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Guanylate cyclase 2C (GC-C), encoded by the GUCY2C gene, is implicated in hereditary early onset chronic diarrhea. Several families with chronic diarrhea symptoms have been identified with autosomal dominant, gain-of-function mutations in GUCY2C. We have identified a Mennonite patient with a novel GUCY2C variant (c.2381A > T; p.Asp794Val) with chronic diarrhea and an extensive maternal family history of chronic diarrhea and bowel dilatation. Functional studies including co-segregation analysis showed that all family members who were heterozygous for this variant had GI-related symptoms. HEK-293 T cells expressing the Asp794Val GC-C variant showed increased cGMP production when stimulated with Escherichia coli heat-stable enterotoxin STp (HST), which was reversed when 5-(3-Bromophenyl)-5,11-dihydro-1,3-dimethyl-1H-indeno[2',1'5,6]pyrido[2,3-d]pyrimidine-2,4,6(3H)-trione (BPIPP; a GC-C inhibitor) was used. In addition, cystic fibrosis transmembrane conductance regulator (CFTR) activity measured with SPQ fluorescence assay was increased in these cells after treatment with HST, indicating a crucial role for CFTR activity in the pathogenesis of this disorder. These results support pathogenicity of the GC-C Asp794Val variant as a cause of chronic diarrhea in this family. Furthermore, this work identifies potential candidate drug, GC-C inhibitor BPIPP, to treat diarrhea caused by this syndrome. Multiple flow cytometry scores/diagnostic systems for the classification of leukemic lymphoproliferative disorders (LPD) have been published but few have been compared between them. We classified a cohort of leukemic LPD based on eleven published flow cytometry scores/diagnostic systems and compared their classification as chronic lymphocytic leukemia (CLL) or non-CLL LPD. 329 patients were included. Patients classified as CLL ranged from 46% to 73%, depending on the score/diagnostic system used. All eleven scores/diagnostic systems agreed in 184/324 (57%) of patients while in 58/324 (18%) at least two scores/diagnostic systems classified the patient differently (from the majority). Fleiss kappa was 0.74, but pairwise agreement was variable (Cohen's kappa 0.48 to 0.87). This study found a suboptimal agreement between published flow cytometry scores/diagnostic systems for the classification of LPD. This study found a suboptimal agreement between published flow cytometry scores/diagnostic systems for the classification of LPD. Port-wine stain (PWS) is a congenital malformation that does not resolve spontaneously and can lead to social and self-stigma. However, little is known about how PWS affects the patients' quality of life (QoL) and psychosocial well-being. In this article, we examine the existing empirical evidence on self-stigma caused by PWS. A systematic review was done using MEDLINE, PubMed, Embase, and Cochrane databases on January 15, 2021 to retrieve all case reports, cohort studies, and clinical trials written in English. The keywords used in this literature search included port-wine stain, quality of life, self-stigma, and social stigma. From the 74 initial records, eight articles were quantitative studies that assessed the QoL and self-stigma experienced by PWS patients. With regard to perceived stigma or the patients' understanding of how others think and act toward them, we found that the parents of children with facial PWS tend to have more perceived stigma than the children. For anticipated stigma or expectations of future stigma, young patients with PWS have less or no concern about their skin conditions. In terms of enacted stigma or experiences with discriminatory acts, there were significant differences in the QoL score between patients with facial PWS and those with non-facial PWS. This study suggests that self-stigma caused by PWS affects young patients and their parents. https://www.selleckchem.com/products/bms-265246.html The parents in particular tend to suffer more than their children from perceived and anticipated stigma. Psychological support and early treatment can improve the livelihoods of young patients and their parents. This study suggests that self-stigma caused by PWS affects young patients and their parents. The parents in particular tend to suffer more than their children from perceived and anticipated stigma. Psychological support and early treatment can improve the livelihoods of young patients and their parents.Many scientists, confined to home office by COVID-19, have been gathering in online communities, which could become viable alternatives to physical meetings and conferences.Systolic blood pressure (SBP) and resting pulse rate (RPR) have been linked to mortality and cardiovascular events in younger population. Till now, no studies simultaneously investigate the non-linear association of SBP and RPR with all-cause and cardiovascular mortality among population aged 80 and older. Data of 2828 eligible participants were selected from electronic health records linked attended automated office blood pressure measurement system. The dose-response relationship between the SBP, RPR, and the risk of all-cause and cardiovascular mortality was analyzed by Cox model with restricted cubic splines. During the 3.6-year follow-up, 442 deaths occurred. Comparing with the optimal SBP (117-145 mmHg), the lower (HR 1.39, 95% CI 1.07-1.81) and higher SBP (HR 1.34, 95% CI 1.08-1.65) were significantly associated with an increasing risk of all-cause mortality. The higher SBP (>144 mmHg) was associated with cardiovascular mortality, with the HR (95% CI) as 1.51 (1.07-2.12). The faster RPR showed the higher risk of all-cause (HR 1.36, 95% CI 1.05-1.76) and cardiovascular (HR 1.51, 95% CI 1.07-2.13) mortality. We found both higher SBP and faster RPR were independently associated with all-cause and cardiovascular mortality, and lower SBP was only associated with the increased risk of all-cause mortality in oldest old community-dwelling Chinese population. Our results demonstrate the prognostic importance of both SBP and RPR in the elderly.This systematic review examined the impact of exercise training interventions on energy intake (EI) and appetite control in adults with overweight/obesity (≥18 years including older adults). Articles were searched up to October 2019. Changes in EI, fasting appetite sensations, and eating behavior traits were examined with random effects meta-analysis, and other outcomes were synthesized qualitatively. Forty-eight articles were included (median [range] BMI = 30.6 [27.0-38.4] kg/m2 ). Study quality was rated as poor, fair, and good in 39, seven, and two studies, respectively. Daily EI was assessed objectively (N = 4), by self-report (N = 22), with a combination of the two (N = 4) or calculated from doubly labeled water (N = 1). In studies rated fair/good, no significant changes in pre-post daily EI were found and a small but negligible (SMD less then 0.20) postintervention difference when compared with no-exercise control groups was observed (five study arms; MD = 102 [1, 203] kcal). There were negligible-to-small pre-post increases in fasting hunger and dietary restraint, decrease in disinhibition, and some positive changes in satiety and food reward/preferences.
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