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Absence of a Few Genes Can Bring Great Changes

July 17, 2008

DEAR DR. DONOHUE: Our grandson, 7 years old, has a disorder called VCF. It’s a genetic condition. Neither his father (our son) nor his mother has it. How can this be genetic when neither parent has it? He has trouble keeping up with the other children in school, and his speech is hard to understand. Please provide information. His parents don’t know where to turn. – L.I.

ANSWER: Humans have 23 pairs of chromosomes, long strands to which all our genes are attached. Chromosomes are like necklaces, and genes are their beads. In VCF, a small piece of chromosome 22 is missing, as are the genes that are attached to that piece. Only 10 percent to 15 percent of children with VCF inherit this condition from their parents. The rest lose the chromosome piece during embryonic life. It’s genetic in that is has to do with genes, not necessarily heredity.

VCF is velocardiofacial syndrome. “Velum” refers to the palate. It might be cleft (having a split in the middle) or have other changes that give rise to speech impediments. “Cardio” is “heart,” which can have congenital defects, like a hole in the partition between its right and left sides. “Facial” refers to facial changes. Most VCF children have long, narrow faces with ears a bit lower in position than normal. VCF has a list of more than 150 different signs, but an affected child has only a number of them, not all 150. Difficulty in learning is common. Some have faulty parathyroid glands, the glands that regulate the blood calcium level. The range of signs is great.

Your son and daughter-in-law can turn to the VCF Syndrome Educational Foundation for support, information and practical advice on raising a VCF child. The foundation is sponsoring an international meeting, to be held for two days in Troy, Mich., and the general public is invited. It begins July 18. The foundation can be reached at its toll-free number, 866-823-7335, or on the Web at vcfsef.org.

DEAR DR. DONOHUE: Over a year ago, I was diagnosed with a pancreatic cyst. I was sent to a specialist, who did an EUS with drainage of the cyst. I was told it was benign but might be precancerous. My primary doctor said he could watch it. Recently I had an ultrasound, and the cyst has not changed. Please give me your opinion. – T.W.

ANSWER: “EUS” is “endoscopic ultrasonography.” An endoscope is a telescopelike tube that reaches the pancreas guided by ultrasound. It is equipped with a fine needle that can drain cysts and obtain material for microscopic examination — a biopsy.

About 10 percent of pancreatic cysts turn out to be cancerous or have a potential to evolve into cancer. With the microscopic examination of cyst fluid and material obtained with the needle, your cyst was not cancer, but it apparently falls into the variety that has the potential to become cancerous and that potential must be a low one, otherwise the doctor would have taken direct action for its removal. The route chosen for you is a safe one.

DEAR DR. DONOHUE: Your answer to K.P. about the leg blood clot and the use of Coumadin did not mention the importance of exercise. I think you should have. Right? My charge is $10. – A.L.

ANSWER: Exercise is important in preventing leg vein blood clots and in their treatment. In the acute stages of a clot, anticoagulation is begun and limited, but not excessive, exercise is started.

Your check is in the mail.

DEAR DR. DONOHUE: I’ve been told that sleep apnea can cause a heart attack. Is that true? If it can, how many deaths a year are related to it? – D.S.

ANSWER: Sleep apnea features 10-second or longer breathing pauses during sleep. The pauses are often preceded by increasingly loud snoring.

Sleep apnea can contribute to a heart attack. It often raises blood pressure, which, in turn, raises the risk for a heart attack and stroke.

I cannot find any statistics that give the number of deaths due to sleep apnea. My guess is that the death certificate would list heart attack as the primary cause of death and might mention sleep apnea as a contributing cause.

DEAR DR. DONOHUE: In a recent column, spironolactone was said to help older women with acne because it blunts the effect of male hormones on oil glands. My husband took this medicine and developed gynecomastia (growth of the male breast). I understand this is not an infrequent side effect for male users of it. Do women on this drug need to fear a change in breast tissue or breast cancer? – M.C.

ANSWER: Spironolactone has many uses. It was originally sold as a diuretic – a water pill. It blocks the action of an adrenal gland hormone that makes the body hold on to salt and water. It’s a blood pressure medicine too. It’s used frequently for congestive heart failure. Because it lessens the effect of male hormones (women do make them), it also lessens acne in women who produce too much male hormone. It has no effect on female hormones. Therefore, it has no effect on the female breast or breast cancer. Breast tissue grows in some male users because of its effect on male hormones. Female hormones go unopposed by male hormones. Men do make female hormones.

Dr. Donohue regrets that he is unable to answer individual letters, but he will incorporate them in his column whenever possible. Readers may write him or request an order form of available health newsletters at P.O. Box 536475, Orlando, FL 32853- 6475. Readers may also order health newsletters from www.rbmamall.com

(c) 2008 Sun-Journal Lewiston, Me.. Provided by ProQuest Information and Learning. All rights Reserved.




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