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Disorders

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disorders

How Can Light Therapy Aid People Experiencing Mood Disorders

Brightness therapy is often a relatively new technique to treat several different Types Of Disorders between seasonal Depressive Disorder to airliner lag. It is effective and has now very couple, mild adverse reactions. Can brightness therapy help you? What exactly is brightness therapy? Such type of therapy simulates daylight that you locate outdoors to restore the body rhythm returning to a standard pattern and help clients overcome certain mood difficulties. Light therapy uses a special brightness that lets out a light that could be brighter than that on the normal household lamp. Most brightness boxes emit a light that could be brighter than typical outdoor light, this short session of experience of the brightness usually facilitates.

Why is normally light treatment method used? Any such therapy is utilized to copy natural, outdoor light. Studies indicate that experience of natural brightness helpsto keep up our body natural rhythm. When you will find a lack of daylight it are able to disturb the normal rhythm and create issues such as Depression and seasonal affective condition SAD. This therapy is furthermore effective to help remedy other conditions such as jet lag, post-partum Depressive Disorder, and compulsive compulsive condition Ocd. Experience of these lights may possibly help individuals who work varying shifts restore a usual sleep period.

What could be the risks? Light therapy contains a few problems, however these are generally delicate. Some for the side side effects could comprise: headache, vomiting, eyestrain, frustration, fatigue, and irritability. Often adverse reactions will cover themselves after starting brightness therapy medication. However if they don’t go away completely by themselves, you should consider reducing made the effort that the treatment is applied or shift the time of day that you choose the brightness. A statement of extreme caution, light treatment method could trigger episodes of mania within patients by means of Bipolar condition. There is furthermore a chance of suicidal opinions in individuals who are suffering coming from severe depressive disorder.

If you are under a good doctor’s love one such disorders, please consult a medical expert before starting almost any alternative treatment method. How to make the most of your visits. For most effective results, you ought to use ones own light box concurrently each morning. Most healthcare professionals recommend using the box soon after you get up every day. Start which has a 15 min session and gradually work up to around 30 minutes to a couple hours.

Being consistent is essential when having a light compartment. You can be tempted to skip a day, but find ways of make ones own therapy time productive. Put your box for the table near you and in that case read a good book or even watch television. Light therapy may not work for every mood condition, but it might help greatly reduce symptoms and provide you relief. Spending a little while facing a brightness box on a daily basis will assist you to discover happiness with the little items again.

Click here: light therapy sad and http://lighttherapysad.com/no-more-sad/light-therapy-for-sad for more details.
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Rare Genetic Disorders

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rare genetic disorders

AN OVERVIEW ON PROGERIA: A RARE DISEASE OF CHILD

AN OVERVIEW ON PROGERIA: A RARE DISEASE OF CHILD

Kamal Singh Rathore, Sunita P., Khushboo Sharma, R.K.Nema

 

Progeria is a rare disease, fatal genetic condition that produces rapid aging, beginning in childhood also known as “Hutchinson–Gilford progeria syndrome” or “HGPS” and “Hutchinson–Gilford syndrome” wherein symptoms resembling aspects of aging are manifested at an early age. Progeria was first described in an academic journal by Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Gilford in 1897 – both in England.

 Its name is derived from the Greek and means “prematurely old.” Approximately 1 in 4000000 people are diagnosed with this condition. Those born with progeria typically live about 13-20 years, It is a genetic condition that occurs as a new mutation and is not usually inherited, although there is a uniquely inheritable form. This is in contrast to another rare but similar premature aging syndrome, dyskeratosis congenita (DKC), which is inheritable and will often be expressed multiple times in a family line.

Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic background. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 – 21 years). According to Hayley’s Page “At present there are 53 known cases of Progeria around the world and only 2 in the UK”. There is a reported incidence of Progeria of approximately 1 in every 4 to 8 million newborns. Both boys and girls run an equal risk of having Progeria.

Symptoms

Progeria is a progressive genetic Disorder That Causes children to age rapidly, beginning in their first two years of life. The condition is rare; since 1886, only about 130 cases of progeria have been documented in the scientific literature. Usually within the first year of life, growth of a child with progeria slows markedly so that height and weight fall below average for his or her age, and weight falls low for height. Motor development and mental development remain normal.

