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Norwood Procedure for Hypoplastic Left Heart With Anomalous Coronary Artery From Pulmonary Trunk.
Ann Thorac Surg Short Rep
September 2024
Department of Pediatric Cardiac Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.
Undetected coronary anomalies at Norwood procedure are associated with poor prognosis due to inadequate myocardial protection. We report a case of anomalous origin of the right coronary artery from the main pulmonary artery trunk with hypoplastic left heart syndrome and aortic atresia. Although, during bilateral pulmonary artery banding as initial palliation, the proximity between the right coronary artery origin and the aortic root made a visual diagnosis difficult, it was diagnosed using computed tomography before the Norwood procedure.
View Article and Find Full Text PDFA novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Orphanet J Rare Dis
December 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Meier-Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. Additionally, whether growth hormone (GH) treatment can increase the height of children with MGORS is unclear.
View Article and Find Full Text PDFA family with an atypical presentation of TBX3-related disorder.
Eur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFNeo-aorta reconstruction with retained stented patch in Norwood procedure after hybrid palliation of high-risk hypoplastic left heart syndrome: a case report.
Cardiol Young
January 2025
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Hybrid procedure of hypoplastic left heart syndrome, comprising ductus arteriosus stenting and bilateral pulmonary artery banding, is a good surgical option for initial palliative procedure for high-risk patients for Norwood procedure. However, ductal stenting may cause retrograde aortic blood flow obstruction. Furthermore, complete removal of stent while performing the Norwood procedure make the operation more difficult.
View Article and Find Full Text PDFA 66-year-old woman was diagnosed with chronic lymphocytic leukemia (CLL) due to the finding of leukocytosis and started acalabrutinib and obinutuzumab (AO) therapy. After three cycles of AO therapy, she developed severe pancytopenia with hypoplastic bone marrow and was diagnosed with fulminant aplastic anemia (AA) due to neutropenia with no response to granulocyte colony-stimulating factor. One month after the onset of AA, she received HLA-haploidentical allogeneic hematopoietic stem cell transplantation (haplo-SCT) from a daughter using FluMelTBI (fludarabine 180 mg/m, melphalan 80 mg/m, total body irradiation 4 Gy) as the conditioning regimen and tacrolimus, mycophenolate mofetil, and post-transplant cyclophosphamide (PTCy) for graft-versus-host disease (GVHD) prophylaxis.
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