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简介：AbstractObjective:This study was to supply information of the Duchenne muscular dystrophy (DMD) mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD/Becker muscular dystrophy genetic counseling and prenatal diagnosis.Methods:In this retrospective cohort study, three hundred and five pregnancies in 303 pregnant women who has a birth history of DMD/Becker muscular dystrophy patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification followed by Sanger sequencing between January 2014 and December 2018 at Peking Union Medical College Hospital. The mean age of pregnant women was (33.0 ± 4.1) years old. Karyotype analysis was performed to exclude fetal abnormal karyotype.Results:The detection rate of DMD gene mutation in 303 probands was (296/303) 97.7% with seven families having a negative genetic diagnosis. The mutational spectrum comprised of large arrangements in 288/303 (95.0%) and small mutations in 8/303 (2.6%). Carrier testing was performed among 204 pregnant women among whom, 108 mothers had the same mutation as family proband. Of the 305 pregnancies underwent prenatal diagnosis, 55 of 173 male fetuses were affected. We also performed karyotype analysis and found three abnormal karyotypes of trisomy 21. We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis. We also identified two times of germline mosaicism.Conclusion:This study demonstrated the distribution and mutation profile of 303 probands and 305 fetuses. Furthermore, considering the possbility of maternl germilne mosaicism, prenatal diagnosis should be suggested to mothers with a proband whether they carry the causative mutation in their blood or not.

简介：AbstractBackground:Sudden sensorineural hearing loss (SSHL) refers to the sudden occurrence of unexplained sensorineural hearing loss. The present study showed that different systemic diseases had different influence on the occurrence and hearing outcome of SSHL. Thyroid hormone is one of the important factors for the development of fetal ear and auditory function. However, the distribution of thyroid dysfunction in SSHL patients and the effect of thyroid dysfunction on the occurrence and hearing outcome of SSHL has not been studied.Methods:In this study, a retrospective analysis had been done in 676 patients with SSHL. We had described the distribution of thyroid function in patients with SSHL in detail, and by the statistical method, analyzed the relationship between the hearing outcome and thyroid dysfunction, respectively.Results:In all patients, 24.41% (165/676) had abnormal thyroid function testing results. The onset age of SSHL in FT3 abnormal group (including low and high group) was younger than that in normal FT3 group. Recovery group had more patients with lower-than-normal T3 level as compared to non-recovery patients. Significant associations between T3 levels and hearing outcome were observed in the subgroup with longer time elapse between symptom onset and treatment (≥14 d).Conclusion:The incidence of thyroid dysfunction in SSHL is significantly higher than in the general population. There was obvious relationship between T3 and FT3 item of thyroid dysfunction and the onset time and hearing outcome of SSHL, which indicated that T3 or FT3 indicator may be one of the affecting factors for the SSHL. Early screening and diagnosis of thyroid dysfunction, especial T3 level, may help to evaluate the prognosis in SSHL patients.

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简介：AbstractBackground:Several recent genome-wide association studies suggested insomnia and anemia may share some common genetic components. We thus examined whether adults with anemia had higher odds of having insomnia relative to those without anemia in a cross-sectional study and a meta-analysis.Methods:Included in this cross-sectional study were 12,614 Chinese adults who participated in an ongoing cohort, the Kailuan Study. Anemia was defined as hemoglobin levels below 12.0 g/dL in women and 13.0 g/dL in men. Insomnia was assessed using the Chinese version of the Athens Insomnia Scale (AIS). A total AIS score ≥6 was considered insomnia. The association between anemia and insomnia was assessed using a logistic regression model, adjusting for potential confounders such as age, sex, chronic disease status, and plasma C-reactive protein concentrations. A meta-analysis was conducted using the fixed effects model to pool results from our study and three previously published cross-sectional studies on this topic in adult populations.Results:Individuals with anemia had greater odds of having insomnia (adjusted odds ratio [OR]: 1.32; 95% confidence interval [CI]: 1.03-1.70) compared with individuals without anemia. A significant association persisted after we excluded individuals with chronic inflammation, as suggested by C-reactive protein levels >1 mg/L (adjusted OR: 1.68; 95% CI: 1.22-2.32). The meta-analysis results, including 22,134 participants, also identified a positive association between anemia and insomnia (pooled OR: 1.39; 95% CI: 1.22-1.57).Conclusions:The presence of anemia was significantly associated with a higher likelihood of having insomnia in adults. Due to the nature of the cross-sectional study design, results should be interpreted with caution.

