Results 201 to 210 of about 202,258 (245)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels. [PDF]

Ann Clin Transl Neurol
Ortigoza-Escobar JD, Marti-Sánchez L, Martorell L, Dinoi G, Buono AV, De Luca A, Liantonio A, Imbrici P.   +7 more
europepmc   +1 more source

Global Real‐World Outcomes of Olaparib in Metastatic Castration‐Resistant Prostate Cancer Patients With Homologous Recombination Repair Alterations

International Journal of Cancer, EarlyView.
ABSTRACT Evidence to guide the treatment for patients with metastatic castration‐resistant prostate cancer (mCRPC) and Homologous Recombination Repair (HRR) gene alterations outside of clinical trials remains limited. This was an observational, cohort study, including mCRPC patients with tumor harboring HRR alterations, progressed on a prior androgen ...
Lorena Incorvaia, Daniele Santini, Marc R. Matrana, Marco Maruzzo, Ray Manneh Kopp, Lorenzo Antonuzzo, Sergio Bracarda, Deniz Tural, Giuseppe Procopio, Maria T. Bourlon, Orazio Caffo, Martin Ignacio Zapata Laguado, Massimo Di Maio, Brigida Anna Maiorano, Vincenza Conteduca, Sabrina Rossetti, Helga Lipari, Thomas Büttner, Mimma Rizzo, Yüksel Ürün, Carlo Messina, Fernando Sabino Marques Monteiro, Andrey Soares, Mattia Puglisi, Alice Principi, Eleonora Lai, Giulia Mammone, Marco Stellato, Ilaria Depetris, Tancredi Didier Bazan Russo, Isadora Yasbick Spricido, Camila Bobato Lara Gismondi, Francesco Massari, Nicola Pavan, Matteo Santoni, Tarek Taha   +35 more
wiley   +1 more source

Anti‐NMDA receptor autoimmune encephalitis associated with ovarian teratoma: A case series and literature review

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 23-30, April 2025.
Abstract Autoimmune encephalitis is a group of disorders characterized by symptoms of dysfunction of the limbic and extra‐limbic systems that occur in association with antibodies against intracellular antigens, synapses, or proteins located on the surface of nerve cells. Anti‐NMDA (N‐methyl‐D‐aspartate) receptor encephalitis was first described in 2007
Pham Ba Nha, Nguyen Phuong Tu, Nguyen Viet Ha, Duong Thi Thu Hien, Nguyen Thi Thu Phuong, Nguyen Anh Son, Nguyen Tien Hoang   +6 more
wiley   +1 more source

ATP Citrate Lyase in Metabolic Disease: Mechanistic Insights and Clinical Potential

iNew Medicine, EarlyView.
ATP citrate lyase (ACLY) is a central metabolic hub that diverts mitochondrial citrate to fuel de novo lipogenesis, cholesterol biosynthesis, and protein acetylation. Given its robust correlation with pathological changes in multiple human diseases, ACLY inhibitors featuring distinct pharmacological strengths have been developed for therapeutic ...
Wenbiao Wang, Xinyan Li, Honglu Shi, Gaolei Song, Zhifu Xie, Jingya Li   +5 more
wiley   +1 more source

Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic <i>POLG</i> Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Melo CF, de Vasconcelos LT, Evangelista LAB.   +2 more
europepmc   +1 more source

Survival of individuals with neurological and oncological diseases receiving home enteral nutrition: A descriptive cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Introduction Home enteral nutrition is mainly indicated for individuals with neurological or oncological diseases. However, few studies have evaluated survival in this population in low‐ and middle‐income countries. Objective To investigate factors influencing survival in individuals receiving home enteral nutrition and to identify variables ...
Giuliane de Matos Wrobel, Cesar Augusto Taconeli, Rubia Daniela Thieme, Maria Eliana Madalozzo Schieferdecker   +3 more
wiley   +1 more source

Case report of anti-vimentin IgG-associated autoimmune encephalitis: diagnostic challenges and the role of 18F-DPA714 PET/MRI. [PDF]

BMJ Neurol Open
Tu S, Dong S, Chen S, Meng H.
europepmc   +1 more source

Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome

JPGN Reports, EarlyView.
Abstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Tierra L. Mosher, Kathryn S. Czepiel, Matthew B. Neu, Andrea Carolina Cortes Fernandez, L. Walden Browne, Annie D. Niehaus, Roberto Gugig   +6 more
wiley   +1 more source