Family History Questionnaire Research Articles

Inflammation and endothelial dysfunction in pediatric migraine patients.

Inflammation and endothelial dysfunction are the suggested underlying mechanisms in migraine. Pentraxins, C-reactive protein, erythrocyte sedimentation rate, neutrophil to lymphocyte ratio, platelet to lymphocyte ratio are good indicators of inflammation. Alterations in insulin levels and insulin sensitivity may trigger endothelial dysfunction. This study evaluates the association between migraine and serum biomarkers of inflammation and endothelial dysfunction in children. Children with migraine and healthy subjects were recruited. Serum samples were obtained in an attack-free period. We collected data on serum levels of complete blood cell count, C-reactive protein, erythrocyte sedimentation rate, pentraxin-3, and data from biochemical investigations. We compared these with clinical data such as age, sex, disease duration, attack frequency, attack duration, analgesic use, family history, and Pediatric Migraine Disability Assessment Questionnaire scores. We assessed samples from 32 children (11 boys, 21 girls) with migraine and 19 healthy controls (8 boys, 11 girls). We found significantly higher pentraxin-3, insulin, and insulin resistance in patients with migraine (P = 0.001, P = 0.032, and P = 0.008, respectively). A positive directional correlation is found between pentraxin-3 and Pediatric Migraine Disability Assessment Questionnaire scores. The best cut-off values for pentraxin-3 is determined between 12.75 pg/mL to 15 pg/mL in migraineurs. In conclusion increased pentraxin-3 levels support the suggestions that inflammation plays a role in pediatric migraine. The vascular endothelial dysfunction is observed by a rise in insulin and insulin resistance levels. Our findings support the idea that ongoing inflammation and vascular endothelial dysfunction between attacks may play a role in migraine pathogenesis in children.

368 Serial vs. single cardiovascular screening of adolescent athletes

Abstract The primary objective of preparticipation cardiovascular evaluation (PPCE) in young athletes is to detect asymptomatic individuals with cardiovascular disease (CVD) at risk of sudden cardiac death (SCD). The study population included a consecutive series of competitive athletes age 12–18 years who underwent PPCE, which according to Italian law is mandatory and based on yearly evaluations, at the Center for Sports Medicine of Treviso (Veneto region of Italy), from 2009 to 2019. The screening protocol included personal and family history questionnaire, physical examination, resting 12-lead ECG, and limited stress testing for evaluation of exertional ventricular arrhythmias. 2,3 This latter test was performed using a bicycle with constant-load increases (i.e. 2 W/kg in female participants and 3 W/kg in male participants) for 3 min for at least 85% or more of maximal heart rate was achieved, plus 3 min of postexercise monitoring. 3 Athletes with a positive medical history and abnormal physical examination, ECG, or stress test underwent further investigations. The diagnostic yield of the initial screening session was compared with that of repeat PPCEs. Athletes with a definitive diagnosis of CVD at risk of SCD were considered ineligible for competitive sports, although they received a tailored programme for leisure physical activity and were enrolled in a yearly follow-up programme. Outcome data of screened athletes, either eligible or ineligible to play competitive sports, were obtained from office visits, hospital records, or interrogation of the Registry of Juvenile SCD of the Veneto region. The study population included 15 127 consecutive athletes (64% male, 96% White) who underwent a total of 53 396 annual PPCEs (mean 3.7 per athlete) over the 11-year study period. The median age at first screening was 13 years [interquartile range (IQR): 12–14]. Sixty-three athletes (65% male) were diagnosed with a CVD at risk of SCD such as congenital heart disease (n = 17), ion channel disease (n = 11), inherited cardiomyopathy (n = 13), isolated nonischaemic left ventricular scar (NLVS) with ventricular arrhythmias (n = 18), or other (n = 4); 266 athletes had cardiac conditions not associated with SCD. Seventeen of the 63 athletes (27%) with atrisk CVD had a positive family history, symptoms, or abnormal physical examination, 38 (60%) had ECG abnormalities, and 32 (51%) developed arrhythmias on limited exercise testing. CVDs more frequently identified on repeat evaluation included inherited cardiomyopathies [7/11 (64%)], NLVS with ventricular arrhythmias [15/18 (83%)], and long QT syndrome [7/11 (64%)]. During a mean follow-up of 6.7 ± 3.5 years, 1 athlete with a negative PPCE experienced an episode of aborted SCD attributable to ventricular fibrillation that remained unexplained after a comprehensive diagnostic workup (event rate, 0.98/100 000 athletes per year). These results show that annual cardiovascular screening of adolescent athletes increased by three times the diagnostic yield of CVD at risk of SCD compared with a once-only (initial) evaluation. Inherited cardiomyopathies and isolated NLVS with ventricular arrhythmias were the CVDs more frequently identified on repeat evaluation.

