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Serum FoxO1 and SIRT2 concentrations in healthy pregnant women and complicated by preeclampsia.
Ir J Med Sci
January 2025
Department of Obstetrics and Gynecology, Perinatology Clinic, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
Background: Sirtuins and FoxO1 are reported to be important in the pathophysiology of preeclampsia. This study aimed to investigate whether serum FoxO1 and SIRT2 concentrations differ between preeclampsia and normal pregnancy and also to compare these markers in early- and late-onset preeclampsia.
Methods: This cross-sectional study was conducted on 27 women with early-onset preeclampsia, 27 women with late-onset preeclampsia, and 26 healthy normotensive pregnant controls.
Background: Group B streptococcus (GBS) causes neonatal invasive disease, mainly sepsis and meningitis. Understanding the clinical characteristics, laboratory tests, and antibiotic resistance patterns of GBS invasive infections provides reliable epidemiological data for preventing and treating GBS infections.
Methods: Clinical characteristics and laboratory test results from 86 patients with neonatal invasive disease (45 cases of early-onset disease [EOD] and 41 cases of late-onset disease [LOD]) recruited from Fujian Maternity and Child Health Hospital between January 2012 and December 2021 were analyzed.
Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.
Neurol Genet
December 2024
From the School of Medicine (A.R.T., J.R.), The University of Queensland; Department of Neurology (W.R., P.A.M., R.D.H., L.V.), Royal Brisbane & Women's Hospital; The University of Queensland (P.A.M., R.D.H., L.V.), UQ Centre for Clinical Research; and Genetic Health Queensland (J.R.), Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.
Tay-Sachs disease is a neurodegenerative disorder characterized by progressive neurologic impairment due to pathogenic variants in the gene that codes for the alpha subunit of β-hexosaminidase. We report 2 cases of adult-onset progressive weakness, ataxia, and neuropsychiatric symptoms in a 30-year-old man and 37-year-old woman. Both patients had compound heterozygosity in the gene with 4 distinct variants.
View Article and Find Full Text PDF-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.
Neurol Genet
December 2024
From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.
Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).
View Article and Find Full Text PDFEpidemiological investigation of sex hormones and their metabolism-related gene single nucleotide polymorphisms in patients with benign prostatic hyperplasia complicated with late-onset hypogonadism: a retrospective cohort study.
Int J Surg
December 2024
Department of Urology, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou, People's Republic of China.
Background: Benign prostatic hyperplasia (BPH) is a common disease in middle-aged and elderly men, and its etiology is not completely clear. Late-onset hypogonadism (LOH) is a relatively common disease in the aging process of men. BPH is often accompanied by varying degrees of LOH, and the pathogenesis and progression of the two diseases are related.
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