Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy.

Limb-Girdle Muscular Dystrophy (LGMD) is a myopathy with clinical and transmission heterogeneity. The recessive form, LGMD2, has been recently mapped by linkage analysis to 15q. As an attempt to identify the gene involved in this pathology, we tested as candidate gene the LD locus, called LD for limb deformity. This gene has recently been identified and mapped to chromosome 15q13-q14. It is homologous to the murine formin gene which is localized to mouse chromosome 2. Mutations in this murine gene have been shown to cause limb deformity and kidney defect. YAC clones containing the LD gene were isolated and utilised to confirm the cytogenetic localisation. Internal DNA polymorphisms of the LD locus were analyzed in LGMD2 and CEPH families. The LD gene was mapped between the alpha cardiac actin gene and the D15S24 locus. Crossovers between the LGMD2 and the LD loci excluded the LD gene as a candidate for LGMD2.     

Combined effect of Controlling Nutritional Status and Acute Kidney Injury on severe COVID-19 short-term outcomes

Introduction/ObjectivesAcute kidney injury (AKI) and malnutrition are two complications commonly reported in severe forms of COVID-19, their combined effect on short-term mortality is, however, not yet investigated. The objective of this study is to determine both their individual and combined effects on short-term prognosis.Materials and methodsThis is a prospective, uni-centric study, including 247 severe COVID-19 patients, admitted between April 25th and June 20th, 2020, at the University Hospital of Blida. AKI was defined according to the KDIGO-2012 guidelines. Nutritional status was assessed using the Controlling Nutritional Status (CONUT) score. The association with in-hospital mortality was assessed using the Kaplan-Meier method and proportional Cox regression.ResultsAmong the 247 severely affected COVID-19 patients included in this study, 34.4% developed AKI, 30.4 and 1.2%, respectively, had moderate and severe CONUT scores, 17.7% worsened and progressed to a critical state and 26.7% did not survive. Both AKI and CONUT score were significantly associated with mortality in a dose-response manner (pLog-Rank < 0.0001). Their relative risks are respectively (HR = 3.25 CI 95% [1.99–5.3] and HR = 2.42 CI 95% [1.5–3.9], p < 0.0001). In multivariate analysis, the highest risk was observed for the AKI-CONUT-high combination (HR = 3.0, 95% CI [1.5–6.1], p = 0.002).ConclusionA possible synergistic interaction between AKI and CONUT score for COVID-19 short-term mortality has been highlighted. Monitoring of renal function associated with assessment of nutritional status should be performed routinely and systematically from the early stages of admission.     

Tensile Behavior of High-Strength,Strain-Hardening Cement-Based Composites (HS-SHCC) Reinforced with Continuous Textile Made of Ultra-High-Molecular-Weight Polyethylene

The paper at hand presents an investigation of the tensile behavior of high-strength, strain-hardening cement-based composites (HS-SHCC), reinforced with a single layer of continuous, two-dimensional textile made of ultra-high molecular weight polyethylene (UHMWPE). Uniaxial tension tests were performed on the bare UHMWPE textiles, on plain HS-SHCC, and on the hybrid fiber-reinforced composites. The bond properties between the textile yarns and the surrounding composite were investigated in single-yarn pullout experiments. In order to assess the influence of bond strength between the yarn and HS-SHCC on the tensile behavior of the composites with hybrid fiber reinforcement, the textile samples were analyzed both with, and without, an additional coating of epoxy resin and sand. Compared to the composites reinforced with carbon yarns in previous studies by the authors, the high elongation capacity of the UHMWPE textile established the higher strain capacity of the hybrid fiber-reinforced composites, and showed superior energy absorption capacity up to failure. The UHMWPE textile limited the average crack width in comparison with that of plain HS-SHCC, but led to slightly larger crack widths when compared to equivalent composites reinforced with carbon textile, the reason for which was traced back to the lower Young’s modulus and the higher elongation capacity of the polymer textile.