263 research outputs found
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Burnout in gastroenterology registrars: a feasibility study conducted in the East of England using a 31-item questionnaire.
OBJECTIVE: The scale of burnout in UK gastroenterology trainees and the feasibility to determine its prevalence using the validated Maslach Burnout Inventory-Human Services Survey (MBI-HSS) tool are unknown. The primary objective of this region-wide pilot study was to evaluate the response rate to a 31-item questionnaire. The secondary objectives were to estimate the prevalence of burnout in gastroenterology trainees within the East of England deanery (EoE) and identify common stressors that trainees experience. DESIGN: This was a cross-sectional study involving gastroenterology trainees from 16 hospitals across the EoE using a 31-item questionnaire. The questionnaire consisted of the 22-item MBI-HSS and nine additional free-text questions. All gastroenterology trainees in the EoE were invited to complete the anonymised survey online. Data were analysed quantitatively and qualitatively. RESULTS: The response rate for the survey was acceptable: 44.0% (40/91). 57.5% (23/40) of gastroenterology trainees reported emotional exhaustion. 23.5% (8/34) had depersonalisation and 63.9% (23/36) experienced low professional accomplishment. Burnout prevalence was 35.3% (12/34). 48.4% (15/31) of gastroenterology trainees were aware of professional support services within EoE. Stressors related to service requirements (eg, workload, staffing levels) and professional relationships with colleagues and patients were commonly reported: 65.6% and 25.0%, respectively. CONCLUSIONS: It is feasible to use a 31-item questionnaire in a national cohort of UK gastroenterology trainees for future burnout studies. Burnout in EoE gastroenterology trainees was high and this may reflect a national prevalence within the specialty. More extensive studies, greater awareness of burnout and improved access to professional support services are required
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Burnout and work-related stressors in gastroenterology: a protocol for a multinational observational study in the ASEAN region.
BACKGROUND: Clinician burnout is an important occupational hazard that may be exacerbated by the novel COVID-19 pandemic. Within Southeast Asia, burnout in gastroenterology is understudied. The primary objective of this study is to estimate the prevalence of burnout symptoms within gastroenterology, in member states of the Associations of Southeast Asian Nations (ASEAN), during and after the COVID-19 pandemic. The secondary objective is to identify work-related stressors that contribute to burnout in ASEAN gastroenterologists. METHODS AND ANALYSIS: This is an observational study that will use anonymised online surveys to estimate the prevalence of burnout symptoms at two time points: during the COVID-19 pandemic in 2020 and in 2022 (assumed to be after the pandemic). Gastroenterologists from Singapore, Malaysia, Thailand, Indonesia, Philippines and Brunei will be invited to participate in the online survey through their national gastroenterology and endoscopy societies. Burnout will be assessed using the Maslach Burnout Inventory-Human Services Survey tool. Supplementary questions will collect demographic and qualitative data. Associations between demographic characteristics and burnout will be tested by multiple regression. RESULTS: The prevalence of burnout symptoms in gastroenterology during the COVID-19 pandemic, and the baseline prevalence after COVID-19, will be established in the above-mentioned countries. Work-related stressors commonly associated with burnout will be identified, allowing the introduction of preventative measures to reduce burnout in the future. ETHICS AND DISSEMINATION: Ethical approval was granted by the Singhealth Centralised Institutional Review Board (2020/2709). Results will be submitted for publication
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The Abbreviated Maslach Burnout Inventory Can Overestimate Burnout: A Study of Anesthesiology Residents.
