Results 211 to 220 of about 149,128 (273)

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Hyperbaric oxygen therapy services at the Pamela Youde Nethersole Eastern Hospital hyperbaric oxygen therapy Center: A retrospective epidemiological study

Hong Kong Journal of Emergency Medicine, Volume 32, Issue 4, August 2025.
Abstract Introduction The aim of this retrospective epidemiological study is to analyze the characteristics and caseload of patients treated at the Pamela Youde Nethersole Eastern Hospital (PYNEH) hyperbaric oxygen therapy (HBOT) Center in Hong Kong from 2018 to 2023 to gain insight into the HBOT service provision and development in HK.
Kin Bong Tang, Hiu Kwan Suen, Wing Wa Yan   +2 more
wiley   +1 more source

Novel Use of Bland Trans‐Arterial Embolization for Hepatoblastoma: A Case Report

Pediatric Transplantation, Volume 29, Issue 5, August 2025.
ABSTRACT Background Hepatoblastoma is an embryonal tumor originating from hepatocyte precursors. Surgical resection is the primary treatment. Unresectable cases are treated with chemotherapy combined with liver transplantation. Patients with suboptimal chemotherapy response face limited therapeutic choices.
Dan Pham, Armando Vera, Chong Bin He, Rachel S. Kronenfeld, Alyson Trillo, Taumoha Ghosh, Jennifer Garcia, Akin Tekin, Prasoon Mohan, Lorraine Portelance, Warren Alperstein, Aditi Dhir   +11 more
wiley   +1 more source

Developmental Disturbances in Animal Models of Autism Spectrum Disorder

Developmental Neurobiology, Volume 85, Issue 3, July 2025.
ABSTRACT Although the early signs of autism spectrum disorder (ASD) are widely studied, the significant ambiguity and heterogeneity in symptoms require the comparison of available models, approaches, and the search for common denominators and key indicators.
Kristof Laszlo, Zuzana Bacova, Dora Zelena, Jan Bakos   +3 more
wiley   +1 more source

Aggressive Head and Neck Squamous Cell Carcinoma in the Setting of GATA2 Deficiency

Head &Neck, Volume 47, Issue 7, Page E82-E86, July 2025.
ABSTRACT Background GATA2 deficiency is a rare genetic disorder associated with hematologic, infectious, and neoplastic complications. We report a case of a patient with GATA2 deficiency who developed aggressive squamous cell carcinoma (SCC) of the head and neck, an atypical manifestation of this condition.
Brejjette Aljabi, James A. Stewart, Kirk Withrow, Carissa M. Thomas   +3 more
wiley   +1 more source

Borrelia burgdorferi Infection Is Worth Screening to Investigate Sensorineural Hearing Loss Etiology: A Systematic Review

Health Science Reports, Volume 8, Issue 7, July 2025.
ABSTRACT Background and Aim Sensorineural hearing loss (SNHL) is a common hearing disorder prevalent. Borrelia burgdorferi (B. burgdorferi) is a spirochete whose infection has been shown to result in SNHL. This systematic review aims to investigate the prevalence and association of B. burgdorferi infection in SNHL.
Abhinav Bhattarai, Sangam Shah, Madhur Bhattarai, Garima Dhakal, Sunraj Tharu, Mandira Khadka, Prakash Sharma, Arun Kharel, Basanta Sharma Paudel, Prativa Subedi, Shyam Kumar Mishra   +10 more
wiley   +1 more source

Iridium‐Bismuth‐Oxide Coatings for Use in Neural Stimulating Electrodes: The Influence of Ir/Bi Ratio

Journal of Biomedical Materials Research Part A, Volume 113, Issue 7, July 2025.
ABSTRACT Implantable neural prosthetics with stimulating electrodes are increasingly employed in medical practices to treat neural disabilities. The electrode material is expected to provide high charge storage and injection capacity (CSC/CIC) and low impedance for safe, efficient, and precise neural stimulation, while at the same time, being small. To
Xingge Xu, Irshad Ali, Sandra Minotti, Heather D. Durham, Sasha Omanovic   +4 more
wiley   +1 more source

Audiovestibular Findings in Gaucher Disease Types I and III: Evidence of Vestibular Involvement in GD1

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Gaucher disease (GD), the most prevalent lysosomal storage disorder, is characterized by varying levels of systemic and neurological involvement. This study aims to investigate audiovestibular system involvement in patients with Gaucher disease type I (GD1) and type III (GD3) using audiometric and vestibular evaluations.
Elvan Onan, Fatma Derya Bulut, Deniz Kor, Muhammed Dagkiran, Caglar Eker, Ozgur Surmelioglu, Neslihan Önenli Mungan   +6 more
wiley   +1 more source

Emerging Therapies for Sensorineural Hearing Loss.

Otology and Neurotology, 2017
Matthew G. Crowson, R. Hertzano, D. Tucci   +2 more
semanticscholar   +1 more source

Estimation of Minimal Clinically Important Difference for Tinnitus Handicap Inventory and Tinnitus Functional Index

Otolaryngology–Head and Neck Surgery, Volume 173, Issue 1, Page 69-79, July 2025.
Abstract Objective The minimal clinically important difference (MCID) represents the smallest change in treatment outcome deemed clinically meaningful. This study estimates the MCID for 2 widely used tinnitus measures: the Tinnitus Handicap Inventory (THI) and the Tinnitus Functional Index (TFI), using anchor‐based approaches while accounting for ...
Milena Engelke, Laura Basso, Berthold Langguth, Florian Zeman, Winfried Schlee, Stefan Schoisswohl, Rilana Cima, Dimitris Kikidis, Jose Antonio Lopez‐Escamez, Petra Brüggemann, Birgit Mazurek, Jorge Piano Simões   +11 more
wiley   +1 more source