Results 51 to 60 of about 77,987 (266)

Drug Repurposing for Treating NCOR‐Related Intellectual Disability

Advanced Science, EarlyView.
An autism‐associated NCOR1 heterozygous mutation upregulates NRGs and activates NRG backward signaling in hypothalamic GABAergic neurons in mouse models, leading to Gabra2 downregulation and cognitive deficits, which can be therapeutically targeted by repurposing FDA‐approved drugs.
Yan Kong, Wenjun Zhou, Yuxiang Sun, Zihan Huang, Zhiyue Liu, Udhaya Kumar. S, Chenyan Li, Yi Lu, Chengchuang Song, Veronica C. Ciliberto, Makenna Mack, Lana E. Kim, Zhaoyong Hu, Fang Luo, Aihua Cao, Zheng Sun   +15 more
wiley   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Peripherally inserted central catheter line-induced fevers: a case report

Journal of Medical Case Reports
Background Peripherally inserted central catheter lines are increasingly common as medical innervation advances. Peripherally inserted central catheter lines are generally well tolerated with few complications, the most common being pain, bleeding, line ...
Catherine van’t Hoff, Benjamin H. L. Harris, Ahilan Kailaya-Vasan, Michael B. Fertleman, Louis J. Koizia   +4 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Persistent Interleukin‐18 Fuels Expansion of CD38+HLA‐DR+CD8+ T Cells in Still Disease and Macrophage Activation Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease (SD) is an autoinflammatory disorder characterized by remarkably high interleukin‐18 (IL‐18) levels. Increasing evidence suggests that adaptive immunity also contributes to its pathogenesis, particularly in refractory courses. Macrophage activation syndrome (MAS), one of SD's most severe complications, is associated with further
Greta Rogani, Remco G. A. Erkens, Alejandra Bodelón, Tim R. Mocking, Marein T. M. Putmans, Freya M. C. H. Huijsmans, Lyanne J. P. M. Sijbers, Aafke M. De Ligt, Maurice J. H. Van Haaren, Rianne C. Scholman, Noël M. M. Dautzenberg, Joyce I. Meesters‐Ensing, Martina Rossano, Laura Porretti, Stefan Nierkens, Francesca S. Minoia, Sebastiaan J. Vastert, Jorg van Loosdregt   +17 more
wiley   +1 more source

A PROSPECTIVE STUDY OF BRUCELLOSIS IN CHILDREN: RELATIVE FREQUENCY OF PANCYTOPENIA

Mediterranean Journal of Hematology and Infectious Diseases, 2013
Hematological complications in brucellosis are common. Pancytopenia, although mainly reported in adults has also been described in children with brucellosis.
Mohamed El Koumi, Mona Afify, Salha Al-Zahrani   +2 more
doaj   +1 more source

A Common But Usually Overlooked Cause of Fever of Unknown Origin: Still’s Disease

Bagcilar Medical Bulletin, 2022
A wide variety of causes, ranging from bacterial or viral infections to malignancies, may be responsible from the development of fever of unknown origin (FUO).
Caner Varhan, İhsan Solmaz, Süleyman Özçaylak, Zeynep Kutlu, Elif Anık, Ahmet Engin Atay   +5 more
doaj   +1 more source

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source

Contemporary management of pain in cirrhosis: Toward precision therapy for pain

Hepatology, EarlyView., 2022
Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman, Neehar Parikh, Dan J. Clauw, David A. Williams, Elliot B. Tapper   +4 more
wiley   +1 more source

Difficulties in Diagnosing a Patient with Fever of Unknown Origin

Архивъ внутренней медицины
Fever of unknown origin is a difficult syndrome for differential diagnosis. Absence of a key feature, variety of causes and the lack of single examination algorithm makes difficult further diagnosis.
E. I. Fomina, E. E. Gubernatorova, T. V. Adasheva, T. V. Baturina, P. S. Samoszhenova, N. U. Timofeeva   +5 more
doaj   +1 more source