Referral and consultation

转诊和咨询
  • 文章类型: Journal Article
    背景:在资源有限的环境中,对高级医疗机构的不当利用和转诊流程的无效管理正日益成为发展中国家卫生保健管理中的一个问题。其特点是自我转诊和经常绕过最近的保健设施,加上正规转诊机制较低。这种情况适用于在高成本的医疗机构中不必要地管理简单的医疗条件的情况。2021年7月1日,肯雅塔国家医院(KNH)执行了《肯尼亚卫生部门转诊实施指南》。2014年,要求患者获得KNH转诊办公室的批准,并在KNH接受正式的转诊信,以减少步入者的数量,并允许KNH作为肯尼亚2010年宪法和1987年KNH法律雕像所设想的转诊设施。
    目的:确定执行国家转诊指南对KNH骨科入院模式的影响。这是一项干预前研究。在执行国家推荐指南之前和之后,对459和446个图表进行了数据提取,分别。
    结果:国家转诊指南的实施将步入式入院的比例从54.9%降至45.1%,而设施转介的比例从46.6%增加到53.4%(p=0.013)。非创伤骨科入院的百分比从12.0%增加到22.4%(p<0.001)。门诊诊所和企业门诊诊所的入院人数也有所增加。急诊入院比例下降,而选修录取人数增加。选修个案的增加主要是由于有现役保险的女性入院人数增加,高等教育,非创伤相关疾病和老年群体。然而,尽管执行了国家转介指南,但官方正式书面转介信的使用并未改变。
    结论:国家转诊指南的实施降低了KNH入院的比例。虽然国家转介准则的执行对正式书面转介信的使用没有影响,这确实限制了没有有效保险且需要紧急骨科护理的年轻男性患者获得和利用住院骨科服务。
    BACKGROUND: Inappropriate utilization of higher-level health facilities and ineffective management of referral processes in resource-limited settings are becoming increasingly a concern in health care management in developing countries. This is characterized by self-referral and frequent bypassing of the nearest health facilities coupled with low formal referral mechanisms. This scenario lends itself to a situation where uncomplicated medical conditions are unnecessarily managed in a high-cost health facility. On July 1, 2021, Kenyatta National Hospital (KNH) enforced the Kenya Health Sector Referral Implementation Guidelines, 2014, which required patients to receive approval from the KNH referral office and a formal referral letter to be admitted at KNH to reduce the number of walk-ins and allow KNH to function as a referral facility as envisioned by the Kenya 2010 Constitution and KNH legal statue of 1987.
    OBJECTIVE: To determine the effect of enforcing the national referral guidelines on patterns of orthopaedic admissions to the KNH. This was a pre-post intervention study. Data abstraction was done for 459 and 446 charts before and after the enforcement of the national referral guidelines, respectively.
    RESULTS: Enforcement of the national referral guidelines reduced the proportion of walk-in admissions from 54.9% to 45.1%, while the proportion of facility referrals increased from 46.6% to 53.4% (p = 0.013). The percentage of non-trauma orthopaedic admissions doubled from 12.0% to 22.4% (p<0.001). There was also an increase in admissions through the Outpatient Clinic and Corporate Outpatient Clinic. The proportion of emergency admissions declined, while that of elective admissions increased. The increase in elective cases was mainly driven by the increase in female admissions with active insurance cover, tertiary education, non-trauma-related conditions and older age groups. However, the use of official formal written referral letters did not change despite the enforcement of the national referral guidelines.
    CONCLUSIONS: The enforcement of the national referral guidelines reduced the proportion of walk-ins\' admissions to KNH. While the enforcement of the national referral guidelines had no effect on the use of official formal written referral letters, it did limit access and utilization of inpatient orthopedic services for young male patients with no active insurance cover and in need of emergency orthopedic care.
