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New mom? Eat right and exercise

 

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

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

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

 

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

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

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

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

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

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

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

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

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

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

Source: The Telegraph ( Kolkata, India)

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Mostly Third of Childbirths are Cesareans

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The cesarean birth — delivery via uterine incision — was once reserved for cases in which the life of the baby or mother was in danger. But now it is a routine practice. It is in fact the most common operation in the United States; performed in 31 percent of births, up from a mere 4.5 percent in 1965.

With that surge has come an explosion in medical bills and an increase in complications. Now, the use of cesareans is being reconsidered. It is a major reason childbirth often is held up in healthcare reform debates as an example of how the intensive and expensive U.S. brand of medicine has failed to deliver better results, and may actually be doing more harm than good.

Childbirth is the number one cause of hospital admissions, and is a huge part of the nation’s $2.4-trillion annual healthcare expenditure. Spending on the average uncomplicated cesarean runs from $4,500 to $13,000, much more than a comparable vaginal birth. And the cesarean rate in the U.S. is higher than in most other developed nations despite a standing government goal of reducing such deliveries.

The cesarean also exposes a woman to the risk of infection, blood clots and other serious problems. Cesareans have been shown to increase premature births and the need for intensive care for newborns. Even without such complications, cesareans result in longer hospital stays.

Sources: Los Angeles Times May 17, 2009

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Birthing Chair to Give Relief to Mothers

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The problem of excruciating delivery pain experienced by women during childbirth seems to have found an answer in birthing chairs, now  popular in the west.

A private hospital in Kolkata is all set to introduce birthing chairs for would-be-mothers to reduce the painful process to some extent.

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“Birthing chair helps women deliver much easily in shorter time. We will soon have one such chair in our hospital to begin with,” said Kamal K. Dutta, diplomate of American Board of Obstetrics and Gynaecology and chairman and managing director of Ruby General Hospital.

In India delivery takes place in lying posture. But he said, “During earlier days, around 100 years back, people used to give birth in sitting postures. They used to sit and push and the gravity helped the baby come out. Let us help the mother to deliver.”

Describing the utility of the chair, being introduced for the first time in eastern India, he said it is more comfortable and hoped women here would slowly start accepting this new technique.

“At first we will import one chair from the US. And display it in the maternity unit and show it to the pregnant women and make them aware of its utility,” Dutta, a non-resident Indian, said.

Each chair costs around $20,000.

“In the first stage the mother is lying on the bed, then she has the urge to push the baby out and the whole process becomes convenient in sitting posture. It is difficult to do this while lying on the bed,” he said.

Dutta laid stress on increasing the number of normal delivery in India compared to caesarean.

“We are keen to increase the number of normal deliveries in India. Normal deliveries are safer and reduce the chances of infection and bleeding after delivery,” he said.

In the US, 70% of deliveries are done on the birthing chair.

To increase awareness among people, Dutta is planning to start pre-natal classes to educate pregnant women. “We will show them the video of normal and caesarean delivery, the birthing chair and let them decide which one they want to opt for.”

In his bid to popularise normal delivery, he said, “We will guarantee that there will be no pain. We will use epidural anaesthesia to continuously decrease the labour pain.”

Epidural anaesthesia is a local anaesthesia to reduce to pain.

Dutta, who left India in 1976 for the US, practises at New Jersey and is a Fellow of American College of Obstetrics and Gynaecology, says he wants to break the ‘myth of pregnancy’.

“Here people are scared of the pain, that’s why they opt for caesarean delivery. Let’s see whether we can break the myth,” he said.

Leelavathi Hospital in Mumbai already has a birthing chair.

Noted gynaecologist S Dawn expressed happiness at the birthing chair becoming available in eastern India, but said the cost could be prohibitive.

“This is a good drive that someone is bringing the chair into this region. It will give some comfort to the patients. But one should have proper infrastructure and this is an expensive way,” said Dawn, also secretary general of Narchi, an NGO of doctors.

