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Philadelphia chromosome-positive acute myeloid leukemia (Ph+ AML) is a provisional disease entity in the 2016 WHO classification, while its genetic profile of Ph+ AML remains poorly defined. In addition, the differentiating features of Ph+ AML and chronic myeloid leukemia in myeloid blast crisis (CML-MBC) remain controversial.We conducted a retrospective study of 15 Ph+ AML patients to compare their clinical and laboratory profiles with 27 CML-MBC patients.Compared to CML-MBC, Ph+ AML patients presented with significantly higher peripheral WBC count and bone marrow blast percentage. The immunophenotypic profiles were largely similar between Ph+ AML and CML-MBC, except for CD4 expression, which was significantly enriched in CML-MBC. Ph+ AML patients less frequently harboured co-occurring additional cytogenetic abnormalities (ACA) compared to CML-MBC, and trisomy 19 (23%) and IDH1/2 (46%) were the most common ACA and mutated genes in Ph+ AML, respectively. Overall survival (OS) did not significantly differ between Ph+ AML and CML-MBC. Ph+ AML without CML-like features appeared to have a better outcome compared to Ph+ AML with CML-like features; ACA in Ph+ AML may confer an even worse prognosis.Our results indicate that patients with Ph+ AML share similar genetic profiles and clinical outcomes with those with CML-MBC, thus should be classified as a high-risk entity.

The COVID-19 pandemic has strained surgical systems worldwide and placed healthcare providers at risk in their workplace. To protect surgical care providers caring for patients with COVID-19, in May 2020 we developed a COVID-19 Surgical Patient Checklist (C19 SPC), including online training materials, to accompany the World Health Organization Surgical Safety Checklist. In October 2020, an online survey was conducted via partner and social media networks to understand perioperative clinicians’ intraoperative practice and perceptions of safety while caring for COVID-19 positive patients and gain feedback on the utility of C19 SPC. Descriptive statistics were used to characterise responses by World Bank income classification. Qualitative analysis was performed to describe respondents' perceptions of C19 SPC and recommended modifications. Respondents included 539 perioperative clinicians from 63 countries. One-third of respondents reported feeling unsafe in their workplace due to COVID-19 with significantly higher proportions in low (39.8%) and lower-middle (33.9%) than higher income countries (15.6%). The most cited concern was the risk of COVID-19 transmission to self, colleagues and family. A large proportion of respondents (65.3%) reported that they had not used C19 SPC, yet 83.8% of these respondents felt it would be useful. Of those who reported that they had used C19 SPC, 62.0% stated feeling safer in the workplace because of its use. Based on survey results, modifications were incorporated into a subsequent version. Our survey findings suggest that perioperative clinicians report feeling unsafe at work during the COVID-19 pandemic. In addition, adjunct tools such as the C19 SPC can help to improve perceived safety.

Anemia is one of the most frequent complications in patients with chronic kidney disease (CKD). Despite being multifactorial, the relative or absolute deficiency of erythropoietin production is the leading cause. Recent studies have shown that uremic toxins produced by the gut microbiota also may play a role in the genesis of anemia in these patients. To evaluate the possible association between uremic toxins plasma levels and anemia in patients with CKD on hemodialysis (HD). This cross-sectional study evaluated one hundred fifty-four patients (53.2% men, 51.2 ± 11.2 years, hemoglobin (Hb) levels of 11.2 ± 1.6 g/dL). Biochemical variables such as urea, creatinine, hemoglobin, hematocrit, were measured according to standard methods and uremic toxins such as indoxyl sulfate (IS), indole-3-acetic acid (IAA), p-cresyl sulfate (p-CS) plasma levels were measured by reverse-phase high-performance liquid chromatography (RP-HPLC). The levels of uremic toxins such as IS, IAA, p-CS were increased in all patients. However, no correlation was found between uremic toxins plasma levels and anemia parameters. Only patients with Hb

Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) generally confers poor prognosis, however, patient outcomes are heterogeneous. The impact of TP53 allelic state and variant allele frequency (VAF) in AML-MRC remains poorly defined.We retrospectively evaluated 266 AML-MRC patients who had NGS testing at our institution from 2014 to 2020 and analyzed their clinical outcomes based on clinicopathological features.TP53 mutations were associated with cytogenetic abnormalities in 5q, 7q, 17p, and complex karyotype. Prognostic evaluation of TP53Our study suggests that TP53

L’objectif : L’objectif général est d’établir un répertoire actualisé des taxons et d’évaluer la diversité du phytoplancton du lac Nokoué soumis aux multiples menaces de degradation écologique. Méthodologie et résultats : L’étude a été réalisée de mars au juillet 2019. Cinq campagnes d’échantillonnage ont été effectuées au niveau de 11 stations. La collecte des échantillons de phytoplancton a été faite avec un filet à plancton de 30 μm de maille et de 13 cm de rayon. Les indices de diversité alpha ont été calculés pour analyser la biodiversité de la communauté et l’Analyse Factorielle des Correspondances (AFC) a été appliquée sur matrice présence-absence pour le regroupement des stations en fonction de leurs similarités floristiques. L’inventaire a relevé 141 taxa (genres, espèces) appartenant à 7 embranchements, 16 classes, 41 ordres et 56 familles. Les embranchements recensés sont constitués de Diatomophyta, Chlorophyta, Cyanophyta, Euglenophyta, Chrysophyta, Pyrrophyta et des Rhodophyta. Trois embranchements ont fourni les fortes richesses représentés par les Diatomophyta (66,99%), les Chlorophyta (12,42%) et les Cyanophyta (11,80). Ces embranchements ont présenté aussi les densités les plus élevées ; Diatomophyta (43361.106 cel/ litre), Chlorophyta (804.106 cel/litre), Cyanophyta (764.106 cel/litre). Conclusion et applications des résultats : Les grands phylums échantillonnés tels que les Diatomophyta, les Chlorophyta, les Cyanophyta et les Euglenophyta, indicateurs de pollution, traduisent un stress écologique du plan d’eau et un degré élevé d’eutrophisation. Ces résultats constituent un précieux outil de base pour des politiques ultérieures de biomonitoring, d’aménagement, de conservation et de gestion durable des ressources du lac Nokoué et de restauration de ses services écosystémiques. English title: Population of phytoplankton in Lake Nokoué in southern Benin: update and spatio-temporal dynamics ABSTRACT Objective: The general objective is to establish an updated inventory of taxa and to assess the diversity of phytoplankton in Lake Nokoué subject to multiple threats of ecological degradation. Methodology and results: The study was carried out from March to July 2019. Five sampling campaigns were carried out at 11 stations. The collection of the phytoplankton samples was done with a plankton net of 30 μm mesh and 13 cm radius. Alpha diversity indices were calculated to analyze the biodiversity of the community and Factorial Correspondence Analysis (FCA) was applied to the presence-absence matrix for the grouping of stations according to their floristic similarities. The inventory identified 141 taxa (genera, species) belonging to 7 branches, 16 classes, 41 orders and 56 families. The listed phyla consist of Diatomophyta, Chlorophyta, Cyanophyta, Euglenophyta, Chrysophyta, Pyrrophyta and Rhodophyta. Three presented the strong wealth represented by Diatomophyta (66.99%), Chlorophyta (12.42%) and Cyanophyta (11.80). These phyla also presented the highest densities; Diatomophyta (43361.106 cels/litre), Chlorophyta (804.106 cels/litre), Cyanophyta (764.106 cels/litre). Conclusions and application of findings: The major phyla sampled such as Diatomophyta, Chlorophyta, Cyanophyta and Euglenophyta, indicators of pollution, reflect ecological stress in the lake and a high degree of eutrophication. These results constitute a valuable basic tool for any subsequent policy of biomonitoring, development, conservation and sustainable management of the resources of Lake Nokoué and restoration of its ecosystem services. Keywords: Biodiversity, phytoplankton, taxonomy, ecological stress, Lake Nokoué

