Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics

Data availability: The datasets supporting the current study have not been deposited in a public repository due to institutional ethics restrictions but are available from the corresponding author on request.This is the final version. Available from Springer via the DOI in this record. AIMS/HYPOTHESIS: Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes that are likely to be more common in populations with high rates of consanguinity. We aimed to determine the contribution of recessive causes of monogenic diabetes in paediatric diabetes clinics and to identify clinical criteria by which to select individuals for recessive monogenic diabetes testing. METHODS: We conducted a cross-sectional study of 1093 children from seven paediatric diabetes clinics across Turkey (a population with high rates of consanguinity). We undertook genetic testing of 50 known dominant and recessive causes of monogenic diabetes for 236 children at low risk of type 1 diabetes. As a comparison, we used monogenic diabetes cases from UK paediatric diabetes clinics (a population with low rates of consanguinity). RESULTS: Thirty-four children in the Turkish cohort had monogenic diabetes, equating to a minimal prevalence of 3.1%, similar to that in the UK cohort (p = 0.40). Forty-one per cent (14/34) had autosomal recessive causes in contrast to 1.6% (2/122) in the UK monogenic diabetes cohort (p 10%) assisted the identification of the dominant (all p ≤ 0.0003) but not recessive cases (all p ≥ 0.2) in Turkey. The presence of certain non-autoimmune extra-pancreatic features greatly assisted the identification of recessive (p < 0.0001, OR 66.9) but not dominant cases. CONCLUSIONS/INTERPRETATION: Recessively inherited mutations are a common cause of monogenic diabetes in populations with high rates of consanguinity. Present MODY-focused genetic testing strategies do not identify affected individuals. To detect all cases of monogenic paediatric diabetes, it is crucial that recessive genes are included in genetic panels and that children are selected for testing if they have certain non-autoimmune extra-pancreatic features in addition to current criteria.Wellcome TrustRoyal SocietyNational Institute for Health Researc

Definitions and incidence of cardiac syndrome X: review and analysis of clinical data

There is no consensus regarding the definition of cardiac syndrome X (CSX). We systematically reviewed recent literature using a standardized search strategy. We included 57 articles. A total of 47 studies mentioned a male/female distribution. A meta-analysis yielded a pooled proportion of females of 0.56 (n = 1,934 patients, with 95% confidence interval: 0.54–0.59). As much as 9 inclusion criteria and 43 exclusion criteria were found in the 57 articles. Applying these criteria to a population with normal coronary angiograms and treated in 1 year at a general hospital, the attributable CSX incidence varied between 3 and 11%. The many inclusion and exclusion criteria result in a wide range of definitions of CSX and these have large effects on the incidence. This shows the need for a generally accepted definition of CSX

Elective Cancer Surgery in COVID-19-Free Surgical Pathways During the SARS-CoV-2 Pandemic: An International, Multicenter, Comparative Cohort Study.

PURPOSE: As cancer surgery restarts after the first COVID-19 wave, health care providers urgently require data to determine where elective surgery is best performed. This study aimed to determine whether COVID-19-free surgical pathways were associated with lower postoperative pulmonary complication rates compared with hospitals with no defined pathway. PATIENTS AND METHODS: This international, multicenter cohort study included patients who underwent elective surgery for 10 solid cancer types without preoperative suspicion of SARS-CoV-2. Participating hospitals included patients from local emergence of SARS-CoV-2 until April 19, 2020. At the time of surgery, hospitals were defined as having a COVID-19-free surgical pathway (complete segregation of the operating theater, critical care, and inpatient ward areas) or no defined pathway (incomplete or no segregation, areas shared with patients with COVID-19). The primary outcome was 30-day postoperative pulmonary complications (pneumonia, acute respiratory distress syndrome, unexpected ventilation). RESULTS: Of 9,171 patients from 447 hospitals in 55 countries, 2,481 were operated on in COVID-19-free surgical pathways. Patients who underwent surgery within COVID-19-free surgical pathways were younger with fewer comorbidities than those in hospitals with no defined pathway but with similar proportions of major surgery. After adjustment, pulmonary complication rates were lower with COVID-19-free surgical pathways (2.2% v 4.9%; adjusted odds ratio [aOR], 0.62; 95% CI, 0.44 to 0.86). This was consistent in sensitivity analyses for low-risk patients (American Society of Anesthesiologists grade 1/2), propensity score-matched models, and patients with negative SARS-CoV-2 preoperative tests. The postoperative SARS-CoV-2 infection rate was also lower in COVID-19-free surgical pathways (2.1% v 3.6%; aOR, 0.53; 95% CI, 0.36 to 0.76). CONCLUSION: Within available resources, dedicated COVID-19-free surgical pathways should be established to provide safe elective cancer surgery during current and before future SARS-CoV-2 outbreaks

