RESUMO
BACKGROUND: PRSS1 and PRSS2 constitute the only functional copies of a tandemly-arranged five-trypsinogen-gene cluster (i.e., PRSS1, PRSS3P1, PRSS3P2, TRY7 and PRSS2) on chromosome 7q35. Variants in PRSS1 and PRSS2, including missense and copy number variants (CNVs), have been reported to predispose to or protect against chronic pancreatitis (CP). We wondered whether a common trypsinogen pseudogene deletion CNV (that removes two of the three trypsinogen pseudogenes, PRSS3P2 and TRY7) might be associated with CP causation/predisposition. METHODS: We analyzed the common PRSS3P2 and TRY7 deletion CNV in a total of 1536 CP patients and 3506 controls from France, Germany, India and Japan by means of quantitative fluorescent multiplex polymerase chain reaction. RESULTS: We demonstrated that the deletion CNV variant was associated with a protective effect against CP in the French, German and Japanese cohorts whilst a trend toward the same association was noted in the Indian cohort. Meta-analysis under a dominant model yielded a pooled odds ratio (OR) of 0.68 (95% confidence interval (CI) 0.52-0.89; p = 0.005) whereas an allele-based meta-analysis yielded a pooled OR of 0.84 (95% CI 0.77-0.92; p = 0.0001). This protective effect is explicable by reference to the recent finding that the still functional PRSS3P2/TRY7 pseudogene enhancers upregulate pancreatic PRSS2 expression. CONCLUSIONS: The common PRSS3P2 and TRY7 deletion CNV was associated with a reduced risk for CP. This finding provides additional support for the emerging view that dysregulated PRSS2 expression represents a discrete mechanism underlying CP predisposition or protection.
Assuntos
Pancreatite Crônica , Tripsinogênio , Humanos , Alelos , Variações do Número de Cópias de DNA/genética , Predisposição Genética para Doença , Genótipo , Mutação , Pancreatite Crônica/genética , Tripsina/genética , Tripsinogênio/genéticaRESUMO
INTRODUCTION: The care of elderly people living in nursing homes is a medical public health issue. The objective of this study is to evaluate the number of hospitalizations and transports avoided thanks to teleconsultations and to evaluate the therapeutic and follow up consequences of these teleconsultations. METHODS: A retrospective descriptive study of cardiology and neuropsychogeriatric teleconsultations was performed in three nursing home participating in the TokTokDoc Mobile Polyclinic project between September 1st, 2020 and February 28, 2021. RESULTS: We included 77 patients who had a total of 120 teleconsultations. Sixty-seven transports (55.8%) and 12 hospitalizations (10%) were avoided. Therapeutic optimization was achieved in 38 cases (40%). Complex medical assessments were carried out in the same way as a face-to-face consultation. CONCLUSION: Telemedicine is a relevant tool for improving the healthcare circuit care of residents, by avoiding medical transport and hospitalizations. These preliminary results also show the feasibility of teleconsultations in cardiology and neuropsychogeriatrics despite the medical complexity of these two specialties.
