Results 61 to 70 of about 36,892 (234)
Frontiers in Pediatrics, 2021 In December 2019, the first case of coronavirus disease (COVID-19) was first reported in Wuhan, China. As of March 2021, there were more than 120 million confirmed cases of COVID-19 and 2.7 million deaths.
Min-Sheng Lee +7 more
doaj +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Multisystem Inflammatory Syndrome in Children in the United States
New England Journal of Medicine, 2020 International ...
Leora R, Feldstein +2 more
openaire +6 more sources
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Chronic rhinosinusitis (CRS) is one of the most common manifestations of eosinophilic granulomatosis with polyangiitis (EGPA), often preceding the diagnosis of systemic vasculitis by several years. The sinonasal presentation of EGPA typically resembles CRS with nasal polyps (CRSwNP), making it clinically indistinguishable from those
Alisha Sharma +12 more
wiley +1 more source
Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs
The Anatomical Record, EarlyView.Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy +3 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective The unknown pathophysiology and the lack of specific features for systemic juvenile idiopathic arthritis and adult‐onset Still disease (collectively known as Still disease; SD) delay diagnosis and appropriate treatment. The goal of this study was to identify features and mechanisms that distinguish SD from other systemic autoinflammatory ...
Yvonne M. Mueller +16 more
wiley +1 more source
Multisystem inflammatory syndrome in neonates associated with pneumothorax: Case report
Radiology Case ReportsThe coronavirus disease 2019 (COVID-19) pandemic that was spread worldwide since 2019 and showed a highly contagious character affecting the lifestyle of people worldwide causing symptoms that are not limited to the respiratory system only but had multi ...
Amal Naous, MD +5 more
doaj +1 more source
From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Arthritis &Rheumatology, EarlyView.Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz +13 more
wiley +1 more source