Addressing the Missing Links in Cardiovascular Aging.

The aim of this manuscript is to provide a review of available options to enhance cardiovascular health and prevent cardiovascular disease (CVD) in the aging population using a systems-biology approach. These include the role of the gut microbiome, the early identification and removal of environmental toxins, and finally age related sex hormones and supplement replacement which all influence aging. Implementing such a comprehensive approach has the potential to facilitate earlier risk assessment, disease prevention, and even improve mortality. Further study in these areas will continue to advance our understanding and refine therapeutic interventions for a healthier cardiovascular aging process.

Does the duration of ambulatory consultations affect the quality of healthcare? A systematic review.

BACKGROUND: The objective is to examine and synthesise the best available experimental evidence about the effect of ambulatory consultation duration on quality of healthcare. METHODS: We included experimental studies manipulating the length of outpatient clinical encounters between adult patients and clinicians (ie, therapists, pharmacists, nurses, physicians) to determine their effect on quality of care (ie, effectiveness, efficiency, timeliness, safety, equity, patient-centredness and patient satisfaction). INFORMATION SOURCES: Using controlled vocabulary and keywords, without restriction by language or year of publication, we searched MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials and Database of Systematic Reviews and Scopus from inception until 15 May 2023. RISK OF BIAS: Cochrane Risk of Bias instrument. DATA SYNTHESIS: Narrative synthesis. RESULTS: 11 publications of 10 studies explored the relationship between encounter duration and quality. Most took place in the UK's general practice over two decades ago. Study findings based on very sparse and outdated evidence-which suggested that longer consultations improved indicators of patient-centred care, education about prevention and clinical referrals; and that consultation duration was inconsistently related to patient satisfaction and clinical outcomes-warrant low confidence due to limited protections against bias and indirect applicability to current practice. CONCLUSION: Experimental evidence for a minimal or optimal duration of an outpatient consultation is sparse and outdated. To develop evidence-based policies and practices about encounter length, randomised trials of different consultation lengths-in person and virtually, and with electronic health records-are needed. TRIAL REGISTRATION NUMBER: OSF Registration DOI:10.17605/OSF.IO/EUDK8.

Evaluación de la terapia de reproducción médicamente asistida en 9 años: estudio de cohorte retrospectivo / Medically assisted reproductive therapy assessment in 9 years: retrospective cohort study

OBJETIVO: Describir las tasas de recién nacidos vivos (RNV) y embarazo de la terapia de reproducción médicamente asistida de baja complejidad del Centro de Reproducción Humana de la Universidad de Valparaíso, Chile. MÉTODO: Estudio retrospectivo de todos los ciclos de estimulación ovárica controlada con inseminación intrauterina (IIU) completados, entre los años 2011 y 2019. Se evaluaron las características clínicas basales y los resultados en IIU homólogas y heterólogas según el ciclo inseminado, la causa de infertilidad, el rango etario y el índice de masa corporal (IMC). El desenlace principal fue la tasa de RNV por ciclo inseminado. RESULTADOS: Se estudiaron 1415 ciclos en 700 parejas. La tasa acumulativa de RNV fue del 19,6%, un 18,3% en IIU homóloga y un 39,0% en IIU heteróloga. La tasa de RNV fue del 10,0% al primer ciclo, del 5,8% al segundo ciclo y del 3,7% al tercer o más ciclos. Al separar por IIU heteróloga, esta aumenta al 24,4% al primer ciclo y al 14,6% al segundo ciclo. La tasa de RNV es significativamente mejor en pacientes menores de 35 años (23,7%) y con IMC < 29 (20,8%). CONCLUSIONES: El tratamiento de baja complejidad en pacientes infértiles es una opción terapéutica vigente con una aceptable tasa de RNV por ciclo inseminado. Los resultados están influenciados por la edad y por el IMC.

