Apert Syndrome

Apert Syndrome Apert syndrome is a disorder that is marked by abnormal growth of skull bones. It is a genetic disorder inherited by birth and the children with this syndrome will have markedly long head and distorted face. In addition to the abnormal skull such children would also have various other problems inherited by birth. Apert syndrome is caused by defective gene mutation and it cannot be cured.

Causes :

Defective gene mutation is the root cause of Apert syndrome. During the normal development of the fetus, the bones of the skull would eventually fuse together to give the right shape. But due to repeated gene mutation the skull bones would join together and close before reaching full development. This is can lead to intellectual disorders since the brain would have no chance for growing fully. However this is a rare disorder that occurs in one out of million births.

In many cases, the parents would be normal but carriers of defective genes but the child would get Apert syndrome due to spontaneous gene mutation. Often the FGFR2 gene present in the 10th chromosome undergoes repeated gene mutation causing this abnormal growth.

Symptoms :

The skull bones of the affected child would fuse before complete development leading to craniosynostosis. But the brain inside the skull would expand in the available space thereby exerting pressure on the skull and face. Prominent symptoms of Apert syndrome are abnormal growth of skull and face, high forehead, sunken face, bulging eyes and very low intellectual development. For some children it can also cause loss of hearing or chronic ear infections. The hands and feet of such children would be abnormally long with webbed hands (like a frog). In addition some children may also develop heart and urinary tract problems.

Diagnosis :

Mere physical examination of the newborn child is enough to detect Apert syndrome. In many cases, defective skull development can be diagnosed while routine scanning before delivery.

Treatment :

Apert syndrome is a birth defect causing distorted head and face and hence cannot be treated. Surgery can be done to prevent further damage. The surgeon would first cut open the skull and remove fusing of skull bones. Abnormally joined bones are separated and modified and the surgery carries absolute risk. Second surgery has to be done for repairing the facial bones.

The bones of jaw and cheeks are modified and brought forward to normal position. This surgery is performed during childhood. If needed, third surgery has to be done for further correction. Another surgery for repairing the abnormal bones of hands and feet need to be done. For children born with wide set eyes, corrective eye surgery is to be done.

Other method of treatment depends on development of symptoms. Some babies would have chronic dryness in their eyes for which eye drops should be applied for retaining moisture. Obstructive sleep apnea can be repaired by wearing a mask during night which is connected to a machine to clear the airway pressure. For preventing chronic ear infections, antibiotics are effective.

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Prognosis :

If the corrective surgery is performed before one year, the child would probably gain normal intelligence. Even then, certain features of the brain may not develop fully. With the motivation of parents and environment, the child who underwent repair surgery can attain normal intelligence level. There are children who have completed their school education and joined college with Apert syndrome.

For children with lower IQ there is every chance to develop behavioral problem. Lifespan of children with Apert syndrome varies considerably. Without any further complication in the heart the child who has successfully done with repair surgery on brain can survive and lead a normal life.

Anal Fistulas

Anal Fistulas Anal fistulas are small abscess or infected cavity is formed due to blockage of certain glands of the anus. Anus is the end portion of the digestive tract through which feces are expelled. The passage between the muscular opening of the anus and the skin gets infected to form an abscess. Anal fistulas are caused by abscess and it can cause pain during bowel movements with bleeding. It can be treated by surgery.

Causes :

Anal abscess is the major cause for the formation of anal fistulas. In some people Crohn’s disease or sexually transmitted disease can cause anal fistulas. Even infectious disease like tuberculosis or sudden trauma can trigger to form an abscess leading to anal fistulas.

Symptoms :

Some of the signs of anal fistulas include formation of anal abscess, bleeding, pain during bowel movements, inflammation around the anus and pus drainage with foul smell is seen from the small opening of the anus. Some people may develop fever and fatigue.

Anal fistulas can cause irritation of the skin surrounding the anus and a throbbing pain which increases when the person sits down or coughs. Often it can cause bleeding while making bowel movements. In case you have developed anal fistulas due to Crohn’s disease you can have symptoms like diarrhea, loss of appetite, nausea, vomiting and weight loss.

Diagnosis :

Your doctor will examine the anal region closely to check if there is any external opening of the skin in that region. He would then find out the depth of the fistula. In some cases he would use special device called anoscopy to view the inner portions of anus. He may order for other tests like ultrasound or MRI scan of the anal/rectum area. To check if the fistulas are formed due to Crohn’s disease he may order for series of tests like blood test, X-ray and colonoscopy to determine if there is inflammation of the intestine.

Types :

Anal fistula can be either simple type (when there is only one fistula tract) or complex type (if there are multiple connections) and it can be placed low or high position.

