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[Clinical characteristics and prognosis of acute erythroleukemia in children].
Zhongguo Dang Dai Er Ke Za Zhi
January 2025
Department of Children's Hematology and Oncology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Objectives: To investigate the clinical characteristics and prognosis of acute erythroleukemia (AEL) in children.
Methods: A retrospective analysis was conducted on the clinical data, treatment, and prognosis of 8 children with AEL treated at the First Affiliated Hospital of Zhengzhou University from January 2013 to December 2023.
Results: Among the 7 patients with complete bone marrow morphological analysis, 4 exhibited trilineage dysplasia, with a 100% incidence of erythroid dysplasia (7/7), a 71% incidence of myeloid dysplasia (5/7), and a 57% incidence of megakaryocytic dysplasia (4/7).
Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFMultidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
Orphanet J Rare Dis
January 2025
Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.
View Article and Find Full Text PDFMacrolide resistance due to (55).
Microbiol Spectr
January 2025
Institute for Microbial Systems and Society, Faculty of Science, University of Regina, Regina, Saskatchewan, Canada.
Unlabelled: Antimicrobial resistance (AMR) is a global threat. The identification and characterization of novel resistance genes is integral to AMR surveillance. The (55) gene was originally identified through whole genome sequencing of macrolide-resistant strains of .
View Article and Find Full Text PDFDrayer Syndrome due to Chromosome 15q26.3 Deletion: Response to Growth Hormone Treatment.
Sisli Etfal Hastan Tip Bul
December 2024
Division of Pediatric Endocrinology, Department of Pediatrics, University of Health Sciences Türkiye, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Türkiye.
Chromosome 15q26 deletion is a rare condition that causes short stature and is associated with intrauterine growth restriction (IUGR), failure to thrive, congenital heart disease and many congenital malformations. The insulin growth factor receptor (IGF-1R) on chromosome 15 has many important roles, especially in growth regulation. Our case is an 18-month-old small for gestational age girl who presented with severe short stature, microcephaly and minor dysmorphic features.
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