Results 151 to 160 of about 91,442 (240)

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

A Rare Case of Neonatal-Onset Diarrhea Due to Congenital Tufting Enteropathy: Clinical, Histopathological, and Genetic Insights. [PDF]

Reports (MDPI)
Rogalidou M, Dimakou K, Stefanaki K, Patereli A, Papadopoulou A.   +4 more
europepmc   +1 more source

AMETHYST: A Retrospective Cohort Study of Treatment Patterns and Outcomes in Patients With Glucocorticoid‐Refractory Macrophage Activation Syndrome Complicating Still's Disease

Arthritis &Rheumatology, EarlyView.
Objective Information is limited on the natural history and current treatment patterns in macrophage activation syndrome (MAS), a life‐threatening hyperinflammatory syndrome complicating Still's disease (systemic juvenile idiopathic arthritis [sJIA] and adult‐onset Still's disease [AOSD]).
Alexei Grom, Jordi Antón, Edward M. Behrens, Corey Best, Norbert Blank, Josefin Blomkvist, Scott W. Canna, Sonia Carriquí, Shanmuganathan Chandrakasan, Andrew Danquah, Ngoc‐Bao Duong, Brian D. Jamieson, Paivi Miettunen, Abiola Oladapo, Sampath Prahalad, Pierre Quartier, Grant Schulert, Anna Stoltenberg, Uwe Ullmann, Erika Van Nieuwenhove, Sebastiaan J. Vastert, Fabrizio De Benedetti   +21 more
wiley   +1 more source

Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study. [PDF]

Nutrients
Kowalik A, Głąb-Jabłońska E, Taybert J, Nogalska M, Sasin-Rokita M, Chełchowska M, Myszkowska-Ryciak J, Sykut-Cegielska J.   +7 more
europepmc   +1 more source

Expert Perspective: Toward Treat‐to‐Target Management in Adult Idiopathic Inflammatory Myopathies

Arthritis &Rheumatology, Accepted Article.
Treat‐to‐target (T2T) has transformed the management of several rheumatic diseases through predefined therapeutic goals, structured disease assessment, and timely treatment adjustment. Despite major advances in the understanding and treatment of idiopathic inflammatory myopathies (IIM), a formal T2T framework for adult IIM has not yet been established.
Shiri Keret, Nantakarn Pongtarakulpanit, Rohit Aggarwal   +2 more
wiley   +1 more source

FEEDSETUP: feeding difficulties spectrum evaluation and treatment up-to-date proposal. [PDF]

J Pediatr (Rio J)
Fisberg M, Nogueira-de-Almeida CA, Konstantyner T.   +2 more
europepmc   +1 more source

Grandparent Prenatal Tobacco, Alcohol, Coffee, and Tea Consumption and Autism in the Third Generation

Autism Research, EarlyView.
ABSTRACT Exogenous prenatal exposures may affect neurodevelopment across multiple generations. We investigated grandmother and grandfather smoking, alcohol, coffee, and tea consumption during pregnancy in relation to their grandchildren's risk of autism spectrum disorder (ASD).
Michelle Pearl, Kimberly Berger, Piera M. Cirillo, Nickilou Y. Krigbaum, Victor Poon, Gayle C. Windham, Barbara A. Cohn   +6 more
wiley   +1 more source

Knowledge Regarding Factors Contributing to Severe Acute Malnutrition and the Lived Experiences of Parents With Children Admitted in a Nutritional Rehabilitation Center in Gujarat, India: A Pilot Study. [PDF]

Cureus
Ev NR, Rasania M.
europepmc   +1 more source

Quality of Life in Autism: A Systematic Review and Meta‐Analysis of Patients and Caregivers

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition associated with significant challenges in daily functioning and well‐being. Caregivers often experience substantial psychological and physical burden. However, comprehensive synthesis of quality of life (QoL) outcomes for both individuals with ASD and their caregivers ...
Kamila Castro, Camila Kümmel Duarte, Eduarda Silva, Laura Hoffmann, Jenifer Lopes Borchardt, Laura Pohl, Josiane Luçardo, Myrella Lapschies, Andreia Morales Cascaes, Ana Amélia Freitas‐Vilela, Adriane Cenci, Juliana S. Vaz   +11 more
wiley   +1 more source