67 research outputs found
Safety in Healthcare: From the Flight Deck to the Operating Room
The recent health crisis has increased the workload and the stress levels of healthcare professionals around the world. Such stressful working environments are conducive to an increased incidence of medical errors. Implementing education and training specifically focused on human and organizational factors can promote teamwork and decrease the risk of error. Such techniques have been extensively deployed, most notably in commercial aviation. Numerous tools have been developed to reduce the risk of error associated with routine tasks, forgetting a task and handling alarm situations during commercial flights. Many of these tools can be transferred to the healthcare sector. After a brief recap about the importance of the working environment, this narrative review aims to highlight several specific tools used in commercial aviation that can be readily transferred to the operating theatre
Les logiciels et l'enseignement de la statistique dans les départements " Statistique et Informatique Décisionnelle " (STID) des IUT
International audienceCet article fait le point sur les logiciels de statistique enseignés et utilisés dans les départements " STatistique et Informatique Décisionnelle " (STID) des Instituts Universitaires de Technologie (IUT). Quelles sont les raisons qui ont poussé les départements à choisir tel logiciel plutôt qu'un autre ? Pourquoi tel logiciel est-il apparu incontournable ? Quelle politique des départements visà- vis des logiciels gratuits ? Quelles sont les qualités et défauts des logiciels choisis ? Quelles pratiques pédagogiques pour l'enseignement de ces logiciels ? Quel ressenti des étudiants et des enseignants ? Quelle relation avec les éditeurs ? Quelle évolution à court terme ? Pour essayer de répondre à ces questions, une enquête a été conduite auprès des enseignants des départements, avec un responsable par logiciel (les personnes citées sous le titre de l'article). Dans chaque département, une ou plusieurs personnes se sont chargées de répondre pour leur département aux divers questionnaires (cf. la liste des remerciements). Le questionnaire de base a été proposé par Sylvie Viguier-Pla. La coordination de l'enquête, la synthèse des contributions et la rédaction finale ont été réalisées par Jean-François Petiot et Gérard Grégoire
Respiratory onset in an ALS family with L144F SOD1mutation
International audienceFamilial amyotrophic lateral sclerosis (FALS) cases linked to SOD1 mutations may sometimes present with unusual clinical features such as pure lower motor neuron involvement or sensory signs. We describe a FALS pedigree with the L144F SOD1 mutation in which all cases had respiratory involvement as a first symptom. Although atypical clinical features are not rare in ALS families, this is the first pedigree with respiratory-onset in three affected members. This unusual presentation led to delayed diagnosis in the proband and highlights the fact that respiratory-onset can occur in familial ALS cases carrying SOD1 mutation
Chronic kidney disease has a graded association with death and cardiovascular outcomes in stable coronary artery disease: an analysis of 21,911 patients from the CLARIFY registry
Chronic kidney disease (CKD) is associated with an increased cardiovascular risk in a broad spectrum of populations. However, the risk associated with a reduced estimated glomerular filtration rate (eGFR) in patients with stable coronary artery disease receiving standard care in the modern era, independently of baseline cardiovascular disease, risk factors, and comorbidities, remains unclear. We analyzed data from 21,911 patients with stable coronary artery disease, enrolled in 45 countries between November 2009 and July 2010 in the CLARIFY registry. Patients with abnormal renal function were older, with more comorbidities, and received slightly lower—although overall high—rates of evidence-based secondary prevention therapies than patients with normal renal function. The event rate of patients with CKD stage 3b or more (eGFR <45 mL/min/1.73 m2) was much higher than that associated with any comorbid condition. In a multivariable adjusted Cox proportional hazards model, lower eGFR was independently associated with a graded increased risk of cardiovascular mortality, with adjusted HRs (95% CI) of 0.98 (0.81–1.18), 1.31 (1.05–1.63), 1.77 (1.38–2.27), and 3.12 (2.25–4.33) for eGFR 60–89, 45–59, 30–44, and <30 mL/min/1.73 m2, compared with eGFR ≥90 mL/min/1.73 m2. A strong graded independent relationship exists between the degree of CKD and cardiovascular mortality in this large cohort of patients with chronic coronary artery disease, despite high rates of secondary prevention therapies. Among clinical risk factors and comorbid conditions, CKD stage 3b or more is associated with the highest cardiovascular mortality
Optimal or standard control of systolic and diastolic blood pressure across risk factor categories in patients with chronic coronary syndromes
Aims:
Guidelines have lowered blood pressure (BP) targets to <130/80 mmHg. We examined the benefit of intensive control for each BP component, versus the burden of other modifiable risk factors, in patients with chronic coronary syndromes (CCS).
