MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation,universal nomenclature collation,and reference genome conversion

Accurate mitochondrial DNA (mtDNA) variant annotation is essential for the clinical diagnosis of diverse human diseases. Substantial challenges to this process include the inconsistency in mtDNA nomenclatures, the existence of multiple reference genomes, and a lack of reference population frequency data. Clinicians need a simple bioinformatics tool that is user‐friendly, and bioinformaticians need a powerful informatics resource for programmatic usage. Here, we report the development and functionality of the MSeqDR mtDNA Variant Tool set (mvTool), a one‐stop mtDNA variant annotation and analysis Web service. mvTool is built upon the MSeqDR infrastructure ( https://mseqdr.org ), with contributions of expert curated data from MITOMAP ( https://www.mitomap.org ) and HmtDB ( https://www.hmtdb.uniba.it/hmdb ). mvTool supports all mtDNA nomenclatures, converts variants to standard rCRS‐ and HGVS‐based nomenclatures, and annotates novel mtDNA variants. Besides generic annotations from dbNSFP and Variant Effect Predictor (VEP), mvTool provides allele frequencies in more than 47,000 germline mitogenomes, and disease and pathogenicity classifications from MSeqDR, Mitomap, HmtDB and ClinVar (Landrum et al., 2013). mvTools also provides mtDNA somatic variants annotations. “mvTool API” is implemented for programmatic access using inputs in VCF, HGVS, or classical mtDNA variant nomenclatures. The results are reported as hyperlinked html tables, JSON, Excel, and VCF formats. MSeqDR mvTool is freely accessible at https://mseqdr.org/mvtool.php .     

The past,present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine

Precision medicine aims to approach disease treatment and prevention with consideration of the variability in genes, environment, and lifestyle for each person. This focus on the individual is also key to the practice of genetic counseling, whereby foundational professional values prioritize informed and autonomous patient decisions regarding their genetic health. Genetic counselors are ideally suited to help realize the goals of the precision medicine. However, a limited genetic counseling workforce at a time in which there is a rapidly growing need for services is challenging the balance of supply and demand. This article provides historical context to better understand what has informed traditional models of genetic counseling and considers some of the current forces that require genetic counselors to adapt their practice. New service delivery models can improve access to genetic healthcare by overcoming geographical barriers, allowing genetic counselors to see a higher volume of patients and supporting other healthcare providers to better provide genetic services to meet the needs of their patients. Approaches to genetic counseling service delivery are considered with a forward focus to the challenges and opportunities that lie ahead for genetic counselors in this age of precision health.     

Endogenous protein and enzyme fragments induce immunoglobulin E‐independent activation of mast cells via a G protein‐coupled receptor,MRGPRX2

Mast cells play a central role in inflammatory and allergic reactions by releasing inflammatory mediators through 2 main pathways, immunoglobulin E‐dependent and E‐independent activation. In the latter pathway, mast cells are activated by a diverse range of basic molecules (collectively known as basic secretagogues) through Mas‐related G protein‐coupled receptors (MRGPR s). In addition to the known basic secretagogues, here, we discovered several endogenous protein and enzyme fragments (such as chaperonin‐10 fragment) that act as bioactive peptides and induce immunoglobulin E‐independent mast cell activation via MRGPRX 2 (previously known as MrgX2), leading to the degranulation of mast cells. We discuss the possibility that MRGPRX 2 responds various as‐yet‐unidentified endogenous ligands that have specific characteristics, and propose that MRGPRX 2 plays an important role in regulating inflammatory responses to endogenous harmful stimuli, such as protein breakdown products released from damaged or dying cells.     

