Results 51 to 60 of about 18,365 (193)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Similarities and Differences Between COVID-19-Related Multisystem Inflammatory Syndrome in Children and Kawasaki Disease

Frontiers in Pediatrics, 2021
In December 2019, the first case of coronavirus disease (COVID-19) was first reported in Wuhan, China. As of March 2021, there were more than 120 million confirmed cases of COVID-19 and 2.7 million deaths.
Min-Sheng Lee, Yi-Ching Liu, Ching-Chung Tsai, Ching-Chung Tsai, Jong-Hau Hsu, Jong-Hau Hsu, Jiunn-Ren Wu, Jiunn-Ren Wu   +7 more
doaj   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

CATAMNESTIC OBSERVATION IN CHILDREN AFTER SARS-CoV-2-ASSOCIATED MULTISYSTEM INFLAMMATORY SYNDROME

Актуальные проблемы теоретической и клинической медицины
Existing data on the follow-up of children with SARS-CoV-2-associated Multisystem Inflammatory Syndrome are limited.The purpose of this study. To investigate the medium and long-term consequences of Multisystem Inflammatory Syndrome in children who had ...
I. S. Dzhaksybayeva, R. Z. Boranbayeva, M. G. Bulegenova, A. Zh. Akhenbekova, V. German   +4 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Abdominal manifestation of multisystemic inflammatory syndrome in children

Journal of Pediatric Surgery Case Reports, 2021
Multisystemic inflammatory syndrome (MIS-C) can develop as a complication of SARS CoV-2 infection, involving the gastrointestinal system mainly by vasoconstriction, edema, glandular hyperplasia, and a procoagulant state leading to direct tissue injury.ology: a series of cases including 8 patients with MIS-C treated in two highly complex institutions is
Iván José Ardila Gómez, Pilar Pérez López, Darling Carvajal Duque, Doris Martha Salgado García, Andres Felipe Romero, Martha Rocío Vega Vega, Jorge Andres Ramos Castañeda   +6 more
openaire   +3 more sources

Chronic Rhinosinusitis and Nasal Polyps in Eosinophilic Granulomatosis With Polyangiitis: A Scoping Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is one of the most common manifestations of eosinophilic granulomatosis with polyangiitis (EGPA), often preceding the diagnosis of systemic vasculitis by several years. The sinonasal presentation of EGPA typically resembles CRS with nasal polyps (CRSwNP), making it clinically indistinguishable from those
Alisha Sharma, Alyssa Y. Li, Teruko Kishibe, Dennis Wong, Kevin M. Sanders, Maggie Jiang, Heedo Lee, Christine Song, Kieran Mcintyre, Christian Pagnoux, Yvonne Chan, John M. Lee, Daniel J. Lee   +12 more
wiley   +1 more source

Clinical Profile, Outcome, and Short-Term Follow-up of Pediatric Multisystem Inflammatory Syndrome Cases in a Tertiary Care Center of Western India

APIK Journal of Internal Medicine
Background: There are several reports of the pediatric multisystem inflammatory syndrome associated with COVID-19 in children globally. The current Indian data on PIMS-TS associated with COVID-19 are scarce.
Qury Nagadia, Ghosha Nilesh Pandav, Nidhi Dhamecha, Suhani Patel, Anurag Gupta, Nehal Patel   +5 more
doaj   +1 more source

Heterogeneity in the evaluation of suspected MIS-C: a cross-sectional vignette-based survey

BMC Pediatrics, 2022
Background and Objectives Multisystem Inflammatory Syndrome in Children (MIS-C) is an emerging complication of COVID-19 which lacks a definitive diagnostic test and evidence-based guidelines for workup. We sought to assess practitioners' preferences when
Claudia A. Rosu, Anna M. Martens, Jeffrey Sumner, Eva J. Farkas, Puneeta Arya, Alexy Boudreau Arauz, Vandana L. Madhavan, Hector Chavez, Shawn D. Larson, Oluwakemi Badaki-Makun, Daniel Irimia, Lael M. Yonker   +11 more
doaj   +1 more source

Multisystem pediatric inflammatory syndrome associated with COVID-2019 in the Zaporizhzhia region

Patologìâ, 2023
The aim is to familiarize with the clinical signs of the multisystem inflammatory syndrome associated with COVID-19, based on the analysis of its course in children of the Zaporizhzhia region of Ukraine. Materials and methods. A retrospective analysis
O. V. Usachova, D. V. Aleksiuk
doaj   +1 more source