Heminasal aplasia: a case report and review of the literature of the last 25 years.

We report a child with right-sided heminasal aplasia in combination with anomalies of the right eye and maxilla. Unilateral aplasia of the nose is a rare congenital malformation. It is often associated with other malformations of the facial region, including abnormalities of the eye and lacrimal system, proboscis lateralis, and facial bone malformations.

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.

Alagille syndrome (AGS) or arteriohepatic dysplasia is a rare but well-defined clinical entity that is usually inherited as an autosomal dominant trait. A limited number of patients carry a deletion in chromosome 20p, with 20p11.23-p12.

[Intrauterine invagination in a newborn infant].

Intussusception in neonates is rare. We present a case of neonatal intrauterine intussusception, which was treated by partial colectomy. Differences between neonatal and infantile intussusception are detailed.

[Problems of differential diagnosis in children with acute leukemia].

In most cases, a diagnosis of acute leukemia is easily made. Some less frequently occurring signs and symptoms in children with acute leukemia are discussed, as well as some possibilities in the differential diagnosis.

Repair of damage in double-stranded phi X174 (RF) DNA due to radiation-induced water radicals.

Experiments in which the yields of radiation-induced OH and H radicals were varied, showed that both types of water radicals inactivate phi X174 RF DNA to about the same extent as measured by transfection of the (irradiated) DNA to E. coli wild-type spheroplasts. On the other hand, using spheroplasts prepared from E.

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.

A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities of gonadotrophin and glycerol kinase.

Inactivation of biologically active DNA by isopropanol and formate radicals.

If OH and H radicals, produced by absorption of ionizing radiation in aqueous solutions, are scavenged with isopropanol or sodium formate, secondary radicals are formed which can inactivate phi X174 DNA. From experiments at various DNA concentrations and dose rates we were able to determine the rate constant and the inactivation efficiency of the reaction of these organic radicals with single stranded DNA.