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  • 文章类型: Journal Article
    目的:确定利益相关者内部的协议和利益相关者之间关于全科医生(GP)中骨关节炎运动的信念差异,物理治疗师(PT)和髋关节和膝关节骨关节炎(PwOA)患者。次要目标是探索转诊模式与PwOA信念之间的关联。
    方法:横断面。
    方法:对全科医生进行的在线调查,通过社交媒体和医疗保健网络在爱尔兰的PT和PwOA。
    方法:421个有效响应(n=161个GPs,n=163个PT,n=97PwOA)。
    方法:与锻炼效果有关的九项信念陈述,安全性和交付以5分Likert量表进行评分,并分析利益相关者内部共识.χ2检验评估了组间一致性的差异。多变量线性回归模型测试了PwOA信念与转诊/参加物理治疗之间的关联。
    结果:大多数声明达成了利益相关者内部的积极共识(>75%的共识)(7/9GPs,6/9PT,5/9PwOA)。然而,在6份陈述中,与医疗保健专业人员相比,PwOA的信念明显不那么积极.所有利益相关者都不同意锻炼无论疼痛程度如何都是有效的。参加物理治疗(占PwOA的49%),而不是仅从全科医生转诊到物理治疗,与PwOA的积极运动信念相关(β=0.287(95%CI0.299至1.821))。
    结论:关于骨关节炎的运动疗法的信念在所有利益相关者中都是积极的,虽然PwOA的阳性程度较低。PwOA更可能有积极的信念,如果他们已经看到他们的骨关节炎的PT。知识翻译应突出运动对各级疼痛和骨关节炎疾病的有效性。
    OBJECTIVE: To identify within-stakeholder agreement and between-stakeholder differences in beliefs regarding exercise for osteoarthritis among general practitioners (GPs), physiotherapists (PTs) and people with hip and knee osteoarthritis (PwOA). A secondary objective was to explore the association between referral patterns and beliefs of PwOA.
    METHODS: Cross-sectional.
    METHODS: Online surveys administered to GPs, PTs and PwOA in Ireland via social media and healthcare networks.
    METHODS: 421 valid responses (n=161 GPs, n=163 PTs, n=97 PwOA).
    METHODS: Nine belief statements related to exercise effectiveness, safety and delivery were rated on a 5-point Likert scale and analysed for within-stakeholder consensus. χ2 tests assessed differences in agreement between groups. Multivariable linear regression models tested associations between beliefs in PwOA and referral to/attendance at physiotherapy.
    RESULTS: Positive within-stakeholder consensus (>75% agreement) was reached for most statements (7/9 GPs, 6/9 PTs, 5/9 PwOA). However, beliefs of PwOA were significantly less positive compared with healthcare professionals for six statements. All stakeholders disagreed that exercise is effective regardless of the level of pain. Attendance at physiotherapy (49% of PwOA), rather than referral to physiotherapy from a GP only, was associated with positive exercise beliefs for PwOA (β=0.287 (95% CI 0.299 to 1.821)).
    CONCLUSIONS: Beliefs about exercise therapy for osteoarthritis are predominantly positive across all stakeholders, although less positive in PwOA. PwOA are more likely to have positive beliefs if they have seen a PT for their osteoarthritis. Knowledge translation should highlight the effectiveness of exercise for all levels of pain and osteoarthritis disease.
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  • 文章类型: Journal Article
    背景:尿路感染(UTI)在其一生中影响所有女性的近三分之二,并且许多经历复发性感染。有来自多个国际协会的基于证据的评估和治疗指南;然而,最近基于索赔的分析表明,这些指南的依从性很差。本研究旨在了解美国初级保健提供者(PCP)在为UTI和复发性UTI(rUTI)提供基于指南的护理方面遇到的障碍。
    方法:18个PCP的半结构化访谈,从大洛杉矶地区招募的,检查了UTI/rUTI发作的真实世界临床管理,决定参考亚专科护理,和资源指导咨询和管理。扎根理论方法可用于分析访谈笔录并确定初步和主要主题。
    结果:参与者表示希望获得每次膀胱炎发作的尿液培养物,但由于患者的要求或护理障碍而感到有压力做出妥协。如果患者有rUTI病史,PCP的经验性治疗阈值较低,年纪大了,或拒绝评估。实验室数据在临床决策中的利用最少:在解释培养数据时很少考虑尿液分析。PCP治疗广泛的泌尿系统和非泌尿系统症状作为UTI,即使是负面文化。PCP在开始UTI预防时感觉不舒服,而是寻求解剖原因的专家评估。他们不知道管理指南,通常使用UpToDate®作为其主要资源。提供者很少推荐基于证据的UTI预防干预措施。
    结论:简洁清晰的专业指南的低可用性是适当UTI/rUTI护理的重大障碍。临床指导文件的可用性差导致对预防措施和额外诊断测试的作用的严重混淆。患者获得护理提供者的困难导致对推定治疗的期望。需要进一步的研究来确定是否为提供者和/或管理算法提供改进的教育材料可以改善UTI管理的指南一致性。
    BACKGROUND: Urinary tract infections (UTI) affect almost two-thirds of all women during their lives and many experience recurrent infections. There are evidence-based guidelines from multiple international societies for evaluation and treatment; however, recent claims-based analyses have demonstrated that adherence to these guidelines is poor. This study seeks to understand the barriers experienced by U.S. primary care providers (PCPs) to providing guideline-based care for UTI and recurrent UTI (rUTI).
