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Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.
Am J Med Genet A
December 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%-50% of patients. This phenotypic variability is partially explained by genotype-phenotype correlations, with several ribosomal protein genes implicated in this disorder. Most cases are due to de novo variants, but familial occurrences highlight variable expressivity and reduced penetrance.
View Article and Find Full Text PDFMechanical thrombectomy by stent retriever for the treatment of arterial ischemic stroke in a pediatric patient with acute lymphoblastic leukemia: a case report.
Ann Med Surg (Lond)
December 2024
Department of Radiology, Shohadaye Tajrish Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Article Synopsis
- Arterial ischemic stroke (AIS) in children, especially those with childhood leukemia, is a rare but serious condition that can lead to long-term disabilities, with a lack of established guidelines for treating it in pediatric patients.
- A case of a 13-year-old girl with acute lymphoblastic leukemia highlights successful mechanical thrombectomy using advanced devices, which allowed for effective recanalization of affected arteries.
- Despite emerging evidence supporting mechanical thrombectomy for children with AIS, definitive guidelines are still lacking, emphasizing the need for urgent, specialized care by a multidisciplinary team for optimal patient outcomes.*
Gut microbiome in children undergoing hematopoietic stem cell transplantation.
Best Pract Res Clin Gastroenterol
September 2024
Department of Oncology, Pediatric Hematology, Clinical Transplantology and Pediatrics, Medical University of Warsaw, Poland.
Hematopoietic stem cell transplantation (HSCT) is used in children as a treatment for various cancers, e.g. acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), or other diseases, e.
View Article and Find Full Text PDFA large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia.
J Clin Immunol
November 2024
Faculty of Medicine, Ihsan Dogramaci Childrens Hospital, Hacettepe University, Ankara, Turkey.
Chronic neutropenia causes involve nutritional deficiencies and inborn errors of immunity(IEI), such as severe congenital neutropenia. To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology department between 2002-2022.
View Article and Find Full Text PDFA Favourable Outcome in a Congenital Leukaemia Patient With Unique Cytogenetic Abnormalities.
Cureus
September 2024
Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia Health Campus, Kubang Kerian, MYS.
Congenital leukaemia (CL) is an exceptionally uncommon hematologic malignancy originating intrauterine and is typically associated with an unfavourable prognosis. The present case is a seven-day-old Malay baby girl who presented with mild fever and hepatosplenomegaly. She was initially treated as neonatal sepsis however subsequent investigations with bone marrow, trephine biopsy and immunophenotyping were consistent with B acute lymphoblastic leukaemia.
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