Results 61 to 70 of about 360,737 (315)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Incidence and Characteristics of Colon Polyps in Southeast Anatolian Region: A 5-Year Evaluation

Turkish Journal of Colorectal Disease, 2016
Aim: Polyps are one of the most common pathologic indications observed in the lower gastrointestinal system. Colonoscopic polypectomy ensures both the treatment of such lesions and identification of their histopathologic features.
Feyzullah Uçmak, Elif Tuğba Tuncer, Nazım Ekin, Hüseyin Büyükbayram, Muhsin Kaya   +4 more
doaj   +1 more source

Ginsenoside Rb1 Lessens Gastric Precancerous Lesions by Interfering With β-Catenin/TCF4 Interaction

Frontiers in Pharmacology, 2021
Background: Seeking novel and effective therapies for gastric precancerous lesions (GPL) is crucial to reducing the incidence of gastric cancer.
Jinhao Zeng, Jinhao Zeng, Xiao Ma, Ziyi Zhao, Yu Chen, Jundong Wang, Yanwei Hao, Junrong Yu, Zhongzhen Zeng, Nianzhi Chen, Maoyuan Zhao, Jianyuan Tang, Daoyin Gong   +12 more
doaj   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

The prevalence of high dysplastic colonic adenomatous polyps in a 3 year endoscopic retrospective study from a single clinical center

Journal of Mind and Medical Sciences, 2017
Introduction: Many colon neoplastic tumors come from the malignancy of adenomatous polyps (70%-90%) that were not timely diagnosed in order to be resected.
Alexandru C. Septimiu, Cosmin A. Moldovan, Florin D. Ungureanu   +2 more
doaj   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Hip sonography in Switzerland [PDF]

Exploration of Musculoskeletal Diseases
The diagnosis of hip dysplasia has developed very differently in different countries over the last few decades. The development and current situation in Switzerland is described in this paper.
Beat Dubs
doaj   +1 more source

The Space-Time Continuum of Cortical Dysplasia

Cell Reports, 2017
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias D’Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ ...
L. Jansen
semanticscholar   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Sprengel Shoulder with Omovertebral Bone and Left Renal Agenesis in a Paediatric Patient: A Rare Case Report

Journal of Clinical and Diagnostic Research
Sprengel shoulder is a rare congenital anomaly caused by disrupted scapular descent during development. It is associated with hypoplastic or absent muscles such as the trapezius, sternocleidomastoid, and serratus anterior, leading to scapular winging ...
A Roshini Suha Cath, V Revavathi, S Jagadeeswari, S Sundari   +3 more
doaj   +1 more source