Summary There is limited understanding of the impact of frailty on clinical outcomes in patients with myelofibrosis (MF). In this retrospective cohort study on 439 chronic phase MF patients [mean age: 68·7 ± 12 years; median follow‐up: 3·4 years (IQR 0·4–8·6)] from 2004 till 2018, we used a 35‐variable frailty index (FI) to categorise patient’s frailty status as fit (FI

Genomic sequencing (GS) can reveal secondary findings (SFs), findings unrelated to the reason for testing, that can be overwhelming to both patients and providers. An effective approach for communicating all clinically significant primary and secondary GS results is needed to effectively manage this large volume of results. The aim of this study was to develop a comprehensive approach to communicate all clinically significant primary and SF results. A genomic test report with accompanying patient and provider letters were developed in 3 phases: review of current clinical reporting practices, consulting with genetic and non-genetics experts, and iterative refinement through circulation to key stakeholders. The genomic test report and consultation letters present a myriad of clinically relevant GS results in distinct, tabulated sections, including primary and secondary findings, with in-depth details of each finding. They provide detailed variant and disease information, personal and familial risk assessments, clinical management details, and additional resources to help support providers and patients with implementing healthcare recommendations related to their GS results. The report and consultation letters represent a comprehensive approach to communicate all clinically significant SFs to patients and providers, facilitating clinical management of GS results.

The impact of adverse risk genetic profiles on outcomes in acute myeloid leukemia (AML) patients following allogeneic hematopoietic stem cell transplantation (HCT) has not been fully elucidated. Accordingly, we have profiled somatic mutations at diagnosis using next-generation sequencing (NGS) in 178 AML patients who received allogeneic HCT. NGS revealed 598 somatic mutations in 165/178 patients (92.7%). Frequently mutated genes include DNMT3A, TET2, NPM1, RUNX1, IDH2, and FLT3. Commonly detected cytogenetic profiles include normal karyotype, trisomy 8, monosomal karyotype (MK), deletion 5, complex karyotype (CK), and monosomy 7. In univariate analyses, TP53 mutation, MK, CK, and monosomy 7 were associated with decreased overall survival (OS), relapse-free survival (RFS), and a higher relapse incidence (RI). We defined adverse molecular-genetic profile as harboring at least one of the molecular/genetic abnormalities of TP53 mutation, MK, CK, monosomy 7, and deletion 5. The patients harboring adverse molecular-genetic profile (n = 30) showed a lower 2-year OS (24.9% vs. 57.9%; p = 0.003), RFS (23.7% vs. 57.9%; p = 0.002), and higher RI (47.2% and 17.2%; p = 0.001) after HCT when compared to patients without those lesions. Multivariate analysis confirmed adverse molecular-genetic profile as an independent prognostic factor, associated with decreased OS (HR 2.19), RFS (HR 2.23), and higher RI (HR 2.94).

Background As surgical systems are forced to adapt and respond to new challenges, so should the patient safety tools within those systems. We sought to determine how the WHO SSC might best be adapted during the COVID-19 pandemic. Methods 18 Panelists from five continents and multiple clinical specialties participated in a three-round modified Delphi technique to identify potential recommendations, assess agreement with proposed recommendations and address items not meeting consensus. Results From an initial 29 recommendations identified in the first round, 12 were identified for inclusion in the second round. After discussion of recommendations without consensus for inclusion or exclusion, four additional recommendations were added for an eventual 16 recommendations. Nine of these recommendations were related to checklist content, while seven recommendations were related to implementation. Conclusions This multinational panel has identified 16 recommendations for sites looking to use the surgical safety checklist during the COVID-19 pandemic. These recommendations provide an example of how the SSC can adapt to meet urgent and emerging needs of surgical systems by targeting important processes and encouraging critical discussions.

