Inconsistent expression of both centromeres of a dicentric Y chromosome in a child with ambiguous external genitalia.

A newborn child with ambiguous external genitalia had evidence of internal female development on the left and internal male development on the right. Blood chromosome analysis showed three cell types: 45,X; 46,XY with the Y being submetacentric and about twice the usual size with two 'centromeric' C bands; and 46,X,dic(Y). Chromosome studies from the skin, uterus, and Fallopian tube showed almost exclusively 45,X cells. This represents the second reported patient in whom two centromeres are inconsistently expressed though present as shown by two 'centromeric' C bands.     

Genetic counseling in ornithine carbamoyltransferase deficiency

Ornithine transcarbamylase (OTC) deficiency is an inborn error of urea cycle metabolism, responsible for lethal hyperammonemia in males and for severe symptoms in at least 20% of heterozygous females. The authors provide here additional data on the informativity of the protein loading test (PLT) for the detection of heterozygotes. They show that the risk of being a carrier for the mother of an affected boy falls from 2/3 a priori to only 1/8 if her PLT is negative. The risk for the mother of heterozygote girl falls from 1/2 a priori to 1/16 if her PLT is negative.     

Effects of social factors on adrenal weight and related physiology of Macaca fascicularis

Increased adrenal cortical activity and hypertrophy of adrenal glands associated with defeat and social subordination have been reported frequently in small mammals; these adrenal changes have been linked to impairments in immune response, glucose metabolism and reproductive performance. Similar studies in primates have produced variable results. The current study was undertaken to illuminate the effects of social status on the adrenal gland and to examine concurrent effects of social variables on other physiological systems in Macaca fascicularis, in an initial exploration of the hypothesis that high and low social status have different physiological consequences. Sixty adult male M. fascicularis were housed in social groups of n = 5, under either stable or unstable social conditions. It was found that subordinate animals had heavier adrenal glands and somewhat higher plasma glucose concentrations than dominants. In contrast, dominants had higher blood pressure and worsened atherosclerosis, under some conditions, than subordinates. These data appear to offer preliminary support for Henry and Stephen's hypothesis of differential arousal of dominant and subordinate animals.     

Community stressors, mediating conditions and wellbeing in urban neighborhoods.

Individual and community measures of stress are related to the presence of depression/demoralization symptoms (Feeling Bad), to positive Wellbeing (Feeling Good) and to the combination of these two (Wellbeing), in an urban sample of 549 adults. The mediation and moderation of these effects by indicators of social support, evaluation of status, and belief variables intended to measure aspects of individual coping tendencies are examined and tested. The findings suggest the absence of moderating effects of any of the support and coping variables on each stressor or on the effects of stressors on Feeling Bad, Feeling Good, and Wellbeing. A number of the variables do, however, have significant main effects, and thus appear to operate directly on the dependent variables, regardless of the presence or level of stress. Differences between apparent effects on Feeling Good and Feeling Bad and the increase in effects for the combination measure are discussed.     

Age effects on executive ability

Heterogeneity of executive tasks has made it difficult to determine whether there are age-related declines in executive functioning. To address this issue, 112 individuals, 20-79 years old, took the California Trail Making Test (CTMT) and the California Stroop Test (CST), subtests of the Delis-Kaplan Executive Function Scale (D. C. Delis, E. Kaplan, & J. H. Kramer, in press) that include measurement of component skills embedded in the executive function tasks. Multiple regression analyses revealed that after controlling for component skills, age had a significant effect on the executive requirement of the CST, namely speed on the interference condition. Age did not affect switching performance on the letter-number condition of the CTMT. Additional analyses revealed that age was significantly associated with commission of certain types of errors. This study confirms the importance of partialing out components in the assessment of multidimensional cognitive tasks, particularly when making age comparisons. It also emphasizes specificity over generalizability when examining the impact of age on cognition.     

Evaluation of the Spot-CAMP test for the rapid presumptive identification of group B streptococci

A rapid Spot-CAMP test was evaluated for its ability to accurately identify colonies of Streptococcus agalactiae (Lancefield Group B) growing on primary sheep blood agar plates. The test uses a beta-lysin-containing filtrate, which is prepared from a broth culture of Staphylococcus aureus. A drop of beta-lysin filtrate is applied adjacent to a suspected group B Streptococcus (GBS) colony and the plate is incubated and then examined for a zone of synergistic hemolysis. The Spot-CAMP test demonstrated 100% correlation with both a Standard CAMP procedure and Lancefield serogrouping. The rapid Spot-CAMP test was easy to perform and inexpensive, and could presumptively identify within 30 minutes colonies of GBS growing on primary isolation plates.     

