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Karl Johnson Katherine W. Saylor Isabella Guynn Karen Hicklin Jonathan S. Berg Kristen Hassmiller Lich 《Genetics in medicine》2022,24(2):262-288
PurposeUnderstanding the value of genetic screening and testing for monogenic disorders requires high-quality, methodologically robust economic evaluations. This systematic review sought to assess the methodological quality among such studies and examined opportunities for improvement.MethodsWe searched PubMed, Cochrane, Embase, and Web of Science for economic evaluations of genetic screening/testing (2013-2019). Methodological rigor and adherence to best practices were systematically assessed using the British Medical Journal checklist.ResultsAcross the 47 identified studies, there were substantial variations in modeling approaches, reporting detail, and sophistication. Models ranged from simple decision trees to individual-level microsimulations that compared between 2 and >20 alternative interventions. Many studies failed to report sufficient detail to enable replication or did not justify modeling assumptions, especially for costing methods and utility values. Meta-analyses, systematic reviews, or calibration were rarely used to derive parameter estimates. Nearly all studies conducted some sensitivity analysis, and more sophisticated studies implemented probabilistic sensitivity/uncertainty analysis, threshold analysis, and value of information analysis.ConclusionWe describe a heterogeneous body of work and present recommendations and exemplar studies across the methodological domains of (1) perspective, scope, and parameter selection; (2) use of uncertainty/sensitivity analyses; and (3) reporting transparency for improvement in the economic evaluation of genetic screening/testing. 相似文献
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《The Journal for Nurse Practitioners》2022,18(2):164-167
Acute diarrhea is a condition of increased water stool content, stool volume, and number of bowel movements that lasts less than 14 days. Mild diarrhea is usually self-limiting; however, undertreated moderate to severe diarrhea may cause severe dehydration and lead to hypovolemic shock. In order to prevent severe dehydration and treat patients appropriately, it is crucial for health care providers to determine the right diagnosis of patients with acute diarrhea. This article focuses on pathophysiology, general patient presentation, diagnostic tests and differential diagnosis lists of acute diarrhea to discuss which diagnosis should be made based on patient presentation and objective data. 相似文献
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儿童处于生长发育特殊阶段,其颌面部解剖结构、牙列情况及心理状态与成年人有明显区别。颌面部骨折患儿常出现面部发育畸形、张口受限、咬合关系紊乱等,严重影响患儿的日常生活。因此,儿童颌面部骨折的诊疗一直是临床上的难题,也是国内外的研究热点。颌面部骨折好发于青少年,损伤原因多为意外跌倒、交通伤及运动伤。近年来,数字化外科技术为儿童颌面部骨折提供精确的诊断及微创的治疗。国内外学者对于儿童颌面部骨折治疗理念逐渐倾向于手术治疗,选择可吸收材料对儿童颌面部骨折进行固定,降低对儿童面部发育的影响。长期随访对于儿童颌面部骨折患儿具有重要意义,有助于监测患儿面部发育情况。此外,临床医生应注意患儿的心理状态。对于创伤较重或发现有心理问题的患儿,应尽早干预治疗。文章就近年儿童颌面部骨折流行病学特点、诊断、治疗原则及伴发的心理问题做一综述。 相似文献