Based on the location of fistulas over the sphincter muscles, they are classified into two types.

If the fistula tract crosses the sphincter muscles to open on the skin surface next to anus, it is called Intersphincteric fistula.

Sometimes, fistulas cross both internal and external sphincter muscles to form trans-sphincteric fistula.

Treatment :

Various methods of treatment are available for anal fistulas. The mode of treatment varies with that of the location of the abscess. The ultimate aim of treating fistulas is to drain the abscess and prevent further occurrence.

• Fistulotomy :

This is the procedure in which the surgeon cuts open the fistula and drains the abscess along with infected tissue. He would then fix it in place by sutures. In more severe cases the surgeon would remove some portion of infected channel.

• Rectal Flap :

A flap or covering is created out of the rectal wall. The fistula is then opened and repaired and the flap is gently placed over the area to close the repair.

• Seton Repair :

Your surgeon would place a seton or silk string directly into the fistula so that it helps in draining the pus. In some cases special glue made out of fibrin or collagen is injected into the fistula’s opening and sealed. If the fistula is located between the two sphincter muscles, the surgeon would complete the process in two stages. In the first session, a seton is placed into the fistula and after few weeks, the infected tissue is removed and the opening is closed.

Often, surgery for anal fistula is done on outpatient basis and only for severe cases the patient will be hospitalized. You can feel some pain/discomfort on the anal region after surgery. Follow the instructions of your surgeon in taking medications for managing pain. You can sit on a warm bath for few minutes daily and use laxatives for some days to avoid straining while passing stool.

Proteus Syndrome

Proteus Syndrome Proteus syndrome is a rare disorder that affects the normal growth of the bones progressively. It causes abnormal growth of the skin adipose and central nervous system. The baby with Proteus syndrome would have normal bone growth during birth but when it reaches 1 year or 2 the bones of hands and feet would grow abnormal in size. It would have unequal growth of bones in his hands or feet. The growth of skeleton can be mild or very severe progressing as the child grows.

In addition to the abnormal growth of skeleton, some of the organs and tissues can grow disproportionately. The overall growth of the bones may not he symmetric on right and left sides of the body causing distorted and bizarre shape. However Proteus syndrome is a very rare disorder affecting 1 out of million births.

Symptoms :

There are 3 categories of symptoms for the child with Proteus syndrome. The disease would progress over time and it would be sporadic (random or erratic) in occurrence. There would be mosaic distribution pattern in the body.

• First Category :

There would be cerebriform connective tissue nevus. It is nothing but abnormal growth of skin that develops as a raised thick lesion on the body. It is seen on the feet of the child.

• Second Category :

There would be asymmetric or dissimilar growth on the limbs or skull or auditory canal and there can be tumors in specific parts during the first 3 years of the child.

• Category 3 :

It can cause lung bullea and vascular malformations in capillary or venous or lymphatic system. Blood vessels may grow abnormally in size in some parts with extra fat deposits called adipose tissue.

The child may develop deep vein thrombosis or pulmonary embolism (swelling of lungs) in future. A child would have combination of 2 categories for the minimum. Some children may develop neurological issues like seizures and low intelligence as they grow due to Proteus syndrome. And there is no evidence to prove that the second child would develop Proteus syndrome, if you have already one child with this disorder.

Causes :

Mosaic alteration is the causative factor for Proteus syndrome. The gene AKT1 undergoes mutation causing changes in the genetic code. Parents of the affected child would have normal genes and chromosomes and this disorder is not caused during pregnancy or any other factor.

Every cell in the body has its own copy of genes. During genetic or mosaic alteration some of the genetic codes remain changed and others are not. This leads to asymmetric growth of bone size in different parts of the body. In other words, some parts of the body would remain normal and others would be abnormal. And interestingly, Proteus syndrome will not cause similar abnormality in all the affected individuals.

AKT1 gene is responsible for causing this syndrome. During the early stages of development inside the mother’s womb AKT1 gene undergoes random mutation. During cell division some of the cells would undergo mutation and others do not. This is known as mosaic distribution (random) of problematic genes in the body. Again this particular AKT1 gene is responsible for cell division and cell death. But this specific gene undergoes repeated mutation and division accumulating on the dead cells causing fatty deposits.

Diagnosis :

Proteus syndrome can be identified by looking at the following 3 criteria in the affected child.

 There should be mosaic distribution in the body, meaning the growth would be normal in some parts and abnormal in other parts.

Sporadic occurrence would be there in the body indicating this overgrowth is random or erratic. Father and mother would not have such abnormality or no other sister/brother would have similar growth in the family.

