OBJECTIVE: To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS). METHODS: The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The child was found to harbor compound heterozygous variants of the RECQL4 gene, namely c.1048_1049delAG and c.2886-1G>A, among which c.2886-1G>A was unreported previously. According to the ACMG guidelines, the c.1048_1049delAG was predicted to be pathogenic (PVS1+PM3_Strong+PM2), while the c.2886-1G>A was predicted to be likely pathogenic (PVS1+PM2). CONCLUSION The compound heterozygous variants of the RECQL4 gene probably underlay the pathogenesis of RTS in this patient. Above finding has enriched the mutational spectrum of the RECQL4 gene.
Child ; Family ; Female ; Humans ; Mutation ; RecQ Helicases/genetics* ; Rothmund-Thomson Syndrome/genetics* ; Whole Exome Sequencing

Objective:To analyze the patients′ clinical and genetic characteristics with pseudohypoparathyroidism (PHP) and investigate the correlation between clinical phenotypes and genotypes.Methods:Twenty PHP patients were ascertained at Children′s Hospital Zhejiang University School of Medicine from January 2011 to July 2020. Clinical manifestation, laboratory examination and gene test results were retrospectively analyzed.Results:In these twenty patients, eighteen cases showed resistance to parathyroid hormone (PTH) and thirteen cases had Albright′s hereditary osteodystrophy (AHO) phenotype. Gene abnormalities were found in all the twenty PHP patients, which included seven patients with GNAS gene variations (six frameshifts and one missense) and thirteen patients with GNAS gene methylation defects. Moreover, twelve children with both PTH resistance and AHO phenotype were clinically diagnosed as PHP-Ⅰa, meanwhile, seven carried GNAS variations and five had methylation abnormalities with a correct diagnosis of PHP-Ⅰb.Conclusions:Patients with AHO phenotype and PTH resistance may have a high genetic diagnosis rate. Because PHP-Ⅰb clinical phenotype may be similar to PHP-Ⅰa, early genetic detection is required for the differential diagnosis. In addition, children without PTH resistance should also be followed up regularly, which may help the early diagnosis.

Objective    Zero-events studies frequently occur in systematic reviews of adverse events, which consist of an important source of evidence. We aimed to examine how evidence of zero-events studies was utilized in the meta-analyses of systematic reviews of adverse events. Methods    We conducted a survey of systematic reviews published in two periods: January 1, 2015 to January 1, 2020 and January 1, 2008, to April 25, 2011. Databases were searched for systematic reviews that conducted at least one meta-analysis of any healthcare intervention and used adverse events as the exclusive outcome. An adverse event was defined as any untoward medical occurrence in a patient or subject in healthcare practice. We summarized the frequency of occurrence of zero-events studies in eligible systematic reviews and how these studies were dealt with in the meta-analyses of these systematic reviews. Results    We included 640 eligible systematic reviews. There were 406 (63.45%) systematic reviews involving zero-events studies in their meta-analyses, among which 389 (95.11%) involved single-arm-zero-events studies and 223 (54.93%) involved double-arm-zero-events studies. The majority (98.71%) of these systematic reviews incorporated single-arm-zero-events studies into the meta-analyses. On the other hand, the majority (76.23%) of them excluded double-arm-zero-events studies from the meta-analyses, of which the majority (87.06%) did not discuss the potential impact of excluding such studies. Systematic reviews published at present (2015-2020) tended to incorporate zero-events studies in meta-analyses than those published in the past (2008-2011), but the difference was not significant [proportion difference=–0.09, 95%CI (–0.21, 0.03), P=0.12]. Conclusion    Systematic review authors routinely treated studies with zero-events in both arms as "non-informative" carriers and excluded them from their reviews. Whether studies with no events are "informative" or not, largely depends on the methods and assumptions applied, thus sensitivity analyses using different methods should be considered in future meta-analyses.

