Biomedical subjects
Publications and source records attributed to K Benirschke.
Karyotype analysis of a premature human acardiac twin disclosed normal chromosomes. A review of previous cytogenetic, placental and animal studies suggests that chromosomal errors are not the cause of the acardiac anomaly. Rather, they point to the placental vascular anastomoses as the principal pathogenetic event.
Two unrelated infants with congenital skin defects (aplasia cutis congenita) involving the trunk and limbs, each with an associated monozygotic twin fetus papyraceus, are described. Evidence from these two cases and a review of the literature indicate that congenital skin defects of other body areas, as represented by these two children, is a specific pattern of malformation distinct from isolated small congenital skin defects involving the vertex of the scalp. The frequent occurrence of fetus papyraceus in patients with congenital skin defects of other body areas suggests a common etiology for these two phenomena.
The nature and rate of neoplasia found at necropsy of captive wild animals of the Zoological Society of San Diego collection were studied. Neoplasia was present at necropsy in 2.75% of 3,127 mammals, 1.89% of 5,957 birds, and 2.19% of 1,233 reptiles. Neoplasms were not detected during 198 necropsies of amphibians. Gross and histologic examinations were performed on the 92 mammalian, 111 avian, and 28 reptilian neoplasms. The lesions were diagnosed. The findings findings included a high frequency of lymphosarcomas in birds and reptiles, multiple lung adenomas in mammals, multiple endocrine tumors in 2 European mouflons (Ovis musimon), and proliferative lesions of the biliary and pancreatic ductal systems in several species.
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The karyotype of Pan paniscus is reexamined by G-banding and examined for the first time by C-banding. In addition, examination of the chromosomes by the use of the fluorochromes adreamycine and 33258 Hoechst is undertaken. C-banding showed a surprising pattern with numerous terminal C-bands, as interstitial C-band, and several chromosomes lacking C-bands. Polymorphic conditions for C-bands are also identified involving several pairs. In a comparison to the chromosomes of man, G-banding revealed two pericentric inversions not previously observed. Only chromosome pairs No. 9,11,12 and the X are similar to man's by all techniques employed.
A polymorphic condition for the Q-band intense region of chromosome number 22 is identified in the pygmy chimpanzee (Pan paniscus). This polymorphism allows us to trace the pattern of inheritance of a number 22 chromosome in a family of pygmy chimpanzees. Previous Q-band findings are verified.
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Disseminated herpes simplex virus type 2 was unexpectedly discovered in a baby delivered by primary cesarean section at 36 weeks' gestation prior to rupture of the membranes. The mother was free of orogenital lesions at each prenatal examination. Examination of the placenta revealed chorioamnionitis implicating an ascending infection from the mother's infected genital tract.
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The association of ovarian hypoplasia with trisomy 18 in 6 infants and trisomy 13 in 5 infants and 1 fetus is reported. Three infants also had thymic hypoplasia. The possible etiology of ovarian dysgenesis is discussed in relation to a variety of clinical and experimental associations.
Evidenc of first-trimester fetal syphilis was sought in the products of conception in a therapeutic abortion clinic. During two collection periods of one week, five patients with serologic and clinical data consistent with recent syphilitic infection were identified. Their conceptuses were carefully examined by silver and immunofluorescent stains for the presence of Treponema pallidum. Two of these five conceptuses (9 and 10 weeks' gestation) were found to contain T. pallidum by these methods. The literature supporting the Langhans layer/five months' placental barrier theory is reviewed and discussed in view of these two first-trimester cases.
Vacuolar cytoplasm in placental cells was observed in four cases. In each instance the baby was either stillborn or died soon after birth. One infant was shown to have Inclusion cell disease (Mucolipidosis II), whereas in the other cases biochemical studies were noncontributory or could not be carried out. The histologic changes of the placenta described in this report were restricted to the fetal elements and also included the X cells, providing further evidence that these cells are of fetal rather than maternal origin.
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Two new specimens of Calicebus torquatus confirm the previously reported unusually low diploid number of 2n = 20. Banding studies and radioautography identify the X chromosome and compare the karyotype with that of Callicebus moloch cupreus. The latter species has considerably less C-banded heterochromatin. A comparison of Giemsa bands establishes only few comparable chromosome segments.
An accidental mating between a male eland and a female kudu produced an animal with primarily eland phenotypic characteristics. Despite pronounced male behaviour the animal was azoospermic. Histological examination of the testis showed complete lack of germ cells. Chromosome studies with analysis of Giemsa bands showed that the parental karyotypes differed by two reciprocal translocations and one pericentric inversion, involving chromosomes 1 and 3, 5 and 11, and 9 respectively. All other chromosomes had identical banding patterns.
Well-documented amniotic fluid embolism with survival is an uncommon occurrence. A case is reported with characteristic clinical findings in addition to electrocardiographic evidence of acute right heart strain, disseminated intravascular coagulation, and amniotic fluid debris in central venous blood. The impact of this complication on maternal mortality is emphasized. Aggressive therapy with attention to the basic principles of supportive care offers the best chance of survival.
This report describes premature monozygotic twins, 1 of whom had an unusual clinical manifestation of a rare congenital anomaly, the other being normally developed. Hydramnios had been suspected during pregnancy and, because of the severity, amniocentesis was attempted. However, it became evident that the hugely distended abdomen did not indicate hydramnios, the pregnancy actually being complicated by oligohydramnios. Pulmonary hypoplasia was the cause of the immediate neonatal demise of 1 twin; the other expired after prolonged therapy for meconium aspiration. No similar cases have been reported in the literature which is reviewed briefly. Particular attention is given to discordant anomalies in monozygotic twins, the mode of their placentation, and the development of amnion nodosum.