Sources: The Times Of India

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Down Syndrome

Boy assembling a book case
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Definition
Down syndrome is the most common cause of mental retardation and malformation in a newborn. It occurs because of the presence of an extra chromosome.

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Chromosomes are the units of genetic information that exist within every cell of the body. Twenty-three distinctive pairs, or 46 total chromosomes, are located within the nucleus (central structure) of each cell. When a baby is conceived by the combining of one sperm cell with one egg cell, the baby receives 23 chromosomes from each parent, for a total of 46 chromosomes. Sometimes, an accident in the production of a sperm or egg cell causes that cell to contain 24 chromosomes. This event is referred to as nondisjunction. When this defective cell is involved in the conception of a baby, that baby will have a total of 47 chromosomes. The extra chromosome in Down syndrome is labeled number 21. For this reason, the existence of three such chromosomes is sometimes referred to as Trisomy 21.

In a very rare number of Down syndrome cases (about 1–2%), the original egg and sperm cells are completely normal. The problem occurs sometime shortly after fertilization; during the phase where cells are dividing rapidly. One cell divides abnormally, creating a line of cells with an extra chromosome 21. This form of genetic disorder is called a mosaic. The individual with this type of Down syndrome has two types of cells: those with 46 chromosomes (the normal number), and those with 47 chromosomes (as occurs in Down syndrome). Some researchers have suggested that individuals with this type of mosaic form of Down syndrome have less severe signs and symptoms of the disorder.

Another relatively rare genetic accident which can cause Down syndrome is called translocation. During cell division, the number 21 chromosome somehow breaks. A piece of the 21 chromosome then becomes attached to another chromosome. Each cell still has 46 chromosomes, but the extra piece of chromosome 21 results in the signs and symptoms of Down syndrome. Translocations occur in about 3–4% of cases of Down syndrome.

Down syndrome occurs in about one in every 800–1,000 births. It affects an equal number of boys and girls. Less than 25% of Down syndrome cases occur due to an extra chromosome in the sperm cell. The majority of cases of Down syndrome occur due to an extra chromosome 21 within the egg cell supplied by the mother (nondisjunction). As a woman’s age (maternal age) increases, the risk of having a Down syndrome baby increases significantly. For example, at younger ages, the risk is about one in 4,000. By the time the woman is age 35, the risk increases to one in 400; by age 40 the risk increases to one in 110; and by age 45 the risk becomes one in 35. There is no increased risk of either mosaicism or translocation with increased maternal age.

Causes and Symptoms:-
While Down syndrome is a chromosomal disorder, a baby is usually identified at birth through observation of a set of common physical characteristics. Babies with Down syndrome tend to be overly quiet, less responsive, with weak, floppy muscles. Furthermore, a number of physical signs may be present. These include:

*flat appearing face
*small head
*flat bridge of the nose
*smaller than normal, low-set nose
*small mouth, which causes the tongue to stick out and to appear overly large
*upward slanting eyes
*extra folds of skin located at the inside corner of each eye, near the nose (called epicanthal folds)
*rounded cheeks
*small, misshapen ears
*small, wide hands
*an unusual, deep crease across the center of the palm (called a simian crease)
*a malformed fifth finger
*a wide space between the big and the second toes
*unusual creases on the soles of the feet
*overly-flexible joints (sometimes referred to as being double-jointed)
*ahorter than normal height

Other types of defects often accompany Down syndrome. About 30–50% of all children with Down syndrome are found to have heart defects. A number of different heart defects are common in Down syndrome, including abnormal openings (holes) in the walls that separate the heart’s chambers (atrial septal defect, ventricular septal defect). These result in abnormal patterns of blood flow within the heart. The abnormal blood flow often means that less oxygen is sent into circulation throughout the body. Another heart defect that occurs in Down syndrome is called Tetralogy of Fallot. Tetralogy of Fallot consists of a hole in the heart, along with three other major heart defects.

Malformations of the gastrointestinal tract are present in about 5–7% of children with Down syndrome. The most common malformation is a narrowed, obstructed duodenum (the part of the intestine into which the stomach empties). This disorder, called duodenal atresia, interferes with the baby’s milk or formula leaving the stomach and entering the intestine for digestion. The baby often vomits forcibly after feeding, and cannot gain weight appropriately until the defect is repaired.

