BackgroundMiddle Eastern Respiratory Syndrome coronavirus (MERS-CoV) is a poorly understood disease with no known treatments. We describe the clinical features and treatment outcomes of patients with laboratory confirmed MERS-CoV at a regional referral center in the Kingdom of Saudi Arabia.MethodsIn 2014, a retrospective chart review was performed on patients with a laboratory confirmed diagnosis of MERS-CoV to determine clinical and treatment characteristics associated with death. Confounding was evaluated and a multivariate logistic regression was performed to assess the independent effect of treatments administered.ResultsFifty-one patients had an overall mortality of 37 %. Most patients were male (78 %) with a mean age of 54 years. Almost a quarter of the patients were healthcare workers (23.5 %) and 41 % had a known exposure to another person with MERS-CoV. Survival was associated with male gender, working as a healthcare worker, history of hypertension, vomiting on admission, elevated respiratory rate, abnormal lung exam, elevated alanine transaminase (ALT), clearance of MERS-CoV on repeat PCR polymerase chain reaction (PCR) testing, and mycophenolate mofetil treatment. Survival was reduced in the presence of coronary artery disease, hypotension, hypoxemia, CXR (chest X-ray) abnormalities, leukocytosis, creatinine >1 · 5 mg/dL, thrombocytopenia, anemia, and renal failure. In a multivariate analysis of treatments administered, severity of illness was the greatest predictor of reduced survival.ConclusionsCare for patients with MERS-CoV remains a challenge. In this retrospective cohort, interferon beta and mycophenolate mofetil treatment were predictors of increased survival in the univariate analysis. Severity of illness was the greatest predictor of reduced survival in the multivariate analysis. Larger randomized trials are needed to better evaluate the efficacy of these treatment regimens for MERS-CoV.

This study aimed to assess the baseline characteristics and clinical outcomes of coronavirus disease 2019 (COVID-19) in patients with rheumatic diseases and identify the risk factors associated with severe COVID-19 pneumonia. This was a retrospective study in a tertiary care center conducted through the period between March 2020 and November 2020 and included all adult patients with rheumatic diseases who tested positive on the COVID-19 polymerase chain reaction (PCR) test. We assessed the patients’ demographic data, history of rheumatic disease, COVID-19 symptoms and experimental treatment, if any, their disease course, and outcome. In all, 47 patients were included, and most were females. The commonest rheumatic diseases were rheumatoid arthritis (53.2%), followed by systemic lupus erythematosus (21.3%), and psoriatic arthritis (10.6%). Methotrexate and hydroxychloroquine were the most commonly used disease-modifying anti-rheumatic drugs in 36.1% and 25.5%, respectively. Out of 47 patients, 48.9% required hospitalization with a median hospital stay of 7 days. Severe COVID-19 pneumonia, defined as clinical signs of pneumonia plus one of the following: respiratory rate > 30 bpm, severe respiratory distress, or oxygen saturation < 90% in room air was observed in 19.1% of the patients, and one patient died. We found that elderly patients with a mean age of 65.3 years were more likely to develop severe COVID-19 pneumonia and that was statistically significant. Our study showed that elderly patients with a mean age of 65 years and having rheumatic diseases had an increased risk of hospital admission and development of severe COVID-19 pneumonia.

BackgroundMutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency.Case presentationWe report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism. There were associated abnormalities in the external genitalia in form of bifid scrotum, bilateral undescended testicles, microphallus and scrotal hypospadias which might be a coincidental finding.ConclusionsWe suggest that infants with neonatal diabetes associated with dysmorphism should be screened for GLIS3 gene mutations.

BackgroundOne of the most serious sequelae of femoral neck fractures (FNFs) is avascular necrosis (AVN), and this complication translates to significant morbidity and mortality. This study was conducted to determine the relationship between the etiologies and management of FNFs at our institution and the development of AVN or nonunion.Materials and methodsThis study was a retrospective medical chart review of all adult patients admitted and managed for FNF.ResultsThere were a total of 69 FNF patients reviewed. FNF was caused by a fall in 37 patients (53.6%), a road traffic accident in 16 (23.2%), motorcycle and motorbike accidents in 8 (11.6%), and heavy exercise in 8 (11.6%). Twenty-four patients (34.8%) had fixation within 24 h of injury, and 45 (65.2%) went more than 24 h before fixation. The mean RUSH score at 6 months was 21.4 ± 5.1. There were 4 patients (5.8%) with a collapsed FNF and 4 patients (5.8%) had a nonunion FNF. AVN was documented in 12 patients (17.4%). Of the 12 patients who had AVN, 8 (66.7%) received fixation within 24 h from the time of the injury, whereas only 4 (33.3%) received fixation more than 24 h after the injury. There was a significant negative correlation between the time of fixation and AVN.ConclusionWe report a 17.4% incidence of AVN over 10 years in patients managed with FNF. AVN was found to be significantly correlated with the mode of injury (fall and RTA among younger male patients).

