Carcinoma of the hepaticopancreatic ampullar region: role of US

Hepaticopancreatic ampullar tumors are so called because they are located at the confluence of the bile duct, pancreatic duct, and duodenum. Jaundice is an early sign of the disease and often leads to early diagnosis and favorable prognosis compared with other tumors that occur in this area. Of eight patients who underwent ultrasound (US) in the past 5 years, six (75%) were found to have tumor. The sizes of the tumors ranged from 1.6 to 2 cm. An intraluminal, polypoid mass in the distal part of the common bile duct was seen in four patients. In the other two patients, a sharply delineated mass gave rise to abrupt termination of the distal duct. Improved US resolution, more experience with this modality, and accurate diagnosis of these tumors with US will contribute to improved detection and prompt treatment.     

Psychiatric hospitalization: treatment or triage?

We examined the outcome of active duty psychiatric inpatients (N = 101) 2 years after admission. Most patients were young with minor diagnoses (adjustment disorders), yet only 20% were still on active duty 2 years later. This compared poorly with national retention rates for all lengths of time in service (p < 0.0001). Longer time in service and low severity of diagnosis predicted a better outcome. We discuss implications of these findings.     

Fetal calf serum stimulates 'autoreactive' T-cell hybridomas

During attempts to generate Sendai virus-specific T-cell hybridomas, a number of autoreactive T-cell hybridomas were produced. These hybrids secrete IL-2 in response to class II-positive syngeneic cells in the absence of added Sendai virus. Class II molecules on the stimulator cells are involved since monoclonal anti-class II antibodies block the reaction, and mapping studies using recombinant mouse strains show the response is class II restricted. Hybridomas adapted to grow in serum-free medium do not respond to syngeneic cells in the absence of serum; however, addition of fetal calf serum (FCS) restores the response. The component of FCS responsible for the stimulation of the hybridomas has been partially purified and characterized, and its mode of action investigated. These findings suggest that the putative 'autoreactive' T-cell hybridomas reported by others may be specific for a component of the culture medium rather than being truly self-reactive.     

Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?

Based on cytogenetic observations, several syndromes have been previously identified as microdeletion-based disorders. In this review, recent progress is presented regarding whether one or multiple genes can be implicated in the pathogenesis of these segmentally aneusomic syndromes. The syndromes discussed include Angelman, Alagille, Williams, Langer-Giedeon, Prader-Willi, Smith-Magenis, Miller-Dieker, and DiGeorge/velocardiofacial or the 22q11 deletion syndromes. For Angelman and Alagille syndromes, single genes have been identified, whereas for Williams and Langer-Giedion syndromes, more than one gene can be implicated. Although there has been significant progress in dissecting the molecular basis for the other disorders, the ultimate answer regarding one versus several genes remains to be determined.      

Communication between psychiatrists and general practitioners: what style of letters do psychiatrists prefer?

This study investigated the style of referral letter that psychiatrists would like to receive from general practitioners. Ninety psychiatrists in Edinburgh were asked to answer a brief questionnaire about their preferences and select one of six sample letters presented to them. The most popular letter was one page in length and contained two or three headings.     

Structure and diversity of class I antigen presenting molecules in the mouse

Sequence comparisons among class I genes provide insight into the nature and origins of diversity in the human and mouse MHC. The profiles of diversity among alleles and between different loci indicate that genetic interactions among class I genes generate sequence diversity in both species. Humans and mice differ in the extent that sequence transfer occurs between loci. In mice, sequences encoding the antigen binding domain show little evidence of locus specificity. A series of mouse class I mutants have been analyzed, providing strong evidence that interlocus gene conversion plays a significant role in the exchange of sequences among class I genes. A similar process is suspected in human class I and both mouse and human class II genes. However, the transfer of sequence among genes in these groups appears to occur predominantly between alleles and only to a minor extent between loci.     

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

The Bethlem myopathy is a rare autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures. Evidence for linkage and genetic heterogeneity has been established, with the majority of families linked to 21q22.3 and one large family linked to 2q37, implicating the three type VI collagen subunit genes, COL6A1 (chromosome 21), COL6A2 (chromosome 21) and COL6A3 (chromosome 2) as candidate genes. Mutations of the invariant glycine residues in the triple-helical domain-coding region of COL6A1 and COL6A2 have been reported previously in the chromosome 21-linked families. We report here the identification of a G-->A mutation in the N-terminal globular domain-coding region of COL6A3 in a large American pedigree (19 affected, 12 unaffected), leading to the substitution of glycine by glutamic acid in the N2 motif, which is homologous to the type A domains of the von Willebrand factor. This mutation segregated to all affected family members, to no unaffected family members, and was not identified in 338 unrelated Caucasian control chromosomes. Thus mutations in either the triple-helical domain or the globular domain of type VI collagen appear to cause Bethlem myopathy.