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Biomedical subjects

I Rocker

Publications and source records attributed to I Rocker.

8 recordsLinked to original sources

Antenatal diagnosis of Duchenne muscular dystrophy.

As a means of assessing the value of fetal serum-creatine-kinase (S.C.K.) levels in the antenatal diagnosis of Duchenne muscular dystrophy (D.M.D.), fetal muscle from control and at-risk fetuses was studied histologically and the findings were related to fetal S.C.K. levels. Of 7 at-risk fetuses 4 were believed to have normal muscle and all these had normal S.C.K. levels. However, of 3 fetuses with abnormal muscle only 1 had a raised S.C.K. level. At present caution should be exercised in offering antenatal diagnosis in D.M.D. on the basis of fetal S.C.K. levels.

Creatine Kinase

Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy.

Successful fetoscopy using a 9 mm laparoscope was carried out on an 18-week pregnancy of a healthy woman who had had two previous male infants with bilateral double big toes, bilateral ulnar supernumerary digits associated with short segment Hirschsprung's disease, and ventricular septal defect of the heart, a syndrome apparently not previously described. The fetus was found to be normal, but an amniotic membrane defect was detected, which accounted for amniotic fluid leakage from 24 weeks up to delivery by caesaren section of a normal male infant at 35 weeks. The possible genetic basis and recurrence risk, put at probably one in four for this syndrome, is discussed. The indications for fetoscopy are set out and a fundal approach at laparotomy after placental localization is recommended for the procedure.

Endoscopy