Other medical conditions that occur in patients with Down syndrome include an increased chance of developing infections, especially ear infections and pneumonia; certain kidney disorders; thyroid disease (especially low or hypothyroid); hearing loss; vision impairment requiring glasses (corrective lenses); and a 20-times greater chance of developing leukemia (a blood disorder).

Development in a baby and child with Down syndrome occurs at a much slower than normal rate. Because of weak, floppy muscles (hypotonia), babies learn to sit up, crawl, and walk much later than their normal peers. Talking is also quite delayed. The level of mental retardation is considered to be mild-to-moderate in Down syndrome. The actual IQ range of Down syndrome children is quite varied, but the majority of such children are in what is sometimes known as the trainable range. This means that most people with Down syndrome can be trained to do regular self-care tasks, function in a socially appropriate manner in a normal home environment, and even hold simple jobs.

As people with Down syndrome age, they face an increased chance of developing the brain disease called Alzheimer’s (sometimes referred to as dementia or senility). Most people have a six in 100 risk of developing Alzheimer’s, but people with Down syndrome have a 25 in 100 chance of the disease. Alzheimer’s disease causes the brain to shrink and to break down. The number of brain cells decreases, and abnormal deposits and structural arrangements occur. This process results in a loss of brain functioning. People with Alzheimer’s have strikingly faulty memories. Over time, people with Alzheimer’s disease will lapse into an increasingly unresponsive state. Some researchers have shown that even Down syndrome patients who do not appear to have Alzheimer’s disease have the same changes occurring to the structures and cells of their brains.

As people with Down syndrome age, they also have an increased chance of developing a number of other illnesses, including cataracts, thyroid problems, diabetes, and seizure disorders.

Diagnosises:-
Diagnosis is usually suspected at birth, when the characteristic physical signs of Down syndrome are noted. Once this suspicion has been raised, genetic testing (chromosome analysis) can be undertaken in order to verify the presence of the disorder. This testing is usually done on a blood sample, although chromosome analysis can also be done on other types of tissue, including skin. The cells to be studied are prepared in a laboratory. Chemical stain is added to make the characteristics of the cells and the chromosomes stand out. Chemicals are added to prompt the cells to go through normal development, up to the point where the chromosomes are most visible, prior to cell division. At this point, they are examined under a microscope and photographed. The photograph is used to sort the different sizes and shapes of chromosomes into pairs. In most cases of Down syndrome, one extra chromosome 21 will be revealed. The final result of such testing, with the photographed chromosomes paired and organized by shape and size, is called the individual’s karyotype.

Two types of prenatal tests are used to detect Down syndrome in a fetus: screening tests and diagnostic tests. Screening tests estimate the risk that a fetus has DS; diagnostic tests can tell whether the fetus actually has the condition.

Screening tests are cost-effective and easy to perform. But because they can’t give a definitive answer as to whether a baby has DS, these tests are used to help parents decide whether to have more diagnostic tests.

Diagnostic tests are about 99% accurate in detecting Down syndrome and other chromosomal abnormalities. However, because they’re performed inside the uterus, they are associated with a risk of miscarriage and other complications.

For this reason, invasive diagnostic testing previously was generally recommended only for women age 35 or older, those with a family history of genetic defects, or those who’ve had an abnormal result on a screening test.

However, the American College of Obstetrics and Gynecology (ACOG) now recommends that all pregnant women be offered screening with the option for invasive diagnostic testing for Down syndrome, regardless of age.

If you’re unsure about which test, if any, is right for you, your doctor or a genetic counselor can help you sort through the pros and cons of each.

Screening tests include:-
*Nuchal translucency testing. This test, performed between 11 and 14 weeks of pregnancy, uses ultrasound to measure the clear space in the folds of tissue behind a developing baby’s neck. (Babies with DS and other chromosomal abnormalities tend to accumulate fluid there, making the space appear larger.) This measurement, taken together with the mother’s age and the baby’s gestational age, can be used to calculate the odds that the baby has DS. Nuchal translucency testing is usually performed along with a maternal blood test.

