Cross-cultural adaptation and validation of the Italian version of the Western Ontario Osteoarthritis of the Shoulder index (WOOS)

Background: The Western Ontario Osteoarthritis of the Shoulder index (WOOS) has been introduced as a disease-specific quality of life measurement in patients with glenohumeral arthritis. The aim of the present study was to perform a cross-cultural adaptation of the English version of the WOOS to Italian and to assess its validity, reliability and responsiveness in patients with glenohumeral joint osteoarthritis treated conservatively. Material and methods: The adaptation process was carried out following the simplified Guillemin criteria. The English version was translated into Italian by two bilingual orthopaedic surgeons and then translated back into English by two different bilingual orthopaedic surgeons. The original version was compared with the back-translation. The questionnaire was prospectively administered to 30 patients with glenohumeral osteoarthritis at baseline and again after 5 days for retest reliability. After 6 months of conservative treatment, the responsiveness of the questionnaire was assessed in a subsample of 20 patients. The level of statistical significance was set at 0.05. Results: The interclass correlation coefficient between test and retest of the WOOS was 0.99 (P < 0.001). Pearson’s correlation coefficient between the WOOS and disability of the arm, shoulder and hand (DASH) preoperatively was 0.73 (P < 0.01) and the correlation between the changes of score for the WOOS and DASH was 0.75 (P < 0.01). There were no floor or ceiling effects. Responsiveness, calculated by standardized response mean, was 1.1 and effect size was 1.3. Conclusions: The Italian version of the WOOS questionnaire has shown to be equivalent to its English version and demonstrated good validity, reliability and responsiveness to conservative treatment of glenohumeral osteoarthritis. Level of evidence: Level II

Hybrid coracoclavicular and acromioclavicular reconstruction in chronic acromioclavicular joint dislocations yields good functional and radiographic results

Purpose Optimal treatment of chronic unstable acromioclavicular (AC) joint dislocations (stage 3-5 according the Rockwood classification) is still debated. Anatomic coracoclavicular (CC) reconstruction is a reliable option in terms of two-dimensional radiographic reduction, clinical outcomes, and return to sports, but there remain concerns regarding anterior-posterior stability of the AC joint with CC ligament reconstruction alone. The aim of the present study was to describe the mid-term results of a new hybrid technique with CC and AC ligament reconstruction for chronic AC joint dislocations. Methods Twenty-two patients surgically treated for chronic AC joint dislocations (grade 3 to 5) were retrospectively reviewed. All patients were assessed before surgery and at final follow-up with the Constant-Murley score (CMS) and the American Shoulder and Elbow Surgeons (ASES) score. The CC vertical distance (CCD) and the CCD ratio (affected side compared to unaffected side) were measured on Zanca radiographs preoperatively, at 6 months postop and at final follow-up. The same surgical technique consisting in a primary fixation with a suspensory system, coracoclavicular ligaments reconstruction with a double loop of autologous gracilis and acromioclavicular ligaments reconstruction with autologous coracoacromial ligament was performed in all cases. Results Twenty-two shoulders in 22 patients (19 males and 3 females) were evaluated with a mean age of 34.4 +/- 9 years at the time of surgery. The mean interval between the injury and surgery was 53.4 +/- 36.7 days. The mean duration of postoperative follow-up was 49.9 +/- 11.8 months. According to the Rockwood classification, there were 5 (22.6%) type-III and 17 (77.2%) type-V dislocations. Mean preoperative ASES and CMS were 54.4 +/- 7.6 and 64.6 +/- 7.2, respectively. They improved to 91.8 +/- 2.3 (p = 0.0001) and 95.2 +/- 3.1 (p = 0.0001), respectively at final FU. The mean preoperative CCD was 22.4 +/- 3.2 mm while the mean CCD ratio was 2.1 +/- 0.1. At final FU, the mean CCD was 11.9 +/- 1.4 mm (p = 0.002) and the mean CCD ratio was 1.1 +/- 0.1 (p = 0.009). No recurrence of instability was observed. One patient developed a local infection and four patients referred some shoulder discomfort. Heterotopic ossifications were observed in three patients. Conclusions The optimal treatment of chronic high-grade AC joint dislocations requires superior-inferior and anterior-posterior stability to ensure good clinical outcomes and return to overhead activities or sports. The present hybrid technique of AC and CC ligaments reconstruction showed good clinical and radiographic results and is a reliable an alternative to other reported techniques

