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Introduction: This study fills the current research gap on knowledge, attitude, and practice on breast cancer among first-degree relatives by delivering a comprehensively created and developed questionnaire. Objective: To develop and validate questionnaires through content and face validation before proceeding with reliability and construct validity. Materials and methods: Refinement based on literature and expert input, divided into three domains, which are Knowledge, Attitude and Practice (KAP). Six experts validated the questionnaire, analysed it using the Item Content Validity Index (I-CVI) method, and modified kappa statistic. Expert panel recommendations and item impact scores are used to second draft a questionnaire and examine the face validity of the questionnaire in 15 subjects using the Item Face Validation Index (I-FVI). Results: From 72 to 68 questionnaires, following a content validity analysis, expert evaluation, and I-CVI analysis, certain questionnaires were relocated from their original domain to a new domain. The overall content validity index of the questionnaire using universal agreements (S-SCI/UA) was high, and the average approach (S-CVI/Ave) was 0.90. The average for I-FVI was 1.00. Conclusion: The KAP-BC-FDRQ questionnaire is a content and face-valid questionnaire that can be used to assess first-degree relatives of breast cancer patients, and its reliability and construct validity can be evaluated for the final questionnaire. [ABSTRACT FROM AUTHOR]

Background Associations between germline alterations in women and cancer risks among their relatives are largely unknown. Methods We identified women from 2 Swedish cohorts Karolinska Mammography Project for Risk Prediction of Breast Cancer (KARMA) and prevalent KARMA (pKARMA), including 28 362 women with genotyping data and 13 226 with sequencing data. Using Swedish Multi-Generation Register, we linked these women to 133 389 first-degree relatives. Associations between protein-truncating variants in 8 risk genes and breast cancer polygenic risk score in index women and cancer risks among their relatives were modeled via Cox regression. Results Female relatives of index women who were protein-truncating variant carriers in any of the 8 risk genes had an increased breast cancer risk compared with those of noncarriers (hazard ratio [HR] = 1.85, 95% confidence interval [CI] = 1.52 to 2.27), with the strongest association found for protein-truncating variants in BRCA1 and 2. These relatives had a statistically higher risk of early onset than late-onset breast cancer (P  = .001). Elevated breast cancer risk was also observed in female relatives of index women with higher polygenic risk score (HR per SD = 1.28, 95% CI = 1.23 to 1.32). The estimated lifetime risk was 22.3% for female relatives of protein-truncating variant carriers and 14.4% for those related to women in the top polygenic risk score quartile. Moreover, relatives of index women with protein-truncating variant presence (HR = 1.30, 95% CI = 1.06 to 1.59) or higher polygenic risk score (HR per SD = 1.04, 95% CI = 1.01 to 1.07) were also at higher risk of nonbreast hereditary breast and ovary cancer syndrome-related cancers. Conclusions Protein-truncating variants of risk genes and higher polygenic risk score in index women are associated with an increased risk of breast and other hereditary breast and ovary syndrome–related cancers among relatives. [ABSTRACT FROM AUTHOR]

RFC1 disease, caused by biallelic repeat expansion in RFC1 , is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson's coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-Poisson regression model was used to analyse the relationship between phenotype and repeat size. We performed multivariate linear regression to assess the association of the repeat size with the degree of cerebellar atrophy. Meiotic stability was assessed by Southern blotting on first-degree relatives of 27 probands. Finally, somatic instability was investigated by optical genome mapping on cerebellar and frontal cortex and unaffected peripheral tissue from four post-mortem cases. A larger repeat size of both smaller and larger allele was associated with an earlier age at neurological onset [smaller allele hazard ratio (HR) = 2.06, P < 0.001; larger allele HR = 1.53, P < 0.001] and with a higher hazard of developing disabling symptoms, such as dysarthria or dysphagia (smaller allele HR = 3.40, P < 0.001; larger allele HR = 1.71, P = 0.002) or loss of independent walking (smaller allele HR = 2.78, P < 0.001; larger allele HR = 1.60; P < 0.001) earlier in disease course. Patients with more complex phenotypes carried larger expansions [smaller allele: complex neuropathy rate ratio (RR) = 1.30, P = 0.003; cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) RR = 1.34, P < 0.001; larger allele: complex neuropathy RR = 1.33, P = 0.008; CANVAS RR = 1.31, P = 0.009]. Furthermore, larger repeat expansions in the smaller allele were associated with more pronounced cerebellar vermis atrophy (lobules I–V β = −1.06, P < 0.001; lobules VI–VII β = −0.34, P = 0.005). The repeat did not show significant instability during vertical transmission and across different tissues and brain regions. RFC1 repeat size, particularly of the smaller allele, is one of the determinants of variability in RFC1 disease and represents a key prognostic factor to predict disease onset, phenotype and severity. Assessing the repeat size is warranted as part of the diagnostic test for RFC1 expansion. [ABSTRACT FROM AUTHOR]

