A novel homozygous missense variant in MATN3 causes spondylo- epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family

Peer reviewe

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

Cognitive Relay Networks: A Comprehensive Survey

Cognitive radio is an emerging technology to deal with the scarcity and requirement of radio spectrum by dynamically assigning spectrum to unlicensed user . This revolutionary technology shifts the paradigm in the wireless system design by all owing unlicensed user the ability to sense, adapt and share the dynamic spectrum. Cognitive radio technology have been applied to different networks and applications ranging from wireless to public saf ety, smart grid, medical, rela y and cellular applications to increase the throughput and spectrum efficiency of the network. Among these applications, cognitive relay networks is one of the application where cognitive radio technology has been applied. Cognitiv e rela y network increases the network throughput by reducing the complete pa th loss and also by ensuring cooper ation among secondary users and cooperation among primary and secondary users. In this paper , our aim is to provide a survey on cognitive relay network. We also provide a detailed review on existing schemes in cognitive relay networks on the basis of relaying protocol, relay cooperation and channel model

Dengue and malaria infections in pregnancy: Maternal, fetal and neonatal outcomes at a tertiary care hospital

Background: Malaria and dengue cause major morbidity in developing nations and are more severe in pregnancy. Maternal, fetal, and neonatal outcomes in pregnant patients infected with dengue or malaria were studied.Methods: The medical records of pregnant women admitted with either dengue or malaria infections from 2011-2015 to this hospital were reviewed. Clinical outcomes and laboratory tests were examined.Results: Of 85 women, 56%, 21%, and 22% had contracted dengue, malaria, and multiple infections, respectively. Pregnant women who had contracted dengue fever alone were more likely to present to the hospital at an earlier gestational age (24 weeks, p = 0.03). Women with multiple infections, were more likely to deliver earlier (30 weeks, p \u3c 0.01). Women with malaria were more likely to have low birth weight deliveries (mean birth weight 2394 g, p = 0.03). The incidence of in-hospital deaths among the cohort was 7%.Conclusion: It is imperative to develop guidelines to screen for and diagnose dengue and malaria in pregnancy

New fossils of Gaindatherium (Rhinocerotidae, Mammalia) from the Middle Miocene of Pakistan

New isolated teeth with maxillary and mandibular fragments from the Chinji Formation of the Lower Siwaliks are described and determined as Gaindatherium browni and Gaindatherium vidali. This material comes from the Middle Miocene of Lava and Dhok Bun Ameer Khatoon localities, northern Pakistan, and significantly increases the number of remains previously known for this rhinocerotid genus. Specimens from the Lava site determined as G. vidali present morphological differences with respect to those of G. browni, being similar to those of G. vidali from the Nagri Formation, showing a greater size. Previously, G. vidali was reported only from the Nagri Formation of the Middle Siwaliks and the new material thus significantly widens the chronological distribution of this species in the continental deposits of the Siwaliks. This record implies that both species are not successive but rather coeval during the late Middle Miocene.Fil: Khan, Abdul Majid. University of the Punjab; PakistánFil: Cerdeño Serrano, Maria Esperanza. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto Argentino de Nivología, Glaciología y Ciencias Ambientales. Provincia de Mendoza. Instituto Argentino de Nivología, Glaciología y Ciencias Ambientales. Universidad Nacional de Cuyo. Instituto Argentino de Nivología, Glaciología y Ciencias Ambientales; ArgentinaFil: Akhtar, Muhammad. University of the Punjab; PakistánFil: Akbar Khan, Muhammad. University of the Punjab; PakistánFil: Iqbal, Ayesha. University of the Punjab; PakistánFil: Mubashir, Muhammad. Government College University Faisalabad; Pakistá

Immunoinformatic and reverse vaccinology-based designing of potent multi-epitope vaccine against Marburgvirus targeting the glycoprotein

