Tumor necrosis factor alpha (TNF-α) and interleukin (IL)-6, are prominent mediators of inflammation and have been confirmed to be elevated in at least a subgroup of women with polycystic ovary syndrome (PCOS). In this study, the effects of Silymarin (SLM) on the expression TNF-α, IL-6, CRP and symptoms of PCOS were studied. In this research, PCOS was induced by injection of Estradiol Valerate. PCOS rats were divided into control and experimental groups received intraperitoneal injection SLM extract daily. After syndrome induction, ovaries were collected for histological and immunohistochemical evaluations. Serum IL-6 was detected by the ELISA kit. The results indicated the significant reduction in inflammatory markers and significant changes follicular layers thickness in the treatment group as compared with control. It can be concluded that having anti-inflammatory substances, Silymarin is effective in symptoms of this syndrome and metabolic syndrome.
Jalili syndrome (JS) is a rare autosomal recessive with two cardinal symptoms including cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). This disease caused by different mutations on the metal transporter gene CNNM4 located on 2q11. This report described an Iranian family with clinical features of JS and phenotypic variability in terms of ocular and dental findings. The parents were healthy and consanguineous, but three out of their four offspring shared an oculo-dental phenotype. Dental and ocular examination shows CRD and AI. Enamel destruction and Ocular symptoms began in their childhood. Whole exome sequencing (WES) in the proband identified a novel homozygous mutation (c.G1423A:p.V475M) in the CNNM4 gene. These findings suggested that the p.V475M mutation in homozygous state induces a complete phenotype with both CRD and AI.
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