Background First-degree relatives of patients with abdominal aortic aneurysm (AAA) may have an increased risk of developing the disease. The primary aim was to report the prevalence of AAA in adult male and female offspring of patients with AAA. The secondary aim was to explore the efficiency of a registry-based detection route, and the third aim was to report contemporary prevalence in the population. Methods Adult offspring of individuals with AAA and matched controls were identified through national registries. The examination included questionnaires and ultrasound examinations of the infrarenal aorta. Aortic pathology was defined as an aortic diameter ≥25 mm, AAA ≥30 mm. Results The participation rate among male and female adult offspring was 64% (350/543) and 69% (402/583), respectively. A lower participation rate was found in male and female controls (51% and 52%). No difference in prevalence of AAA was observed between male adult offspring and controls (0.9%, c.i. 0.2 to 2.3%) or in the female population (prevalence of 0.2% in adult offspring and controls). Aortic pathology and previously diagnosed AAA were detected in 5.3% (c.i. 3.3 to 8.0%) of male adult offspring and 2.3% (c.i. 1.1 to 4.2%) in controls. Aortic pathology was more prevalent among adult offspring of females with AAA. Conclusion The prevalence of AAA in the general population is low, but aortic pathology is notably higher among male first-degree relatives. Increased awareness should be directed towards individuals with a possible hereditary predisposition, particularly offspring of females with AAA and older smokers. Risk factor-based targeted screening of adult offspring of patients with AAA after registry-based detection should be further explored. Trial registration ClinicalTrials.gov identifier, NCT4623268 [ABSTRACT FROM AUTHOR]

Previous studies on family history of psoriasis showed that patients with a family history have an earlier onset of the disease, but such studies in Japan are still limited. To elucidate the characteristics of patients with familial psoriasis, we studied the family history of patients with psoriasis using the West Japan Psoriasis Registry, a multi‐institutional registry operated by 26 facilities in the western part of Japan, including university hospitals, community hospitals, and clinics. This study enrolled 1847 patients registered between September 2019 and December 2021, with 199 (10.8%) having a family history of psoriasis. Patients with a family history of psoriasis had significantly earlier onset of the disease than those without a family history. Furthermore, patients with a family history of psoriasis had significantly longer disease duration. Psoriatic arthritis (PsA) was significantly more common in patients with a family history (69/199, 34.7%) than in those without a family history (439/1648, 26.6%) (adjusted P = 0.023). A subanalysis of patients with PsA revealed a significant difference in the patient global assessment (PaGA) score in Fisher's exact test and adjusted test. The numbers of patients with PaGA 0/1 were 29 (43.3%) and 172 (39.9%) in patients with PsA with and without family history of psoriasis, respectively, whereas the numbers of patients with PaGA 3/4 were 13 (19.4%) and 145 (33.6%) in patients with PsA with and without family history of psoriasis, respectively. Other disease severity variables did not show a difference between the two groups. Our findings suggest that genetics play a larger role in the development of PsA than in the development of psoriasis vulgaris. Most cases of PsA occur in patients who already have psoriasis, therefore dermatologists should pay attention to joint symptoms, especially in patients with psoriasis who have a family history of psoriasis. [ABSTRACT FROM AUTHOR]

Introduction Stuttering is a common occurrence in children which is also known as stammering, dysfluency or clutching of words. Aims of present study was to study association of age of onset and family history of stuttering with stutterers characteristics. Materials and Methods Total 136 stutterers were included in the study. All stutterers were subjected to complete ear nose and throat examination. All stutterers were evaluated by speech language therapist for diagnosis of speech disorder. Results Out of 136 stutterers 124 (91%) were male while 12 (9%) were female ranging from 6 years to 56 years, 15 (11%) had age of onset below 3 years, 98 (72%) had 3 years to 6 years while 23 (17%) had onset after age of 6 years, 44 (36.4%) male and 1 (8.3%) female patient had first degree family history of stuttering, 15 (11%) had mild stuttering, 98 (72%) had moderate stuttering while 23 (17%) had severe stuttering, 102 (75%) had secondary stuttering characteristics including 94 (75.8%) male and 8 (67%) female stutterers. Conclusion Present study concluded that there is definite association of between age of onset and severity of stuttering, between duration of stuttering and secondary characteristics and between severity and number of secondary characteristics of stuttering. We couldn’t find significant association between positive family history of stuttering among first degree relatives and age of onset, severity and secondary characteristics of stuttering.

