Hypothyroidism is an endocrine disorder affecting the thyroid gland where the thyroid fails to produce sufficient quantities of hormone. The symptoms that are seen in the patients are mainly due to this hormone deficiency. Thyroid in females is more commonly seen compared to their male counterparts. The anatomy of the thyroid gland is important to understand. Where is the thyroid? It is located in the lower part of the neck in the midline.

Pathophysiology of Hypothyroidism

Hypothyroidism pathophysiology will help you understand how the disease comes up. The hormones produced by the thyroid gland are T3 and T4. These hormones have an action on almost all parts of the body. The secretion of these hormones is regulated by TSH or thyroid stimulating hormone that is secreted by the pituitary gland. The secretion of thyroid hormone occurs only from this particular gland. The presence of iodine and amino acid tyrosine are a must for the production of thyroid hormones. Hypothyroidism and low levels of the thyroid hormones can occur if there is a deficiency of iodine for thyroid or thyroid stimulating hormone(TSH).

The hypothalamus of the brain secretes TRH thyroid releasing hormone which acts on the pituitary gland and initiates the release of TSH or thyroid stimulating hormone. TSH then acts directly on the thyroid gland to release thyroid hormones T3 and T4. The normal functioning of the thyroid (healthy thyroid) is regulated by negative feedback mechanism where the levels of thyroid hormones increases or decreases under the influence of TSH.

Causes of Hypothyroidism

• The commonest known cause of hypothyroidism is Hashimoto’s thyroiditis which is an autoimmune disorder causing inflammation of the thyroid gland. Thyroiditis can also be a part of a viral infection.
• If the amount of iodine in the diet is less, then the production of the hormones T3 and T4 are affected. The only source of iodine is dietary intake so you must ensure adequate intake. The richest source of iodine is shellfish, eggs, dairy products and iodised salt.
• Hypothyoidism can occur as a complication of radiation therapy given for cancers of the neck as a result of damage to the cells within the thyroid.
• Radioactive iodine treatment is given to patients with hyperthyroidism or an overactive thyroid. The radiation can damage the normal cells and result in low production of thyroid hormones and hypothyroidism.
• Medications that are used to treat certain psychiatric conditions and cancer can affect the normal production of thyroid hormones.
• Thyroid surgery if performed due to some growth or tumour, can lead to reduction in the quantity of the thyroid hormones and hypothyroidism. The part of the thyroid gland that is left out, will continue to function normally.

Signs and Symptoms of Hypothyroidism

The hypothyroid disease symptoms are mainly a result of the reduction in the circulating thyroid hormones. The common symptoms are:

• Constipation
• Dryness of the skin
• Frizzy and dry hair with hairfall
• Easy fatigue, slowness and lethargy
• Changes in the menstrual cycles in females
• Increased sensitivity to cold
• Slow heart rate
• Hypothyroidism depression
• Swelling of the thyroid gland also called as goitre
• Hypothyroidism weight gain or difficulty in losing weight. This is most often the first symptom that a female may notice before the disorder is actually detected.
• Carpal tunnel syndrome due to swelling of the tissues around the wrist.
• Babies who have hypothyroidism may show the following symptoms like extreme sleepiness, constipation, poor muscle growth or floppy muscles, bloating of the stomach and poor feeding habits.

Diagnosis of Hypothyroidism

• The presence of the above symptoms can raise the doubt of hypothyroidism. The diagnosis is confirmed by blood tests called as thyroid function tests. It tests the levels of T3, T4 and TSH.
• Hypothyroidism is diagnosed when the levels of T3 and T4 are low and the TSH is raised. In case the TSH levels are normal, it is called as sub clinical hypothyroidism.
• If there are lumps in the thyroid gland, then diagnostic imaging may be required like thyroid ultrasound, MRI or CT scan. Diagnostic needle biopsy may be needed in some cases.
• Antibodies against TPO (thyroid peroxidase) are an indication that the thyroid nodule is a result of autoimmune thyroiditis.
• During pregnancy, the need of the body increases and so a 50% increase in the thyroid production is considered as normal.

Treatment of Hypothyroidism

For a patient with hypothyroidism, the physician or thyroid specialist will prescribe a synthetic T4 hormone preparation. Depending on the severity of the problem, the dose will be adjusted. This pill will be required to be taken everyday early morning on an empty stomach. Whenever you are put on thyroxine medication, it is very important that you tell your doctor what other medications you are taking as they can interfere with the action of thyroxine.

Regular thyroid blood test need to be carried out to check the response of the medication. The most accurate indicators of the efficacy of the treatment are free T4 and TSH thyroid test. If the medication is continued for a long time without monitoring, the patient may go into hyperthyroidism stage.

Homeopathic remedies for hypothyroidism are also fairly effective in treating the symptoms of the disease.

In pregnant ladies who develop hypothyroidism, the levels of TSH need to be closely monitored. In the first trimester, levothyroxine is used in order to keep the TSH levels below 2.5 mIU/L. The levels should be under 3mIU/L in the second and third trimesters.

Complications like myxedema coma where the thyroid hormones are at a life threatening low and decompensated hypothyroidism are serious and require intensive care with proper breathing care, temperature control and blood pressure monitoring. Hypothermia or very low body temperature can also cause death. Intravenous administration of levothyroxine is needed in such severe cases.

Complications of Hypothyroidism

If hypothyroidism is left untreated, it can lead to the following complications:

• Infertility
• Joint pains
• Obesity
• Heart problems
• Myxedema coma
• Pregnancy related complications can occur when the pregnant mother get the disorders in the early weeks. For the first three months, the baby receives all the hormones from the mother. So in hypothyroid mothers, the baby has lower than normal levels which can lead to problems like poor mental development.

Prevention of Hypothyroidism

In countries where the problem is endemic, iodine rich foods consumption can prevent the onset of hypothyroidism. WHO has encouraged the use of iodine in salt to ensure that maximum population of any given place gets sufficient amounts of iodine in their diet. Using iodised salt is one of the best natural remedies for thyroid. The recommended levels for pregnant and breast feeding mothers of iodine is 250 ug per day. Screening of pregnant ladies for thyroid is also a way of prevention of hypothyroidism complications in the unborn baby.

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Growth hormone is also called as somatotropin. GHD or growth hormone deficiency is a condition caused by the problems arising within the pituitary gland due to which the levels of the growth hormone are insufficient. The anatomical location of the pituitary gland is within the base of the skull. The gland is as small as a pea and it secretes eight different hormones each having its unique action on different parts of the body. The main function of growth hormone is to stimulate cell reproduction and growth. As age advances, the amount of growth hormone secretion decreases and there is a change in the pattern of its secretion also.

The incidence of GHD is roughly one in 7000 births. The condition affects both adults and children alike. In children the commonest manifestation of growth hormone deficiency is short height. In adults the hormone is responsible mainly for maintenance of the body structure and regulating the metabolism. So the manifestations of somatotropin deficiency are rare in adults.

