scholarly journals A Systematic Review on the Impact of Genetic Testing for Familial Melanoma I: Primary and Secondary Preventative Behaviours

Dermatology ◽  
2021 ◽  
pp. 1-10
Author(s):  
Clare A. Primiero ◽  
Tatiane Yanes ◽  
Anna Finnane ◽  
H. Peter Soyer ◽  
Aideen M. McInerney-Leo

<b><i>Background:</i></b> Increasing availability of panel testing for known high-penetrance familial melanoma genes has made it possible to improve risk awareness in those at greatest risk. Prior to wider implementation, the role of genetic testing in preventing melanoma, through influencing primary and secondary preventative behaviours, requires clarification. <b><i>Methods:</i></b> Database searches of PubMed, Embase, CINAHL, PsycINFO and the Cochrane Library were conducted for studies describing preventative behaviour outcomes in response to genetic testing for melanoma risk. Publications describing original research of any study type were screened for eligibility. <b><i>Results:</i></b> Eighteen publications describing 11 unique studies were reviewed. Outcomes assessed are based on health behaviour recommendations for those at increased risk: adherence to sun-protective behaviour (SPB); clinical skin examinations (CSE); skin self-examinations (SSE); and family discussion of risk. Overall, modest increases in adherence to primary prevention strategies of SPB were observed following genetic testing. Importantly, there were no net decreases in SPB found amongst non-carriers. For secondary preventative behaviour outcomes, including CSE and SSE, increases in post-test intentions and long-term adherence were reported across several subgroups in approximately half of the studies. While this increase reached significance in mutation carriers in some studies, one study reported a significant decline in annual CSE adherence of non-mutation carriers. <b><i>Conclusions:</i></b> Evidence reviewed suggests that genetic testing has a modestly positive impact on preventative behaviour in high-risk individuals. Furthermore, improvements are observed regardless of mutation carrier status, although greater adherence is found in carriers. While additional studies of more diverse cohorts would be needed to inform clinical recommendations, the findings are encouraging and suggest that genetic testing for melanoma has a positive impact on preventative behaviours.

Dermatology ◽  
2021 ◽  
pp. 1-11
Author(s):  
Clare A. Primiero ◽  
Tatiane Yanes ◽  
Anna Finnane ◽  
H. Peter Soyer ◽  
Aideen M. McInerney-Leo

<b><i>Background:</i></b> Although genetic testing for known familial melanoma genes is commercially available, clinical implementation has been restrained as utility is unclear, concerns of causing psychological distress are often cited, and consumer interest and perceptions are not well understood. A review of studies exploring participant-reported psychosocial outcomes and attitudes towards genetic testing for familial melanoma will provide insight into common emotional and cognitive responses. <b><i>Methods:</i></b> Database searches of PubMed, Embase, CINAHL, PsycINFO and the Cochrane Library were conducted using a date range of January 1995 to June 2020. Studies examining any psychosocial outcomes alongside genetic testing (real or hypothetical), in participants described as having a high risk of melanoma, were eligible. A narrative synthesis of results was used to describe psychosocial outcomes and summarise participant beliefs and attitudes towards genetic testing. <b><i>Results:</i></b> Limited evidence of adverse psychosocial outcomes was found. No impacts on perceived risk or control were reported, and minimal decisional regret was recorded. Generalised distress was comparable between both genetic mutation carriers and non-carriers, often decreasing over time from pretesting levels. Melanoma-specific distress was frequently higher in carriers than non-carriers; however, this difference was present prior to testing and often associated with personal melanoma history. Overall, participants’ attitudes towards testing were largely positive, with benefits more frequently described than limitations, and support for testing minors was strong. <b><i>Conclusions:</i></b> This review has found evidence of few adverse psychological outcomes following genetic testing. There was no indication of increased distress after genetic test results had been disclosed. If these findings were replicated in additional, larger, diverse populations over a longer follow-up period, this would be compelling evidence to guide clinical recommendations.