Background: The Ontario Breast Screening Program recommends annual mammography to women age 50-74 years at increased risk because of family history of breast or ovarian cancer or personal history of ovarian cancer or mammographic density 75% or greater. Few studies have examined the diagnostic accuracy of recommendations based on risk factors and included screen film as well as digital mammography.Methods: A retrospective design identified concurrent cohorts of women age 50-74 years screened annually or biennially with digital mammography only between 2011 and 2014 and followed until 2016 or breast cancer diagnosis. Diagnostic accuracy measures were compared between women screened annually because of first-degree relative of breast or ovarian cancer or personal history of ovarian cancer (n = 67 795 women), mammographic density 75% or greater (n = 51 956), or both (n = 3758) and those screened biennially (n = 526 815). The association between recommendation and sensitivity and specificity was assessed using generalized estimating equation models. All P values are two-sided.Results: For annual screening because of family or personal history vs biennial, sensitivity was statistically significantly higher (81.7% vs 70.6%; OR = 1.86, 95% CI = 1.48 to 2.34), particularly for invasive cancers and postmenopausal women. Although there was no statistically significant difference in sensitivity for annual screening for mammographic density 75% or greater, specificity was statistically significantly lower (91.3%; OR = 0.87, 95% CI = 0.80 to 0.96) vs biennial (92.3%), particularly for women age 50-59 years.Conclusion: Compared with biennial screening, annual screening improved detection for women with a family or personal history of breast and/or ovarian cancer, supporting screening that is more frequent. The benefit for annual screening for women with higher mammographic density must be weighed against possible harms of increased false positives. [ABSTRACT FROM AUTHOR]

Background: Increased risk of malignancies other than pancreatic cancer (PC) has been reported among first-degree relatives (FDRs) of PC patients; however, the roles of susceptibility gene mutations are unclear. We assessed risk for 15 cancers among FDRs of unselected PC probands.Methods: Data on 17 162 FDRs, with more than 336 000 person-years at risk, identified through 2305 sequential PC probands enrolled at Mayo Clinic (2000-2016) were analyzed. Family history data were provided by the probands. Standardized incidence ratios (SIRs) and 95% confidence intervals (CIs) were calculated, comparing malignancies observed among the FDRs with that expected using Surveillance, Epidemiology, and End Results (SEER) data. Genetic testing was performed among a subset of probands (n = 2094), enabling stratified analyses among FDRs based on whether the related proband tested positive or negative for inherited mutation in 22 sequenced cancer susceptibility genes. All statistical tests were two-sided.Results: Compared with SEER, PC risk was twofold higher among FDRs of PC probands (SIR = 2.04, 95% CI = 1.78 to 2.31, P < .001). Primary liver cancer risk was elevated among female FDRs (SIR = 2.10, 95% CI = 1.34 to 3.12, P < .001). PC risk was more elevated among FDRs of mutation-positive probands (SIR = 4.32, 95% CI = 3.10 to 5.86) than FDRs of mutation-negative probands (SIR = 1.77, 95% CI = 1.51 to 2.05, between-group P < .001). FDR PC risk was higher when the related proband was younger than age 60 years at diagnosis and mutation-positive (SIR = 5.24, 95% CI = 2.93 to 8.64) than when the proband was younger than age 60 years but mutation-negative (SIR = 1.76, 95% CI = 1.21 to 2.47, between-group P < .001). Breast (SIR = 1.29, 95% CI = 1.01 to 1.63) and ovarian (SIR = 2.38, 95% CI = 1.30 to 4.00) cancers were elevated among FDRs of mutation-positive probands.Conclusions: Our study substantiates twofold risk of PC among FDRs of PC patients and suggests increased risk for primary liver cancer among female FDRs. FDRs of susceptibility mutation carriers had substantially increased risk for PC and increased risk for breast and ovarian cancers. [ABSTRACT FROM AUTHOR]

