Integration and usability of a digital cancer risk stratification tool to optimize identification of patients at risk for hereditary cancers: A pilot study.

BACKGROUND: Patients with a personal or family history of cancer may have elevated risk of developing future cancers, which often remains unrecognized due to lapses in screening. This pilot study assessed the usability and clinical outcomes of a cancer risk stratification tool in a gynecologic oncology clinic. METHODS: New gynecologic oncology patients were prompted to complete a commercially developed personal and family history-based risk stratification tool to assess eligibility for genetic testing using National Comprehensive Cancer Network criteria and estimated lifetime breast cancer risk using the Tyrer-Cuzick model. After use of the risk stratification tool, usability was assessed via completion rate and the System Usability Scale, and health literacy was assessed using the BRIEF Health Literacy Screening Tool. RESULTS: 130 patients were prompted to complete the risk stratification tool; 93 (72%) completed the tool. Race and ethnicity and insurance type were not associated with tool completion. The median System Usability Scale score was 83 out of 100 (interquartile range, 60-95). Health literacy positively correlated with perceived usability. Public insurance and race or ethnicity other than non-Hispanic White was associated with lower perceived usability. Sixty (65%) patients met eligibility criteria for genetic testing, and 21 (38% of 56 eligible patients) were candidates for enhanced breast cancer screening based on an estimated lifetime breast cancer risk of ≥20%. CONCLUSIONS: A majority of patients completed the digital cancer risk stratification tool. Older age, lower health literacy, public insurance, and race or ethnicity other than non-Hispanic White were associated with lower perceived tool usability.

Building knowledge using a novel web-based intervention to promote HPV vaccination in a diverse, low-income population.

OBJECTIVES: HPV vaccination rates remain suboptimal despite proven efficacy. Data suggest misconceptions or lack of knowledge are leading barriers. Our study aimed to develop and pilot a novel interactive education resource designed to educate parents and patients about HPV vaccines. METHODS: This is a prospective pilot study conducted in an urban teaching hospital pediatric clinic. The Patient Activated Learning System (PALS) intervention included 3 web-based videos with HPV vaccine-related educational content. Participants were parents of adolescent patients, aged 11-17 years, and young adult patients, aged 18-26 years. Enrolled participants completed an HPV vaccine knowledge survey before and after watching PALS; paired scores were evaluated. Acceptability and participant-reported impact of PALS modules were measured via Likert-scale surveys. RESULTS: 132 individuals were approached; 101 (76%) enrolled and completed the study. Participants self-identified as Hispanic (50%), non-Hispanic Black (23%), non-Hispanic White (7%), Asian (6%), American/Alaskan/Hawaiian Native or Pacific Islander (5%). Half reported earning ≤$40,000 annually; 57% had only a high school education. Post-intervention knowledge scores were increased compared to baseline (9.87/27 points vs 17.53/27 points, p < 0.01). PALS modules were reported as enjoyable to use and understandable (89% and 93%, respectively), and improved participants' understanding of the importance of HPV vaccination (90%). Of the 18 patients unvaccinated at baseline, 39% received 1 shot of the HPV vaccine within one month. CONCLUSION: The PALS HPV vaccine educational intervention was feasible, acceptable, and improved knowledge among a diverse, underserved population. Our intervention may positively influence HPV vaccination rates, with potential to overcome HPV vaccine hesitancy.

Personalized survivorship care: Routine breast cancer risk assessment in the gynecologic oncology clinic.

INTRODUCTION: Gynecologic and breast cancers share several risk factors. Breast cancer risk assessment tools can identify those at elevated risk and allow for enhanced breast surveillance and chemoprevention, however such tools are underutilized. We aim to evaluate the use of routine breast cancer risk assessment in a gynecologic oncology clinic. METHODS: A patient-facing web-based tool was used to collect personal and family history and run four validated breast cancer risk assessment models (Tyrer-Cuzick (TC), Gail, BRCAPRO, and Claus) in a gynecologic oncology clinic. We evaluated completion of the tools and identification of patients at elevated risk for breast cancer using the four validated models. RESULTS: A total of 99 patients were included in this analysis. The BRCAPRO model had the highest completion rate (84.8%), followed by the TC model (74.7%), Gail model (74.7%), and the Claus model (52.1%). The TC model identified 21.6% of patients completing the model as having ≥20% lifetime risk of breast cancer, compared to 6.8% by the Gail model, and 0% for both the BRCAPRO and Claus models. The Gail model identified 52.5% of patients as having ≥1.67% 5-year risk of breast cancer. Among patients identified as high-risk for breast cancer and eligible for screening, 9/9 (100%) were referred to a high-risk breast clinic. CONCLUSION: Among patients that completed the TC breast cancer risk assessment in a gynecologic oncology clinic, approximately 1 in 5 were identified to be at significantly elevated lifetime risk for breast cancer. The gynecologic oncologist's office might offer a convenient and feasible setting to incorporate this risk assessment into routine patient care, as gynecologic oncologists often have long-term patient relationships and participate in survivorship care.

Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention.

BACKGROUND: Improved technologies paired with an increase in access to genetic testing have led to the availability of expanded carrier screening evaluating hundreds of disorders. Currently, most autosomal dominant mutations, such as BRCA1, are not included in expanded carrier assays. Screening pregnant or preconception reproductive-aged women for BRCA1 may present a unique opportunity to perform population-based screening for patients at a time when precancer screening, chemoprevention, and/or risk-reducing surgery may be beneficial. OBJECTIVE: This study aimed to inform clinical decision-making as to whether the universal incorporation of BRCA1 testing at the time of obstetrical prenatal carrier screening is cost-effective. STUDY DESIGN: A decision analysis and Markov model was created. The initial decision point in the model was BRCA1 testing at the time of expanded carrier screening. Model probabilities, cost, and utility values were derived from published literature. For BRCA1-positive patients, the model simulated breast cancer screening and risk-reducing surgical interventions. A cycle length of 1 year and a time horizon of 47 years were used to simulate the lifespan of patients. The setting was obstetrical clinics in the United States, and the participants were a theoretical cohort of 1,429,074 pregnant patients who annually underwent expanded carrier screening. RESULTS: Among our cohort, BRCA1 testing resulted in the identification of an additional 3716 BRCA1-positive patients, the prevention of 1394 breast and ovarian cancer cases, and 1084 fewer deaths. BRCA1 testing was a cost-effective strategy compared with no BRCA1 testing with an incremental cost-effectiveness ratio of $86,001 per quality-adjusted life years. In a 1-way sensitivity analysis, we varied the prevalence of BRCA1 in the population from 0.00% to 20.00% and found that BRCA1 testing continued to be the cost-effective strategy until the prevalence rate was reduced to 0.16%. Multiple additional sensitivity analyses did not substantially affect the cost-effectiveness. CONCLUSION: The addition of BRCA1 testing to obstetrical prenatal carrier screening is a cost-effective management strategy to identify at-risk women at a time when cancer screening and preventive strategies can be effective. Despite the burden of additional genetic counseling, prenatal care represents a unique opportunity to implement population-based genetic testing.

Delayed sleep wake phase disorder in adolescents: an updated review.

PURPOSE OF REVIEW: This review examines the most common circadian rhythm disorder in adolescents, delayed sleep phase disorder. It explores the etiology, prevalence, clinical features, diagnostic tools and criteria, and treatment options to identify sleep disorders early in the course. This is important to help improve youths in terms of education and quality of life. RECENT FINDINGS: Recent studies indicate that delayed sleep wake phase disorder has a range of prevalence between 1% and 16%. It is often associated with neurodevelopmental disorders (i.e. attention deficit hyperactivity disorder and autism spectrum disorder) as well as psychopathology (i.e. substance use, anxiety, and depression). It can present with a myriad of symptoms, such as insomnia, restless sleep, and poor daytime cognitive function, often seen in pediatric practice. Important diagnostic measures incorporate history-taking, sleep logs, actigraphy (i.e. Apple watches) and measurement of dim light melatonin onset. Treatments include improved sleep hygiene, chronotherapy, exogenous melatonin administration, and bright light therapy. SUMMARY: There are many environmental and genetic factors that can predispose an individual to circadian rhythm disorders. Delayed sleep phase disorder has detrimental effects on overall health, cognition, and behavior. It is important to screen for this disorder in routine pediatric clinic visits. The goal of early intervention is to prevent health and behavioral complications and treat adolescents using a multimodal approach, especially those with affective/neurodevelopmental conditions, who are prone to having delayed sleep wake phase disorder.

