P96 Screening for cerebrovascular pathology on the basis of positive family history in the paediatric population

2019 ◽  
Vol 90 (3) ◽  
pp. e47.3-e47
Author(s):  
CP Millward ◽  
LV Tonder ◽  
M Foster ◽  
D Williams ◽  
M Griffiths ◽  
...  

ObjectivesNeurovascular disorders are uncommon, complex conditions in children. We reviewed the screening practice and outcome of children referred to the neurovascular service on the basis of positive family history.DesignRetrospective review of prospectively maintained database.SubjectsChildren referred to the neurovascular service on the basis of family history, for screening at our hospital.MethodsWe retrospectively examined our database between July 2008 and April 2018 for the reasons for referral, family history, investigations performed, and the outcome of the screening process.Results44 children were reviewed (23 male, median age 10). Thirty-one children had an MRI/MRA brain. One child subsequently had uncomplicated digital subtraction angiography. Thirty children were referred due to a family history of subarachnoid haemorrhage, of which 17 had a single first-degree relative, and two had two first-degree relatives. Nine children were referred with a family history of arteriovenous malformation, (2 were associated with hereditary haemorrhagic telangiectasia). Five children were discussed due to a family history of non-specific haemorrhagic stroke. Seven children had a history of headache, (4 were prescribed Pizotifen for migraine). No neurovascular pathology was detected following screening within our cohort.ConclusionsA consensus screening policy does not exist but is required both to guide clinical practice and to assuage parental or patient concerns. We will survey UK paediatric centres to commence this process.


1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.



1997 ◽  
Vol 15 (4) ◽  
pp. 1478-1480 ◽  
Author(s):  
P A Kupelian ◽  
V A Kupelian ◽  
J S Witte ◽  
R Macklis ◽  
E A Klein

PURPOSE To determine if familial prostate cancer patients have a less favorable prognosis than patients with sporadic prostate cancer after treatment for localized disease with either radiotherapy (RT) or radical prostatectomy (RP). PATIENTS AND METHODS One thousand thirty-eight patients treated with either RT (n = 583) or RP (n = 455) were included in this analysis. These patients were noted as having a positive family history if they confirmed the diagnosis of prostate cancer in a first-degree relative. The outcome of interest was biochemical relapse-free survival (bRFS). We used proportional hazards to analyze the effect of the presence of family history and other potential confounding variables (ie, age, treatment modality, stage, biopsy Gleason sum [GS], and initial prostate-specific antigen [iPSA] levels) on treatment outcome. RESULTS Eleven percent of all patients had a positive family history. The 5-year bRFS rates for patients with negative and positive family histories were 52% and 29%, respectively (P < .001). The potential confounders with bRFS rates were iPSA levels, biopsy GS, and clinical tumor stage; treatment modality and age did not appear to be associated with outcome. After adjusting for potential confounders, family history of prostate cancer remained strongly associated with biochemical failure. CONCLUSION This is the first study to demonstrate that the presence of a family history of prostate cancer correlates with treatment outcome in a large unselected series of patients. Our findings suggest that familial prostate cancer may have a more aggressive course than nonfamilial prostate cancer, and that clinical and/or pathologic parameters may not adequately predict this course.



2022 ◽  
pp. 174749302110690
Author(s):  
Charlotte CM Zuurbier ◽  
Jacoba P Greving ◽  
Gabriel JE Rinkel ◽  
Ynte M Ruigrok

Background: Preventive screening for intracranial aneurysms is effective in persons with a positive family history of aneurysmal subarachnoid hemorrhage (aSAH), but for many relatives of aSAH patients, it can be difficult to assess whether their relative had an aSAH or another type of stroke. Aim: We aimed to develop a family history questionnaire for people in the population who believe they have a first-degree relative who had a stroke and to assess its accuracy to identify relatives of aSAH patients. Methods: A questionnaire to distinguish between aSAH and other stroke types (ischemic stroke and intracerebral hemorrhage) was developed by a team of clinicians and consumers. The level of agreement between the questionnaire outcome and medical diagnosis was pilot tested in 30 previously admitted aSAH patients. Next, the sensitivity and specificity of the questionnaire were assessed in 91 first-degree relatives (siblings/children) of previously admitted stroke patients. Results: All 30 aSAH patients were identified by the questionnaire in the pilot study; 29 of 30 first-degree relatives of aSAH patients were correctly identified. The questionnaire had a sensitivity of 97% (95% confidence interval (CI) = 83–100%) and a specificity of 93% (95% CI = 84–98%) when tested in the first-degree relatives of stroke patients. Conclusion: Our questionnaire can help persons to discriminate an aSAH from other types of stroke in their affected relative. This family history questionnaire is developed in the Netherlands but could also be used in other countries after validation.