Background: The prevalence of chronic kidney disease (CKD) is estimated to be 8% to 16% worldwide and 8.9% in the general population of Thailand. There is minimal information about prevalence of CKD among family members of end stage renal disease (ESRD) patients. Objective: To investigate the prevalence of CKD among first-degree relatives of dialysis patients in Thailand. Materials and Methods: The present observational study was conducted in first degree relatives of dialysis patients at the Bhumirajanagarindra Kidney Institute. Participants aged between 18 and 60 years old were enrolled for CKD screening. CKD was defined by the KDIGO criteria. Results: One hundred seventy-nine participants were enrolled. The average age was 45.9±9.9 years and the average eGFR was 103.3±13 ml/minute/1.73 m?. The median urine albumin creatinine ratio (UACR) was 7 (2 to 985) mg/g Cr. The prevalence of combined CKD stages 1 and 2 was 6.2%. Factors associated with CKD were diabetes, history of using non-steroidal antiin flammatory drugs (NSAIDs), and history of using angiotensin-converting enzyme (ACEI)/angiotensin II receptor blocker (ARB). Conclusion: The prevalence of CKD among the first-degree relatives of dialysis patients was 6.2%. Early screening of early CKD and prevention program including education should be introduced to this group of people. [ABSTRACT FROM AUTHOR]

In cascade testing, genetic testing for an identified familial pathogenic variant extends to disease-free relatives to allow genetically targeted disease prevention. We evaluated the results of an online initiative in which carriers of 1 of 30 cancer-associated genes, or their first-degree relatives, could offer low-cost testing to at-risk first-degree relatives. In the first year, 1101 applicants invited 2280 first-degree relatives to undergo genetic testing. Of invited relatives, 47.5% (95% confidence interval [CI] = 45.5 to 49.6%) underwent genetic testing, and 12.0% (95% CI = 9.2 to 14.8%) who tested positive continued the cascade by inviting additional relatives to test. Of tested relatives, 4.9% (95% CI = 3.8 to 6.1%) had a pathogenic variant in a different gene from the known familial one, and 16.8% (95% CI = 14.7 to 18.8%) had a variant of uncertain significance. These results suggest that an online, low-cost program is an effective approach to implementing cascade testing, and that up to 5% of the general population may carry a pathogenic variant in 1 of 30 cancer-associated genes. [ABSTRACT FROM AUTHOR]

Background: First-degree relatives (FDRs) of hypertensive (HT) are predisposed to hypertension (HTN) which accelerates cardiovascular aging. Same can be studied noninvasively by pulse wave analysis (PWA), encompassing central hemodynamics such as central blood pressure (cBP), cardiac output, and stroke work (SW) and vascular stiffness parameters such as pulse wave velocity (PWV) and augmentation index at HR 75 (AIx@75). We studied PWA-derived cardiovascular parameters in FDRs of HT compared to controls. Materials and Methods: We conducted a case--control study in 119 FDRs of HT and 119 matched controls. Oscillometric PWA was performed by Mobil-o-Graph (IEM, Germany) and cardiovascular parameters were compared. P < 0.05 was considered statistically significant. Results: Groups were comparable with gender, age, height, weight, body mass index, and physical activity. FDRs of HT had significantly higher brachial and cBPs, SW (101.41 ± 25.44 vs. 88.31 ± 20.25, P = 0.001), rate pressure product-119.40 ± 25.34 vs. 108.34 ± 18.17, P < 0.0001), PWV (5.22 ± 0.46, P < 0.0001), and AIx@75 (31.48 ± 9.01 vs. 27.95 ± 9.4, P = 0.002) than control. Dependent study variables correlated with brachial blood pressure more in magnitude and significance level than age or anthropometric variables. PWA results of FDR with maternal inheritance did not differ significantly from those with paternal inheritance. Conclusion: PWA reveals early cardiovascular aging in young FDRs of HTs. It clues to future cardiovascular disease including HTN itself, need for primary prevention, and further study for consolidation of these results. [ABSTRACT FROM AUTHOR]