Multifunctional role of nanoparticles for the diagnosis and therapeutics of cardiovascular diseases.

The increasing burden of cardiovascular disease (CVD) remains responsible for morbidity and mortality worldwide; their effective diagnostic or treatment methods are of great interest to researchers. The use of NPs and nanocarriers in cardiology has drawn much interest. The present comprehensive review provides deep insights into the use of current and innovative approaches in CVD diagnostics to offer practical ways to utilize nanotechnological interventions and the critical elements in the CVD diagnosis, associated risk factors, and management strategies of patients with chronic CVDs. We proposed a decision tree-based solution by discussing the emerging applications of NPs for the higher number of rules to increase efficiency in treating CVDs. This review-based study explores the screening methods, tests, and toxicity to provide a unique way of creating a multi-parametric feature that includes cutting-edge techniques for identifying cardiovascular problems and their treatments. We discussed the benefits and drawbacks of various NPs in the context of cost, space, time and complexity that have been previously suggested in the literature for the diagnosis of CVDs risk factors. Also, we highlighted the advances in using NPs for targeted and improved drug delivery and discussed the evolution toward the nano-cardiovascular potential for medical science. Finally, we also examined the mixed-based diagnostic approaches crucial for treating cardiovascular disorders, broad applications and the potential future applications of nanotechnology in medical sciences.

Patient Experiences with a Multidisciplinary Fibroid Program.

STUDY OBJECTIVE: Although medical, interventional, and surgical treatment options for fibroids have expanded over the last decade, many patients are not thoroughly counseled about all available therapies. Patients desire a more comprehensive approach with shared decision-making tailored to their health goals. The aim of this study is to assess patient knowledge regarding treatment options before and after consultation with a multidisciplinary fibroid center. DESIGN: Prospective survey study. SETTING: Academic medical center in New York, NY. PATIENTS AND PARTICIPANTS: Patients who presented for initial consultation with a multidisciplinary fibroid program from July 2021 through January 2022. INTERVENTIONS: Patients were offered same-day office consultation with a minimally invasive gynecologic surgeon (MIGS) followed by a telemedicine visit with an interventional radiologist (IR) within 3 weeks of the appointment request. Collaborative discussions were held between providers regarding patient care. Patients were asked to complete the survey following both appointments. Data was collected regarding demographics, prior evaluation of fibroids, knowledge about treatment options, and overall experience. RESULTS: A total of 102 patients completed the survey (response rate 77%). A majority (55.9%) had known about their fibroids for at least 2 years. Most patients sought out the fibroid program for a 2nd (28.4%), 3rd (22.5%) or 4th (7.8%) opinion. Notably, 35.3% of patients who had previously been seen by an obstetrician-gynecologist (OB/GYN) were not offered any treatment. Of those who had been offered treatment, 24.5% were counseled on medical management with oral contraceptives, 28.4% on surgical options, and 5.9% on uterine artery embolization. Nearly all patients (86.3%) endorsed that they would not have sought 2 separate consultations had it not been for the program. Patients were overall well-informed after their experience, with 95.1% reporting they were more knowledgeable about their options and none reporting the 2 separate consults created more confusion for them. CONCLUSION: Many patients with symptomatic fibroids seeking secondary opinions have not been adequately counseled on fibroid management options. A collaborative approach to fibroid management better educates patients, provides an opportunity to be thoroughly counseled by the specialists performing either surgical or interventional procedures, and increases patient knowledge about fibroid treatment options.

A High-Performance, Low-Cost, and Integrated Hairpin Topology RF Switched Filter Bank for Radar Applications.

Switched filter banks find widespread application in frequency-hopping radar systems and communication networks with multiple operating frequencies, especially in situations demanding elevated filter element isolation. In this paper, the design and implementation of a highly isolated switchable narrow-bandpass filter bank architecture using hairpin microstrip topology is presented. The filter bank has four discrete bandpass filters with passbands of 2.0-2.2 GHz, 2.3-2.5 GHz, 3.1-3.3 GHz, and 3.9-4.1 GHz. These filters span the radar S-frequency band (2.0-4.0 GHz). In order to switch between channels with a switching speed of nanoseconds, low-loss and highly isolated SP4T switches are implemented. Advanced design system (ADS) software is used to design the various filter functionalities, and the entire system is tested on a vector network analyzer (VNA). The proposed architecture makes it much easier to put the filter bank into practice and switch it to the desired frequency, which is useful for radar receiver applications.

