Results 101 to 110 of about 39,112 (243)

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, Volume 110, Issue 4, Page 480-486, October 2026.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Kyphosis index obtained in X-ray and with flexicurve assessment in children and young people

Revista Brasileira de Saúde Materno Infantil
Objectives: to assess the concurrent validity of kyphosis index measured in the flexicurve from the correlation of X-rays exams, identifying its accuracy and to assess the thoracic spine in children and young people.
Rafael Paiva Ribeiro, Bárbara Vendramini Marchetti, Eduardo Bojunga de Oliveira, Claúdia Tarragô Candotti   +3 more
doaj   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, Volume 110, Issue 4, Page 438-448, October 2026.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1903-1918, September 2026.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

TME/NIR Dual‐Responsive Zinc‐Based Targeted Nanoagonist for Multimodal Amplification of STING‐Mediated Cancer Immunotherapy

Advanced Science, Volume 13, Issue 49, 3 September 2026.
A multifunctional nanoagonist (cDZ@IP) enables nano‐metabolite–driven multimodal activation of the STING pathway and enhanced immune recognition, achieving potent antitumor immunity and suppressing tumor growth and metastasis. This strategy highlights the rational design of therapeutic metabolites and establishes a new paradigm bridging nanomedicine ...
Kepeng Hu, Jiawei Wang, Wei Zhang, Zhixuan Wu, Jing Chen, Yujing He, Xiyue Duan, Yaoting He, Xin Xin, Haoyi Xiang, Yijing Wang, Chengwei Wu, Yang Yi, Qing Meng, Yuqian Qiao, Kui Cheng, Xiaojun Long, Zhangfa Song   +17 more
wiley   +1 more source

Comparison of thorasis kyphosis and postural stiffness between elderly females and males in Tehran elderly recreation association

Ṭibb-i Tavānbakhshī, 2013
Background and Aim: Hyperkyphosis can lead to reduced respiratory capacity, postural disturbance and increased risk of falling. Despite the evidences about the more postural stiffness and kyphosis in elderly compared with young subjects and despite the ...
Minoo Khalkhali zavieh, Somayeh Mahmoodiaghdam, Maryam Nodehi, Shiva Mosavi   +3 more
doaj  

Surgical Correction of Thoracic and Thoracolumbar TB Kyphosis by Posterior Only Approach Using Rajasekaran’s Kyphosis Classification

Global Spine Journal
Study design Prospective analysis of retrospective data. Objectives To analyse the clinical and radiological outcomes of thoracic and thoracolumbar TB kyphosis by a posterior-only approach using kyphosis classification. Methods Patients with thoracic and
Guna Pratheep Kalanjiyam MS, DNB, FNB, Karthik Ramachandran MS, DNB, FNB, Shanmuganathan Rajasekaran PhD, Ajoy Prasad Shetty MS, DNB, Rishi Mugesh Kanna MS, MRCS, FNB   +4 more
doaj   +1 more source

Junctional Kyphosis after Long Segment Fusion

Global Spine Journal, 2016
Introduction The incidence of junctional kyphosis (JK) varies in the literature from 7% to 40%. We here present our experience with JK. The aim of this work is investigate the incidence of JK after long spinal segment fusion, to identify the underlying ...
Mohammad El-Sharkawi, Wael Gad, Amer Elkott, Hamdy Tammam, Mohamed El-Meshtawy   +4 more
doaj   +1 more source

α‐Synuclein Aggregate‐Disassembling Compounds Prolong Survival in a Mouse Model of Parkinson's Disease

Aggregate, Volume 7, Issue 9, September 2026.
All‐D peptides that bind monomeric α‐synuclein shift the aggregation equilibrium, dismantle pathogenic fibrils, and suppress seeding activity in vitro and in cells. In a Parkinson's disease mouse model, treatment delays disease progression and extends survival, supporting direct aggregate disassembly as a disease‐modifying therapeutic strategy for ...
Sara Reithofer, Marc Sevenich, Madita Vollmer, Dila Kurtul, Laura Müller, Pelin Özdüzenciler, Laurin Gerhards, Kira Allmeroth, Mathias Wendt, Fahimeh Charbgoo, Sarah Schemmert, Marcel Naumann, Karolina Korostov, Gina Hartmann, Lothar Gremer, Gültekin Tamgüney, Dieter Willbold, Antje Willuweit   +17 more
wiley   +1 more source

Is correction of segmental kyphosis necessary in single-level anterior cervical fusion surgery? An observational study

, 2018
Jian Lu,1,* Changjun Sun,2,* Jiangbo Bai,1,* Siyu Tian,1,* Bing Zhang,1 Dehu Tian,1 Lingde Kong1 1Department of Orthopedics, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051, China; 2Department of Emergency, The Second ...
Kong L, Lu J, Sun C, Tian S, Tian D, Bai J, Zhang B   +6 more
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