Causes of Growth Hormone Deficiency

• Growth hormone deficiency is caused by the deficiency or complete absence of the growth hormone secretion from the pituitary gland. The condition can be congenital or acquired. Congenital deficiency of the growth hormone is due to abnormalities within the pituitary gland itself or as a part of other syndromes.
• Acquired growth hormone deficiency or AGHD can occur as a result of infections, serious head injuries, radiation treatments etc.
• Children who are born with anomalies like cleft lip and cleft palate also are more likely to have GHD as their pituitary glands are poorly developed.
• If GHD is not present since birth, then it can be because of tumours in the brain that are located near the base of the brain or the hypothalamus.

Symptoms of Growth Hormone Deficiency

1. Children who have growth hormone deficiency will be shorter than their peers and have more rounded faces with normal body proportions. Hormones in children need to be present in the correct proportions to ensure adequate growth. They may also have baby fat deposits around the abdomen. The intelligence levels are normal in these children.
2. If the deficiency of growth hormone occurs later in life as a result of a brain tumour or head injury, then the most important symptom will be delayed sexual development and due to this the onset of puberty and the physical changes associated with it are also delayed.
3. In the growing years, growth hormone deficiency can lead to abnormalities like poor breast development in young girls and absence of voice change in young boys along with a short stature and stunted growth.
4. Low amounts of growth hormone can lead to weakness and lack of stamina. There is increased sensitivity to hot and cold in such children.
5. In acquired growth hormone deficiency, the bones are weak and so there is a risk of repeated fractures. In older individuals, this is seen more prominently along with easy tiredness and poor stamina.
6. Adults who have AGHD (adult ghd), are more prone to getting diabetes and cardiac diseases. They also have high levels of cholesterol which is not due to a faulty diet but more because of the disturbance in the metabolism of the body as a result of growth hormone deficiency.
7. Psychological symptoms like these may also be seen in some adults:
   • Depression
   • Lack of concentration
   • Poor memory
   • Emotional disturbances
   • Mood swings

Diagnosis of Growth Hormone Deficiency

The physical attributes like the height and weight of the child will raise the suspicion of a probable growth hormone deficiency diagnosis. The growth will be stunted and the puberty will be delayed with undeveloped secondary sexual characters like development of breast in girls and hair growth on the face in young boys. The next step is to confirm the diagnosis by means of different tests. These tests can determine whether the anomaly is present since birth or acquired in the later stages of life.

1. Blood test for growth hormone deficiency are the most useful tests to detect the levels of growth hormone. The hormone shows a diurnal variation but the levels of GH if found lower than normal indicate that there is a growth problem.
2. X-rays of long bones can be used to detect the extent of fusion at the ends of long bones and also the presence of growth plates. These X-rays give a clear picture whether the bone growth is normal or not.
3. Kidney and thyroid function tests are used to assess the normal functioning of the body and production of hormones.
4. MRI of the brain is mainly used in cases of GHD in adults which occurs secondary to a pituitary tumor or a head injury. They give a detailed picture of the brain and the structures inside it.

Treatment of Growth Hormone Deficiency

In the early days, gh treatment was carried out by giving the patient natural growth hormone derived from cadavers (gh therapy). Currently the most popular mode of treatment is use of synthetic hormones that are prepared by recombinant DNA technique. It is also referred to as recombinant growth hormone. The main aim of the treatment is to stimulate the pituitary gland which will help to increase energy and restore the normal functions. The synthetic hormone is injected into the fatty tissues of the body like the arms, hips and buttocks. The side effects of hormone therapy are rare and they include redness of injection site, pain in the hips, curving of the spine and headaches. Long continued treatment can lead to diabetes in some patients especially those with a positive family history. The side effects of growth hormone therapy are:

In children, if the growth is deficient but the hormone levels are found to be normal, no treatment is required but if the levels are low then life time growth hormone replacement or replacement therapy has to be done. These growth shots have to be given under strict medical guidance at regular intervals.

In adults, the treatment has multiple benefits including an enhanced energy and strength, increase in muscle mass and higher bone density.

For tumors of the brain and pititutary gland, radiation therapy may be required especially if the complete tumour is not removed by surgical means.

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Marfan syndrome is a genetic disorder that affects the connective tissue of the body. The connective tissue is found in the bones, cartilages, tendons, heart valves, blood vessels and other vital parts. It has an autosomal dominant pattern of inheritance. The condition is inherited in most of the cases from the parent. In only 25% of the cases, the syndrome may occur as a result of some gene mutation. The main cause is the mutation in the gene that is responsible for the making of fibrillin. This is turn leads to abnormal connective tissue in the body. The disorder has a similar rate of occurrence in males and in females. The name Marfan is coined after Antoine Marfan, a French pediatrician who was the first one to identify this condition.

Causes of Marfan Syndrome

Now we shall see what causes marfan syndrome. The main aetilogy of Marfan’s disease is the alteration in the gene that is responsible for the production of fibrillin. Fibrillin is a very essential component of the connective tissue for body foundation and is responsible for normal strength and elasticity

If a parent has the disease, then the child has a 50% chance of inheriting this genetic connective tissue disorder. The gene mutation that causes the syndrome is the same in each case. However different mutations are seen in different families due to which the intensity and presentation of the symptoms is different. This phenomenon of different expressions of the same gene in different people is called as variable expression. The exact reason behind this is not clearly understood yet.

Signs and Symptoms of Marfan Syndrome

The symptoms of marfan syndrome are expressed differently in each individual. The body systems that are maximally affected by the disorder are:

1. Skeletal System: The affections of the bone and connective tissue like protrusion of breastbone, spinal curvature(scoliosis) and flat foot are commonly seen. The skeletal system is greatly affected by this disorder and the people with marfan syndrome have typical physical traits.
   • Tall and slender built
   • Long bones
   • Arms, legs, fingers and toes are disproportionally long
   • Joints are loose and hyper mobile
   • The face is long and narrow
   • The roof of the mouth is high making the teeth over crowded.
   • Abnormal curvature of the spine.
2. Eyes: In marfan syndrome, the ciliary body that suspends the lens of the eye is weakened because of alteration in its connective tissue. This leads to dislocation of the lens in one or both the eyes. The degree of dislocation can be minimal to severe. Another serious complication is retinal detachment. Increase in the pressure within the eye (glaucoma) and cataract are also seen in some cases.
3. Cardiovascular System: Marfan syndrome cardiac complications are caused mainly because of weakening of the muscles within the aorta of the body. The aorta is the largest blood vessel that carries blood from the heart to the various organs. The aorta gets dilated and it can even lead to dissection of aorta or rupture of aorta and sudden death. The muscles within the valves of the heart are also weakened thereby leading to incompetence and cardiac murmurs. If the leakage through the valve is a big one, then it will lead to breathlessness, fatigue and palpitations.
4. Nervous System: The membrane that surrounds the brain and the spinal cord weakens with time and the bone may get worn off leading to radiating pain, numbness and weakness in the legs. This condition is called as spinal ectasia.
5. Skin: Weakness of the connective tissue within the skin, make these patients prone to getting stretch marks all over the body. Over the abdomen, the skin may stretch excessively and the patient may land up with a hernia (where the intestines may protrude through a weak spot in the abdominal wall.)
6. Lungs: The connective tissue affections within the lungs of these patients is not a very major one. If the air sacs expand abnormally, they can lead to lung collapse, snoring or sleep apnea.