Signs And Symptoms of this progressive disorder include:

  • Limited growth or Growth failure during the first year of life
  • Narrow, shrunken or wrinkled face
  • failure to thrive
  • Baldness (alopecia)
  • Insulin-resistant diabetes (diabetes that does not respond readily to insulin injections)
  • Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
  • Loss of eyebrows and eyelashes
  • a distinctive appearance (small face and jaw, pinched nose)
  • Short stature and small, fragile bodies, like those of elderly people
  • Large head for size of face (macrocephaly)
  • Open soft spot (fontanelle)
  • Small jaw (micrognathia)
  • Dry, scaly, thin skin
  • Limited range of motion
  • Teeth – delayed or absent formation
  • Later, the condition causes wrinkled skin, atherosclerosis, and cardiovascular problems.
  • Slowed growth, with below-average height and weight
  • A narrowed face and beaked nose, which makes the child look old
  • Head too large for face
  • Prominent scalp veins
  • Prominent eyes
  • Small lower jaw (micrognathia)
  • High-pitched voice
  • Delayed and abnormal tooth formation
  • Loss of body fat and muscle
  • Stiff joints
  • Hip dislocation

Causes

Progeria usually occurs without cause – it is not seen in siblings of affected children. In extremely rare cases more than one child in the same family may have the condition.

 It is only very rarely seen in more than one child in a family. Progeria is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene (Lamin A), replacing cytosine with thymine, creating an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope. 90% of children with progeria have a mutation on the gene that encodes the protein lamin A. a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients.

Diagnosis

Diagnosis is suspected according to signs And Symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test. The health care professional will possibly suspect Progeria if the signs and symptoms are there – aging skin, loss of hair, stiffness of joints, etc. This can then be confirmed through a genetic test. The Progeria Research Foundation has created a Diagnostic Testing Program.

No diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, which typically aren’t fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it’s possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and Symptoms Of The Disorder.

A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn’t diagnostic by itself, but may lend support to a diagnosis of progeria.

 Treatment

No treatments have been proven effective.

  • Most treatment focuses on reducing complications (such as cardiovascular disease) with heart bypass surgery or low-dose aspirin. A daily dose may help prevent heart attacks and stroke.
  • Growth hormone treatment has been attempted.
  • Drugs known as farnesyltransferase inhibitors (FTIs), which were developed for treating cancer, have shown promise in laboratory studies in correcting the cell defects that cause progeria. FTIs are currently being studied in human clinical trials for treatment of progeria. it has been proposed, but their use has been mostly limited to animal models. A Phase II clinical trial using the FTI Lonafarnib began in May 2007.
  • Physical and occupational therapy. These may help with joint stiffness and hip problems, and may allow your child to remain active.
  • High-calorie dietary supplements. Including extra calories in your child’s daily diet may help prevent weight loss and ensure adequate nutrition.
  • Feeding tube. Infants who feed poorly may benefit from a feeding tube and a syringe. You can use the syringe to push pumped breast milk or formula through the tube to make it easier for your child to feed.
  • Extraction of primary teeth. Your child’s permanent teeth may start coming in before his or her baby teeth fall out. Extraction may help prevent problems associated with the delayed loss of baby teeth, including overcrowding and developing a second row of teeth when permanent teeth come in.

Prognosis

There is no known cure. Few people with progeria exceed 13 years of age. At least 90% of patients die from complications of atherosclerosis, such as heart attack or stroke.

Mental development is not affected. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, patients show no neurodegeneration or cancer predisposition. They do not develop physically mediated “wear and tear” conditions commonly associated with aging, like cataracts (caused by UV exposure) and osteoarthritis (caused by mechanical wear).

Epidemiology

Classical Hutchinson-Gilford Progeria Syndrome is almost never passed on from parent to child. It is usually caused by a new (sporadic) mutation during the early division of the cells in the child. It is usually genetically dominant; therefore, parents who are healthy will normally not pass it on to their children. Affected children rarely live long enough to have children themselves.

Research indicates that a chemical (hyaluronic acid) may be found in greatly elevated levels in the urine of Hutchinson-Gilford Progeria Syndrome patients. The same abnormality has been found in Werner Syndrome, which is sometimes called ‘progeria of the adult’.

Lamin A

Nuclear lamin A is a protein scaffold on the inner edge of the nucleus that helps organize nuclear processes such as RNA and DNA synthesis.