The design of a vertical axis wind turbine (Darrieus type) adapted to the site of Cotonou in the coastal region of Benin was investigated. The statistical study of winds based on the Weibull distribution was carried out on hourly wind data measured at 10 m above the ground by the Agency for the Safety of Air Navigation in Africa and Madagascar (ASECNA) over the period from January 1981 to December 2014. The geometrical and functional parameters of the wind turbine were determined from different models and aerodynamic approaches. The digital design and assembly of the wind turbine components were carried out using the TOPSOLID software. The designed wind turbine has a power of 200W. It is equipped with a synchronous generator with permanent magnets and has three wooden blades with NACA 0015 profile. The optimal coefficient of lift and drag were estimated respectively at 0.7832 and 0.01578. The blades are characterized by an optimum angle of attack estimated at 6.25° with a maximum fineness of 49.63. Their length is 4 m and the maximum thickness is estimated at 0.03 m with a chord of 0.20 m. The volume and mass are respectively equal to 0.024 m3 and 36 kg. The aerodynamic stall occurs at an attack angle of 14.25°. The aerodynamic force exerted on these blades is estimated to be 240 N. The aerodynamic stresses exerted on the rotor are estimated at 15 864 504 Pa and the solidity at 0.27. The efficiency of the wind turbine is 0.323. From TOPSOLID, the geometrical shape of each component of the wind turbine is represented in three dimensions. The assembly allowed to visualizing the wind turbine after export via its graphical interface. The quantity of annual energy produced by the wind turbine was estimated at 0.85 MWh. This study is the first to be carried out in the study area and could reduce the technological dependence of vertical axis wind turbines and their import for low cost energy production.

Background and Aim: Laying hen breeding is on the rise in Benin; nevertheless, there are several sanitary constraints to its development, including bacterial diseases. Faced with this situation, breeders mainly resort to different means of treatment. The objective of this study was to assess the current state of hygiene measures, the bacterial diseases commonly encountered, and antibiotic therapy practices on laying hen farms in Benin. Materials and Methods: A total of 200 laying hen farms were randomly selected from lists of laying hen farms obtained from veterinary offices, territorial agricultural development agencies, and the Benin National Union of Professional Aviculturists. Each visited farmer was subjected to a semi-structured questionnaire by direct interview. The results were compared using the bilateral Z-test. Results: The results of this survey revealed that 99.5% of the surveyed farms had a health and medical prophylaxis program although only 88.5% of them reported strictly adhering to it (p

In this paper, we considered the nonlinear Schrodinger equation and applied the moment method ¨ in order to investigate the evolution of pulse parameters in nonlinear medium. This mathematical model described the effects of cubic nonlinear and the nonlinear dispersion terms on the soliton. The application of the moment method leads to variational equations that is integrated numerically by the fourth order Runge-Kutta method. The results obtained shows the variations of some important parameters of the pulse namely the energy, the pulse position, the frequency shift, the chirp and the width. It reveals the effects of the nonlinear dispersion and nonlinear cubic terms on each parameter on the pulse. The moment method is appropriate to study the dynamics of theoptical pulse in a nonlinear medium modelled by the nonlinear Schrodinger equation.

Background: Embryonic health assessment prior to delivery is not a priority in Africa due to the lack of efficient platforms for biomarker screening of defective heart or metabolic syndromes. Beside genetic mutations, some environmental, nutritional, or epigenetic events can induce abnormal protein expression impacting embryonic heart and gut developments. Among these proteins is the retinoic acid (vitamin A) inducible GATA6 which acts as transcription factor targeting the promoter of gene stimulated during placenta, embryonic heart and gut lineage specification. The objective of this study is to investigate GATA6 expression profile in placenta cells, to determine the impact of its abnormal expression on the newborn survival. Methods: Ethical approval of CER-ISBA) was obtained prior to placenta sample collection in the hospital obstetric service. Micro-fragments of placenta tissues (n=80) were collected after delivery and lysed for GATA6 analysis with immunoblot (western blot) method. Results: We observed two isoforms of GATA6 (long L and short S isoforms). All placenta lysates of living newborn expressed the type S isoform of GATA6 (n=76). In all 80 samples there is variable expression frequency for the type L isoform of GATA6. Normal expression of Type L isoform of GATA6 was observed in 63.8% of the samples; overexpression was observed in 7.5% of the samples; low expression was in 20% of them and totally lost in 8.7% of the samples. Retrospective analysis of 6 stillborn infant charts, linked 4 of them to deficient placental GATA6. Conclusion: Our preliminary data suggested that GATA6 could be used as biomarker for embryonic and newborn survival prognostic as well as for the postnatal screening of the risk to develop congenital heart diseases and metabolic syndromes during lifespan.

