Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A preliminary study of nuclear magnetic resonance imaging of the brains of four normal children (36 weeks' postmenstrual age to 5 years) showed long T(1) areas in the periventricular region of the neonate as well as evidence of progressive myelinisation with increasing age. Study of 18 patients of 40 weeks' postmenstrual age to 4 years showed an apparent deficit in myelinisation in an infant with probable rubella embryopathy and another with ventricular dilatation of unknown cause. Abnormal scans were obtained in an infant with congenital muscular dystrophy, and abnormalities were visualised at the lateral ventricular margins in a case of acute hydrocephalus after shunt blockage. Periventricular regions of increased T(2) were seen in a term infant aged 4 days after severe birth asphyxia and convulsions.Nuclear magnetic resonance imaging appears to provide a unique demonstration of myelinisation in vivo and shows changes in pathological processes of importance in paediatric practice.
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PMID:Nuclear magnetic resonance imaging of the brain in children. 681 Sep 94

It has been known since 1959 that trisomy 21 is the cause of Down's syndrome, but its prenatal diagnosis was first reported in 1968. From about 1983, the diagnosis was accomplished before the 12th week of gestation through the introduction of the chorionic villus diagnosis. This resulted in intensive questioning of the ethical aspects of such a test, especially given that after finding evidence of a severe and incurable disease abortion could be performed without penalty before the 22nd week of pregnancy. Prenatal diagnosis has also become a means of saving lives. In a Munster prenatal program 90% of 92 pregnancies where German measles was diagnosed in the mother could be saved because it was shown that only 10% had fetal transmission. Similarly, Duchenne's muscular dystrophy can be diagnosed by the use of DNA technique. The number of abortions on account of fetal indications had decreased from 2348 in 1977 to 1071 in 1988 in the former West Germany, while the number of abortions for other severe hardship increased from 31,358 in 1977 to 72,705 in 1988. It is questionable whether this so-called social indication does not reflect an indifferent attitude to the unborn life in a country that is economically much better off than its neighbors. In German society there are two extreme positions: one reduces the right to life of the unborn child to a minimum, while the other represents an absolute ban on abortion, which is hard to hold up in the case of a severe, incurable disease of an unborn child. Women who already have a child with Down's syndrome who is integrated into the family still often request prenatal diagnosis in the event of another pregnancy. Physicians should not treat such a request condescendingly.
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PMID:[Pregnancy termination for so-called "fetal" indications]. 830 24