    METHODS: Semi-structured interviews of 18 PCPs, recruited from the greater Los Angeles area, examined real-world clinical management of UTI/rUTI episodes, decisions to refer to subspecialty care, and resources guiding counseling and management. Grounded theory methodology served to analyze interview transcripts and identify preliminary and major themes.
    RESULTS: Participants expressed the desire to obtain urine cultures for each cystitis episode, but felt pressured to make compromises by patient demands or barriers to care. PCPs had lower thresholds to empirical treatment if patients had a history of rUTIs, were elderly, or declined evaluation. Laboratory data was minimally utilized in clinical decision-making: urinalyses were infrequently considered when interpreting culture data. PCPs treated a broad set of urologic and non-urologic symptoms as UTI, even with negative cultures. PCPs did not feel comfortable initiating UTI prophylaxis, instead seeking specialist evaluation for anatomic causes. They were unaware of management guidelines, typically utilizing UpToDate® as their primary resource. Few evidence-based UTI prevention interventions were recommended by providers.
    CONCLUSIONS: Low availability of succinct and clear professional guidelines are substantial barriers to appropriate UTI/rUTI care. Poor useability of clinical guidance documents results in substantial confusion about the role of preventative measures and additional diagnostic testing. Difficulties in patient access to care providers lead to expectations for presumptive treatment. Future studies are needed to determine if improved educational materials for providers and/or management algorithms can improve guideline concordance of UTI management.
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  • 文章类型: Journal Article
    背景:胰腺导管腺癌(PDAC)预后不良,5年总生存率为10%。2018年11月,NCCN建议所有PDAC患者接受遗传咨询(GC)和种系测试,无论家族史如何。我们假设PDAC患者在指南更改后更有可能被转诊进行检测。不管假定的预测因素,在实施遗传性癌症诊所(HCC)后,依从性将得到进一步改善。
    方法:我们对2017年6月至2021年12月在加州大学诊断为PDAC的患者进行了单机构回顾性分析。Irvine.我们比较了不同诊断时代患者的遗传学转诊率:NCCN指南变更前18个月(NCCN前时代:2017年6月至2018年11月),变化后14个月(后NCCN时代:2018年12月至2020年1月),在HCC创建18个月后(HCC时代:2020年6月至2021年12月)。家族和个人癌症史,遗传学转诊模式,并记录GC的结果。使用卡方比较数据,费希尔确切,和多变量分析。
    结果:共有335例患者接受了PDAC治疗(123个pre-NCCN,109后NCCN,和103HCC)在加州大学,Irvine.各组人口统计学具有可比性。在准则变更之前,与NCCN后时代的54.7%相比,30%的人被提到GC。HCC实施后,77.4%参考GC(P<0.0001)。在具有癌症家族史阳性的患者中,转诊至GC的比值比(OR)随着变化而逐渐降低(NCCN时代之前:OR,11.90[95%CI,3.00-80.14];后NCCN时代:或,3.39[95%CI,1.13-10.76];肝癌时代:OR,3.11[95%CI,0.95-10.16])。
    结论:2018年对PDAC的NCCN指南进行了更新,建议对所有PDAC患者进行种系检测,显着提高了我们学术医疗中心的GC转诊率。HCC的实施进一步提高了对指南的依从性。
    Pancreatic ductal adenocarcinoma (PDAC) has a poor prognosis, with a 5-year overall survival rate of 10%. In November 2018, NCCN recommended that all patients with PDAC receive genetic counseling (GC) and germline testing regardless of family history. We hypothesized that patients with PDAC were more likely to be referred for testing after this change to the guidelines, regardless of presumed predictive factors, and that compliance would be further improved following the implementation of a hereditary cancer clinic (HCC).