The Maslach Burnout Inventory for healthcare professionals (MBI-HSS) and its abbreviated version (aMBI), are the most common tools to detect burnout in clinicians. A wide range in burnout prevalence is reported in anesthesiology, so this study aimed to ascertain which of these two tools most accurately detected burnout in our anesthesiology residents. The MBI-HSS and aMBI were distributed amongst 86 residents across three hospitals, with a total of 58 residents completing the survey (67.4% response rate; 17 male and 41 female). Maslach-recommended cut-offs for the MBI-HSS and the aMBI with standard cut-offs were used to estimate burnout prevalence, and actual prevalence was established clinically by a thorough review of multiple data sources. Burnout proportions reported by the MBI-HSS and aMBI were found to be significantly different; 22.4% vs. 62.1% respectively (p < 0.0001). Compared to the actual prevalence of burnout in our cohort, the MBI-HSS detected burnout most accurately; area under receiver operating characteristic of 0.99 (95% confidence interval (CI): 0.92-1.0). Although there was a good correlation between the MBI-HSS and aMBI subscale scores, the positive predictive value of the aMBI was poor; 33.3% (95% CI:27.5-39.8%), therefore caution and clinical correlation are advised when using the aMBI tool because of the high rates of false-positives
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis
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A novel Family Dignity Intervention (FDI) for enhancing and informing holistic palliative care in Asia: study protocol for a randomized controlled trial
Background The lack of a holistic approach to palliative care can lead to a fractured sense of dignity at the end of life, resulting in depression, hopelessness, feelings of being a burden to others, and the loss of the will to live among terminally ill patients. Building on the clinical foundation of Dignity Therapy, together with the empirical understanding of dignity-related concerns of Asian families facing terminal illness, a novel Family Dignity Intervention (FDI) has been developed for Asian palliative care. FDI comprises a recorded interview with a patient and their primary family caregiver, which is transcribed, edited into a legacy document, and returned to the dyads for sharing with the rest of the patient’s family. The aims of this study are to assess the feasibility, acceptability and potential effectiveness of FDI in reducing psychosocial, emotional, spiritual, and psychophysiological distress in community-dwelling and in-patient, Asian, older terminally ill patients and their families living in Singapore. Methods/design An open-label randomized controlled trial. One hundred and twenty-six patient-family dyads are randomly allocated to one of two groups: (1) an intervention group (FDI offered in addition to standard psychological care) and (2) a control group (standard psychological care). Both quantitative and qualitative outcomes are assessed in face-to-face interviews at baseline, 3 days and 2 weeks after intervention, as well as during an exit interview with family caregivers at 2 months post bereavement. Primary outcome measures include sense of dignity for patients and psychological distress for caregivers. Secondary outcomes include meaning in life, quality of life, spirituality, hopefulness, perceived support, and psychophysiological wellbeing, as well as bereavement outcomes for caregivers. Qualitative data are analyzed using the Framework method. Discussion To date, there is no available palliative care intervention for dignity enhancement in Asia. This first-of-its-kind study develops and tests an evidence-based, family driven, psycho-socio-spiritual intervention for enhancing dignity and wellbeing among Asian patients and families facing mortality. It addresses a critical gap in the provision of holistic palliative care. The expected outcomes will contribute to advancements in both theories and practices of palliative care for Singapore and its neighboring regions while serving to inform similar developments in other Asian communities. Trial registration ClinicalTrials.gov, ID: NCT03200730. Registered on 26 June 2017
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
BACKGROUND: von Hippel-Lindau (VHL) disease is a rare hereditary tumor syndrome caused by VHL gene mutations that is characterized by heterogeneous phenotypes such as benign/malignant tumors of the central nervous system, retina, kidney, adrenal gland, and pancreas. The genotype-phenotype correlation has not been well characterized in the Korean population so far. Therefore, this study aimed to evaluate the VHL mutation spectrum and genotype-phenotype correlations in Korean VHL patients. METHODS: Thirteen unrelated subjects with VHL mutations were included. Direct sequencing and multiplex ligation-dependent probe amplification were performed. Consequently, the clinical manifestations and family histories of the subjects were evaluated. RESULTS: We identified 10 different VHL mutations. The c.160_161delAT frameshift mutation was novel. Missense mutations clustered in 2 domains (α domain in exon 1; β domain in exon 3). The most frequently observed mutation was c.208G > A (p.Glu70Lys). Milder phenotypes were observed in subjects with de novo mutations. Age-specific risk for CNS hemangioblastoma was significantly higher in subjects carrying missense mutations within the HIF-α binding site (P < 0.05). CONCLUSIONS: This study provides insight into the genotype-phenotype correlation in that amino acid substitutions in the HIF-α binding site may predispose patients to age-related risks of CNS hemangioblastoma
