Disease In First-degree Relatives Research Articles

The prevalence and risk factors of kidney disease in first degree relatives of patients with ESRD treatment – single center study

Objective: To determine the prevalence and risk factors of kidney disease in first degree relatives of patients undergoing treatment for end-stage renal disease. Method: The prospective, cross-sectional study was conducted at the Sindh Institute of Urology and Transplantation, Karachi, from May 1 to July 31, 2021, and comprised patients undergoing treatment for end-stage renal disease at the pre-transplant out-patients clinic, and their first degree relatives. Risk factors of chronic kidney disease, including age, gender, body mass index, hypertension, diabetes mellitus, and the causes of index cases were investigated alongside proteinuria, haematuria and estimated glomerular filtration rate. Diagnosis was made according to the criteria of the National Kidney Foundation-Kidney Disease Outcomes Quality Initiative. The participants were divided chronic kidney disease group 1, and healthy group 2. The risk factors were compared between the groups. Data was analysed using SPSS 22. Results: Of the 1,406 subjects assessed, 266(19%) were ESRD patients; 175(65.8%) males and 91(34.2%) females with mean age 34.04±11.19 years. 1,140(81%) first degree relatives of these 266 ESRD patient were assessed; 595(52.2%) males and 545(47.8%) females with mean age 36.78±13.76 years. Among the relatives, 146(12.8%) had chronic kidney disease out of which 54 (4.7%) were already aware of their underlying disease. Older age, hypertension and diabetes mellitus were among the risk factors for chronic kidney disease (p<0.05), while gender was not significantly different between groups 1 and 2 (p>0.05). The relatives of index cases with underlying stone disease were at higher risk of haematuria 39(22.4%), whereas the relatives of index cases with chronic glomerulonephritis were at higher risk of proteinuria 67(28.03%) compared to index cases of other kinds (p<0.05). Conclusion: Screening in the high-risk population might help to identify early chronic kidney disease patients for making suitable interventions to prevent disease progression. Key Words: ESRD, First degree relatives, CKD.

Familial clustering of nonalcoholic fatty liver disease in first-degree relatives of adults with lean nonalcoholic fatty liver disease.

The heritability of nonalcoholic fatty liver disease (NAFLD) in lean individuals is undetermined. This familial aggregation study aimed to evaluate familial linkage for NAFLD and the risk of NAFLD among first-degree relatives of probands with lean NAFLD. This study prospectively recruited cohorts of probands with lean NAFLD, probands with obese NAFLD, and lean probands with non-NAFLD and their respective first-degree relatives. A total of 257 participants were evaluated for liver steatosis, defined by the controlled attenuation parameter ≥288 dB/m2 , metabolic characteristics, and the PNPLA3, TM6SF2, and MBOAT7 polymorphisms. The prevalence of NAFLD in first-degree relatives of lean NAFLD probands (39.9%) was similar to that in the obese NAFLD group (36.9%) and was significantly higher than in lean persons without NAFLD (19.1%). First-degree relatives of probands with NAFLD who were male, and had central obesity, hypertriglyceridaemia, insulin resistance, and the PNPLA3 rs738409C>G allele had a significantly higher prevalence of NAFLD. After multivariable adjustment for gender, metabolic characteristics, and the PNPLA3 rs738409C>G allele, first-degree relatives of probands with lean NAFLD (odds ratio [OR], 5.13; 95% CI, 1.77-14.86) and obese NAFLD (OR, 3.20; 95% CI, 1.14-8.99) exhibited an increased risk of NAFLD compared with those of lean controls without NAFLD. Our well-phenotype cohorts revealed familial clustering of NAFLD and higher risks of NAFLD in first-degree relatives of probands with lean or obese NAFLD. The findings encourage clinicians caring for NAFLD patients to be more vigilant for NAFLD in their family members.

Risk profile of patients with spontaneous cervical artery dissection.

