Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/0009922819834285 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
STUDY OF CLINICAL MANIFESTATIONS AND ETIOLOGIES OF MEGALOBLASTIC ANEMIA IN CHILDREN.
Transfus Clin Biol
January 2025
Background And Aim: Megaloblastic anemia (MA) is a rare pathology in childhood due, in the majority of cases, to a deficiency of folic acid and/or vitamin B12 (cobalamin). This study aims to determine the epidemiological, clinical, and paraclinical profiles of MA in children and to specify its etiologies, therapeutic modalities, and treatment responses.
Methods: This is a retrospective descriptive study of MA cases in children carried out in the General Pediatrics Department of the Hedi Chaker University Hospital of Sfax over a period of 42 years, from January 1979 to December 2021.
Primary adrenal insufficiency: case study IN 5 tertiary hospitals.
An Pediatr (Engl Ed)
November 2024
Hospital Universitario Miguel Servet, Zaragoza, Spain.
Article Synopsis
- Primary adrenal insufficiency (PAI) is a rare condition in children marked by low production of important hormones, leading to nonspecific symptoms that can make early diagnosis challenging but crucial for effective management.
- A study was conducted with 29 patients diagnosed with PAI at an average age of 5.6 years, revealing various underlying causes, including genetic conditions and autoimmune issues, with many patients experiencing an adrenal crisis at onset.
- Common signs of PAI include asthenia, hyperpigmentation, and hyponatraemia, but even in their absence, the possibility of PAI should still be considered, particularly as ACTH levels remain high despite treatment.
Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromes.
Pediatr Blood Cancer
January 2025
Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Article Synopsis
- Pearson syndrome (PS) and Kearns-Sayre syndrome (KSS) are mitochondrial DNA deletion syndromes with PS causing severe childhood cytopenia and KSS having later onset without blood-related issues, both sharing a common mitochondrial DNA deletion.
- A study of 16 patients revealed that 75% had cytopenia, with many needing blood transfusions, and even after achieving transfusion independence, they showed persistent bone marrow (BM) dysfunction.
- The research highlights that BM dysfunction is a consistent finding in SLSMD syndromes, which raises concerns about potential clonal evolution and chromosome 7 abnormalities, underscoring the need for specialized hematological monitoring for these patients.
Significance of Variants of Uncertain Significance: The Human Cost of Genetic Uncertainty.
Am J Med Genet C Semin Med Genet
November 2024
Department of Pediatrics, Division of Clinical Genetics and Genomics, Weill Cornell Medicine, New York, New York, USA.
This piece narrates the journey of Maria (name of the mother has been altered to protect the family's privacy), a new mother confronting her newborn's unexpected diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, despite undergoing proactive genetic carrier screening within a consanguineous marriage. It highlights the emotional and systemic challenges arising from the lack of diversity in genetic databases, which, in this case, failed to detect pathogenic variants in Maria and her husband. Maria's story sheds light on situations where a masked variant of uncertain significance (VUS) necessitates consultation with a trained genetics specialist and underscores the urgent need for a more equitable healthcare system.
View Article and Find Full Text PDFHypotonia and Poor Weight Gain in a 4-month-old Girl.
Pediatr Rev
June 2024
University of Utah, Salt Lake City, UT.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!