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Case Report: Prenatal diagnosis of novel compound heterozygous variants in gene causing short-rib thoracic dysplasia 7 with or without polydactyly.
Front Pediatr
January 2025
Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Background: Whole exome sequencing (WES) technology has been increasingly used for the etiological diagnosis of fetuses with ultrasound anomalies. In this article, we report a novel deletion compound combined with a causative variant in gene leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly using WES.
Methods: This study involved a Chinese fetus with clinical features of skeletal dysplasia on ultrasound imaging, in whom chromosome abnormalities and copy number variants (CNVs) were detected by chromosomal microarray analysis (CMA), and sequence variants were detected by WES.
A recurrent variant c.5126C>T in a Han-Chinese family with tuberous sclerosis complex.
Pak J Med Sci
January 2025
Lamei Yuan, MD, PhD, Health Management Center, the Third Xiangya Hospital, Disease Genome Research Center, Center for Experimental Medicine, the Third Xiangya Hospital, Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha 410013, Hunan, China.
Objective: To identify the disease-causing variant in a family with tuberous sclerosis complex (TSC).
Methods: This study including a Han-Chinese pedigree recruited from the Third Xiangya Hospital, Central South University, Changsha, Hunan, China was conducted between February, 2019 and January, 2023. Detailed clinical examinations were performed on the proband and other family members of a Han-Chinese family with TSC.
Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality.
Gynecol Endocrinol
December 2025
Department of Reproductive Medicine, the Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China.
Oocyte maturation arrest (OMA) may occur at different stages, including the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII). A total maturation arrest of human oocytes is rarely observed during fertilization (IVF). We have identified a case of infertile female for whom all oocytes fail to mature and are arrested at MI.
View Article and Find Full Text PDFCortisol Imbalance and Fear Learning in PTSD: Therapeutic Approaches to Control Abnormal Fear Responses.
Curr Neuropharmacol
January 2025
Centro studi e ricerche in Neuroscienze Cognitive, Dipartimento di Psicologia "Renzo Canestrari", Alma Mater Studiorum Università di Bologna, Cesena Campus, Cesena, Italy.
Post-Traumatic Stress Disorder (PTSD) is mainly characterized by dysregulated fear re- sponses, including hyperarousal and intrusive re-experiencing of traumatic memories. This work delves into the intricate interplay between abnormal fear responses, cortisol dysregulation, and the Hypothalamic-Pituitary-Adrenal (HPA) axis, elucidating their role in the manifestation of PTSD. Giv- en the persistent nature of PTSD symptoms and the limitations of conventional therapies, innovative interventions are urgently needed.
View Article and Find Full Text PDFPrimary intestinal lymphangiectasia (PIL) is a rare protein-losing gastroenteropathy characterized by diffuse or localized ectasia of the enteric lymphatics, which can be accompanied by lymphatic abnormalities in other parts of the body. This condition results in hypoalbuminemia, hypogammaglobulinemia, and lymphopenia due to the abnormal leakage of lymphatic fluid into the gastrointestinal tract. As there are no specific serological or radiological tests available, the gold standard for diagnosing intestinal lymphangiectasia is endoscopic examination with histopathological examination of intestinal biopsy specimens.
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