Determination of test performance of two contemporary screening tests for Lynch syndrome in endometrial cancer: A clinical trial

Background/purposePublished data on the performance of the immunohistochemistry (IHC) test for mismatch repair (MMR) protein expression to detect Lynch syndrome (LS) index cases suggests it is highly variable; its performance in our system was unknown. Moreover, a brief family history questionnaire (bFHQ) developed by Eiriksson and colleagues in Canada demonstrated 100% sensitivity for LS case identification thus was of interest to us, but its performance outside of its original setting was unknown. Determination of the performance of these tests requires complete LS case identification in the testing population. MethodsTwo hundred women were recruited during routine care for endometrial cancer (EC) to administer the bFHQ and perform genetic testing for the LS genes. Independently, the IHC test was performed to screen for presumptive LS cases. We determined the sensitivity, specificity, and positive and negative predictive values of the bFHQ and IHC test as well as simulating outcomes of the complete protocols. ResultsGenetic testing all participants identified 8 cases of LS out of 200 (4% prevalence), the bFHQ identified 5 of 8 of these cases (62.5%, CI: 31.5%–87.6%), and the IHC test identified 6 or 7 of 8 cases (mean of 75% or 87.5%) depending on interpretation of test results. The specificities of the bFHQ and IHC test were 56.8% (CI: 49.8%–63.7%) and 79.8% (CI: 73.6%–85.1%), respectively. ConclusionsThis study is the first, to our knowledge, to test the effectiveness of the bFHQ in an EC population since its original reporting; our results are consistent with many reports of the challenges of collecting family health history. The performance of the IHC test as a screen falls within ranges reported in the literature but do not provide the confidence to drive a decision for or against continued use of this test as a LS screen.

Comparing the performance of the novel FAMCAT algorithms and established case-finding criteria for familial hypercholesterolaemia in primary care

ObjectiveFamilial hypercholesterolaemia (FH) is a common inherited disorder causing premature coronary heart disease (CHD) and death. We have developed the novel Familial Hypercholesterolaemia Case Ascertainment Tool (FAMCAT 1) case-finding algorithm...

Family history recording in UK general practice: the lIFeLONG study.

BackgroundIn order to integrate genomic medicine into routine patient care and stratify personal risk, it is increasingly important to record family history (FH) information in general/family practice records. This is true for classic genetic disease as well as multifactorial conditions. Research suggests that FH recording is currently inadequate.ObjectivesTo provide an up-to-date analysis of the frequency, quality, and accuracy of FH recording in UK general/family practice.MethodsAn exploratory study, based at St Leonard’s Practice, Exeter—a suburban UK general/family practice. Selected adult patients registered for over 1 year were contacted by post and asked to complete a written FH questionnaire. The reported information was compared with the patients’ electronic medical record (EMR). Each EMR was assessed for its frequency (how often information was recorded), quality (the level of detail included), and accuracy (how closely the information matched the patient report) of FH recording.ResultsTwo hundred and forty-one patients were approached, 65 (27.0%) responded and 62 (25.7%) were eligible to participate. Forty-three (69.4%) EMRs contained FH information. The most commonly recorded conditions were bowel cancer, breast cancer, diabetes, and heart disease. The mean quality score was 3.64 (out of 5). There was little negative recording. 83.2% of patient-reported FH information was inaccurately recorded or missing from the EMRs.ConclusionFH information in general/family practice records should be better prepared for the genomic era. Whilst some conditions are well recorded, there is a need for more frequent, higher quality recording with greater accuracy, especially for multifactorial conditions.

