of getting thrush:

•Taking steroid medications
•Having an HIV infection or AIDS
•Receiving chemotherapy for cancer or drugs to suppress your immune system following an organ transplant
•Being very old or very young
•Being in poor health
Thrush is commonly seen in infants. It is not considered abnormal in infants unless it lasts longer than a couple of weeks.

Candida can also cause yeast infections in the vagina.

People who have diabetes and had high blood sugar levels are more likely to get thrush in the mouth (oral thrush), because the extra sugar in your saliva acts like food for Candida.

Taking high doses of antibiotics or taking antibiotics for a long time also increases the risk of oral thrush. Antibiotics kill some of the healthy bacteria that help keep Candida from growing too much.

People with poorly fitting dentures are also more likely to get thrush.

Risk Factors:
*Newborn babies.

*Diabetics with poorly controlled diabetes.

*As a side effect of medication, most commonly having taken antibiotics. Inhaled corticosteroids for treatment of lung conditions (e.g., asthma or COPD) may also result in oral candidiasis: the risk may be reduced by regularly rinsing the mouth with water after taking the medication.

*People with an immune deficiency (e.g. as a result of AIDS/HIV or chemotherapy treatment).

*Women undergoing hormonal changes, like pregnancy or those on birth control pills.

*Denture users.

*Tongue piercing

Complications:
Oral thrush is seldom a problem for healthy children and adults, although the infection may return even after it’s been treated. For people with compromised immune systems, however, thrush can be more serious.

If you have HIV, you may have especially severe symptoms in your mouth or esophagus, which can make eating painful and difficult. If the infection spreads to the intestines, it becomes difficult to receive adequate nutrition. In addition, thrush is more likely to spread to other parts of the body if you have cancer or other conditions that weaken the immune system. In that case, the areas most likely to be affected include the digestive tract, lungs and liver.

Diagnosis;
Oral thrush can usually be diagnosed simply by looking at the lesions, but sometimes a small sample is examined under a microscope to confirm the diagnosis.

In older children or adolescents who have no other identified risk factors, an underlying medical condition may be the cause of oral thrush. If your doctor suspects that to be the case, your doctor will perform a physical exam as well as recommend certain blood tests to help find the source of the problem.

If thrush is in your esophagus
Thrush that extends into the esophagus can be serious. To help diagnose this condition, your doctor may ask you to have one or more of the following tests:

*Throat culture. In this procedure, the back of your throat is swabbed with sterile cotton and the tissue sample cultured on a special medium to help determine which bacteria or fungi, if any, are causing your symptoms.

*Endoscopic examination. In this procedure, your doctor examines your esophagus, stomach and the upper part of your small intestine (duodenum), using a lighted, flexible tube with a camera on the tip (endoscope).

Treatment:
For thrush in infants, treatment is often NOT necessary. It generally gets better on its own within 2 weeks.

If you develop a mild case of thrush after taking antibiotics, eating yogurt or taking over-the-counter acidophilus capsules can help.

Use a soft toothbrush and rinse your mouth with a diluted 3% hydrogen peroxide solution several times a day.

Good control of blood sugar levels in persons with diabetes may be all that is needed to clear a thrush infection.

Your doctor may prescribe an antifungal mouthwash (nystatin) or lozenges (clotrimazole) to suck on if you have a severe case of thrush or a weakened immune system. These products are usually used for 5 – 10 days. If they don’t work, other medication may be prescribed.

If the infection has spread throughout your body or you have HIV/AIDS, stronger medications may be used, such as fluconazole (Diflucan) or ketoconazole (Nizoral).

Prognosis:
Thrush in infants may be painful, but is rarely serious. Because of discomfort, it can interfere with eating. If it does not resolve on its own within 2 weeks, call your pediatrician.