OBJECTIVE: To describe the rates of live newborns (LNB) and pregnancy of the low complexity therapy of the Centre for Human Reproduction of Universidad de Valparaíso, Chile. METHOD: Retrospective study of all cycles of controlled ovarian stimulation with intrauterine insemination (IUI) completed between 2011-2019. The baseline clinical characteristics and results in homologous and heterologous IUI were evaluated according to inseminated cycle, cause of infertility, age range and body mass index (BMI). The main outcome was rate of LNB per inseminated cycle. RESULTS: 1415 cycles were studied in 700 couples. The cumulative rate of LNB was 19.6%, 18.3% in homologous IUI and 39.0% in heterologous IUI. The LNB rate was 10.0% at the first cycle, 5.8% at the second cycle, 3.7% at the third or more cycles. When separating by heterologous IUI, it increases to 24.4% in the first cycle and 14.6% in the second cycle. The LNB rate is significantly better in patients under 35 years of age (23.7%) and with a BMI less than 29 (20.8%). CONCLUSIONS: Treatment of low complexity in selected infertile patients is a current therapeutic option with an acceptable rate of LNB per inseminated cycle. The results are influenced by age and BMI.

Effect of Shared Decision-Making for Stroke Prevention on Treatment Adherence and Safety Outcomes in Patients With Atrial Fibrillation: A Randomized Clinical Trial.

Background Guidelines promote shared decision-making (SDM) for anticoagulation in patients with atrial fibrillation. We recently showed that adding a within-encounter SDM tool to usual care (UC) increases patient involvement in decision-making and clinician satisfaction, without affecting encounter length. We aimed to estimate the extent to which use of an SDM tool changed adherence to the decided care plan and clinical safety end points. Methods and Results We conducted a multicenter, encounter-level, randomized trial assessing the efficacy of UC with versus without an SDM conversation tool for use during the clinical encounter (Anticoagulation Choice) in patients with nonvalvular atrial fibrillation considering starting or reviewing anticoagulation treatment. We conducted a chart and pharmacy review, blinded to randomization status, at 10 months after enrollment to assess primary adherence (proportion of patients who were prescribed an anticoagulant who filled their first prescription) and secondary adherence (estimated using the proportion of days for which treatment was supplied and filled for direct oral anticoagulant, and as time in therapeutic range for warfarin). We also noted any strokes, transient ischemic attacks, major bleeding, or deaths as safety end points. We enrolled 922 evaluable patient encounters (Anticoagulation Choice=463, and UC=459), of which 814 (88%) had pharmacy and clinical follow-up. We found no differences between arms in either primary adherence (78% of patients in the SDM arm filled their first prescription versus 81% in UC arm) or secondary adherence to anticoagulation (percentage days covered of the direct oral anticoagulant was 74.1% in SDM versus 71.6% in UC; time in therapeutic range for warfarin was 66.6% in SDM versus 64.4% in UC). Safety outcomes, mostly bleeds, occurred in 13% of participants in the SDM arm and 14% in the UC arm. Conclusions In this large, randomized trial comparing UC with a tool to promote SDM against UC alone, we found no significant differences between arms in primary or secondary adherence to anticoagulation or in clinical safety outcomes. Registration URL: https://www.clinicaltrials.gov; Unique identifier: clinicaltrials.gov. Identifier: NCT02905032.

Seroprevalence of Toxoplasma gondii in free-range pigs in northern Peru.

Toxoplasma gondii is an important foodborne pathogen worldwide, with undercooked meat as the main source of human transmission. In this study, we determined the seroprevalence of T. gondii in free-range pigs from two adjacent villages in the Tumbes region of northern Peru, El Tutumo and Nuevo Progreso. We randomly selected 100 pig serum samples collected during a prior study and processed these using Western Blot to detect IgG anti-T. gondii antibodies. Results indicated a prevalence of 32% (32/100) to T. gondii in pigs. Free-ranging pigs from northern Peru represent a substantial risk for transmission of T. gondii to humans.

Autism Detection in Children by Combined Use of Gaze Preference and the M-CHAT-R in a Resource-Scarce Setting.