Gut ◽  
2019 ◽  
Vol 69 (2) ◽  
pp. 304-310 ◽  
Author(s):  
Siew C Ng ◽  
Moe Htet Kyaw ◽  
Bing Yee Suen ◽  
Yee Kit Tse ◽  
Martin C S Wong ◽  
...  

ObjectiveThe risk associated with a family history of non-advanced adenoma (non-AA) is unknown. We determined the prevalence of colorectal neoplasms in subjects who have a first-degree relative (FDR) with non-AA compared with subjects who do not have an FDR with adenomas.DesignIn a blinded, cross-sectional study, consecutive subjects with newly diagnosed non-AA were identified from our colonoscopy database. 414 FDRs of subjects with non-AA (known as exposed FDRs; mean age 55.0±8.1 years) and 414 age and sex-matched FDRs of subjects with normal findings from colonoscopy (known as unexposed FDRs; mean age 55.2±7.8 years) underwent a colonoscopy from November 2015 to June 2018. One FDR per family was recruited. FDRs with a family history of colorectal cancer were excluded. The primary outcome was prevalence of advanced adenoma (AA). Secondary outcomes included prevalence of all adenomas and cancer.ResultsThe prevalence of AA was 3.9% in exposed FDRs and 2.4% in unexposed FDRs (matched OR (mOR)=1.67; 95% CI 0.72 to 3.91; p=0.238 adjusted for proband sex and proband age). Exposed FDRs had a higher prevalence of any adenomas (29.2% vs 18.6%; mOR=1.87; 95% CI 1.32 to 2.66; p<0.001) and non-AA (25.4% vs 16.2%; mOR=1.91; 95% CI 1.32 to 2.76; p=0.001). A higher proportion of exposed FDRs than unexposed FDRs (4.3% vs 2.2%; adjusted mOR=2.44; 95% CI 1.01 to 5.86; p=0.047) had multiple adenomas. No cancer was detected in both groups.ConclusionA positive family history of non-AA does not significantly increase the risk of clinically important colorectal neoplasia. The data support current guidelines which do not advocate earlier screening in individuals with a family history of non-AA.Trial registration numberNCT0252172.



2020 ◽  
Vol 9 (2) ◽  
pp. 289-297 ◽  
Author(s):  
Jon E. Grant ◽  
Samuel R. Chamberlain

AbstractBackgroundAlthough family history of psychiatric disorders has often been considered potentially useful in understanding clinical presentations in patients, it is less clear what a positive family history means for people who gamble in the general community. We sought to understand the clinical and cognitive impact of having a first-degree relative with a substance use disorder (SUD) in a sample of non-treatment seeking young adults.Methods576 participants (aged 18–29 years) who gambled at least five times in the preceding year undertook clinical and neurocognitive evaluations. Those with a first-degree relative with a SUD were compared to those without on a number of demographic, clinical and cognitive measures. We used Partial Least Squares (PLS) regression to identify which variables (if any) were significantly associated with family history of SUDs, controlling for the influence of other variables on each other.Results180 (31.3%) participants had a first-degree family member with a SUD. In terms of clinical variables, family history of SUD was significantly associated with higher rates of substance use (alcohol, nicotine), higher rates of problem gambling, and higher occurrence of mental health disorders. Family history of SUD was also associated with more set-shifting problems (plus higher rates of obsessive-compulsive tendencies), lower quality of decision-making, and more spatial working memory errors.ConclusionsThese results indicate that gamblers with a first-degree family member with a SUD may have a unique clinical and cognition presentation. Understanding these differences may be relevant to developing more individualized treatment approaches for disordered gambling. Compulsivity may be important as a proxy of vulnerability towards addiction.



2018 ◽  
Vol 36 (6_suppl) ◽  
pp. 223-223
Author(s):  
Panagiotis J. Vlachostergios ◽  
Ana M. Molina ◽  
Himisha Beltran ◽  
David M. Nanus ◽  
Scott T. Tagawa