Background: Colorectal cancer (CRC) is the fourth most common cancer among men and the second among women in Iran. First- Degree Relatives (FDRs) of patients with CRC are known to be at higher risk of CRC. The aim of this study was to identify the most cost- effective strategy for CRC screening in Iranian high risk individuals. Methods: A Markov model was developed to assess the cost-effectiveness of six colonoscopy screening strategies for individuals at increased risk of CRC because of positive history of the disease in at least one first-degree relative in their family. Our strategies included five-yearly or ten-yearly colonoscopy starting from the age of 40 or 50 and colonoscopy once at 50 or 55 years. Data were extracted from the published literature, Globocan 2012 database, and national cancer registry reports. The Markov model contained 11 mutually exclusive health states. Time horizon of model was life time and cycle duration was 1 year. Outcomes included life year gains, Quality Adjusted Life Years (QALYs) and costs. The TreeAge Pro software was used for data modeling. Results: All six screening strategies increased the life expectancy and QALY and were costlier than no screening. The incremental cost per QALY gained for CRC screening varied from $489 for one colonoscopy screening per lifetime at 55 years to $3,135 for colonoscopy screening every five years starting at the age of 40, compared with no screening. When strategies were compared with the next best strategy, dominated strategies were removed from analysis, one colonoscopy screening per lifetime at 55 years old; or every ten years starting at the age 40; or every five years starting at age 40 remained with incremental cost effective ratios of $489, $2,505, and $26,080 per QALY gained, respectively. Conclusions: CRC colonoscopy screening in high-risk individuals is cost-effective in Iran. Colonoscopy screening every 10 years starting at the age of 40 was the most cost-effective strategy. [ABSTRACT FROM AUTHOR]

Objective: The prevalence of Abdominal Aortic Aneurysm (AAA) is higher for First Degree Relatives to AAA-patients compared to the general population, regardless of sex. The prevalence of AAA is also higher in the North of Sweden compared to the Mid and South. A regional strong hereditary trait has been suggested as an explanation to this. The aim of this study was to investigate if siblings to AAA-patients in the North have a higher prevalence of AAA compared to siblings in the Mid-region.Design: Cohort study.Materials and Methods: All patients treated for AAA in a northern region (Norrbotten county, North) were screened for siblings. Consenting siblings, age 40-80, were examined (n = 379) with ultrasound. The results were compared to the previously published results of 150 ultrasound-screened siblings in the Mid-region (Stockholm county).Results: The male/female ratio in the sibling cohort was 48% vs 52%. The prevalence of AAA in siblings in the North was 37/379 (brothers 14%, sisters 6%). This was not different from the prevalence among the Mid-region siblings 16/150 (brothers 17%, sisters 6% (p = 0.75). The distribution of risk factors was similar in the two regions.Conclusion: The results reinforce the importance of a more systematic approach towards selective screening of all siblings to AAA patients. Ultrasound should be performed in all eligible siblings, since the distribution of AAA is similar over regions. A correlation between the familial distribution and the reported high prevalence of AAA in general population in the North could not be shown. [ABSTRACT FROM AUTHOR]

Background/aim: IgA deficiency is the most common human primary immunodeficiency. The prevalence of allergic disorders and autoimmunity is thought to be increased in selective IgA deficiency (sIgAD). However, it is currently unclear if these disorders coincide within these families. We aimed to evaluate the frequency of allergic and autoimmune disorders in children with sIgAD and their firstdegree relatives (FDRs). Materials and methods: The study included 81 children diagnosed with sIgAD and 274 of their FDRs. The presence of allergic and autoimmune disorders was evaluated and serum antithyroglobulin and antithyroid peroxidase levels were measured in both patients and their first-degree relatives. Results: The mean age of the patients was 9.9 ± 3.9 years. Among the patients with sIgAD, 45.7% of them had at least one allergic disorder and 17.3% of them had at least one autoimmune disorder. The frequencies of asthma, allergic rhinitis, and eczema in the FDRs of sIgAD patients were 10.9%, 9.1%, and 7.7%, respectively. Among their FDRs, 14.6% had autoimmunity, compared to an estimate of 5% in the general population. Conclusion: Increased frequency of allergic and autoimmune disorders in patients with sIgAD and their FDRs suggests a possible common predisposing genetic component for sIgAD and autoimmunity in these families. [ABSTRACT FROM AUTHOR]