Spectrum of PEX1 and PEX6 variants in Heimler syndrome
Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 or PEX6, both previously implicated in Zellweger Syndrome Spectrum Disorders (ZSSD). ZSSD are a group of conditions consisting of craniofacial and neurological abnormalities, sensory defects and multi-organ dysfunction. The finding of HS-causing mutations in PEX1 and PEX6 shows that HS represents the mild end of the ZSSD spectrum, though these conditions were previously thought to be distinct nosological entities. Here, we present six further HS families, five with PEX6 variants and one with PEX1 variants, and show the patterns of Pex1, Pex14 and Pex6 immunoreactivity in the mouse retina. While Ratbi et al. found more HS-causing mutations in PEX1 than in PEX6, as is the case for ZSSD, in this cohort PEX6 variants predominate, suggesting both genes play a significant role in HS. The PEX6 variant c.1802G>A, p.(R601Q), reported previously in compound heterozygous state in one HS and three ZSSD cases, was found in compound heterozygous state in three HS families. Haplotype analysis suggests a common founder variant. All families segregated at least one missense variant, consistent with the hypothesis that HS results from genotypes including milder hypomorphic alleles. The clinical overlap of HS with the more common Usher syndrome and lack of peroxisomal abnormalities on plasma screening suggest that HS may be under-diagnosed. Recognition of AI is key to the accurate diagnosis of HS
Cholesterol Perturbation in Mice Results in p53 Degradation and Axonal Pathology through p38 MAPK and Mdm2 Activation
Perturbation of lipid metabolism, especially of cholesterol homeostasis, can be catastrophic to mammalian brain, as it has the highest level of cholesterol in the body. This notion is best illustrated by the severe progressive neurodegeneration in Niemann-Pick Type C (NPC) disease, one of the lysosomal storage diseases, caused by mutations in the NPC1 or NPC2 gene. In this study, we found that growth cone collapse induced by genetic or pharmacological disruption of cholesterol egress from late endosomes/lysosomes was directly related to a decrease in axonal and growth cone levels of the phosphorylated form of the tumor suppressor factor p53. Cholesterol perturbation-induced growth cone collapse and decrease in phosphorylated p53 were reduced by inhibition of p38 mitogen-activated protein kinase (MAPK) and murine double minute (Mdm2) E3 ligase. Growth cone collapse induced by genetic (npc1−/−) or pharmacological modification of cholesterol metabolism was Rho kinase (ROCK)-dependent and associated with increased RhoA protein synthesis; both processes were significantly reduced by P38 MAPK or Mdm2 inhibition. Finally, in vivo ROCK inhibition significantly increased phosphorylated p53 levels and neurofilaments in axons, and axonal bundle size in npc1−/− mice. These results indicate that NPC-related and cholesterol perturbation-induced axonal pathology is associated with an abnormal signaling pathway consisting in p38 MAPK activation leading to Mdm2-mediated p53 degradation, followed by ROCK activation. These results also suggest new targets for pharmacological treatment of NPC disease and other diseases associated with disruption of cholesterol metabolism
Chlorogenic Acid Stimulates Glucose Transport in Skeletal Muscle via AMPK Activation: A Contributor to the Beneficial Effects of Coffee on Diabetes
Chlorogenic acid (CGA) has been shown to delay intestinal glucose absorption and inhibit gluconeogenesis. Our aim was to investigate the role of CGA in the regulation of glucose transport in skeletal muscle isolated from db/db mice and L6 skeletal muscle cells. Oral glucose tolerance test was performed on db/db mice treated with CGA and soleus muscle was isolated for 2-deoxyglucose transport study. 2DG transport was also examined in L6 myotubes with or without inhibitors such as wortmannin or compound c. AMPK was knocked down with AMPKα1/2 siRNA to study its effect on CGA-stimulated glucose transport. GLUT 4 translocation, phosphorylation of AMPK and Akt, AMPK activity, and association of IRS-1 and PI3K were investigated in the presence of CGA. In db/db mice, a significant decrease in fasting blood sugar was observed 10 minutes after the intraperitoneal administration of 250 mg/kg CGA and the effect persisted for another 30 minutes after the glucose challenge. Besides, CGA stimulated and enhanced both basal and insulin-mediated 2DG transports in soleus muscle. In L6 myotubes, CGA caused a dose- and time-dependent increase in glucose transport. Compound c and AMPKα1/2 siRNA abrogated the CGA-stimulated glucose transport. Consistent with these results, CGA was found to phosphorylate AMPK and ACC, consistent with the result of increased AMPK activities. CGA did not appear to enhance association of IRS-1 with p85. However, we observed activation of Akt by CGA. These parallel activations in turn increased translocation of GLUT 4 to plasma membrane. At 2 mmol/l, CGA did not cause any significant changes in viability or proliferation of L6 myotubes. Our data demonstrated for the first time that CGA stimulates glucose transport in skeletal muscle via the activation of AMPK. It appears that CGA may contribute to the beneficial effects of coffee on Type 2 diabetes mellitus
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