NPM1 mutation status and the allelic ratio (AR) of FLT3-internal tandem duplication (FLT3-ITD) are routinely tested for disease risk stratification in patients with normal karyotype (NK) acute myelogenous leukemia (AML); however, the predictive impact of immunophenotypic markers on different NPM1/FLT3 genotypes remains unclear. We performed a retrospective analysis of 423 patients with NK-AML subclassified into groups based on NPM1/FLT3 genotype. Allogeneic hematopoietic stem cell transplantation (HSCT) was performed in 124 of 423 patients (29%) and was significantly associated with longer event-free survival (EFS) and overall survival (OS), except for patients with the favorable genotype, defined as mutated NPM1 (NPM1mut) combined with normal FLT3 status (FLT3-ITDneg) or FLT3-ITD AR

Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) generally confers poor prognosis; however, the clinical outcome remains heterogeneous. We sought to further stratify this subentity of AML by performing a retrospective analysis of 179 adult patients with AML-MRC diagnosed at our institution. Based on 2016 World Health Organization diagnostic criteria, 44 (25%) patients had multilineage dysplasia alone (AML-MRC-M), 74 (41%) had history of myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative disease (AML-MRC-H), and 61 (34%) had MDS-related cytogenetics (AML-MRC-C). AML-MRC-M and hematopoietic stem cell transplantation (HSCT) were associated with prolonged event-free survival (EFS) (P = 0.0051 and P 0.0001, respectively) and overall survival (OS) (P = 0.0015 and P 0.0001, respectively), whereas AML-MRC-C and age ≥60 years were associated with shorter EFS (P = 0.028 and P = 0.015, respectively) and OS (P = 0.021 and P = 0.013, respectively). Of note, NPM1

Objectif : L’objectif de ce travail est de déterminer la qualité physico-chimique et le niveau de pollution organique du lac Nokoué soumis à une forte pression anthropique. Méthodologie et résultats : Les données ont été collectées suivant un échantillonnage saisonnier de mars 2019 à février 2021 dans 11 stations du lac. A chaque station, 9 paramètres physicochimiques ont été mesurés in-situ dans le lac et 5 sels dissouts ont été dosés au laboratoire. Les échantillons de sédiments ont été collectés au moyen d’une benne Eckman. La proportion des classes granulométrique des sables du lac Nokoué a été déterminée. L’indice de Pollution Organique et l’état trophique du lac ont été déterminés. Une Analyse en Composantes Principales a été effectuée. Les résultats de l’analyse granulométrique ont montré que les limons et argiles ainsi que les sables fins sont abondants avec des taux respectifs de 48,27% et 21,84%. Les valeurs de l’Indice de Pollution Organique ont varié dans l’ensemble des stations de 3,75 à 2, indiquant une pollution organique modérée à forte. Les résultats issus de la détermination de l’état trophique du lac ont montré que le lac est hypereutrophe. L’Analyse en Composantes Principales effectuée sur les paramètres physico-chimiques a indiqué l’accumulation de forts taux de nitrites, de phosphates, d’ammonium au niveau des stations où l’indice de pollution organique est élevé. Conclusion et application des résultats : En somme, le lac Nokoué présente une forte pollution organique. Toutefois, des études plus complètes pourront aider à disposer d’une base de données suffisante pour aider à prendre des mesures pour une gestion rationnelle et durable de cet écosystème. Ces résultats constituent une fondation pour l’élaboration d’un plan de gestion durable du lac Nokoué. English abstract Objective: To determine the physico-chemical quality and the level of organic pollution of Lake Nokoué subjected to strong anthropogenic pressure. Methodology and results: The data were collected following a seasonal sampling from March 2019 to February 2021 in 11 stations of the lake. At each station, 9 physico-chemical parameters were measured in-situ in the lake and 5 dissolved salts were assayed in the laboratory. Sediment samples were taken with an Eckman grab for particle size analysis. The proportion of the grain size classes of the sands of Lake Nokoué was determined. The Organic Pollution Index and the trophic state of the lake were determined. A Principal Component Analysis was performed. The results of the particle size analysis showed that silts and clays as well as fine sands are abundant with respective rates of 48.27% and 21.84%. Pollution Index values varied across stations from 3.75 to 2, indicating moderate to heavy organic pollution. The results from the determination of the trophic state of the lake showed that the lake is hypereutrophic. The Principal Component Analysis carried out on the physicochemical parameters indicated the accumulation of high levels of nitrites, phosphates, ammonium at the stations where the organic pollution index is high. Conclusion and application of results: In short, Lake Nokoué presents a strong organic pollution. However, more comprehensive studies may help to have a sufficient database to help take measures for a rational and sustainable management of this ecosystem. These results provide a foundation for the development of a sustainable management plan for Lake Nokoué. Keywords: south Benin, Lake Nokoue, sediments, dissolved salts, anthropogenic pressures.