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目的:探讨环状RNA hsa_circ_0006867在结直肠癌中的表达及其与临床病理因素的关系。方法:全转录组测序筛选结直肠癌中特异circRNAs表达谱,挑选出差异表达显著的hsa_circ_0006867,qRT-PCR检测54例结直肠癌组织及癌旁组织中hsa_circ_0006867表达情况,分析其表达水平与结直肠癌临床病理特征的相关性,ROC曲线分析hsa_circ_0006867在结直肠癌中的诊断价值。结果:测序获得circRNAs在结直肠癌中的差异表达谱,qRT-PCR验证hsa_circ_0006867在结直肠癌中表达下调(P<0.05)。其表达水平与肿瘤分化程度和远处转移有关(P<0.05)。ROC曲线显示hsa_circ_0006867诊断结直肠癌AUC为0.851(95%CI:0.775~0.927),当截断值为0.0146时,敏感度为88.46%(95%CI:0.770~0.946),特异度为73.08%(95%CI:0.598~0.832),差异具有统计学意义(P<0.001)。结论:hsa_circ_0006867在结直肠癌中表达下调,与相关临床病理特征密切联系,可作为潜在结直肠癌临床诊断指标。 相似文献
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目的 运用标准化患者法评估四川农村地区基层医生不稳定型心绞痛和2型糖尿病两种慢性病诊断准确性现状,探讨基层医生两种慢性病诊断准确性的主要影响因素,为提升基层医生两种慢性病诊断准确性提供科学依据。方法 采用多阶段随机整群抽样方法,抽取四川省自贡市5个区/县50个乡镇100个村为研究现场,以调查当日在岗的全科及内科医生作为研究对象。共进行两轮数据采集,第1轮采集样本乡镇卫生院和村卫生室医生的基本信息;第1轮调查完成1个月后,运用标准化患者法开展第2轮调查,收集农村基层医生对不稳定型心绞痛和2型糖尿病诊断结果信息。运用Logistic回归分析农村基层医生不稳定型心绞痛和2型糖尿病诊断准确性的影响因素。结果 共纳入172名农村基层医生,完成186次标准化患者访问,正确诊断率为48.39%。其中不稳定型心绞痛的正确诊断率为18.68%(17/91),2型糖尿病的正确诊断率为76.84%(73/95)。Logistic回归分析显示,具有执业医师资质的农村基层医生更有可能做出正确诊断(OR=4.857,95%CI=1.076~21.933,P=0.040)。农村基层医生在诊断过程中涉及的必要问诊和检查条目越多,做出正确诊断的概率越高(OR=1.627,95%CI=1.065~2.485,P=0.024)。与不稳定型心绞痛相比,农村基层医生对2型糖尿病做出正确诊断的可能性更高(OR=6.306,95%CI=3.611~11.013,P<0.001)。结论 四川农村基层医生不稳定型心绞痛和2型糖尿病诊断准确性整体较差,建议以基层医生慢性病诊断过程质量改善为突破口,提升基层医生执业水平,进而提高慢性病诊断准确性。 相似文献
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《European journal of medical genetics》2022,65(6):104520
Microcephaly is a frequent feature of neurodevelopmental disorders (NDDs). Our study presents the heterogeneous spectrum of genetic disorders in patients with microcephaly either in isolated form or in association with other neurological and extra-neural abnormalities. We present data of 91 patients from 87 unrelated families referred to our clinic during 2016–2020 and provide a comprehensive clinical and genetic landscape in the studied cohort. Molecular diagnosis using exome sequencing was made in 45 families giving a yield of 51.7%. In 9 additional families probable causative variants were detected. We identified disease causing variations in 49 genes that are involved in different functional pathways Among these, 36 had an autosomal recessive pattern, 8 had an autosomal dominant pattern (all inherited de novo), and 5 had an X-linked pattern. In 41 probands where sequence variations in autosomal recessive genes were identified 31 were homozygotes (including 16 from non-consanguineous families). The study added 28 novel pathogenic/likely pathogenic variations. The study also calls attention to phenotypic variability and expansion in spectrum as well as uncovers genes where microcephaly is not reported previously or is a rare finding. We here report phenotypes associated with the genes for ultra-rare NDDs with microcephaly namely ATRIP, MINPP1, PNPLA8, AIMP2, ANKLE2, NCAPD2 and TRIT1. 相似文献
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《Medical Journal Armed Forces India》2022,78(1):17-23
Pulmonary thromboembolism (PTE) is an important cause of mortality/morbidity even today despite advancement in clinical understanding as well as diagnostic facilities. Clinical diagnosis of PTE is often challenging because of nonspecific sign/symptoms. Adherence to clinical decision-making protocols and appropriate use of diagnostic modalities like computed tomography pulmonary angiography can resolve the diagnostic dilemma in most cases and help in the overall management of PTE. This article deals with various concerns as well as controversies surrounding accurate diagnosis of PTE as on date. 相似文献