A prospective cohort study was conducted to determine whether chromosome aneuploidy increases the risk of early spontaneous abortions in patients with polycystic ovary syndrome (PCOS). A total of 1461 patients who conceived after IVF and embryo transfer were followed; 100 patients who had experienced clinical spontaneous abortion were recruited, 32 with PCOS and 68 without PCOS. Before 2013, genetic analysis comprised conventional cultured villus chromosome karyotyping and a multiplex ligation-dependent probe amplification subtelomere assay combined with fluorescence in-situ hybridization; since 2013, array-based comparative genomic hybridization technique combined with chromosome karyotyping has been used. Age, BMI, pregnancy history, gestational age and total gonadotrophin dosage did not differ significantly between the PCOS and non-PCOS groups. In the PCOS group, 28.1% of abortuses demonstrated aneuploidy, which was significantly lower (P = 0.001) than in the non-PCOS group (72.1%). Further statistical analyses controlling for maternal age demonstrated that abortuses of women with PCOS were significantly less (P = 0.001) likely to have chromosome aneuploidy. Embryonic aneuploidy does not play a vital role in early spontaneous abortion in women with PCOS. Maternal factors resulting in endometrial disorders are more likely to be responsible for the increased risk of early spontaneous abortion in patients with PCOS.
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http://dx.doi.org/10.1016/j.rbmo.2016.04.006 | DOI Listing |
Early Hum Dev
January 2025
Department of Women and Children's Health, St Thomas' Hospital, King's College London, London, UK; Department of Perinatal Imaging, St Thomas' Hospital, King's College London, London, UK.
Objectives: The aim of this study was to utilise T2* relaxometry (an indirect method of quantifying tissue oxygenation) to assess the fetal thymus in uncomplicated pregnancies throughout gestation and in a cohort of fetuses that subsequently deliver very preterm.
Methods: A control group of participants with low-risk pregnancies were recruited and retrospectively excluded if they developed any pregnancy related complications after scanning. Participants were recruited who were deemed to be at very high risk of delivery prior to 32 weeks' gestation and retrospectively excluded if they did not deliver prior to this gestation.
Epilepsia
January 2025
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
Objectives: Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult-to-treat and early-onset seizures, developmental delay/intellectual disability, impaired quality of life, and increased risk of early mortality. High doses of sodium channel blockers are typically used to treat SCN8A-DEE caused by gain-of-function (GoF) variants. However, seizures are often drug resistant, and only a few patients achieve seizure freedom.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine - Gastroenterology, Faculty of Medical Sciences, Lebanese University, Beirut, LBN.
Aseptic splenic abscesses are rare in the early phases of Crohn's disease and are typically reported in patients with longstanding illness or uncontrolled symptoms despite medical treatment. We present a case of recurrent aseptic splenic abscesses in a young man newly diagnosed with Crohn's disease, whose illness remained well-controlled. This unique case raises questions regarding the spontaneous resolution of aseptic splenic abscesses without steroid therapy and their recurrence without acute Crohn's disease flare-ups.
View Article and Find Full Text PDFCommun Med (Lond)
January 2025
Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, Leibniz ScienceCampus Primate Cognition and German Center for Child and Adolescent Health (DZKJ), Göttingen, Germany.
Background: To assess the integrity of the developing nervous system, the Prechtl general movement assessment (GMA) is recognized for its clinical value in diagnosing neurological impairments in early infancy. GMA has been increasingly augmented through machine learning approaches intending to scale-up its application, circumvent costs in the training of human assessors and further standardize classification of spontaneous motor patterns. Available deep learning tools, all of which are based on single sensor modalities, are however still considerably inferior to that of well-trained human assessors.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Department of Paediatric Surgery, KK Women's and Children's Hospital, Singapore.
We report a case of small bowel perforation from ileo-ileal intussusception with necrotising enterocolitis (NEC) after indomethacin exposure mimicking spontaneous intestinal perforation in an extremely preterm neonate. Indomethacin exposure can cause mesenteric hypoperfusion, resulting in an ischaemic lead point for intussusception and NEC. We advocate that intussusception should be considered as one of the differentials for neonates with recurrent feeding intolerance postindomethacin exposure.
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