Diagnosis of Marfan’s Syndrome

The diagnosis of marfan syndrome cannot be done on the basis of genetic testing alone. The doctor will need to take a detailed history of the patient. The physical appearance needs to be assessed for the signs of marfan syndrome. Eyes, cardiovascular system and the skin needs to be checked for positive signs and symptoms.

For changes in the heart like aortic dilatation and cardiac murmurs, tests like ECG and Echocardiography will be useful. CT Scan and MRI is carried out when spinal involvement is suspected (spinal ectasia).

Eye examination with the help of a slit lamp will be done to check for retinal detachment and other pathologies of the eye.

Treatment of Marfan Syndrome

The treatment for marfan syndrome will depend largely on the symptoms that the patient presents with. After the initial treatment, there should be regular follow ups with the ophthalmologist and cardiologist to keep a check on the symptoms. The more severe cases may require surgery.

(a) Medications:

Medications are not used for treating marfan’s syndrome. Symptomatic treatment is the main aim here. The doctor may use beta blockers to bring down the heart rate and the pressure in the blood vessels. This helps to avoid dilatation of the aorta. If the patient is unable to take beta blockers due to the side effects then calcium channel blockers may be used. Managing the blood pressure and keeping it low helps patients with Marfan syndrome.

(b) Surgery:

• If the patient has cardiovascular symptoms then there are chances of complications like dissection of aorta. In such cases, surgery may be required where the weakened part of the aorta is replaced with a man made graft to protect the weakened area of the aorta.
• If the valves of the heart are weak, there may be dilatation of the left ventricle and it may lead to heart failure. The affected valve may be repaired or replaced in such cases. All such cases need continuous and life time follow up to keep a check on the complications of the disease.

(c) Pregnancy:

During pregnancy, genetic counseling is required to ensure the disease is not passed on to the foetus. If the pregnant lady is diagnosed with the disease, the increased blood volume during pregnancy can put the lady at a risk for cardiac complications as the aorta will enlarge. If there is regurgitation of the valves and a murumur is found, it will be treated as a high risk pregnancy and bed rest will be advised.

The marfan syndrome prognosis depends on the stage at which the diagnosis was done. On account of the recent advances and medical follow ups the life expectancy of patients with the disease has gone up.

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Huntington’s disease was earlier called as Huntington’s chorea. It is an inherited disorder affecting the brain cells. Huntington’s disease effects on the brain is permanent damage of the brain cells. The disease begins as lack of muscle coordination and poor mental abilities. But as the disease advances, jerky movements and unsteady gait become more pronounced. The disease begins mainly around middle age that is between 30 to 50 years of age.

Causes of Huntington’s Disease

Genes are present within the chromosomes in each living individual. These genes carry the vital information that is required for normal functioning of the body. In this particular disorder, the mutated gene is present on the chromosome 4 which normally produces a protein called huntingtin. This gene no longer produces the protein as a result of which the brain cells get permanently damaged.

Huntington disease is a genetic disorder that is inherited in the autosomal dominant gene mutation. This means that if one parent has the mutated gene, there is 50% chance of the child to inherit the disease. The inheritance of huntington’s disease is genetic and it does not skip generations. So if a child does not inherit a faulty gene, he will not develop Huntington’s disease and will also not pass it on to his next generations. If the child does inherit a mutated gene from either of his parents, he will develop the disease when he reaches middle age.

Symptoms of Huntington’s Disease

Huntington’s disease is a hereditary disorder and it cannot be contracted from another infected person. It is progressive in nature and there is nothing that can stop the progression of symptoms. The initial symptoms will show up around the age of 30. However it can affect anyone from young to advanced age. The symptoms tend to vary from person to person. Over the years, the symptoms worsen and the brain cells get permanently damaged. This affects the movements and gait and also leads to emotional and mental symptoms. The earliest symptoms of a disease are the presence of abnormal movements. The stages of the disease are as follows:

(a) Early Stage:

The symptoms in the early stage are mild and at times overlooked. Initially patients may notice that they need help for small tasks and gradually the more pronounced symptoms come up:

• Balance and coordination are affected which make the patient clumsy.
• Slowness in all movements
• Fidgetiness
• Irritability, depression and mood swings
• Fidgety movements that are out of the person’s control
• Difficulty in thinking, poor focus and concentration
• Signs of lack of emotion
• Short term memory lapses

In the initial stages of the disease, the person may not be aware and so all the symptoms may be taken as a change in the behaviour and attitude by friends and family members. Unexpected temper outbursts may occur in a person who is otherwise very calm and composed. These may be shocking and at the same time very distressing. If any such abnormal behaviour is seen, you must consult your general practitioner for further investigation.

(b) Second Stage:

With the progression of the disease, the uncontrollable movements become more pronounced. There is jerking of various parts of the body and fidgety movements of the extremities. The person becomes clumsy and drops things from the hands often. With passing time, the jerky movements become more intense.

Swallowing becomes difficult as the muscles of the mouth and throat get affected. There is a risk of choking and the person finds it more difficult to swallow fluids as compared to food. The person may even spill the food from the mouth.

Emotional changes and symptoms of huntington’s disease like anger, depression and lack of emotions become more and more evident.

(c) Late Stage:

In the last stage, the jerky movements intensify and then gradually slow down as the muscles get rigid.

In the final stage, most of the patients need to have full time help or nursing aid in order to assist them with day to day activities. There is loss of cognitive power and the memory also gets affected.

Weight loss occurs in most of the cases which also weakens the immune system and makes the patient more prone to getting infections. Medical symptoms are added to those of the disease.

Most patients with Huntington’s disease die of complications like heart problems, pneumonia, chocking and infections rather than the disease itself.

Diagnosis Of Huntington’s Disease

The first step of the diagnosis is complete history taking. The doctor will examine the patients history in sequence of appearance of the symptoms, medication history etc. The presence of mental and emotional changes is examined by questioning the family members about the same. Imaging techniques may be used to rule out other disorders.

(a) Genetic Testing: Genetic testing for huntington’s disease is carried out for those who have a family history of the disease. In many countries the minimum age for genetic testing is 18 years. If a faulty gene is detected, the onset of disease can be predicted.

(b) Testing in Pregnancy: Genetic testing can be carried out during the 11th week of pregnancy. Genetic testing is a must if there is a family history of any kind of genetic disorder.

In case of in vitro fertilization, the gene of the mother has to be tested before going for the implantation process. The fertilized egg can be implanted only if the mother is found healthy.

(c) Imaging Techniques: CT scan and MRI scan done in the early stages of the disease show atrophy of the caudate nuclei in the brain. Changes of cerebral atrophy are seen in the later stage of huntington’s disease. These imaging techniques mainly rule out other medical conditions and are used for diagnostic study of such cases.

Treatment of Huntington’s Disease

For patients looking for Huntington’s disease cure, the news is grim. This disease is incurable and the main aim of the treatment is only to slow down the progression of the symptoms and help the patient to function independently despite the disabilities caused by the disease.

