A novel variant in MITF in a child from Yunnan-Guizhou Plateau with autosomal dominant inheritance of nonsyndromic hearing loss: A case report.

Deafness and hearing loss may have functional, economic, social and emotional impacts on humans, including the ability of an individual to communicate with others, feelings of isolation and frustration, and health sector costs. The World Health Organization reported that there are 32 million children worldwide with hearing loss. In order to investigate genetic mutations in children of 26 nationalities with hearing loss in Yunnan, Sanger sequencing was employed to screen for mutations in four of the most common pathological genes, including gap junction protein ß2 and 3, solute carrier family 26 member 4 and mitochondrial DNA. Whole exome sequencing was used to detect the mutation in the proband of a family in which these four genes were normal. Subsequently, the mutation was identified by Sanger sequencing. The present study reports a novel mutation, c.718C>G; p. (Arg240Gly) in the melanogenesis associated transcription factor gene, in Han people with hearing loss. The results of the present study may provide parents and children an accurate diagnosis, which may allow physicians to how to rehabilitate children's hearing.

Uterine artery embolization with and without local methotrexate infusion for the treatment of cesarean scar pregnancy.

OBJECTIVE: To compare the clinical value of uterine artery embolization (UAE) with local methotrexate (MTX) infusion to embolization without MTX in the treatment of cesarean scar pregnancies (CSPs). MATERIALS AND METHODS: From January 2009 to December 2013, 50 patients with CSP treated with UAE receiving or not receiving local MTX infusion prior to curettage were analyzed retrospectively. Twenty-two patients were offered UAE with local MTX infusion prior to curettage (UAE + MTX group), whereas 28 patients received UAE alone prior to curettage (UAE group). Clinical data and the outcomes were analyzed, followed by a brief review of the published literature summarizing what is known about UAE with and without MTX for the treatment of CSP. RESULTS: UAE was successful in 42 of 50 cases (84%), with complications occurring in only five patients. There were no significant differences in the success rate, complication rate, recovery time, or hospitalization costs between the UAE + MTX group and the UAE group. However, blood loss in the UAE + MTX group was significantly higher than in the UAE group. CONCLUSION: UAE with or without local MTX infusion might be an effective treatment for CSP. Compared with UAE alone, UAE with local MTX infusion did not dramatically improve the therapeutic effect of UAE. A larger and more comprehensive random control study is warranted to better evaluate the therapeutic effects of UAE in the treatment of CSP.

Management of Cesarean Scar Pregnancy: A Case Series.

OBJECTIVE: To survey effective treatment strategies for cesarean scar pregnancy (CSP). METHODS: The clinical data of 78 patients diagnosed with CSP from January 2010 to December 2013 were reviewed. RESULTS: Among these patients, 17 patients were first treated at our hospital; of them, 2 were misdiagnosed. The other 61 patients were referred from other hospitals; of them, 21 were initially misdiagnosed. There were 9 patients who were treated with laparotomy, 50 patients with curettage after uterine artery embolization (UAE) with or without local methotrexate (MTX) infusion, 10 patients with dilatation and curettage, 6 patients with transvaginal sonographic guided local intragestational MTX injection, and 3 patients with systemic MTX injection. All patients finally recovered. Patients with excessive vaginal hemorrhage underwent either emergency UAE treatment or laparotomy. These two treatments had similar success rates (81.82% vs. 100%, χ2 =0.289, P>0.05). CONCLUSIONS: The accurate diagnosis of CSP is important. Curettage after UAE with or without local MTX infusion is a safe and effective method.

Treatment with Cordyceps sinensis enriches Treg population in peripheral lymph nodes and delays type I diabetes development in NOD mice.

Cordyceps sinensis is a widely used Chinese traditional herb with a long history. In China C. sinensis is usually applied in the treatment of respiratory diseases, however, the efficacy of C. sinensis still lacks experimental evidence. Type I diabetes is a multi-factor related autoimmune disease caused by cellular-mediated destruction of insulin-producing pancreatic beta cells in the islets in human. We tested C. sinensis for its ability to work as an immune modulator in NOD mice, an animal model which mimicks the progression of type I diabetes in humans and found that treatment with C. sinensis extract could slow down disease development in NOD mice. Further research also suggested that treatment with C. sinensis extract increased the frequency of Treg cells and IFN-gama producing Th1 cells in peripheral lymph nodes. However, C. sinensis has no effect on the natural Treg cell differentiation in thymus.

[Characteristics of tympanic cavity pressure and static compliance in 0-6 years old children].

OBJECTIVE: To explore the characteristics of tympanic cavity pressure and static compliance in different years old children. METHOD: 302 cases (567 ears) were studied. All cases were divided into five groups according to their age. Their tympanic cavity pressure and static compliance were tested. RESULT: Most tympanic cavity pressure ranged from +50 to -50 dapa in all groups. The volume of static compliance in group one is the largest (0. 71 ml), and it changed with the age. It gradually decreased from 3 month to 3 years old but increased after three years old until 6 years old then returned to the level in 1 year old. CONCLUSION: The tympanic cavity pressure and static compliance are relevant to the age when children are small than 6 years. This characteristic must be considered on clinic diagnosis of middle ear disease and the evaluation of hearing.