Background: First-degree relatives (FDRs) of hypertensive (HT) are predisposed to hypertension (HTN) which accelerates cardiovascular aging. Same can be studied noninvasively by pulse wave analysis (PWA), encompassing central hemodynamics such as central blood pressure (cBP), cardiac output, and stroke work (SW) and vascular stiffness parameters such as pulse wave velocity (PWV) and augmentation index at HR 75 (AIx@75). We studied PWA-derived cardiovascular parameters in FDRs of HT compared to controls. Materials and Methods: We conducted a case–control study in 119 FDRs of HT and 119 matched controls. Oscillometric PWA was performed by Mobil-o-Graph (IEM, Germany) and cardiovascular parameters were compared. P < 0.05 was considered statistically significant. Results: Groups were comparable with gender, age, height, weight, body mass index, and physical activity. FDRs of HT had significantly higher brachial and cBPs, SW (101.41 ± 25.44 vs. 88.31 ± 20.25, P = 0.001), rate pressure product-119.40 ± 25.34 vs. 108.34 ± 18.17, P < 0.0001), PWV (5.22 ± 0.46, P < 0.0001), and AIx@75 (31.48 ± 9.01 vs. 27.95 ± 9.4, P = 0.002) than control. Dependent study variables correlated with brachial blood pressure more in magnitude and significance level than age or anthropometric variables. PWA results of FDR with maternal inheritance did not differ significantly from those with paternal inheritance. Conclusion: PWA reveals early cardiovascular aging in young FDRs of HTs. It clues to future cardiovascular disease including HTN itself, need for primary prevention, and further study for consolidation of these results.

OBJECTIVE: Multiple Sclerosis (MS) is an autoimmune disease that could be seen simultaneously with other diseases with autoimmune origin. OBJECTIVE: In this descriptive study, it was aimed to evaluate the relationship between MS and other autoimmune diseases among MS patients and their first degree relatives in two different centers, Ankara and Samsun. METHODS: 784 MS were included in the study. The data was gathered via interviews and patient record reviews. MS patients and their first degree relatives were asked for 13 specific autoimmune diseases which have been supposed to occur more frequently in MS patients. Data was evaluated seperately as patient record reviews and questionare interview. Ankara and Samsun center results were compared with each other. RESULTS: Among the interviewed subjects, 9 (5.3%) had co-occurrent autoimmune disease while the relatives of 26 (15.3%) was found to have autoimmune disease in Ankara. These figures were respectively 8 (17.4%) and 21 (45.7%) in Samsun. Both comorbid autoimmune disease among patients and autoimmune disease among relatives were observed to be higher in Samsun. Psoriasis was the mostly seen disease in Samsun and one of the mostly seen diseases in Ankara (1.2% in Ankara, 8.7% in Samsun). Multiple sclerosis (5.9%) and rheumatoid arthritis (32.6%) were the mostly seen diseases among relatives in Ankara and Samsun, respectively. According to the patient record reviews, the proportion of comorbid autoimmune disease in MS patients was 2.9% in Ankara and 5.2% in Samsun. In the whole group the proportion of the autoimmune diseases among female patients (17.4%) and their relatives was higher than male patients (5.3%) and their relatives. In Ankara, autoimmune thyroid disease (Graves and Hashimoto disease) was mostly seen whereas Behçet's disease was the most prominent in Samsun. CONCLUSION: In the study it was observed that among MS patients the percentage of having a comorbid disease was high. Besides, among the patients’ relatives, percentage of autoimmnue diseases, especially MS was observed to be high. Psoriasis was among the mostly seen diseases in both groups. MS and rheumatoid arthritis were observed to be the mostly seen autoimmune diseases among relatives

Background: Non-communicable diseases constitute about 68% of global death annually. Among NCD deaths, cardiovascular diseases (CVD) ranks first with a share of 46.2% amounting to 17.5 million deaths. First degree relatives of patients with coronary heart disease have a higher risk of getting cardiovascular events due to interplay between genetic as well as environmental factors. The aim of this research WAS to assess the prevalence of Cardiovascular Disease (CVD) risk factors and to estimate the cardiovascular risk among first degree relatives of CAD patients. Methodology: A cross-sectional study was performed in first degree relatives of coronary artery disease patients in cardiology ward of JIPMER a tertiary care hospital in Puducherry. Overall 218 first degree relatives aged ≥18 were involved in study. The desired information was obtained using a pre-tested questionnaire and participants were also subjected to anthropometric measurements and laboratory investigations. WHO/ISH risk prediction charts for the South-East Asian region was used to assess the cardiovascular risk among the study participants according to age, gender, blood pressure, smoking status, and presence or absence of diabetes mellitus. Results: The study covered 218 adults aged above 18 years. The mean age of the subjects was 41 (± 9) years and 56% subjects were men. Around 10% of the participants had more than 10% risk for the occurrence of cardiovascular events by using WHO/ISH risk prediction charts. In addition, CVD risk factors like physical inactivity, smoking, alcohol abuse, obesity, hypertension, diabetes abnormal lipid profile were found in 22.5%, 19.2%, 16.1%, 12.4%, 33%, 29% and 13.8% study participants, respectively. Conclusion: This cross-sectional study indicates that there is a high burden of CVD risk in the first degree relatives of coronary artery disease patients as assessed by WHO/ISH risk prediction charts. Opportunistic screening programs and appropriate risk stratification based management needs to be initiated for the first degree relatives of CVD patients. [ABSTRACT FROM AUTHOR]

