Results 121 to 130 of about 2,526,034 (245)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Niñas y niños involucrados en procesos de sustracción familiar en México

Revista Latinoamericana en Ciencias Sociales, Niñez y Juventud, 2011
The purpose of this paper is to provide elements for a broader discussion of the challenges faced bychildren who are involved in family disruption, and in particular, custody battles and abduction by a family member.
Edith Carrillo
doaj  

Molecular Diagnosis in Children With Febrile Seizures: Beyond the Conventional Clinical Classification

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang, Mengna Zhang, Yangyang Wang, Xiuyu Shi, Baoguang Li, Xiuxia Wang, Dan Sun, Sanqing Xu, Jianbo Zhao, Lijun Du, Qiming Pang, Xiaoming Liu, Chunhui Tang, Xiaohua Li, Jiuwei Li, Yanli Ma, Jianxiang Liao, Gulixian Abudureyimu, Jianmin Liang, Yuan Wang, De Wu, Jian Wu, Liping Zou   +22 more
wiley   +1 more source

Intersections: Gender Law and Literature

, 2009
The 2009 Intersections: Gender Law and Literature is a program showcasing Women's and Gender Studies student papers, projects and presentations.College of Arts and ...
Women's and Gender Studies
core  

Distinct Systemic Sclerosis Phenotypes Related to Ethnicity: An Opportunity to Personalize Care?

Arthritis Care &Research, EarlyView.
Objective The objective is to describe and compare demographic, clinical, and serological characteristics of patients with systemic sclerosis (SSc) according to ethnic background. Methods Participants enrolled in the Canadian Scleroderma Research Group cohort who self‐identified to a single ethnicity group were included.
Danick Goulet, Camille Guertin, Maggie Larché, Isabelle Ferdinand, Marie Hudson, May Y. Choi, Mohammed Osman, Janet Pope, Carter Thorne, Murray Baron, Sasha Bernatsky, Sabrina Hoa   +11 more
wiley   +1 more source

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)

Arthritis Care &Research, EarlyView.
Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram, Heřman Mann, Danielle Hammond, Onima Chowdhury, Sinisa Savic, Yohei Kirino, Carmelo Gurnari, Maël Heiblig, Thibault Comont, Arsène Mekinian, Mrinal M. Patnaik, Lachelle D. Weeks, Gary Ho, Adam Al‐Hakim, Scott Goldberg, Marcela A. Ferrada, Sophie Georgin‐Lavialle, Peter C. Grayson, Emma M. Groarke, Bhavisha Patel, Megan Sullivan, Sarah A. Buckley, Bryan G. Harder, Raman Garcha, David B. Beck, Matthew J. Koster   +25 more
wiley   +1 more source

Short‐Term Response to Biologic Therapy in Psoriatic Arthritis Is Not Influenced by Disease Duration at Initiation of Therapy

Arthritis Care &Research, EarlyView.
Objective We aimed to determine whether the short‐term response to biologics in biologic‐naive psoriatic arthritis (PsA) is better in patients initiating biologic treatment early in the disease course. Methods Patients with PsA who started on biologic therapy from the year 2000 to 2025 were included for analysis.
Sung Min Cho, Shangyi Gao, Daniel Pereira, Richard J. Cook, Dafna D. Gladman   +4 more
wiley   +1 more source

Factors Associated With Fibromyalgia Diagnosis Among People Meeting Criteria: Results From UK Biobank

Arthritis Care &Research, EarlyView.
Objective The diagnosis of fibromyalgia (FM) is challenging due to the absence of definitive biomarkers, numerous overlapping comorbidities, and its reliance on patient‐reported symptoms. Discrepancies between diagnostic criteria and clinical practice imply the possibility of diagnostic biases, complicating timely and accurate identification.
Sung‐A Kim, Gary J. Macfarlane, Marcus J. Beasley   +2 more
wiley   +1 more source

The effectiveness of cognitive and metacognitive strategies\' instruction on intelligence beliefs of senior high schoolers according to the role of gender [PDF]

مجله علوم روانشناختی
Background: Paying attention to cognitive factors can create a balance and fit in individual characteristics, and the result of this work is to increase the efficiency of the educational system and ensure the academic success of students.
Saber Alizadeh, Ramin habibikaleybar, Abolfazl Farid, Gholamreza Golmohammadnezhad bahrami   +3 more
doaj