One case of misdiagnosis of 22q11.2 deletion syndrome with ovarian mixed germ cell tumor / 中华内分泌代谢杂志

Idiopathic hypoparathyroidism is a rare endocrine disease. It is often manifested as neuropsychiatric symptoms, especially epileptic seizures. Thus, it is easy to be misdiagnosed as primary epilepsy. The following case report details the diagnosis of a 17-year-old girl who had been misdiagnosed as primary epilepsy for a long time. She was found hypoparathyroidism during the hospitalization for the operation of ovarian mixed germ cell tumor. After whole exome sequencing, she was ultimately diagnosed as 22q11.2 deletion syndrome. This case suggested that clinicians should be aware of the possibility of hypoparathyroidism in adolescent epilepsy, especially hereditary hypoparathyroidism. At the same time, the possible high risk of tumors should also be considered in hereditary hypoparathyroidism.

Study on the effect of Pin1 novel depressor all-transretinoic acid in collagen-induced arthritis mice / 中华风湿病学杂志

Objective To investigate the effect of Pin1 novel depressor all-transretinoic acid (ATRA) in collagen-induced arthritis (CIA) mice and elucidate the underlying mechanisms.Methods CIA model mice were established,then the qualified ones were treated with ATRA and other medicines respectively.Paw thickness and volume were measured once a week in each group.The production of tumor necrosis factor-α(TNF-α) and interleukin-6 (IL-6) was detected by enzyme-linked immunosorbent assay (ELISA) in serum.Pathological changes of joints tissues were observed by hematoxylin and eosin (HE) staining.Western blot was used to detect the expression of Pin1 and nuclear factor-κB (NF-κB) between different groups.The measurement date were compared with single factor analysis of variance and independent sample t test.Results Compared with healthy control group,the paw thickness,volume and arthritis scores were significantly increased in CIA mice,compared with disease control group,joints swelling and arthritic score index were reduced in both treatment groups;TNF-α and IL-6 expression were significantly increased in CIA mice [(50.1±1.3) pg/ml,(67.6±8.3)) pg/ml] when compare with health control group [(47.1±0.6) pg/ml,(43.0± 5.2) pg/ml] (t=-9.0,P＜0.01;t=-6.9,P＜0.01),and both were decreased in treatment groups compare with disease control group (TNF-α,F=35.5,P＜0.05;IL-6,F=17.15,P＜0.01);HE staining study demonstrated that ATRA and Dexamethasone could significantly suppressthe pathological changes of joints tissues;Western blot assay demonstrated that the higher arthritis scores was,the more synovial pin1 expressed in mice,moreover ATRA and Dexamethasone decreased Pin1 and NF-κB expression in CIA mice synovial.Conclusion ATRA can successfully decrease inflammation scores and joints pathology damage in CIA mice via weaken the synovial Pin1 expression.