Supplemental material, sj-pdf-1-aic-10.1177_0310057X221092455 for Perioperative provider safety in the pandemic: Development, implementation and evaluation of an adjunct COVID-19 Surgical Patient Checklist by Nichole E Starr Conceptualization Formal analysis Investigation Methodology Project administration Validation Writing – original draft Writing – review & editing Jolene N Moore Conceptualization Formal analysis Investigation Methodology Writing – review & editing Constance S Harrell Shreckengost Investigation Validation Writing – review & editing Katie Fernandez Formal analysis Investigation Project administration Writing – review & editing Reshma P Ambulkar Investigation Writing – review & editing Nina Capo-Chichi Conceptualization Investigation Methodology Validation Writing – review & editing John E Varallo Formal analysis Writing – review & editing Adesoji O Ademuyiwa Conceptualization Methodology Writing – review & editing Sophallyda Krouch Conceptualization Investigation Validation Writing – review & editing Pankaj Singh Rana Writing – review & editing JC Allen Ingabire Investigation Writing – review & editing Thomas G Weiser Conceptualization Formal analysis Investigation Methodology Writing – review & editing Tihitena Negussie Mammo Investigation Methodology Writing – review & editing Faye M Evans Conceptualization Formal analysis Investigation Methodology Writing – review & editing in Anaesthesia and Intensive Care