Most children with autism spectrum disorder (ASD), in resource-limited settings (RLS), are diagnosed after the age of four. Our work confirmed and extended results of Pierce that eye tracking could discriminate between typically developing (TD) children and those with ASD. We demonstrated the initial 15 s was at least as discriminating as the entire video. We evaluated the GP-MCHAT-R, which combines the first 15 s of manually-coded gaze preference (GP) video with M-CHAT-R results on 73 TD children and 28 children with ASD, 36-99 months of age. The GP-MCHAT-R (AUC = 0.89 (95%CI: 0.82-0.95)), performed significantly better than the MCHAT-R (AUC = 0.78 (95%CI: 0.71-0.85)) and gaze preference (AUC = 0.76 (95%CI: 0.64-0.88)) alone. This tool may enable early screening for ASD in RLS.

Women's Values and Preferences Regarding Osteoporosis Treatments: A Systematic Review.

BACKGROUND: Several treatments are available to reduce the risk of fragility fractures associated with osteoporosis. The choice of treatment requires knowledge of patients' values and preferences. The aim of the present study was to summarize what is known about the values and preferences relevant to the management of osteoporosis in women. METHODS: We conducted a comprehensive search of several databases for studies reported in any language that had included women who had already started or were about to start any pharmacological therapy for osteoporosis. Pairs of reviewers independently selected the studies and extracted the data. The results were synthesized narratively. RESULTS: We included 26 studies reporting on 15,348 women (mean age, 66 years). The women considered the effectiveness and adverse events equally, followed by the convenience of taking the drug and its effect on daily routine (less frequent dosing was preferred, the oral route was preferred, and the injectable route was preferred over oral if given less frequently). The treatment cost and duration were less important factors for decision making. Fear of breast cancer and fear of resuming uterine bleeding were common reasons for not choosing estrogen therapy. Calcium and vitamin D were viewed as safe and natural. Across the studies, the preferences were not affected by age, previous drug exposure, or employment status. CONCLUSIONS: Women starting osteoporosis medications value effectiveness and side effects equally and prefer medications given less frequently. Injectable drugs appear acceptable if given less frequently. More research on patient values and preferences is needed to guide decision making in osteoporosis.

Developing a Conversation Aid to Support Shared Decision Making: Reflections on Designing Anticoagulation Choice.

Patient-centered care requires that treatments respond to the problematic situation of each patient in a manner that makes intellectual, emotional, and practical sense, an achievement that requires shared decision making (SDM). To implement SDM in practice, tools-sometimes called conversation aids or decision aids-are prepared by collating, curating, and presenting high-quality, comprehensive, and up-to-date evidence. Yet, the literature offers limited guidance for how to make evidence support SDM. Herein, we describe our approach and the challenges encountered during the development of Anticoagulation Choice, a conversation aid to help patients with atrial fibrillation and their clinicians jointly consider the risk of thromboembolic stroke and decide whether and how to respond to this risk with anticoagulation.

Conocimientos, percepciones y prácticas relacionadas a VIH/SIDA en adolescentes de un distrito de Lambayeque-Perú, 2015 / Knowledge, perceptions, and practices related to HIV/ AIDS in adolescents from a district in Lambayeque-Peru, 2015

