Duplication 10q confirmed by DNA in situ hybridization

Partial duplication of 10q is a recognizable clinical entity. In most of the reported cases, the trisomic segment is identified by a balanced translocation state in a parent. Verification remains a problem in de novo cases. However, the recent availability of whole chromosome probes allows for confirmatory diagnosis of suspected cases. We describe a case of de novo duplication (10q) wiht verification using DNA in situ hybridization. © 1994 Wiley-Liss, Inc.     

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

Tuberous sclerosis is an autosomal dominant disease whose characteristicfeature is the development of multiple hamartomas in a varietyof organs and tissues. Two major loci have been identified sofar: TSC1 on chromosome 9q34 and TSC2 on chromosome 16p13.3.Loss of heterozygosity at 16p13.3-associated markers has beenrecently observed in hamartomatous lesions of some tuberoussclerosis patients. Here we report the first evidence of lossof heterozygosity at the TSC1 critical region in a giant cellastrocytoma of a familial tuberous sclerosis case. Segregationanalysis showed that the 9q34 haplotype lost carried the putativenormal TSC1 gene. These data support the hypothesis of botha germline and somatic loss-of-function mutation for the developmentof tuberous sclerosis hamartomas and suggest a tumor-suppressor-likeactivity also for the TSC1 gene product. Finally, the possiblesignificance of a second small region of loss of heterozygosityat 9p21, found in the same astrocytoma, is discussed.     

The impact of working life on health behavior: the effect of job strain on the cognitive predictors of exercise

The theory of planned behavior (TPB) and R. A. Karasek's (1979) job strain model were used to investigate the predictors of exercise in a group of employees. A total of 241 employees completed an initial questionnaire; 1 week later 213 employees responded to a questionnaire measuring behavior. Employees in high-strain jobs did significantly less exercise than those in low-strain jobs, although they did not intend to do less, suggesting that work may impede the intention implementation. Intenders who failed to exercise had significantly higher work demands and lower exercise self-efficacy than intenders who succeeded in exercising. Work also affected exercise indirectly through self-efficacy. Thus, work may be a target for behavior change intervention because of its impact at 2 stages of the TPB.     

A comparison of two commerical methods for the identification of the Enterobacteriaceae--API 20E and the Enterotube--with conventional methods.

The API 20E, the Enterotube, and routine methods of Cowan and Steel were used in parallel to identify 245 members of the Enterobacteriaceae. The API 20E and conventional methods gave the same identification in all but 2 (0-8%) of the 245 organisms tested. The Enterotube correctly identified 85% of these organisms on the first testing. On re-testing those organisms incorrectly identified the Enterotube results agreed with the conventional ones in a further 20 (8%). There was no change in the identification obtained by the API or conventional methods. Further conventional sugar tests were necessary before final identification was available by the API system in 7 (3%) against 106 (47%) of the 226 organisms correctly identified by the Enterotube. The Enterotube relied on serological testing alone to distinguish between alternatives in 17 (7%) isolates. Other advantages and disadvantages of these systems are discussed.     

Differential distribution of spinal cord field potentials

Summary Electrical stimulation of the sural, superficial peroneal and plantar nerves in anesthetized cats produces a sequence of potentials in the spinal cord lumbosacral enlargement. The distributions of the spinal cord dorsum negative intermediary potential (N1 wave) and of the associated field potential recorded in depth from the spinal gray matter were mapped. The N1 wave produced by the sural nerve was largest at the junction of the S1 and L7 segments, whereas that evoked by the other two nerves was maximum in L6 and L7. The field potentials recorded in depth also showed a differential distribution. The maximum negativity during phase 2, corresponding to the N1 cord dorsum potential, was found to lie laterally in the dorsal horn when the sural nerve was stimulated, but medially when the plantar nerve was activated. The superficial peroneal nerve produced its largest negative field potential in the central region of the dorsal horn. The negative field potentials from the sural and superficial peroneal nerves were not as well separated spatially from each other as they were from the potential evoked by the plantar nerve.     