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Background: To correlate pollen count with pulmonary function tests in first degree asymptomatic relatives of asthmatic patients as well as in asthmatic patients as control sharing common genetic and environmental exposure. Methods: The study was cross-sectional comparative comprising of 120 subjects, of whom 60 were the first degree asymptomatic relatives of non-asthmatic patients. Portable office spirometry was carried out along with pollen count on the same day taken from the meterological department data. Result: The spirometric variables like PEFR, FEV1, FEV6 and FEV1/FEV6 were deranged as pollen count increased. The changes in these variables were found to be present before development of clinical signs and symptoms of pollen allergy. Conclusion: High risk individuals like first-degree relatives not having symptoms of pollen allergy show decrement in pulmonary function tests parameters during high pollen count seasons.

Background: Type 2 diabetes mellitus (T2DM) has high morbidity and mortality worldwide, therefore there is of paramount importance to identify the risk factors in the populations at risk early in the course of illness. A strong correlation between severity of metabolic syndrome (MetS) and HbA1c, fasting insulin and insulin resistance has been reported. Accordingly, the MetS severity score (or MestS Z-score) can potentially be used to predict the risk of T2DM progression over time., Aim: To evaluate the association the of MestS Z-score in first degree relatives (FDRs) of T2DM with the risk of prediabetes and type 2 diabetes in future., Methods: A prospective open cohort study was conducted between 2003-2018. At baseline, the sample comprised of 1766 FDRs of patients with T2DM who had a normal glucose tolerance test. Relative risk (RR) and 95% confidence interval were calculated based on logistic regression. The receiver-operator characteristic analysis and area under the curve based on MetS Z-score were used to evaluate the risk of prediabetes and diabetes among the FDR population., Results: Baseline MetS Z-scores were associated with the its latest values ( P < 0.0001). Compared with individuals who were T2DM free at the end of follow up, those who developed T2DM had higher MetS Z-score at baseline ( P < 0.001). In multivariable logistic regression analyses for every unit elevation in MetS Z-score at the baseline, the RR for developing future T2DM and prediabetes was (RR = 1.94, RR = 3.84), (RR = 1.5, RR = 2.17) in total population and female group, respectively ( P < 0.05). The associations remained significant after adjusting the potential confounding variables. A cut off value of 0.97 and 0.94 was defined in the receiver-operator characteristic curve based on the MetS Z-score for differentiating female patients with diabetes and prediabetes from the normal population, respectively., Conclusion: The MetS Z-score was associated with an increased risk of future T2DM. Appropriate interventions at earlier stages for preventing and attenuating MetS effects may be considered as an effective strategy for FDR as at-risk population., Competing Interests: Conflict-of-interest statement: The authors of this manuscript having no conflicts of interest to disclose., (©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.)

Background A family and personal history of breast (B), ovarian(O), and pancreatic(P) cancer was reported to be a predictive marker in patients with pancreatic adenocarcinoma (PA) treated with platinum-based chemotherapy. We planned a prospective phase II trial to evaluate the efficacy and safety of platinum-based chemotherapy in this population. Method Eligible patients had chemotherapy-naïve metastatic PA, had one or more of the followings: 1) at least one family history of P/B/O/prostate (PR) cancer in a first-degree relative, 2) at least two family members with history of P/B/O/PR cancer within third-degree relatives, and 3) at least one personal history of B/O/PR cancer.Patient suitable for FOLFIRINOX or gemcitabine plus nab-paclitaxel were ineligible unless patient refuse those regimens. Patients received gemcitabine 1000mg/m2and oxaliplatin 100 mg/m2 every two weeks (GEMOX). The primary endpoint was the one-year survival rate and 44% were desired. The sample size was calculated to be 43 pts, with a one-sided alpha of 5% and a power of 80%. Results A total of 45 pts were enrolled. First 43 pts were included in primary analysis. One-year survival rate was 27.9 [90%CI;17.0-41.3]% and didn't met pre-planned boundary. Response rate was 27.9%. Tendency of prolonged survival was observed in patients with two or more family histories of P/B/O/PR cancer (HR 0.65, 95%CI [0.34-1.23]). Family history or personal history with B/O/PR cancer tended to be associate with better response and prolonged survival. In this study, patient with family history of pancreatic cancer seemed to be associate with poor response. The most common adverse events of grade 3 or higher were neutropenia (36%), leukopenia (27%), thrombocytopenia (23%) and elevated level of ALT (20%). Treatment related death was not observed. Conclusion GEMOX did not show expected efficacy in patients with metastatic PA with family history or personal history of P/B/O/PR cancer. [ABSTRACT FROM AUTHOR]

