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A novel prognostic risk model for patients with refractory/relapsed acute myeloid leukemia receiving venetoclax plus hypomethylating agents.
Leukemia
January 2025
Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany.
Off-label hypomethylating agents and venetoclax (HMA/VEN) are often used for relapsed and refractory (R/R) AML patients. However, predictors of outcome are elusive. The objective of the current retrospective observational multicenter study of 240 adult patients (median age 68.
View Article and Find Full Text PDF[Analysis of FBN1 gene mutations in six Chinese pedigrees affected with Marfan syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou, Zhejiang 318050, China.
Objective: To determine the types of genetic variants in six Chinese pedigrees affected with Marfan syndrome (MFS) and analyze their clinical characteristics and molecular pathogenesis.
Methods: Six MFS pedigrees presented at the Taizhou Enze Medical Center (Group) between 2017 and 2022 were selected as the study subjects. Clinical data of pedigrees were retrospectively analyzed.
[Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Medical Genetics and Prenatal Diagnosis, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu 221009, China.
Objective: To explore the results of four types of Urea cycle disorders (UCDs) in newborns from the Xuzhou region, assess the efficacy of newborn screening by tandem mass spectrometry (MS/MS), and analyze their genetic characteristics.
Methods: A retrospective analysis was performed using tandem mass spectrometry to screen for inherited metabolic disorders in 691 712 newborns at the Maternal and Child Health Care Hospital of Xuzhou from November 2015 to December 2023. Ten children (cases 1-10) were diagnosed with Ornithine transcarbamylase deficiency (OTCD), Carbamoylphosphate synthase 1 deficiency (CPS1D), Arginase deficiency (ARGD), and Argininosuccinate synthase deficiency (ASSD) based on MS/MS and genetic testing.
Genetic and clinical analysis of in amyotrophic lateral sclerosis.
J Med Genet
January 2025
Department of Neurology, Sichuan University, Chengdu, Sichuan, China
Background: Considerable heterogeneity in genotypes and phenotypes has been observed among patients with amyotrophic lateral sclerosis (ALS) harbouring optineurin gene () mutations, as reported in prior studies. The study aimed to elucidate the correlation between genotypes and phenotypes.
Methods: gene variants were screened within a substantial Chinese cohort of patients with ALS, encompassing LoF and rare missense variants.
Introduction: The prognostic differences between neuroendocrine carcinoma (NEC) and mixed neuroendocrine-non-neuroendocrine neoplasm (MiNEN) remain unclear.
Methods: This study aims to compare the prognostic outcomes of NEC and MiNEN by analyzing the clinicopathological features of these diseases and exploring factors affecting progression after radical surgery. Additionally, we employed whole-exome sequencing to investigate the molecular mechanisms influencing the prognosis of both conditions.
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