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1.
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
2.
Rupa Narayan MD Traci M. Blonquist MS Ashkan Emadi MD PhD Robert P. Hasserjian MD Meghan Burke BS Christopher Lescinskas BS Donna S. Neuberg ScD Andrew M. Brunner MD Gabriela Hobbs MD Hanno Hock MD PhD Steven L. McAfee MD Yi-Bin Chen MD Eyal Attar MD Timothy A. Graubert MD Christina Bertoli MSN Jenna A. Moran MSN Meghan K. Bergeron MSN Julia E. Foster MSN Aura Y. Ramos BSN Tina T. Som BSN Megan K. Vartanian BSN RN Jennifer L. Story LPN Kristin McGregor MS Molly Macrae BS Tanya Behnan BS Margaret C. Wey PhD Jessica Rae BSN Frederic I. Preffer PhD Patricia Lesho BA Vu H. Duong MD Mason L. Mann BA Karen K. Ballen MD Christine Connolly BS Philip C. Amrein MD Amir T. Fathi MD 《Cancer》2020,126(6):1264-1273
3.
Anne E. Kazak Fang Fang Chen Wei‐Ting Hwang Martha A. Askins Gabriela Vega E. Anders Kolb Anne Reilly Lamia P. Barakat 《Pediatric blood & cancer》2020,67(2)
Purpose: Family psychosocial risk in pediatric oncology can be assessed using the Psychosocial Assessment Tool (PAT), a brief parent report screener based on the Pediatric Psychosocial Preventative Health Model (PPPHM; universal, targeted, and clinical). However, little is known about risk over the course of treatment and its association with medical and psychosocial healthcare utilization. Methods: Primary caregivers of children with cancer participated in this prospective multisite investigation, completing the PAT at diagnosis (T1; n = 396) and 6 months later (T2; n = 304). Healthcare utilization data were extracted from electronic health records. Results: The distribution of PPPHM risk levels at T1 and T2 was highly consistent for the samples. Two‐thirds of families remained at the same level of risk, 18% decreased and 16% increased risk level. Risk was not related to sociodemographic or treatment variables. The PAT risk score correlated with psychosocial contacts over the 6‐month period. Conclusions: Although the majority of families reported universal (low) risk on the PAT and were stable in their risk level over 6 months, reassessing risk is helpful in identifying those families who report higher level of risk during treatment than at diagnosis. PAT scores were related to psychosocial services that are provided to most but not all families and could be tailored more specifically to match risk and delivery of evidence‐based care. 相似文献
4.
Toshiro Hara Rony Chanoch-Myers Nathan D. Mathewson Chad Myskiw Lyla Atta Lillian Bussema Stephen W. Eichhorn Alissa C. Greenwald Gabriela S. Kinker Christopher Rodman L. Nicolas Gonzalez Castro Hiroaki Wakimoto Orit Rozenblatt-Rosen Xiaowei Zhuang Jean Fan Tony Hunter Inder M. Verma Kai W. Wucherpfennig Itay Tirosh 《Cancer cell》2021,39(6):779-792.e11
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Isabel Ferr‐Eguiluz Gabriela Buccini Amber Hromi‐Fiedler Natalia Rovelo Teresita Gonzlez de Cosío Juan Ricardo Prez‐Escamilla‐Costas Juan Ricardo Prez‐Escamilla‐Gonzlez Rafael Prez‐Escamilla 《Maternal & child nutrition》2020,16(2)
Media can be a powerful communication tool to promote breastfeeding programs, influence mother's breastfeeding behaviour, and generate support among stakeholders for breastfeeding. Yet, there is little information on how media coverage influences a country's breastfeeding enabling environment. This study addressed this gap by conducting a retrospective content analysis of documents published between January 1, 2017 and January 1, 2018 to analyse the media coverage related to breastfeeding in Mexico. Content analysis was based on the breastfeeding gear model and a strategic planning technique to identify strengths, weaknesses, opportunities, and threats for enabling the national breastfeeding environment. Media coverage of breastfeeding was more frequent in August (36% of all documents). The top three topics commonly covered by the media were advocacy events promoting breastfeeding, promotion campaigns, and changes in breastfeeding legislation and policy. In general, the media coverage focused on strengths of specific breastfeeding policies. There was limited news coverage of key factors that negatively influenced or threatened the breastfeeding environment. Findings support the need to design strategies to engage the media covering in more depth and breadth diverse aspects of breastfeeding protection, promotion, and support efforts in Mexico. 相似文献
8.