Marburg virus (MARV) has been a major concern since its first outbreak in 1967. Although the deadly BSL-4 pathogen has been reported in few individuals with sporadic outbreaks following 1967, its rarity commensurate the degree of disease severity. The virus has been known to cause extreme hemorrhagic fever presenting flu-like symptoms (as implicated in COVID-19) with a 90% case fatality rate (CFR). After a number of plausible evidences, it has been observed that the virus usually originates from African fruit bat, Rousettus aegyptiacus, who themselves do not indicate any signs of illness. Thus, efforts have been made in the recent years for a universal treatment of the infection, but till date, no such vaccine or therapeutics could circumvent the viral pathogenicity. In an attempt to formulate a vaccine design computationally, we have explored the entire proteome of the virus and found a strong correlation of its glycoprotein (GP) in receptor binding and subsequent role in infection progression. The present study, explores the MARV glycoprotein GP1 and GP2 domains for quality epitopes to elicit an extended immune response design potential vaccine construct using appropriate linkers and adjuvants. Finally, the chimeric vaccine wass evaluated for its binding affinity towards the receptors via molecular docking and molecular dynamics simulation studies. The rare, yet deadly zoonotic infection with mild outbreaks in recent years has flustered an alarming future with various challenges in terms of viral diseases. Thus, our study has aimed to provide novel insights to design potential vaccines by using the predictive framework

Incorporating patient safety and quality into the medical school curriculum: An assessment of student gains

Background: Global efforts are being made to improve health care standards and the quality of care provided. It has been shown through research that the introduction of patient safety (PS) and quality improvement (QI) concepts in the medical curriculum prepares medical students to face future challenges in their professional careers.Purpose: This study aimed to evaluate how a brief course on QI and PS affects the knowledge, efficacy, and system thinking of medical students.Methods: A 5-day QI and PS intervention course was implemented at the Aga Khan University medical college for 98 third-year medical students in March 2021. This weeklong course of lectures, interactive sessions, and hands-on skill workshops was conducted before the students began their clinical rotations. Students\u27 knowledge, self-efficacy, and system thinking were assessed with pretest and posttest. Students were also asked to write personal reflections and fill out a satisfaction survey at the end of the intervention.Results: Comparisons of pretest and posttest scores showed that the course significantly improved students\u27 knowledge by a mean of 2.92 points (95% confidence interval, 2.30-3.53; P \u3c 0.001) and system thinking by 0.16 points (95% confidence interval, 0.03-0.29; P = 0.018) of the maximum scores of 20 and 5 points, respectively. The students\u27 self-assessment of PS knowledge also reflected statistically significant increases in all 9 domains (P \u3c 0.001). Students reported positive experiences with this course in their personal reflections.Conclusions: The medical students exhibited increases in knowledge, self-efficacy, and system thinking after this weeklong intervention. The design of the course can be modified as needed and implemented at other institutions in low- and middle-income countries. A targeted long-term assessment of knowledge and attitudes is needed to fully evaluate the impact of this course

Root and Root Canal Morphology Classification Systems

Introduction. While there are many root morphology classification systems with their own distinct advantages, there are many shortcomings that come along with each system. Objectives. The aim of this review was to compare the various root and root canal morphology classifications, their advantages, limitations, and clinical and research implications. Data Sources and Selection. An extensive literature search was conducted on PubMed and Scopus to identify the published data on root and root canal classification systems published until 1 May 2020 using keywords, root canal classification system, classification systems for root canals, and root morphology. The related literature was reviewed and then summarized. Data Synthesis. Several studies have analysed and detailed root and root canal classifications and further added new subsystems, works of Weine et al. (1969) and Vertucci et al. (1974). Besides, Sert and Bayirli (2004) added supplementary types to Vertucci’s classification system. A new classification was most recently introduced by Ahmed et al. (2017) involving the use of codes for tooth numbering, number of roots, and canal configuration. Conclusions. Weine et al. classified only single-rooted teeth, without considering multirooted teeth and complex configurations. Vertucci’s classification included complex configurations, with Sert and Bayirli adding further complex supplemental types. Ahmed et al.’s classification simplifies classifying root and canal morphology while overcoming the limitations of several previous classification systems making it beneficial for implementation in dental schools