The child would appear normal during birth and overgrowth would be progressive. The body parts would overgrow as the child grows and one can find new areas of the body appears to be overgrown. Excess of growth progresses over time.

A child having all the 3 features given above is considered to have Proteus syndrome.

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Treatment :

• Treatment of Proteus syndrome requires expertise from various fields of medical discipline.


• The disorder cannot be cured and treated fully but the overgrowth can be prevented further by medical intervention.


• In most of the cases, surgery is needed to amputate the overgrown bones in the hands or feet.


• Any abnormal growth of lesions on the skin can be treated by cryotherapy.


• Orthopedic surgery can be done to stop the overgrowth of bones. Skin doctor is consulted to treat dermatological infections and lesions overgrowth on the body.


• Physiotherapy is given for children having mobility problems. Physiotherapy is effective for the child that has irregular size of hands or fingers. The child having asymmetric growth of foot can wear specially designed footwear.


• For children or adults having lung infections, pulmonologist is to be consulted.


• Prolonged medical care and regular checkups are needed until complete repair has been done.


• Generally prognosis of children affected with Proteus syndrome is good but if the symptoms are very severe not much repair can be done.

Smallpox

Smallpox Smallpox is a viral infection and was considered to be the most infectious diseases killing hundreds of people around the world. Spread of smallpox has been drastically reduced after global immunization champagne in 1980. It is highly contagious disease and remained a threat for humans for thousands of years. Smallpox produces symptoms of red spots on your face and other body parts, with fever and headache. There is no cure for smallpox. And people who get infected with smallpox mostly recover except few who may die. Vaccine is available for smallpox but owing to its side effects it cannot be given to all.

Symptoms :

Initial symptoms of smallpox begin within few days of being infected with virus. The person can still remain healthy without any symptoms for 10-15 days during the incubation period. Further there would be flu like symptoms with high fever, chills, headache, body pain, and overall discomfort. In addition smallpox is characterized with small red spots all over the body which usually develops from the face and further spreads to hands, forearms, trunk and feet. These red spots will form pus like liquid which may ooze out within few days. This is the worst period of spreading the infection to others.

Causes :

Smallpox is caused by variola virus and is highly contagious. The infection can spread easily from one person to another through air droplets or particles while the infected person sneezes or coughs. The virus can also spread through air to other people of the family and it spreads while others share the item used by infected person. At present, the virus is preserved in the lab and can be used as a source of terrorist weapon.

Diagnosis :

It is difficult to detect smallpox virus in the incubation period. The doctor can easily diagnose only after the development of red spots or lesions on the skin. Having even one case of smallpox is an international health problem.

Images, Pics, Photos and Pictures of Smallpox :

Treatment :

Smallpox infection cannot be cured. Medication can be given only to relieve the symptoms like fever, body pain and headache. The person should be encouraged to drink plenty of fluids and he/she should be kept isolated from rest of the family. In most of the cases, smallpox infection will get resolved after 2 weeks but the scars created by red lesions or patches on the skin remain on the body.

Prevention :

Vaccine is available for smallpox but the side effect of such immunization is complicated. Hence vaccination is not recommended for public and can be given only during an outbreak.

Asteatotic Eczema

Asteatotic Eczema Asteatotic eczema is a common skin condition seen on the elderly people. It is described as cracks on the skin surface and it was first identified by Dr. Brocq, French dermatologist. Extreme dryness is believed to cause this eczema and the rate of asteatotic eczema is high during winter season.

Symptoms :

The skin becomes totally dry forming several cracks on the upper surface. The skin becomes totally dry due to loss of natural oil and shows cracks. The skin may lose its elasticity which makes it prone to bacterial infection and other allergens to easily penetrate it. The skin surface resembles a cracked porcelain piece and cracks are widely distributed throughout the body. It can cause itchiness of skin rarely.

Causes :

Asteatotic eczema is caused due to loss of sebum, an oily fluid that occurs naturally in the skin. Owing to loss of oil the skin becomes dry and develops several cracks on its surface. As one grows old, secretion of sebum gets reduced drastically or completely stops resulting in brittle skin.

Old aged people above 65 or 70 years are more prone to develop asteatotic eczema than others. Extreme loss of water from the body (dehydration), living in low humidity, using irritants like soaps or detergents persistently, and taking hot water bath frequently can trigger asteatotic eczema.

Tests :

Mere physical examination of the skin is enough to identify asteatotic eczema.

Images, Pics, Photos and Pictures of Asteatotic Eczema :

Treatment :

• There is no cure for asteatotic eczema that occurs in elderly people.