2013 ◽  
Vol 131 (5) ◽  
pp. 338-350 ◽  
Author(s):  
Juliana Kilesse Carvalho ◽  
Daniella Batalha Moore ◽  
Ricardo Alves Luz ◽  
Pedro Paulo Xavier-Elsas ◽  
Maria Ignez Capella Gaspar-Elsas

CONTEXT AND OBJECTIVE: Neonatal sepsis is associated with premature birth and maternal infection. Large-scale studies seek to define markers that identify neonates at risk of developing sepsis. Here, we examine whether the scientific evidence supports systematic use of polymorphism genotyping in cytokine and innate immunity genes, to identify neonates at increased risk of sepsis. DESIGN AND SETTING: Narrative literature review conducted at Fernandes Figueira Institute, Brazil. METHODS: The literature was searched in PubMed, Embase (Excerpta Medica Database), Lilacs (Literatura Latino-Americana e do Caribe em Ciências da Saúde), SciELO (Scientific Electronic Library Online) and Cochrane Library. From > 400,000 references, 548 were retrieved based on inclusion/exclusion criteria; 22 were selected for detailed analysis after quality assessment. RESULTS: The studies retrieved addressed the impact of gene polymorphisms relating to immune mechanisms (most often TNF-a, LT-a, IL-6, IL-1β, IL-1ra, L-selectin, CD14 and MBL) or inflammatory mechanisms (ACE and angiotensin II receptors; secretory PLA2; and hemostatic factors). Despite initial reports suggesting positive associations between specific polymorphisms and increased risk of sepsis, the accumulated evidence has not confirmed that any of them have predictive power to justify systematic genotyping. CONCLUSIONS: Sepsis prediction through systematic genotyping needs to be reevaluated, based on studies that demonstrate the functional impact of gene polymorphisms and epidemiological differences among ethnically distinct populations.


2018 ◽  
Vol 10 (4) ◽  
pp. 317-326 ◽  
Author(s):  
Poyrung Poysophon ◽  
Ashwin L. Rao

Context: Attention deficit hyperactivity disorder (ADHD) is a common childhood disorder and is frequently diagnosed in young adults. Emerging studies suggest a relationship between ADHD and concussion. Objective: To determine whether athletes with ADHD are at increased risk for neurocognitive deficits related to concussion risk, symptom reporting, and recovery. Data Sources: A comprehensive search of PubMed, CINAHL, PsychInfo, and Cochrane Library databases was performed. Studies conducted between 2006 and 2017 were reviewed, although only those between 2013 and 2017 met inclusion criteria. Study Selection: Studies that examined neurocognitive deficits in adolescent and young adult athletes aged 15 to 19 years who had ADHD and reported using notable neuropsychological evaluation tools were included. Study Design: Systematic review. Level of Evidence: Level 2. Results: A total of 17 studies met the inclusion criteria. The prevalence of ADHD in athletes varied between 4.2% and 8.1%. Overall, athletes with ADHD demonstrated lower scores on neurocognitive testing such as the ImPACT (Immediate Post-Concussion Assessment and Cognitive Test), increased risk for concussion, and increased symptom reporting. There was no evidence that treatment with stimulant medication changed these risks. Conclusion: ADHD is associated with increased neurocognitive deficits in athletes, although pathophysiology remains unclear. Evidence for stimulant treatment in athletes with ADHD continues to be sparse.


2020 ◽  
Vol 13 (5) ◽  
pp. 417-423 ◽  
Author(s):  
Akihiro Nomura ◽  
Connor A. Emdin ◽  
Hong Hee Won ◽  
Gina M. Peloso ◽  
Pradeep Natarajan ◽  
...  

