Results 121 to 130 of about 1,939 (189)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1850-1855, August 2026.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

A Comprehensive and Critical Evaluation of Autonomic Nervous System Impairment in Patients with Wilson Disease: A Cross‐Sectional Study

Brain and Behavior, Volume 16, Issue 8, August 2026.
ABSTRACT Background Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism with heterogeneous hepatic and neurological manifestations. Autonomic nervous system (ANS) involvement in WD is poorly recognized and remains inadequately studied, despite its potential to cause significant morbidity if unrecognized.
Sabyasachi Pattanayak, Niraj Kumar Srivastava, Anand Kumar, Deepika Joshi, Atanu Roy, Sanjeev Kumar Singh, Rajniti Prasad, Suyash Tripathi, Ashish Verma, Ritu Ojha, Varun Kumar Singh, Abhishek Pathak, Rameshwar Nath Chaurasia, Vijaya Nath Mishra, Ibrahim Hussain   +14 more
wiley   +1 more source

A Case of Hybrid Stent Placement Following Bronchial Artery Embolization for Bleeding Airway Stenosis due to Mediastinal and Hilar Lymph Node Metastasis by Renal Cell Carcinoma

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Here, we report a rare case of severe central airway obstruction caused by mediastinal and hilar lymph node metastases with persistent bleeding from renal cell carcinoma. Hemoptysis and critical left main bronchial stenosis were initially managed with bronchial arterial embolization, which reduced the risk of bleeding during subsequent ...
Yuto Sasano, Yuki Takigawa, Ken Sato, Mayu Uka, Satoshi Nogami, Shoichiro Matsumoto, Tomoyoshi Inoue, Suzuka Matsuoka, Hiromi Watanabe, Hiroe Kayatani, Kenichiro Kudo, Keiichi Fujiwara, Takuo Shibayama   +12 more
wiley   +1 more source

Progressive Cerebellar Dysfunction, Pituitary Insufficiency, and Severe Skeletal Fragility in Adult Survivorship of Childhood Multisystem Langerhans Cell Histiocytosis: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Childhood‐onset multisystem Langerhans cell histiocytosis can lead to delayed adult morbidity involving the neurologic, hypothalamic–pituitary, and skeletal systems. Progressive cerebellar dysfunction, chronic pituitary insufficiency, and severe skeletal fragility may emerge years after apparent disease control, underscoring the need for ...
Suhaib Alnahar, Alaa Senjab, Sara Gharib, Zena Gharib, Lama Hadid   +4 more
wiley   +1 more source

Alpha‐Mannosidosis in a 3.5‐Year‐Old Girl: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Alpha‐mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha‐mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha‐
Samuel Bonilla Fornes, Maria Pilar Mendez Perez, Marta Torres Diaz, Maria Eugenia Sanchez Gutierrez, Enrique Galán Gómez   +4 more
wiley   +1 more source

Expert Treatment Considerations for Lower Face and Neck Rejuvenation

Dermatological Reviews, Volume 7, Issue 4, August 2026.
ABSTRACT Background The lower face and neck are essential to overall facial harmony and a balanced appearance. Although most nonsurgical treatments have focused on the upper and midface, a variety of minimally invasive options are now available for treating the lower face and neck that target different aesthetic concerns and provide welcome ...
Sabrina Fabi, John Fezza, Jeremy B. Green, Jean Carruthers, Nazanin Ashourian, Elena Dimitrijevic, Steven Yoelin   +6 more
wiley   +1 more source

A first in disease trial of the safety, tolerability, and anti‐seizure effects of ES‐481 in drug‐resistant epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1329-1342, August 2026.
Abstract Objectives ES‐481 is a novel potent and selective antagonist of TARP‐y8‐dependent AMPA receptors. We aimed to assess the potential efficacy, safety and tolerability, and pharmacokinetics of different doses of ES‐481 as an add‐on anti‐seizure medication (ASM) in adults with drug‐resistant epilepsy (DRE). Methods This was a Phase 2A double‐blind,
Emma C. Foster, Lyn Millist, Jack Germaine, Stephanie Chamorro, Caitlin Roberts, John‐Paul Nicolo, Sean Hosking, Piero Perucca, Saul Mullen, Heather Robinson, Rebecca Wharrie, Brittany Walsh, David Reutens, Kimberley Irwin, Hao Zeng, Robert Niecestro, Terence J. O'Brien   +16 more
wiley   +1 more source

Safety Profile of Sclerosing Agents in the Management of Low‐Flow Vascular Malformations of the Head and Neck—A Systematic Review

Head &Neck, Volume 48, Issue 8, Page 2290-2305, August 2026.
ABSTRACT Background Low‐flow vascular malformations (LFVMs) of the head and neck, including venous and lymphatic malformations, represent a heterogeneous group of congenital anomalies frequently requiring intervention due to functional and esthetic impairment.
Riccardo Nocini, Carlotta Muneretto, Athena E. Arsie, Valerio Arietti, Benedetta Lorenzon, Alessandra Cinotti, Giacomo Colletti   +6 more
wiley   +1 more source

Prognostic Value of Cranial Nerve Invasion in T4‐Stage Nasopharyngeal Carcinoma: A Retrospective Cohort Study With a Median Follow‐Up of 136 Months

Health Science Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background The objective of this study was to evaluate the prognostic value of cranial nerve invasion (CNI) in T4‐stage nasopharyngeal carcinoma (NPC) patients with nonmetastatic. Methods We retrospectively analyzed 299 T4‐stage NPC patients with nonmetastatic disease in the Cancer Hospital of Shantou University Medical College.
Cuidai Zhang, Hui Liu, Xuejia Liu, Yihao Ye, Zeman Cai, Zewei Chen, Qizhi Zheng   +6 more
wiley   +1 more source

A Lethal Progressive Neuroinflammation Disguised as MOGAD Revealing a Final Diagnosis of Griscelli Syndrome

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1740-1742, August 2026.
Chiara Veredice, Chiara Arpaia, Ilaria Contaldo, Anna Capasso, Donato Rigante   +4 more
wiley   +1 more source