• You can manage further cracks on the skin by following certain precautions.


• Use only mild soaps without fragrance and avoid using perfumes.


• Avoid taking hot baths for long duration. Use additional humidifiers if you remain in air-conditioned rooms for long.


• Apply moisturizing creams regularly since they are effective in reducing dryness. It is necessary to apply emollients after taking bath.


• You can make use of creams that contain steroids if you cannot manage itching and inflammation of the skin.


• For severe cases your doctor may prescribe triamcinolone cream for dressing the skin. He may also give you oral antibiotics if he suspects bacterial infection on the skin.

Aortic Aneurysm

Aortic Aneurysm Though aneurysm can occur in any blood vessel of the body, it often develops in aorta. Aorta is the largest blood vessel artery in the body that transports oxygenated blood from the heart to all parts of the body. Obviously since it carries volumes of blood each minute, weak spots can develop in the artery. Aortic aneurysm can develop either in thoracic cavity or abdominal cavity. The weakened area of the artery forms a bulge resembling a bag like structure which is filled with blood. In rare cases, this bag ruptures tearing away the arterial wall to empty the blood into the tissue.

Thoracic aortic aneurysm can develop in the upper portion of the chest and abdominal aneurysm can occur in any part of the abdomen. Generally aortic aneurysm of small size does not cause any threat. But if its size is large there are more chances for the aneurysm to rupture and dissect the artery wall. Sometimes plaque like substance gets accumulated in the site of aneurysm which would further weaken the wall of artery. There is chance for the formation of blood clot or thrombosis which can dislodge from the original spot causing complications. Large sized aneurysm can exert pressure to the neighboring organs causing pain.

Causes :

• Exact cause of aortic aneurysm is not known.


• Building up of plaque like particles (atherosclerosis) can harden the arteries and they become stiff and eventually bulge and break.


• Having high blood pressure and increased cholesterol level can cause formation of aortic aneurysm.


• People with connective tissue problems like Marfan syndrome are at risk of developing aortic aneurysm.


• Individuals with leakage in heart valves have high risk of getting thoracic aortic aneurysm. People with prolonged infection like syphilis or salmonella can develop aortic aneurysm.


• Local trauma or injury to the artery during vehicle accident can cause weak spots on the artery which gradually develops into aneurysm.

Symptoms :

Generally small sized aortic aneurysms show no symptoms. Aneurysms can cause symptoms only if the size is large or it has ruptured. In such cases, it can cause chest pain, pain in the shoulder or arms, shortness of breath, repeated cough, hoarseness in voice, difficulty in swallowing, and in severe cases shock or even stroke.

You should seek immediate medical attention if you have severe chest pain, back pain with shortness of breath. If the thoracic aneurysm has ruptured inside it can cause symptoms like trouble in breathing, sudden intense chest pain, reduced blood pressure, loss of consciousness and difficulty in speaking and even paralysis.

Tests :

Small aneurysms often go undetected and sometimes get noticed during other medical tests. Your doctor can diagnose aortic aneurysm by chest X-ray, echocardiogram and CT scan. In case if aneurysm runs in your family, you can screen for thoracic or abdominal aneurysm by doing regular imaging tests and echocardiogram.

Treatment :

It is enough for you to keep a wait full watch if you are diagnosed with small sized aortic aneurysm. Your doctor may do regular screening and echo test to check if the aneurysm has grown bigger in size. No medications are required to be given. For streamlining blood pressure your doctor may prescribe angiotensin inhibitors like Diovan or Olmesartan and Beta blockers like metoprolol. Statins like atorvastatin or lovastatin are effective in controlling cholesterol level in blood.

If the size of aneurysm is large (more than 6 cm) your doctor may consider operating it. It can be done through various procedures. In open heart surgery the surgeon would remove the damaged portion of the aorta and replace it with graft. In endovascular surgery, a synthetic graft is attached to one end of the catheter which is sent through one of the major arteries of your leg into the damaged aorta. Subsequently this graft is placed at the weak spot and tied with suitable pins. This graft would prevent further bulging of aneurysm and rupturing. Depending on the factors like age, health condition and complications of aneurysm, your doctor would decide whether you are suitable for surgery.

Lifestyle Changes :

You should follow the instructions of your doctor with regard to exercise and diet, once you are detected with aortic aneurysm. Do not lift heavy weight or engage in vigorous exercise since it can put additional pressure on the weak spots of aneurysm.

You need to keep blood pressure under control by taking regular medications prescribed by your doctor. If you are smoking or drinking quit these habits. Take cholesterol free diet and include plenty of fresh fruits and vegetables daily. Go for regular screening tests as advised by your doctor.

