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Prenatal Exome Sequencing Identifies Dual Maternal-Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia.
Prenat Diagn
January 2025
Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, California, USA.
Article Synopsis
- Prenatal exome sequencing (ES) successfully identified both fetal and maternal genetic diagnoses, revealing a shared pathogenic gamma globin variant in a fetus with unexplained anemia and a mother with sickle cell disease (SCD).
- The identified variant, HbF Mission Bay HBG2, is linked to various blood-related conditions, including cyanosis and hemolytic anemia, which generally emerge in infancy but can persist into adulthood.
- In this case, the mother's own symptoms from the variant, such as recurrent hypoxia and methemoglobinemia during pregnancy, occurred alongside the fetus's need for multiple blood transfusions and post-birth methemoglobinemia.
Type 1a Duodenojejunal Tubular Duplication Cyst with Complex Rotational Anomaly Masquerading as Chronic Anemia.
J Indian Assoc Pediatr Surg
November 2024
Department of Pediatric Surgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Enteric duplication cysts and reversed intestinal rotation (RIR) are rare congenital anomalies, with their coexistence being exceptionally uncommon. We report a 4-year-old girl who presented with chronic anemia and intermittent abdominal symptoms since infancy. Detailed workup for medical causes of anemia was inconclusive.
View Article and Find Full Text PDFNewborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes.
Pediatr Neurol
November 2024
Division of Pediatric Transplant and Cellular Therapy, Department of Pediatrics, Duke University, Durham, North Carolina.
Article Synopsis
- The study examines the outcomes of hematopoietic cell transplantation (HCT) in infants with Hurler syndrome (HS) diagnosed through newborn screening (NBS).
- Patients underwent a busulfan-based treatment regimen and umbilical cord blood HCT, showing promising results with no graft failures and recovery of enzyme levels.
- At follow-up, most patients were thriving and meeting developmental milestones, suggesting that NBS and early transplantation are effective in treating HS.
Perinatal iron deficiency alters the cardiac proteome and mitochondrial function in neonatal offspring.
Am J Physiol Heart Circ Physiol
January 2025
Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
Iron deficiency (ID) is common during gestation and early infancy and can alter developmental trajectories with lasting consequences on cardiovascular health. Iron plays a critical role in systemic oxygen transport (via hemoglobin) and aerobic respiration (as a component of mitochondrial complexes). Perinatal ID has been shown to cause cardiac dysfunction in neonates, but the mechanisms underlying these changes have not been characterized.
View Article and Find Full Text PDFA Rare THPO Gene Mutation in a Saudi Female Child: A Case Report and Literature Review.
Cureus
September 2024
Pediatrics Genetics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Thrombopoietin (THPO) is a regulator of megakaryopoiesis and thrombopoiesis. Mutation of the gene is known to cause congenital amegakaryocytic thrombocytopenia (CAMT2), which is a rare inherited disorder characterized by early infancy thrombocytopenia and absent or decreased megakaryocytes with gradual progression to pancytopenia. We report the case of a Saudi girl who had been asymptomatic until age seven when she was found to have unexplained thrombocytopenia.
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