Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.

This patient, in whom trisomy 12 mosaicism was confirmed in multiple organs, is the fifth case diagnosed postnatally and the first reported for whom a meiotic origin of the trisomy, maternal meiosis I, was determined. Mosaic aneuploidy was suspected because of pigmentary dysplasia, a frequent but non-specific finding in chromosomal mosaicism. The severe phenotype of this child, who died in infancy with a complex heart malformation, was probably a result of the high percentage of trisomic cells. Cytogenetic and interphase fluorescent in situ hybridization analyses showed a highly variable distribution of aneuploid cells in the nine tissues studied, from none in blood and ovary to 100% in spleen and liver. The trisomy arose meiotically with apparent post-zygotic loss of one of the chromosomes 12; uniparental disomy for this chromosome in the diploid cell line was excluded. The phenotype of the cases reported in living or liveborn individuals has been extremely variable, ranging from the present case, in which the child died in infancy with multiple malformations and pigmentary dysplasia, to a fortuitous finding in an adult studied for infertility. The variation in severity is probably determined by the proportion and distribution of the trisomic cells, which is linked to the timing of the non-disjunctional error.

Laboratory diagnosis of perinatal infections.

The application of new technology to the diagnosis of infectious disease in neonates has markedly increased the potential for early clinical intervention. Although far from perfect, the new tests have increased knowledge of the nature of these diseases and give physicians the opportunity to apply current treatments more effectively as well as to develop new modes of therapy for this important class of diseases.

Mucinous carcinoma of the breast: recurrence 30 years after mastectomy.

We have reported a case of mucinous breast carcinoma that recurred in the form of lung and lymph node metastases 30 years after definitive resection. This case emphasizes the indolent nature of this neoplasm and the need to lengthen the period of follow-up for patients with this form of cancer.

Respiratory muscle weakness and ventilatory failure in AL amyloidosis with muscular pseudohypertrophy.

Generalized muscle weakness culminating in ventilatory failure developed in a 59-year-old man with kappa light chain multiple myeloma. Physical examination demonstrated skeletal muscle enlargement, severe proximal muscle weakness, and macroglossia, consistent with amyloid-associated muscle pseudohypertrophy. Pulmonary function studies revealed a severe restrictive abnormality with a low maximal inspiratory pressure and maximal voluntary ventilation. Arterial blood gas values and chest radiographic results were normal. There was no clinical evidence of cardiac or central nervous system disease. At autopsy, skeletal muscles and diaphragm were diffusely infiltrated by amyloid. There was also multifocal deposition of amyloid in alveolar septae, esophagus, and subendocardium. This report suggests that ventilatory failure may occur as a complication of myeloma-associated (AL) amyloidosis involving the respiratory muscles.

Structural analysis of the matrix protein from the nuclear polyhedrosis virus of Heliothis zea.

Polyhedrin from the nuclear polyhedrosis virus of Heliothis zea was analyzed. Alkali-solubilized polyhedrin consists of a 12 S aggregate of 27,000 MW subunits. Results from chemical crosslinking experiments suggest that 12 subunits are present in the 12 S aggregate. In isoelectric focusing gels, the aggregate migrates as a single entity with an isoelectric point of 5.9. Under denaturing conditions, four charge isomers of the subunits are revealed. The presence of alkaline protease activity in the Heliothis virus is confirmed.

Structural studies on the polyhedral inclusion bodies, virions, and DNA of the nuclear polyhedrosis virus of the cotton bollworm Heliothis zea.

The polyhedral inclusion body of the cotton bollworm nuclear polyhedrosis virus contains virions occluded in an orthogonal crystalline matrix. The virions appear as rods or, more frequently, as oval structures that form upon bending of the nucleocapsid within the viral membrane. The nucleocapsid consists at least of DNA surrounded by a capsid composed of subunits, possibly helically arranged. The viral DNA is circular and supercoiled. It is heterogenous in size with contour lengths ranging from 15 to 45 mum.