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.     

Human parotid proline-rich proteins: correlation of genetic polymorphisms to dental caries

Parotid saliva contains a variety of proline-rich proteins. This study found that, among 306 children between the ages of 5 to 15 years, there is a significant increase in the decayed-missing-filled tooth surface (DMFS) score of the permanent teeth with age in children with the specific proline-rich protein phenotypes Pa and Pr. However, the increase in DMFS score of the permanent teeth of children was significantly greater in children with Pa+ and Pr22 than in those with the other phenotypes (Pa- or Pr11 and Pr12). The previously established close correlation between the Pa and Pr phenotypes and the genetic variants of salivary peroxidase (a powerful antibacterial system in the oral cavity) may provide an explanation for the relationship of certain proline-rich protein phenotypes to dental caries.     

Perforated colorectal neoplasms: correlation of clinical, contrast enema, and CT examinations

Results of clinical, contrast enema (CE), and computed tomographic (CT) examinations in 39 patients with perforated colorectal neoplasms were retrospectively reviewed. Twenty patients were toxemic at initial presentation, but in only four patients was the diagnosis of perforated colorectal neoplasm initially suspected clinically. CE study was performed in 22 patients and enabled the diagnosis of perforated neoplasm in 11 cases, neoplasm alone in eight, and neither neoplasm nor perforation in three. CT was performed in 38 patients and enabled the diagnosis of perforated neoplasm in 36; pericolic phlegmon but no mass lesion was evident in two. In 16 patients, CT also demonstrated metastatic disease. Because of its reliability in establishing the diagnosis and staging the extent of the inflammatory and neoplastic disease, CT is indicated in cases of suspected or proved perforated colorectal neoplasm and in cases in which CE study findings are indeterminate or suggestive of perforated neoplasm.     

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.