Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder that results in several autoimmune diseases due to the mutations in the AIRE (autoimmune regulator) gene. APECED patients develop several autoimmune endocrine disorders and are characterized by the high titer autoantibodies to organ-specific antigens such as the steroidogenic P450 cytochromes. So far, 38 mutations have been identified in the AIRE gene. We report here the genetic and autoantibody analysis of 27 APECED patients of Eastern and Central European origins and one Egyptian patient. From 54 analyzed APECED chromosomes, eight mutations were detected, four of which (T16M, W78R, IVS1_IVS4, 30-53dup23bp) are novel. The most prevalent reason for APECED in these populations was the occurrence of R257X (36 chromosomes) that has been described earlier as a common and recurrent mutation in several other populations. The analysis of humoral immunity to steroidogenic P450 cytochromes by the immunoblotting of E. coli expressed antigens in the 18 APECED patients showed that 67%, 44%, and 61% of the Eastern and Central European APECED patients had autoantibodies to P450c17, P450c21, and P450scc, respectively.

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BackgroundCurcumin is a yellow-pigment phenolic compound used as a food spice and has a broad spectrum of antioxidant, anti-carcinogenic, anti-mutagenic and anti-inflammatory properties.MethodsRadio-protective efficacy of curcumin; diferuloylmethane (C21H20O6) was evaluated using molecular and biochemical assays in male mice after exposure to 3 Gy γ-rays. Curcumin was given at a dose of 400 μmol/ kg body weight via gastric tubes for 5 following days either pre-, post- or both pre- and post-exposure.ResultsThe incidence of aberrant cells and aberration types (mostly chromatids, breaks and fragments) was reduced with curcumin dosage as compared to irradiated group. Thiobarbituric acid reactive substances (TBARS), hydroperoxide (HP), xanthine oxidase (XO) and apoptotic markers (DNA- fragmentation and caspase-3 activation) were increased significantly, whereas levels of glutathione (GSH) and the enzymatic antioxidants [Superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPx)] were significantly depleted in γ-irradiated mice. Curcumin treatments of mice groups including the 5 days pre-irradiation treated group (protected), the 5 days post-irradiation treated group (treated), and the curcumin treated group 5 days pre- and post-irradiation (protracted), have attenuated the liver toxic effects of γ-rays as manifested by reducing the levels of TBARS, HP, XO and DNA fragmentation. Curcumin has also rescued the depletion of GSH and the enzymatic-antioxidant status.ConclusionsCurcumin has significant radio-protective and radio-recovery activities in γ-irradiated mice. It has antioxidant potential against γ-rays-induced cytogenetic, molecular and biochemical lesions in mice.

Objective: To investigate a Middle East respiratory syndrome coronavirus (MERS-CoV) outbreak event involving multiple healthcare facilities in Riyadh, Saudi Arabia; to characterize transmission; and to explore infection control implications. Design: Outbreak investigation. Setting: Cases presented in 4 healthcare facilities in Riyadh, Saudi Arabia: a tertiary-care hospital, a specialty pulmonary hospital, an outpatient clinic, and an outpatient dialysis unit. Methods: Contact tracing and testing were performed following reports of cases at 2 hospitals. Laboratory results were confirmed by realtime reverse transcription polymerase chain reaction (rRT-PCR) and/or genome sequencing. We assessed exposures and determined seropositivity among available healthcare personnel (HCP) cases and HCP contacts of cases. Results: In total, 48 cases were identified, involving patients, HCP, and family members across 2 hospitals, an outpatient clinic, and a dialysis clinic. At each hospital, transmission was linked to a unique index case. Moreover, 4 cases were associated with superspreading events (any interaction where a case patient transmitted to ≥5 subsequent case patients). All 4 of these patients were severely ill, were initially not recognized as MERS-CoV cases, and subsequently died. Genomic sequences clustered separately, suggesting 2 distinct outbreaks. Overall, 4 (24%) of 17 HCP cases and 3 (3%) of 114 HCP contacts of cases were seropositive. Conclusions: We describe 2 distinct healthcare-associated outbreaks, each initiated by a unique index case and characterized by multiple superspreading events. Delays in recognition and in subsequent implementation of control measures contributed to secondary transmission. Prompt contact tracing, repeated testing, HCP furloughing, and implementation of recommended transmission-based precautions for suspected cases ultimately halted transmission.Middle East respiratory syndrome coronavirus (MERS-CoV) is a novel β-coronavirus identified in 2012. 1 Infection may result in upper or lower respiratory tract illness, with symptoms ranging from inapparent or mild to rapidly progressive respiratory failure and, iñ 35% of confirmed cases, death. 2 Numerous large, healthcareassociated outbreaks of MERS-CoV have occurred, resulting in transmission to patients, visitors, and healthcare personnel (HCP). [3][4][5][6] Prevention of MERS-CoV transmission in healthcare settings requires effective triaging and a high clinical index of suspicion to Cite this article: Alanazi KH, et al. (2019). Scope and extent of healthcare-associated Middle East respiratory syndrome coronavirus transmission during two

Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on chromosome 21. This syndrome has a clinical heterogeneity mainly exhibited with variable degrees of intellectual disability (ID) and congenital alopecia, as well. Eight families with 13 cases have been previously reported. Herein, we provide a report on an Egyptian family with two affected siblings and one affected fetus who was diagnosed prenatally. Whole-exome sequencing (WES) revealed a novel pathogenic missense variant (c.1609G > T; p.Val537Leu) in the lanosterol synthase gene (LSS) related to the examined patients. The detected variant was confirmed by Sanger sequencing. Segregation analyses confirmed that the parents were heterozygous. Our patient was presented with typical clinical manifestations of the disease in addition to new phenotypic features which included some dysmorphic facies as frontal bossing and bilateral large ears, as well as bilateral hyperextensibility of the fingers and wrist joints, short stature, umbilical hernia, and teeth mineralization defect. This study is the first study in Egypt and the 9th molecularly proven family to date. The aim is to expand the clinical and mutational spectrum of the syndrome. Moreover, the report gives a hint on the importance of prenatal testing and the proper genetic counseling to help the parents to take their own decision based on their beliefs.