Rescue of a thymotropic, leukemogenic C-type virus from cultured, nonproducer-lymphoma cells of strain C57BL/Ka mice.

A permanent cell line, BL/RL₁₂-NP, derived from a radiation-induced C57BL/Ka mouse lymphoid tumor, has remained devoid of MuLV expression, except for the rare, sporadic initiation of virus production in some cultures. It can, however, be stably infected by the radiation leukemia virus (RadLV), and the progeny virus population retains the biological and serological properties of the parental RadLV. The cells can also be infected by a B-ecotropic, nonthymotropic, nonleukemogenic C57BL/Ka virus isolate, BL/Ka (B). In the latter situation, the emerging virus particles may exhibit thymotropic and leukemogenic (T+L+) attributes similar to those of RadLV, while retaining at least some of the envelope determinants of BL/Ka (B). These observations suggest that, following productive infection by a nonleukemogenic helper virus, oncogenic sequences endogenous to the non-producer lymphoma cells may be packaged in infectious progeny virions. The data are interpreted as providing strong support for the existence, in radiogenic lymphomas, of defective T+L+ sequences, designated RadLV-O. Possible mechanisms whereby RadLV-O is later expressed as an infectious leukemogenic virus are discussed.     

A prospective trial of colchicine for primary biliary cirrhosis

We entered 60 patients with primary biliary cirrhosis in a double-blind randomized controlled trial to determine whether colchicine is therapeutically effective. Thirty patients had early disease (Stages 1 and 2), and 30 had advanced disease (Stages 3 and 4). Fifteen patients with early disease and 15 with advanced disease received colchicine (0.6 mg twice daily), and the remainder received placebo. Patients were studied about every two months; those remaining in the blind phase at two years underwent repeat liver biopsy and were then placed on open-label colchicine (0.6 mg twice daily). With a few exceptions, the results in patients with early disease were similar to those in patients with advanced disease; hence, data on patients in all stages were combined in the main analysis. During the two-year study period the colchicine-treated patients, as compared with the placebo-treated patients, had improvement in levels of serum albumin, serum bilirubin, alkaline phosphatase, cholesterol, and aminotransferases. However, there was no such improvement in the severity of symptoms or physical findings; moreover, there was no significant difference in the histologic changes noted at liver biopsy in the two treatment groups. At four years after entry, the cumulative mortality from liver disease was 21 percent in patients given colchicine and 47 percent in those given placebo (P = 0.05). The only side effect of colchicine was diarrhea, noted in three patients. The consistent and significant improvement in a number of markers of liver disease and the apparent decreased mortality from liver disease suggest that colchicine may provide some long-term clinical benefit in patients with primary biliary cirrhosis. However, the failure of colchicine to reduce hepatic inflammation and fibrosis leaves uncertain the effect of the drug on the longterm outcome of this disease.     

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

Chronic distal spinal muscular atrophy (Chronic DSMA, MIM (*)607088) is a rare autosomal recessive disorder characterized by a progressive motor weakness and muscular atrophy, predominating in the distal parts of the limbs. A form of Chronic DSMA gene has been previously mapped to chromosome 11q13 in the 10.3 cM interval defined by loci D11S1889 and D11S1321. By linkage analysis in 12 European Chronic DSMA families, we showed that a disease gene maps to chromosome 11q13.3 (Z(max)=6.66 at theta=0.00 at the DSM4 locus) and suggested that this condition is genetically homogeneous. Recombination events allowed us to reduce the genetic interval to a 2.6 cM region, telomeric to the IGHMBP2 gene, excluding this gene as the disease causing gene in Chronic DSMA. Moreover, partial linkage disequilibrium was found between three rare alleles at loci D11S1369, DSM4 and D11S4184 and the mutant chromosome in European patients. Analysis of the markers at these loci strongly suggests that most Chronic DSMA chromosomes are derived from a single ancestor. Refinement of the Chronic DSMA locus will hopefully allow to test candidate genes and lead to identification of the disease-causing mutations.