Yangzacho8622

You are seeing an 11-year-old boy in a general paediatric clinic referred with short stature. His height is below the 0.4th centile. The mid-parental height is on 50th centile. Baseline investigations, including renal and liver function, coeliac screen and thyroid function tests are normal. You have a suspicion of growth hormone deficiency. Should you check an insulin-like growth factor-1 level or proceed with a growth hormone provocation test? The current paper will aim to give an overview of these tests and factors to consider when interpreting the results. © Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.Rheumatology teams care for patients with diverse, systemic autoimmune diseases who are often immunosuppressed and at high risk of infections. The current COVID-19 pandemic has presented particular challenges in caring for and managing this patient group. The office of the chief medical officer (CMO) for England contacted the rheumatology community to provide expert advice on the identification of extremely vulnerable patients at very high risk during the COVID-19 pandemic who should be 'shielded'. This involves the patients being asked to strictly self-isolate for at least 12 weeks with additional funded support provided for them to remain at home. A group of rheumatologists (the authors) have devised a pragmatic guide to identifying the very highest risk group using a rapidly developed scoring system which went live simultaneous with the Government announcement on shielding and was cascaded to all rheumatologists working in England. © Royal College of Physicians 2020. All rights reserved.A 40-year-old man developed acute brainstem dysfunction 3 days after hospital admission with symptoms of the novel SARS-CoV-2 infection (COVID-19). Magnetic resonance imaging showed changes in keeping with inflammation of the brainstem and the upper cervical cord, leading to a diagnosis of rhombencephalitis. No other cause explained the patient's abnormal neurological findings. He was managed conservatively with rapid spontaneous improvement in some of his neurological signs and was discharged home with continued neurology follow up. © Royal College of Physicians 2020. All rights reserved.The coronavirus disease (COVID-19) outbreak caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was first reported in Wuhan, China, in late 2019 and has affected more than 1 270 000 people worldwide. The numbers of reported cases continue to rise and threaten global health. Transmissions among family members are frequently observed, although the route of transmission is partially known. Here we report three cases of SARS-CoV-2 infection within one family. Sequencing of the S gene of the viral genome showed 100% identity among samples, suggesting that the same strain caused the infection. Following treatment with oseltamivir and short-term methylprednisolone combined with symptomatic management, all three patients recovered within 3 weeks, as evidenced by the disappearance of their symptoms, clearance of pulmonary infiltrates and consecutive negative molecular diagnostic test findings. Our observations suggest the importance of preventing family transmission and the efficacy of current integrated treatment for mild/moderate pneumonia in COVID-19 cases. © BMJ Publishing Group Limited 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.Acquired haemophilia A is a rare but important diagnosis, carrying a mortality rate of 22%. Life-threatening sequalae of this diagnosis includes airway compromise, which can rapidly lead to demise of the patient if left untreated. Our case examines an 80-year-old man presenting with a supraglottic haematoma resulting from acquired haemophilia A causing airway compromise and necessitating definitive airway control. A review of current understanding and management of the disease is also ddiscussed. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.Exome sequencing (ES) has become an important tool in pediatric genomic medicine, improving identification of disease-associated variation due to assay breadth. Depth is also afforded by ES, enabling detection of lower frequency mosaic variation compared to Sanger sequencing in the studied tissue, thus enhancing diagnostic yield. Within a pediatric tertiary care hospital, we report two years of clinical ES data from probands evaluated for genetic disease to assess diagnostic yield, characteristics of causal variants, and prevalence of mosaicism amongst disease-causing variants. Exome derived, phenotype-driven variant data from 357 probands was analyzed concurrent with parental ES data, where available. Blood was the source of nucleic acid. Sequence read alignments were manually reviewed for all assessed variants. Sanger sequencing was employed for suspected de novo or mosaic variation. Clinical provider notes were reviewed to determine concordance between laboratory-reported data and the ordering provider's interpretation of variant-associated disease causality. Laboratory-derived diagnostic yield and provider-substantiated diagnoses had 91.4% concordance. The cohort returned 117 provider-substantiated diagnoses among 115 probands for a diagnostic yield of 32.2%. De novo variants represented 63.9% of disease-associated variation within trio analyses. Among the 115 probands, 5 harbored disease-associated somatic mosaic variation. Two additional probands were observed to inherit a disease-associated variant from an unaffected mosaic parent. Among inheritance patterns, de novo variation was the most frequent disease etiology. see more Somatic mosaicism is increasingly recognized as a significant contributor to genetic disease, particularly with increased sequence depth attainable from ES. This report highlights the potential and importance of detecting mosaicism in ES. Cold Spring Harbor Laboratory Press.BACKGROUND/AIMS To identify factors that influence the diagnostic performance of circumpapillary retinal nerve fibre layer (RNFL) thickness measurements in the detection of primary open-angle glaucoma (POAG). METHODS 1592 eyes from 1076 healthy controls and 758 eyes from 502 patients with POAG underwent optical coherence tomography (OCT) imaging to assess RNFL parameters. Visual field (VF) mean deviation (MD) from standard automated perimetry was used to indicate severity in subjects with glaucoma. RESULTS RNFL thickness significantly decreased with age (ρ=-0.10 to -0.16, p less then 0.001) and increased with spherical equivalent (SE) refractive error (ρ=0.23-0.29, p less then 0.001) in healthy and glaucoma groups but showed a significant reduction with SE (ρ=-0.20, p less then 0.001) in the temporal RNFL of healthy subjects. RNFL measurements significantly decreased with VF MD (ρ=0.08-0.53, p less then 0.05) in subjects with POAG. When healthy subjects and subjects with glaucoma were matched to subgroups within a factor, significant differences in area under the curve (AUC) between subgroups were only found with SE AUCs increased significantly with disease severity, particularly in the global, inferior and superior measurements (p less then 0.