Serum Leptin levels in newly diagnosed Epileptic Patients.

Objectives: To compare leptin levels in newly-diagnosed treatment-naive epileptic patients and healthy controls. METHODS: This case-control study was conducted from January 10 to September 15, 2022, at the Dow University of Health Sciences, Karachi, and comprised newly-diagnosed epileptic patients age 12-35years who had no comorbidity. The subjects were enrolled from the Neurology out-patient department of Civil Hospital, Karachi. Healthy individuals matched for age, gender and body mass index were also enrolled as controls. Blood samples were collected between 8am and 10am for the evaluation of serum leptin levels using enzyme-linked immunosorbent assay. Data was analysed using SPSS 26. RESULTS: Of the 100 subjects, 64(64%) were males and 36(36%) were females. There were 50(50%) cases with mean age 19.34±5.65 years, and 50(50%) controls with mean age 19.76±5.67 (p=0.614). 100% of 50 individuals in control group did not have any family history of epilepsy,while 18% of cases (9) reported a positive family history. Mean leptin level in cases was 31.03±19.37 compared to 5.25±4.03 in the controls (p<0.05). CONCLUSIONS: Serum leptin levels were elevated in newly-diagnosed epileptic patients compared to healthy controls.

Patient perspectives on risk-reducing salpingectomy with delayed oophorectomy for ovarian cancer risk-reduction: A systematic review of the literature.

OBJECTIVE: Increasing evidence suggests the fallopian tube as the site of origin of BRCA1/2-associated high-grade ovarian cancers. Several ongoing trials are evaluating salpingectomy with delayed oophorectomy (RRSDO) for ovarian cancer risk reduction and patients are beginning to ask their clinicians about this surgical option. This study sought to systematically review the available literature examining patient preferences regarding RRSDO and risk-reducing salpingo-oophorectomy (RRSO) to provide clinicians with an understanding of patient values, concerns, and priorities surrounding ovarian cancer risk-reducing surgery. METHODS: We conducted a systematic review in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PROSPERO No.: CRD42023400690). We searched key electronic databases to identify studies evaluating acceptance and surgical decision-making regarding RRSO and RRSDO among patients with an increased risk of ovarian cancer. RESULTS: The search yielded 239 results, among which six publications met the systematic review inclusion criteria. Acceptance of RRSDO was evaluated in all studies and ranged from 34% to 71%. Factors positively impacting patients' acceptance of RRSDO included: avoidance of surgical menopause, preservation of fertility, concerns about sexual dysfunction, family history of breast cancer, and avoidance of hormone replacement therapy. Factors limiting this acceptance reported by patients included concerns regarding oncologic safety, surgical timing, and surgical complications. CONCLUSION: To date, few studies have explored patient perspectives surrounding RRSDO. Collectively, the limited data available indicate a high level of acceptance among BRCA1/2 carriers, and provides insight regarding both facilitating and limiting factors associated with patient preferences to better equip clinicians in the counseling and support of their patients.

Partner and localizer of BRCA2 (PALB2) pathogenic variants and ovarian cancer: A systematic review and meta-analysis.

OBJECTIVE: Approximately 20% of ovarian cancers are due to an underlying germline pathogenic variant. While pathogenic variants in several genes have been well-established in the development of hereditary ovarian cancer (e.g. BRCA1/2, RAD51C, RAD51D, BRIP1, mismatch repair genes), the role of partner and localizer of BRCA2 (PALB2) remains uncertain. We sought to utilize meta-analysis to evaluate the association between PALB2 germline pathogenic variants and ovarian cancer. METHODS: We conducted a systematic review and meta-analysis. We searched key electronic databases to identify studies evaluating multigene panel testing in people with ovarian cancer. Eligible trials were subjected to meta-analysis. RESULTS: Fifty-five studies met inclusion criteria, including 48,194 people with ovarian cancer and information available on germline PALB2 pathogenic variant status. Among people with ovarian cancer and available PALB2 sequencing data, 0.4% [95% CI 0.3-0.4] harbored a germline pathogenic variant in the PALB2 gene. The pooled odds ratio (OR) for carrying a PALB2 pathogenic variant among the ovarian cancer population of 20,474 individuals who underwent germline testing was 2.48 [95% CI 1.57-3.90] relative to 123,883 controls. CONCLUSIONS: Our meta-analysis demonstrates that the pooled OR for harboring a PALB2 germline pathogenic variant among people with ovarian cancer compared to the general population is 2.48 [95% CI 1.57-3.90]. Prospective studies evaluating the role of germline PALB2 pathogenic variants in the development of ovarian cancer are warranted.