Background: Familial sitosterolemia is a rare Mendelian disorder characterized by hyperabsorption and decreased biliary excretion of dietary sterols. Affected individuals typically have complete genetic deficiency—homozygous loss-of-function (LoF) variants—in the ABCG5 or ABCG8 genes and have substantially elevated plasma sitosterol and LDL (low-density lipoprotein) cholesterol (LDL-C) levels. The impact of partial genetic deficiency of ABCG5 or ABCG8 —as occurs in heterozygous carriers of LoF variants—on LDL-C and risk of coronary artery disease (CAD) has remained uncertain. Methods: We first recruited 9 sitosterolemia families, identified causative LoF variants in ABCG5 or ABCG8 , and evaluated the associations of these ABCG5 or ABCG8 LoF variants with plasma phytosterols and lipid levels. We next assessed for LoF variants in ABCG5 or ABCG8 in CAD cases (n=29 321) versus controls (n=357 326). We tested the association of rare LoF variants in ABCG5 or ABCG8 with blood lipids and risk for CAD. Rare LoF variants were defined as protein-truncating variants with minor allele frequency <0.1% in ABCG5 or ABCG8 . Results: In sitosterolemia families, 7 pedigrees harbored causative LoF variants in ABCG5 and 2 pedigrees in ABCG8 . Homozygous LoF variants in either ABCG5 or ABCG8 led to marked elevations in sitosterol and LDL-C. Of those sitosterolemia families, heterozygous carriers of ABCG5 LoF variants exhibited increased sitosterol and LDL-C levels compared with noncarriers. Within large-scale CAD case-control cohorts, prevalence of rare LoF variants in ABCG5 and in ABCG8 was ≈0.1% each. ABCG5 heterozygous LoF variant carriers had significantly elevated LDL-C levels (25 mg/dL [95% CI, 14–35]; P =1.1×10 −6 ) and were at 2-fold increased risk of CAD (odds ratio, 2.06 [95% CI, 1.27–3.35]; P =0.004). By contrast, ABCG8 heterozygous LoF carrier status was not associated with increased LDL-C or risk of CAD. Conclusions: Although familial sitosterolemia is traditionally considered as a recessive disorder, we observed that heterozygous carriers of an LoF variant in ABCG5 had significantly increased sitosterol and LDL-C levels and a 2-fold increase in risk of CAD.


2021 ◽  
Author(s):  
Rasha R Bayoumi ◽  
Jacky Boivin ◽  
Human M Fatemi ◽  
Lisa Hurt ◽  
Gamal I Serour ◽  
...  

Background: Well-established risk factors for fertility problems such as smoking have been included in fertility awareness efforts globally. However, these efforts neglect risks that women in low and middle-income countries (LMIC) face. Objective: To address this gap, we identified eight risk factors affecting women in LMIC and the aim of the current review was to estimate the impact of these risks on fertility. Methods: We conducted systematic reviews and where data was available meta-analyses. We searched Medline, Embase, Cochrane library, regional databases and key organizational websites (1946-June 2016, updated January 2018, latest update taking place in 2021). Two researchers screened and extracted data independently. We included all study designs that assessed exposure to risk in clinical or community-based samples and excluded studies without control groups. The outcome of interest was fertility problems (inability to achieve pregnancy or live birth and neonatal death). We calculated pooled effect estimates from reported effect sizes or raw data. We assessed study quality using the Newcastle-Ottawa Scale. We registered the review with PROSPERO, registration number CRD42016048497. Results: We identified 2,418 studies and included 61 (57 in meta-analyses). Results revealed a nine-fold increased risk of inability to become pregnant in genital tuberculosis (OR 8.91, CI 1.89-42.12) and almost threefold in HIV (OR 2.93, CI 1.95-4.42) and bacterial vaginosis (OR 2.81, CI 1.85-4.27). A twofold increased risk of tubal-factor infertility in Female Genital Mutilation/Cutting [Type II/III] (OR 2.06, CI 1.03-4.15) and increased post-natal mortality in consanguinity (stillbirth, OR 1.28, CI 1.04-1.57; neonatal death, OR 1.57, CI 1.22-2.02). Strength and limitations: Reliability of results was bolstered by a rigorous systematic review methodology that is replicable but limited by methodological shortcomings of the available primary studies and the small number of studies in each meta-analysis. Conclusions: The risk factors investigated appeared to impact the reproductive process through multiple biological, behavioural, and clinical pathways. Additionally, infection and pelvic inflammatory disease seemed to be common pathways for several risk factors. The complex multifactorial risk profile can be addressed by LMIC using a global health framework to determine which risk factors are significant to their populations and how to tackle them. The subsequent health promotion encompassing these relevant health indicators could translate into more prevention and effective early detection of fertility problems in LMIC. Finally, the findings of multifactorial risk reinforced the need to put fertility as an agenda in global health initiatives.