How To Get Rid Of Bulimia

How To Get Rid Of Bulimia

How To Get Rid Of Bulimia

Every living being eats in order to survive. It is a necessity—a basic fact of life. For humans, eating has evolved to the point that some have made it into an art. Unfortunately, modern times has also brought with it eating disorders that are essentially made worse by the demands of modern society and its perception.

Dying To Stay Thin

Bulimia is one of the eating disorders—together with anorexia—in which the person is so preoccupied about food and their weight that they lose any sense of focus on anything else. It is currently plaguing a lot of modern people today, most of them women. People with bulimia go on repeated food binges, usually in secret and in a small amount of time. The binge is then followed by a behavior to compensate, called “purging”. Purging is when the food is then forcibly thrown out of the body, either through self-induced vomiting, the use of laxatives, or excessive exercises and fasting. A potential complication is that most bulimic people are of normal weight or slightly overweight, so the problem is not readily apparent at first.

Like all other eating disorders, there is no exact cause of bulimia. Most physicians agree, however, that it can be a mental illness, stemming from psychological, biological, and social factors. Oftentimes, bulimia is related to feelings of lack of self control. The destructive cycle of binge-eating and purging is usually the manifestation or attempt at having some sort of control in their lives.

Biological angles are also being considered for possible bulimia causes. Some studies show that people who are connected biologically to a bulimic may develop the illness too, pointing to a possible genetic link. The brain chemical serotonin is also evidenced to have a possible link to bulimia since it has a connection to a person's regular food intake.

Finally, modern society's obsession and point of view that thinner equated to naturally better may heavily influence peer pressure to be “thin”. Such pressure may have a direct cause on bulimic people's obsession to their weight.

Ways To Get Rid of Bulimia

Once you're diagnosed with bulimia, all gloves are off. Don't attempt to get rid of it yourself. Don't think that it is something you can control or will, because it's not; it's actually the exact opposite. Bulimia is a serious psychological problem that needs professional attention the moment it is diagnosed or detected. Getting rid of it requires a combination of treatment that you should strictly adhere to. When diagnosed with bulimia, here are the things you have to do:

Treat any medical condition you may have. Before treating bulimia itself, you have to treat all other health complication arising from it first, such as anemia. It is important that you eliminate all other factors that may complicate your bulimia treatment, to ensure that your condition will not get worse.

See a psychiatrist or a psychotherapist. Since it is largely agreed upon in the medical circle that bulimia is a predominantly psychological issue, psychotherapy will hopefully address it properly. In psychotherapy, you try to treat your condition by talking about it with a mental expert. Psychotherapy can either be counseling, talk therapy, or psychosocial therapy.There are many forms of talk therapy used to treat bulimia. A type of talk therapy called as cognitive behavioral therapy seems to have shown the most promise in treating bulimia. In it, you will identify the unhealthy beliefs and behaviors that prompt you to binge and purge, and then replace it with healthy ones. The main concept behind this treatment is that it's your thoughts and not your environment that determine how you behave. Think of it as mental conditioning to the extreme.On the other hand, there is also something called interpersonal therapy, which focuses on your relationship with the people around you. The goal for this therapy is to improve how you relate with others, like your family and friends. From this relationship point of view, it is hoped that you will then be able to come up with strategies to curb or eliminate your bulimic habits.

Take your prescribed medications. Antidepressants such are sometimes given by doctors to mitigate and control your bulimia. They do are not used to treat bulimia itself, merely lessening the factors that may compound your condition. For example, Prozac is an SSRI (serotonin reuptake inhibitor) that controls your food intake and purging.

Consult a dietitian. A dietitian can help you meet your nutritional needs and help you plan a diet while you're trying to get rid of bulimia. Nutritional therapy will be a very useful tool in helping you get over your condition.

Have yourself be admitted to a hospital. Bulimia can be treated outside the hospital. However, these are for cases that are not that severe. For those that have become life-threatening, you really have to be in a hospital. There are specialized eating disorder clinics that can help with your condition and supervise you. These clinics offer intensive continuous treatment, usually lasting for several weeks. Checking yourself in the hospital will assure you that you will be monitored 24 hours a day.

Aside from the medical steps outlined above, there are several things you can personally do to cope with bulimia.

Identify any situations that may trigger or cause your bulimia and come up with a plan to deal with them. Also have a back-up plan to deal with the emotional repercussions that will inevitably follow after.

Resist the urge to skip meals or go on a diet. While these may be opposites of bingeing, your initial plan is to normalize your eating patterns. Dieting can also trigger binges, worsening the situation instead.

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