*The triple screen or quadruple screen (also called the multiple marker test). These tests measure the quantities of normal substances in the mother’s blood. As the names imply, triple screen tests for three markers and quadruple screen includes one additional marker and is more accurate. These tests are typically offered between 15 and 18 weeks of pregnancy.

*Integrated screen. This uses results from first trimester screening tests (with or without nuchal translucency) and blood tests with second trimester quad screen to come up with the most accurate screening results.

*A genetic ultrasound. A detailed ultrasound is often performed at 18 to 20 weeks in conjunction with the blood tests, and it checks the fetus for some of the physical traits abnormalities associated with Down syndrome.

Diagnostic tests include:-
*Chorionic villus sampling (CVS). CVS involves taking a tiny sample of the placenta, either through the cervix or through a needle inserted in the abdomen. The advantage of this test is that it can be performed during the first trimester, between 8 and 12 weeks. The disadvantage is that it carries a slightly greater risk of miscarriage as compared with amniocentesis and has other complications.

*Amniocentesis. This test, performed between 15 and 20 weeks of pregnancy, involves the removal of a small amount of amniotic fluid through a needle inserted in the abdomen. The cells can then be analyzed for the presence of chromosomal abnormalities. Amniocentesis carries a small risk of complications, such as preterm labor and miscarriage.

*Percutaneous umbilical blood sampling (PUBS). Usually performed after 20 weeks, this test uses a needle to retrieve a small sample of blood from the umbilical cord. It carries risks similar to those associated with amniocentesis.
After a baby is born, if the doctor suspects DS based on the infant’s physical characteristics, a karyotype — a blood or tissue sample stained to show chromosomes grouped by size, number, and shape — can be performed to verify the diagnosis.

Treatment:-
No treatment is available to cure Down syndrome. Treatment is directed at addressing the individual concerns of a particular patient. For example, heart defects will many times require surgical repair, as will duodenal atresia. Many Down syndrome patients will need to wear glasses to correct vision. Patients with hearing impairment benefit from hearing aids.

At one time, most children with Down syndrome did not live past childhood. Many would often become sick from infections. Others would die from their heart problems or other problems they had at birth. Today, most of these health problems can be treated and most children who have it will grow into adulthood.

Medicines can help with infections and surgery can correct heart, stomach, and intestinal problems. If the person gets leukaemia, there are medical treatments that can be very successful. Someone with Down syndrome has a good chance of living to be 50 years old or more.

A new drug, referred to as a “smart drug,” has been receiving some attention in the treatment of Down syndrome patients. This drug, piracetam, has not been proven to increase intellectual ability, despite testimonials that have been receiving attention on television and the Internet. Piracetam has not been approved for use in the United States, although it is being sold via the Internet. The National Down Syndrome Society and the National Down Syndrome Congress do not recommend the use of this drug as of 2001.

While some decades ago, all Down syndrome children were quickly placed into institutions for lifelong care. Research shows very clearly that the best outlook for children with Down syndrome is a normal family life in their own home. This requires careful support and education of the parents and the siblings. It is a life-changing event to learn that a new baby has a permanent condition that will effect essentially all aspects of his or her development. Some community groups exist to help families deal with the emotional effects of this new information, and to help plan for the baby’s future. Schools are required to provide services for children with Down syndrome, sometimes in separate special education classrooms, and sometimes in regular classrooms (this is called mainstreaming or inclusion).

Prognosis:-
The prognosis in Down syndrome is quite variable, depending on the types of complications (heart defects, susceptibility to infections, development of leukemia) of each individual baby. The severity of the retardation can also vary significantly. Without the presence of heart defects, about 90% of children with Down syndrome live into their teens. People with Down syndrome appear to go through the normal physical changes of aging more rapidly, however. The average age of death for an individual with Down syndrome is about 50–55 years.