1. Huntington’s disease medications like tetrabenazine are used to control the involuntary movements. However there are side effects like drowsiness, nausea and restlessness associated with these drugs which need to be monitored carefully.
2. Speech and language therapy is useful for patients with difficult speech or swallowing problems.
3. Proper diet and nutritional supplements are helpful in dealing with the weight loss associated with Huntington’s disease.
4. Physical and occupational therapy are useful as the therapist teaches you methods to prevent falls and take control of the movements. Cognitive power and memory can also be improved with the help of occupational therapy.
5. Research is going on in the field of gene therapy where scientists are trying to make man made molecules that can prevent human cells from making abnormal proteins and thereby blocking the progression of Huntington’s disease.

In each stage of the disease, the role of the care taker is very important as the patient looses the ability to function independently. The caregiver could be a nurse or a family member. It is advisable to be a part of some social groups that are made for patients with such diseases, so that taking care of the patient gets easier.

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Hemophilia is an inherited genetic blood clotting disorder where the ability of the body to form blood clots is deranged. This leads to excessive bleeding as the blood does not clot effectively.

What Causes Blood Clots?

In normal conditions, after an injury, platelets (that are formed within the bone marrow) aggregate at the puncture site and form a plug. Along with this there is another action is the body and that is by clotting proteins or clotting factors. There are 13 clotting factors in the body and even if one of them is absent, then the clotting mechanism is disturbed. This bleeding disorder could be manifested in the form of mild, moderate or severe clotting problems.

Types of Hemophilia

There are three identified types of hemophilia depending on the clotting factor affected.

Hemophilia A: Factor viii hemophilia is the commonest type of hemophilia. It occurs due to the deficiency of factor VIII.

Hemophilia B: Hemophilia b is caused by the deficiency of factor IX. The other name for it is christmas disease.

Hemophilia C: This is the mildest form of hemophilia and it occurs due to the deficiency of factor XI. This is a rare disease and the patient does not have spontaneous bleeding. The diagnosis becomes evident only after an injury, post surgery or trauma.

What Causes Hemophilia?

When an injury takes place, the earliest reaction is formation of a platelet plug (earliest signs of blood clot). Along with this, clotting factors are activated which lead to stoppage of the bleeding by forming a stronger clot. In hemophilia causes, the clotting factors VIII, IX and XI are absent and so the cascade is broken and the bleeding doesn’t stop like it should. This is primarily because of a defect in the gene that is responsible for formation of the clotting factors. This gene is located on the X- chromosome. Hemophilia is an X linked recessive genetic disorder and it runs in families.

Males have one X and one Y chromosome. So if a male inherits the defective X chromosome from his mother, he can get hemophilia. In females, if one X chromosome has the defective gene, the other normal X chromosome will prevent the disease from actively coming up. Such a female will become a “carrier” of the disease and will pass on the disease to her children.

A male with a faulty gene on his X chromosome can pass on the disease to his daughter but not to his son. This is because the daughter inherits an X chromosome. A female must have defective genes on both her X chromosomes to get hemophilia which is rare.

This is the reason why hemophilia A and B are more common in males than in females. Hemophilia C on the other hand is an autosomal inherited genetic disease that is not linked to the sex chromosomes (X and Y) and so it is seen in both males and females equally.

Symptoms of Hemophilia

The inability of the body to form clots can lead to spontaneous bleeding as well as bleeding within the internal organs of the body. The extent of the symptoms will depend on the deficiency of factors. If the deficiency is very severe, then there can be bleeding without any cause. The hemophilia symptoms are:

• Bleeding in the urine
• Bleeding in the stool
• Bruising on the skin
• Large bruises on the body without any history of injury
• Bleeding gums
• Nosebleeds
• Bleeding within the joints can lead to joint damage and also disfigurement.
• Bleeding in muscles and soft tissues of the body.
• Irritability in small children
• Severe bleeding after a dental procedure, accident or surgery.
• Mild bleeding symptoms in females due to the presence of one normal X chromosome.

Complications of hemophilia can be because of the disease or as a result of its treatment. They are:

• Joint damage due to haemarthrosis.
• Deep muscle bleeding
• Infections contracted as a result of frequent blood transfusions that are a part of the treatment of hemophilia
• Reactions to clotting factor treatment that is administered.
• Intracranial hemorrhage
• Hemophilic arthropathy

Diagnosis of Hemophilia

Hemophilia can be diagnosed during pregnancy and after the birth of the child. This is most essential when there is a positive family history of the disease. Mild forms of hemophilia come to light only after a surgery or dental procedure when the bleeding fails to stop.

1. Before conceiving, couples who are aware of the presence of hemophilia, should opt for genetic counseling and testing. This helps to determine the probability of passing on the disease to the child. The test is usually a blood test and it is examined for signs of abnormal genes that cause hemophilia.
2. If a lady with hemophilia gets pregnant, then extensive testing needs to be done during the pregnancy. These tests are CVS- chorionic villus sampling which is done between 11 to 14 weeks of pregnancy by testing a small sample of the placenta. Another test which is routinely done in such cases is amniocentesis where in a sample of the amniotic fluid is taken and tested. This test is done around 15 weeks of pregnancy. A needle in inserted under ultrasound guidance and the fluid is collected and analyzed. During pregnancy, these procedures are associated with a risk of miscarriage and preterm labor. So they must be discussed in detail with your doctor.
3. When there is a positive family history, the umbilical blood of the baby is collected immediately after birth and sent for testing. This can help determine whether the child has hemophilia A or B.
4. Blood tests that are used to assess bleeding disorders are
   • Bleeding time
   • Platelet count
   • Clotting time
   • Prothrombin time (PT)
   • Activated platelet Prothrombin Time(APTT)

Treatment of Hemophilia

Hemophilia treatment with clotting factors is mainly indicated in severe cases. Mild cases of hemophilia need no treatment.

Hemophilia A is treated with the help of a prescription hormone called desmopressin which is injected directly into the vein. This medicine has an action on the factors that cause blood clotting.

Hemophilia B can be treated by infusion with donor clotting factors. If synthetic clotting factors are used, they are called as recombinant clotting factors.

Hemophilia C is treated with the help of a plasma infusion that helps to stop bleeding.

If there is a history of bleeding within the joint causing joint damage and deformity, the physical therapy and rehabilitation will be of much benefit. Pain medications and steroids may also be given depending on the symptoms of the patient.

Contraindications in Hemophilia Patients

• Anticoagulant medications like warfarin and heparin are strictly contraindicated in people with hemophilia as they can increase the clotting difficulties and lead to more bleeding. Drugs that have a blood thinning effect like aspirin, ibuprofen etc are also contraindicated in hemophilic patients.
• Sports with high intensity or having a likelihood of injury like skateboarding, boxing, wrestling etc should be avoided strictly.

Prevention of Hemophilia

Hemophilia is a genetic disorder and is passed on from the parent to the child. There is no way to check whether the baby will get the disease or not. However pre natal genetic counseling is a must so that the parents are aware of the risk ratio and be prepared before they decide to go ahead with the pregnancy. If a lady is a carrier of the disease, testing should be done for the partner before they get married so that the disease can be avoided in the next generation.

