Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes

Article Abstract:

Myotonic muscular dystrophy is a chronic genetic disease characterized by progressive muscle wasting and poor muscle relaxation after contractions. Women who carry the gene for the disorder may have few or no symptoms, but have a 50 percent risk of having a child with the disease. Men and women with myotonic muscular dystrophy have an equal chance of transmitting the condition, but the offspring of women tend to have more severe disease. Women who are at risk for the disease or for transmitting it are usually identified through their family medical history. A new alternative is afforded by DNA testing for the gene; these tests are becoming more precise and are generally between 96 and 99 percent accurate. One medical team has reported successful prenatal diagnosis of the disease. This report describes the results for five families who underwent prenatal testing. Prenatal diagnosis allowed improved patient management during early and late pregnancies, and obstetricians were able to anticipate the high risk of complications in pregnant patients or fetuses with the disease. (Consumer Summary produced by Reliance Medical Information, Inc.)

Diagnosis, Birth defects, Myotonic dystrophy

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Unilateral absence of the vas deferens; a useful clinical sign

Article Abstract:

The ductus deferens, also known as the vas deferens, is the excretory duct of the testis, which unites with the excretory duct of the seminal vesicle (containing semen) to form the ejaculatory duct. The vas deferens is usually not examined by the hand (felt) during a routine physical examination or during an examination of the scrotum, the pouch that contains the testes. The absence of the vas deferens, especially on only one side (unilaterally) has been associated with the absence (agenesis) or malformation of the kidney on the same side. Twenty-two out of 26 patients who were lacking a vas deferens were found to have an abnormal kidney on the corresponding (ipsilateral) side. Abnormalities of the opposite kidney (contralateral) were found in 33 percent of the 22 affected patients. Examination for the absence or malformation of a kidney is mandatory for any patient who lacks the vas deferens.

Medical examination, Reproductive organs, Male, Male genitalia, Scrotum

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Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis

Article Abstract:

Men with congenital bilateral absence of the vas deferens (CBAVD) who are otherwise healthy may have a form of the genetic disorder cystic fibrosis (CF) that only affects the genitals. Most males with CF have missing or incompletely formed vas deferens, or the secretory duct of the testicles, and do not produce living sperm. Genetic analysis of 25 men from 25 to 43 years old with CBAVD who were incapable of producing living sperm found that 16 (64%) had at least one mutation associated with CF. Three of the men with CF-associated mutations had two different mutations that may be associated with CF. One of these men had high levels of salts in his sweat, which is characteristic of CF patients. CBAVD may be caused by the production of abnormal secretions before birth that interfere with normal development of the vas deferens.

Cystic fibrosis

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