Still, the prognosis for a baby born with Down syndrome is better than ever before. Because of modern medical treatments, including antibiotics to treat infections and surgery to treat heart defects and duodenal atresia, life expectancy has greatly increased. Community and family support allows people with Down syndrome to have rich, meaningful relationships. Because of educational programs, some people with Down syndrome are able to hold jobs.

Men with Down syndrome appear to be uniformly sterile (meaning that they are unable to have offspring). Women with Down syndrome, however, are fully capable of having babies. About 50% of these babies, however, will also be born with Down syndrome.

Prevention:-
Efforts at prevention of Down syndrome are aimed at genetic counseling of couples who are preparing to have babies. A counselor needs to inform a woman that her risk of having a baby with Down syndrome increases with her increasing age. Two types of testing is available during a pregnancy to determine if the baby being carried has Down syndrome.

Screening tests are used to estimate the chance that an individual woman will have a baby with Down syndrome. At 14–17 weeks of pregnancy, measurements of a substance called AFP (alpha-fetoprotein) can be performed. AFP is normally found circulating in the blood of a pregnant woman, but may be unusually high or low with certain disorders. Carrying a baby with Down syndrome often causes AFP to be lower than normal. This information alone, or along with measurements of two other hormones, is considered along with the mother’s age to calculate the risk of the baby being born with Down syndrome. These results are only predictions, and are only correct about 60% of the time.

The only way to definitively establish (with about 98–99% accuracy) the presence or absence of Down syndrome in a developing baby, is to test tissue from the pregnancy itself. This is usually done either by amniocentesis or chorionic villus sampling (CVS). In amniocentesis, a small amount of the fluid in which the baby is floating is withdrawn with a long, thin needle. In chorionic villus sampling, a tiny tube is inserted into the opening of the uterus to retrieve a small sample of the placenta (the organ that attaches the growing baby to the mother via the umbilical cord, and provides oxygen and nutrition). Both amniocentesis and CVS allow the baby’s own karyotype to be determined. A couple must then decide whether to use this information in order to begin to prepare for the arrival of a baby with Down syndrome, or to terminate the pregnancy.

Once a couple has had one baby with Down syndrome, they are often concerned about the likelihood of future offspring also being born with the disorder. Most research indicates that this chance remains the same as for any woman at a similar age. However, when the baby with Down syndrome has the type that results from a translocation, it is possible that one of the two parents is a carrier of that defect. A carrier “carries” the genetic defect, but does not actually have the disorder. When one parent is a carrier of a translocation, the chance of future offspring having Down syndrome is greatly increased. The specific risk will have to be calculated by a genetic counselor.

Research:-
Main article: Research of Down syndrome-related genes
Down syndrome is “a developmental abnormality characterized by trisomy of human chromosome 21″ (Nelson 619). The extra copy of chromosome-21 leads to an over expression of certain genes located on chromosome-21.

Research by Arron et al shows that some of the phenotypes associated with Down Syndrome can be related to the dysregulation of transcription factors (596), and in particular, NFAT. NFAT is controlled in part by two proteins, DSCR1 and DYRK1A; these genes are located on chromosome-21 (Epstein 582). In people with Down Syndrome, these proteins have 1.5 times greater concentration than normal (Arron et al. 597). The elevated levels of DSCR1 and DYRK1A keep NFAT primarily located in the cytoplasm rather than in the nucleus, preventing NFATc from activating the transcription of target genes and thus the production of certain proteins (Epstein 583).

This dysregulation was discovered by testing in transgenic mice that had segments of their chromosomes duplicated to simulate a human chromosome-21 trisomy (Arron et al. 597). A test involving grip strength showed that the genetically modified mice had a significantly weaker grip, much like the characteristically poor muscle tone of an individual with Down Syndrome (Arron et al. 596). The mice squeezed a probe with a paw and displayed a .2 newton weaker grip (Arron et al. 596). Down syndrome is also characterized by increased socialization. When modified and unmodified mice were observed for social interaction, the modified mice showed as much as 25% more interactions as compared to the unmodified mice (Arron et al. 596).