Introduction: Urinary tract infection (UTI) is a common disorder in childhood. Early identification and appropriate antibiotic use are essential to avoid long-term sequels. The trial objective was to identify the prevalence of URI in children, and the risk factors. Methods: This is an analytical cross-sectional study conducted in the Saudi Arabia, from April 4th 2020 till July 30th 2020. The sample was randomly selected from children who presented to the ministry of health tertiary hospitals. People answered a questionnaire of 10 items. Results: 1083 people participated in the current trial. The prevalence of UTI was 25.8%. The mean age was 4.5-5 years. UTI was commoner in females than males. Urethritis was the main presenting complaint. Western region was the commonest identified area. Those with multivitamin deficiency had the highest prevalence. Conclusion: UTI is not a very common problem for children in Saudi Arabia. Western region had the highest prevalence and the peak age ranged from 4.5 to 5 years. Additionally, nearly a sixth of children could develop severe/complicated UTI.

IntroductionNon-invasive ventilation (NIV) delivered by helmet has been used for respiratory support of patients with acute hypoxaemic respiratory failure due to COVID-19 pneumonia. The aim of this study was to compare helmet NIV with usual care versus usual care alone to reduce mortality.Methods and analysisThis is a multicentre, pragmatic, parallel randomised controlled trial that compares helmet NIV with usual care to usual care alone in a 1:1 ratio. A total of 320 patients will be enrolled in this study. The primary outcome is 28-day all-cause mortality. The primary outcome will be compared between the two study groups in the intention-to-treat and per-protocol cohorts. An interim analysis will be conducted for both safety and effectiveness.Ethics and disseminationApprovals are obtained from the institutional review boards of each participating institution. Our findings will be published in peer-reviewed journals and presented at relevant conferences and meetings.Trial registration numberNCT04477668.

Background: Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due to the small number of reported cases. Methods: Thirty patients diagnosed with THES, all molecularly confirmed by whole exome sequencing (WES) to have biallelic variants in TTC37 or SKIV2L , were included in the study. Clinical, biochemical, and nutritional phenotypes and outcome data were collected from all participants. Results: The median age of THES patients was 3.7 years (0.9–23 years). Diarrhea and malnutrition were the most common clinical features (100%). Other common features included hair abnormalities (96%), skin hyperpigmentation (87%), facial dysmorphic abnormalities (73%), psychomotor retardation (57%), and hepatic abnormalities (30%). Twenty-five patients required parenteral nutrition (83%) with a mean duration of 13.34 months, and nearly half were eventually weaned off. Parenteral nutrition was associated with a poor prognosis. The vast majority of cases (89.6%) had biallelic variants in SKIV2L , with biallelic variants in TTC37 accounting for the remaining cases. A total of seven variants were identified in TTC37 ( n = 3) and SKIV2L ( n = 4). The underlying genotype influenced some phenotypic aspects, especially liver involvement, which was more common in TTC37 -related THES. Conclusion: Our data helps define the natural history of THES and provide clinical management guidelines.

Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal growth retardation with marked microcephaly. However, it includes characteristic skeletal dysplasia, abnormal dentition and increased risk for cerebrovascular diseases. Recent reports added more features, including café-au-lait lesions, cutis marmorata, astigmatism, Moyamoya disease, insulin resistance, obesity, abnormal skin pigmentation and acanthosis nigricans around the neck. Clearly, the more MOPDII reports that are produced, the more information will be added to the spectrum of MOPDII features that can improve our understanding of this disorder. In this paper, we reported a new case of MOPDII with more severe clinical features, earlier onset of common features, in addition to a homozygous novel variant in the PCNT gene.