Prelamin A contains a CAAX box at the C-terminus of the protein (where C is a cysteine and A is any aliphatic amino acids). This ensures that the cysteine is farnesylated and allows prelamin A to bind membranes, specifically the nuclear membrane. After prelamin A has been localized to the cell nuclear membrane, the C-terminal amino acids, including the farnesylated cysteine, are cleaved off by a specific protease. The resulting protein is now lamin A, is no longer membrane-bound, and carries out functions inside the nucleus.

In 2003, NHGRI researchers, together with colleagues at the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan, discovered that Hutchinson-Gilford progeria is caused by a tiny, point mutation in a single gene, known as lamin A (LMNA). Parents and siblings of children with progeria are virtually never affected by the disease. In accordance with this clinical observation, the genetic mutation appears in nearly all instances to occur in the sperm prior to conception. It is remarkable that nearly all cases are found to arise from the substitution of just one base pair among the approximately 25,000 DNA base pairs that make up the LMNA gene. The LMNA gene codes for two proteins, lamin A and lamin C, that are known to play a key role in stabilizing the inner membrane of the cell’s nucleus. In laboratory tests involving cells taken from progeria patients, researchers have found that the mutation responsible for Hutchinson-Gilford progeria causes the LMNA gene to produce an abnormal form of the lamin A protein. That abnormal protein appears to destabilize the cell’s nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the cardiovascular and musculoskeletal systems. Interestingly, different mutations in the same LMNA gene have been shown to be responsible for at least a half-dozen other Genetic Disorders, including two rare forms of muscular dystrophy. In addition to its implications for diagnosis and possible treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed new light on humans’ normal aging process.

Possible Complications

Heart attack (myocardial infarction)

Stroke

How we can help children with Progeria?

  • Make a financial contribution. Donations are needed to continue the vital work. No donation is too little or too big – every penny counts in our fight for a cure!
  • Donate your time. Volunteers are also important to  success. Hold a special event like a bake sale or letter writing campaign; translate documents for the families; help with a mailing – we’ll find something for you to do that fits your schedule, location and talents!
  • Donate in-kind services or items. Do you own a printing or office supply business? Do you have a background in non-profit development? These are just some of the many types of talents and connections. The more tasks we can get accomplished on a pro bono basis, the more we can spend on research!
  • Spread the word and tap into your connections. Do you know anyone who can do any of the above.

Care, Coping and support

  • Learning your child has progeria can be emotionally devastating. Suddenly you know that your child is facing numerous, difficult challenges and a shortened life span. For you and your family, coping with the disorder involves a major commitment of physical, emotional and financial effort.
  • In dealing with a disorder such as progeria, support groups can be a valuable part of a wider network of social support that includes health care professionals, family and friends. In a support group, you’ll be with people who are facing challenges similar to the one that you are. Talking to group members can help you cope with your own feelings about your child’s condition. If a group isn’t for you, talking to a therapist or clergy member may be beneficial.
  • Ask your doctor about self-help groups or therapists in your community. Your local health department, public library, telephone book and the Internet also may be good sources for finding a support group in your area.

Helping the child to cope

  • If your child has progeria, he or she is also likely to experience fear and grief as awareness grows that progeria shortens life span. Your child eventually will need your help coping with the concept of death, and may have a number of difficult but important questions about God and religion. Your child also may ask questions about what will happen in your family after he or she dies.
  • It’s critical that you are able to talk openly and honestly with your child, and offer reassurance that’s compatible with your belief system. Ask your doctor, therapist or clergy member to help you prepare for such conversations with your child. Friends who you meet through support groups also may be able to offer valuable guidance.

Conclusion and General Discussion

Progeria, or Hutchinson-Gilford progeria syndrome, is a rare, fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximately nine to 24 months of age, affected children begin to experience profound growth delays, resulting in short stature and low weight. They also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head; an underdeveloped jaw (micrognathia); malformation and crowding of the teeth; abnormally prominent eyes; a small, nose; prominent eyes and a subtle blueness around the mouth. In addition, by the second year of life, the scalp hair, eyebrows, and eyelashes are lost (alopecia), and the scalp hair may be replaced by small, downy, white or blond hairs. Additional characteristic features include generalized atherosclerosis, cardiovascular disease and stroke, hip dislocations, unusually prominent veins of the scalp, loss of the layer of fat beneath the skin (subcutaneous adipose tissue), defects of the nails, joint stiffness, skeletal defects, and/or other abnormalities. According to reports in the medical literature, individuals with Hutchinson-Gilford progeria syndrome develop premature, widespread thickening and loss of elasticity of artery walls (arteriosclerosis), which result in life-threatening complications during childhood, adolescence, or early adulthood. Children with progeria die of heart disease (atherosclerosis) at an average age of 13 years, with a range of about eight to 21 years.