Initial Impression of Two New Brief-Pulse Electroconvulsive Therapy Machines

Until last year only two U.S. manufacturers were producing ECT machines for purchase. These machines differed in waveforms: a sine-wave device (Medcraft Corp.) and a brief-pulse bidirectional square-wave machine (MECTA Corp.). Early in 1985 a new brief-pulse bidirectional square-wave machine called the Thymatron was marketed (Somatics Inc.). For the first time this created a choice in brief-pulse equipment available in the U.S. This paper summarizes our initial impressions to this new brief-pulse device and one of MECTA's most recent brief-pulse models (SR-1) in terms of features, safety, practicality, and cost.     

Food intake of institutionalized women over 80 years of age

Food intake of 30 women over 80 years of age and residing in a long-term care facility was determined for a five-day period using the weighed intake method. Purposes of the study were to examine the contribution to nutrient intake of foods from eight major food groups; to characterize intake by time of day; and to examine the effect of age on nutrient intake. The results indicated that intakes of calcium, thiamin, vitamin A, zinc, and protein were below recommended levels. Analysis of intake by food group revealed that the grain group was the primary source of energy and many nutrients. Percentage consumption of foods in this group was significantly higher than that of vegetables or meat and alternates. Analysis of intake by time of day indicated that more energy was consumed at breakfast than at dinner. Advanced age was negatively correlated with overall dietary adequacy, although the distribution of energy intake from the eight food groups did not change with age. Implications of the results, for these subjects and similar groups of elderly, are discussed.     

Loneliness,social support,social isolation and wellbeing among working age adults with and without disability: Cross-sectional study

BackgroundLoneliness is significantly related to health and wellbeing. However, there is little information on the prevalence of loneliness among people with disability or the association between disability, loneliness and wellbeing.Objective/hypothesisFor a nationally representative sample of adults (age 16–64) with/without disability, to examine exposure to three indicators of low social connectedness (loneliness, low perceived social support, social isolation), and to evaluate the association between low social connectedness and wellbeing. To test whether disability status moderated the relationship between low social connectedness and wellbeing.MethodsSecondary analysis of data from three annual rounds of the cross-sectional English Community Life Survey (CLS) 2016–19.ResultsPeople with disability experienced loneliness, low perceived social support and social isolation at significantly higher rates than people without disability. Effect sizes were significantly greater for loneliness. Disability was associated with lower wellbeing. With one exception, low social connectedness was associated with lower wellbeing. Again, effect sizes were significantly greater for loneliness. The prevalence of loneliness was highest among adults with disability who were younger, economically inactive, living in rented or other accommodation, living alone and with low levels of access to environmental assets. There was no evidence that disability status moderated the association between exposure to low social connectedness and low wellbeing.ConclusionsLoneliness was a particularly significant driver of poor wellbeing among people with disability. The relative independence between different indicators of social connectedness suggests that interventions to reduce loneliness will need to do more than simply increase rates of social contact or social support.     

Microbiome as Mediator of Diet on Colorectal Cancer Risk: The Role of Vitamin D,Markers of Inflammation and Adipokines

Obesity and diet are associated with colorectal cancer (CRC) risk, and microbiome could mediate this risk factor. To investigate this interaction, we performed a case–control study (34 CRC cases and 32 controls) and analyzed fecal microbiota composition using 16S rRNA metabarcoding and sub-sequential shotgun analyses of genomic bacterial DNA to evaluate the role of microbiome and diet in CRC etiology, taking into account vitamin D and other risk biomarkers. Dietary habits were evaluated using a short questionnaire. Multivariate methods for data integration and mediation analysis models were used to investigate causal relationships. CRC cases were significantly more often deficient in vitamin D than controls (p = 0.04); FokI and CYP24A1 polymorphism frequency were different between cases and controls (p = 0.03 and p = 0.02, respectively). A diet poor in fatty fish and rich in carbohydrates was found to be significantly associated with CRC risk (p = 0.011). The mediation analysis confirmed the significant role of the microbiome in mediating CRC risk—increasing levels of Bifidobacteria/Escherichia genera ratio, an indicator of “healthy” intestinal microbiome, can overcome the effect of diet on CRC risk (p = 0.03). This study suggests that microbiome mediates the diet effect on CRC risk, and that vitamin D, markers of inflammation, and adipokines are other factors to consider in order to achieve a better knowledge of the whole carcinogenic process.