Objetivo: Describir los conocimientos, percepciones y prácticas relacionadas a VIH/SIDA en adolescentes de un distrito de Lambayeque-Perú en el 2015. Materiales y métodos: Estudio transversal. Se encuestaron 677 alumnos de colegios públicos y privados seleccionados mediante muestreo polietápico por conglomerados mediante un cuestionario estructurado. Se exploró asociación entre variables sociodemográficas, el conocimiento y las prácticas. Resultados: Se encuestaron 353 mujeres (52,1%) y 324 hombres (47,9%); 37,4% fueron de tercero, 32,6% de cuarto y 29,9% de quinto; 61,3% fueron de colegios públicos y 38,7% de privados; 71,3% manifestaron que su conocimiento sobre VIH/SIDA era intermedio. La fuente de información más frecuente fueron las clases de colegio (68,09%); en conocimientos, las vías de contagio más reportadas fueron: relaciones sexuales con persona infectada (88,8%) y transfusión sanguínea (80,9%). En los públicos se halló mayor reporte de información por internet (p=0,019), que el contacto sexual con persona infectada (p=0,007) y las relaciones homosexuales aumentaban el riesgo de contagio (p=0,023). En los privados se halló mayor reporte de información por televisión (p=0,081) y que tener una sola pareja (p=0,013) y la abstinencia (p=0,004), disminuían el riesgo de contagio. Los hombres refirieron un mayor riesgo de contagio en relaciones sexuales con prostitutas y homosexuales (p=0,001) y (p=0,001), respectivamente. Conclusiones: Las clases de colegio y el internet son importantes fuente de información sobre VIH-SIDA. Los alumnos de colegios públicos tienen mayor conocimiento en los factores de riesgo y los de colegio privado mayor conocimiento en las formas de prevención del VIH-SIDA.

Objective: To describe knowledge, perceptions, and practices related to HIV / AIDS in adolescents from a district in Lambayeque during 2015. Materials and methods: This is a cross-sectional survey. We interviewed 677 students from public and private schools from Lambayeque, who were selected using a multi-stage complex cluster sampling. A structured questionnaire was administered. Associations between sociodemographic variables, knowledge and practices were explored. Results: Three hundred and fifty-three (52.14%) females and 324 (47.86%) males were interviewed. Thirty-seven (37.37%) were from third year in high school, 32.64% were from fourth year, and 29.99% were from fifth year. Nearly two thirds of all subjects (61.30%) were students from public schools; 483 (71.34%) declared their knowledge on HIV/AIDS was intermediate level. The most frequently reported information source was school classes (68.09%); with respect to knowledge, the infection routes most frequently reported were: sex with an infected person (88.77%) and blood transfusions (80.95%). Students from public schools declared their mostly used information source was the Web (p= 0.019), and they declared finding out that sexual contact with an infected person was a form of infection (p= 0.007) and that homosexual relationships increase the risk of infection (p= 0.023). Adolescents from private schools declared their most frequent information source was TV (p= 0.081), and they declared that having one sex partner (p= 0.013) and abstinence (p= 0.004) decreased the risk of HIV transmission. Males reported there is more risk for acquiring this infection thorough sex contact with prostitutes and homosexual men (p= 0.001 for both variables, respectively). Conclusions: School lectures and the Web are important information sources on HIV-AIDS. Public school adolescents have greater knowledge on risk factors, and those from private schools show better understanding on preventive measures against HIV-AIDS.

Shared decision-making in atrial fibrillation: navigating complex issues in partnership with the patient.

Atrial fibrillation (AF) is an important risk factor for stroke. Although anticoagulation is effective in mitigating this risk, many high-risk patients are not anticoagulated in routine practice. Furthermore, as many as 50% of those who are prescribed an anticoagulant stop treatment within a year. This under treatment may be due, in part, to difficulty in navigating difficult decisions about initiating potentially lifelong therapy with significant costs, potential risks, and impact on daily life. To address these challenges, the most recent American guidelines issued a class I recommendation to use shared decision-making (SDM) to individualize patients' antithrombotic care. The call by the major cardiovascular organizations for SDM is in an effort to improve quality of care by promoting decisions that reflect what is best for an individual patient based on their stroke and bleeding risks, as well as their comorbid conditions and socio-personal context. SDM is readily applicable to current cardiovascular practice, but ongoing work will be needed to determine whether brief, evidence-based, and patient-oriented tools are able to support thoughtful, patient-centered decision-making and, ultimately, improve the rates of appropriate treatment initiation and adherence.

Patients' knowledge about the outcomes of thyroid biopsy: a patient survey.

