Results 121 to 130 of about 1,130,327 (225)
Periodontology 2000, EarlyView.AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer +4 more
wiley +1 more source
Mechanical sensitization of sensory afferents after passive transfer of fibromyalgia IgG
The Journal of Physiology, EarlyView.Abstract figure legend In addition to widespread pain and fatigue, people with fibromyalgia (FM) experience sensory abnormalities and report lingering, painful sensations after touch or mechanical probing of the skin. Administration of IgG purified from FM patients to mice transfers symptoms and signs of FM.
Mathilde R. Israel +5 more
wiley +1 more source
Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights
The Journal of Physiology, EarlyView.Abstract figure legend This white paper integrates mechanistic discoveries across ion channel biology, Ca2+ signalling and multiscale cardiovascular physiology to highlight new opportunities for accelerating research and guiding next‐generation therapies. Printed with permission from ®Anita Impagliazzo Medical Illustration. [Correction added on 2 March
Silvia Marchianò +18 more
wiley +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2794-2803, December 2026.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 11, November 2026.ABSTRACT Hemophagocytic lymphohistiocytosis (HLH) is a life‐threatening hyperinflammatory syndrome with nonspecific clinical manifestations that can mimic common conditions in patients with alcohol dependence. Early clinical suspicion and rapid initiation of treatment are essential to prevent fatal outcomes.
Adalis Rivera +4 more
wiley +1 more source
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan +23 more
wiley +1 more source
Liquid Biopsy: Past, Present, and Future
MedComm, Volume 7, Issue 11, November 2026.Liquid biopsy has expanded from cancer genotyping to a broader strategy for probing both oncologic and nononcologic conditions through circulating analytes and multilayer molecular readouts. This review traces the field's past, present, and future—summarizing where liquid biopsy is most actionable today, why performance varies across contexts, and ...
Jiachen Liu +8 more
wiley +1 more source
Treating young adults with type 2 diabetes or monogenic diabetes
, 2018 It is increasingly recognised that diabetes in young adults has a wide differential diagnosis. There are many monogenic causes, including monogenic beta-cell dysfunction, mitochondrial diabetes and severe insulin resistance.
core +1 more source
MedComm, Volume 7, Issue 11, November 2026.Neurodegenerative diseases share convergent risk architectures and pathological mechanisms, yet diverge in selective vulnerability, clinical presentation, and therapeutic responsiveness. This review integrates cross‐disease epidemiology, pathophysiology, diagnosis, and treatment, highlighting the transition from symptomatic care toward biomarker‐guided
Zimeng He +4 more
wiley +1 more source
Type 1 Diabetes Genetic Risk Score: a novel tool to discriminate monogenic and type 1 diabetes.
, 2016 Published onlineThis is the author accepted manuscript. The final version is available from the publisher via the DOI in this record.th T1D centile) was indicative of T1D (94% specificity, 50% sensitivity).
Oram, Richard A. +8 more
core +1 more source