Context Screening for and diagnosing non classic congenital adrenal hyperplasia (NCCAH) uses serum 17-hydroxyprogesterone (17OHP) thresholds established from immunoassay data; however, a new liquid-chromatography tandem mass spectrometry (LC-MS/MS) method results in lower 17OHP values. The evolution of immunoassays is also challenging our diagnostic cut-off for glucocorticoid insufficiency and few data re-evaluate the utility of testing for glucocorticoid insufficiency in NCCAH. https://www.selleckchem.com/products/apcin.html Objective (1) Evaluate the 17OHP threshold that predicts NCCAH in children using LC-MS/MS, and (2) determine the prevalence of glucocorticoid insufficiency in NCCAH. Methods A retrospective chart review of pediatric patients who underwent ACTH stimulation tests with cortisol and 17OHP measurements from 2011 to 2018 for assessment of NCCAH. Other adrenal pathologies were excluded. A cortisol  30 nmol/L; all subjects with other diagnoses peaked less then  30 nmol/L. Glucocorticoid insufficiency was present in 55% with NCCAH. Conclusions Despite the increased specificity of LC-MS/MS, a baseline 17OHP ≥ 6 nmol/L most accurately screened for NCCAH; this supports current practice guidelines. This threshold identified all with glucocorticoid insufficiency, notably prevalent in our cohort and for whom glucocorticoid stress dosing should be considered. © Endocrine Society 2019.Background The TBX1 gene encodes the T-box 1 protein that is a transcription factor involved in development. Haploinsufficiency of the TBX1 gene is reported to cause features similar to DiGeorge syndrome. The TBX1 gene is located within the DiGeorge syndrome region, and studies support that the TBX1gene is responsible for most of the features of the phenotype of hemizygous deletion of chromosome 22q11.2. In this study, we report a family of 4 (a father with 3 children) who presented with congenital hypoparathyroidism and hypocalcemia, facial asymmetry, deafness, normal intelligence, and no cardiac involvement. Methods We performed whole genome sequencing, computational structural analysis of the mutants, and gene expression studies for all affected family members. Results Whole genome sequencing revealed a paternal inherited novel heterozygous variant, c.1158_1159delinsT p.(Gly387Alafs*73), in the exon 9 isoform C TBX1 gene, causing a loss of nuclear localization sequence (NLS) and transactivation domain (TAD) with no change in gene expression and resulted in a DiGeorge-like phenotype. Conclusion A pathogenic variant in the TBX1 gene exon 9 C that predicted to cause a loss in the NLS region and most of TAD leads to variable features of hypoparathyroidism, distinctive facial features, deafness, and no cardiac involvement. In addition, our report and previous reports indicate the presence of a wide phenotypic spectrum of TBX1 genetic variants and the consistent absence of cardiac involvement in the case of pathogenic variants on exon 9 isoform C TBX1 gene. © Endocrine Society 2019.Haematological malignancies encompass all variations of leukaemia at both the chronic and acute level, together with the specific cell type induced into tumourigenesis. Current diagnostic protocols for leukaemic conditions rely heavily on cytomorphology and other histological examinations from bone marrow aspirates, with the latter being a highly invasive surgical procedure for the patient. The discovery of microRNAs as one of the key gene regulatory networks in the past two decades has enabled researchers to investigate the possibility of exploiting the identification of dysregulated expression profiles for specific microRNAs present in the leukaemic patient's bloodstream as novel liquid biopsy diagnostic tools. This review article serves to consolidate recent global research efforts aiming to achieve such scopes. © 2020 Production and hosting by Elsevier B.V. on behalf of KeAi Communications Co., Ltd.The initial cluster of severe pneumonia cases that triggered the COVID-19 epidemic was identified in Wuhan, China in December 2019. While early cases of the disease were linked to a wet market, human-to-human transmission has driven the rapid spread of the virus throughout China. The Chinese government has implemented containment strategies of city-wide lockdowns, screening at airports and train stations, and isolation of suspected patients; however, the cumulative case count keeps growing every day. The ongoing outbreak presents a challenge for modelers, as limited data are available on the early growth trajectory, and the epidemiological characteristics of the novel coronavirus are yet to be fully elucidated. We use phenomenological models that have been validated during previous outbreaks to generate and assess short-term forecasts of the cumulative number of confirmed reported cases in Hubei province, the epicenter of the epidemic, and for the overall trajectory in China, excluding the province of Hubei. odels predicts that the epidemic has reached saturation in both Hubei and other provinces. Our findings suggest that the containment strategies implemented in China are successfully reducing transmission and that the epidemic growth has slowed in recent days. © 2020 The Authors.Diamond like carbon (DLC) films with different C-C sp2/sp3 ratios were prepared by tuning the N2 flow rate in a filtered cathodic vacuum arc (FCVA) system. The increase of N2 flow rate facilitated the increase of C-C sp2/sp3 ratio (1.09-2.66), the growth of particle size (0.78-1.58 nm) and the improvement of surface roughness. The SBF immersion results, as well as WCAs (77.57°~71.71°), hemolysis rate (0.14-1.00%) and cytotoxicity level (0) demonstrated that the as-fabricated DLC film was promising for biomedical application. As a result of surface charge effect, the apatite layers formed in the SBF increased with the increase of C-C sp2/sp3 ratio until 1.74 and then showed a tiny decrease during 1.74-2.66. A raise of hemolysis and cytotoxicity was observed when sp2/sp3 ratio was increased. Moreover, a decrease of friction coefficient of Si surface induced by increasing sp2/sp3 ratio was respectively evidenced in ambient air and SBF lubrication environments. © 2020 Production and hosting by Elsevier B.V. on behalf of KeAi Communications Co.