PURPOSE: Fine-needle aspiration biopsy of the thyroid is an increasingly common outpatient procedure. Patients are counseled about the indications and risks of this procedure and informed consent is obtained. We aimed to assess the extent to which patients acquired necessary knowledge during this process. METHODS: Survey study conducted in a thyroid nodule clinic at a referral center. Adult patients who had just undergone a thyroid biopsy were asked to complete a survey, including eight questions regarding the indications and potential outcomes of thyroid biopsy. The main outcome of the study was to assess the patients' knowledge based on the response to each individual survey question. RESULTS: Two-hundred and ninety-seven patients were eligible, of which 196 (66%) completed the survey: most were women (76%), had adequate reading health literacy (95%) and a mean age of 58 years. Although 86% of patients correctly identified evaluation for thyroid cancer as the main indication for their biopsy, 56% were not aware of the likelihood of this diagnosis. Almost all (>90%) of respondents knew that results could be benign or malignant; fewer were aware of non-diagnostic (71%) or indeterminate (68%) outcomes, or of the need for additional diagnostic testing after the biopsy (33%). CONCLUSIONS: After undergoing thyroid biopsy, a high proportion of well-educated patients remained unaware of their risk for thyroid cancer, potential outcomes, and downstream consequences of their biopsy. This quality gap raises the possibility that informed consent procedures that meet legal standards may leave patients undergoing thyroid biopsy paradoxically uninformed.

Shared decision making for stroke prevention in atrial fibrillation: study protocol for a randomized controlled trial.

BACKGROUND: Nonvalvular atrial fibrillation (AF) is a common ongoing health problem that places patients at risk of stroke. Whether and how a patient addresses this risk depends on each patient's goals, context, and values. Consequently, leading cardiovascular societies recommend using shared decision making (SDM) to individualize antithrombotic treatment in patients with AF. The aim of this study is to assess the extent to which the ANTICOAGULATION CHOICE conversation tool promotes high-quality SDM and influences anticoagulation uptake and adherence in patients with AF at risk of strokes. METHODS: This study protocol describes a multicenter, encounter-level, randomized trial to assess the effect of using the ANTICOAGULATION CHOICE conversation tool in the clinical encounter, compared to usual care. The participating centers include an academic hospital system, a suburban community group practice, and an urban safety net hospital, all in Minnesota, USA. Patients with ongoing nonvalvular AF at risk of strokes (CHA2DS2-VASc score ≥ 1 in men, or ≥ 2 in women) will be eligible for participation. We aim to include 999 patients and their clinicians. The primary outcome is the quality of SDM as perceived by participants, and as assessed by a post-encounter survey that ascertains (a) knowledge transfer, (b) concordance of the decision made, (c) quality of communication, and (d) satisfaction with the decision-making process. Recordings of encounters will be reviewed to assess the extent of patient involvement and how participants use the tool (fidelity). Anticoagulant use, choice of agent, and adherence will be drawn from patients' medical and pharmacy records. Strokes and bleeding events will be drawn from patient records. DISCUSSION: This study will provide a valid and precise measure of the effect of the ANTICOAGULATION CHOICE conversation tool on SDM quality and processes, and on the treatment choices and adherence to therapy among AF patients at risk of stroke. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02905032 . Registered on 9 September 2016.

Perspectives, Decision Making, and Final Mode of Delivery in Pregnant Women With a Previous C-Section in a General Hospital in Peru: Prospective Analysis.

Objective: Explore the perspectives, decision-making process, and final mode of delivery among pregnant women with a previous C-section (Cesarean section) in a general public sector hospital in Lima, Peru. Methods: A qualitative prospective study using semistructured interviews at two time points in the outpatient obstetrics and gynecology clinic of a public sector, university-affiliated reference hospital in Lima, Peru. Seventeen adult pregnant women with a prior C-section who were deemed by their attending obstetrician to be candidates for a trial of labor were interviewed. The first interview was between 37 and 38 weeks of pregnancy, and the second interview was 24 to 48 hours after delivery. MAIN OUTCOME MEASURES: Predelivery decision-making process and final mode of delivery. Results: Among the 17 participants, about half (9) of the participants stated that the physician explained that they had two approaches for delivery, a trial of labor after C-section (TOLAC) or elective repeated C-section (ERCD). Two women stated that their respective providers explained only one option, either an ERCD or TOLAC. However, 6 women did not receive any information from their providers about their delivery options. Of the 10 participants that decided TOLAC, 8 ended up having a C-section, and of the 7 patients that had planned an ERCD, 1 ended up having a vaginal delivery. Conclusion: Many participants affirmed that they made the decision about their approach of delivery. However, most of the participants that decided a TOLAC ended up having a C-section because of complications during the final weeks of pregnancy or during labor.