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简介：AbstractBackground:Implementation of control programmes for Strongyloides stercoralis infection is among the targets of the World Health Organization Roadmap to 2030. Aim of this work was to evaluate the possible impact in terms of economic resources and health status of two different strategies of preventive chemotherapy (PC) compared to the current situation (strategy A, no PC): administration of ivermectin to school-age children (SAC) and adults (strategy B) versus ivermectin to SAC only (strategy C).Methods:The study was conducted at the IRCCS Sacro Cuore Don Calabria hospital, Negrar di Valpolicella, Verona, Italy, at the University of Florence, Italy, and at the WHO, Geneva, Switzerland, from May 2020 to April 2021. Data for the model were extracted from literature. A mathematical model was developed in Microsoft Excel to assess the impact of strategies B and C in a standard population of 1 million subjects living in a strongyloidiasis endemic area. In a case base scenario, 15% prevalence of strongyloidiasis was considered; the 3 strategies were then evaluated at different thresholds of prevalence, ranging from 5 to 20%. The results were reported as number of infected subjects, deaths, costs, and Incremental-Effectiveness Ratio (ICER). A 1-year and a 10-year horizons were considered.Results:In the case base scenario, cases of infections would reduce dramatically in the first year of implementation of PC with both strategy B and C: from 172 500 cases to 77 040 following strategy B and 146 700 following strategy C. The additional cost per recovered person was United States Dollar (USD) 2.83 and USD 1.13 in strategy B and C, respectively, compared to no treatment in the first year. For both strategies, there was a downtrend in costs per recovered person with increasing prevalence. The number of adverted deaths was larger for strategy B than C, but cost to advert one death was lower for strategy C than B.Conclusions:This analysis permits to estimate the impact of two PC strategies for the control of strongyloidiasis in terms of costs and adverted infections/deaths. This could represent a basis on which each endemic country can evaluate which strategy can be implemented, based on available funds and national health priorities.

简介：AbstractSwine acute diarrhea syndrome coronavirus (SADS-CoV) is a recently discovered coronavirus that causes severe and acute diarrhea and rapid weight loss in piglets. SADS-CoV was reported to be capable of infecting cell lines derived from diverse species, including bats, mice, hamsters, rats, chickens, pigs, nonhuman primates, and humans, implying its high risk of cross-species infection. However, its receptor is still unknown. In this study, the receptor-binding domain of the SADS-CoV spike (S) protein was purified and then subjected to affinity purification (AP)-coupled mass spectrometry (MS)-based proteomic analysis to identify the interactors of the SADS-CoV S protein. Forty-three host proteins were identified, and a Gene Ontology analysis indicated that these interactors can be grouped into categories such as "cell-cell adhesion" , "translation" "viral transcription" , suggesting that these processes may participate in the SADS-CoV life cycles. RNA interference-based screening of these interactors indicated that PPIB and vimentin can affect SADS-CoV replication. Our study provides an overarching view into the host interactome of the SADS-CoV S protein and highlights potential targets for the development of therapeutics against SADS-CoV.

简介：AbstractBackground:To explore central nervous system (CNS) involvement in this disease, from the perspectives of diagnosis, treatment, and misdiagnosisMethods:Twenty-eight patients with CNS echinococcosis were included in this retrospective study, including 18 males (64.3%) and 10 (35.7%) females. The average age of all the patients were 23.5 years (ranged 4-60 years). Twenty-three (23) patients (82.1%) received the first surgical resection in our hospital. Five (5) patients (17.9%) gave up surgical treatment for multiple-organ hydatidosis and previous surgery history at other hospitals, and albendazole was applied for a long-term (3-6 months) adjunct therapy for the 5 patients. The average follow-up time was 8 years.Results:For the 28 patients, 23 cases received surgical treatments, and the diagnosis was confirmed by pathological examinations. The diagnosis of 4 cases of brain echinococcosis and 2 cases of spinal cord echinococcosis could not be confirmed, resulting in a misdiagnosis rate of 21.4% (6/28). For the pathological examination, a total of 17 cases were infected with Echinococcus granulosus (including 2 cases of spinal cord echinococcosis), and 6 cases were infected with Echinococcus alveolaris.Conclusion:The diagnosis should be specifically considered in endemic regions. The clinical features of CNS hydatidosis were intracranial space-occupying lesions. For the treatment, the surgical removal of cysts should be necessary. In addition, the adjuvant therapy with drug and intraoperative prophylaxis is also suggested. The misdiagnosis may have resulted from atypical clinical features and radiographic manifestations, as well as the accuracy of hydatid immunologic test.