The accuracy of diagnostic tests for adenoid hypertrophy: A systematic review

BackgroundAdenoid hypertrophy may cause sleep-disordered breathing and altered craniofacial growth. The authors conducted a study to gauge the accuracy of alternative tests compared with nasoendoscopy (reference standard) for screening adenoid hypertrophy.MethodsThe authors conducted a systematic review that included searches of electronic databases, hand searches of bibliographies of relevant articles and gray literature searches. They included all articles in which an alternative test was compared with nasoendoscopy in children with suspected nasal or nasopharyngeal airway obstruction.ResultsThe authors identified seven articles that were of poor to good quality. They identified the following alternative tests: multirow detector computed tomography (sensitivity, 92 percent; specificity, 97 percent), videofluoroscopy (sensitivity, 100 percent; specificity, 90 percent), rhinomanometry with decongestant (sensitivity, 83 percent; specificity, 83 percent) and clinical examination (sensitivity, 22 percent; specificity, 88 percent). Lateral cephalograms tended to have good to fair sensitivity (typically 61-75 percent) and poor specificity (41-55 percent) when adenoid size was evaluated but excellent to good specificity when airway patency was evaluated (68-96 percent).ConclusionsNo ideal tool exists for dentists to screen adenoid hypertrophy, owing to access constraints, radiation concerns and suboptimal diagnostic accuracy. Research is needed to identify a low-risk, easily acceptable, highly valid diagnostic screening tool.Practical ImplicationsAlthough lateral cephalograms (which have good to fair sensitivity) and a thorough medical history (which has good specificity) are imperfect individually, when they are used together, they can compensate for each other's weaknesses. This combined approach is the best tool available to dentists for screening adenoid hypertrophy.     

颌骨大型牙源性囊性病变的微创治疗

目的探讨袋成形术联合应用阻塞器治疗颌骨大型牙源性囊性病变的临床效果。方法颌骨大型牙源性囊性病变患者36例,采用袋成形术联合应用阻塞器治疗,术后3、6、12个月复诊,行临床检查及拍摄X线曲面断层片,记录囊腔影像面积变化,术后6~12个月对仍存留的囊肿行Ⅱ期囊肿刮切术。结果 36例患者术后3~6个月面部膨隆畸形均基本消失或完全消失,无1例患者出现伤口感染;10例患者囊腔体积缩小大于90%,24例囊腔体积缩小率达到80%~90%,2例囊腔体积缩小在60%以上;Ⅱ期囊肿刮切术后继续随访1年囊肿无复发,形态功能均恢复良好。结论袋成形术联合应用阻塞器治疗颌骨大型囊性病变,可改善患者颌骨膨隆畸形,最大程度保留颌骨解剖结构及生理功能,疗效肯定。     

广州市荔湾区替牙期儿童龋齿及错畸形综合防治效果分析

目的探讨广州市荔湾区替牙期儿童窝沟封闭防龋、前牙反和开防治的效果及影响因素。方法对广州市荔湾区2009年至2013年全区适龄儿童实施窝沟封闭防龋项目;同时于2012年对荔湾区9-11岁儿童错畸形进行调查,并对前牙反和开进行干预性治疗,收集的相关数据进行统计分析。结果在广州市荔湾区,实施儿童第一恒磨牙窝沟封闭最佳对象是二年级学生（7-8岁）;荔湾区窝沟封闭项目进展相对顺利,影响项目的主要因素包括民众的认知度以及医护人员规范化操作和责任心;替牙期前牙反矫治成功率高,复发率低;前牙开矫治成功率高,但复发率也高;前牙反和开儿童就诊治疗率低。结论广州市荔湾区二年级学生（7-8岁）应尽早实施窝沟封闭;政府加强宣传教育有助于提高窝沟封闭的普及率。替牙期前牙反的早期矫治疗效显著,值得推广;前牙开早期治疗对形态功能的恢复及矫治后的稳定性有事半功倍的效果;政府可考虑加大力度推广替牙期错畸形的防治工作。     

实施服务满意工程 打造护理服务品牌

目的树立护理服务的优质品牌，提升病人的满意度。方法通过加强服务培训、开展系列活动、运用激励机制、加强监督检查等有教的管理手段。增强实旌满意工程的效果。结果实施满意工程3年来．出院病人对护理服务的满意率由89.40％上升到95．94％病人的表扬信较前增加了43％。院级服务之星70名，技术能手58名，2名护理人员评为全军模范护士，6个病区被评为“兰优病区”，病区管理合格率均在98％以上，健康教育覆盖率达到100％。2002年本院顺利通过ISO9000质量体系认证审核。结论实施满意工程作为一项护理管理措施，对树立护理服务品牌、提升病人对医院品牌的信任度起到积极的促进作用。