Adenocarcinoma of the proximal small intestine. A marker for familial and multicentric cancer?

BACKGROUND. Adenocarcinoma of the small intestine is uncommon. The Hawaii Tumor Registry (HTR) has identified 49 of these tumors since 1960, and the Japan-Hawaii Cancer Study (JHCS) has identified only four of these tumors among a cohort of 8006 Hawaiian-Japanese men followed up for a period of 22 years. Each of the four men reported by the JHCS had multicentric gastrointestinal cancers. METHODS. Newly diagnosed cancers are recorded separately by the HTR and JHCS, and linkage is maintained between the two files. Family histories are available from the JHCS, and these are supplemented by a state population file maintained by the Department of Genetics, University of Hawaii. RESULTS. Five men, all Japanese, were found to have carcinoma of the proximal small intestine. Each had multicentric carcinomas of the gastrointestinal tract. Carcinoma of the stomach and colon was found in the primary relatives of each of four men whose families lived in Hawaii. CONCLUSIONS. The familial clustering of uncommon neoplasms (small bowel carcinoma and multicentric large bowel carcinoma), and the concurrence of gastric and colonic carcinoma suggests that these subjects have a genetic trait that increases susceptibility to a broad range of carcinogens.     

Staged bilateral thalamic electrode implantation utilizing frameless stereotactic guidance.

Deep brain stimulation (DBS) for medically intractable Parkinson's disease (PD) is well established, but carries the inconveniences of frame-based neurosurgery. Previous reports have demonstrated that ventricular shunt placement and some functional procedures can be accurately performed using frameless stereotaxy. We present a report indicating that staged deep brain electrode placement can be accurate and efficacious using a frameless skull-mounted guide.     

The regions of sequence variation in caulimovirus gene VI

The sequence of gene VI from figwort mosaic virus (FMV) clone x4 was determined and compared with that previously published for FMV clone DxS. Both clones originated from the same virus isolation, but the virus used to clone DxS was propagated extensively in a host of a different family prior to cloning whereas that used to clone x4 was not. Differences in the amino acid sequence inferred from the DNA sequences occurred in two clusters. An N-terminal conserved region preceded two regions of variation separated by a central conserved region. Variation in cauliflower mosaic virus (CaMV) gene VI sequences, all of which were derived from virus isolates from hosts from one host family, was similar to that seen in the FMV comparison, though the extent of variation was less. Alignment of gene VI domains from FMV and CaMV revealed regions of amino acid sequence identical in both viruses within the conserved regions. The similarity in the pattern of conserved and variable domains of these two viruses suggests common host-interactive functions in caulimovirus gene VI homologues, and possibly an analogy between caulimoviruses and certain animal viruses in the influence of the host on sequence variability of viral genes.     

Digital radiography of subtle pulmonary abnormalities: an ROC study of the effect of pixel size on observer performance

Forty conventional radiographs with examples of mild interstitial infiltrates and subtle pneumothoraces and 40 normal studies of the chest were selected and digitized, with pixel sizes of 1.0, 0.5, 0.2, and 0.1 mm. Observer performance tests were carried out using receiver operating characteristic analysis. Conventional radiographs and digitized images were compared. The results indicate that, in such cases, diagnostic accuracy increases significantly as the pixel size is reduced, at least to the 0.1-mm level. We conclude that, for digital systems using screen-film or similar image receptors, use of a pixel size substantially larger than 0.1 mm may result in some loss of diagnostic accuracy.     

Emory University Project on Children of Disturbed Parents

Young children (from birth to 5 years of age) of schizophrenic, depressed, and well mothers were studied to assess their intellectual, social, and neuropsychiatric functioning. The sample derived from predominantly black, low-income, single-parent families. An extensive battery of laboratory and home-based tests was administered three times, each 1 year apart, to test the stability of findings. Schizophrenic offspring, as a group, had more problems than others. They showed more deficits on social competence, had lower IQ's (the youngest children only), and were overrepresented in the group of children with multiple negative indices. However, both schizophrenic offspring and depressive offspring sometimes performed more poorly than children with well mothers (presence of symptoms of psychiatric disorder and certain categories of social behavior). In certain instances, the children of depressed mothers were worse off than either other group (small for age and showing less social competence at home). Deficits were found in the child-rearing environment provided by the disturbed mothers. Both schizophrenic and depressed mothers were rated as less affectively involved and less responsive than well mothers. Schizophrenic mothers were rated as providing the poorest overall environment: less play stimulation, fewer learning experiences, and less emotional and verbal involvement. The following possible protective factors were identified in the mothers: lesser severity of illness, older age, higher education, higher IQ, work experience, and presence of spouse, boyfriend, or other relative to help in child care.     

Genes in idiopathic calcium oxalate stone disease

An examination of the urinary excretions of 101 normal subjects indicated that the major genetic influence on calcium excretion is a codominant pair of alleles giving rise to three phenotypes, low, intermediate and high (hypercalciuric) excretors. This inference was based on variance, Hardy-Weinberg and segregation analyses. Similar independent gene pairs also appear to influence oxalate and citrate excretion, A 3-locus Hardy-einberg table using estimates of gene frequencies derived from the study of normals suggests that only 3 or 4 leading genes are involved in oxalate stone disease. Strong candidate genes identified from molecular and physiological studies cannot be proposed at present, but it is assumed that they influence the transport of these ions in either the intestine, kidney or both organs. The identification of the genes involved should be facilitated by the reduction of dietary influences on urinary excretions through the use of formula diets.     

INAUGURAL ARTICLE by a Recently Elected Academy Member:The cell surface metalloprotease/disintegrin Kuzbanian is required for axonal extension in Drosophila

It has long been suspected that proteolytic activity associated with advancing growth cones may be required for axon extension. We have isolated mutations in the kuzbanian (kuz) gene, which is expressed in the nervous system and encodes a putative zinc metalloprotease with a disintegrin domain. Drosophila embryos with loss-of-function mutations in kuz have dramatic defects in the development of central nervous system axon pathways, with many axons stalling and failing to extend through the nerve cord. This phenotype is rescued by panneural expression of kuz mRNA in the embryo. These results show that the Kuz metalloprotease is required for axon extension, suggesting a requirement for proteolytic activity at the growth cone surface.