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Cystic fibrosis is a genetic disorder. It affects the cells in the lungs that are responsible for the formation of the mucous, sweat and digestive fluids. In normal conditions, the secretions are thin and the main function is to lubricate the organs for normal functioning. In cystic fibrosis, these secretions become excessive and thick (glue like). This causes blockage of the tubules within the lungs. The mucus that collects within the lungs leads to growth of germs and infection within the lungs. This infection leads to cyst formation within the lungs and heals by fibrosis of lungs and scar formation. This exact pathology gave the name to the disease cystic fibrosis (which means cysts and fibrosis in the affected tissues)

Causes of Cystic Fibrosis

Cystic fibrosis causes are mainly genetic in nature. The disorder is caused by genetic mutation in the cftr gene (cystic fibrosis transmembrane conductance regulator). This gene is mainly responsible for regulating the levels of salt and water within the cells and in the intercellular spaces. CFTR works in regulating the digestive juices, mucus and the sweat production. Dysfunction of this gene leads to a disturbance in this function and results in the collection of a sticky substance within the cells which is nothing but thickened up cell secretions. These then become a source of infection in the affected organ.

The pattern of inheritance of cystic fibrosis is autosomal recessive in nature. Both the parents need to have a copy of the mutated gene for it to pass on to the child. If both the parents are carriers then there is a 25% (one in four) chance of the baby getting cystic fibrosis. If only a single copy of the mutated gene is inherited then the child becomes a carrier and does not have the active disease. This child however will pass on the gene to his future generations.

Pathophysiology of Cystic Fibrosis

Cystic fibrosis occurs as a result of mutation in the gene located on the chromosome 7. This particular gene encodes a protein called cftr. When this gene is mutated, the chloride channels within the cells are affected due to which the secretions which are normally thin, become thick and viscous. These thick and sticky secretions collect in the lungs airways and lead to repeated infections. These infections heal by scarring and cause fibrosis of the lungs. Scaring over a large area of the lung tissue leads to breathing troubles.

Defective chloride channels in cystic fibrosis lead to sweat that is extremely salty and leaves stains on the clothes.

When the secretions of the pancreas become thick, it blocks the pancreatic duct. As a result the digestive enzymes do not reach the intestines. This leads to a poor absorption of fat and proteins. The patient suffers from mal absorption and vitamin deficiencies.

Symptoms of Cystic Fibrosis

The symptoms of cystic fibrosis vary from person to person and the intensity depends on the stage at which the disease is. The disease makes its appearance in childhood and infancy. The most common signs and symptoms are:

1. 1. Poor growth and weight gain inspite of eating well. This is mainly as a result of malabsorption in the intestines which occurs due to lack of pancreatic enzymes.
   2. The sweat is excessively salty
   3. Lung infections that occur frequently.
   4. Intestinal obstruction in older adults due to blockage of the intestines.
   5. Thickened secretions in the liver can lead to blockage of the bile duct. Long term liver damage can lead to liver damage and cirrhosis.
   6. In children there is poor weight gain
   7. Symptoms like bowel obstruction and meconium ileus in new born babies.
   8. Vitamin K malabsorption. Normally vitamin K is absorbed from the breast milk and later on from the solid food. In cystic fibrosis, this absorption is poor and so the child has very low stores of vitamin K. Low levels of vitamin K affect the clotting factors in the blood and lead to coagulation disorders. This is a rare condition and it gets diagnosed when the child has unexplained bruising or bleeding that will not stop along with the above mentioned systemic symptoms.
   9. Scarring and damage to the pancreas as a result of cystic fibrosis can affect the secretion of insulin from the b cells of pancreas. This increases the risk of diabetes in the patients.
   10. It has been seen that majority of the patients with cystic fibrosis have infertility. This affects both males and females. In males the cause of the infertility is the congenital absence of the vas deference and in females it is the excessive thickening of the cervical mucus or even malnutrition.
   11. The imbalance in the minerals within the cells may also cause low blood pressure and fatigue in some patients.

Diagnosis of Cystic Fibrosis

(a) Newborn Testing: If there is a history of cystic fibrosis in the parents, the child must be subjected to genetic testing which can confirm the presence of a faulty cftr gene. Blood test may be used to check the functioning of the pancreas.

(b) Sweat Test: Sweat tests are mainly carried out to check the salt content in the sweat of the person suspected to have cystic fibrosis. The doctor will artificially produce sweat on a small patch of the skin on the arms or the legs. The sweat is then collected using a pad and analyzed for the salt content. High salt content indicates cystic fibrosis.

(c) Other Investigations:

1. 1. • Chest X-ray
      • X-ray of paranasal sinuses
      • Lung function tests
      • Sputum examination and culture
      • Prenatal screening of the foetus for cystic fibrosis via amniocentesis

(d) Carrier Testing: If an individual has one normal gene and one faulty gene, then he becomes a carrier of the disease without any active symptoms. There is however a risk of passing on the disease to the future generation. When planning a pregnancy a genetic counselor can help you to check for the risk of transmission of the disease to the fetus by means of a blood or saliva test.

Treatment of Cystic Fibrosis

There is no permanent medical treatment for cystic fibrosis but the main goals of the treatment are to reduce the frequency of lung infections and make the secretions thin so that they do not block the ducts and passages in the various organs. The treatment of cystic fibrosis is multifaceted and so a physician, dietician and physical therapist need to work hand in hand.

1. 1. CPT which is also called chest clapping or percussion is performed to loosen the mucous clogging the ducts so that the patient can cough it up. This can be done by using a mechanical precursor or an inflatable therapy vest.
   2. Aerobic exercise and physiotherapy for cystic fibrosis involves breathing hard so that the mucous logged up in the chest can be coughed up.
   3. The secretions of the body become very salty so a high salt diet or supplements may be needed to balance the salt levels in the body.
   4. Medications for cf like anti inflammatory drugs, broncho dilators and mucous thinning medicines are helpful. Antibiotics may be needed to control infections in the lungs.
   5. Adequate dietary supplements and balanced diet are useful in taking care of the problems caused by malabsorption in intestines of cystic fibrosis patient.
   6. In severe cases of cystic fibrosis, oxygen therapy may be needed using a mask or prongs.
   7. Lung transplant may be required if the fibrosis is very wide spread.

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Cerebral palsy affects the area of the brain that controls the movements and coordination of muscles. If those parts of the brain are not developed right from the beginning then the child will have congenital cerebral palsy. When the onset of the cerebral palsy is after birth, it is called as acquired cerebral palsy.

This disorder affects different people in different ways. In some people it may be just a mild muscle weakness where as in others it may be so severe that they may not be able to walk. It can be associated with normal intelligence or intellectual problems depending on the severity of the problem.

What Causes Cerebral Palsy?

The exact cause of cerebral palsy is not known but it is known to occur due to a disruption in the brain or its growth. Some of the conditions that can affect the brain growth are:

• Brain injury or trauma
• Genetic conditions
• Convulsions and seizures in the first month of life or immediately after birth.
• Decreased blood flow to some organs of the body
• Bleeding within the brain due to a birth trauma or bleeding that occurs immediately after birth.
• Intracranial haemorrhage in the foetus if there occurs a stroke. Stroke can happen in a foetus during its life within the uterus mainly as a result of some bleeding disorder in the baby. A blood clot within the placenta can block the blood flow and lead to a stroke. If the mother has pre ecclampsia and other complications of high blood pressure which is not well treated, then it can lead to such complication in the baby.

