The life expectancy and quality of life of women with genetic disorders continues to improve, resulting in more women reaching reproductive age and desiring fertility. It is becoming increasingly important that obstetricians become familiar with common genetic disorders and their associated risks in pregnancy. The authors review pregnancy in women with various genetic disorders, including review of pregnancy outcomes, management recommendations, and genetic risk assessment. Most data on pregnancies in women with genetic conditions are based on case reports and literature reviews. Additional studies, including pregnancy registries, are needed to improve our understanding and care of this patient population.
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http://dx.doi.org/10.1016/j.ogc.2018.01.010 | DOI Listing |
Ann Med
December 2025
Department of Neurology, Peking University First Hospital, China.
Objective: Whereas a few studies have evaluated vestibular involvement in Fabry disease (FD), the relationship between vestibular/oculomotor abnormalities and disease-specific biomarkers remain unclear. Therefore, we seek to evaluate these quantitatively and analyze their relationship with disease phenotype and biomarkers in FD.
Methods: This cohort study enrolled 37 Chinese FD patients registered in our center.
J Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFJ Neuroeng Rehabil
January 2025
Department of BioMechanical Engineering, Delft University of Technology, Mekelweg 2, Delft, 2628 CD, South-Holland, The Netherlands.
Duchenne Muscular Dystrophy (DMD) progressively leads to loss of limb function due to muscle weakness. The incurable nature of the disease shifts the focus to improving quality of life, including assistive supports to improve arm function. Over time, the passive joint impedance (Jimp) of people with DMD increases.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Ophthalmology, West China Hospital of Sichuan University, No.37, Guoxue Xiang, Chengdu, 610041, Sichuan, China.
The purpose of this study is to evaluate the effectiveness of intensity-modulated radiation therapy (IMRT) combined with periorbital triamcinolone acetonide injection in treating thyroid eye disease (TED) patients with active extraocular muscle but low CAS. The retrospective observational study was conducted. A total of 156 eligible patients were selected from the TED patient database of the Ophthalmology Department of West China Hospital of Sichuan University.
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