    We conducted a single-institution retrospective analysis of patients diagnosed with PDAC from June 2017 through December 2021 at University of California, Irvine. We compared rates of genetics referral among patients in different diagnostic eras: the 18-month period before the NCCN Guideline change (pre-NCCN era: June 2017 through November 2018), 14 months following the change (post-NCCN era: December 2018 through January 2020), and 18 months after the creation of an HCC (HCC era: June 2020 through December 2021). Family and personal cancer history, genetics referral patterns, and results of GC were recorded. Data were compared using chi-square, Fisher exact, and multivariate analyses.
    A total of 335 patients were treated for PDAC (123 pre-NCCN, 109 post-NCCN, and 103 HCC) at University of California, Irvine. Demographics across groups were comparable. Prior to the guideline changes, 30% were referred to GC compared with 54.7% in the post-NCCN era. After the implementation of the HCC, 77.4% were referred to GC (P<.0001). The odds ratio (OR) for referral to GC among patients with a positive family history of cancer progressively decreased following the change (pre-NCCN era: OR, 11.90 [95% CI, 3.00-80.14]; post-NCCN era: OR, 3.39 [95% CI, 1.13-10.76]; HCC era: OR, 3.11 [95% CI, 0.95-10.16]).
    The 2018 updates to the NCCN Guidelines for PDAC recommending germline testing for all patients with PDAC significantly increased GC referral rates at our academic medical center. Implementation of an HCC further boosted compliance with guidelines.
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  • 文章类型: Journal Article
    目的:沙特阿拉伯王国(KSA)的化脓性汗腺炎(HS)的诊断和治疗信息有限。这项Delphi共识研究旨在为KSA中的HS管理提供建议。方法:由12名皮肤科医生组成的专家小组对HS患者的诊断和评估提供了9项共识声明和建议。管理,合并症和多学科方法,和教育。专家们还提出了与HS管理有关的临床问题,并对在KSA执业的119名皮肤科医生进行了调查。结果:涵盖的主题包括:转诊医师对HS的认识;HS的转诊标准;中重度HS的定义;治疗目标;治疗成功的定义;治疗和生物启动;合并症和多学科方法;患者教育和对HS的认识。除了推荐医生对HS的认识外,所有主题都获得了专家皮肤科医生的完全共识(100%),治疗成功的定义,以及治疗和生物启动。调查结果与专家意见一致。结论:由于HS是一种对生活质量有负面影响的慢性疾病,及时诊断和治疗,早期发现合并症和多学科护理方法对于有效管理HS至关重要.
    Purpose: There is limited information about the diagnosis and treatment of hidradenitis suppurativa (HS) in the Kingdom of Saudi Arabia (KSA). This Delphi consensus study was conducted to develop recommendations for the management of HS in the KSA.Methods: The expert panel including 12 dermatologists with extensive experience treating HS patients provided nine consensus statements and recommendations on diagnosis and assessment, management, comorbidities and multidisciplinary approach, and education. The experts also developed clinical questions pertaining to the management of HS and rolled out as a survey to 119 dermatologists practising in the KSA.Results: The topics covered included: referring physicians\' awareness of HS; referral criteria for HS; definition of moderate-to-severe HS; treatment goals; definition of treatment success; treatment and biologic initiation; comorbidities and multidisciplinary approach; patient education and awareness of HS. Full consensus (100%) from the expert dermatologists was received on all the topics except referring physicians\' awareness of HS, definition of treatment success, and treatment and biologic initiation. The survey results resonated with the expert opinion.Conclusion: As HS is a chronic disease with negative impact on quality-of-life, timely diagnosis and treatment, early identification of comorbid conditions and a multidisciplinary care approach are crucial for effective management of HS.
