Objective To systematically review the clinical presentations and gene types of oculo-facio-cardio-dental (OFCD) syndrome and to provide a theoretical basis for future diagnosis, prevention, and treatment of the disease. Methods The PubMed, EMbase, The Cochrane Library, Web of Science, CBM, WanFang Data, and CNKI databases were electronically searched to collect studies on OFCD syndrome published from inception to March 1st, 2022. Two reviewers independently screened the literature, extracted data, and assessed the risk of bias of the included studies. A systematic review was then performed. Results A total of 19 studies involving 83 patients with OFCD syndrome were included. The patients had an average age of 15.95±16.03 years, including 5 males and 78 females. The clinical presentations mainly included ocular disorders, facial abnormalities, cardiac disorders, dental abnormalities, physical anomalies, and dysfunctions of other body systems. BCOR gene mutations were detected in 71 patients with OFCD syndrome (overall detection rate: 86%, 95%CI 78% to 93%), of whom five were males (detection rate: 6%, 95%CI 1% to 11%) and 66 were females (detection rate: 80%, 95%CI 71% to 88%). Patients were mostly treated using multidisciplinary symptomatic treatment approaches based on clinical presentations and imaging findings. Conclusion In addition to the typical clinical presentations, BCOR gene testing results should also be taken into consideration for the differential diagnosis of OFCD syndrome. Although symptomatic therapies in clinical practice are relatively mature, they do not address the underlying cause of the disease, i.e., BCOR gene mutations. In future research, greater attention should be diverted to gene therapy.
目的:检测血清雌二醇(E2)的水平,在一定程度上了解女性生育能力及身体健康状况。探讨各种致病因子对人体的损害。方法:放射免疫全定量分析,统计学上采用百分比统计。结果:笔者对近三年1164例有生殖系统临床症状(主要表现为月经不调、量少或停经等),年龄在18岁至40岁间的育龄女性患者的雌二醇－E2检测结果进行了回顾性总结分析,发现其激素水平呈逐年下降趋势,年龄也趋向相对低龄趋势。结论:上述结果可能在一定程度上反映了生活环境、工作环境、生活习惯、食物、药物及其他疾病等因数都会对人体内分泌及生殖系统的生理健康造成一定程度的影响甚至产生严重疾患。
Objective To investigate influence of iodine-131 (131I) treatment following total thyroidectomy on menstrual rhythm and fertility of childbearing age patients with papillary thyroid carcinoma (PTC). Methods The clinical data of 342 childbearing age patients with PTC treated with total thyroidectomy from January 2007 to December 2016 in the First Affiliated Hospital of Xinjiang Medical University were retrospectively analyzed. The patients were designed to 131I treatment group (126 cases) and non-131I treatment group (216 cases) according to the postoperative treatment. The menstrual rhythm and pregnancy after operation were regularly followed-up on postoperative 1 month. The age, nationality, occupation, menstrual rhythm, and pregnancy were analyzed by two independent samples t or Chi-square or Fisher test. Results ① There were no significant differences in the age, nationality, and occupation between the 131I treatment group and the non-131I treatment group (P>0.05). ② Compared with the non-131I treatment group, the proportions of the irregular menstruation were significantly increased on the 1st month and 3rd month of follow-up (P<0.05) in the131I treatment group, which had no statistically significant differences on the 6th month and 12th month of follow-up in two groups (P>0.05). Further the analysis results of the age stratification showed that had no significant differences at different follow-up time in these two groups (P>0.05). ③ The success rate of pregnancy also had no significant differences in these two groups both in the general and the age stratification analysis results (P>0.05). Conclusions 131I treatment following total thyroidectomy can affect menstrual rhythm of women in childbearing age at the early stage (within 6 months), but there is no abnormal menstruation on 6 months later, which dosen’t effect on pregnancy in women of childbearing age, and it is recommended that pregnancy should be renewed in 1-year after 131I treatment.
Objective To evaluate the sensitivity， specificity, and accuracy of magnetic resonance imaging （MRI） in characterizing adnexal masses. Methods The databases such as the Cochrane Library, PubMed， EMbase， CNKI， and WanFang Data were searched on computer from 1991 to 2011. The reviewers screened the trials according to inclusion and exclusion criteria strictly, extracted the data， and assessed the methodology quality. Meta-analysis were performed using the Metadisc 1.40 software. The acquired pooled sensitivity, specificity， and summary receiver operating characteristic curve （SROC） were used to describe the diagnostic value. The pooled likelihood ratios were calculated based on the pooled sensitivity and specificity. Results Ten case-control studies involving 649 women who were suspected to have pelvic masses were included and 729 masses were confirmed by the postoperative histopathology. The pooled statistical results of meta-analysis showed that：the sensitivity and specificity of MRI were 〔89%（84%-92%）， P=0.046 6〕 and 〔87% （83%-90%）， P=0.000 2〕 respectively, the positive and negative likelihood ratios of MRI were 6.25（P=0.008 5） and 0.14（P=0.029 1） respectively, and the area under the SROC curve （AUC） was 0.941. The sensitivity and specificity of ultrasound were 〔87%（82%-91%）， P=0.000 0〕 and 〔73%（69%-77%）, P=0.000 0〕 respectively, the positive and negative likelihood ratios of MRI were 3.07（P=0.000 0） and 0.18（P=0.000 1） respectively， and the AUC was 0.897. The speci?city and accuracy of MRI in characterizing female pelvic masses were higher than ultrasound obviously. Conclusion According these evidences， the MRI should be recommended to the women who are suspected to have pelvic masses as a preferred.