Methods and results:
The CLARIFY registry (ISRCTN43070564) enrolled 32 703 CCS patients, from 2009−2010, with a 5-year follow-up. Patients with either BP component below European guideline safety boundaries (120/70 mmHg) were excluded, leaving 19 167 patients (mean age 63.8 ± 10.1 years, 78% men) in the present analysis. A multivariable-adjusted Cox proportional hazards model showed a gradual increase in cardiovascular risk (cardiovascular death, myocardial infarction, or stroke) when the number of uncontrolled risk factors (active smoking, no physical activity, low-density lipoprotein cholesterol ≥100 mg/dL, and diabetes with glycated haemoglobin ≥7%) increased [adjusted hazard ratio (HR): 1.34; 95% confidence interval (CI): 1.17−1.52, 1.65 (1.40−1.94), and 2.47 (1.90−3.21) for 1, 2, and 3 or 4 uncontrolled risk factors, respectively, versus 0], without significant interaction with BP. Although uncontrolled systolic (≥140 mmHg) and diastolic (≥90 mmHg) BP were both associated with higher risk than standard BP, standard BP was associated with higher risk than optimal control for only the diastolic component (adjusted HR: 1.08; 95% CI: 0.94−1.25 for systolic BP 130−139 versus 120−129 mmHg and 1.43; 95% CI: 1.27−1.62 for diastolic BP 80−89 versus 70−79 mmHg).
Conclusions:
Our results suggest that optimal BP target in CCS may be ≤139/79 mmHg, and that optimizing the burden of other risk factors should be prioritized over further reduction of systolic BP
Estimating Extracellular Fluid Volume in Healthy Individuals: Evaluation of Existing Formulae and Development of a New Equation
peer reviewedIntroduction: Several clinical settings require an accurate estimation of the physiologically expected extracellular fluid volume (ECFV). We aimed to analyze the performances of existing ECFV-estimating equations and to develop a new equation. Methods: The performances of 11 ECFV-estimating equations were analyzed in 228 healthy kidney donor candidates (Bichat Hospital, Paris, France) who underwent ECFV measurement using the distribution volume of 51Cr-labeled EDTA (51Cr-EDTA). An equation was developed using a penalized linear modeling approach (elastic net regression) and externally (Tenon Hospital, Paris, France, N = 142) validated. Results: Participants from Bichat (mean age 45.2 ± 12.0 years, 43.0% men) and Tenon (47.8 ± 10.3 years, 29.6% men) hospitals had a mean measured ECFV of 15.4 ± 2.8 l and 15.1 ± 2.1 l, respectively. Available ECFV-estimating formulae have highly variable precision and accuracy. The new equation incorporating body weight, height, sex, and age had better precision and accuracy than all other equations in the external validation cohort, with a median bias of −0.20 (95% CI: −0.35 to −0.05) l versus −2.63 (−2.87 to −2.42) l to −0.57 (− 0.83 to −0.40) l and 0.21 (0.12 to 0.43) l to 2.89 (2.65 to 3.11) l, for underestimating and overestimating equations, respectively, an interquartile range for the bias of 0.88 (0.70 to 1.08) l versus 0.91 (0.71 to 1.20) l to 1.93 (1.67 to 2.25) l, and an accuracy within 10% of 90.9% (83.8 to 94.4) versus 88.0% (81.0 to 92.3) to 8.5% (4.2 to 13.4). These results were consistent across subgroups defined by sex, body mass index (BMI), body surface area (BSA), age, and ethnicity. Conclusion: We developed and validated a new equation to estimate the individual reference value of ECFV, which is easily usable in clinical practice. Further validation in cohorts including individuals of extreme age and corpulence remains needed
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis
TAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as well as more common non-Mendelian sporadic ALS (sALS). Here we report a G376V-TDP-43 missense variant in the C-terminal prion-like domain of the protein in two French families affected by an autosomal dominant myopathy but not fulfilling diagnostic criteria for ALS.Patients from both families presented with progressive weakness and atrophy of distal muscles, starting in their fifth to seventh decade. Muscle biopsies revealed a degenerative myopathy characterized by accumulation of rimmed (autophagic) vacuoles, disruption of sarcomere integrity and severe myofibrillar disorganization. The G376V variant altered a highly conserved amino acid residue and was absent in databases on human genome variation. Variant pathogenicity was supported by in silico analyses and functional studies.The G376V mutant increased the formation