Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations

Objective: Immunological abnormalities, the resulting endocrinopathies and their treatments may impact bone health in patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED, APS1). The aim of the present study was to describe skeletal characteristics in patients with APECED and the prevalence and risk factors of compromised bone health.Patients and methods: We performed a cross-sectional study on 44 patients (27 females) with APECED and 82 age-, gender- and ethnicity-matched control subjects (54 females). We determined the prevalence of osteoporosis by dual-energy X-ray absorptiometry and skeletal characteristics by peripheral quantitative computed tomography at radius and tibia.Results: Patients were examined at the median age of 37.8 years (range, 7.0–70.1). Dual-energy X-ray absorptiometry indicated osteoporosis in four adult patients (9%); radiographs showed vertebral fractures in three patients. The prevalence of multiple non-spinal fractures was higher in patients than in controls. On peripheral quantitative computed tomography, bone characteristics at distal and proximal radius did not differ between the groups. At distal tibia, patients had lower total (p = 0.009) and trabecular (p = 0.033) volumetric bone mineral density. At the proximal tibia, patients had lower cortical thickness (p
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research

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In this study, five machine learning algorithms and twelve types of molecular fingerprints were employed to generate QSAR discriminant models for mitochondrial toxicity. A threshold moving method was adopted to resolve the imbalance issue in the training data. Consensus of the models by an averaging probability strategy improved prediction performance. The best model has correct classification rates of 81.8% and 88.3% in ten-fold cross validation and external validation, respectively. Substructures such as phenol, carboxylic acid, nitro and arylchloride were found informative through analysis of information gain and freque...
Source: Chemosphere - Category: Chemistry Authors: Tags: Chemosphere Source Type: research
Authors: Sekiguchi Y, Iizuka H, Takizawa H, Sugimoto K, Sakajiri S, Inano T, Fukuda Y, Shirane S, Hamano Y, Tomita S, Izumi H, Okubo M, Nakamura N, Sawada T, Sekiguchi N, Noguchi M Abstract A 53-year-old woman had been diagnosed with rheumatoid arthritis (RA) in X-6. She was started on methotrexate (MTX) in X-1. She developed a cough, and chest computed tomography showed abnormalities. In X, MTX was discontinued, but the cough persisted. A lung biopsy revealed a diagnosis of nodular sclerosis classic Hodgkin lymphoma (CHL-NS). She was considered to have "other iatrogenic immunodeficiency-associated lymphoproli...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Authors: Nakamura M, Matsumoto Y, Hoki S, Kuroki S, Ikuta K, Senda E, Shio S Abstract A 44-year-old woman presented to our hospital with abdominal pain. Abdominal ultrasonography and computed tomography showed a mass-like change in the lesser omentum between the liver and stomach. Esophagogastroduodenoscopy revealed a submucosal tumor-like change, and endoscopic ultrasonography (EUS) revealed that the mass was located outside of the stomach wall. We performed EUS fine-needle aspiration and diagnosed panniculitis of the lesser omentum. Based on these findings, we suggest that mass-like lesions in the lesser omentum ...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Authors: Ueda Y, Kawai Y, Shokoku G, Kuroda K, Kawamura K, Ono T, Tokioka K, Ohe T Abstract Superior mesenteric venous thrombosis (SMVT), which results from various etiologies, including coagulation disorders, can be diagnosed early using advanced imaging technology. However, few reports have described the nonsurgical treatment of acute peritonitis caused by SMVT. We encountered a young woman whose history included abdominal pain and daily oral contraceptives and who presented with acute peritonitis caused by SMVT. We administered nonsurgical treatment that included thrombolysis and anticoagulation for the peritoni...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Effects of Cardiac Sympathetic Neurodegeneration and PPARγ Activation on Rhesus Macaque Whole Blood miRNA and mRNA Expression Profiles. Biomed Res Int. 2020;2020:9426204 Authors: Metzger JM, Lopez MS, Schmidt JK, Murphy ME, Vemuganti R, Emborg ME Abstract Degeneration of sympathetic innervation of the heart occurs in numerous diseases, including diabetes, idiopathic REM sleep disorder, and Parkinson's disease (PD). In PD, cardiac sympathetic denervation occurs in 80-90% of patients and can begin before the onset of motor symptoms. Today, there are no disease-modifying therapies for cardiac sympa...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
CONCLUSION: On the basis of a broadly based research and participatory development process, a set of indicators has been developed that enables comprehensive evaluation of the regional quality of care of cross-indication, integrated care models focusing on common diseases. In order to be able to increasingly evaluate aspects of care coordination and patient orientation, health promotion as well as nursing, palliative and emergency care in the future, it would be helpful if routine data were collected or made accessible in these areas as well. PMID: 32467041 [PubMed - as supplied by publisher]
Source: Zeitschrift fur Evidenz, Fortbildung und Qualitat im Gesundheitswesen - Category: Health Management Tags: Z Evid Fortbild Qual Gesundhwes Source Type: research
ConclusionCombined laparoscopic pouch resizing and distalization are safe and can lead to adequate weight loss. This technique allows the combination of an added restriction and malabsorption to the previous RYGB and could lead to an improved weight loss.
Source: Obesity Surgery - Category: Surgery Source Type: research
ConclusionThis video demonstrates a form to extract a displaced gastric clip used to create a calibrated tubular gastroplasty using a laparoscopic approach.
Source: Obesity Surgery - Category: Surgery Source Type: research
PMID: 32463105 [PubMed - in process]
Source: Cardiology Journal - Category: Cardiology Authors: Tags: Cardiol J Source Type: research
ConclusionsAcetabular cups in primary cementless THAs of RA patients were less stable in terms of cup migration compared with that of OA patients.
Source: International Orthopaedics - Category: Orthopaedics Source Type: research
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