Objective To investigate the clinicopathological features, postoperative survival and prognostic influencing factors of male patients with hepatocellular carcinoma （HCC）. Methods The clinicopathological features and the follow-up data of 155 male HCC patients who received hepatectomy from Jan. 1995 to Dec. 2002 were retrospectively analyzed and the prognostic influencing factors were defined by uni- and multi-variate analysis. Results Compared with 24 female patients at the same period, males were about six-year older and both of their hepatitis B surface antigen (HBsAg) and liver cirrhosis positive rates were higher (P＜0.05)， but there were no significant differences of the other clinicopathological parameters between the male group and the female group. Multivariate analysis showed that Edmondson-Steiner grade and portal vein tumor thrombosis (PVTT) were two independent prognostic influencing factors of both the overall survival and the tumor-free postoperative survival of male patients with HCC, while satellite nodule and tumor size only influenced the overall survival. Conclusion The main clinicopathological features and the postoperative survival of male HCC patients were similar than those of female’s. Tumor differentiation and biological behaviors were major factors affecting postoperative survival of male patients with HCC.
ObjectiveTo find out the most appropriate way to fix scalp electrodes for long-range video electroencephalogram on female patients. MethodsA total of 50 female patients with epilepsy who underment video electroencephalogram between May 2011 and May 2013 were divided into tonsure group, collodion group, and improvement group, with 40 patients in each group. Differences among three methods of fixation were observed and a questionnaire survey on satisfaction of patients and medical staff was conducted. ResultsWe found that the modified-method cost less time, caused less pain during electrode removal, required fewer procedures for nurses and was more acceptable by patients. ConclusionWe recommend the modified-method for female patients unless they are limited by some special conditions.
ObjectiveTo investigate the clinical significance of Q-angle measuring under different conditions in female recurrent patellar dislocation female patients. MethodsBetween August 2012 and March 2013, 10 female patients (11 knees) with recurrent patellar dislocation were collected as trial group; 20 female patients (20 knees) with simple meniscus injury were collected as control group at the same time. Q-angle was measured in extension, 30° flexion, 30° flexion with manual correction, and surgical correction in the trial group, and only in extension and 30° flexion in the control group. Then the difference value of Q-angle between extension and 30° flexion (Q-angle in extension subtracts Q-angle in 30 flexion) were calculated. Independent sample t-test was used to analyze Q-angle degrees in extension, 30° flexion, and the changed degrees of 2 groups. The Q-angle between manual correction and surgical correction of the trial group was analyzed by paired t-test. ResultsThe Q-angle in extension, Q-angle in 30° flexion, and difference value of Q-angle between extension and 30° flexion were (17.2±3.6), (14.3±3.0), and (2.9±1.9)° in the trial group and were (15.2±3.4), (14.4±3.5), and (0.8±1.7)° in the control group. No significant difference was found in Q-angle of extension or Q-angle of 30° flexion between 2 groups (P>0.05), but the difference value of Q-angle between extension and 30° flexion in the trial group was significantly larger than that in the control group (t=3.253, P=0.003). The Q-angle in 30° flexion with manual correction and surgical correction in the trial group was (19.8±3.4)° and (18.9±3.8)° respectively, showing no significant difference (t=2.193, P=0.053). ConclusionWhen a female patient's Q-angle in 30° flexion knee changes obviously compared with Q-angle in extension position, recurrent patellar dislocation should be considered. For female patients with recurrent patellar dislocation, the preoperative Q-angle in 30° flexion with manual correction should be measured, which can help increasing the accuracy of evaluation whether rearrangement should be performed.
Objective To compare the economic effectiveness of universal screening, high-risk population screening, and no screening strategies for thyroid disease prevention and control among pregnant women in China through cost-effectiveness analysis, providing evidence-based support for optimizing health policy decisions on prenatal thyroid disease screening. Methods Based on the characteristics of thyroid disorders during pregnancy, a combined decision tree and Markov model was developed to conduct a lifetime cost-effectiveness analysis across three strategies: no screening, high-risk population screening, and universal screening. Sensitivity analyses were performed on key parameters. Results Base-case analysis demonstrated that universal screening was the most cost-effective strategy when the World Health Organization (WHO)-recommended payment threshold of 1×gross domestic product (GDP) per capita was used, with an incremental cost-effectiveness ratio (ICER) of 20636.18 yuan per quality-adjusted life year (QALY) compared to no screening, followed by high-risk population screening (ICER=21071.71 yuan/QALY). The results of the sensitivity analysis showed a strong stability of the model. Conclusions Of the 3 screening programs for thyroid disease in pregnancy, universal screening is the most cost-effective when the WHO-recommended payment threshold of 1×GDP per capita is used.