Epidemiological data to characterize the individual risk profile of patients with spontaneous cervical artery dissection (sCeAD) are rather inconsistent. In the setting of the Italian Project on Stroke in Young Adults Cervical Artery Dissection (IPSYS CeAD), we compared the characteristics of 1,468 patients with sCeAD (mean age, 47.3±11.3; males, 56.7%) prospectively recruited at 39 Italian centres with those of 2 control groups, composed of 1) patients whose ischemic stroke was caused by mechanisms other than dissection (non-CeAD IS) selected from the prospective IPSYS registry and Brescia Stroke Registry and 2) stroke-free individuals selected from the staff members of participating hospitals, matched 1:1:1 by sex, age, and race. Compared to stroke-free subjects, sCeAD patients were more likely to be hypertensive (OR,1.65; 95%CI,1.37-1.98), to have personal history of migraine with aura (OR,2.45; 95%CI,1.74-3.34), without aura (OR,2.67; 95%CI,2.15-3.32) and family history of vascular disease in first-degree relatives (OR,1.69; 95%CI,1.39-2.05), and less likely to be diabetic (OR,0.65; 95%CI,0.47-0.91), hypercholesterolemic (OR,0.75; 95%CI,0.62-0.91), and obese (OR,0.41; 95%CI,0.31-0.54). Migraine without aura was also associated with sCeAD (OR,1.81; 95%CI,1.47-2.22) in comparison with patients with non-CeAD IS. In the subgroup of patients with migraine, sCeAD patients had higher frequency of migraine attacks and were less likely to take anti-migraine preventive medications, especially beta-blockers, compared with the other groups. The risk of sCeAD is influenced by migraine, especially migraine without aura, more than by other factors, increases with increasing frequency of attacks, and seems to be reduced by migraine preventive medications, namely beta-blockers. This article is protected by copyright. All rights reserved.

Screening for Adrenocortical and Thyroid Peroxidase Antibodies to Look for Underlying Autoimmune Etiologies in Women under 35 with Idiopathic Dimished Ovarian Reserve

Background: Autoimmune disorders are more common in premature ovarian insufficiency (POI) than in the general population. The most important association is with autoimmune Addison’s disease. Measurement of adrenocortical antibodies (ACA) and/or 21-hydroxylase antibodies (21-OH) is recommended in every POI patients as they appear to be the marker with the highest diagnostic sensitivity for autoimmune POI. Also thyroid peroxidase autoantibodies (TPO-Ab) should be assayed due to the common association between thyroid disease and POI. The underlying etiologies of diminished ovarian reserve (DOR) in young women can be expected to be similar to the etiology of POI since they represent a continuum in the phenotypic expression of premature ovarian aging. Methods: This pilot case-control study was conducted between January 2019 and April 2020. The study group consisted of patients under the age of 35, who was infertile and diagnosed with idiopathic DOR by ovarian reserve tests during infertility work up. Controls were patients of the same age range who diagnosed with isolated tubal factor or male infertility and had functional ovarian reserve test results during infertility work up. Patients with a history of ovarian surgery, cancer, genetic or autoimmune disease were excluded. Abnormal ovarian reserve tests are defined as antral follicle count <5 and anti-mullerian hormone (AMH) <1.2 ng/dL corresponding to group 3 according to POSEIDON criteria. In total, 35 DOR patients and 35 controls were included in the study. ACA and TPO-Ab screening were performed in serum samples using indirect immunofluorescence method. Demographics and family history of autoimmune diseases were also evaluated. Results: A higher rate of ACA positivity was detected in the DOR group (34.3%) compare to controls (17.1%), although it was not found to be statistically significant (p = 0.101, p < 0.05). The incidence of family history of autoimmune diseases in first degree relatives was positively correlated with ACA positivity (p = 0.006, p < 0.05). In DOR group, autoimmune disease history in the family was significantly higher in ACA (+) patients compared to ACA (–) individuals (p = 0.03, p < 0.05). TPO-Ab positivity rates were similar between 2 groups (17.1% vs 20%, p = 0.759, p < 0.05). Conclusions: Even if there is no specific treatment option yet for autoimmune ovarian damage, screening for ACA or 21-OH antibodies may be considered in young women with idiopathic DOR, especially those with a family history of autoimmune disease, based on knowledge that identification of women with autoimmune POI is clinically important for the identification of subclinical autoimmune Addison’s cases.

Infantile Colic and Long-Term Outcomes in Childhood: A Narrative Synthesis of the Evidence.