Web-based tool for cancer family history collection: A prospective randomized controlled trial.

OBJECTIVES: Approximately 1% of individuals have a hereditary cancer predisposition syndrome, however, the majority are not aware. Collecting a cancer family history (CFH) can triage patients to receive genetic testing. To rigorously assess different methods of CFH collection, we compared a web-based tool (WBT) to usual care (clinician collects CFH) in a randomized controlled trial. METHODS: New gynecologic oncology patients (seen 9/2019-9/2021) were randomized to one of three arms in a 2:2:1 allocation ratio: 1) usual care clinician CFH collection, 2) WBT completed at home, or 3) WBT completed in office. The WBT generated a cancer-focused pedigree and scores on eight validated cancer risk models. The primary outcome was collection of an adequate CFH (based on established guidelines) with usual care versus the WBT. RESULTS: We enrolled 250 participants (usual care - 110; WBT home - 105; WBT office - 35 [closed early due to COVID-19]). Within WBT arms, 109 (78%) participants completed the tool, with higher completion for office versus home (33 [94%] vs. 76 [72%], P = 0.008). Among participants completing the WBT, 63 (58%) had an adequate CFH versus 5 (5%) for usual care (P < 0.001). Participants completing the WBT were significantly more likely to complete genetic counseling (34 [31%] vs. 15 [14%], P = 0.002) and genetic testing (20 [18%] vs. 9 [8%], P = 0.029). Participant and provider WBT experience was favorable. CONCLUSIONS: WBTs for CFH collection are a promising application of health information technology, resulting in more comprehensive CFH and a significantly greater percentage of participants completing genetic counseling and testing.

Something to consider: rapid palatal expansion for treatment of obstructive sleep apnea in pediatric patients.

PURPOSE OF REVIEW: This review examines the potential of rapid palatal expansion (RPE) as a treatment for pediatric obstructive sleep apnea (OSA). The focus is on recent findings related to its efficacy, safety, patient selection, timing, appliance options, cost considerations, and long-term outcomes. RECENT FINDINGS: Recent studies indicate that RPE can lead to significant improvements in pediatric OSA, with a 70% reduction in the Apnea Hypopnea Index (AHI) and increased oxygen saturation levels. It has been particularly effective in children with small or absent tonsils and has been found to reduce adenoid and tonsil size. Long-term follow-up studies suggest the need for ongoing monitoring, as some patients may experience relapse over time. SUMMARY: RPE shows promise as an additional treatment for pediatric obstructive sleep apnea. It offers improvements in respiratory function and reduced symptoms in certain patients. However, long-term efficacy and safety require further investigation. Comparative studies and patient-reported outcomes are necessary to optimize treatment approaches. Collaboration between orthodontists, sleep specialists, and ear-nose-throat (ENT) specialists may be essential for optimal outcomes in pediatric OSA patients treated with RPE.

Bacterial metabolic engineering for the production of second-generation (2 G) bioethanol and biobutanol; a review.

