Prader–Willi Syndrome: A spectrum of anatomical and clinical features

Prader–Willi Syndrome (PWS) is estimated to affect 400,000 people worldwide. First described clinically in 1956, PWS is now known to be a result of a genetic mutation, involving Chromosome 15. The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. Characteristic facial features such as narrow bifrontal diameter, almond‐shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. In early childhood, the craniofacial features become more obvious and a global developmental delay is observed. Simultaneously, individuals develop hyperphagia that leads to excessive or rapid weight gain, which, if untreated, exists throughout their lifespan and may predispose them to numerous, serious health issues. The standard tool for differential diagnosis of PWS is genetic screening; however, clinicians also need to be aware of the characteristic features of this disorder, including differences between the genetic subtypes. As the clinical manifestations of the syndrome vary between individuals and become evident at different developmental time points, early assessment is hindered. This article focuses on the clinical and anatomical manifestations of the syndrome and highlights the areas of discrepancy and limitations within the existing literature. Clin. Anat. 29:590–605, 2016. © 2016 Wiley Periodicals, Inc.     

Determination of Tedizolid susceptibility interpretive criteria for gram-positive pathogens according to clinical and laboratory standards institute guidelines

For effective antibacterial therapy, physicians require qualitative test results using susceptibility breakpoints provided by clinical microbiology laboratories. This article summarizes the key components used to establish the Clinical Laboratory Standards Institute (CLSI) breakpoints for tedizolid. First, in vitro studies using recent surveillance and clinical trial isolates ascertained minimal inhibitory concentration (MIC) distributions against pertinent organisms, including staphylococci, streptococci, and enterococci. Studies in animal models of infection determined rates of antibacterial efficacy and survival following administration of tedizolid phosphate at doses equivalent to those in humans. Pharmacokinetic and pharmacodynamic analyses examined the relationship between plasma concentrations and MICs against the target organism. Finally, clinical trials assessed clinical and microbiologic outcomes by MIC. All these data were evaluated and combined to obtain the ratified CLSI susceptibility criteria for tedizolid of ≤0.5 μg/mL for Staphylococcus aureus, Streptococcus pyogenes, Streptococcus agalactiae, and Enterococcus faecalis and ≤0.25 μg/mL for Streptococcus anginosus group.     

Science to Practice: IT Solutions to Drive Standardized Report Recommendations for Abdominal Aortic Aneurysm Surveillance

Inadequate imaging surveillance has been identified as the most significant contributor to abdominal aortic aneurysm (AAA) rupture. Radiologists can contribute value to patient care and reduce morbidity and mortality related to AAA by incorporating evidence-based management recommendations from the ACR and Society of Vascular Surgery into their report impression. The challenges lie in achieving 100% radiologist compliance to incorporate the recommendations and ensuring that the patient is notified by their provider, the follow-up examination is scheduled, and the patient returns for an imaging test that may be scheduled 3 to 5 years in the future. To address these barriers, radiology quality and informatics leads have harnessed IT solutions to facilitate integration of content, communication of results, and patient follow-up.     

Prevalence and Preliminary Validation of Screening Criteria to Identify Carriers of Germline BAP1 Mutations

IntroductionInherited mutations are easily detected factors that influence the disease courses and optimal treatment strategies of some cancers. Germline mutations in BRCA1 associated protein 1 (BAP1) are associated with unique disease profiles in mesothelioma, atypical spitz nevi, and uveal melanoma, but the patient characteristics of an unselected population of BAP1 carriers identified by an ascertainment prevalence study are unknown.MethodsWe collected blood samples, cancer histories, and occupational exposures from 183 unselected patients with BAP1-related diseases. Clinical information for each patient was obtained from medical records. Germline DNA was extracted from blood samples and sequenced using a next-generation sequencing assay. We tested screening criteria developed to identify patients with a possible germline BAP1 mutation.ResultsPathogenic or likely pathogenic germline BAP1 mutations were observed in 5 of 180 sequenced specimens and were exclusively found in patients identified by our screening criteria. Several patients with characteristics suspicious for a heritable deleterious mutation did not have a germline BAP1 mutation. The prevalence of pathogenic germline BAP1 mutations in patients with mesothelioma was 4.4% (95% confidence interval 1.1–11.1).ConclusionsResults from the first unselected prevalence ascertainment study of germline BAP1 alterations suggest that the frequency of this mutation is low among patients with mesothelioma. The proposed screening criteria successfully identified all patients with germline BAP1-mutant mesothelioma. These screening guidelines may assist physicians in selecting patients who would benefit from genetic testing. Future efforts should validate and refine these criteria and search for other germline mutations associated with mesothelioma and related diseases.     

