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Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFPerioperative Observations and Outcome in Surgical Treatment of Malignant Peripheral Nerve Sheath Tumors.
Cancers (Basel)
November 2024
Department of Neurosurgery, University Hospital Tübingen, BW 72076 Tübingen, Germany.
Background/objectives: This retrospective observational study aimed to investigate the perioperative outcome in Malignant Peripheral Nerve Sheath Tumors (MPNSTs) with and without relation to Neurofibromatosis Type 1 (NF1) and to detect possible influencing factors.
Methods: Clinical reports, histopathological evaluations, imaging, and treatment characteristics were reviewed in 35 operated MPNSTs in 33 patients. Possible predictive valuables included disease type, preoperative tumor volume, SUV and MIB-1 proliferation index, resection margins, the presence of metastasis, and whether radio-/chemotherapy was received.
Correction: Cardiac overload resolved by resection of a large plexiform neurofibroma on both the buttocks and upper posterior thighs in a patient with neurofibromatosis type I: a case report.
BMC Surg
October 2024
Department of Medical Science and Cardiorenal Medicine, Yokohama City University, School of Medicine, Yokohama, Japan.
Efficient analysis of adverse drug events and toxicological mechanisms of newly marketed drugs by integrating pharmacovigilance and network toxicology: selumetinib as an example.
Front Pharmacol
August 2024
Department of Pharmacy, Jiangbei Campus of The First Affiliated Hospital of Army Medical University (The 958th Hospital of Chinese People's Liberation Army), Chongqing, China.
Article Synopsis
- The study aims to combine pharmacovigilance and network toxicology to investigate adverse drug events (ADEs) and toxic mechanisms associated with the drug selumetinib, helping to enhance understanding of newly marketed drugs' safety.
- Researchers analyzed 1388 ADE reports from the FDA's database, identifying 53 significant signals, some of which were not listed in the drug's official documentation, such as ingrowing nail and cardiac valve disease.
- The analysis of selected adverse signals indicated key targets involved in their toxicological mechanisms, with identified targets including EGFR and STAT3, emphasizing the potential for uncovering previously unrecognized side effects of selumetinib.
Human Genetics of Ventricular Septal Defect.
Adv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Article Synopsis
- Ventricular septal defects (VSDs) are common congenital heart diseases, making up about 40% of cardiac malformations and can occur alone or with other defects.
- The genetic causes of VSD are complex, involving chromosomal abnormalities and gene mutations, including known syndromes like DiGeorge and Holt-Oram.
- Recent advancements like comparative genomic hybridization have revealed numerous copy number variations linked to VSD, highlighting the genetic diversity in affected patients.
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