223 Background: Germline DNA repair gene alterations in men with metastatic prostate cancer (PC) unselected for family history of malignancy occur in a greater frequency compared to localized PC and the general population. We hypothesized that assessing heritable alterations in a broader panel of high-susceptibility genes, may be relevant for detecting familial associations with other cancers in PC patients. Methods: We examined a cohort of 52 PC patients (median age 60, range 45-80) with histologically confirmed PC (17 localized, 35 metastatic). Germline DNA was isolated from blood lymphocytes or buccal swabs, and targeted next-generation sequencing was conducted with use of a previously validated panel of 30 genes associated with an elevated risk for common cancers (Color Genomics). As a reference for gene aberration frequencies we used the Exome Aggregation Consortium (ExAC) database. Results: The majority of patients (48/52, 92%) had a positive family history of cancer in any relative. Nine deleterious pathogenic mutations were identified in germline DNA samples from 8/52 (15%) patients, affecting the following genes: APC (n = 2, 3.8%), BRCA2 (n = 2, 3.8%), CHEK2 (n = 3, 5.7%), ATM (n = 1, 1.9%), RAD51D (n = 1, 1.9%). APC mutations were significantly more frequent in our cohort compared to the ExAC database (0.3%, p < 0.001). The frequency of DNA repair gene alterations (7/52, 13.5%) was also significantly higher compared to the ExAC database (0.3%, p < 0.001). The median overall survival (OS) between patients with and without germline gene alterations was similar (81.5 versus 74 months, respectively). The presence of heritable gene alterations from the 30-gene panel was significantly more frequent in patients with a positive family history of any cancer (p < 0.001) or prostate, breast, ovarian cancer (p = 0.001) in a first degree relative. Conclusions: The use of a targeted panel of high-susceptibility cancer-associated genes in PC not only confirms the enrichment of germline mutations in men with PC. It can also reveal associations of PC with other cancers which may portend implications for treatment and prognosis.



2011 ◽  
Vol 29 (28) ◽  
pp. 3747-3752 ◽  
Author(s):  
Cezary Cybulski ◽  
Dominika Wokołorczyk ◽  
Anna Jakubowska ◽  
Tomasz Huzarski ◽  
Tomasz Byrski ◽  
...  

Purpose To estimate the risk of breast cancer in a woman who has a CHEK2 mutation depending on her family history of breast cancer. Patients and Methods Seven thousand four hundred ninety-four BRCA1 mutation–negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T). Results A truncating mutation (IVS2+1G>A, 1100delC, or del5395) was present in 227 patients (3.0%) and in 37 female controls (0.8%; odds ratio [OR], 3.6; 95% CI, 2.6 to 5.1). The OR was higher for women with a first- or second-degree relative with breast cancer (OR, 5.0; 95% CI, 3.3 to 7.6) than for women with no family history (OR, 3.3; 95% CI, 2.3 to 4.7). If both a first- and second-degree relative were affected with breast cancer, the OR was 7.3 (95% CI, 3.2 to 16.8). Assuming a baseline risk of 6%, we estimate the lifetime risks for carriers of CHEK2 truncating mutations to be 20% for a woman with no affected relative, 28% for a woman with one second-degree relative affected, 34% for a woman with one first-degree relative affected, and 44% for a woman with both a first- and second-degree relative affected. Conclusion CHEK2 mutation screening detects a clinically meaningful risk of breast cancer and should be considered in all women with a family history of breast cancer. Women with a truncating mutation in CHEK2 and a positive family history of breast cancer have a lifetime risk of breast cancer of greater than 25% and are candidates for magnetic resonance imaging screening and for tamoxifen chemoprevention.



1989 ◽  
Vol 154 (5) ◽  
pp. 629-634 ◽  
Author(s):  
Michael J. Owen ◽  
Shôn W. Lewis ◽  
Robin M. Murray

Ventricular size was measured from CT scans in 48 patients meeting RDC for schizophrenia who had a first-degree relative with a history of treatment for major psychiatric disorder, in 48 age- and sex-matched schizophrenic patients with no such history in first- or second-degree relatives, and in 48 matched, healthy controls. There was no difference in ventricular size between those with and without a positive family history, although both groups showed ventricular enlargement with respect to normal controls. Ventricular enlargement was demonstrated in the subgroup of 23 patients with a family history of schizophrenia, but not in the subgroup of 18 patients with a family history of affective disorder. These observations provide further evidence that schizophrenics with a family history of affective disorder may constitute an aetiologically distinct subgroup.



2005 ◽  
Vol 20 (5-6) ◽  
pp. 451-455 ◽  
Author(s):  
Klaus Junghanns ◽  
Jutta Backhaus ◽  
Ulrike Tietz ◽  
Wolfgang Lange ◽  
Lothar Rink ◽  
...  

AbstractThirty male alcohol dependent inpatients without concurrent depressive disorder, 13 of them with a positive family history of alcohol dependence in a first degree relative (PFH), were questioned about their desire and consumption habits with respect to cigarettes, coffee, and sweets while on a three-week inpatient treatment after detoxification from alcohol. Six weeks after discharge from hospital, the patients were reassessed for relapse. Eleven patients (36.6%) had relapsed at follow-up. Relapsers were younger than abstainers. The days until relapse correlated negatively with intensity of desire to drink alcohol, desire to smoke cigarettes, and with a higher consumption of cigarettes. PFH patients did not relapse earlier but they had a stronger desire to drink coffee and eat sweets and had a higher coffee consumption.



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