The genes that may be responsible for the phenotypes associated may be located proximal to 21q22.3. Testing by Olson et al. in transgenic mice show the duplicated genes presumed to cause the phenotypes are not enough to cause the exact features. While the mice had sections of multiple genes duplicated to approximate a human chromosome-21 triplication, they only showed slight craniofacial abnormalities (688-690). The transgenic mice were compared to mice that had no gene duplication by measuring distances on various points on their skeletal structure and comparing them to the normal mice (Olson et al. 687). The exact characteristics of Down Syndrome were not observed, so more genes involved for Down Syndrome phenotypes have to be located elsewhere.

Reeves et al, using 250 clones of chromosome-21 and specific gene markers, were able to map the gene in mutated bacteria. The testing had 99.7% coverage of the gene with 99.9995% accuracy due to multiple redundancies in the mapping techniques. In the study 225 genes were identified (311-313).

The search for major genes that may be involved in Down syndrome symptoms is normally in the region 21q21–21q22.3. However, studies by Reeves et al. show that 41% of the genes on chromosome-21 have no functional purpose, and only 54% of functional genes have a known protein sequence. Functionality of genes was determined by a computer using exon prediction analysis (312). Exon sequence was obtained by the same procedures of the chromosome-21 mapping.

Research has led to an understanding that two genes located on chromosome-21, that code for proteins that control gene regulators, DSCR1 and DYRK1A can be responsible for some of the phenotypes associated with Down Syndrome. DSCR1 and DYRK1A cannot be blamed outright for the symptoms; there are a lot of genes that have no known purpose. Much more research would be needed to produce any appropriate or ethically acceptable treatment options.

Recent use of transgenic mice to study specific genes in the Down syndrome critical region has yielded some results. APP is an Amyloid beta A4 precursor protein. It is suspected to have a major role in cognitive difficulties. Another gene, ETS2 is Avian Erythroblastosis Virus E26 Oncogene Homolog 2. Researchers have “demonstrated that over-expression of ETS2 results in apoptosis. Transgenic mice over-expressing ETS2 developed a smaller thymus and lymphocyte abnormalities, similar to features observed in Down syndrome.”

Vitamin supplements, in particular supplemental antioxidants and folinic acid, have been shown to be ineffective in the treatment of Down syndrome.

Sociological and cultural aspects:-
Advocates for people with Down syndrome point to various factors, such as additional educational support and parental support groups to improve parenting knowledge and skills. There are also strides being made in education, housing, and social settings to create environments which are accessible and supportive to people with Down syndrome. In most developed countries, since the early twentieth century many people with Down syndrome were housed in institutions or colonies and excluded from society. However, since the early 1960s parents and their organizations (such as MENCAP), educators and other professionals have generally advocated a policy of inclusion, bringing people with any form of mental or physical disability into general society as much as possible. In many countries, people with Down syndrome are educated in the normal school system; there are increasingly higher-quality opportunities to move from special (segregated) education to regular education settings.

Despite these changes, the additional support needs of people with Down syndrome can still pose a challenge to parents and families. Although living with family is preferable to institutionalization, people with Down syndrome often encounter patronizing attitudes and discrimination in the wider community.

The first World Down Syndrome Day was held on 21 March 2006. The day and month were chosen to correspond with 21 and trisomy respectively. It was proclaimed by European Down Syndrome Association during their European congress in Palma de Mallorca (febr. 2005). In the United States, the National Down Syndrome Society observes Down Syndrome Month every October as “a forum for dispelling stereotypes, providing accurate information, and raising awareness of the potential of individuals with Down syndrome.” In South Africa, Down Syndrome Awareness Day is held every October 20.[49] Organizations such as Special Olympics Hawaii provide year-round sports training for individuals with intellectual disabilities such as down syndrome.

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

Resources:
http://www.answers.com/topic/down-syndrome-diagnosis
http://kidshealth.org/parent/medical/genetic/down_syndrome.html
http://www.charliebrewersworld.com/page4.htm
http://en.wikipedia.org/wiki/Down_syndrome

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Some Health Quaries & Answers

POT BELLY:-

Q: I have skinny arms and an ugly pot belly. I wish to increase the size of my arms and reduce my stomach.

