Dopplersonographische Blutflußmessung der A. umbilicalis: Ist ein Screening sinnvoll?

251 Einlingsgraviditaten mit gesichertem Gestationsalter wurden zwischen der 28. und 42. Woche p.m. dopplersonographisch untersucht. Die Flusmuster der Nabelarterien wurden durch Bestimmung der A/B-Ratio nach Stuart anhand einer eigenen Normkurve ausgewertet. Als pathologisch wurden Werte oberhalb der gestationsalterbezogenen 95. Percentile angenommen. Die Messungen wurden mit einem gepulsten Dopplersonographiegerat der FA SMS durchschnittlich 2 Wochen antepartal durchgefuhrt.

Dopplersonographische Blutflußmessung der A. umbilicalis: Ist ein Screening sinnvoll?

The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells?

Pancreatic tissue obtained at subtotal pancreatectomy from 15 infants with persistent hypoglycaemia with hyperinsulinism, and autopsy specimens from 23 age-matched normoglycaemic controls, were studied with morphometric methods after immunocytochemical staining of the four main islet cell types (A, B, D and pancreatic polypeptide cells). In three cases, a focal lesion was detected by gross examination. Macroscopic or microscopic examination did not distinguish the 12 other cases from controls. As found previously, nesidioblastosis was not a specific feature of the pancreas in infantile hypoglycaemia, being observed in age-matched controls as well. In cases with hypoglycaemia the volume dens…

Neuronal intestinal dysplasia

Findings in 23 children with neuronal intestinal dysplasia (NID) are presented. Twelve children had Hirschsprung's disease that masked the existence of proximal NID. In all cases the diagnosis was established by histological-histochemical examination. Amelioration of symptoms by conservative treatment alone was achieved in 4 children; in 13 cases colostomy was necessary. In 6 patients colon resection was performed: 2 suffered from both colitis and obstruction; the other 4 were treated for obstruction, multiple perforations, persistant adynamia of the left colon, and fistulation. In 9 patients the colostomy was closed. Four of 6 children who did not have sonographic confirmation of motility …

Virus and Experimental Diabetes

Special subtypes of viruses belonging to different virus families are known to be able to induce insulin-deficient diabetes or pathological glucose tolerance in experimental animals (Table 1). The development of the diabetogenic effect of viruses is dependent on the species (Table 1) and, within one species, dependent on age and sex (Friedman et al., 1972), particularly on the genetic factors of the animals determining susceptibility or resistance to diabetes (Craighead and Higgins, 1974; Yoon and Notkins, 1976).

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease

BACKGROUNDHirschsprung disease (HSCR) is a frequent congenital disorder with an incidence of 1 in 5000 live births, characterised by the absence of parasympathetic intramural ganglion cells in the hindgut resulting in intestinal obstruction in neonates and severe constipation in infants and adults. Intestinal neuronal dysplasia (IND) shares clinical features with HSCR but the submucosal parasympathetic plexus is affected. IND has been proposed as one of the most frequent causes of chronic constipation and is often associated with HSCR.METHODSWe examined 29 patients diagnosed with sporadic HSCR, 20 patients with IND, and 12 patients with mixed HSCR/IND for mutations in the coding regions of …

Bilateral agenesis/aplasia of the lungs: report of a second case in the offspring of one woman.

Congenital absence of both lungs is an extremely rare malformation in humans and is thought to occur sporadically. We report the second case of congenital absence of both lungs in the offspring of one woman. In neither case, one female baby (born at term) and one aborted female fetus (21 weeks of gestation), were anomalies or malformations of other organ systems observed. The karyotype of the aborted fetus was 46,XX. To our knowledge, this is the first report describing bilateral pulmonary agenesis in two offspring of one mother. The repetition of virtually the same isolated abnormality with no other malformations supports the hypothesis that it could be caused by a genetic disorder. Other …

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p

We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by Gillessen-Kaesbach et al. [1993: Am J Med Genet 45:511–518]. Both propositi had polycystic kidneys and hepatic fibrosis indistinguishable from that seen in autosomal recessive polycystic kidney disease (ARPKD), and skeletal and facial anomalies. Skeletal abnormalities included “butterfly” vertebrae, square shape of pelvis, and brachymelia. The facial anomalies included hypertelorism, epicanthic folds, and anteverted nares. Additional external findings were apparently low-set ears and a short neck. Histopathological examination of the kidney…