Iron deficiency remains a problem in developing countries as well as in industrial nations. The prevalence of iron deficiency in children under 5 years of age is identical in Europe and the USA, and is in the order of 7 to 9% on average with an anaemia prevalence of 2.3%. The major cause is dietary deficiency, particularly in premature babies, infants, teenagers, and children in unstable situations. It is important to prevent the development of anaemia, especially in infants, due to its morbid consequences particularly with respect to development. Screening and simple preventative measures (iron supplements and dietary advice) need to be systematically set up, particularly in at-risk populations, and are detailed in the present article.
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http://dx.doi.org/10.1016/j.arcped.2012.04.004 | DOI Listing |
J Thromb Haemost
January 2025
Amsterdam UMC location University of Amsterdam, Department of Pediatric Hematology, Meibergdreef 9, Amsterdam, The Netherlands. Electronic address:
Persons with hemophilia A (PWHA) lack clotting factor VIII (FVIII) due to a genetic mutation in the F8 gene. The administration of FVIII concentrate leads to the development of neutralizing anti-FVIII antibodies (inhibitors) in about 30% of children with severe hemophilia A. The other 70% of children do not mount a detectable antibody response, suggesting that they may have developed tolerance towards FVIII.
View Article and Find Full Text PDFClin Chim Acta
January 2025
Background: Citrin deficiency (CD) is an autosomal recessive metabolic disorder affecting the urea cycle and energy production. Diagnosis involves measuring ammonia, amino acid levels (eg: citrulline), with confirmation through solute carrier family 25 member 13 (SLC25A13) gene mutation analysis. Herein, we present a case report of a variant in the SLC25A13 gene that has not been previously reported in the literature.
View Article and Find Full Text PDFJ Mycol Med
January 2025
University of Illinois College of Medicine Peoria, Peoria, IL, USA; Children's Hospital of Illinois, Peoria, IL, USA. Electronic address:
Background: Histoplasmosis is the most prevalent endemic mycosis in the United States, typically affecting immunocompromised individuals. Diagnosis of histoplasmosis in immunocompetent patients is rare, particularly among young infants, with only a few cases reported.
Case Presentation: We present a 4-month-old female with a history of prematurity who initially presented with 11 days of fever.
Orphanet J Rare Dis
January 2025
Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Binjiang District, Hangzhou, 310053, Zhejiang, China.
Purpose: To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn screening (NBS), we analyzed the metabolic profiles of missed patients and proposed a more reliable method for early diagnosis.
Methods: In this retrospective study, NICCD patients were classified into "Newborn Screening" (64 individuals) and "Missed Screening" (52 individuals) groups. Metabolic profiles were analyzed using the non-derivatized MS/MS Kit, and genetic mutations were identified via next-generation sequencing and confirmed by Sanger sequencing.
BMC Pediatr
January 2025
Department of Research, School of Graduate studies, Research and Innovations, Clarke International University, Kampala, P.O. Box 7782, Uganda.
Background: Anaemia is a major cause of morbidity among children under five years in Uganda. However, its magnitude among refugee populations is marginally documented. In this study, the prevalence and contributors to anaemia among children 6 to 59 months in Kyangwali refugee settlement in Western Uganda was determined.
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