1970 ◽  
Vol 28 (2) ◽  
pp. 73-80
Author(s):  
Bishnupada Dhar ◽  
Kazi Jahangir Hossain ◽  
Subrata K Bhadra ◽  
Aleya Mowlah ◽  
Golam Mowlah

This was a prospective observational study conducted on374 pregnant women who remained in the study beginningfrom first trimester until gave birth to singleton newbornbabies selected from five maternity hospitals located atdifferent regions in the country over a period of thirtymonths from July 2002 to December 2004. Objectives ofthe study were: (1) To find out the incidence of IUGR in thehospital based study, (2) To observe the impact of prepregnancyweight and pregnancy weight gain on IUGR,(3) To select appropriate cut off points of pre-pregnancyweight and pregnancy weight gain to identify women at riskfor delivering IUGR babies and (4) To observe theassociation between socio-demographic factors andmaternal anthropometry.Twenty one percent women delivered IUGR babies. Motherswho gained <4 kg in second trimester and <5kg in thirdtrimester gave birth to significantly higher incidence ofIUGR babies (29.1% and 35.3% respectively) in comparisonto mothers gained e” 4 kg and e” 5 kg who gave birth to14.4% and 9.3% IUGR babies (p<.001) . Maternal weightfor height in the lower range of normalcy at early pregnancywas associated with an increased risk of IUGR whencompare to normal or over weight for height group ofmothers (30.6% vs. 9.5%; p=<.001). The study revealedthat combination of <90 percent of standard weight forheight and net weight gain per week <125gm have strongnegative influence on foetal growth (39.5% IUGR babies).On the contrary, combination of e” 110 percent of weightfor height and weekly weight gain of e” 150 gm havesignificant positive impact on foetal growth (6.7% IUGR) .For total weight gain, best cut off point for identifying riskwomen of delivering IUGR babies was recommended 8.5kg and that for prepregnancy or first trimester weight was47.5 kg.Key words: Low birth weight; intrauterine growthretardation; AnthropometryDOI: 10.3329/jbcps.v28i2.5366J Bangladesh Coll Phys Surg 2010; 28: 73-80


2022 ◽  
Vol 11 ◽  
Author(s):  
Jiaxin Li ◽  
Ziqi Jia ◽  
Menglu Zhang ◽  
Gang Liu ◽  
Zeyu Xing ◽  
...  

BackgroundBRCA1/2 mutation carriers are suggested with regular breast cancer surveillance screening strategies using mammography with supplementary MRI as an adjunct tool in Western countries. From a cost-effectiveness perspective, however, the benefits of screening modalities remain controversial among different mutated genes and screening schedules.MethodsWe searched the MEDLINE/PubMed, Embase, Cochrane Library, Scopus, and Web of Science databases to collect and compare the results of different cost-effectiveness analyses. A simulated model was used to predict the impact of screening strategies in the target group on cost, life-year gained, quality-adjusted life years, and incremental cost-effectiveness ratio (ICER).ResultsNine cost-effectiveness studies were included. Combined mammography and MRI strategy is cost-effective in BRCA1 mutation carriers for the middle-aged group (age 35 to 54). BRCA2 mutation carriers are less likely to benefit from adjunct MRI screening, which implies that mammography alone would be sufficient from a cost-effectiveness perspective, regardless of dense breast cancer.ConclusionsPrecision screening strategies among BRCA1/2 mutation carriers should be conducted according to the acceptable ICER, i.e., a combination of mammography and MRI for BRCA1 mutation carriers and mammography alone for BRCA2 mutation carriers.Systematic Review RegistrationPROSPERO, identifier CRD42020205471.


2019 ◽  
Vol 34 (2) ◽  
pp. 119-130 ◽  
Author(s):  
Maxine P. Bonham ◽  
Elleni Kaias ◽  
Iona Zimberg ◽  
Gloria K. W. Leung ◽  
Rochelle Davis ◽  
...  

Eating at night time, as is frequent in shift workers, may contribute to increased cardiovascular disease (CVD) risk through a disruption in usual lipid metabolism, resulting in repeated and sustained hyperlipidemia at night. This systematic review aimed to investigate the impact of eating a meal at night compared with the same meal eaten during the day on postprandial lipemia. Six databases were searched: CINAHL Plus, Cochrane Library, EMBASE, Ovid MEDLINE, Informit, and SCOPUS. Eligible studies were original research cross-over design with a minimum fasting period of 5 h before testing preceded by a standardized control meal; measured postprandial triacylglycerol (TAG) for 5 h or greater; had meal time between 0700 h and 1600 h for day time and between 2000 h and 0400 h for night time; and had within-study test meals (food or drink) that were identical in macronutrient composition and energy. Two authors independently completed eligibility and quality assessment using the American Dietetic Association Quality Criteria Checklist for Primary Research. After removing duplicates, 4,423 articles were screened, yielding 5 studies for qualitative synthesis. All studies identified at least one parameter of the postprandial TAG response that was different as a result of meal time (e.g., the total concentration or the time course kinetics). Two studies reported a greater total TAG concentration (area under curve) at night compared with day, and 3 studies found no difference. Four studies reported that the kinetics of the postprandial time course of TAGs was different at night compared with during the day. Inconsistent reporting in the primary studies was a limitation of the review. Night eating may negatively affect postprandial lipemia and this review shows there is a need to rigorously test this using standardized methods and analysis with larger sample sizes. This is critical for informing strategies to lower CVD risk for shift workers.


