Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

Purpose: To investigate the molecular basis of retinitis pigmentosa in two consanguineous families of Pakistani origin with multiple affected members. Methods: Homozygosity mapping and Sanger sequencing of candidate genes were performed in one family while the other was analyzed with whole exome next-generation sequencing. A minigene splicing assay was used to confirm the splicing defects. Results: In family MA48, a novel homozygous nucleotide substitution in C8orf37, c.244–2A>C, that disrupted the consensus splice acceptor site of exon 3 was found. The minigene splicing assay revealed that this mutation activated a cryptic splice site within exon 3, causing a 22 bp deletion in the transcript that is predicted to lead to a frameshift followed by premature protein truncation. In family MA13, a novel homozygous null mutation in C8orf37, c.555G>A, p.W185*, was identified. Both mutations segregated with the disease phenotype as expected in a recessive manner and were absent in 8,244 unrelated individuals of South Asian origin. Conclusions: In this report, we describe C8orf37 mutations that cause retinal dystrophy in two families of Pakistani origin, contributing further data on the phenotype and the spectrum of mutations in this form of retinitis pigmentosa

The rank reversal problem in multi-criteria decision making : a literature review

Despite the importance of multicriteria decision-making (MCDM) techniques for constructing effective decision models, there are many criticisms due to the occurrence of a problem called rank reversal. Nevertheless, there is a lack of a systematic literature review on this important subject which involves different methods. This study reviews the pertinent literature on rank reversal, based on 130 related articles published from 1980 to 2015 in international journals, which were gathered and analyzed according to the following perspectives: multicriteria technique, year and journal in which the papers were published, co-authorship network, rank reversal types, and research goal. Thus our survey provides recommendations for future research, besides useful information and knowledge regarding rank reversal in the MCDM field

General anaesthetic and airway management practice for obstetric surgery in England: a prospective, multi-centre observational study

There are no current descriptions of general anaesthesia characteristics for obstetric surgery, despite recent changes to patient baseline characteristics and airway management guidelines. This analysis of data from the direct reporting of awareness in maternity patients' (DREAMY) study of accidental awareness during obstetric anaesthesia aimed to describe practice for obstetric general anaesthesia in England and compare with earlier surveys and best-practice recommendations. Consenting patients who received general anaesthesia for obstetric surgery in 72 hospitals from May 2017 to August 2018 were included. Baseline characteristics, airway management, anaesthetic techniques and major complications were collected. Descriptive analysis, binary logistic regression modelling and comparisons with earlier data were conducted. Data were collected from 3117 procedures, including 2554 (81.9%) caesarean deliveries. Thiopental was the induction drug in 1649 (52.9%) patients, compared with propofol in 1419 (45.5%). Suxamethonium was the neuromuscular blocking drug for tracheal intubation in 2631 (86.1%), compared with rocuronium in 367 (11.8%). Difficult tracheal intubation was reported in 1 in 19 (95%CI 1 in 16-22) and failed intubation in 1 in 312 (95%CI 1 in 169-667). Obese patients were over-represented compared with national baselines and associated with difficult, but not failed intubation. There was more evidence of change in practice for induction drugs (increased use of propofol) than neuromuscular blocking drugs (suxamethonium remains the most popular). There was evidence of improvement in practice, with increased monitoring and reversal of neuromuscular blockade (although this remains suboptimal). Despite a high risk of difficult intubation in this population, videolaryngoscopy was rarely used (1.9%)

Efficacy of Evidence Based Care on Care Quality of Mother and Infant in 3 Teaching Hospitals: A Protocol

Introduction: Reducing infant mortality rate during delivery is a priority in the world. Even with the existing activities that take place in hospitals, due to a lack of simple and effective methods, this mortality reduction trend is slow. The objects of this study were to apply and investigate the effects of WHO evidence-based guidelines for safe delivery on the quality of maternal and neonatal support. Materials and Methods: This is a semi-experimental study with external control. After forward and backward translation of WHO safe childbirth checklist, in an expert meeting irrelevant/infeasible items in the checklist were omitted or modified. Personnel performance on checklist items was evaluated by researchers who were present in the whole period of mother and neonate hospitalization in two phases. Intervention was done in two hospitals and one hospital was considered as control. At first, the instructions were provided for all the collaborating personnel in forms of pamphlets, posters and booklets and after two weeks second phase began by arranging an educational session for personnel. The data of these two phases is being compared. Discussion: If our prior assumption be proved, we anticipate improvements in some items of checklist .Some of these items are skin contact, breast feeding rate in first hour postpartum, hand hygiene, and mother's knowledge regarding the parturition during the time in which they are hospitalized together with a decrease in episiotomy infection/dehiscence prevalence. These changes can be regarded as an overall promotion in maternal/neonatal support