Case-finding and genetic testing for familial hypercholesterolaemia in primary care

ObjectiveFamilial hypercholesterolaemia (FH) is a common inherited disorder that remains mostly undetected in the general population. Through FH case-finding and direct access to genetic testing in primary care, this intervention...

Mapping Users’ Experience of a Family History and Genetic Risk Algorithm Tool in Primary Care

Introduction: The development of a family history (FH) questionnaire (FHQ) provides an insight into a patient’s familiarity of a trait and helps to identify individuals at increased risk of disease. A critical aspect of developing a new tool is exploring users’ experience. Objective: The objective of this study was to examine users’ experience, obstacles and challenges, and their views and concerns in the applicability of a new tool for determining genetic risk in Slovenia’s primary care. Methods: We used a qualitative approach. The participants completed a risk assessment software questionnaire that calculates users’ likelihood of developing familial diseases. Audio-taped semi-structured telephone interviews were conducted to evaluate their experience. There were 21 participants, and analyses using the constant comparative method were employed. Results: We identified 3 main themes: obstacles/key issues, suggestions for improvements, and coping. The participants were poorly satisfied with the clarity of instructions, technical usability problems, and issues with the entry of relatives’ data. They expressed satisfaction with some of the characteristics of the FHQ (e.g., straightforward and friendly format, easy entry, and comprehension). They suggested simpler language, that the disease risk should be targeted toward the disease, that the FHQ should include patient-specific recommendations, and that it should be part of the electronic medical records. When discussing what would they do with the results of the FHQ, the participants used different coping strategies: active (e.g., seeking information) or passive (e.g., avoidance). Discussion/Conclusion: User experience was shown to be a synthesis of obstacles, overcoming them with suggestions for improvements, and exploration of various coping mechanisms that may emerge from dealing with the stressor of “being at risk.”

Study of rare genetic variants in TM4SF20, NFXL1, CNTNAP2, and ATP2C2 in Pakistani probands and families with language impairment

Language impairment (LI) is highly heritable and aggregates in families. Genetic investigation of LI has revealed many chromosomal regions and genes of interest, though very few studies have focused on rare variant analysis in non-English speaking or non-European samples. We selected four candidate genes (TM4SF20, NFXL1, CNTNAP2 and ATP2C2) strongly suggested for specific language impairment (SLI), a subtype of LI, and investigated rare protein coding variants through Sanger sequencing of probands with LI ascertained from Pakistan. The probands and their family members completed a speech and language family history questionnaire and a vocabulary measure, the Peabody Picture Vocabulary Test-fourth edition (PPVT-4), translated to Urdu, the national language of Pakistan. Our study aimed to determine the significance of rare variants in these SLI candidate genes through segregation analysis in a novel population with a high rate of consanguinity. In total, we identified 16 rare variants (according to the rare MAF in the global population in gnomAD v2.1.1 database exomes), including eight variants with a MAF <0.5% in the South Asian population. Most of the identified rare variants aggregated in proband's families, one rare variant (c.*9 T > C in CNTNAP2) co-segregated in a small family (PKSLI-64) and another (c.2465C > T in ATP2C2) co-segregated in the proband branch (PKSLI-27). The lack of complete co-segregation of most of the identified rare variants indicates that while these genes could be involved in the overall risk for LI, other genes are likely involved in LI in this population. Future investigation of these consanguineous families has the potential to expand our understanding of gene function related to language acquisition and impairment.