简介：AbstractBackgrounds:Previous surveys have found that children with iron deficiency (ID) were likely to suffer from early childhood caries (ECC). We aimed to assess the scientific evidence about whether ID is intrinsically related to ECC.Methods:The medical subject headings (MeSH) terms and free words were searched on PubMed, Web of Science, Cochrane, China National Knowledge Infrastructure, Wanfang, and the Database for Chinese Technical Periodicals from March 2020 to September 2020. Two researchers independently screened the articles. Data extraction and cross-checking were performed for the studies that met the inclusion criteria. Meta-analysis was performed using the Cochrane Collaboration’s Review Manager 5.3 software.Results:After excluding duplication and irrelevant literature, 12 case-control studies were included in the study. The meta-analysis demonstrated that children with ECC were more likely to have ID (odds ratio [OR] = 2.63, 95% confidence interval [CI]: [1.85, 3.73], P < 0.001). There was no statistically significant association found between the level of serum ferritin and ECC (weighted mean difference (WMD) = -5.80, 95% CI: [-11.97, 0.37], P= 0.07). Children with ECC were more likely to have iron-deficiency anemia (OR = 2.74, 95% CI: [2.41,3.11], P < 0.001). The hemoglobin (HGB) levels in the ECC group were significantly lower compared with that in the ECC-free group (WMD = -9.96, 95% CI: [-15.45, -4.46], P = 0.0004). The mean corpuscular volume (MCV) levels in the ECC group were significantly lower compared with that in the ECC-free group (WMD = -3.72, 95% CI: [-6.65, -0.79], P= 0.01).Conclusions:ID was more prevalent in children with ECC, and the markers of iron status in the ECC group, such as serum ferritin, HGB, and MCV, were relatively lower than the ECC-free group.

简介：AbstractBackground:Endoscopic third ventriculostomy (ETV) has been established as a viable treatment option for obstructive hydrocephalus of children over 6 weeks of age. ETV in pediatric groups may be unsuccessful due to the failure of absorption of cerebrospinal fluid (CSF) or reclosure of ventriculostomy stoma or due to infection. The exact cause is still debatable. Some issues like failure to eliminate the second membrane during the procedure or formation of the new arachnoid membrane at the stoma are still not clear. This study aims to assess the surgical failure of ETV and its predisposing factors.Methods:Thirty-four pediatric patients with hydrocephalus were analyzed retrospectively. The patients’ age limit was between 2.5 months and 14 years. This is a retrospective study of 34 patients in a single private hospital between June 2012 and January 2018. Patients having hydrocephalus in pediatric groups more than 6 weeks of age were included in the study.Results:The mean age of all patients was 51.25 ± 53.90 months and the mean follow-up period was 50.47 ± 20.84 months. Of 34 surgeries, the success rate was 79% and the failure rate was 21%. Within 2 years, the success rate was 68.42% and above 2 years’ success rate was 93.33%. In this series, 7 cases of ETV were re-explored and found ventriculostomy stoma closure in 3 cases, the presence of the second membrane in re-exploration 2 cases, and presence of inflammatory arachnoid membrane in re-exploration 2 cases. The use of dexamethasone around the stoma in inflammatory stoma was useful, having no recurrence. In one patient of the second membrane probably due to absorption failure in communicating hydrocephalus re-exploration was failed and was managed successfully with VP shunt.Conclusions:Predisposing factors causing ETV failure are ventriculostomy stoma closure by new arachnoid granulation tissues, remnants of the second membrane inside the stoma, CSF absorption failure, infection/high protein in CSF and inappropriate patient selection.