Trisomy, ugly nails and sedation:-
Self medication can be harmful, consult a doctor when your child is sick.
Q: My son has been diagnosed as suffering from trisomy 18. In a recent article, you said Down Syndrome was trisomy 21. Are the two different?
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A: Chromosome 18, like chromosome 21, is prone to deletions, breakages and trisomy during early cell division. Trisomy is the presence of three copies of a chromosome rather than the normal two. The deleted part of the chromosome may disappear or attach itself elsewhere forming another extra long chromosome or a ring. Aberrations in this chromosome arise sporadically de novo and have not been associated with any paternal or maternal factor. The syndrome is marked mainly by mental retardation, midface hypoplasia (the area around the nose and cheeks is developmentally smaller than normal), deeply set eyes, carp mouth, mild obesity, ataxia (unsteady, lurching gait), hypotonia (floppiness marked by poor muscle tone), malformed ears, and hyperactive and aggressive behaviour.
Trisomy 18 occurs in one in 3,000 births. About 50 per cent of those diagnosed prenatally die in utero. Less than 10 per cent of the others reach their first birthday. If, however, all the cells are not abnormal and the person is a mosaic â€” that is, with a mixture of abnormal and normal cells, the chances of survival are greater.
Ultrasound scanning during pregnancy can pick up the anomalies like cleft lip, small head, webbed fingers and toes. This leads to a suspicion of an abnormal baby. Trisomy can be confirmed by amniocentesis. Decisions about whether to continue the pregnancy or terminate it can then be made.
Q: My son does not have his testes in his scrotum. Is this Down Syndrome?
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A: This is not Down Syndrome, but cryptorchidism, a condition where one or both testes are absent from the scrotum. It occurs in 3 per cent of full-term and 30 per cent of premature infant boys. Testes are formed in the abdomen and have to descend to the scrotum. This process may be halted anywhere along the line of descent. Sometimes the testes are not truly undescended but eretractile that is, they move up and down into the groin area and back spontaneously.
If the testes are undescended, they have to be brought down to the scrotum and fixed surgically. Leaving them in the abdomen makes them non-functional and can lead to sterility. They may get twisted leading to unexplained abdominal pain and shock. Also, they may eventually turn cancerous.
Genital warts :-
Q: I have warts near my vagina. They do not pain but itch. The allopath said I should ignore them, while the homeopath gave me some medications which haven’t helped.
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A: Genital warts is a sexually transmitted disease caused by a virus. It is important that they be treated, as they are one of the agents implicated in the development of cervical cancer. Trials are underway to introduce a vaccine to prevent the infection. Once warts have developed, both you and your partner need treatment. Treatment is not uniformly effective. The rate of recurrence is high. Patient-applied treatments are sufficient for uncomplicated external lesions. Topical gels and creams such as podophyllum, trichloroacetic acid, and imiquimod are 30-80 per cent effective in reducing the wart size. Repeated applications may be needed.
Other treatment options are cryotherapy (freezing), excision with scissors, shaving or curetting, cauterisation or laser therapy. Consult a dermatologist.
Pitted nails :-
Q: My nails are ugly as the skin over them is white and itchy. The nails also have holes in them. I went to the beauty parlour but it only worsened the condition.
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A: Scaly, itchy skin and pitted nails are caused by psoriasis. Normally, it is got from other family members with psoriasis. The disease is chronic with improvements and relapses. Treatment is long drawn out and best done in consultation with a dermatologist. Beauty parlours and nail polish are not the answer.
Q: My uncle is very old and since his children don’t really like to look after him, they keep him sedated all day. Is this safe?
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A: Sedatives are Schedule H drugs which should be dispensed only with a doctor’s prescription. If you are buying the drugs without a prescription and dosing the person yourself, you run a risk of administering an overdose. Also, the elderly have medical problems. If your uncle is already on anti-hypertensive or diabetic medications, you have to know the drug interactions of medications you decide to add on.
Sedation may cause the person to become confused, dizzy and disoriented. This can lead to falls, especially in the toilet. Broken bones or injuries will only compound the problem.
Q: My daughter, aged two-and-a-half years, frequently suffers from cough and cold. Visits to many doctors proved unfruitful until one paediatrician prescribed amoxycillin. I have been giving it to her every time she has fever. But now the fever has stopped responding to it and her mouth is red and sore with white curd-like formations.
A: Amoxycillin is an antibiotic which needs to be given in a particular dose (depending on the body weight) for a particular period of time. Randomly administering it will not reduce fever or tackle the infection. Repeated antibiotic use in your child’s case has resulted in avitaminosis (lack of vitamins) and a sore mouth on which there is probably an overgrowth of fungus. You need to consult a paediatrician for these multiple problems and also every time the child is sick. Please do not self medicate.
Source:The Telegraph (Kolkata,India)