Results 41 to 50 of about 4,063 (129)

Olmsted Syndrome: A Case Report of Two Brothers

Indian Journal of Paediatric Dermatology
Olmsted syndrome is a rare disease characterized by severe mutilating transgradient keratoderma with prominent periorificial hyperkeratosis. A total of 73 cases have been reported worldwide.
Surendra Singh Bhati, Anmol Bhargava, Pramey Deshpande, Swati Sahu   +3 more
doaj   +1 more source

TRPV3 in Drug Development

Pharmaceuticals, 2016
Transient receptor potential vanilloid 3 (TRPV3) is a member of the TRP (Transient Receptor Potential) super-family. It is a relatively underexplored member of the thermo-TRP sub-family (Figure 1), however, genetic mutations and use of gene knock-outs ...
Lisa M. Broad, Adrian J. Mogg, Elizabeth Eberle, Marcia Tolley, Dominic L. Li, Kelly L. Knopp   +5 more
doaj   +1 more source

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta

Frontiers in Endocrinology, 2023
Osteogenesis imperfecta (OI) is a heritable and chronically debilitating skeletal dysplasia. Patients with OI typically present with reduced bone mass, tendency for recurrent fractures, short stature and bowing deformities of the long bones.
Pei Jin Lim, Giulio Marcionelli, Pakeerathan Srikanthan, Timothée Ndarugendamwo, Jason Pinner, Jason Pinner, Marianne Rohrbach, Cecilia Giunta   +7 more
doaj   +1 more source

Liquid Biopsy and Multi‐Cancer Early Detection Tests for Cancer Screening: A Scoping Review

Clinical Genetics, EarlyView.
There is a large body of evidence on liquid biopsy and multi‐cancer detection tests for cancer screening. Most studies addressed test performance outcomes, while fewer addressed clinical outcomes, implementation, and cost‐effectiveness. No studies evaluated cancer mortality.
Tessa Robinson, Marian Saab, Lily Thao Nguyen, Pooja Kochar, Olivia Meggetto, Jill Tinmouth, Meghan J. Walker   +6 more
wiley   +1 more source

Light Chain Monoclonal Gammopathy of Undetermined Significance: Diagnosis, Biology, and Clinical Management

European Journal of Haematology, EarlyView.
ABSTRACT Light chain monoclonal gammopathy of undetermined significance (LC‐MGUS) is defined by an abnormal serum free light chain ratio and elevated involved light chain in the absence of a detectable immunoglobulin heavy chain on immunofixation and of end‐organ damage attributable to a plasma cell disorder.
Sigurður Yngvi Kristinsson, Thórir Einarsson Long, Sigrún Thorsteinsdóttir   +2 more
wiley   +1 more source

Pre-hospital use of inhaled corticosteroids and inhaled beta agonists and incidence of ARDS: A population-based study [PDF]

Acta Medica Academica, 2015
Objective. Inhaled corticosteroids and inhaled beta agonists were shown to decrease the lung injury in animal models. We investigated the association of pre-hospital use of inhaled corticosteroids and inhaled beta agonists with the incidence of Acute ...
Asif Muhammad Mangi, Vikas Bansal, Guangxi Li, Matthew S. Pieper, Ognjen Gajic, Emir Festic   +5 more
doaj   +1 more source

Pathogenesis of hidradenitis suppurativa: From susceptibility to chronicity

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review describes hidradenitis suppurativa as a heterogeneous disorder in which genetic susceptibility, epithelial dysfunction, environmental exposures, immune activation and microbial ecology converge differently across patients and disease stages.
Kelsey R. van Straalen, Nisha S. Chandran, Jean M. Fletcher, Evangelos J. Giamarellos‐Bourboulis, Elia Rosi, Gregor B. E. Jemec   +5 more
wiley   +1 more source

Perspectives from Alzheimer's Disease Research Centers site directors on the early steps and the lasting impact

Alzheimer's &Dementia, Volume 22, Issue 10, October 2026.
Abstract Since the groundbreaking work of Alois Alzheimer in the early 1900s, Alzheimer's disease research has evolved immensely, most notably with the establishment of the Alzheimer's Disease Research Centers (ADRC). Fueled by the vision and funding of the National Institute on Aging (NIA), ADRCs have created a legacy through their work standardizing ...
John H. Growdon, John C. Morris, Ronald C. Petersen, Mary Sano, Lon S. Schneider   +4 more
wiley   +1 more source

Assessing mortality risk in narcolepsy: Evidence from population studies

Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 3, September 2026.
Abstract Narcolepsy is a chronic neurologic sleep disorder associated with excessive daytime sleepiness, cataplexy, and a higher prevalence of cardiovascular and psychiatric comorbidities. While these factors may predispose individuals to adverse events, observational studies evaluating mortality in narcolepsy have yielded inconsistent results.
Nawris Alhassan, Susmin Karki, Jagdish Lal   +2 more
wiley   +1 more source

Towards the prevention of acute lung injury: a population based cohort study protocol

BMC Emergency Medicine, 2010
Background Acute lung injury (ALI) is an example of a critical care syndrome with limited treatment options once the condition is fully established.
Sloan Jeff A, Cartin-Ceba Rodrigo, Reriani Martin K, Ahmed Adil, Thakur Lokendra, Kashyap Rahul, Malinchoc Michael M, Trillo-Alvarez Cesar A, Thakur Sweta J, Gajic Ognjen   +9 more
doaj   +1 more source