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Biomedical subjects

E Schaefer

Publications and source records attributed to E Schaefer.

47 records · Page 3Linked to original sources
PubMed1980

Mesomelic dysplasia with short ulna, long fibula, brachymetacarpy, and micrognathia. Clinical and radiological differential diagnostic features.

A girl with a "new" variant of mesomelic dysplasia is reported. The disorder is characterized by mesomelic brachymely, especially of the arms, a short ulna, relatively long fibula, brachymetacarpy, minor symmetrical changes at the hands, developmental arrest of the spine, contractures, and micrognathia. The clinical and radiological differential diagnostic features are discussed.

Bone Diseases, Developmental↗
PubMed1980

[Intussusception in the newborn (author's transl)].

A five day old male neonate had bloody stools and decreasing appetite. He was subjected to laparotomy after x-ray investigations had shown an intussusception. This was due to a cystic duplication of the ileum just before the ileocecal valve. After an ileocecal resection the postoperative course was uneventful. Special problems of the intussusception in the newborn are discussed.

Humans↗
PubMed1978

[Neonatal small left colon syndrome (author's transl)].

The article reports on the newborn of a diabetic mother. Intestinal obstruction (subileus) occurred in the infant as a result of a neonatal small left colon syndrome. Diagnosis was established by radiological examination. Contrast enema with Gastrografin resulted in a permanent curative effect. Follow-up studies showed normalisation of the colonic lumen demonstrating the functional character of the disturbance. The etiology of the syndrome has not yet been clarified. It appears to be of differential diagnostic importance to make a clear distinction between this syndrome and Hirschsprung's disease (congenital megacolon) in newborn, because this involves a different therapy.

Adult↗
PubMedDate not supplied

[Clinical importance of hepatitis B virus DNA detection in serum of children with chronic hepatitis B].

206 sera from 172 children with chronic hepatitis B infection were tested for HBV DNA by dot blot hybridization. 111 were positive and 95 negative for HBV DNA. 103 (78.6%) of the positive patients had HBeAg and 5 (7.7%) anti-HBe. In 60 (92.3%) of the anti-HBe positive sera no HBV DNA could be detected. Children with elevated liver enzymes had HBV DNA in 80.1%, whereas in 71.6% of the chronic HBsAg carriers with normal liver enzymes no HBV DNA was found. In 87 of the 95 dot blot negative patients polymerase chain reaction was performed. 73 (83.9%) children of this group were HBV DNA positive. All HBeAg positive patients and those with elevated aminotransferases had HBV DNA in their serum. 56 anti-HBe-positive HBsAg carriers were also positive; 14 were negative for HBV DNA. Our results demonstrate that viral sequences can be found in all HBeAg positive and in most of the anti-HBe positive children. Patients with ongoing virus replication have to be considered infectious and recommendation for vaccination of close relatives of these patients must be stressed.

Adolescent↗
PubMedDate not supplied

[Congenital contractural arachnodactyly (CCA syndrome)--an autosomal dominant hereditary connective tissue disease].

Congenital contractural arachnodactyly (CCA syndrome) is an autosomal dominant connective tissue disease which must be distinguished in particular from Marfans' syndrome and the heterogeneous arthrogryposis multiplex congenita. The principal symptoms are multiple congenital contractures with a quite pronounced tendency to regression, scoliosis, dolichostenomelia and arachnodactyly, and malformation of the auricles. The authors report on a young woman (the proposita) and her son, who are typically affected. Observation of the course in these two patients confirms the rule that the condition has a relatively favorable prognosis. The mother of the proposita suffered from dolichostenomelia and arachnodactyly, while congenital contractures and dysmorphous auricles were absent; this could represent a--still hypothetical--mild form of the syndrome. The symptomatology, differential diagnosis, treatment and genetics of the CCA syndrome are discussed in detail with reference to a further 33 cases in the literature.

Adult↗