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  • 文章类型: Journal Article
    在中东和非洲(MEA)地区,过度使用口服糖皮质激素(OCS)治疗哮喘,作为爆发和维持治疗,提出了重大挑战。已经注意到,在严重哮喘患者中需要减少OCS以及在合并症中使用OCS方面的知识差距。OCS管理可以帮助实现最佳和有效的OCS缩减,同时减少OCS的过度使用和过度依赖。在本文中,我们讨论了目前在哮喘中使用OCS的做法,在全球和MEA地区。还提出了在多边环境协定区域实现OCS管理的专家建议。区域专家提高患者对OCS过度使用后果的认识,参与社区药剂师,并教育初级卫生保健专业人员关于及时适当转诊的好处。创新的本地转诊工具,如ReferID,可用于将哮喘患者转诊至专科护理。专家们还认可多学科团队方法,并加快获取生物制剂等新药,以实施OCS管理并优化MEA地区的哮喘护理。
    In the Middle East and Africa (MEA) region, overuse of oral corticosteroids (OCS) for asthma management, both as burst and maintenance therapy, poses a significant challenge. Gaps in knowledge regarding the need to taper OCS in patients with severe asthma and the use of OCS in comorbid conditions have been noted. OCS stewardship can help attain optimal and effective OCS tapering along with reducing OCS overuse and over-reliance. In this paper, we discuss current practices regarding the use of OCS in asthma, globally and in the MEA region. Expert recommendations for achieving OCS stewardship in the MEA region have also been presented. Regional experts recommend increasing awareness among patients about the consequences of OCS overuse, engaging community pharmacists, and educating primary healthcare professionals about the benefits of prompt appropriate referral. Innovative local referral tools like ReferID can be utilized to refer patients with asthma to specialist care. The experts also endorse a multidisciplinary team approach and accelerating access to newer medicines like biologics to implement OCS stewardship and optimize asthma care in the MEA region.
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  • 文章类型: Journal Article
    背景:我们假设多学科,主动电子会诊(MPE)可以克服为2型糖尿病(T2D)和慢性肾脏病(CKD)患者开具指南指导药物治疗(GDMT)的障碍.
    方法:我们在学术卫生系统中进行了一项针对T2D的MPE和针对初级保健提供者(PCP)-患者二元组的CKD的疗效实施试验研究。MPE包括(1)仪表板,以识别没有钠-葡萄糖协同转运蛋白2抑制剂(SGLT2i)处方和没有肾素-血管紧张素-醛固酮系统抑制剂(RAASi)最大剂量处方的患者,(2)多学科专家团队使用电子咨询模板提供建议,和(3)向PCP提供及时的电子咨询建议的工作流程。与PCP和专家进行了深入访谈,以评估可行性,可接受性,和MPE的适当性,并使用迭代定性分析方法进行分析,以确定主要主题。从电子健康记录中提取处方数据,以评估增加GDMT的初步有效性。
    结果:20个PCP同意参与,18名PCP为其中一名患有T2D和CKD的患者接受了MPE,16名PCP和2名专家接受了采访。主要主题如下:T2D和CKD的GDMT优先次序的适当性,建议内容的可接受性,PCP特性影响MPE的经验,多学科合作的可接受性和适当性,MPE克服GDMT患者特异性障碍的可行性,和工作流程的适当性。基线后6个月,7/18(39%)患者新开SGLT2i处方,和7/18(39%)患者是新处方或增加RAASi剂量.
    结论:MPE是一种可接受且适当的卫生系统策略,可用于识别和解决T2D和CKD患者中GDMT的差距。采用MPE可以增强GDMT,尽管PCP提出了可行性问题,这些问题可以通过程序增强来改善,包括后续的增援电子咨询,以及对导航系统级障碍的行政支持。
    BACKGROUND: We hypothesized that multidisciplinary, proactive electronic consultation (MPE) could overcome barriers to prescribing guideline-directed medical therapies (GDMTs) for patients with type 2 diabetes (T2D) and chronic kidney disease (CKD).
    METHODS: We conducted an efficacy-implementation pilot study of MPE for T2D and CKD for primary care provider (PCP)-patient dyads at an academic health system. MPE included (1) a dashboard to identify patients without a prescription for sodium-glucose cotransporter-2 inhibitors (SGLT2i) and without a maximum dose prescription for renin-angiotensin-aldosterone system inhibitors (RAASi), (2) a multidisciplinary team of specialists to provide recommendations using e-consult templates, and (3) a workflow to deliver timely e-consult recommendations to PCPs. In-depth interviews were conducted with PCPs and specialists to assess feasibility, acceptability, and appropriateness of MPE and were analyzed using an iterative qualitative analysis approach to identify major themes. Prescription data were extracted from the electronic health record to assess preliminary effectiveness to increase GDMT.
    RESULTS: 20 PCPs agreed to participate, 18 PCPs received MPEs for one of their patients with T2D and CKD, and 16 PCPs and 2 specialists were interviewed. Major themes were as follows: appropriateness of prioritization of GDMT for T2D and CKD, acceptability of the content of the recommendations, PCP characteristics impact experience with MPE, acceptability and appropriateness of multidisciplinary collaboration, feasibility of MPE to overcome patient-specific barriers to GDMT, and appropriateness of workflow. At 6 months postbaseline, 7/18 (39%) patients were newly prescribed an SGLT2i, and 7/18 (39%) patients were either newly prescribed or had increased dose of RAASi.