Background Malignant melanoma (MM) patients are at increasing risk of developing second primary cancers (SPCs). We assessed mortality and risk of SPCs in MM patients with siblings or parents affected with same cancer compared with that of the general population. Methods We used the Swedish Family-Cancer Database to assess relative risks (RRs) and causes of death in SPCs until 2015 in patients with a MM diagnosis between 1958 and 2015. We identified 35 451patients with MM among whom 3212 received a subsequent diagnosis of SPC. RRs of SPCs after MM diagnosis were calculated stratifying over concordant family history of cancer in first-degree relatives. Results Familial RRs were increased for second melanoma (RR = 19.28, 95% CI = 16.71 to 22.25), squamous cell skin cancer (RR = 7.58, 95% CI = 5.57 to 10.29), leukemia (RR = 5.69, 95% CI = 2.96 to 10.94), bladder (RR = 4.15, 95% CI = 2.50 to 6.89), ovarian (RR = 3.89, 95% CI = 1.46 to 10.37), kidney cancer (RR = 3.77, 95% CI = 1.57 to 9.06), cancer of unknown primary (RR = 3.67, 95% CI = 1.65 to 8.16), nervous system (RR = 2.88, 95% CI = 1.20 to 6.93), breast (RR = 2.34, 95% CI = 1.92 to 2.84), lung (RR = 2.24, 95% CI = 1.50 to 3.35), and prostate cancer (RR = 2.22, 95% CI = 1.89 to 2.61) with statistical significance. For all cancers, familial RR was in excess (2.09, 95% CI = 2.02 to 2.16 vs 1.78, 95% CI = 1.69 to 1.87; Ptrend <  .0001). Cause of death in MM patients with SPC is shown to be dependent on the cancer site though SPCs contributed to majority of deaths. Conclusions SPCs appear higher with prior family history of cancer and contribute to mortality. SPC was the most common cause of death in patients with SPC and is almost uniformly the major contributing cause of death for all cancer sites. For improved survival in MM patients, prevention and early detection of SPCs would be important. [ABSTRACT FROM AUTHOR]

Background: First degree relatives (FDR) of type 2 diabetic (T2D) are predisposed for type 2 diabetes mellitus (T2DM) which accelerates cardiovascular aging. Pulse wave analysis (PWA) gives non-invasive measurement of central hemodynamics like central blood pressure (cBP), cardiac output (CO), stroke work (SW) and vascular stiffness like pulse wave velocity (PWV) and augmentation index at heart rate 75 (AIx@75)., Objective: To study PWA derived cardiovascular parameters in FDRs of T2D as compared to controls., Materials and Methods: We enrolled 117 FDRs of T2D and 117 matched controls for a cross-sectional study. We performed PWA using Mobil-o-Graph (IEM, Germany) by oscillometric method to derive cardiovascular parameters which were compared and correlated for significance. P value less than 0.05 was considered statistically significant., Results: Gender, age, height, weight, body mass index (BMI), physical activity were comparable between groups. FDRs of T2D had significantly higher blood pressure (brachial-systolic 125 vs 118, diastolic 80 vs 77, mean 100 vs 96mmHg and central- systolic 113 vs 105, diastolic 82 vs 79, pulse pressure 31 vs 28mmHg), SW (98 vs 90gm/bt), rate pressure product (RPP- 113 vs 107), PWV (5.14 vs 4.89m/s), AIx@75 (30 vs 27) than control. Dependant variables correlated with brachial BP more than age or anthropometric variables. Result did not differ by maternal or paternal inheritance in case group., Conclusions: Young, sedentary, non-obese FDRs of T2D have adverse cardiovascular profile which is suggested to worsen before or with onset of T2DM and definitely need attention for life style modification as primary prevention., (Copyright © 2017. Published by Elsevier B.V.)