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Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.
Orphanet J Rare Dis
January 2025
The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Objective: Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.
Methods: This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024.
Evaluation of the relationship between worry and anxiety with the general health status of pregnant women at risk of diagnosing abnormalities.
Reprod Health
January 2025
School of Medicine, North Khorasan University of Medical Sciences, Bojnurd, Iran.
Background: Today, the screening of fetal abnormalities during pregnancy is used as one of the components of the prenatal care worldwide, and many abnormalities are detected by ultrasound during pregnancy. On the other hand, the possibility of an abnormality in the fetus causes worry and anxiety in pregnant women. Therefore, the present study was conducted with the aim of determining the relationship between worry and anxiety with the general health status of pregnant women at risk of diagnosing fetal abnormalities.
View Article and Find Full Text PDFCongenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
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