The second generation (2 G) biofuels were introduced to solve the issues associated with first-generation biofuel (dependency on food materials) and fossil fuels, such as reservoirs diminution, high demand, price fluctuation, and lethal greenhouse gases emission. Butanol and ethanol are the main 2 G biofuels. They are used as a disinfectant, antiseptic, and chemical solvent in the pharmaceutical, plastic, textiles, cosmetics, and fuel industries. Currently, their bacterial biological production from lignocellulosic material at the industrial level with primitive microorganisms is under development and not economical and qualitative compatible as compared to that of fossil origin, due to the slow growth rate, low titer, recalcitrant nature of lignocellulose, strain intolerance to a higher amount of butanol and ethanol, and strain inability to tolerate inhibitors accumulated during pretreatment of lignocellulosic materials. Therefore, metabolic engineering strategies such as redirection of carbon flux, knocking out competing pathways, enhancing strain robustness and wide range of substrate utilization ability, and overexpression of enzymes involved in their biological synthesis have been applied to bacteria for enhancing their ability for 2 G ethanol and butanol production in a highly cost-effective amount from lignocellulosic materials. Herein, we summarized and reviewed the progress in metabolic engineering of bacterial species such as Clostridium spp,Escherichia coli, and Zymomonas mobilis for the synthesis of 2 G butanol and ethanol, especially from lignocellulosic materials.

The bioengineered and multifunctional nanoparticles in pancreatic cancer therapy: Bioresponisive nanostructures, phototherapy and targeted drug delivery.

The multidisciplinary approaches in treatment of cancer appear to be essential in term of bringing benefits of several disciplines and their coordination in tumor elimination. Because of the biological and malignant features of cancer cells, they have ability of developing resistance to conventional therapies such as chemo- and radio-therapy. Pancreatic cancer (PC) is a malignant disease of gastrointestinal tract in which chemotherapy and radiotherapy are main tools in its treatment, and recently, nanocarriers have been emerged as promising structures in its therapy. The bioresponsive nanocarriers are able to respond to pH and redox, among others, in targeted delivery of cargo for specific treatment of PC. The loading drugs on the nanoparticles that can be synthetic or natural compounds, can help in more reduction in progression of PC through enhancing their intracellular accumulation in cancer cells. The encapsulation of genes in the nanoparticles can protect against degradation and promotes intracellular accumulation in tumor suppression. A new kind of therapy for cancer is phototherapy in which nanoparticles can stimulate both photothermal therapy and photodynamic therapy through hyperthermia and ROS overgeneration to trigger cell death in PC. Therefore, synergistic therapy of phototherapy with chemotherapy is performed in accelerating tumor suppression. One of the important functions of nanotechnology is selective targeting of PC cells in reducing side effects on normal cells. The nanostructures are capable of being surface functionalized with aptamers, proteins and antibodies to specifically target PC cells in suppressing their progression. Therefore, a specific therapy for PC is provided and future implications for diagnosis of PC is suggested.

Synthesis of Transition-Metal-Doped Nanocatalysts with Antibacterial Capabilities Using a Complementary Green Method.

A facile single-step wet chemical synthesis of a transition-metal-doped molybdate derivative was achieved via an Ocimum tenuiflorum extract-mediated green approach. The Synthesized nanomaterials of doped molybdate were characterized by optical and other spectroscopic techniques, which confirmed the size of nanocrystalline (~27.3 nm). The thermal stability of the nanomaterials confirmed through thermogravimetric analysis showed similarity with nanomaterials of Mn-ZnMoO4. Moreover, the nanoparticles displayed a non-toxic nature and showed antibactericidal activity. The impact of doping was reflected in band gap measurements; undoped ZnMoO4 showed relatively lower band gap in comparison to Mn-doped ZnMoO4. In the presence of light, ZnMoO4 nanomaterials a exhibited photocatalytic response to solochrome dark blue dye with a concentration of 50 ppm. OH- and O2*- radicals also destroyed the blue color of the dye within 2 min and showed potential antibactericidal activity towards both Gram-positive and Gram-negative bacteria, representing a unique application of the green-synthesized nanocatalyst.

What happens in the long term: Uptake of cancer surveillance and prevention strategies among at-risk relatives with pathogenic variants detected via cascade testing.

