Medicine
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Mutations in the gene encoding type VI collagen cause Bethlem myopathy (MIM 158810) and Ullrich congenital muscular dystrophy (MIM 254090); 2 diseases previously recognized as completely independent, and have been increasingly recognized. However, collagen-related myopathy caused by intron variation in the COL6 gene is rarely reported in China. Ullrich congenital muscular dystrophy is an autosomal recessive disorder that leads to severe muscle weakness with early onset. Thus, children may never walk independently, with proximal joint contractures and significant hyperelastic distal joints, and have early respiratory failure. Therefore, timely diagnosis and treatment are important. We report a spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a pediatric patient. ⋯ We report a case of spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a pediatric patient, expanding the phenotypic spectrum of the disease and enriching the human gene pool.
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Glioma is one of the malignancy brain tumors, which deeply threaten the health of patients. Although the traditional therapies for glioma have improved, the outcome is still far from satisfactory. Bone Marrow Stromal Cells (BMSC)-based therapy provided novel insight in the treatment for glioma. ⋯ Our data suggested that BMSC-derived exosome inhibited the proliferation and contributed to apoptosis of human U87 cells after culturing with miR-506 mimic. Overexpression of miR-506 in BMSC-derived exosome inhibited the invasion of human glioma U87 cells, while these effects were deeply suppressed in the presence GW4869. Our present study demonstrated that BMSC inhibited the growth and metastasis of human glioma U87 cells through delivering exosomal miR-506, and provided the evidences to develop the BMSC-based therapy for glioma.
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There is still a scarcity of data on hair loss caused by coronavirus disease 2019 (COVID-19) infection. This study aims to determine the characteristics of hair loss in Thai individuals after COVID-19 infection and to identify associated factors. From March to June 2022, a retrospective review of medical records and telephone interviews was conducted to determine the details of hair loss, the severity of infection, and the associated treatments of patients with an abrupt onset of hair loss after the diagnosis of COVID-19 infection at Siriraj Hospital in Bangkok, Thailand. ⋯ Patients with a history of androgenetic alopecia tended to have a lower hair shedding scale (adjusted odd ratio 0.03, 95% CI 0.01-0.38). This study reviewed the characteristics of hair loss after COVID-19 infection during Omicron outbreaks in Thailand. The COVID-19-associated telogen effluvium, which is the primary cause in our patients, manifested with earlier onset at approximately 30 days.
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Gestational diabetes mellitus (GDM) is characterized by carbohydrate metabolism intolerance during pregnancy in individuals with normal blood glucose levels before pregnancy. The first-line treatment for GDM is nutrition and exercise, and insulin therapy is initiated when these are insufficient. Pregnant women who are started on insulin often think that they use drugs that may be harmful to the baby. ⋯ Pregnant women diagnosed with GDM can define gestational diabetes because of the training provided. Because the pregnancy period is sensitive, pregnant women delay control and insulin application for the health of their babies. Moreover, they sometimes experience pain during the injection, and believe that it may harm their babies.
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Review Meta Analysis
Lack of associations between thyroid dysfunction and obstructive sleep apnea-hypopnea syndrome: A meta-analysis.
Obstructive sleep apnea-hypopnea syndrome (OSAHS) is a comprehensive syndrome with endocrine and metabolic complications. This review aims to explore the correlation between thyroid hormone levels and the severity of OSAHS in patients. ⋯ The prevalence of thyroid dysfunction is relatively low in OSAHS individuals. Thyroid hormone levels show no significant difference between OSAHS patients and healthy subjects. Furthermore, there is no significant correlation between AHI and serum TSH, FT3, and FT4 levels. Based on existing data, the relationship between OSAHS and thyroid function remains controversial, and further in-depth research is warranted to validate the connection and elucidate the underlying mechanisms.