About 1 in 4 infants comes forward with prolonged crying, agitation, or infant colic (IC) during the first three months of life and is referred for medical evaluation. The pathogenesis remains poorly understood, as do its implications for future health. The aim of this narrative review was to critically examine and discuss the available literature on long-term consequences of excessive crying and/or colic. Most studies display an association between IC and the onset of functional gastrointestinal disorders (FGIDs) years later, probably related to the presence of common etiopathogenetic factors (environmental, dietary, intestinal dysmotility, visceral hypersensitivity). Although allergic disease in first-degree relatives may be a risk factor for IC, the latter does not appear to be a risk factor for subsequent atopic disease in the individual. Overall, there seems to be a relationship between IC and subsequent headaches, of the migraine type. Similarly, behavioral problems in children with a history of IC appear to be associated with higher parental stress scores. However, the current evidence is based on associations, and currently, a causal relationship between excessive crying and IC and long-term consequences remains not documented.

PSAT329 A Delayed Diagnosis of Subclinical Hypothyroidism Due to Interferences with Thyroid Function Immunoassays

Abstract Introduction Automated immunoassays used to evaluate thyroid function tests (TFTs) are susceptible to various forms of interference that can lead to inaccurate results and misdiagnosis. Case Description A 55-year-old male was diagnosed with abnormal TFTs since 2017 [TSH 7.32 mIU/L (range 0.4-4.5), FT3 5.1 pg/mL (range 2.3-4.2), and FT4 1.2 ng/dL (range 0.9-2.2)]. Thyroid peroxidase antibody and thyroglobulin antibody were positive. He was on levothyroxine 50 mcg daily since 2017, and he did not feel significantly different despite treatment. He was referred to endocrine clinic in 2021. He had no symptoms of hypothyroidism or hyperthyroidism except occasional palpitations and headache. He reported blurred vision due to cataracts. He denied thyroid diseases in first degree relatives. He denied taking biotin or desiccated thyroid extract. Physical examination was unremarkable. Differentials included TSH-producing adenoma, assay interference, exogenous T3 use, T3 thyrotoxicosis with interference of TSH assay, and thyroid hormone resistance. Levothyroxine was discontinued in May 2021. Other pituitary hormones including alpha-subunit and MRI pituitary were unremarkable, which ruled out TSH-producing adenoma. Human anti mouse antibody (HAMA) was normal. In June 2021, prior to seeing genetics, FT4, FT3 and Total T3 were checked with equilibrium dialysis method and values were 1.2 ng/dL (range 0.9-2.2), 238 pg/dL (range 210-440) and 105 ng/dL (range 76-181), respectively and TSH 9.13 mIU/L (range 0.40-4.50), thyroglobulin 0.6 ng/ml (range 2.8-40.9), reverse T3 LC/MS/MS 12 ng/dL (range 8-25). Labs were therefore consistent with subclinical hypothyroidism, and he was started back on levothyroxine 75 mcg every morning. Discussion TFTs are usually measured by automated immunoassays, and this will have accurate results in most cases. However, immunoassays are vulnerable to interferences that can affect clinical decisions. It is important to consider assay interference such as this and to confirm with equilibrium dialysis method before pursuing further aggressive workup. Conclusion Potential interferences in TFTs should always be suspected whenever discrepancies arise. Awareness of these conditions is critical to the institution of appropriate therapy and preventing misdiagnosis. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

Characteristics of Pediatric Patients With Celiac Disease Identified Due to an Affected First-Degree Family Member.

The incidence of celiac disease in first-degree relatives of affected individuals is higher than in the general population, yet the clinical characteristics of this unique subset of patients has not been well described. Through a retrospective review of patients seen in a tertiary care pediatric celiac disease clinic, we identified 49 patients diagnosed with celiac disease following screening due to an affected first-degree relative. Although 51% of patients screened due to an affected first-degree relative were asymptomatic, their disease histology was as severe as those screened for symptoms suggestive of celiac disease. These findings support current recommendations to screen all first-degree relatives of patients with celiac disease regardless of clinical symptoms.

