CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +1 more source
Unusual localization of pilocytic astrocytoma at the foramen of Monro mimicking a colloid cyst: a case report and literature review. [PDF]
Balodis A +7 more
europepmc +1 more source
The Current Situation and Development of Endoscopic Ear Surgery in China
ABSTRACT Endoscopic ear surgery has been widely performed in China since 2015 due to the development and rapid popularization of endoscopic technology. Due to the relative shortness of the auditory meatus, only a fixed endoscope is required in many cases, rather than a motion similar to a nasal endoscope, and uncontrollable bleeding is virtually non ...
Meng‐Wen Shi, Ge Yin, Yu Sun
wiley +1 more source
Syringomyelia in the Course of Resection of Foramen Magnum Pathology: A Case Report with an Intriguing Therapeutic Solution and Systematic Review. [PDF]
Rajski R +8 more
europepmc +1 more source
Advancing frameless stereotactic navigation for precise targeting of the foramen ovale during radio-frequency thermal ablation (RFTA) for trigeminal neuralgia in anesthetized patients using triggered electromyography [PDF]
Justin W. Silverstein +3 more
openalex +1 more source
ABSTRACT Objective Chronic otitis media (COM) is a major public health concern, particularly in developing countries. Although complications have decreased with modern antibiotics, they still cause significant morbidity and mortality. This study analyzed the clinical features, bacteriological profiles, and treatment outcomes of COM complications at a ...
Viraporn Atchariyasathian +1 more
wiley +1 more source
Long-term Stable Unilateral Mandibular Deformity Associated With Ipsilateral Skull-base Soft-tissue Lesion and Degenerated Pterygoid Muscles in Neurofibromatosis Type 1. [PDF]
Friedrich RE +3 more
europepmc +1 more source
Prelacrimal Recess‐Pterygoid Window Approach to the Sphenoidal Lateral Recess Skull Base Defects
ABSTRACT Objective The objectives of this study are: (1) to evaluate the prelacrimal recess‐pterygoid window approach (PLR‐PWA) for treating cerebrospinal fluid leaks and meningoencephaloceles (CSFLME) in the sphenoidal lateral recess (SLR). (2) To investigate the pneumatization of the SLR and its relationship with surrounding structures, including the
Zhen‐Xiao Huang +7 more
wiley +1 more source
Clinical Implications of Anatomical Variations in Nerves and Adjacent Structures for Regional Anesthesia: A Narrative Review. [PDF]
Zhang Y, Xu S, Lan H, Ma D, Wang Y.
europepmc +1 more source