    CONCLUSIONS: MPE was an acceptable and appropriate health system strategy to identify and address gaps in GDMT among patients with T2D and CKD. Adopting MPE could enhance GDMT, though PCPs raised feasibility concerns which could be improved with program enhancements, including follow-up e-consults for reinforcement, and administrative support for navigating system-level barriers.
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  • 文章类型: Journal Article
    背景:尽管有很大的生命限制疾病负担,巴基斯坦缺乏姑息治疗服务。由于社会经济差异,国际准则在巴基斯坦的适用性值得怀疑。我们制定了一份协议,描述了制定全面的姑息治疗指南和姑息治疗转诊途径的过程,以供巴基斯坦初级保健从业人员采用。
    方法:已采用带有修改的GRADE-ADOLOPMENT方法来为巴基斯坦背景创建指南。国家综合癌症网络指南见解:姑息治疗,版本2.2021“用作源指南。来源指南的建议由两名当地姑息治疗专家审查,\"\"适应\"或\"排除\"。最终确定的建议已纳入当地姑息治疗指南。根据最终的指南进行临床诊断和转诊途径。通过从其他可靠的准则中获取现有建议,填补了途径中发现的任何管理空白。
    结果:27项建议未经修改即被采纳。没有任何建议被认为是改编的,15项被排除在外。创建的转诊护理路径反映了当地指南,并包括初步评估的要素。初步管理,重新评估,和推荐。另外还提出了6项建议。
    结论:所描述的临床实践指南和初级保健临床转诊路径将有助于规范巴基斯坦的姑息治疗。这些可以由其他资源受限的设置使用,以在其自己的本地上下文中制定指南。
    BACKGROUND: Despite a large burden of life-limitingillness, there exists a dearth of services of palliative care in Pakistan. International guidelines have questionable applicability in Pakistan due to the socioeconomic differences. We generated a protocol describing the process of developing comprehensive palliative care guidelines and palliative care referral pathways for primary care practitioners to adopt in Pakistan.
    METHODS: A GRADE-ADOLOPMENT approach with modification has been employed to create guidelines for a Pakistani context. The \"National Comprehensive Cancer Network Guidelines Insights: Palliative Care, Version 2.2021\" was used as the source guideline. Recommendations from the source guideline were reviewed by two local palliative care specialists to either \"Adopt,\" \"Adapt\" or \"Exclude\". The finalized recommendations were incorporated into the local palliative care guideline. Clinical diagnosis and referral pathways were made from the finalized guideline. Any gaps in management found in the pathways were filled by taking existing recommendations from other credible guidelines.
    RESULTS: Twenty-seven recommendations were adopted without modification. No recommendations were deemed to be adapted and 15 were excluded. The referral care pathways created were reflective of the local guideline and included elements of initial assessment, preliminary management, reassessment, and referral. 6 additional recommendations were made.
    CONCLUSIONS: The described clinical practice guidelines and primary care clinical referral pathways will aid to standardize palliative care provision in Pakistan. These can be used by other resource constrained settings to develop guidelines within their own local context.
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  • 文章类型: Journal Article
    背景:2009年,国际生酮饮食研究小组发表了关于儿童接受生酮饮食(KD)治疗癫痫的建议。该文件包括一个表格,列出了癫痫综合症和KD特别有益的疾病,希望医生能更快地转介孩子去KD。
    目的:为了衡量这些2009年建议对转诊实践的影响,我们比较了建议前后10年在约翰霍普金斯医院(JHH)接受KD治疗的儿童.
    结果:总体而言,从推荐前小组到推荐后小组,提到符合适应症的KD的儿童有所增加,44%(112/256)到69%(175/255)(p<0.001),JHH神经科医师特别提到的频率更高(10/112,9%至58/175,33%)(p<0.01)。Glut-1缺乏症的转诊增加(0%至2.4%,p=0.015),德拉韦综合征(0%至6.7%,p<0.01),Rett综合征(0.4%至3%,p=0.018),和仅配方食品状态(16%至31%,p<0.01)。在几十年之间,所有转诊儿童的癫痫发作减少>50%的机会略有改善(56%至61%,p=0.30)。
    结论:遵循2009年的建议,我们的研究表明,在我们中心有适应症的儿童转诊人数有所增加.我们自己机构的神经学家转诊增加最多。生酮饮食功效随时间略有改善,但未达到显著性。
    BACKGROUND: In 2009, the International Ketogenic Diet Study Group published recommendations for children receiving ketogenic diet (KD) therapy for epilepsy. The document included a table listing epilepsy syndromes and conditions in which the KD has been particularly beneficial, hoping that physicians would refer children for the KD sooner.