PCI Choice Decision Aid for Stable Coronary Artery Disease: A Randomized Trial.

BACKGROUND: Percutaneous coronary intervention (PCI) for stable coronary artery disease does not reduce the risk of death and myocardial infarction compared with optimal medical therapy (OMT), but many patients think otherwise. PCI Choice, a decision aid (DA), was designed for use during the clinical visit and includes information on quality of life and mortality outcomes for PCI with OMT versus OMT alone for stable coronary artery disease. METHODS AND RESULTS: We conducted a randomized trial to assess the impact of the PCI Choice DA compared with usual care when there is a choice between PCI and optimal medical therapy. Primary outcomes were patient knowledge and decisional conflict, and the secondary outcome was an objective measure of shared decision making. A total of 124 patients were eligible for final analysis. Knowledge was higher among patients receiving the DA compared with usual care (60% DA; 40% usual care; P=0.034), and patients felt more informed (P=0.043). Other measures of decisional quality were not improved, and engagement of the patient by the clinician in shared decision making did not change with use of the DA. There was evidence that clinicians used the DA as an educational tool. CONCLUSIONS: The PCI Choice DA improved patient knowledge but did not significantly impact decisional quality. Further work is needed to effectively address clinician knowledge gaps in shared decision-making skills, even in the context of carefully designed DAs. CLINICAL TRIAL REGISTRATION: URL: https://www.clinicaltrials.gov/. Unique identifier: NCT01771536.

Patient capacity and constraints in the experience of chronic disease: a qualitative systematic review and thematic synthesis.

BACKGROUND: Life and healthcare demand work from patients, more so from patients living with multimorbidity. Patients must respond by mobilizing available abilities and resources, their so-called capacity. We sought to summarize accounts of challenges that reduce patient capacity to access or use healthcare or to enact self-care while carrying out their lives. METHODS: We conducted a systematic review and synthesis of the qualitative literature published since 2000 identifying from MEDLINE, EMBASE, Psychinfo, and CINAHL and retrieving selected abstracts for full text assessment for inclusion. After assessing their methodological rigor, we coded their results using a thematic synthesis approach. RESULTS: The 110 reports selected, when synthesized, showed that patient capacity is an accomplishment of interaction with (1) the process of rewriting their biographies and making meaningful lives in the face of chronic condition(s); (2) the mobilization of resources; (3) healthcare and self-care tasks, particularly, the cognitive, emotional, and experiential results of accomplishing these tasks despite competing priorities; (4) their social networks; and (5) their environment, particularly when they encountered kindness or empathy about their condition and a feasible treatment plan. CONCLUSION: Patient capacity is a complex and dynamic construct that exceeds "resources" alone. Additional work needs to translate this emerging theory into useful practice for which we propose a clinical mnemonic (BREWS) and the ICAN Discussion Aid.

Shared decision making in senior medical students: results from a national survey.

