Results 91 to 100 of about 1,197,190 (411)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Evidence of blood–brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objectives This study sought to evaluate proteomic, metabolomic, and immune signatures in the cerebrospinal fluid of individuals with Down Syndrome Regression Disorder (DSRD). Methods A prospective case–control study comparing proteomic, metabolomic, and immune profiles in individuals with DSRD was performed.
Jonathan D. Santoro, Neetha Paul Eduthan, Mellad M. Khoshnood, Saba Jafarpour, Natalie K. Boyd, Benjamin N. Vogel, Lina Nguyen, Lilia Kazerooni, Eleanor Britton, Hannah R. Lyford, Matthew D. Galbraith, Angela L. Rachubinski, Joaquin M. Espinosa   +12 more
wiley   +1 more source

Development and Evaluation of a School Readiness Curriculum for Pediatrics Residents

MedEdPORTAL, 2020
Introduction The American Academy of Pediatrics (AAP) recommends that pediatricians promote school readiness with children and families. To our knowledge, no published resident-focused curricula addressing school readiness are currently available.
Hannah T. Perrin, Heidi M. Feldman, Lynne C. Huffman   +2 more
doaj   +1 more source

Trans-pars-planar illumination enables 200° ultra-wide field pediatric fundus photography for easy examination of the retina [PDF]

arXiv, 2019
This study is to test the feasibility of using trans-pars-planar illumination for ultrawide field pediatric fundus photography. Fundus examination of the peripheral retina is essential for clinical management of pediatric eye diseases. However, current pediatric fundus cameras with traditional trans-pupillary illumination provide a limited field of ...
arxiv  

Procalcitonin in Pediatrics

, 2013
Over the past two decades, the body of literature on the clinical usefulness of procalcitonin (PCT) in adults has grown rapidly. Although this approach has led to increased insight, it has also prompted debate regarding its potential use in diagnosis and management of severe infection.
1, 2)Lucia Pacifico, 3)John F. Osborn, 1)Fabio Natale, 1)Flavia Ferraro, 1)Mario De Curtis, 3) Claudio Chiesa   +6 more
openaire   +4 more sources

Assessment of concurrent neoplasms and a paraneoplastic association in MOGAD

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Cases of myelin oligodendrocyte glycoprotein (MOG) antibody‐associated disease (MOGAD) co‐occurring with neoplasms have been reported. In this international, retrospective cohort study in South Korea and the USA, 16 of 445 (3.6%) patients with MOGAD had concurrent neoplasm within 2 years of MOGAD onset, resulting in a standardized incidence ...
Young Nam Kwon, Nanthaya Tisavipat, Yong Guo, Stephanie B. Syc‐Mazurek, Ji Yeon Han, Jun‐Soon Kim, Kyomin Choi, Seong‐il Oh, Seok‐Jin Choi, Eunhee Sohn, Jeeyoung Oh, Seung Woo Kim, Ha Young Shin, Byung Chan Lim, Byoung Joon Kim, Kyung Seok Park, Jung‐Joon Sung, Se Hoon Kim, Sung‐Hye Park, Anastasia Zekeridou, Claudia F. Lucchinetti, Sean J. Pittock, John J. Chen, Eoin P. Flanagan, Sung‐Min Kim   +24 more
wiley   +1 more source

Zero-Shot Pediatric Tuberculosis Detection in Chest X-Rays using Self-Supervised Learning [PDF]

21st IEEE International Symposium on Biomedical Imaging (ISBI 2024), Athens, Greece
Tuberculosis (TB) remains a significant global health challenge, with pediatric cases posing a major concern. The World Health Organization (WHO) advocates for chest X-rays (CXRs) for TB screening. However, visual interpretation by radiologists can be subjective, time-consuming and prone to error, especially in pediatric TB. Artificial intelligence (AI)
arxiv   +1 more source

Clinical impact and safety of brain biopsy in unexplained central nervous system disorders: a real‐world cohort study

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown.
Robin W. van Steenhoven, Saan Salih, Juna M. de Vries, Ide Smets, Rob M. Verdijk, Mayke Gardeniers, Jeroen Kerstens, Juliette Brenner, Yvette S. Crijnen, Marjolein Geurts, Jacoline E. C. Bromberg, Corine H. GeurtsvanKessel, Peter A. E. Sillevis Smitt, Rutger K. Balvers, Maarten J. Titulaer   +14 more
wiley   +1 more source

Combined Systemic Immunotherapy and Intrathecal Dexamethasone in Febrile Infection Related Epilepsy Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Febrile infection related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus with immune dysregulation as a potential pathologic mechanism. Despite promising results from second‐line immunomodulators, approximately 30% remain refractory to treatment.
Kristen S. Fisher, Alexander Ankar, Jon Cokley, Eyal Muscal, James J. Riviello, Yi‐Chen Lai   +5 more
wiley   +1 more source

Pediatric Mastocytosis

Journal of Investigative Dermatology, 1991
The onset of mastocytosis occurs between birth and 2 years of age in approximately 55% of all cases; an additional 10% develop the disease before the age of 15 years. Mastocytosis in these age groups differs in many respects from mastocytosis that has its onset in adulthood. The typical presentation of pediatric-onset mastocytosis consists of cutaneous
Kettelhut, Brett V., Metcalfe, Dean D.
openaire   +4 more sources