Results 51 to 60 of about 2,231,881 (293)

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

The Scholarly Studio: Developing a new aesthetic of the multi-camera television studio as an academic research tool [PDF]

, 2016
This paper examines the potential to develop live multi-camera screen production methods as a scholarly tool. Drawing on experimental work in broadcasting in the 1970s and early 1980s, exemplified by The Journal of Bridget Hitler (BBC1981 – dir Philip ...
Hearing, Trevor
core  

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Screening methods for age-related hearing loss in older patients with cancer: A review of the literature [PDF]

, 2018
© 2018 by the authors. As people grow older, they may experience loss in hearing sensitivity. Age-related hearing loss may negatively affect the patient's quality of life as it may lead to social isolation. In older patients with cancer, hearing loss can
Boterberg, T., Cool, L., Debruyne, P.R., Lefebvre, T., Lycke, M., Schofield, Patricia, Van Eygen, K.   +6 more
core   +5 more sources

Chondroblastoma Located in the Anterior Skull Base: A Case Report and Comprehensive Literature Review

Case Reports in Otolaryngology
Conclusion: We presented a successful case of surgical resection of a chondroblastoma in the anterior skull base. Additionally, we reviewed the existing literature and previously documented cases.
Mohsen Fazli, Mahdi Khajavi, Sara Mohammadi, Amir Zaker, Mohammad Jalili, Farzin Davoodi, Narges Bazgir, Nader Akbari   +7 more
doaj   +1 more source

Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting, Du Liping, Yang Yi, Hu Jin, Ye Bijun, Wang Jianer, Liu Shuangsi, Guo Shunyuan, Cai Xiaofeng, Wang Huiyuan, Wu Bin, Yu Xiang, Shi Tianming   +12 more
wiley   +1 more source

Synchrony, complexity and directiveness in mothers\u27 interactions with infants pre- and post-cochlear implantation [PDF]

, 2014
This study investigated effects of profound hearing loss on mother–infant interactions before and after cochlear implantation with a focus on maternal synchrony, complexity, and directiveness.
Bergeson, Tonya R., Fagan, Mary K., Morris, Kourtney J.   +2 more
core   +1 more source

Fair Hearing in Administrative Rule-Making: A Recent Experience Under the Federal Food, Drug, and Cosmetic and Fair Packaging and Labeling Acts [PDF]

, 1968
In promulgating regulations to govern the labeling of foods under the Fair Packaging and Labeling Act, the Commissioner of Food and Drugs, despite the objections of adversely affected parties, denied all requests for a public hearing. In this article the
Forte, Wesley E.
core   +2 more sources

The Stimulation of Polymodal Sensory Perception by Skarżyński (SPPS-S): comparison of stationary and remote therapy results

Finnish Journal of eHealth and eWelfare, 2023
Hearing is a sense, which has a significant impact on a child’s development. Disorders connected with hearing can have impact in a various form and affect each area of life.
Piotr Henryk Skarżynski, Natalia Czajka, Elżbieta Gos, Henryk Skarżyński   +3 more
doaj   +1 more source

The Case of a 25‐Year‐Old Woman With Isolated Head Tremor

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao, Zhihong Xu, Xingyu Zhuang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji   +5 more
wiley   +1 more source