Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia,intractable epilepsy,and complex gastrointestinal and urogenital malformations

Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations.     

Independent Early Childhood Education Centers’ Experiences Implementing the Revised Child and Adult Care Food Program Meal Pattern Standards: A Qualitative Exploratory Study

BackgroundNationally, approximately one-third of early childhood education centers participating in the Child and Adult Care Food Program (CACFP) are independently owned and operated (ie, not owned by a corporation, not affiliated with Head Start, and with no food program sponsor). Independent providers are less likely to meet CACFP standards and best practices and would benefit from additional support and technical assistance.ObjectiveTo explore independent early childhood education center key informants’ (KIs) (ie, directors or relevant staff) perspectives on implementing the revised CACFP standards.DesignFollowing qualitative exploratory design, semistructured, in-depth, telephone interviews were conducted with KIs individually.Participants/settingIn summer 2018, 30 randomly sampled KIs from independent CACFP-participating early childhood education centers serving children ages 2 to 5 years nationwide were interviewed. Participants were sampled from respondents to a previously completed nationwide survey of providers.Main outcomesKIs’ perspectives on the CACFP program and revised meal pattern standard implementation.Analysis performedAfter audio recordings were professionally transcribed and reviewed, constant comparative analysis was conducted using Atlas.ti v8 qualitative software (Atlas.ti. version 8 for Windows, 2018, Scientific Software Development GmbH).ResultsKIs indicated that program benefits (eg, health and nutrition benefits, reimbursement, guidelines, and training) outweighed challenges experienced. Challenges associated with revised CACFP standards implementation (eg, availability or acceptability of new, creditable foods) were impacted by enhanced CACFP standards status, reported revised standards, and availability or utilization of outside support. KIs desired more contact with their state representative. KIs found the training and technical assistance on the revised standards useful and suggestions to enhance future training and technical assistance (eg, increasing accessibility, training resources, and audience-specific training).ConclusionsOverall, KIs desired additional resources, training, and increased communication from CACFP state representatives specific to CACFP-approved and reimbursable products, menu ideas, recipes, and cooking demonstrations. The present study suggests that a more tailored training and technical assistance approach is necessary as reported benefits, challenges, and program needs varied based on state-enhanced CACFP standards, reported familiarity with the revised meal pattern, and reported outside support.     

A scoping Review of tools used to assess patient Complexity in rheumatic disease

ObjectivePatients with rheumatic diseases often have multiple comorbidities which may impact well‐being leading to high psychosocial complexity. This scoping review was undertaken to identify complexity measures/tools used in rheumatology that could help in planning and coordinating care.MethodsMEDLINE, EMBASE and CINAHL were searched from database inception to 14 December 2019 using keywords and Medical Subject Headings for “care coordination”, “complexity” and selected rheumatic diseases and known complexity measures/tools. Articles describing the development or use of complexity measures/tools in patients with adult rheumatologic diagnoses were included regardless of study design. Included articles were evaluated for risk of bias where applicable.ResultsThe search yielded 407 articles, 37 underwent full‐text review and 2 were identified during a hand search with 9 included articles. Only 2 complexity tools used in populations of adult patients with rheumatic disease were identified: the SLENQ and the INTERMED. The SLENQ is a 97‐item patient needs questionnaire developed for patients with systemic lupus (n = 1 study describing tool development) and applied in 5 cross‐sectional studies. Three studies (a practice article, trial and a cross‐sectional study) applied the INTERMED, a clinical interview to ascertain complexity and support coordinated care, in patients with rheumatologic diagnoses.ConclusionsThere is limited information on the use of patient complexity measures/tools in rheumatology. Such tools could be applied to coordinate multidisciplinary care and improve patient experience and outcomes.Patient contributionThis scoping review will be presented to patient research partners involved in co‐designing a future study on patient complexity in rheumatic disease.     