Performance characteristics of brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed ovarian cancers

<h3>Objectives:</h3> Ovarian cancer (OC) is the third most common Lynch syndrome (LS)-associated cancer in women but there is no established screening strategy to identify LS in this population. In centers without access to universal tumor immunohistochemistry (IHC) testing for mismatch repair (MMR) deficiency, family history may identify patients with OC suspected of LS, prompting a referral to genetic counseling. We have previously developed and shown that patient-administered 4-item brief Family History Questionnaire (bFHQ) can effectively identify women with confirmed LS in those with newly diagnosed endometrial cancers. The objective of this study was to assess whether bFHQ can be used as a screening tool to identify women with OC at high risk of LS. <h3>Methods:</h3> Prospective cohort study recruited women with newly diagnosed non-serous/non-mucinous OC from three cancer centers in Ontario, Canada. Participants completed bHFQ, extended Family History Questionnaire (eFHQ; encompassing Amsterdam II criteria, Society of Gynecologic Oncology 20-25% criteria and Ontario Ministry of Health criteria), IHC for MMR proteins and universal germline testing (reference standard) for LS. The sensitivity, specificity, positive and negative predictive values (PPV, NPV) were compared between the family history screening strategies and MMR IHC to identify LS. <h3>Results:</h3> Of 215 women, 169 (79%) were evaluable with both bFHQ and germline mutation status; 12 of these 169 were confirmed to have LS (7%). Median age was 53 years (range 21-71), and for all 12 patients with LS, OC was their sentinel malignancy (100%). Nine of 12 patients (75%) with LS were correctly identified by bFHQ, compared to 6 of 11 (55%) by eFHQ and 11 of 13 (85%) by IHC. The sensitivity, specificity, PPV and NPV values of bFHQ were 75%, 66%, 15% and 98%, compared to 55%, 92%, 35% and 96% for eFHQ and 85%, 90%, 39% and 99% for IHC respectively (Table 1). IHC was the most sensitive and specific approach. The 4-item bFHQ was more sensitive than eFHQ and took less than 10 minutes for each patient to complete. <h3>Conclusions:</h3> Patient-administered bFHQ may serve as an adequate screening tool to triage women with OC for further genetic assessment for LS, especially in centers without access to universal tumor testing for IHC for MMR or microsatellite instability.

Performance characteristics of brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed ovarian cancers.

e22525 Background: Ovarian cancer (OC) is the third most common Lynch syndrome (LS)-associated cancer in women but there is no established screening strategy to identify LS in this population. An adequate family history may identify patients suspected of LS, prompting a referral to genetic assessment. We have previously validated the 4-item brief Family History Questionnaire (bFHQ) in endometrial cancers. The objective of this study was to assess whether bFHQ can be used as a screening tool to identify women with OC at risk of LS. Methods: Prospective cohort study recruited women with newly diagnosed non-serous/non-mucinous OC from three cancer centers in Ontario, Canada. Participants completed bHFQ, extended Family History Questionnaire (eFHQ; encompassing Amsterdam II criteria, Society of Gynecologic Oncology 20-25% criteria and Ontario Ministry of Health criteria), immunohistochemistry (IHC) for mismatch repair (MMR) proteins and universal germline testing for LS. The performance characteristics were compared between bFHQ, eFHQ, and IHC. Results: Of 215 participants, 169 (79%) were evaluable with both bFHQ and germline mutation status; 12 of these 169 were confirmed to have LS (7%). Nine of 12 patients (75%) with LS were correctly identified by bFHQ, compared to 6 of 11 (55%) by eFHQ and 11 of 13 (85%) by IHC. The sensitivity, specificity, positive predictive values and negative predictive values of bFHQ were 75%, 66%, 15% and 98%, compared to 55%, 92%, 35% and 96% for eFHQ and 85%, 90%, 39% and 99% for IHC respectively. IHC was the most sensitive and specific approach. The 4-item bFHQ was more sensitive than eFHQ and took less than 10 minutes for each patient to complete. Conclusions: Patient-administered bFHQ may serve as an adequate screening tool to triage women with OC for further genetic assessment for LS, especially in centers without access to universal tumor testing for IHC for MMR.[Table: see text]

Maximizing cancer prevention through genetic navigation for Lynch syndrome detection in women with newly diagnosed endometrial and nonserous/nonmucinous epithelial ovarian cancer.