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716 individuals. Twelve loci reached genome-wide significance (P<5 × 10−8), of which eight were previously associated with increased overall adiposity (BMI, BF%) and four (in or near COBLL1/GRB14, IGF2BP1, PLA2G6, CRTC1) were novel associations with BF%. Seven loci showed a larger effect on BF% than on BMI, suggestive of a primary association with adiposity, while five loci showed larger effects on BMI than on BF%, suggesting association with both fat and lean mass. In particular, the loci more strongly associated with BF% showed distinct cross-phenotype association signatures with a range of cardiometabolic traits revealing new insights in the link between adiposity and disease risk

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

Optimasi Portofolio Resiko Menggunakan Model Markowitz MVO Dikaitkan dengan Keterbatasan Manusia dalam Memprediksi Masa Depan dalam Perspektif Al-Qur`an

Risk portfolio on modern finance has become increasingly technical, requiring the use of sophisticated mathematical tools in both research and practice. Since companies cannot insure themselves completely against risk, as human incompetence in predicting the future precisely that written in Al-Quran surah Luqman verse 34, they have to manage it to yield an optimal portfolio. The objective here is to minimize the variance among all portfolios, or alternatively, to maximize expected return among all portfolios that has at least a certain expected return. Furthermore, this study focuses on optimizing risk portfolio so called Markowitz MVO (Mean-Variance Optimization). Some theoretical frameworks for analysis are arithmetic mean, geometric mean, variance, covariance, linear programming, and quadratic programming. Moreover, finding a minimum variance portfolio produces a convex quadratic programming, that is minimizing the objective function ðð¥with constraintsð ð 𥠥 ðandð´ð¥ = ð. The outcome of this research is the solution of optimal risk portofolio in some investments that could be finished smoothly using MATLAB R2007b software together with its graphic analysis

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Search for heavy resonances decaying to two Higgs bosons in final states containing four b quarks

A search is presented for narrow heavy resonances X decaying into pairs of Higgs bosons (H) in proton-proton collisions collected by the CMS experiment at the LHC at root s = 8 TeV. The data correspond to an integrated luminosity of 19.7 fb(-1). The search considers HH resonances with masses between 1 and 3 TeV, having final states of two b quark pairs. Each Higgs boson is produced with large momentum, and the hadronization products of the pair of b quarks can usually be reconstructed as single large jets. The background from multijet and t (t) over bar events is significantly reduced by applying requirements related to the flavor of the jet, its mass, and its substructure. The signal would be identified as a peak on top of the dijet invariant mass spectrum of the remaining background events. No evidence is observed for such a signal. Upper limits obtained at 95 confidence level for the product of the production cross section and branching fraction sigma(gg -> X) B(X -> HH -> b (b) over barb (b) over bar) range from 10 to 1.5 fb for the mass of X from 1.15 to 2.0 TeV, significantly extending previous searches. For a warped extra dimension theory with amass scale Lambda(R) = 1 TeV, the data exclude radion scalar masses between 1.15 and 1.55 TeV

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. The Boolean features selected by these logistic models were combined into an Integrated PolyGenic Score that offers a synthetic and interpretable index for describing the contribution of host genetics in COVID-19 severity, as demonstrated through testing in several independent cohorts. Selected features belong to ultra-rare, rare, low-frequency, and common variants, including those in linkage disequilibrium with known GWAS loci. Noteworthily, around one quarter of the selected genes are sex-specific. Pathway analysis of the selected genes associated with COVID-19 severity reflected the multi-organ nature of the disease. The proposed model might provide useful information for developing diagnostics and therapeutics, while also being able to guide bedside disease management. © 2021, The Author(s)