of cytoplasmic TDP-43 condensates in cell culture models, promoted assembly into high molecular weight oligomers and aggregates in vitro, and altered morphology of TDP-43 condensates arising from phase separation. Moreover, the variant led to the formation of cytoplasmic TDP-43 condensates in patient-derived myoblasts and induced abnormal mRNA splicing in patient muscle tissue.The identification of individuals with TDP-43-related myopathy, but not ALS, implies that TARDBP missense variants may have more pleiotropic effects than previously anticipated and support a primary role for TDP-43 in skeletal muscle pathophysiology. We propose to include TARDBP screening in the genetic work-up of patients with late-onset distal myopathy. Further research is warranted to examine the precise pathogenic mechanisms of TARDBP variants causing either a neurodegenerative or myopathic phenotype. Zibold et al. identify a new TDP-43 missense variant (G376V) in two French families affected by late-onset distal myopathy but not ALS. The findings support a primary role for TDP-43 in skeletal muscle pathophysiology and suggest that TARDBP screening should be included in the genetic work-up of patients with distal myopathy
Hrs and SNX3 Functions in Sorting and Membrane Invagination within Multivesicular Bodies
After internalization, ubiquitinated signaling receptors are delivered to early endosomes. There, they are sorted and incorporated into the intralumenal invaginations of nascent multivesicular bodies, which function as transport intermediates to late endosomes. Receptor sorting is achieved by Hrs—an adaptor-like protein that binds membrane PtdIns3P via a FYVE motif—and then by ESCRT complexes, which presumably also mediate the invagination process. Eventually, intralumenal vesicles are delivered to lysosomes, leading to the notion that EGF receptor sorting into multivesicular bodies mediates lysosomal targeting. Here, we report that Hrs is essential for lysosomal targeting but dispensable for multivesicular body biogenesis and transport to late endosomes. By contrast, we find that the PtdIns3P-binding protein SNX3 is required for multivesicular body formation, but not for EGF receptor degradation. PtdIns3P thus controls the complementary functions of Hrs and SNX3 in sorting and multivesicular body biogenesis
Performance of creatinine-based equations to estimate glomerular filtration rate in White and Black populations in Europe, Brazil and Africa.
peer reviewed("[en] BACKGROUND: A new Chronic Kidney Disease Epidemiology Collaboration equation without the race variable has been recently proposed (CKD-EPIAS). This equation has neither been validated outside USA nor compared with the new European Kidney Function Consortium (EKFC) and Lund-Malmö Revised (LMREV) equations, developed in European cohorts.
METHODS: Standardized creatinine and measured glomerular filtration rate (GFR) from the European EKFC cohorts (n = 13 856 including 6031 individuals in the external validation cohort), from France (n = 4429, including 964 Black Europeans), from Brazil (n = 100) and from Africa (n = 508) were used to test the performances of the equations. A matched analysis between White Europeans and Black Africans or Black Europeans was performed.
RESULTS: In White Europeans (n = 9496), both the EKFC and LMREV equations outperformed CKD-EPIAS (bias of -0.6 and -3.2, respectively versus 5.0 mL/min/1.73 m², and accuracy within 30% of 86.9 and 87.4, respectively, versus 80.9%). In Black Europeans and Black Africans, the best performance was observed with the EKFC equation using a specific Q-value (= concentration of serum creatinine in healthy males and females). These results were confirmed in matched analyses, which showed that serum creatinine concentrations were different in White Europeans, Black Europeans and Black Africans for the same measured GFR, age, sex and body mass index. Creatinine differences were more relevant in males.
CONCLUSION: In a European and African cohort, the performances of CKD-EPIAS remain suboptimal. The EKFC equation, using usual or dedicated population-specific Q-values, presents the best performance in the whole age range in the European and African populations included in this study.","[en] ",""
Neuropathie héréditaire associée à une mutation du gène HSPB1 ou HSPB8 (discussion à propos de 8 cas)
LYON1-BU Santé (693882101) / SudocSudocFranceF
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