BackgroundDespite recommendations for reflex immunohistochemistry (IHC) for mismatch repair (MMR) proteins to identify Lynch syndrome (LS), the uptake of genetic assessment by those who meet referral criteria is low. The authors implemented a comprehensive genetic navigation program to increase the uptake of genetic testing for LS in patients with endometrial cancer (EC) or nonserous/nonmucinous ovarian cancer (OC).MethodsParticipants with newly diagnosed EC or OC were prospectively recruited from 3 cancer centers in Ontario, Canada. Family history questionnaires were used to assess LS‐specific family history. Reflex IHC for MMR proteins was performed with the inclusion of clinical directives in pathology reports. A trained genetic navigator initiated a genetic referral on behalf of the treating physician and facilitated genetic referrals to the closest genetics center.ResultsA total of 841 participants (642 with EC, 172 with OC, and 27 with synchronous EC/OC) consented to the study; 194 (23%) were MMR‐deficient by IHC. Overall, 170 women (20%) were eligible for a genetic assessment for LS: 35 on the basis of their family history alone, 24 on the basis of their family history and IHC, 82 on the basis of IHC alone, and 29 on the basis of clinical discretion. After adjustments for participants who died (n = 6), 149 of 164 patients (91%) completed a genetic assessment, and 111 were offered and completed genetic testing. Thirty‐four women (4.0% of the total cohort and 30.6% of those with genetic testing) were diagnosed with LS: 5 with mutL homolog 1 (MLH1), 9 with mutS homolog 2 (MSH2), 15 with mutS homolog 6 (MSH6), and 5 with PMS2.ConclusionsThe introduction of a navigated genetic program resulted in a high rate of genetic assessment (>90%) in patients with gynecologic cancer at risk for LS.

Improving primary care identification of familial breast cancer risk using proactive invitation and decision support

Family history of breast cancer is a key risk factor, accounting for up to 10% of cancers. We evaluated the proactive assessment of familial breast cancer (FBC) risk in primary care. Eligible women (30 to 60 years) were recruited from eight English general practices. Practices were trained on FBC risk assessment. In four randomly-assigned practices, women were invited to complete a validated, postal family history questionnaire, which practice staff inputted into decision support software to determine cancer risk. Those with increased risk were offered specialist referral. Usual care was observed in the other four practices. In intervention practices, 1127/7012 women (16.1%) returned family history questionnaires, comprising 1105 (98%) self-reported white ethnicity and 446 (39.6%) educated to University undergraduate or equivalent qualification, with 119 (10.6%) identified at increased breast cancer risk and offered referral. Sixty-seven (56%) women recommended referral were less than 50 years old. From 66 women attending specialists, 26 (39.4%) were confirmed to have high risk and recommended annual surveillance (40–60 years) and surgical prevention; while 30 (45.5%) were confirmed at moderate risk, with 19 offered annual surveillance (40–50 years). The remaining 10 (15.2%) managed in primary care. None were recommended chemoprevention. In usual care practices, only ten women consulted with concerns about breast cancer family history. This study demonstrated proactive risk assessment in primary care enables accurate identification of women, including many younger women, at increased risk of breast cancer. To improve generalisability across the population, more active methods of engagement need to be explored.Trial registration: CRUK Clinical Trials Database 11779.

Population genetic screening for hereditary breast and ovarian cancer in at-risk patients: A novel testing and prevention model for community hospitals reveals high mutation rates rurally.

