Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled skin, osteopenia and mental retardation. Homozygosity mapping in several kindreds with ARCL identified a candidate region on chromosome 17q25. By high-throughput sequencing of the entire candidate region, we detected disease-causing mutations in the gene PYCR1. We found that the gene product, an enzyme involved in proline metabolism, localizes to mitochondria. Altered mitochondrial morphology, membrane potential and increased apoptosis rate upon oxidative stress were evident in fibroblasts from affected individuals. Knockdown of the orthologous genes in Xenopus and zebrafish led to epidermal hypoplasia and blistering that was accompanied by a massive increase of apoptosis. Our findings link mutations in PYCR1 to altered mitochondrial function and progeroid changes in connective tissues.

Background Antibiotic resistance became a marker of irrational and overuse of these medicines in many countries. This study aims to evaluate the knowledge, attitude and practice (KAP) of medical students (MS) and non-medical students (NS) towards antibiotic use in the United Arabs Emirates (UAE). Method A descriptive cross-sectional study was conducted amongst 1200 MS and NS from Ajman University in UAE. A self-administered questionnaire was used to assess the knowledge, attitude and practice of antibiotic use. The later was composed into knowledge, attitude and practice of antibiotic use. Descriptive analysis was used to analyse the qualitative variables while quantitative variables were summarised using mean ± Standard Deviation (±SD). A Chi-square test was used to compare differences in the proportions of qualitative variables. Unpaired student’s t-test was used to test the average differences in quantitative variables across medical and non-medical students. A p < 0.05 was considered statistically significant. Results One thousand two hundred students (MS: 600 and NS: 600) were considered valid for analysis. On average, participants scored higher in attitude score followed by knowledge and practice scores. The average attitude score was 76% (95% CI: [75, 78%]) compared to 59% for knowledge (95% CI: [58, 60%]) and 45% (95% CI: [44, 47%]) for practice. The results suggest that overall, medical students scored remarkably better than non-medical students on KAP of antibiotic use, respectively ( p = 0.0001), (p = 0.000) and ( p = 0.002). Conclusion The students’ knowledge, attitude and practice regarding antibiotic use, which drive the practice of self-medication, reflect a gap in medical curricula in UAE institutes and medical colleges.

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There are serious concerns with rising antimicrobial resistance (AMR) across countries increasing morbidity, mortality and costs. These concerns have resulted in a plethora of initiatives globally and nationally including national action plans (NAPs) to reduce AMR. Africa is no exception, especially with the highest rates of AMR globally. Key activities in NAPs include gaining a greater understanding of current antimicrobial utilization patterns through point prevalence surveys (PPS) and subsequently instigating antimicrobial stewardship programs (ASPs). Consequently, there is a need to comprehensively document current utilization patterns among hospitals across Africa coupled with ASP studies. In total, 33 PPS studies ranging from single up to 18 hospitals were documented from a narrative review with typically over 50% of in-patients prescribed antimicrobials, up to 97.6% in Nigeria. The penicillins, ceftriaxone and metronidazole, were the most prescribed antibiotics. Appreciable extended prescribing of antibiotics up to 6 days or more post-operatively was seen across Africa to prevent surgical site infections. At least 19 ASPs have been instigated across Africa in recent years to improve future prescribing utilizing a range of prescribing indicators. The various findings resulted in a range of suggested activities that key stakeholders, including governments and healthcare professionals, should undertake in the short, medium and long term to improve future antimicrobial prescribing and reduce AMR across Africa.