Management of Chronic Pain in Long-Term Care: A Systematic Review and Meta-Analysis

ObjectivesPain, a complex subjective experience, is common in care home residents. Despite advances in pain management, optimal pain control remains a challenge. In this updated systematic review, we examined effectiveness of interventions for treating chronic pain in care home residents.DesignA Cochrane-style systematic review and meta-analysis using PRISMA guidelines.Setting and ParticipantsRandomized and nonrandomized controlled trials and intervention studies included care home residents aged ≥60 years receiving interventions to reduce chronic pain.MethodsSix databases were searched to identify relevant studies. After duplicate removal, articles were screened by title and abstract. Full-text articles were reviewed and included if they implemented a pain management intervention and measured pain with a standardized quantitative pain scale. Meta-analyses calculated standardized mean differences (SMDs) using random-effect models. Risk of bias was assessed using the Cochrane Risk-of-Bias Tool 2.0.ResultsWe included 42 trials in the meta-analysis and described 13 more studies narratively. Studies included 26 nondrug alternative treatments, 8 education interventions, 7 system modifications, 3 nonanalgesic drug treatments, 2 analgesic treatments, and 9 combined interventions. Pooled results at trial completion revealed that, except for nonanalgesic drugs and health system modification interventions, all interventions were at least moderately effective in reducing pain. Analgesic treatments (SMD ?0.80; 95% CI ?1.47 to ?0.12; P = .02) showed the greatest treatment effect, followed by nondrug alternative treatments (SMD ?0.70; 95% CI ?0.95 to ?0.45; P < .001), combined interventions (SMD ?0.37; 95% CI ?0.60 to ?0.13; P = .002), and education interventions (SMD ?0.31; 95% CI ?0.48 to ?0.15; P < .001).Conclusions and ImplicationsOur findings suggest that analgesic drugs and nondrug alternative pain management strategies are the most effective in reducing pain among care home residents. Clinicians should also consider implementing nondrug alternative therapies in care homes, rather than relying solely on analgesic drug options.     

推进整体护理提高护理质量

介绍了四川省以点带面开展整体护理的做法,取得的成效,存在的问题与对策,并提出了下一步的工作目标与计划设想.要求转变观念,加强培训;保证人力配备,提高综合素质.     

地段医院转为社区卫生服务中心后的工作思路

论述了地段医院转为社区卫生服务中心后的工作思路:适应形势,转变观念,将工作重点放在加快硬件建设,强化人才培养,进行科室重组。同时还要合理设置社区卫生服务点积极开设家庭病床,实行上门服务,推广户籍医生制度,逐步建立家庭健康基础档案。     

伤病比在医院维权中的运用

为了保证民法的公平原则,避免医疗纠纷赔偿案件审理中忽视患者本身病情所致的不良后果的情况,对损伤与疾病对患者预后的影响进行了研究.介绍了伤病比的来源,论述了伤病比在医疗纠纷处理中的适用 范围,伤病比的级别与医院承担的赔偿额度.指出应增强伤病比意识,促进医与法的完美结合.     

Criteria for intensive care unit admission and severity of illness

Intensive care is a specialist area of the hospital with concentration of resources and expertise to look after critically unwell patients. No set criteria exist for admission to intensive care, although patients usually have severe illness associated with physiological dysfunction and actual or impending organ failure. There are multiple scoring systems designed to assess severity of illness, all with significant limitations. The National Early Warning Score 2 (NEWS-2) is a commonly used ‘track and trigger’ system designed to detect and respond to the unwell or deteriorating patient. NEWS-2 is marker of physiological disturbance and high scores correlate with intensive care admission and mortality. Looking at the elective and emergency surgical population, patients at high risk of complications should be admitted to intensive care postoperatively. Increasing age, comorbidities, poor exercise tolerance and major surgical intervention are associated with adverse outcomes. Admission to intensive care often requires difficult time-critical decisions to be made with limited information. Intensive care admission can be the difference between life and death, but there are both physical and psychological harm associated with invasive organ support. The four pillars of medical ethics – autonomy, beneficence, non-maleficence and justice – can be used to guide these decisions.