BACKGROUND: Cascade genetic testing for hereditary cancer syndromes offers affected relatives the opportunity to pursue cancer screening and risk-reducing surgery and thus reduces morbidity and mortality. The purpose of this study was to measure the long-term utilization of targeted cancer prevention and quality of life among at-risk relatives offered clinician-facilitated cascade genetic testing. METHODS: In a pilot study, at-risk relatives of patients with a hereditary cancer syndrome were contacted directly by the clinical team and offered telephone genetic counseling and genetic testing via an at-home, mailed saliva kit. Two-year follow-up results evaluating the use of targeted cancer prevention strategies and the quality of life for enrolled relatives were reported. Quality-of-life was measured with validated surveys, and scores were compared to the time of initial contact by the Wilcoxon signed-rank test. RESULTS: Ninety-five at-risk relatives were enrolled in the initial pilot study, and 72 (76%) participated in the 2-year follow-up; 57 of these (79%) had completed genetic testing. Twenty-five of those 57 relatives (44%) were found to harbor an inherited pathogenic variant. Guideline-based cancer surveillance was recommended to 18 relatives; 13 (72%) completed at least one recommended screening, and six (33%) completed all recommended screenings. Risk-reducing surgery was recommended to 10 relatives; four (40%) completed a total of eight procedures. Quality-of-life surveys demonstrated low levels of anxiety, depression, distress, and uncertainty. CONCLUSIONS: The 2-year follow-up of the original pilot study revealed that clinician-facilitated cascade testing resulted in genetically targeted cancer screening and prevention with preserved quality of life. These results, to be confirmed by larger randomized controlled trials, suggest that medical systems should consider supporting clinician-facilitated cascade testing programs.

Impact of sex on outcomes of percutaneous coronary intervention for chronic total occlusion: A meta-analysis.

BACKGROUND: Women are underrepresented in chronic total occlusion (CTO) trials and little is known about sex differences in the outcomes of CTO percutaneous coronary intervention (PCI). This meta-analysis aims to compare the outcomes of CTO PCI in males and females. METHODS: A comprehensive search of PubMed, EMBASE, Cochrane, Web of Science, and Google Scholar was performed for studies comparing outcomes of CTO PCI in females versus males from inception to January 26, 2021. The current statistical analysis was performed using STATA version 15.1 software (Stata Corporation, TX); P < 0.05 indicated statistical significance. RESULTS: Fourteen observational studies were included in the analysis with 75% males and 25% females. The mean age was 64.47 ± 10.5 years and 68.98 ± 9.5 years for males and females, respectively. The median follow-up duration was 2.4 years. Males had a higher Japanese-CTO (J-CTO) score compared with females (MD = -0.17; 95% CI: -0.25 to -0.10). Females had statistically higher success rates of CTO PCI (RR = 1.03; 95% CI: 1.01 to1.05), required less contrast volume (MD = -18.64: 95% CI: -30.89 to -6.39) and fluoroscopy time (MD = -9.12; 95% CI: -16.90 to -1.34) compared with males. There was no statistical difference in in-hospital (RR = 1.50; 95% CI: 0.73 to 3.09) or longer term (≥6 months) all-cause mortality (RR = 1.10; 95% CI: 0.86 to 1.42) between the two groups. CONCLUSIONS: CTO PCI is feasible and safe in female patients with comparable outcomes in female versus male patients.

Valve deterioration: A victim of construct over time?

Surgical aortic valve replacement (sAVR) remains one of the most common cardiac operations performed globally on an annual basis. Biological and mechanical valves comprise the two classes of prosthetic valves available to surgeons. Biological prosthetic valves can be prone to failure and structural valve deterioration (SVD), which may necessitate reintervention. Recent literature suggests that the Trifecta heart valve is susceptible to early failure. In this retrospective study, Yount et al. use institutional data to assess the longevity of the Trifecta heart valve. The investigators included patients who had undergone sAVR and had received either a Trifecta prosthetic heart valve or a Magna/Magna Ease heart valve. While there were some baseline differences between the patient groups, the study found that those who had received a Trifecta valve had higher rates of valve failure. This is an important study that adds valuable evidence pertaining to the incidence of failure and SVD with the Trifecta heart valve. Although further studies may shed light on the precise mechanisms that drive valve failure and deterioration, surgeons should be aware of the mounting clinical data in this area.

A rare delayed complication after TAVR: Acute severe aortic insufficiency.

Transcatheter aortic valve replacement (TAVR) has become the standard of care for managing severe aortic stenosis (AS) in high surgical risk patients. Despite favorable outcomes, TAVR has been associated with complications, such as aortic regurgitation (AR). Post-TAVR aortic insufficiency, which can present at any time after the procedure, manifests as paravalvular leak, central leak, or a combination of the two. Herein, we describe a unique and atypical case of a patient who presented with heart failure and was found to have severe AR in the context of having had TAVR 5 years prior using an Evolut R prosthetic valve.