This paper reviews the clinical researches on acupuncture and moxibustion treating female overactivity of bladder (OAB), and finds that acupuncture and moxibustion treating female OAB hastheraputic effect with simplicity, little adverse reaction and could take effect in a short period of time. Electroacupuncture has combined the effects of acupuncture and nerve electrical stimulation treatment, and it takes few acupoints and is easy to operate. The main acupoints of one or more points of Baliao acupoints shows obvious clinical effect, and navel moxibustion method and auriculo-acupuncture can improve the frequency and urgency of urination of OAB. The combination of using acupuncture and moxibustionhas certaineffect, however, due to the complicated procedures and long treatment courses, it’s not used widely in cinic.

Objective: To evaluate the efficacy of Fufang-Xuanju capsule combined with levofloxacin mesylate tablets in the treatment of chronic epididymitis. Methods: A total of 76 patients in the Urology Department of Xiyuan Hospital of China Academy of Chinese Medical Sciences who met the inclusion criteria from December 2016 to February 2019, were divided into treatment group (43 cases) and control group (33 cases). The control group was given levofloxacin mesylate tablets orally. The treatment group was given Fufang-Xuanju capsule based on the control group. Both groups were treated for 4 weeks. Chronic epididymitis symptom index (CESI) was used to evaluate the clinical efficacy by pain score and quality of life score. Results: The total effective rate was 83.7% (36/43) in the treatment group and 63.6% (26/33) in the control group. There was statistically significant difference between the two groups (χ²=4.020, P=0.045). Compared with baseline, the pain scores, quality of life scores and total scores of both groups at 2, 4 weeks after treatment were significantly lower (P<0.01). Two weeks after the treatment, the pain scores, quality of life scores and total scores in the treatment group were significantly lower than those of the control group (F value were 16.132, 9.134 and 23.681, respectively, all Ps<0.01). And 4 weeks after the treatment, the pain scores, quality of life scores and total scores of the treatment group were significantly lower than that of the control group (F value were 28.741, 74.049, 72.483, respectively, all Ps<0.01). Conclusions Fufang-Xuanju capsule combined with levofloxacin mesylate tablets can alleviate the pain of patients with chronic epididymitis, improve the quality of life and improve the clinical efficacy.

TORCH, which is considered as a series of pathogens, including the Toxoplasma gondii, Rubella virus, Cytomegalovirus or Herpes simplex virus, often infects the pregnant women to induce the the fetus or newborn infection by transplacental infection or exposure to contaminated genital tract secretions at delivery. Increasing evidence have been confirmed that the infection of TORCH may cause the miscarriage, premature birth, malformed fetus, stillbirth, intrauterine growth retardation, neonatal multiple organ dysfunction and other adverse pregnancy outcomes. For most TORCH-infections cases may lacking the effective treatments during pregnancy, and it is important to achieve the effacing monitoring of TORCH infections before and during pregnancy. The laboratory testing of TORCH has the great significance. However, the consensus opinions still need to improve the the standardization of TORCH testing process and the correct interpretation. Based on the characteristics of the TORCH detection method, this article gives a consensus opinion on the standardized detection and clinical application of TORCH from the laboratory perspective according to the characteristics and types of infection of different pathogens.