1575 Background: Genetic testing for at risk non-cancer patients continues to increase (Guo F, et al Cancer 2020). We identified a high risk of familial breast and ovarian cancer in rural eastern North Carolina, and created a systematic approach for genetic screening, counseling and testing. Methods: A family history questionnaire was designed to assess for the risk for hereditary breast and ovarian cancer (HBOC) using NCCN guidelines, and used at key intake points within the unaffected population to determine eligibility for genetic testing. First it was offered at the time of all mammograms. Second, we offered it in the primary gynecology care setting to capture younger patients not participating in screening mammography. Patients meeting HBOC criteria were sent a letter and two phone calls to schedule genetic counseling. Analysis via descriptive statistics. Results: 3000 rural women screened using our systematic approach to genetic risk assessment. 22.4% (673/3000) of female patients met NCCN criteria for HBOC panel testing. All offered consultation and counseling. With a backlog to see patients due to higher than expected accrual, 217 patients have completed pre-test genetic counseling, 201 completed local 19-gene panel test, and 201 had post-test counseling. Germline mutations (=&gt;1) that predict for genetic susceptibility to cancer(s) occur in 7.8% of our screened and tested population. Currently 1 in 400 patients screened in our unaffected population carry a BRCA mutation, and 1 in 200 carry some pathogenic mutation that increases risk for HBOC. Conclusions: This rural model of screening and prevention of at risk patients for HBOC is successful at detecting pathogenic mutations in unaffected patients before they are diagnosed with cancer. Interestingly, the rate of positivity in the unaffected population (meeting criteria) is as high as the known breast cancer population rate of germline mutations (5-10%), validating the use of testing guidelines with our model. Discovering this susceptibility before a cancer diagnosis resulted in appropriate high risk management with prevention and risk reduction strategies. We plan to expand this model to the male screening population in 2021, and streamline genetic assessment and testing for the larger population at risk by engaging more rural primary care clinics over time to increase testing compliance. We also plan to consider broader gene panels as newer mutations become linked to HBOC. Clinical trial information: UMCIRB 19-001052.

Use of telephone intake for family history taking at a cancer genetics service in Asia.

Family history taking is a fundamental part of genetic counseling, and however, it is also a time-consuming process. To cope with the increasing demands at the Cancer Genetics Service in Singapore, alternative methods to collect patients' family history were implemented to reduce the duration of the initial consultation and increase the clinic's capacity. Two interventions were performed in this study, where a family history questionnaire and telephone intakes (telephone calls to collect patient family history) were implemented prior to a cancer genetics consultation. The primary outcome of this study is the duration of the initial consultation in relation to both interventions while the secondary outcome is the clinic attendance rate before and after implementing the telephone intake. The impact of interventions was evaluated with a Plan-Do-Study-Act (PDSA) methodology. The use of a family history questionnaire could not be evaluated due to poor patient response while the telephone intake was found to be feasible among the local population. Two improvements were observed after the implementation of telephone intake: (a) a significant reduction in the duration of the initial consultation from 60 to 45min (p=.001) and (b) a significant increase of 29.7% in clinic attendance (p=.01). This study demonstrates that collecting family history information ahead of genetic counseling via telephone intake is a useful measure in improving clinic capacity, which potentially resulting in optimization of clinical resources.

Addition of an online, validated family history questionnaire to the Dutch FIT-based screening programme did not improve its diagnostic yield

BackgroundFaecal immunochemical testing (FIT) is suboptimal in detecting advanced neoplasia (AN). To increase the sensitivity and yield of a FIT-based screening programme, FIT could be combined with risk factors for AN. We evaluated the incremental yield of adding a family history questionnaire (FHQ) on colorectal cancer (CRC) and Lynch syndrome-associated tumours to the Dutch FIT-based screening programme.MethodsSix thousand screen-naive individuals, aged 59–75 years, were invited to complete a FIT (FOB-Gold, cut-off 47 µg Hb/g faeces) and a validated online FHQ. Participants with a positive FIT and/or positive FHQ, confirmed after genetic counselling, were referred for colonoscopy. Yield of detecting AN per 1000 invitees for the combined strategy was compared with the FIT-only strategy.ResultsOf the 5979 invitees, 1952 (32.6%) completed the FIT only, 2379 (39.8%) completed both the FIT and FHQ and 95 (1.6%) completed the FHQ only. Addition of the FHQ to FIT-based screening resulted in one extra case of AN detected after 16 additional colonoscopies, resulting in a yield of 19.6 (95% CI, 16.4–23.5) for the combined strategy versus 19.5 (95% CI, 16.3–23.3) for the FIT-only strategy (p = 1.0).ConclusionsThe addition of an FHQ to one round of FIT screening did not increase the detection of AN compared with FIT only (ClinicalTrials.gov NCT02698462).

