Down syndrome (DS) is a common genetic disorder and is associated with an increased likelihood of many diseases, including defects of the heart, genitourinary system, gastrointestinal tract, and oncological diseases. The aim of this study was to analyze medical problems occurring in newborns with DS and to create a basic diagnostic and therapeutic algorithm intended primarily for neonatologists, pediatricians, family physicians, and physicians of other specialties caring for children with DS. Over a 5-year period, the medical records of 161 neonates with Down syndrome from four neonatology departments in Poznan, Poland, were examined. After applying exclusion criteria, 111 patients were analyzed. Data obtained from medical history included sex, week of gestation, birth weight, APGAR score, clinical symptoms, peripheral blood count with smear, and clinical features such as jaundice, hemorrhagic diathesis, ascites, hepato- or splenomegaly, pericardial or pleural effusion, respiratory failure, and other rare transient signs of abnormal myelopoiesis: fetal edema, hepatic fibrosis, renal failure, and rush. In the study group, 8% of children with Down syndrome were diagnosed with a heart and 1.8% with a genitourinary defect. Transient abnormal myelopoiesis syndrome (Transient abnormal myelopoiesis (TAM)) was found in 10% of newborns with DS. A blood count with blood smear, cardiology consultation with echocardiography, and an abdominal ultrasound should be performed in the first few days after birth in all newborns with Down syndrome. If this is not possible and the child's condition is stable, these tests can be performed within 2-3 months after birth.
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http://dx.doi.org/10.3390/ijerph19159774 | DOI Listing |
Ann Hematol
December 2024
Division of Hematology, Department of Medicine, Keio University School of Medicine, Tokyo, Japan.
Transient abnormal myelopoiesis (TAM) generally affects newborns with Down syndrome and is associated with constitutional trisomy 21 and a somatic GATA1 mutation. Here we describe a case of TAM which evolved after umbilical cord blood transplantation (UCBT), whose origin was identified as a GATA1 mutation-harboring clone in umbilical cord blood (UCB) by detailed genetic analyses. A 58-year-old male who received UCBT for peripheral T-cell lymphoma presented progressive anemia and thrombocytopenia, and leukocytosis with blast cells in the peripheral blood (PB).
View Article and Find Full Text PDFPathol Int
December 2024
Department of Obstetrics and Gynecology, Saiseikai Kawaguchi General Hospital, Kawaguchi, Japan.
iScience
November 2024
Max-Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Robert-Rössle-Street 10, 13125 Berlin, Germany.
The transcription factor CCAAT enhancer binding protein alpha (C/EBPα) is a master regulator of myelopoiesis. encodes a long (p42) and a truncated (p30) protein isoform from a single mRNA. Mutations that abnormally enhance expression of p30 are associated with acute myelogenous leukemia (AML).
View Article and Find Full Text PDFCase Rep Hematol
October 2024
Rouen University Hospital, Department of Biological Hematology, Rouen 76000, France.
Down syndrome (DS) is defined by an extra copy of chromosome 21 and confers an increased susceptibility to hematological disorders. Transient abnormal myelopoiesis (TAM) and myeloid-leukemia associated with Down syndrome (ML-DS) are two conditions that need to be accurately diagnosed to provide appropriate management. Both TAM and ML-DS are characterized by proliferation of megakaryoblasts carrying a mutation in the GATA1 gene.
View Article and Find Full Text PDFChildren (Basel)
October 2024
Student Scientific Society, English Division, Poznań University of Medical Sciences, 61-701 Poznań, Poland.
The multisystemic features of Down syndrome (DS) in children are accompanied by immunodeficiency, making them susceptible to infections and immune dysregulation with autoimmune, allergic, inflammatory, and hematological complications. This study was aimed at a better understanding of the abnormalities within the B and T cell compartments and their correlations with clinical immunophenotypes. Medical records of 35 DS children were retrospectively reviewed, referring to clinical symptomatology including history of infections, immune dysregulation disorders, and humoral and cellular immune response.
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