Elective cancer surgery in COVID-19-free surgical pathways during the SARS-CoV-2 pandemic: An international, multicenter, comparative cohort study

PURPOSE As cancer surgery restarts after the first COVID-19 wave, health care providers urgently require data to determine where elective surgery is best performed. This study aimed to determine whether COVID-19–free surgical pathways were associated with lower postoperative pulmonary complication rates compared with hospitals with no defined pathway. PATIENTS AND METHODS This international, multicenter cohort study included patients who underwent elective surgery for 10 solid cancer types without preoperative suspicion of SARS-CoV-2. Participating hospitals included patients from local emergence of SARS-CoV-2 until April 19, 2020. At the time of surgery, hospitals were defined as having a COVID-19–free surgical pathway (complete segregation of the operating theater, critical care, and inpatient ward areas) or no defined pathway (incomplete or no segregation, areas shared with patients with COVID-19). The primary outcome was 30-day postoperative pulmonary complications (pneumonia, acute respiratory distress syndrome, unexpected ventilation). RESULTS Of 9,171 patients from 447 hospitals in 55 countries, 2,481 were operated on in COVID-19–free surgical pathways. Patients who underwent surgery within COVID-19–free surgical pathways were younger with fewer comorbidities than those in hospitals with no defined pathway but with similar proportions of major surgery. After adjustment, pulmonary complication rates were lower with COVID-19–free surgical pathways (2.2% v 4.9%; adjusted odds ratio [aOR], 0.62; 95% CI, 0.44 to 0.86). This was consistent in sensitivity analyses for low-risk patients (American Society of Anesthesiologists grade 1/2), propensity score–matched models, and patients with negative SARS-CoV-2 preoperative tests. The postoperative SARS-CoV-2 infection rate was also lower in COVID-19–free surgical pathways (2.1% v 3.6%; aOR, 0.53; 95% CI, 0.36 to 0.76). CONCLUSION Within available resources, dedicated COVID-19–free surgical pathways should be established to provide safe elective cancer surgery during current and before future SARS-CoV-2 outbreaks

Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

This study aimed to describe the change in surgical practice and the impact of SARS-CoV-2 on mortality after surgical resection of colorectal cancer during the initial phases of the SARS-CoV-2 pandemic

Global disparities in surgeons’ workloads, academic engagement and rest periods: the on-calL shIft fOr geNEral SurgeonS (LIONESS) study

: The workload of general surgeons is multifaceted, encompassing not only surgical procedures but also a myriad of other responsibilities. From April to May 2023, we conducted a CHERRIES-compliant internet-based survey analyzing clinical practice, academic engagement, and post-on-call rest. The questionnaire featured six sections with 35 questions. Statistical analysis used Chi-square tests, ANOVA, and logistic regression (SPSS® v. 28). The survey received a total of 1.046 responses (65.4%). Over 78.0% of responders came from Europe, 65.1% came from a general surgery unit; 92.8% of European and 87.5% of North American respondents were involved in research, compared to 71.7% in Africa. Europe led in publishing research studies (6.6 ± 8.6 yearly). Teaching involvement was high in North America (100%) and Africa (91.7%). Surgeons reported an average of 6.7 ± 4.9 on-call shifts per month, with European and North American surgeons experiencing 6.5 ± 4.9 and 7.8 ± 4.1 on-calls monthly, respectively. African surgeons had the highest on-call frequency (8.7 ± 6.1). Post-on-call, only 35.1% of respondents received a day off. Europeans were most likely (40%) to have a day off, while African surgeons were least likely (6.7%). On the adjusted multivariable analysis HDI (Human Development Index) (aOR 1.993) hospital capacity &gt; 400 beds (aOR 2.423), working in a specialty surgery unit (aOR 2.087), and making the on-call in-house (aOR 5.446), significantly predicted the likelihood of having a day off after an on-call shift. Our study revealed critical insights into the disparities in workload, access to research, and professional opportunities for surgeons across different continents, underscored by the HDI

First principles study on new half-metallic ferromagnetic ternary zinc-based sulfide and telluride (Zn3VS4 and Zn3VTe4)