EURIPA: EUROPEAN RURAL AND ISOLATED PRACTITIONERS ASSOCIATION

Abstract

Point-of-care tests are biomedical tests on patients’ specimens like blood, saliva, urine or faeces, which can be used near the patient, without interference of a laboratory. The use of these tests, many of which have been recently developed, is increasing in general practice, where they add to the GP's set of diagnostic instruments. The question is, however, whether they always contribute to an effective and high-quality diagnostic process by GPs. We present a set of criteria that can be used by guideline developers, regional primary care organizations and individual GPs to evaluate a new point-of-care test in a practice setting. These criteria do not relate only to their use and quality. A point-of-care test needs to be evaluated in the right population and for the right indications, and GPs then need to use them for the indications for which they were evaluated. Expanding the range of indications can lead to an increase in false-positive and false-negative test results.     

Ten‐Year Retrospective Follow‐Up Study of the TiOblast™ Dental Implant

Purpose: Long‐term results in the clinical outcome of different implant systems, including high patient numbers and a long follow‐up time, are rare. This retrospective study evaluated the cumulative survival rate of a self‐tapping, cylindrical implant system with a conical implant‐abutment connection after 10 years of prosthetic loading. Materials and Methods: A total of 516 TiOblast? implants (Astra Tech AB, Mölndal, Sweden) were placed in 108 patients. The patients were treated in the Department of Oral and Maxillofacial Surgery, Johannes Gutenberg University, Mainz, Germany, between September 1994 and May 2005. The main indications for implantation were the treatment of edentulous mandibles (74%) and partial edentulism (15%). Twenty‐three implants were placed postradiation, and a further 64 implants were irradiated after insertion. In 153 implants, a bony augmentation was conducted prior to implantation. Results: The in situ rate was 89.7% after an average implantation time of 108 months. Eighty‐three patients with 403 implants were available for investigation. Seventeen patients with 76 implants have died since 1994. Absence of osseointegration (n = 22), peri‐implantitis (n = 18), fracture of the implants (n = 9), failing of primary stability (n = 2), and implants next to tumors (n = 2) were the reasons of explantation in 26 patients. Under analysis with different implant success‐assessment criteria, the success rate showed results from 76 to 89%. Conclusion: With respect to the critical patient selection including a high number of patients with minor and major augmentations, the 10‐year clinical use of the studied implant system showed acceptable results.     

Promotion and Prevention in Child,Adolescent and Young People Mental Health: The Greek Experience of Participation in the Mental Health Network Programme of the European Commission

In 1997 the European Commission established the Mental Health Promotion Network to seek out, disseminate and promote best practice in mental health promotion and the prevention of mental disorders. The Network has commissioned a number of projects including two projects addressing the promotion of mental health and prevention of mental disorders in children and adolescents. Anticipated results included the establishment of criteria to identify good practice, development of a European database of good practice and widespread dissemination of good practice that could be implemented throughout the Community. The paper discusses the involvement and experiences of the staff employed in one organisation, from Greece, who have participated in the work Network, and highlights some of the difficulties faced and lessons learnt from participation in a multi-national project.     

北京市社区老年人潜在不适当用药的调查分析

目的 调查北京市社区老年人潜在不适当用药(potentially inappropriate medication,PIM)现状.方法 采用自我报告方式,收集北京市社区215名老年人用药信息,根据2019版美国老年人PIM标准(Beers criteria for PIM use in older adults,Beers标准)和中国老年人潜在不适当用药判断标准(中国PIM标准)评价并做描述性分析.结果 根据2019版Beers标准发现66人(30.7%)存在84例次PIM,其中中枢神经系统药物(36例次)、血液系统药物(14例次)、内分泌系统药物(11例次)导致的PIM最多;采用中国PIM标准发现53人(24.7%)存在73例次PIM,前三位分别为:中枢神经系统药物(31例次),血液系统药物(17例次),解热、镇痛、抗炎与抗风湿药(17例次).结论 社区老年人PIM发生率较高,特别是中枢神经系统和血液系统用药需要引起关注.Beers标准和中国PIM标准可相互补充,且需不断更新完善.