Results 161 to 170 of about 7,212 (260)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Imaging features, diagnosis, and clinical management of hepatic involvement in hereditary hemorrhagic telangiectasia: a case series report and literature review. [PDF]

Front Med (Lausanne)
Feng Q, Rao Q, Duan J, Fan S, Ma L.
europepmc   +1 more source

The Significance of cGAS‐STING Signaling in Response to Oncogenic Viruses

Cell Biochemistry and Function, Volume 44, Issue 9, September 2026.
ABSTRACT The cyclic GMP‐AMP synthase (cGAS)‐stimulator of interferon genes (STING) signaling pathway, as a key DNA sensor, plays a significant role in the regulation of innate immune responses. This pathway can be activated by sensing abnormal DNA, and is of great significance for resisting the invasion of pathogenic microorganisms and maintaining ...
Limei Guo, Li Li, Fang Wang, Wen Liu, Yan Zhang   +4 more
wiley   +1 more source

Telangiectatic Matting as a Complication After Aesthetic Procedures: A Case Report. [PDF]

Cureus
Cabral G, Batagini N, Zerati A, Estenssoro A, Oliveira Y, Mello Netto BAS.   +5 more
europepmc   +1 more source

A 12‐Year‐Old Child With a Sunken Sternum and Progressive Muscle Weakness: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT A 12‐year‐old girl with facioscapulohumeral muscular dystrophy and severe pectus excavatum presented with progressive dyspnea and restrictive ventilatory impairment. She underwent successful Nuss repair with uneventful recovery. At 6‐month follow‐up, chest contour and pulmonary function improved, suggesting that surgical correction is feasible
Siman Chen, Chenghao Chen, Qi Zeng
wiley   +1 more source

A 25-year-old pregnant woman with recurrent haemoptysis. [PDF]

Breathe (Sheff)
Ing SK, Lee YH, Sim ITY, Ho MC, Ngu NH, Sii LP, Wong SIL, Zainol Abidin ZB, Johin WA, Chai CS, Tie ST, Kho SS.   +11 more
europepmc   +1 more source

4% 5‐Fluorouracil Cream for Actinic Keratoses: First Report of Efficacy and Tolerability in a Person Living With Human Immunodeficiency Virus Infection

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Actinic keratosis (AK) is a common premalignant skin condition associated with chronic ultraviolet exposure and an increased risk of progression to cutaneous squamous cell carcinoma (cSCC). Its prevalence rises with age and is influenced by multiple factors, including fair skin phototype and immunosuppression.
Gloria Hoxhallari, Aurelio Portincasa, Nicola Fini, Vincenzo Verdura, Liberato Roberto Cecchino, Fedele Lembo, Sergio Lo Caputo, Domenico Bonamonte, Caterina Foti, Francesco Drago, Giulia Ciccarese   +10 more
wiley   +1 more source

Infantile scabies mimicking refractory eczema: a case report and review of the literature. [PDF]

Front Med (Lausanne)
Guo Q, Bao F, Li Z, Chu T, Zhang Y, Tian H.   +5 more
europepmc   +1 more source

Successful Endoscopic Sealing of Gastric Perforation With Tissue Adhesive Following Endoscopic Treatment for Gastric Fundal Variceal Bleeding: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Gastric perforation after endoscopic treatment of gastric fundal variceal bleeding is extremely rare. In carefully selected patients with early, small perforations and limited peritoneal contamination, endoscopic tissue adhesive injection combined with conservative management may provide a feasible nonsurgical rescue strategy.
Tianwen Liu, Zhaoli Fu, Yanfeng Lin, Jingyi Xu, Xiaofeng Lin, Shuting Wen, Shumin Qin   +6 more
wiley   +1 more source

Clinical pearls and pitfalls in inborn errors of immunity: An expert-derived framework for diagnostic pattern recognition. [PDF]

Pediatr Allergy Immunol
Vásquez Echeverri E, Bustamante-Ogando JC, Castano-Jaramillo LM, Vélez Tirado N, Venegas Montoya E, Gómez Tello H, Palma A, Guaní-Guerra E, Ale H, Yamazaki-Nakashimada MA, Sullivan KE, Lugo Reyes SO.   +11 more
europepmc   +1 more source