Woman With Left Pulsatile Exophthalmos

Neurofibromatosis is rarely seen in emergency departments unless it becomes symptomatic. There are 3 types of neurofibromatosis. Neurofibromatosis type 1 (NF-1; von Recklinghausen disease) is the most common of the 3 types of neurofibromatosis disease. In the disease, there are skin, peripheral and central nervous system, bone, and soft tissue involvements, and there is an increase in the susceptibility to cancer. 1 Hirbe A.C. Gutmann D.H. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014; 13: 834-843https://doi.org/10.1016/S1474-4422(14)70063-8 Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar NF-1 is seen once in 3000 births, showing autosomal dominant inheritance and affecting many systems simultaneously. 2 Ghalayani P. Saberi Z. Sardari F. Neurofibromatosis type I (von Recklinghausen’s disease): a family case report and literature review. Dent Res J (Isfahan). 2012; 9 (PMC3491339): 483-488 Google Scholar The NF-1 gene is located on chromosome 17 and encodes a type of tumor suppressor protein called neurofibromin. As a result of incomplete or incorrect folding of this protein, benign and rarely malignant nerve tumors are seen from the early stages of life. Because the disease affects many systems at the same time, the diagnostic criteria have been shaped in this direction. Diagnostic criteria include café au lait spots, neurofibromas, axillary and/or inguinal freckles, optic glioma, Lisch nodules (iris hamartomas), typical bone lesions, and NF-1 disease in first-degree relatives. 3 Ferner R.E. Huson S.M. Thomas N. et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007; 44: 81-88https://doi.org/10.1136/jmg.2006.045906 Crossref PubMed Scopus (645) Google Scholar In uncertain cases, genetic testing may be requested to confirm the diagnosis. Metin Yadigaroglu is Assistant Professor, Faculty of Medicine, Department of Emergency Medicine, Samsun University, Samsun, Turkey. Twitter: @mtnydgrdr. Melih Imamoglu is Assistant Professor, Faculty of Medicine, Department of Emergency Medicine, Karadeniz Technical University, Trabzon, Turkey. Twitter: @melihimam. Muhammet Fatih Beser is Emergency Specialist, Faculty of Medicine, Department of Emergency Medicine, Karadeniz Technical University, Trabzon, Turkey. Twitter: @drfatih. Sinan Pasli is Assistant Professor, Faculty of Medicine, Department of Emergency Medicine, Karadeniz Technical University, Trabzon, Turkey.

Increased Prevalence of Familial Autoimmune Disease in Children With Opsoclonus-Myoclonus Syndrome.

Background and ObjectivesOpsoclonus-myoclonus syndrome (OMS) is a rare autoimmune disorder associated with neuroblastoma in children, although idiopathic and postinfectious etiologies are present in children and adults. Small cohort studies in homogenous populations have revealed elevated rates of autoimmunity in family members of patients with OMS, although no differentiation between paraneoplastic and nonparaneoplastic forms has been performed. The objective of this study was to investigate the prevalence of autoimmune disease in first-degree relatives of pediatric patients with paraneoplastic and nonparaneoplastic OMS.MethodsA single-center cohort study of consecutively evaluated children with OMS was performed. Parents of patients were prospectively administered surveys on familial autoimmune disease. Rates of autoimmune disease in first-degree relatives of pediatric patients with OMS were compared using Fisher exact t test and χ2 analysis: (1) between those with and without a paraneoplastic cause and (2) between healthy and disease (pediatric multiple sclerosis [MS]) controls from the United States Pediatric MS Network.ResultsThirty-five patients (18 paraneoplastic, median age at onset 19.0 months; 17 idiopathic, median age at onset 25.0 months) and 68 first-degree relatives (median age 41.9 years) were enrolled. One patient developed systemic lupus erythematosus 7 years after OMS onset. Paraneoplastic OMS was associated with a 50% rate of autoimmune disease in a first-degree relative compared with 29% in idiopathic OMS (p = 0.31). The rate of first-degree relative autoimmune disease per OMS case (14/35, 40%) was higher than healthy controls (86/709, 12%; p < 0.001) and children with pediatric MS (101/495, 20%; p = 0.007).DiscussionIn a cohort of pediatric patients with OMS, there were elevated rates of first-degree relative autoimmune disease, with no difference in rates observed between paraneoplastic and idiopathic etiologies, suggesting an autoimmune genetic contribution to the development of OMS in children.