Risk Factors For Cerebral Palsy

(a) During pregnancy: During your pregnancy, the diseases you contract have a direct effect on the health of the foetus. These risk factors explain what causes cerebral palsy in infants.

• Multiple pregnancies like twins or triplets
• Rh incompatibility
• Having health issues like thyroid problems or seizures and taking medications for the same
• Consuming shell fish that could contain toxic substances like mercury

(b) Infections in the pregnant mother:

• Infection with rubella (german measles)
• Chicken pox during pregnancy
• Herpes infections which affects the nerves and the developing nervous system. It gets passed on from the mother to the baby.
• Sexually transmitted disease like syphilis
• Zika virus infection which is caused by mosquitoes
• Toxoplasmosis
• Cytomegalovirus infections

(c) Infections in babies:

• Bacterial meningitis that can lead to swelling in the tissues of the brain and spinal cord and cause neurological problems in babies.
• Severe jaundice
• Viral encephalitis

(d) Birth Conditions:

• Breech presentation
• Low birth weight babies
• Premature babies
• Obstructed labour and complicated deliveries

Cerebral Palsy Symptoms

1. 1. Cerebral palsy leads to poor muscular tone and strength as a result of which the contraction and relaxation of the muscles is abnormal. This is the main cause of the movement problems that are seen in cerebral palsy.
   2. Depending on the degree of affection of the muscles, they can be floppy or extremely stiff making movement difficult (in spastic cerebral palsy)
   3. Poor balance and sense of stability.
   4. The muscle groups that are very stiff, contract abnormally. This is called as spastic paralysis.
   5. The child may lie down in awkward positions and crawl as he is unable to walk.
   6. One side of the body may be used more than the other.
   7. The range of movements is also restricted.
   8. Delay in achieving the milestones like crawling, sitting and walking is one of the signs of cerebral palsy in a baby.
   9. Hearing problems
   10. Poor eyesight
   11. Poor control over the muscles of the face leading to drooling of saliva and drop of the corner of the mouth
   12. Speech may be slurred if the muscles of the face are affected. Children will be slow in learning to speak and there will be dysarthria.
   13. Convulsions
   14. Urinary and bowel control may be affected.
   15. Recurrent urinary tract infections are common in people with cp disease because the pelvic floor muscles have poor tonicity thereby retaining large amounts of urine. This predisposes them to lower urinary tract infections.

Most of the symptoms make their appearance within the first three years of life. Babies who are born with cerebral palsy have birth defects like abnormal curvature of the spine, a small head or small jawbone. These signs along with floppy or spastic muscle help to diagnose cerebral palsy. In most cases, the diagnosis happens around 9 months of age when the child is slow in achieving the milestones.

Diagnosis of Cerebral Palsy

The diagnosis is done mainly on the basis of symptoms and physical examination. Abnormal and involuntary movements occurring in babies less than four months of age are an important symptom to doubt a case of cerebral palsy. The muscle reflexes need to be examined carefully and the muscle groups that are most affected need to be identified.

Once the diagnosis is established, further work up is done by means of CT scan or MRI. Magnetic resonance imaging (MRI) is preferred over CT scan as it can give more detailed results about other existing conditions like hydrocephalous, haematomas and malformations that may be congenital.

To rule out other disorders blood tests, ultrasound of the head and MRI may be required.

Cerebral Palsy Treatment

1. 1. 1. There is no known treatment for cerebral palsy but the main aim is to reduce the intensity of the symptoms and make the child more independent. The severity and complexity of the disease will vary in different persons with the same diagnosis.
      2. A doctor, speech therapist and an educational therapist work together in each case of cerebral palsy to help the child recover completely.
      3. The family needs proper guidance and counselling to cope with the needs of a special child
      4. Occupational therapy is mainly carried out to help the child carry out day to day activities like wearing his clothes and shoes, getting dressed and organizing his things. Fine motor skills are taught to the child to help him hold a pen or do tasks that need accuracy.
      5. Medications are given to control the abnormal muscle spasticity or flaccidity.
      6. If the child has convulsions, anti epileptic medications need to be given.
      7. Surgery may be needed to relieve the pain caused by tight muscles. If there are anatomical abnormalities, they need to be corrected.
      8. Braces and walking supports are given to children who are unable to walk without support

Cerebral palsy is a progressive disorder. The damage in the brain does not get worse but the conditions of the muscles and the symptoms get worse with time and can go to the stage of complete disability. Most children have normal intellectual growth. The level of gross motor ability in the individual decides the life expectancy.

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Dysarthria is a motor disorder of the speech. This neurological deficit occurs as a result of injury to the motor component in the speech system. The muscles of the tongue, lips, mouth, vocal cord and diaphragm are required to work in coordination for normal speech to form. In dysarthria this muscle coordination is lost and so the speech is abnormal and difficult to understand. The severity of the problem will depend on the extent of damage in the brain. It is not a very common disorder and is known to be affected with certain types of neurological disorders.

Causes of Dysarthria

The following medical conditions and disorders affect the area of the brain that controls the motor functions like contraction and coordination of skeletal muscles. Depending on the part of the brain affected, there will be other symptoms along with dysarthria.

(a) Degenerative Disorders

• Parkinsonism
• Multiple sclerosis
• Huntingtons disease
• Amyotopic lateral sclerosis

(b) Toxic and Metabolic Causes

• Wilsons disease
• Hypoxic encephalopathy
• Central pontine myelinolysis

(c) Traumatic Brain Injury

(d) Thrombosis or Embolism in the brain which leads to a medical condition called stroke

(e) Brain Tumor

(f) Cerebral Palsy

(g) Gullian Barre Syndrome

(h) Hypothermia

Symptoms of Dysarthria

• • In dysarthria, the muscles of the tongue, lips and the vocal cords fail to work in proper coordination and so it will first affect the quality of the voice. The voice generally becomes hoarse and heavy like the one associated with a cold.
  • Chewing and swallowing is also difficult
  • Saliva does not move around in the mouth properly and the muscles of the tongue fail to control the flow of saliva leading to drooling.
  • The speech is affected and there can be many variations in the speech making it difficult to understand. The speech may become high or low pitched compared to normal, flat, mumbled, slow, fast, slurred, soft or strained.
  • The words may come out but articulation is affected so they will not make any sense

Diagnosis of Dysarthria

Difficult or slurring of speech is normally examined by a speech language therapist. They look at the movement of the muscles of the mouth and determine the severity of the problem. To rule out various causes, the therapist will perform simple tests like-

• Making different types of sounds
• Sticking out the tongue
• Blowing a candle or whistle
• Singing
• Spitting the saliva in the mouth
• Counting numbers etc

Treatment of Dysarthria

Irrespective of the cause of dysarthria, the most beneficial treatment is speech and language therapy. A speech therapist will help you out with the following things:

• Teach you how to talk clearly by taking appropriate pauses and catching your breath so that the words are slow but audible
• Exercises to help strengthen the muscles of your face and jaw
• Voice modulation techniques to make your voice louder
• Using devices like amplifiers to make your voice audible

The following advice or tips can be of much use to a patient with dysarthria. They can help him communicate better and go about his day to day activities.