In this resear, we have investigated electronic and magnetic behavior and also some mechanical properties of ternary zinc-based chalcogenides Zn3VCh4 (Ch =S and Te) conform to space group with 215 space number, which have simple cubic (SC) crystal structure, by spin-polarized Generalized Gradient Approximation (GGA) within Density Functional Theory (DFT). To make extensive study within ab initio methods, after the optimization process to get optimal structural parameters in most suitable magnetic phase, the electronic band structures with the total density of electronic states and second order elastic constants to predict some thermal and elastic features have been calculated. The calculated negative formation enthalpy values indicate that, our materials are thermodynamically stable and structurally synthesizable. The observed minority (down) band gaps in the calculated electronic band structures, Eg =2.62 eV for Zn3VS4 and Eg =1.75 eV for Zn3VTe4, show that our crystal systems have half-metallic character. Also, the calculated elastic constants prove that our compounds are mechanically stable due to satisfy the Born-Huang criteria. Moreover, the anisotropic elastic properties have been visualized in two-dimensional (2D) and three-dimensional (3D) surfaces for Young's modulus, linear compressibility, shear modulus and Poisson's ratio as well as with the calculation of the anisotropic factors. © 2019 IOP Publishing Ltd

zinc-based sulfide and telluride (Zn3VS4 and Zn3VTe4)

In this resear, we have investigated electronic and magnetic behavior and also some mechanical properties of ternary zinc-based chalcogenides Zn(3)VCh(4) (Ch = S and Te) conform to P (4) over bar 3m space group with 215 space number, which have simple cubic (SC) crystal structure, by spin-polarized Generalized Gradient Approximation (GGA) within Density Functional Theory (DFT). To make extensive study within ab initio methods, after the optimization process to get optimal structural parameters in most suitable magnetic phase, the electronic band structures with the total density of electronic states and second order elastic constants to predict some thermal and elastic features have been calculated. The calculated negative formation enthalpy values indicate that, our materials are thermodynamically stable and structurally synthesizable. The observed minority (down) band gaps in the calculated electronic band structures, E-g = 2.62 eV for Zn3VS4 and E-g = 1.75 eV for Zn3VTe4, show that our crystal systems have half-metallic character. Also, the calculated elastic constants prove that our compounds are mechanically stable due to satisfy the Born-Huang criteria. Moreover, the anisotropic elastic properties have been visualized in two-dimensional (2D) and three-dimensional (3D) surfaces for Young's modulus, linear compressibility, shear modulus and Poisson's ratio as well as with the calculation of the anisotropic factors.C1 [Erkisi, Aytac] Pamukkale Univ, Arts & Sci Fac, Dept Phys, TR-20020 Denizli, Turkey.[Yildiz, Bugra] Hacettepe Univ, Dept Phys Engn, TR-06800 Ankara, Turkey.[Demir, Kadir] Zonguldak Bulent Ecevit Univ, Dept Phys, TR-67100 Zonguldak, Turkey.[Surucu, Gokhan] Ahi Evran Univ, Dept Elect & Energy, TR-40100 Kirsehir, Turkey.[Surucu, Gokhan] Middle East Tech Univ, Dept Phys, TR-06800 Ankara, Turkey.[Surucu, Gokhan] Gazi Univ, Photon Applicat & Res Ctr, TR-06500 Ankara, Turkey

First principles study on new half-metallic ferromagnetic ternary zinc-based sulfide and telluride (Zn3VS4 and Zn3VTe4)

In this resear, we have investigated electronic and magnetic behavior and also some mechanical properties of ternary zinc-based chalcogenides Zn3VCh4 (Ch =S and Te) conform to space group with 215 space number, which have simple cubic (SC) crystal structure, by spin-polarized Generalized Gradient Approximation (GGA) within Density Functional Theory (DFT). To make extensive study within ab initio methods, after the optimization process to get optimal structural parameters in most suitable magnetic phase, the electronic band structures with the total density of electronic states and second order elastic constants to predict some thermal and elastic features have been calculated. The calculated negative formation enthalpy values indicate that, our materials are thermodynamically stable and structurally synthesizable. The observed minority (down) band gaps in the calculated electronic band structures, Eg =2.62 eV for Zn3VS4 and Eg =1.75 eV for Zn3VTe4, show that our crystal systems have half-metallic character. Also, the calculated elastic constants prove that our compounds are mechanically stable due to satisfy the Born-Huang criteria. Moreover, the anisotropic elastic properties have been visualized in two-dimensional (2D) and three-dimensional (3D) surfaces for Young's modulus, linear compressibility, shear modulus and Poisson's ratio as well as with the calculation of the anisotropic factors. © 2019 IOP Publishing Ltd