Placental tumors are rare in pregnancy. They cause nonspecific complications such as polyhydramnios, fetal anemia, fetal thrombocytopenia and cardiac decompensation with non-immunological hydrops fetalis. In the presented case a very large placental hemangioma was connected with polyhydramnios, premature delivery, fetal anemia and thrombocytopenia, maternal serum alpha fetoprotein elevation and congenital lactic acidosis. After delivery a severe state of the newborn was caused by oligovolemic shock. In the course of the disease the neonatal state steadily deteriorated mainly because of sepsis, cerebral hemorrhage and metabolic acidosis despite adequate therapy. The organic acids assessment in the blood serum of a newborn child showed a very strong signal of lactic acid and an increase in parahydroksyfenylolactic acid. Postmortal examination confirmed prematurity, respiratory distress syndrome, sepsis and cerebral hemorrhage. These symptoms probably resulted from the presence of a placental tumor of considerable size of 12 cm and congenital lactic acidosis, which to our knowledge, have not been described in the available literature until now. In conclusion it should be underlined, that there exists difficult to explain relationship between the presence of a placental haemangioma and severe metabolic changes resulting in high mortality and morbidity of the newborn.
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Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
Pediatr Investig
December 2024
Department of Cardiac Surgery Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center), College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University Fuzhou China.
Importance: Gastrointestinal complications are common perioperative complications in children with congenital heart disease (CHD), and as near-infrared reflectance spectroscopy (NIRS) provides a non-invasive, real-time monitoring of regional tissue oxygenation, we envisioned monitoring and preventing the development of gastrointestinal complications through the use of NIRS.
Objective: To assess the utility of NIRS for predicting gastrointestinal complication risks and determining optimal initial feeding times in infants post-cardiac surgery.
Methods: This retrospective study included 65 infants with CHD treated at our hospital from January 2021 to January 2022.
Infect Drug Resist
December 2024
Pulmonary Diseases Department, The Third People's Hospital of Shenzhen, The Second Affiliated Hospital of Southern University of Science and Technology, Shenzhen, People's Republic of China.
Background: Tuberculosis (TB) among women and infants during the perinatal period is not rare, particularly in countries with a high TB burden. And the risk would increase significantly following in vitro fertilization-embryo transfer (IVFET). Worse still, TB in this stage is apt to develop into severe forms in women and neonates, such as disseminated TB or tuberculous meningitis (TBM).
View Article and Find Full Text PDFJ Cardiothorac Vasc Anesth
November 2024
Division of Cardiac Anesthesia, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital; Department of Anaesthesia, Harvard Medical School, Boston, MA.
Objectives: Perioperative management strategies and outcomes for low-risk congenital heart disease (CHD) surgery vary between institutions. To date, no consensus exists on standardized management for pediatric patients undergoing cardiac surgery. This study seeks to benchmark the perioperative management of 4 common CHD lesions and explore clinical factors affecting postoperative outcomes.
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