A case of ischemic stroke in a young adult caused by combined defects of protein C and protein S and noncompaction of the ventricular myocardium / 中华神经科杂志

Ischemic stroke in young adults has attracted more and more attention due to the diversity of its etiology. Although atherosclerosis is the most common cause of stroke in young adults, other or unknown causes are not uncommon . To improve clinicians′ understanding of the etiological diagnosis of stroke in young adults, this article reports a case of ischemic stroke in the First Affiliated Hospital of Jinan University. The patient was a 22-year-old male with acute onset who was diagnosed with acute ischemic stroke based on clinical presentation, physical examination, and magnetic resonance imaging of the brain. After actively searching for the cause, laboratory and genetic tests revealed that the patient had inherited thrombophilia (protein C and protein S deficiency), and cardiac magnetic resonance imaging examination found that the patient had noncompaction of the ventricular myocardium.

Vitamin D supplementation improves testicular function in aging rats induced by D-galactose / 中华内分泌代谢杂志

Objective:To investigate the effects and potential mechanism of vitamin D supplementation on testicular function in aging rats induced by D-galactose.Methods:The aging rats were induced by D-galactose with subcutaneous injection. The animals were randomly divided into 6 groups: aging rats (DG), aging rats with low-dose vitamin D supplementation (LD), aging rats with high-dose vitamin D supplementation (HD), normal control rats(NC), normal rats with low-dose vitamin D supplementation(LN), normal rats with high-dose vitamin D supplementation (HN). The body weight, testicular weight, serum testosterone concentrations and sperm quality of the rats in each group were measured. The testis morphological changes were detected using light microscopy. The activity of superoxide dismutase (SOD) and level of malondialdehyde(MDA) were determined with spectrophotometer. The expression levels of Nrf2, GCLC, SOD2 and VDR in testis were detected by western blot.Results:At baseline, compared with NC group, testicular weight, serum testosterone level, SOD activity, Nrf2, GCLC and SOD2 expression levels were significantly decreased in DG group, while MDA level was significantly increased. After vitamin D supplementation, testicular weight, testosterone levels and SOD activity in both of HD and LD groups were significantly increased, while the MDA level was significantly decreased. The expression levels of Nrf2, GCLC, SOD2 and VDR were significantly increased.Conclusion:Vitamin D supplementation may enhance the testicular antioxidant capacity through activating Nrf2-ARE signaling pathway, and improve the testicular function in D-galactose-induced aging rats.

Maturity-onset diabetes of the young type 3 caused by genetic mutation of hepatocyte nuclear factor-1α: One family report / 中华内分泌代谢杂志

The study was initiated from a child with diabetes. After we collected his clinical data and traced back his family history of diabetes, a clinical diagnosis of maturity-onset diabetes of the young(MODY)was made. To amplify and sequence the target gene, the genomic DNA was extracted from the anticoagulant blood samples of the patient and his first-degree relatives, revealing a missense mutation(c.779C>T)in exon 4 of hepatocyte nuclear factor-1α in the proband and his father. The above sequencing result confirms the diagnosis of MODY3. During one year follow-up, the proband achieved the strict control of blood glucose with the use of repaglinide and his father got a notable improvement of blood glucose after his drug was shifted to the long-acting sulfonylurea.