Laparoscopic surgery for familial multiple gastrointestinal stromal tumors with germ line c-kit gene mutation

Familial gastrointestinal stromal tumor (GIST) is an exceedingly rare disease characterized by mutations in the c-kit and platelet-derived growth factor receptor alpha genes. We report the case of a 73-year-old woman with multiple submucosal tumors (SMTs) in the stomach and small intestine. Her elder sister had previously presented with multiple SMTs on examination and underwent surgery to remove the tumors because they showed a tendency to increase in size during follow-up. The sister's tumors were pathologically diagnosed as GISTs, and a germ line mutation was recognized in exon 17 of c-kit. Subsequently, the patient presented with multiple SMTs and the same germ line mutation as her sister. After 9 years of follow-up, a single tumor was found to have grown in size, and SILS was performed for this SMT, which was also pathologically diagnosed as a GIST. To our knowledge, this is the first report of laparoscopic surgery for a case of familial GIST.     

Transplantation of Bioengineered Lungs Created From Recipient-Derived Cells Into a Large Animal Model

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Visceral Fat Accumulation is Associated with Mild Cognitive Impairment in Community-Dwelling Older Japanese Women

Visceral fat accumulation is detrimental for brain health and is associated with cognitive impairment in older adults. The objectives of the present study were to examine the association between visceral fat accumulation and prevalence of mild cognitive impairment and its subtypes. Design: a cross-sectional study. This study enrolled 6,109 community-dwelling older adults, including 3,434 women (mean age: 74.4 years) and 2,675 men (mean age: 74.3 years). Individuals with dementia, Parkinson’s disease, stroke, Mini-Mental State Examination scores ≤23, and who could not perform basic activities of daily living independently were excluded. Participants underwent neurocognitive assessments to assess mild cognitive impairment (MCI) and its subtypes. Visceral fat area (VFA) was measured using abdominal bioelectrical impedance analysis. Participants were divided into quartile groups by VFA. There were 731 (21.3%) women and 562 (21.0%) men with MCI, and the median VFA values were 63.3 cm2 and 96.3 cm2, respectively. Women participants in the second (adjusted odds ratios [aOR], 0.71; 95% confidence interval [95% CI], 0.54–0.94), third (aOR, 0.66; 95% CI, 0.47–0.92), and fourth quartiles of VFA (aOR, 0.62; 95% CI, 0.41–0.93) had a significantly lower risk of MCI than those in the first quartile. Higher VFA quartiles in women were associated with lower risk of non-amnestic MCI. There were no significant differences in men between quartiles. Visceral fat accumulation was associated with MCI, especially non-amnestic MCI, in community-dwelling older Japanese women. These results suggest that visceral fat accumulation is partially protective against cognitive impairment.     

Biomarker profiling of postmortem blood for diabetes mellitus and discussion of possible applications of metabolomics for forensic casework

International Journal of Legal Medicine - Acute metabolic disorders of diabetes mellitus (DM), such as diabetic ketoacidosis, hyperosmolar hyperglycemic state, and hypoglycemia, are...     

Conformational Change Observed in the Active Site of Class C β-Lactamase MOX-1 upon Binding to Aztreonam

We solved the crystal structure of the class C β-lactamase MOX-1 complexed with the inhibitor aztreonam at 1.9Å resolution. The main-chain oxygen of Ser315 interacts with the amide nitrogen of aztreonam. Surprisingly, compared to that in the structure of free MOX-1, this main-chain carboxyl changes its position significantly upon binding to aztreonam. This result indicates that the interaction between MOX-1 and β-lactams can be accompanied by conformational changes in the B3 β-strand main chain.     

MAGI-2 orchestrates the localization of backbone proteins in the slit diaphragm of podocytes

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