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Several rare copy number variants have been identified to confer risk for neurodevelopmental disorders (NDD-CNVs), and increasingly NDD-CNVs are being identified in patients. There is a clinical need to understand the phenotypes of NDD-CNVs. However due to rarity of NDD-CNVs in the population, within individual countries there is a limited number of NDD-CNV carriers who can participate in research. The pan-european MINDDS (Maximizing Impact of Research in Neurodevelopmental Disorders) consortium was established in part to address this issue. A survey was developed to scope out the current landscape of NDD-CNV research across member countries of the MINDDS consortium, and to identify clinical cohorts with potential for future research. 36 centres from across 16 countries completed the survey. https://www.selleckchem.com/products/GDC-0449.html We provide a list of centres who can be contacted for future collaborations. 3844 NDD-CNV carriers were identified across clinical and research centres spanning a range of medical specialties, including psychiatry, paediatrics, medical genetics. A broad range of phenotypic data was available; including medical history, developmental history, family history and anthropometric data. In 12/16 countries, over 75% of NDD-CNV carriers could be recontacted for future studies. This survey has highlighted the potential within Europe for large multi-centre studies of NDD-CNV carriers, to improve knowledge of the complex relationship between NDD-CNV and clinical phenotype. The MINNDS consortium is in a position to facilitate collaboration, data-sharing and knowledge exchange on NDD-CNV phenotypes across Europe. This survey has highlighted the potential within Europe for large multi-centre studies of NDD-CNV carriers, to improve knowledge of the complex relationship between NDD-CNV and clinical phenotype. The MINNDS consortium is in a position to facilitate collaboration, data-sharing and knowledge exchange on NDD-CNV phenotypes across Europe.ALPL encodes tissue-nonspecific alkaline phosphatase (TNAP), an enzyme expressed in bone, teeth, liver, and kidney. ALPL loss-of-function mutations cause hypophosphatasia (HPP), an inborn error-of-metabolism that produces skeletal and dental mineralization defects. Case reports describe widely varying dental phenotypes, making it unclear how HPP comparatively affects the three unique dental mineralized tissues enamel, dentin, and cementum. We hypothesized that HPP affected all dental mineralized tissues and aimed to establish quantitative measurements of dental tissues in a subject with HPP. The female proband was diagnosed with HPP during childhood based on reduced alkaline phosphatase activity (ALP), mild rachitic skeletal effects, and premature primary tooth loss. The diagnosis was subsequently confirmed genetically by the presence of compound heterozygous ALPL mutations (exon 5 c.346G>A, p.A116T; exon 10 c.1077C>G, p.I359M). Dental defects in 8 prematurely exfoliated primary teeth were analyzed by high reeasure effects of HPP on dental tissues. This approach has uncovered a previously unrecognized novel mantle dentin defect in HPP, as well as a surprising and variable cementum phenotype within the teeth from the same HPP subject. Aspirin-exacerbated respiratory disease (AERD) consists of asthma, chronic rhinosinusitis with polyps, and hypersensitivity to aspirin and/or nonsteroidal anti-inflammatory drugs (NSAIDs). Nasal Lysine Aspirin Challenge is an effective tool for the diagnosis of hypersensitivity to aspirin and/or NSAIDs in patients with AERD. However, there is no unified international consensus version to perform nasal provocation tests (NPTs). To investigate the effect of a leukotriene receptor antagonist (LTRA), montelukast, on the lysine-acetylsalicylate (L-ASA) nasal challenge. We included 86 patients divided into 3 samples group A (AERD without LTRA), group B (AERD with LTRA), and the control group (NSAID-tolerant asthmatics). NPT with L-ASA was performed with 25 mg of L-ASA every 30 minutes 4 times followed by rhinomanometry and spirometric measurements and evaluation of symptoms using a novel clinical scale. In group A, 94.5% of patients (35 of 37) developed a positive response to NPT (drop >40% in total nasal flow), whereas only 46% of group B subjects (13 of 28) showed a positive response to the nasal challenge (P < .001). Control subjects did not show any response to the L-ASA challenge. A novel clinical score demonstrated accuracy in classifying the hypersensitivity to aspirin and/or NSAIDs when patients avoid LTRA (33 of 37). Patients with AERD without LTRA showed a greater positive response to the L-ASA challenge than those taking this drug; therefore, LTRA treatment should be discontinued before the challenge for optimal diagnostic accuracy. Patients with AERD without LTRA showed a greater positive response to the L-ASA challenge than those taking this drug; therefore, LTRA treatment should be discontinued before the challenge for optimal diagnostic accuracy. Patients with severe 2019 novel coronavirus disease (COVID-19) have a high mortality rate. The early identification of severe COVID-19 is of critical concern. In addition, the correlation between the immunological features and clinical outcomes in severe cases needs to be explored. To build a nomogram for identifying patients with severe COVID-19 and explore the immunological features correlating with fatal outcomes. We retrospectively enrolled 85 and 41 patients with COVID-19 in primary and validation cohorts, respectively. A predictive nomogram based on risk factors for severe COVID-19 was constructed using the primary cohort and evaluated internally and externally. In addition, in the validation cohort, immunological features in patients with severe COVID-19 were analyzed and correlated with disease outcomes. The risk prediction nomogram incorporating age, C-reactive protein, and D-dimer for early identification of patients with severe COVID-19 showed favorable discrimination in both the primary (a prognostic predictors in severe patients. Most patients with heart failure (HF) struggle to adhere to health behaviors, and existing health behavior interventions have significant limitations. We developed a 12-week, phone-delivered, combined positive psychology (PP) and motivational interviewing (MI) intervention to promote well-being and adherence to physical activity, diet, and medications. In this three-arm, randomized trial, we assessed the feasibility, acceptability, and preliminary efficacy of the intervention compared to treatment as usual and MI-alone conditions in 45 patients with HF and suboptimal health behavior adherence. Participants in the PP-MI or MI-alone conditions completed weekly phone sessions for 12weeks. Those in PP-MI completed weekly PP exercises and set health behavior goals, while those in the MI-alone condition learned about HF-specific health behaviors and identified potential behavior changes. Primary study outcomes were feasibility (sessions completed) and acceptability (0-10 ratings of PP exercise ease and utility).
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