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A: First you need to attain your ideal body weight. Divide your weight by your height in metre squared and see if it is 25. If it is more you need to lose weight. This can be done by a combination of diet and exercise. You also need about 40 minutes of aerobic exercise like running, jogging and walking everyday. This has to be combined with anaerobic weight training and abdominal crunches. Also, if you have a desk job try to maintain proper posture while sitting. Pull in your stomach and hold it in several times a day. It is not possible to reduce your pot belly alone.

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THROAT PAIN:-

Q:
My father had fever and throat pain. He was diagnosed with diphtheria and admitted him in the ICU. Later we learnt that adults don’t get diphtheria.
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A: Diphtheria is rare today because of the routine immunisation of all children with the “triple” vaccine DPT which protects against diphtheria, tetanus and pertussis (whooping cough). Immunity has to be reinforced with booster doses until the age of 16 years. Immunity tends to fall over time. This makes older individuals susceptible to infection. Diphtheria can produce heart (myocarditis) and nerve (paralysis) complications. Maybe that is why your father was admitted into the ICU.

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BLEEDING DURING PREGNANCY

Q: My sister had bleeding during pregnancy. The doctor diagnosed placenta previa (I don’t know what that is) and did a caesarean section. The baby is premature and very sick. What is this? Will it recur in her next pregnancy?

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A: Placenta previa occurs when the placenta fixes itself near the outlet of the uterus. It occurs once in 200 pregnancies. The bleeding is painless, and can be mild or profuse enough to endanger the life of the mother and the baby. It is diagnosed by an ultrasound scan. Treatment can be bed rest in mild cases or immediate caesarean in severe cases. I think in your sister’s case the doctors had no choice. Premature babies have a lot of complications, most of which can be tackled by a competent neonatologist.

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Fortunately placenta previa is not a recurrent condition.

PARALYSED DAD :

Q: My father had a stroke and his left arm and leg are paralysed. I have been advised to take him for physiotherapy, but how is that going to help?

A: Paralysed muscles become stiff and inflexible. This makes changing the position of the limb difficult. The bones and joints may get pulled out of alignment. Walking and balance become difficult. If he remains immobile bed sores may develop.

It is possible to retrain muscles and brain circuits. Muscle strength, power and flexibility will all improve with consistent physiotherapy. It is worth making the effort and taking your father for treatment.

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DARK PATCHES:

Q: I have dark itchy patches under my breasts, in my arm pits and the thigh creases. They are very ugly.
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A: These patches are called intertrigo. They occur when there is a reaction between sebum, sweat, detergents and moisture. There may be a secondary bacterial or fungal infection.

You need to bathe twice a day and dry the area well with a soft towel. Check with a dermatologist about the type of infection (if any) which may have occurred. Applying the specific antibacterial or antifungal cream or dusting powder will help.

TREATING BED SORES :-

Q: My grandfather is bedridden and has developed a bed sore. What should we do?
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A: Bed sores can develop in anyone who is bedridden and unable to change his or her position. Prolonged sitting or lying in one position compromises blood supply to the skin and soft tissue of the area. Bedsores can develop quickly, progress rapidly and be difficult to treat.

Small sores may heal on their own if cleaned appropriately. Deep sores need surgical cleaning, dressings and, sometimes, surgical closure with skin grafts.

It is important to try and prevent sores from developing and spreading by changing the person’s position often.

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I HAVE TO AVOID MILK

Q: I used to drink a glass of milk in the morning and in the evening. I had stomach cramps, bloating and terrible gas. Recently, after a naturopath told me to avoid milk and milk products there was a vast improvement. I need my tea in the morning though. How can I live without milk? I am 35 years old.
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A: The naturopath has accurately deduced that you have lactose intolerance. His advice to avoid milk is right and you have improved. At your age a tablet containing 1gm of calcium and three eggs a week will probably replace the nutrition you used to get from milk. You can drink black or green tea without milk.

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Sources: The Telegraph (Kolkata, India)

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