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Biomedical subjects

R A Pfeiffer

Publications and source records attributed to R A Pfeiffer.

At least 163 records · Page 9Linked to original sources
PubMed1976

[The phenotype of the trisomy of the short arm of chromosome no. 4. (a new case with t (4p; 11q) (author's transl)].

Report on a 5 year old girl with the caracteristic features of the partial trisomy of the short arm of a chromosome no.4: short stature, microcephaly, hydrocephaly, enophthalmus, bulbous nose, deep set malformed ears, hypertrichosis, brachydactyly, hypoplastic ribs, abnormal EEG, imbecility. Trisomy originated from a reciprocal translocation in the father (46, XY, rcp (4;11) (p 13; q23)). q23)).

Abnormalities, Multiple↗
PubMed1975

Subacute necrotizing encephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant.

Subacute necrotizing encephalomyelopathy (SNE) has been observed in an infant with regressing psychomotor development. The concentrations of alanine, pyruvate and lactate were increased in the serum and blood as well as in the cerebrospinal fluid. Pyruvate carboxylase activity was reduced in the liver tissue. An inhibitor of thiamine-pyrophosphate-ATP-phosphotransferase was present in the urine. Thiamine treatment was followed by a decrease of serum alanine and blood pyruvate and lactate, but there was no clinical improvement during a period of 17 months. Ultrastructural investigations revealed high glycogen levels in liver tissue and skeletal muscle. These findings contrast with decreased gluconeogenesis, which is suggested by the diminished pyruvate carboxylase activity. Therefore it is concluded that reduced hepatic pyruvate carboxylase activity is not the primary cause of SNE.

Alanine↗
PubMed1975

[Observations on the Prune-Belly syndrome].

5 Male children exhibiting the typical features of the Prune-Belly syndrome (malformations of the urogenital tract, aplasia of abdominal muscles) are described. Two of these are deaf. This syndrome has also been observed in a few females. Final interpretation of the cause and pathogenesis cannot yet be given. In two siblings with defects of the abdominal muscles an contractures of the joints, but without renal anomalies, a new and hitherto undescribed hereditary syndrome seems to be present.

Abdominal Muscles↗
PubMed1975

[Is there a syndrome of Ullrich and Feichtiger?(Author's transl)].

Report on two siblings having died during the first days of life who exhibited a syndrome of polydactyly, renal aplasia and inter-sexual genitalia, and in one child an additional cleft palate and coarctation of the aorta with VSD. It shares several features with the syndrome of Smith-Lemli and Opitz. The syndrome of Ullrich and Feichtiger which had been taken into consideration earlier sould be rejected as a clinical and etiological entity.

Abnormalities, Multiple↗