Results 131 to 140 of about 917,021 (263)

Perceptions of healthcare professionals and community members on acute febrile illness management in Maputo and Quelimane City: a qualitative study. [PDF]

BMJ Open
Monteiro VDCO, Nhassengo P, Muamine E, Alho P, Manganhe Y, Zandamela A, Cambe MI, Gudo ES, Craveiro I.   +8 more
europepmc   +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

Possible Gastroenterological Causes of FUO (Fever of Unknown Origin). [PDF]

J Clin Med
Cichy O, Wojno A, Wojno A, Karwowska A, Dróżdż O, Rabczyński M, Madziarska K.   +6 more
europepmc   +1 more source

Subtotal Versus Total Splenectomy in Children With Sickle Cell Disease: Clinical Outcomes and Splenic Function Assessed by Pocked Red Blood Cell Count

American Journal of Hematology, EarlyView.
Alma Al Sibaaie, Abdoulaye Sissoko, Carmen Capito, Christophe Chardot, Mariane de Montalembert, Valentine Brousse, Joséphine Brice, Martina Bevacqua, Camille Roussel, Lucie Dumas, Astan Cissé, Pierre Buffet, Slimane Allali   +12 more
wiley   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Acute Q Fever in an Elderly Traveler with Multiple Comorbidities Diagnosed by Blood mNGS and Resolved with Omadacycline. [PDF]

Infect Drug Resist
Li JZ, Guan SY, Zhang JF, Zheng JN.
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Dilemma between knife and needle for acute abdominal pain in familial Mediterranean fever: Two case reports and literature review. [PDF]

World J Clin Pediatr
Sira AM, Shoeir SA, Sira MM.
europepmc   +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

Yellow Fever Virus Surveillance in Callithrix spp. Marmosets during Epizootic Outbreak, Brazil, 2024-2025. [PDF]

Emerg Infect Dis
Siconelli MJL, de Almeida Dias JC, Machado EF, Cunha MS, de Azevedo Fernandes NCC, Guerra JM, Bonon L, Salomão AB, Werther K, Bürger KP, Carvalho AAB, Marques D, Lopes da Fonseca BA.   +12 more
europepmc   +1 more source