Results 51 to 60 of about 13,419 (176)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

An unusual blend; IgA nephropathy and anti GBM disease

Journal of Nephropathology, 2023
Anti-glomerular basement membrane (anti-GBM) disease is a rare illness with a wide spectrum of clinical manifestations. The typical presentation (90% of cases) of anti-GBM is with a rapidly progressive glomerulonephritis (RPGN) in conjunction with ...
E. Indhumathi, N. Jose, M. Bindra, S. Raj, M. Jayakumar, Case Report   +5 more
semanticscholar   +1 more source

Case report: Nephrotic syndrome and portal hypertensive ascites after allogeneic hematopoietic stem cell transplantation: a rare manifestation of chronic graft-versus-host disease

Frontiers in Immunology
Chronic graft-versus-host disease (GVHD) is a major complication after allogeneic hematopoietic stem cell transplantation (HSCT). Chronic GVHD may have atypical manifestations affecting non-classical organs.
SanXi Ai, YuBing Wen, XiaoHong Fan, TianRui Hua, Wei Ye, XueMei Li, Yan Qin   +6 more
doaj   +1 more source

Intraosseous sarcoidosis imitating peri‐implantitis: A case study

Clinical Advances in Periodontics, Volume 16, Issue 2, Page 251-259, June 2026.
Abstract Background Sarcoidosis is a multisystem granulomatous disorder of unknown cause, typically affecting the lungs and lymph nodes, but it can also involve the eyes, skin, heart, bones, and other organs. The exact cause is unclear, but genetic factors and environmental triggers like infections, chemicals, or dust may play a role.
Magdalena Orlowska, David S. Gottlieb, Kenneth S. Kornman   +2 more
wiley   +1 more source

Shifting From Systemic to Precision‐Targeted Complement Therapies: Opportunities and Hurdles

European Journal of Immunology, Volume 56, Issue 6, June 2026.
Complement therapeutics have expanded considerably, but systemic inhibitors remain limited by infection risks, breakthrough events, and loss of physiological functions. Emerging targeted approaches aim for organ‐, tissue‐, or cell‐specific modulation of complement activity, potentially offering greater precision while reducing treatment burden and ...
Marco Mannes, Wioleta M. Zelek, Leendert A. Trouw   +2 more
wiley   +1 more source

What is new in the management of rapidly progressive glomerulonephritis?

, 2015
Rapidly progressive glomerulonephritis (RPGN) results from severe crescentic damage to glomeruli and leads to irreversible kidney failure if not diagnosed and managed in a timely fashion.
Greenhall, GHB, G. H. B. Greenhall, Salama, AD, A. D. Salama   +3 more
core   +1 more source

Vascular Calcification: Mechanisms, Models, and Therapies

iNew Medicine, Volume 2, Issue 2, June 2026.
ABSTRACT Vascular calcification represents an active multifactorial process that mirrors several key features of skeletal bone mineralization. Clinically, it is characterized by diminished arterial compliance and increased arterial wall stiffness, both of which serve as independent predictors of significant adverse cardiovascular events.
Wenya Zhu, Shu Yang, Ziyi Chen, Xiaoxiao Yang, Zhen Liang, Yuanli Chen   +5 more
wiley   +1 more source

Renal involvement in eosinophilic granulomatosis with polyangiitis (EGPA): a multicentric retrospective study of 63 biopsy-proven cases

, 2021
OBJECTIVE: Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic small-vessel vasculitis characterized by asthma, hypereosinophilia and ANCA positivity in 40% of patients. Renal involvement is rare and poorly described, leading to this renal
Titeca-Beauport, Dimitri, Taille, Camille, Rafat, Cedric, Le Gallou, Thomas, Karras, Alexandre, Jayne, David, Agard, Christian, Marchand-Adam, Sylvain, Pugnet, Gregory, Sinico, Renato, Crabol, Yoann, Belenfant, Xavier, Barbet, Christelle, Essig, Marie, Blockmans, Daniel, Cottin, Vincent, Godmer, Pascal, Bouet, Julien, Hirschi-Santelmo, Sandrine, Puechal, Xavier, Bardy, Antoine, Sinico, Renato A., Durel, Cecile-Audrey, Guilpain, Philippe, Gaultier, Jacques, Deligny, Christophe, Teixeira, Vitor, Boffa, Jean-Jacques   +27 more
core   +1 more source