Impact of hereditary pancreatitis on patients and their families.

Hereditary pancreatitis (HP), a highly penetrant (~80%) autosomal dominant disease associated with PRSS1 variants, causes acute pancreatitis in childhood and chronic pancreatitis by early adulthood. Other clinical features include pain, diabetes, and risk of pancreatic cancer. HP kindreds were prospectively recruited from 1995 to 2015. At enrollment, study participants completed medical and family history questionnaires, and provided samples for genotyping. Participants were recontacted between 2015 and 2017 and asked to complete a survey on concerns and experiences related to HP, PRSS1 testing, and genetic counseling. Data were analyzed with descriptive and thematic methods. Thirty-nine affected participants with HP and 21 unaffected family members completed the survey. Among unaffected family members, 'worry' and 'helplessness' were frequently described as the most difficult problem in their family because of HP, particularly with regard to pain. Three participants described the impact of drug addiction on their family. 'School or work limitations' was the leading financial concern, with 65.5% (36/55) rating it as 'moderately' or 'extremely important.' Unexpectedly, only 62% (21/34) of affected PRSS1 carriers believed the chance for a parent to pass HP to his or her children was 50%, whereas 18% (6/34) believed the chance was 100%. The impact of HP on individuals and families varied, which may reflect the highly unpredictable nature of HP severity and outcomes. Based on current and previously reported findings, an overview of important issues for genetic counselors to consider for counseling HP families is included.

Clinical features of right-to-left shunt in the different subgroups of migraine.

ObjectiveSeveral investigations have documented an association between migraine and right‐to‐left shunt (RLS). However, whether there are specific clinical features that can distinguish between migraine patients with and without RLS is unclear. This study aims to explore whether there are specific clinical features that can distinguish between migraine patients with and without RLS, and to investigate the relationship between the degree of shunt and clinical parameters of headache.MethodsIn this study, we enrolled consecutive migraineurs who underwent a structured, standardized questionnaire for family and personal history and for detailed migraine features. RLS was diagnosed based on a contrast enhancement transcranial Doppler (c‐TCD) examination.ResultsOverall, 113 migraine with aura (MA) and 192 migraine without aura (MO) patients were included. Patients with MA and RLS (MARLS+) had a higher frequency for sensory aura symptoms than those with MA without RLS (MARLS−) (27.4% vs. 10.0%, p = .03). Patients with MO and RLS (MORLS+) presented with significantly younger initial age of migraine onset and experienced more severe pain intensity than those with MO without RLS (MORLS−) (mean ± SD, 25.6 ± 8.9 vs. 29.8 ± 12.7 years, p = .008 and 5.9 ± 1.4 vs. 5.3 ± 1.3, p = .006, respectively). There was no relationship between the degree of shunt and the clinical parameters of headache.ConclusionsOur results indicate that MO patients presented with a younger initial age of migraine onset and that sensory aura symptoms in MA patients may predict the presence of RLS. However, we did not find support for relationship between the degree of shunt and clinical parameters of headache.

Characteristics predicting recommendation for familial breast cancer referral in a cohort of women from primary care