    OBJECTIVE: To measure the impact of these 2009 recommendations on referral practice, we compared children initiated on the KD at Johns Hopkins Hospital (JHH) 10 years before and after the recommendations.
    RESULTS: Overall, children referred to the KD who met indications increased from the pre- to post-recommendation group, 44 % (112/256) to 69 % (175/255) (p < 0.001), with JHH neurologists specifically referring more frequently (10/112, 9 % to 58/175, 33 %) (p < 0.01). Referrals increased for Glut-1 deficiency (0 % to 2.4 %, p = 0.015), Dravet syndrome (0 % to 6.7 %, p < 0.01), Rett syndrome (0.4 % to 3 %, p = 0.018), and formula-fed only status (16 % to 31 %, p < 0.01). The chances of > 50 % seizure reduction for all children referred improved slightly between decades (56 % to 61 %, p = 0.30).
    CONCLUSIONS: Following the 2009 recommendations, our study shows there was an increase in referrals for children with indications at our center. Referrals from neurologists at our own institution increased the most. Ketogenic diet efficacy improved slightly over time but did not reach significance.
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  • 文章类型: Comparative Study
    植入前遗传测试(PGT)是一种生殖技术,可选择没有(家族性)遗传变异的胚胎。PGT已应用于遗传性心脏病,并被纳入最新的美国心脏协会/美国心脏病学会指南。然而,缺乏选择符合条件的夫妇的指南,这些夫妇将从PGT中降低风险最强。我们开发了一个客观的决策模型来选择PGT的资格,并将其结果与多学科团队的结果进行了比较。
    所有涉及国家PGT中心的遗传性心脏病夫妇都包括在内。多学科小组根据临床和遗传信息批准或拒绝了该适应症。我们基于已发布的风险预测模型和文献开发了一个决策模型,评估转诊患者心脏表型的严重程度和家族性变异的外显率。模型和多学科团队的结果以盲法进行了比较。
    83对夫妇被推荐参加PGT(1997-2022),包含8种不同遗传性心脏病(心肌病和心律失常)的19种不同基因。使用我们的模型和建议的截止值,76(92%)对夫妇达成了明确的决定,与95%的多学科团队决策保持一致。在一个11对夫妇的前瞻性队列中,我们显示了该模型在选择最符合PGT条件的夫妇方面的临床适用性.
    对遗传性心脏病的PGT请求数量迅速增加,没有具体的指导方针。我们提出了一个两步决策模型,可以帮助选择PGT后后代中心脏病风险降低最高的夫妇。
    UNASSIGNED: Preimplantation genetic testing (PGT) is a reproductive technology that selects embryos without (familial) genetic variants. PGT has been applied in inherited cardiac disease and is included in the latest American Heart Association/American College of Cardiology guidelines. However, guidelines selecting eligible couples who will have the strongest risk reduction most from PGT are lacking. We developed an objective decision model to select eligibility for PGT and compared its results with those from a multidisciplinary team.
    UNASSIGNED: All couples with an inherited cardiac disease referred to the national PGT center were included. A multidisciplinary team approved or rejected the indication based on clinical and genetic information. We developed a decision model based on published risk prediction models and literature, to evaluate the severity of the cardiac phenotype and the penetrance of the familial variant in referred patients. The outcomes of the model and the multidisciplinary team were compared in a blinded fashion.
    UNASSIGNED: Eighty-three couples were referred for PGT (1997-2022), comprising 19 different genes for 8 different inherited cardiac diseases (cardiomyopathies and arrhythmias). Using our model and proposed cutoff values, a definitive decision was reached for 76 (92%) couples, aligning with 95% of the multidisciplinary team decisions. In a prospective cohort of 11 couples, we showed the clinical applicability of the model to select couples most eligible for PGT.
    UNASSIGNED: The number of PGT requests for inherited cardiac diseases increases rapidly, without the availability of specific guidelines. We propose a 2-step decision model that helps select couples with the highest risk reduction for cardiac disease in their offspring after PGT.
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