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.