• Always carry a small book and pen or a smartphone which can become an alternate way of communicating when the other person cannot understand what you are saying.
• Speak slowly and have the full attention of the other person
• Talk face to face. It is easier to see your expressions and lip movements and so communicating becomes more effective.
• When trying to communicate something important, turn down the volume of other devices around you. If you are outside on a noisy road, try using the telephone booth where your voice can be heard well.
• Use short phrases and words
• Take the help of gestures and hand movements.

Multiple Sclerosis and Dysarthria

What causes multiple sclerosis?

Multiple sclerosis (ms) is demyelinating neurological disorder where the myelin sheath covering the nerve cells in the brain and the spinal cord is damaged. As a result the signals from the brain are not communicated effectively to the various parts of the body. This results in loss of bladder and bowel control, weakness of muscles in various parts of the body, paralysis, numbness. It affects the optic nerve and leads to visual disturbances. The disorder makes it appearance between 20 to 40 years of age.

Symptoms of Multiple Sclerosis

When the disorder is in the early stage, the symptoms are vague and not diagnostic but as multiple sclerosis progresses, the diagnosis gets clearer.

1. Early signs of ms include clumsiness and difficulty in coordinating movements with tingling and numbness. No two people with multiple sclerosis will have the same symptoms.
2. Visual problems are an early symptom of ms. The optic nerve is affected and so the vision tends to become blurred or there may be a gray spot in the vision. Eye pain and transient vision loss may also occur.
3. Abnormal sensations are a very common symptoms ms. The patient experiences a sensation as if pins and needles were pricking him. Itching, burning and numbness may also be felt.
4. Bladder problems like constant urge to pass urine or difficulty in controlling the urge is common because of weakness of bladder muscles.
5. Muscles spasms and a feeling of weakness
6. Extreme fatigue and tiredness. This leads to a slowness in work. Even the thinking power of these patients becomes slow.
7. Speech problems or dysarthria where the person has a very slow and slurred speech. They have to take along pause between two words and the speech tends to get a nasal twang.
8. Lack of concentration and poor memory have been seen in college going students where their academics is seriously affected. Sometimes the problem escalates so much that they are unable to do their day to day tasks.
9. Tremors that are felt in the hand.

Multiple Sclerosis Diagnosis

The most challenging part is ms diagnosis. There is no single test that can pin point the diagnosis. A neurologist will take a detailed history of the symptoms and their order of appearance. To confirm the diagnosis the following tests may be required.

• MRI of the brain
• Lumbar puncture to check the cerebro-spinal fluid
• Evoke potentials which is an electrical test to check the conduction of the nerves
• Blood tests

Treatment for Multiple Sclerosis

The main aim of the treatment is to slow down the progression of the disease. This is done by using disease modifying drugs that work by suppressing the body’s immune system. MS medications do not cure the disease but they slow down the disease pace and prevent further demyelination of the nerves. The quality of life of the patient tends to improve greatly by use of multiple sclerosis medications.

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The other common presentations of autism are Asperger’s syndrome where the child has above average intelligence. Pervasive Developmental Disorder or PDD is a condition where the child has some symptoms of autism but not all of them. These different presentations are just a finer classification and the symptoms are very close to each other. Gradually all these may be considered under a single diagnosis.

Causes and Pathophysiology of Autism

Neurological disorders like Parkinson’s have a definite pathophysiology where in the underlying cause can be identified at a molecular level. Autism does not have any such definite mechanism. Then what causes autism? Studies have shown that autism is a result of changes in the development of the brain immediately after conception. The changes in the brain are affected and enhanced by environmental factors.

Autism affects various parts of the brain that control emotional behavior and actions. Depending on the part of the brain affected, the predominant symptoms will appear.

• The amygdala is a part of the brain that controls emotional and aggressive behavior
• Cerebellum controls the motor activity, body movements and coordination of muscles used for speaking.

Another important pathology in autistic disorders is the affection of the immune system. In autistic children, the immune system is altered right from embryonic life. Studies have shown that if the pregnant mother is exposed to infections that affect the body’s immunity, the normal brain development of the baby gets disrupted. This is because a healthy immune system is very essential for proper neuro-development.

Symptoms and Signs of Autism

(a) Communication: Defects in communication begin in the first year of life in the form of delayed or no babbling, unresponsiveness and use of gestures to communicate. As the child grows, the words and small sentences do not come. Instead there is only repetition of words or use of random words when you try to strike a conversation with them. These are often the earliest signs of autism in children.

(b) Social Interaction: Autistic children have slow social development in the form of recognition, smiling and reacting to people and surroundings. In school such children are slow in making friends or keeping friends as they find it difficult to express themselves.

(c) Behavior: Children with autism exhibit repetitive behavior like rocking, spinning around etc. They like to do the same things over and over again. This is true for playing, talking or any other activity that they start. Their interests are restricted and they do not feel the need to learn anything new. Many children also have a habit of injuring themselves like picking at the skin, head banging etc.

If you notice a child who has such behavior, it does not mean that the child is autistic. However if the child has autism, these behaviors are exaggerated and very frequent in occurrence.

Diagnosis of Autism

The diagnosis of autism is done mainly on the basis of autism symptoms and not cause or pathology of disease. There are no diagnostic tests, blood tests or scans that can confirm autism. The appearance of the signs can be anywhere between 6 months to 3 years of age. ABA or applied behavior analysis can be useful in such cases. The following are the diagnostic features of autism spectrum disorders.

• Deficient communication
• Difficulty in social interaction
• Repetitive behaviors like spinning around, flapping of hands etc
• Lack of emotional and social reciprocation
• Functional impairment due to which the child cannot do day to day activities like wearing shoes, picking up stuff on his own
• Continuous preoccupation with objects
• Use of language in a way that cannot be understood
• Restricted interests and activities
• Physically the child may grow normally, but there is clear mental growth restriction

Red Flags of Autism

Most of the parents will notice one or more of these red flags by the age of 18 months and few of them will notice it by 24 months. The following red flags if present, mean that the child has to be subjected to further more detailed evaluation to confirm the cause of the developmental delay.

• No use of hand gestures for pointing or waving a bye by 12 months of age
• Absence of babbling even when the child is nearing one year of age
• No use of single words by 16 months
• No two word phrases by 24 months of age
• No eye contact
• Loss of an acquired skill at any age
• In babies, there is no response when their name is called out

Management of Children with Autism

There are no treatment options for autism or cure of autism as it is a lifelong disease. The main aim of management is to help the child and the family to cope with the situation and be able to perform day to day activities with ease.

Giving the child a lot of one to one time is the most helpful tip. The child should be given a chance to interact with peers who are his age and do not have autism. It can have positive effects on the child. The child should be encouraged and made to feel comfortable at all times. The chance and opportunity should be created for an autistic child to interact with people and participate in games, simple play or even playground activities.

Speech therapy autism and language therapy can help a child who has difficulty in articulating the speech and speaking clearly.