James I. Geller MD Joseph G. Pressey MD Malcolm A. Smith MD Rachel A. Kudgus PhD Mariana Cajaiba MD Joel M. Reid PhD David Hall PhD Donald A. Barkauskas PhD Stephen D. Voss MD Steve Y. Cho MD Stacey L. Berg MD Jeffrey S. Dome MD PhD Elizabeth Fox MD Brenda J. Weigel MD 《Cancer》2020,126(24):5303-5310
9.
Gabriela Perdomo Coral Angelo Alves de Mattos 《Journal canadien de gastroenterologie》2003,17(3):187-190
BACKGROUND/AIMS: Spontaneous bacterial peritonitis (SBP) is an important complication in cirrhotic patients. The aim of the present study was to assess the incidence, predictive factors and prognosis for renal impairment (RI) after SBP in cirrhotic patients from southern Brazil. METHODS: Of the 1030 hospitalizations evaluated, 114 episodes of SBP were diagnosed in 94 patients (mean age 49 years; 76.59% men). SBP diagnosis was established when the ascitic fluid polymorphonuclear cell count was equal to or greater than 250 cells/mm3. Five cases were excluded. The variables assessed as possible predictors of steady or progressive RI were blood urea nitrogen and creatinine levels before the diagnosis of SBP; type of infection, antibiotic prophylaxis, first episode or recurrent SBP, presence of gastrointestinal bleeding and hepatic encephalopathy during hospitalization, SBP resolution, Child-Pugh classification, levels of blood pressure, ascitic fluid and blood polymorphonuclear cell count, bacteriological data (positive and negative ascitic fluid culture), albumin, bilirubin, sodium and prothrombin time at the moment of diagnosis. RESULTS: The incidence of SBP was 11.07%. In 61 (55.96%) episodes, SBP was associated with RI (transient in 57.37%; steady in 19.67%; and progressive in 22.95%). The mortality rate associated with progressive RI was 100%; 58.33% with steady RI; and 2.85% with transient RI. The mortality rate in patients with or without RI was 36.07% and 6.25%, respectively (P<0.001). The level of creatinine (greater than or equal to 1.3mg/dL) before the diagnosis of SBP and the rate of infection resolution were the only predictors of RI in the multivariate analysis. CONCLUSIONS: RI after SBP is a common complication, and indicates a poor prognosis for this infection. High levels of creatinine before infection and the rate of infection resolution are independent predictors of RI. 相似文献
10.
C Berg F Bender M Soukup A Geipel R Axt-Fliedner J Breuer U Herberg U Gembruch 《Ultrasound in obstetrics & gynecology》2006,28(7):882-889
OBJECTIVE: To evaluate the prenatal distribution, associated conditions and outcome of the different types of right aortic arch (RAA) detected in fetal life. METHODS: This was a retrospective review of all cases of RAA detected prenatally between 1998 and 2005 in two tertiary referral centers. RESULTS: In the study period 71 cases of RAA were detected; 26 (37%) had RAA with aberrant left subclavian artery, 23 (32%) had RAA with mirror-image branching, 20 (28%) had RAA of unknown type and two (3%) had double aortic arch. While 20/26 cases with RAA and aberrant left subclavian artery were isolated findings, all 23 cases with RAA and mirror-image branching were associated with cardiac defects, namely tetralogy of Fallot (43%) or pulmonary atresia with ventricular septal defect (22%). Of the 20 cases with RAA, 19 of unknown type were associated with heterotaxy syndromes and had additional cardiac malformations and ambiguities of the situs. The two cases with DAA were isolated findings. Seven cases in our series (10%) had a microdeletion 22q11 and these were significantly associated with extracardiac malformations. The outcome in our series depended solely on the associated cardiac and extracardiac malformations, with the exception of one infant with isolated DAA, in whom a surgical correction was warranted. CONCLUSIONS: RAA detected in fetal life is associated frequently with other cardiac/non-cardiac malformations, heterotaxy syndromes and microdeletions 22q11. The associated conditions vary depending on the branching type of the brachiocephalic vessels and the presence of extracardiac malformations. 相似文献