Family history of breast and related cancers can indicate increased breast cancer (BC) risk. In national familial breast cancer (FBC) guidelines, the risk is stratified to guide referral decisions. We aimed to identify characteristics associated with the recommendation for referral in a large cohort of women undergoing FBC risk assessment in a recent primary care study. Demographic, family history, psychological and behavioural factors were collected with family history questionnaires, psychological questionnaires and manual data extraction from general practice electronic health records. Participants were women aged 30–60 with no previous history of breast or ovarian cancer. Data from 1127 women were analysed with stepwise logistic regression. Two multivariable logistic models were developed to predict recommendations for referral: using the entire cohort (n = 1127) and in a subgroup with uncertain risks (n = 168). Model performance was assessed by the area under the receiver operating curve (AUC). In all 1127 women, a multivariable model incorporating five family history components (BC aged < 40, bilateral BC, prostate cancer, first degree relative with ovarian cancer, paternal family history of BC) and having a mammogram in the last 3 years, performed well (AUC = 0.86). For the 168 uncertain risk women, only paternal family history of BC remained significant (AUC = 0.71). Clinicians should pay particular attention to these five family history components when assessing FBC risk, especially prostate cancer which is not in the current national guidelines.

Poly cystic ovarian disease (PCOD) - a modifiable risk factor of infertility: A quasi-experimental research from South India

Background: India has a population of 1.2 billion, nearly 30 million couples in the country suffer from infertility, in which female infertility is caused mainly by PCOD (40%). In Kerala, adolescent girls’ population comprises 7% and the prevalence is 15% (Annual vital report of statistics report 2015). The unhealthy eating habits and lack of exercise leads to PCOD. Therefore, as a nurse, the investigator has a pivotal role in creating awareness about the modification of lifestyle and prevention of future complications. The investigator observed that many students are diagnosed with PCOD during their physical training screening.&#x0D; Materials and methods: Quantitative research approach, using quasi-experimental one group pre-test – post- test design was adopted to collect data by non-probability convenient sampling from 48 adolescent girls between 17-20 years those who were studying first year B.Sc. nursing in a private nursing college, Kerala. Demographic characteristics were age, religion, weight, family history, previous knowledge and knowledge questionnaire consisted of 30 questions with 4 options regarding poly cystic ovarian disease.&#x0D; Results: Out of 48 subjects, majority (79.2%) were in the age group of 19-20 years, 47.9% were in the group of weight from 50-60 kg and 33.3% had menstrual problems. Majority 89.6% were not having family history and only 38.3% had previous knowledge. Pre- test showed that majority (97.91%) had average level of score, whereas in the post test majority (91.6%) adolescents had good knowledge regarding poly cystic ovarian disease. The calculated t value 19.79 at 0.05 level of significance indicated that the structured teaching programme was effective. The chi- square value was lower than the table value at 0.05 level showed that there was no significant association between knowledge and their selected demographic variables.&#x0D; Conclusion: Structured teaching programme regarding had improved the knowledge level of adolescent girls about poly cystic ovarian disease.

Characteristics of Atrial Fibrillation Patients with a Family History of Atrial Fibrillation.

Family history has been shown to be associated with increased risk of atrial fibrillation (AF). However, the specific AF characteristics that travel with a family history have not yet been elucidated. The purpose of this study was to determine whether a family history of AF is associated with specific patient characteristics in a worldwide, remote cohort. From the Health eHeart Study, an internet-based prospective cohort, we performed a cross-sectional analysis of AF participants who reported their family history and completed questionnaires regarding their medical conditions and AF symptoms. We assessed demographics, cardiovascular comorbidities, and AF symptom characteristics in AF participants with and without a family history of AF. In multivariable analysis of 5,884 participants with AF (mean age 59.9 ± 14.5, 59% male, 92% white), female sex (odds ratio [OR]=1.35, 95% CI, 1.17-1.54, p<0.0001) and birth in the U.S. (OR=2.54, 95% CI, 2.12-3.05, p<0.0001) were independently associated with having a family history of AF. Having a family history of AF was also more commonly associated with symptoms of shortness of breath (OR=1.40, 95% CI, 1.07-1.82, p=0.014), chest pain, pressure, or discomfort (OR=1.95, 95% CI, 1.22-3.13, p=0.0052), and feeling generally "off" about oneself (OR=1.84, 95% CI, 1.27-2.67, p=0.0013). Patients with a family history of AF are more likely to be female, be US-born, and experience symptoms of AF, suggesting underlying mechanistic differences between those with and without family history of AF.