PURPOSE: To explore perceptions and experiences of Peruvian medical students about observed, preferred, and feasible decision-making approaches. METHODS: We surveyed senior medical students from 19 teaching hospitals in 4 major cities in Peru. The self-administered questionnaire collected demographic information, current approach, exposure to role models for and training in shared decision making, and perceptions of the pertinence and feasibility of the different decision-making approaches in general as well as in challenging scenarios. RESULTS: A total of 327 senior medical students (51% female) were included. The mean age was 25 years. Among all respondents, 2% reported receiving both theoretical and practical training in shared decision making. While 46% of students identified their current decision-making approach as clinician-as-perfect-agent, 50% of students identified their teachers with the paternalistic approach. Remarkably, 53% of students thought shared decision making should be the preferred approach and 50% considered it feasible in Peru. Among the 10 challenging scenarios, shared decision making reached a plurality (40%) in only one scenario (terminally ill patients). CONCLUSION: Despite limited exposure and training, Peruvian medical students aspire to practice shared decision making but their current attitude reflects the less participatory approaches they see role modeled by their teachers.

The incremental benefit of functional imaging in pheochromocytoma/paraganglioma: a systematic review.

Computed tomography (CT) and magnetic resonance imaging (MRI) are the major imaging modalities used for the localization of catecholamine-producing tumors (pheochromocytoma and paraganglioma). Functional imaging (FI) offers an alternative approach to localize, evaluate, and stage these tumors. Our objective was to describe the additive benefit of FI studies for patients with pheochromocytoma and paraganglioma (PPG) who have undergone MRI or CT scan evaluation. We searched MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, and Scopus from database inception through June 2012 for studies that included patients with biochemically proven PPGs who underwent CT or MRI and additional FI for the localization of PPGs. We included 32 studies enrolling a total of 1,264 patients with a mean age of 43-years old. The studies were uncontrolled and evaluated six FI modalities. FI tests provided small additive value to CT/MRI, aiding in the localization of only 24/1,445 primary cases (1.4 %) and 28/805 metastatic cases (3.5 %). In metastatic cases, 6-[F-18]fluoro-L-dihydroxyphenylalanine (DOPA) and fluorodopamine-PET (FDA) were the FI tests most successful at identifying disease missed by CT/MRI, providing additional benefit in 6/60 (10 %) and 5/78 (6.4 %) cases, respectively. No clinically significant findings were observed in any of the predefined subgroups. No study evaluated the impact of FI on the completeness of surgical resection or other patient-important outcomes. Observational evidence suggests that FI tests have a limited additional role in patients with PPGs who have undergone CT/MRI evaluation. However, the role of FI tests in specific subgroups of patients with atypical presentations (metastatic, extra-adrenal) as well as the use of hybrid FI tests should be explored. Further research should also evaluate the impact of FI tests on patient-important outcomes.

Testing for germline mutations in sporadic pheochromocytoma/paraganglioma: a systematic review.

BACKGROUND: The presence of germline mutations in sporadic pheochromocytomas and paragangliomas (SPPs) may change the clinical management of both index patients and their family members. However, the frequency of germline mutations in SPPs is unknown. OBJECTIVE: To describe the frequency of germline mutations in SPPs and to determine the value of testing index patients and their family members for these mutations. METHODS: We searched databases through June 2012 for observational studies of patients with SPPs who underwent germline genetic testing. The criteria used to define sporadic tumours were (i) the absence of a family history of PCC/PG, (ii) the absence of syndromic features, (iii) the absence of bilateral disease and (iv) the absence of metastatic disease. RESULTS: We included 31 studies including 5031 patients (mean age 44). These patients received tests for any of these ten mutations: SDHAF2, RET, SDHD, SDHB, SDHC, VHL, TMEM127, MAX, Isocitrate Dehydrogenase Mutation (IDH) and NF1. The overall frequency of germline mutation in SPP was 551 of 5031 or 11%; when studies with patients fulfilling four criteria for sporadic tumours were used, the frequency was 171 of 1332 or 13%. The most common germline mutation was SDHB 167 of 3611 (4·6%). Little outcome data were available to assess the benefits of genetic testing in index cases and family members. CONCLUSIONS: The frequency of germline mutations in SPPs is approximately 11-13% and the most common mutations affect less than 1 in 20 patients. The value of testing for germline mutations in patients with SPPs and their family members is unknown, as the balance of potential benefits and harms remains unclear.