Progeria is caused by a mutation of the gene LMNA, or lamin A. The lamin A protein is the scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in progeria. Because neither parent carries or expresses the mutation, each case is believed to represent a sporadic, new mutation that happens most notably in a single sperm or egg immediately prior to conception.

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  • Hutchison-Gilford progeria syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome. Accessed March 5, 2009.
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Support Groups

Progeria Research Foundation, Inc. – www.progeriaresearch.org

About the Author

Reader, Bhupal Nobles’ Girls’ College of Pharmacy, Udaipur-Raj.313002 INDIA
Email: kamalsrathore@yahoo.com
kamalsrathore@gmail.com
Mobile: +919828325713

Holt Oram Syndrome: A rare Genetic Disease

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Genetic Disorders

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genetic disorders

The Importance of Genetic Counseling – it Pays to Keep Eyes Open

At times, it is fatal to undermine the importance of genetic counseling. In cases where the woman is more than 36 years of age or where the couple is in relation to each other, it is important to find the family history of the couple. Genetic counseling helps in diagnosing of any risk factors to the impending pregnancy. If the couple is in close relation, then their genes may be the same, which may force the pregnancy into deformities. In such cases, you are assigned to support groups, which make you understand the risks to which your child will be exposed if you decide to opt for pregnancy. It is important to understand the situation clearly at the pre pregnancy stage to avoid having mental and physical Disorders in the child.

Reasons For Genetic Counseling

Everybody wants to have a healthy offspring. However, it is not always so. Therefore, to be on the safe side it is important to take genetic counseling if you have any of the following conditions, at the pre pregnancy planning stage.

If your partner is 35 years old.

If you are related to each other.

if you have a disorder like cystic fibrosis.

if you have a child with Mental Disorder.

if your child has Genetic Disorder.

if you have constant miscarriages or if your babies are still born.

if you have STD.

if you have been exposed to or have exposure to toxins like teratogens.

if your family has had a history of a particular disease.

if you have a physical deformity of any kind.

if you catch pregnancy infections

if your family has a history of epilepsy.

Classification Of Tests

Certain carrier and screening tests are performed on couples who have any of the aforementioned conditions. The carrier test examines for a kind of Blood Disorder called Thalassemia. This disorder afflicts people of Mediterranean origin, and people belonging to Africa and southern Asia. The disease cystic fibrosis usually afflicts people of Caucasian origin. This disease affects the lungs. African Americans are usually born with the sickle cell disease, a Blood Disorder. The tay-sachs disease can cause fatal damage to the brain and usually afflicts the descendants of east European Jews. The screening tests can also determine the Huntington’s disease and the hemophilia disease. How can one undermine the importance of genetic counseling.

These tests forewarn parents working in factories and poor conditions, where they are exposed to substances like radiation and teratogens, whether their bodies are fit to become parents or not. Genetic counseling helps them to organize themselves, free themselves of these harmful substances at the pregnancy planning stage, and deliver healthy babies. AFP is another screening test that determines birth defects and other defects like the spina bifida and anencephaly. It also detects neural tube defects. In modern times, the ultrasound test has become very common among pregnant women. This test can find out if the fetus has any deformity or malformation of any part of the body. Genetic Disorders and Developmental Disorders can be detected with the test of Amniocentesis. The importance of genetic counseling is evident again over here.

Not Very Costly

The cost of genetic counseling is quite affordable. It can cost anywhere from $100 to $300. Most insurance policies cover genetic counseling. Do not be daunted by the costs or the unpleasing words of wisdom. Always understand it is in the best interest of the child. Moreover, if at all you are advised against pregnancy, then you can always adopt a child from a childcare center. You as parents are going to give the most precious gift to the child, LOVE. Therefore do not take it lightly and give due importance to genetic counseling.

About the Author

There is no denying the Importance of genetic counseling for pregnancy planning. Genetic counseling plays a vital role in pre pregnancy planning because by this process you can rule out the possibility of genetic disorders in your future child at the pre pregnancy stage and take remedial measures. Most Fertile Period is your free online resource providing more information on genetic counseling, fertility treatments, pregnancy, cord blood banking, maternity clothing, breastfeeding, and other pregnancy related issues.

Triad Girl Has Rare Genetic Disorder

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