Species A rotaviruses (RVA) still play a major role in causing acute diarrhea in children under five years old worldwide. Currently, an 11-gene classification system is used to designate the full genotypic constellations of circulating strains. Viral proteins and non-structural proteins in the order VP7-VP4-VP6-VP1-VP2-VP3-NSP1-NSP2-NSP3-NSP4-NSP5/6 are represented by the genotypes Gx-P[x]-Ix-Rx-Cx-Mx-Ax-Nx-Tx-Ex-Hx, respectively. In Benin, ROTAVAC® vaccine was introduced into the Expanded Programme on Immunization in December 2019. To monitor circulating RVA strains for changes that may affect vaccine performance, in-depth analysis of strains prior to vaccine introduction are needed. Here we report, the whole-gene characterization (11 ORFs) for 72 randomly selected RVA strains of common and unusual genotypes collected in Benin from the 2016 to 2018 seasons. The sequenced strains were 15 G1P[8], 20 G2P[4], 5 G9P[8], 14 G12P[8], 9 G3P[6], 2 G1P[6], 3 G2P[6], 2 G9P[4], 1 G12P[6], and 1 G1G9P[8]/P[4]. The study strains exhibited two genetic constellations designed as Wa-like G1/G9/G12-P[6]/P[8]-I1-R1-C1-M1-A1-N1-T1-E1-H1 and DS-1-like G2/G3/G12-P[4]/P[6]-I2-R2-C2-M2-A2-N2-T2-E2-H2. Genotype G9P[4] strains possessed a DS-1-like genetic constellation with an E6 NSP4 gene, G9-P[4]-I2-R2-C2-M2-A2-N2-T2-E6-H2. The mixed genotype showed both Wa-like and DS-1-like profiles with a T6 NSP3 gene G1/G9P[8]/[4]-I1/I2-R1/R2-C1/C2-M1/M2-A1/A2-N1/N2-T1/T6-E1/E6-H1/H2. At the allelic level, the analysis of the Benin strains, reference strains (with known alleles), vaccine strains (with known alleles) identified 2-13 and 1-17 alleles for DS-1-like and Wa-like strains, respectively. Most of the study strains clustered into previously defined alleles, but we defined 3 new alleles for the VP7 (G3 = 1 new allele and G12 = 2 new alleles) and VP4 (P[4] = 1 new allele and P[6] = 2 new alleles) genes which formed the basis of the VP7 and VP4 gene clusters, respectively. For the remaining 9 genes, 0-6 new alleles were identified for both Wa-like and DS-1-like strains. This analysis of whole genome sequences of RVA strains circulating in Benin described genetic point mutations and reassortment events as well as novel alleles. Further detailed studies on these new alleles are needed and these data can also provide a baseline for studies on RVA in the post-vaccination period.

Internal tandem duplication of the Feline McDonough Sarcoma (FMS)-like tyrosine kinase 3 (

Physiotherapy as a health profession is continuously evolving in high-income countries (HIC). The highest burden of disease globally, however, is in low-resource and conflict contexts (LR-CC), resulting in unmet rehabilitation needs. Rehabilitation service models from HIC often face challenges when applied to the fragile health systems of LR-CC. It is important to engage rehabilitation experts living and working in LR-CC to guide service development. This study aims to understand physiotherapists’ views and perspectives of current rehabilitation services, of how these services can be strengthened over the next 10 years and of the role of physiotherapy within this development. Focus group discussions (FGDs) were conducted with 31 physiotherapists from 18 LR-CC using English as a common language. Audio recordings were transcribed verbatim. Data analysis was guided by thematic analysis. Participants provided deep insights into the complexity of developing rehabilitation services within fragile health systems. Participants agreed that physiotherapy lacked recognition and resources to be utilised effectively. Interacting themes as crucial prerequisites for strengthening the sector included (1) significance of context, (2) professional identity, and (3) professionalisation supported by workforce development and advocacy. These results are an important evidence base for informing the development of rehabilitation programmes in LR-CC and for future research.

Motivation Single-molecule molecular inversion probes (smMIPs) provide an exceptionally cost-effective and modular approach for routine or large-cohort next-generation sequencing. However, processing the derived raw data to generate highly accurate variants calls remains challenging. Results We introduce SmMIP-tools, a comprehensive computational method that promotes the detection of single nucleotide variants and short insertions and deletions from smMIP-based sequencing. Our approach delivered near-perfect performance when benchmarked against a set of known mutations in controlled experiments involving DNA dilutions and outperformed other commonly used computational methods for mutation detection. Comparison against clinically approved diagnostic testing of leukaemia patients demonstrated the ability to detect both previously reported variants and a set of pathogenic mutations that did not pass detection by clinical testing. Collectively, our results indicate that increased performance can be achieved when tailoring data processing and analysis to its related technology. The feasibility of using our method in research and clinical settings to benefit from low-cost smMIP technology is demonstrated. Availability and implementation The source code for SmMIP-tools, its manual and additional scripts aimed to foster large-scale data processing and analysis are all available on github (https://github.com/abelson-lab/smMIP-tools). Raw sequencing data generated in this study have been submitted to the European Genome-Phenome Archive (EGA; https://ega-archive.org) and can be accessed under accession number EGAS00001005359. Supplementary information Supplementary data are available at Bioinformatics online.