2020 ◽  
Vol 33 (Supplement_1) ◽  
Author(s):  
P Prasad ◽  
K Hardy ◽  
J Chmelo ◽  
M Navidi ◽  
A Phillips

Abstract   Esophagectomy is a complex procedure with associated high levels of morbidity. Rehabilitation programmes are being developed and increasingly utilised in the perioperative period and comprise a variety of physical, nutritional and psychological interventions. Such strategies may help reduce the incidence of postoperative complications, mitigate sarcopenia, prevent progressive frailty and restore quality of life. This systematic review aimed to identify and analyse studies reporting outcomes of post-esophagectomy rehabilitative interventions. Methods Major reference databases (PubMed, Medline, EMBASE, Cochrane Library and Google scholar) were interrogated and a systematic search with a pre-defined search strategy was performed up until January 2020. All eligible articles were screened in line with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Study quality was assessed using the MINORS (Methodological Index for Non-Randomized Studies) criteria for cohort studies and the Cochrane risk of bias tool for randomised studies. Results Three studies (n = 1 pilot study; n = 1 feasibility study and n = 1 randomised controlled trial) including some 108 patients were included in this narrative review, of whom 64 patients had undergone esophagectomy. Rehabilitative strategies utilised included a combination of physical activities such as walking and low- to moderate-intensity exercises, dietary counselling, psychological support and occupational therapy input. There was wide variation in the outcomes assessed between studies. Postoperative physical activity with exercises consistently demonstrated maximum positive impact upon cardiopulmonary fitness. The median MINORS score for included studies was 9 (8-10) and the risk of bias in the included randomised trial was low. Conclusion There is a paucity of data currently to help determine the impact that rehabilitation may have on clinical outcomes and quality of life following esophagectomy. While improved physical function has been demonstrated, there is a need to determine which interventions patients deem most important and acceptable to help them return to as close to baseline as possible. Additionally, there is a need to further understand the impact rehabilitation may have upon long-term outcomes.


Author(s):  
Min-A Kim ◽  
Young-Han Kim ◽  
Jaeyoung Chun ◽  
Hye Sun Lee ◽  
Soo Jung Park ◽  
...  

Abstract Background & Aims Robust evidence regarding the impact of disease activity on pregnancy outcomes in women with IBD is crucial for both clinicians and patients in preparing a birth plan. We sought to perform a systematic review and meta-analysis to assess the pooled influences of disease activity on pregnancy outcomes in women with IBD. Methods We searched MEDLINE, EMBASE, and COCHRANE library to identify articles comparing pregnancy outcomes between active and inactive IBD at the time of conception or during pregnancy. A meta-analysis was performed using a random-effects model to pool estimates and report odds ratios (ORs). Results A total of 28 studies were identified as eligible for the meta-analysis. In women with active IBD, the pooled ORs for low birth weight (LBW), preterm birth, small for gestational age (SGA), spontaneous abortion, and stillbirths were 3.81 (95% confidence interval [CI] 1.81-8.02), 2.42 (95% CI 1.74-3.35), 1.48 (95% CI 1.19-1.85), 1.87 (95% CI 1.17-3.0), and 2.27 (95% CI 1.03-5.04) compared to women with inactive IBD, respectively. In the subgroup analysis based on disease type, women with active ulcerative colitis had an increased risk of LBW, preterm birth, and spontaneous abortion. Women with active Crohn’s disease had a higher risk of preterm birth, SGA, and spontaneous abortion. Conclusions Active IBD during the periconception period and pregnancy is associated with increased risk of adverse pregnancy outcomes. Our data suggest that pregnancy should be planned when the disease is quiescent, and continuous disease control is important even during pregnancy.


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