We describe the case of the lethal full trisomy (T) 14 in a fetus from bichorionic biamniotic (BCBA) twin pregnancy. This is a case of a 28-year-old primigravida, with an unremarkable personal and family history, who just like her 30-year-old husband, was without consanguinity between spouses. She conceived spontaneously, without a burdened gynecological-obstetric history. By the 12th week of pregnancy, she had hyperemesis gravidarum and one episode of bleeding due to which progesterone supplementation was prescribed. Due to asymptomatic bacteriuria, she took cefuroxime axetil in the 13th week of pregnancy and azithromycin in the 15th week due to cervicitis with ureaplasma urealyticum.
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http://dx.doi.org/10.1055/a-2215-6984 | DOI Listing |
Alzheimers Dement
December 2024
University of Kansas Medical Center, Kansas City, KS, USA.
Background: Mitochondrial dysfunction and Aβ accumulation are hallmarks of Alzheimer's disease (AD). However, the role of these pathologies in Down Syndrome associated Alzheimer's Disease (DSAD) is unknown. Decades of research describe a relationship between mitochondrial function and Aβ production.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, California, USA.
Introduction: This study investigated the impact of trisomy 21 mosaicism (mT21) on Alzheimer's disease (AD) neuropathology in a well-characterized clinical case described by Ringman et al.
Methods: We describe AD neuropathology in mT21 including amyloid beta, phosphorylated tau, astrogliosis, microgliosis, α-synuclein, and TAR DNA-binding protein 43 (TDP-43) in cerebral cortex, hippocampal subregions, and amygdala using immunohistochemistry.
Results: We observed high AD neuropathologic change with a score of A3B3C3.
J Pediatr Gastroenterol Nutr
December 2024
Department of Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Objectives: Practice variability exists regarding the timing of gastrostomy tube (GT) placement in patients unable to maintain adequate oral nutrition. We sought to assess patient factors predictive of longer surgical GT use to inform patient selection.
Methods: We conducted a single-center, retrospective cohort study including children ≤18 years who underwent surgical GT placement from June 1, 2018 to June 1, 2021 at a children's hospital.
Mol Ther Nucleic Acids
December 2024
Department of Chromosome Biomedical Engineering, Integrated Medical Sciences, Graduate School of Medical Sciences, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Lancet Neurol
December 2024
Waisman Center, University of Wisconsin-Madison, Madison, WI, USA; School of Human Ecology, University of Wisconsin-Madison, Madison, WI, USA. Electronic address:
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