De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies.

De novo structural chromosomal imbalances represent a major challenge in modern cytogenetic diagnostics. Based solely on conventional cytogenetic techniques it may be impossible to identify the chromosomal origin of additional chromosomal material. In these cases molecular cytogenetic investigations including multicolor-FISH (M-FISH), spectral karyotyping (SKY), multicolor banding (MCB) and cenM-FISH combined with appropriate single-locus FISH probes are highly suitable for the determination of the chromosomal origin and fine characterization of derivative chromosomes. Here we report on four patients with de novo chromosomal imbalances and distinct chromosomal phenotypes, three of them harboring pure partial trisomies: a mildly affected boy with pure partial trisomy 10q22.2-->q22.3 approximately 23.1 due to an interstitial duplication, a girl with pure trisomy 12p11.21-->pter and atypically moderate phenotype as the consequence of an X;autosome translocation, and a girl with multiple congenital abnormalities and severe developmental delay and a 46,XX,15p+ karyotype hiding a trisomy 17pter-->17q11.1. The fourth patient is a girl with minor phenotypic features and mental retardation with an inverted duplication 18q10-->p11.31 combined with a terminal deletion of 18p32. The clinical pictures are compared with previously described patients with focus on long term outcome.

Abundant minute myotubes in a patient who later developed centronuclear myopathy.

Centronuclear myopathy (CNM) is a congenital myopathy which manifests itself as a severe neonatal (also termed myotubular myopathy), early-onset, or adult form. The histological pattern of each is marked by a considerable number of nuclei of muscle fibers being internally placed. Owing to their remote resemblance to myotubes, and their expression of developmentally regulated proteins, most authors now favor the concept that myogenesis is arrested or delayed in this disease. We here present two muscle biopsy specimens of a patient with early-onset CNM, taken at the age of 5 months and 14 years, respectively. The first biopsy sample contained internally placed nuclei in 7% of the muscle fibers, abundant minute myotubes, and hypertrophic muscle fibers. The second biopsy sample showed internally placed nuclei in 40% of the muscle fibers, and hypotrophic fibers. We suggest that the histological findings in early-onset CNM are the result of a complex dynamic process, which includes a delay in maturation.

Analysis of missing medication episodes in a unit dose system.

The unit dose drug distribution system at The Buffalo General Hospital in Buffalo, New York, was evaluated by an analysis of cases in which doses of medication were missing from the unit dose administration cart. When a dose was missing, the medication administration nurse reported the occurrence to the pharmacy. When time permitted, the cause of the missing dose was determined and recorded. Thirty causes for missing doses are cited. The causes were found to arise from misuse of the unit dose system by nurses, misunderstandings between the Nursery and Pharmacy Departments, or from oversights on the part of nurses or pharmacy personnel. Missing doses can be prevented in the future by instructing nurses in the use of the system, improving communication between the Departments of Pharmacy and Nursing concerning the needs of the patients, and being aware of mistakes that can occur so care can be taken to prevent them in both departments.

[Results of intensive care and intensive therapy of very low birth-weight infants (author's transl)]. / Ergebnisse der Intensivüberwachung und Intensivtherapie bei Neugeborenen mit sehr niedrigem Geburtsgewicht.

Newborns of less than 1500 g birth-weight are thought to be especially at risk with regard to their psychomotor development. Among 71 such infants admitted to the University Childrens Clinic, Tübingen, in 1974-1975, 43 survived (38% mortality). All but two of them were followed serially and assessed for their psychomotor development. Five were found to be abnormal (12%), three of them most probably having sustained CNS damage prenatally.