Objective : To evaluate the immune effects of inactivated H7N9 influenza vaccine. Methods : We searched several common databases（The Cochrane Library,PubMed,China Biology Medicine disc,China National Knowledge Infrastructure,etc.）for research articles about immune effects of H7N9 influenza vaccine published from the time the database built to July 10th of 2018,using H7N9 and vaccine as keywords. After screening the articles according to the inclusion and exclusion criteria,we assessed the quality of the studies and then employed seroconversion rate（SCR）as an outcome indicator to analyze the immune effects of different doses and adjuvants. Results : We recruited 5 articles on inactivated H7N9 influenza vaccine from 1 679 articles. The sample size was 2 579. The results of the meta-analysis showed that the rate difference（RD）values of SCR in each dose group after the first dose ranged from 1% to 10%,which indicated a poor protective effect;after the second dose of immunization,the RD values of SCR in the vaccines without adjuvants ranged from 13% to 19%,which was not effective enough;the RD values of SCR in the vaccines with adjuvants ranged from 62% to 69%,which met the licensing criteria for influenza vaccine;better results could be achieved when immunized with two doses of vaccines with adjuvants（ RR=1.19,95%CI：1.02-1.39）;vaccines with AS03 or MF59 at the lowest dose of 3.75 μg had the same immune effects as ones at a dose of 15 μg;vaccines with AS03（RD=89%,95%CI：85%-93%）were superior to those with MF59（RD=42%,95%CI：9%- 75%）. Conclusion Inactivated H7N9 influenza vaccines could achieve good immune effects when inoculated two doses with adjuvants,and the minimum effective dose was 3.75 μg.

Objective To observe the effects of Wenxinkeli combination use with buspirone on the treatment of cardiac neurosis with ST-T changes.Methods Ninety patients with cardiac neuropathy were randomly divided into placebo group, Wenxin Granule group and combination use group (Wenxinkeli combination use with buspirone),30 cases in each group.The scores of HAMA-14 and HAMD-24 of the three groups were observed at the end of 4 and 8 weeks after treatment when the score of SF-36 and the improvement of ST-T of combination use group were evaluated followed 12 weeks treatment.Results After 4 weeks of treatment, the two scale scores of combination use group and the Wenxinkeli group, including HAMD-24 and HAMA-14, were significantly lower than the placebo group (P<0.05).In comparison with placebo group, the scores of HAMD-24 and the HAMA-14 were significantly lower after 8 weeks treatment.After 12 months of follow-up treatment, the SF-36 scores of combination use group were significantly higher than the other two groups'(P<0.05).Meanwhile, our results showed that the ST-T changes of the combination use group was significantly improved than the other two groups'(P<0.05).Conclusion The treatment of Wenxinkeli combination use with buspirone can significantly decrease anxiety and improve depression in patients with cardiac neurosis, moreover, long-term combination use treatment can distinctly improve patients' quality of life and relieve their physical symptoms of ST-T changes.

Objective: To investigate the expression of programmed death-1 (PD-1) in liver tissue and its association with liver pathology in patients with autoimmune hepatitis (AIH). Methods: A total of 54 AIH patients (38 in the active stage and 16 in the remission stage) were enrolled, and 9 healthy volunteers were enrolled as control group. Immunohistochemistry combined with quantitative image analysis was used to measure the expression of PD-1 in liver tissue. The t-test, rank sum test, one-way analysis of variance, least significant difference t-test, Mann-Whitney U test, and Pearson relation analysis were used for statistical analysis of different types of data. Results: The AIH group had a significantly higher positive rate of PD-1 in liver tissue than the control group (13.57%±6.84% vs 2.22%±0.66%, P < 0.01), and the patients in the active stage of AIH had a significantly higher positive rate of PD-1 in liver tissue than those in the remission stage (16.53%±7.72% vs 6.56%±3.16%, P < 0.01). The positive rate of PD-1 in liver tissue was 6.56%±3.16% in G0 group, 14.33%±5.08% in G1-2 group, and 19.23%±5.41% in G3-4 group (P < 0.01), but there was no significant difference in the positive rate of PD-1 between S0, S1-2, and S3-4 groups (P > 0.05). In AIH patients, the positive rate of PD-1 in liver tissue was positively correlated with the levels of total bilirubin, alanine aminotransferase, aspartate aminotransferase, and IgG (r = 0.665, 0.721, 0.711, and 0.813, all P < 0.01). Conclusion AIH patients have regulated PD-1 expression in liver tissue, which is closely associated with liver inflammation and is not associated with fibrosis degree, suggesting that PD-1 is involved in the development and progression of inflammation in AIH patients.