Occupational therapy autism proves beneficial for those children who have only physical disabilities like difficulty in coordinating movements. He will be taught things like dressing up, washing, wearing shoes etc. These minor changes help to boost the confidence of the child greatly.

Provide lots on encouragement at each step or whenever your child achieves a new thing. Special needs autism schools are also a good option to think about.

In some autistic children who are very violent or aggressive (Having ADHD-attention deficit hyperactivity disorder), medications may be required. However these will not be able to cure the problem itself but will make it easier for the caretakers to handle the child. Anti convulsive medication will be given if the child has associated epilepsy.

Alternate therapy and gluten free diet may help the child to some extent. But there are no studies that can prove the efficacy of such therapies.

Counseling sessions for the family and care givers are very important to help them cope and manage the child well. Siblings need to be separately counseled so that they can grow up without feeling ashamed or insecure of their brother or sister.

At home, ensure that the child’s routine is simple and predictable. New routine changes and change of place or surroundings can upset them very easily. Also give them some simple tasks that they can help you with. This feeling of being useful helps to boost their confidence and makes them feel important.

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Genes are the specialized segments present on the DNA at specific locations. The chromosome is a DNA molecule that contains complete or partial genetic material of any organism. Each individual has 23 pairs of chromosomes. A pair of 23 chromosomes is inherited from one parent each (one from the mother and one from the father). The genes that are transferred to the body of the child with this inheritance is responsible for the resemblance they hold with their parents. Example one child may inherit a blue eye gene from the mother where as the other may get a brown eye gene from the father. The same theory holds true for transmission of medical conditions and disorders. These are called genetically inherited diseases.

What is Gene Mutation?

When changes take place in the DNA, the genetic coding gets altered and this is what gives rise to gene mutations. These mutations can be neutral or same as the original. They may also lead to a change in the protein structure and have a beneficial effect or at times a useful protein may get deleted giving rise to a genetically inherited diseases or disorder in the individual.

Gene mutations are affected by environmental factors. Example if a person is exposed to cigarette smoke on a daily basis then the genes of the lung cells will undergo mutation and predispose the person to lung cancer even if he has no history of cancer in the family. Genes can also undergo mutation by effect of radiation (accidental radiation leak accidents or smoke that is loaded with chemicals). The genetically inherited diseases caused by mutations can be passed on to the children and predispose them to newer and rare genetic disorders.

Factors Affecting Genetically Inherited Diseases

It is not true that every gene that is inherited will cause a disease in the child. This is determined by certain factors and they are-

• Which gene is inherited?
• Whether the inherited gene is dominant or recessive in nature?
• Effect of environmental factors on the particular individual

Types of Genetic Inheritance

The inheritance of the genes can happen in the following ways-

(1) Single gene inheritance:

This type of genetic inheritance is also called as monogenetic inheritance. It is caused by the changes that occur in the DNA sequencing of a single gene. Single gene inheritance disorders tend to affect one in 200 births that take place. There are over 6000 recognized single gene disorders where a single gene is responsible for causing the trouble. Here is a list of diseases that are classified as monogenetic or single gene disorders.

• Sickle cell anemia
• Thalassemia
• Cystic fibrosis
• Haemochromatosis
• Huntington’s disease
• Marfan syndrome (one of the most rare genetic disorders)

There are three identified patterns in which single gene disorders are inherited and they are:

(a) Autosomal recessive inheritance: In this type of inheritance, if both the parents are “carriers” of a faulty gene. If the child gets one faulty gene then he also becomes a carrier of the disease but does not get the active disease. However if both the parents have one faulty gene each, then there are 25% chances of each child inheriting the disease and 50% chances of the child becoming a carrier of the disease. Thalassemia is the commonest example in this category. It is a disorder where the red blood cells are affected and not able to function normally leading to a low hemoglobin count in the individual and anemia.

(b) Autosomal dominant inheritance: In this type of genetically inherited diseases, if one of the parent has a faulty gene, then the chances of passing it on to the child is 50% since the affected gene is dominant in nature.

(c) X-linked inheritance: There are some genetic conditions that are caused by the mutation of X-chromosomes. X chromosomes are sex chromosomes and the pattern of inheritance is recessive but slightly different from autosomal recessive inheritance.

X linked inheritance affects males more commonly than females because females have two X chromosomes of which one is normal and able to suppress the mutated chromosome. So females who inherit the mutated genes normally become carriers of the disease. On the other hand when a male inherits an abnormal gene from his mother then the disease is actively manifested because he does not have a protective X chromosome. If the gene is received from the father, then the disease will not be dominant as he will receive a Y chromosome. So the manifestation of the disease depends totally on the inherited genes.

(2) Multiple Gene Inheritance:

Some genetic disorders may be multifactorial and complex in nature. They are associated with problems in more than one gene at the same time. Environmental and lifestyle factors play a very important role here. Examples of such diseases caused by mutations are:

• Autoimmune diseases
• Cancer
• Asthma
• Inflammatory bowel disease
• Obesity
• Hypertension
• Diabetes

Genetic Disorders Testing

There are specialized genetic testing clinics that carry out tests to understand the genetic pattern and inheritance of diseases. There are a number of reasons why people go for gene testing. Some do it to find out the diseases they may have in the future even if there is no treatment for them. Others do it to take important decisions like family planning. If the family history is positive and one of the parent is a known case of thalassemia then it is wise to get the other partner tested before planning a child. If both parents are carriers that is thalassemia minor there is a possibility that the child may have Thalassemia major. In such cases the genetic counselor will explain the possibilities and problems that their child could develop based on the genomic screening tests. Other options like surrogacy or adoption may also be advised. Thus genome testing becomes very important to prevent disorders in the unborn child. Other important uses of genetic tests are-

• Finding out if a person has a carrier gene for a disease which may be passed on to the child.
• Testing for genetically inherited diseases in adults before the symptoms start showing up.
• Screening the embryo in utero.
• Diagnosing genetic disease in unborn child.
• To reach a diagnosis regarding the type of the disorder a person is suffering from and to decide the line of treatment.

Genetic tests are usually voluntary but they need to be carried out with proper informed consent after explaining the scopes and limitations of the testing. The testing is done by checking a sample of blood, hair, skin or amniotic fluid. The sample is sent to the laboratory where it is processed and then the DNA is isolated and checked under a microscope. In a baby the testing is done by analysis of the fluid surrounding the baby in the uterus. This may help to identify the presence of genetic and chromosomal abnormalities like Down’s syndrome. Newborn genetic screening tests are done by taking a small quantity of blood sample immediately after the baby is born. In these screening tests the results are notified to the parents only if they are positive. If found positive, further workup needs to be carried out.

Treatment of Genetic Disorders

Treatment for genetic disorders is challenging and a matter of study and research since many years. The main aim of treatment remains improving the quality of life of the patient and helping him cope with day to day activities.

Gene therapy is a treatment mode which entails introduction of a healthy gene into the body with a view to reduce the effects of the defective gene. But the challenge faced here is that the gene is not directed at the exact location of the defective gene making the efficacy low. Studies are on to understand as to how a normal gene can be introduced into the body containing so many defective genes in order to totally correct the genetic diseases.

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