In adults, thrush that occurs in the mouth can be cured. However, the long-term outlook is dependent on your immune status and the cause of the immune deficit.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://www.nlm.nih.gov/medlineplus/ency/article/000626.htm
http://en.wikipedia.org/wiki/Oral_candidiasis
http://www.bbc.co.uk/health/physical_health/conditions/oralthrush2.shtml
http://www.mayoclinic.com/health/oral-thrush/DS00408

http://www.nlm.nih.gov/medlineplus/ency/imagepages/17284.htm

http://www.clivir.com/lessons/show/yeast-infection-in-mouth-and-throat.html

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New mom? Eat right and exercise

 

The thought, preparation and expense that go into “the great Indian wedding” are unbelievable. Yet barely have the stars faded from the new bride’s eyes than subtle pressure from parents, in-laws, spouse and well-wishers sets in. Everyone wants to hear the “good news” —a baby on the way. People don’t stop to think if the bride is ready for motherhood. And once the mother-to-be has been coddled through the pregnancy and everyone has oohed and aahed over the little bundle of joy, the excitement and interest fades. The new mother finds that she is totally unprepared for the drastic changes in her life after the birth of a baby. No one told her that she might have a baby that refuses to sleep at night or that she would feel and look like an elephant after childbirth.

A weight gain of between 12 to 14kg during pregnancy is normal and healthy. Many women expect all the extra kilos to disappear immediately after delivery. Actually, around 5kg (the weight of the baby and the placenta) will disappear immediately. The rest should disappear gradually within nine months.

Kegel exercise  is very much useful so that the pelvic floor muscles to remain shape & size.

 

It is very easy to start overeating after childbirth. Visitors arrive laden with delicious tidbits and vociferously advise rest and a high calorie diet to ensure adequate breast milk. In truth, breast-feeding requires only around 750 extra calories. Since brand new moms tend to be sedentary, their caloric intake should be limited to approximately 2,500 calories. Even though many women complain that they continue to “feel like a bloated elephant” after delivery, this is not the correct time to go on a drastic diet. Healthy eating and judicious exercise will ensure a gradual and safe return to pre-pregnancy weight.

Light aerobic exercise or walking can be started around two weeks after delivery, even by a person who did not exercise at all during pregnancy. But it is important not to do too much too soon. A hormone called relaxin, responsible for making the joints loose during pregnancy so that delivery is easy, persists in the body for about six months after delivery. So vigorous exercise should be started only after six months to avoid damaging joints. Walking 15 minutes a day is a good start. Increase the time by 15 minutes every week until you reach an hour. Endorphins released during walking will help to elevate the mood and combat any post partum depression. It will also help to tone the muscles. Exercise does not reduce breast milk production.

Pain in the genital and the caesarian site often comes as a shock. It makes going to the bathroom or even sitting an ordeal. Many are afraid to take medication (with reason) for fear that it might cross over in the breast milk to the newborn baby. Heat or cold applied locally to the area will relieve the pain. You can use an infra red lamp, a hot water bottle, or apply ice. The ice needs to be in a plastic bag or bottle. To prevent infection, always wash the area with water after going to the bathroom.

The skin over the abdomen may show white lines called stretch marks. These may itch. Applying coconut oil for half an hour before a bath helps.

These usually fade over time. If there is a scar (caesarian or episiotomy), it should be left alone until it has healed completely.

The hormones responsible for maintaining the pregnancy drop suddenly after childbirth. This abrupt change can lead to depression, bouts of crying and feelings of inadequacy. These usually last for around two weeks and then subside by themselves. If they last for a month or longer, then postnatal depression may have developed and a physician should be consulted.

The abdominal wall becomes lax during pregnancy. The abdomen itself may appear pendulous. Sits ups with the knees bend and oblique abdominal exercises will help with this. Start with 10 sets twice a day. Aim to reach 50 repetitions morning and evening within four months. You need to continue doing this exercise at least thrice a week.

A few drops of urine may leak out while coughing, sneezing or laughing. It may be difficult to hold the urine for even a limited time if the bladder is full. This is because the pelvic floor muscles become weakened during childbirth, making the sphincters, which control urination, lax. This can occur even if the delivery was by caesarian section.

These humiliating accidents can be tackled by doing “Keegles’s exercises”. Sit on the floor in the namaz position or in the yoga “child’s pose”. Touch the nose to the ground, concentrate on the pelvic muscles and consciously tighten them. Also, try to “stop and start” consciously while passing urine.

New mothers have lost a great deal of blood. The baby needs to be fed frequently so that sleep patterns are disturbed and often inadequate. Tiredness and fatigue are common and normal after childbirth. Try to sleep whenever the baby sleeps. And those colourful iron and calcium supplements need to be continued as long as you are feeding the baby.

Source: The Telegraph ( Kolkata, India)

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