P–697 screening for adrenocortical and thyroid peroxidase antibodies to look for underlying autoimmune etiologies in women under 35 with idiopathic diminished ovarian reserve

Abstract Study question Investigate whether screening for autoimmune etiologies is necessary in women with diminished ovarian reserve (DOR) as recommended in the evaluation of premature ovarian insufficiency (POI). Summary answer Adrenocortical antibodies (ACA) screening can be performed in the evaluation of women with idiopathic DOR, especially those with a family history of autoimmune disease. What is known already Autoimmune disorders are more common in POI than in the general population. The most important association is with autoimmune Addison’s disease. Measurement of ACA and / or 21 OH-A is recommended in every POI patients as they appear to be the marker with the highest diagnostic sensitivity for autoimmune POI. Also thyroid peroxidase autoantibodies (TPO-Ab) should be assayed due to the common association between thyroid disease and POI. The underlying etiologies of DOR in young women can be expected to be similar to the etiology of POI since they represent a continuum in the phenotypic expression of premature ovarian aging. Study design, size, duration This pilot case-control study was conducted between January 2019 and April 2020. The study group consisted of patients under the age of 35, who was diagnosed with idiopathic DOR by ovarian reserve tests during infertility work up. Controls were patients of the same age range who diagnosed with isolated tubal factor or male infertility and had normal ovarian reserve test results during infertility work up. Participants/materials, setting, methods Patients with a history of ovarian surgery, cancer, genetic or autoimmune disease were excluded. Abnormal ovarian reserve tests are defined as antral follicle count &amp;lt; 5 and AMH &amp;lt; 1.2 ng/dl corresponding to group 3 according to POSEIDON criteria. In total, 35 DOR patients and 35 controls were included in the study. ACA and TPO-Ab screening were performed in serum samples using indirect immunofluorescence method. Demographics and family history of autoimmune diseases were also evaluated. Main results and the role of chance A higher rate of ACA positivity was detected in the DOR group (34.3%) compare to controls (17.1%), although it was not found to be statistically significant (p = 0.101). The incidence of family history of autoimmune diseases in first degree relatives was positively correlated with ACA positivity (p = 0.006). In DOR group, autoimmune disease history in the family was significantly higher in ACA (+) patients compared to ACA (-) individuals (p = 0.03). TPO-Ab positivity rates were similar between 2 groups (17.1% vs%20, p = 0.75). Limitations, reasons for caution Since this is an observational study and also due to the small sample size, a causal conclusion cannot be reached. Wider implications of the findings: Even if there is no specific treatment option yet for autoimmune ovarian damage, screening for ACA or 21 OH-A may be considered in young women with idiopathic DOR based on knowledge that identification of women with autoimmune POI is clinically important for the identification of subclinical autoimmune Addison’s cases. Trial registration number non applicable

Echocardiography for latent rheumatic heart disease in first degree relatives of children with acute rheumatic fever: Implications for active case finding in family members.

BackgroundIndividuals with Acute Rheumatic Fever (ARF) often report a family history of ARF or Rheumatic Heart Disease (RHD) however the degree of familial susceptibility to RHD is poorly defined. This study aimed to determine RHD prevalence among first degree relatives of ARF patients using echocardiography.MethodsChildren with ARF were recruited from Auckland, New Zealand. Parents and siblings ≥ 4years were offered echocardiography. Echocardiograms were reported according to World Heart Federation 2012 criteria. RHD prevalence in first degree relatives was compared to previously established population rates in the region.FindingsIn total, 70 index cases with ARF were recruited. Echocardiography was performed in 94 parents and 132 siblings. There were 3 siblings with definite RHD and 9 with borderline RHD. There were 4 parents with definite RHD. Overall prevalence of RHD (definite and borderline) in siblings was 90/1,000 (95% CI 45–143/1,000) compared to 36/1,000 (95% CI 30–42/1,000) in New Zealand children from high ARF incidence populations (p 0.001). Prevalence of definite RHD in parents was 42/1,000 (95% CI 7–87/1,000) compared to 22/1,000 (95% CI 9–36/1,000) in adults from a high ARF incidence New Zealand population (p 0.249).InterpretationRHD prevalence in siblings and parents of ARF cases is significantly greater than in comparable background populations. The contribution of hereditary versus environmental risk factors remains uncertain. We recommend targeted echocardiographic case-finding among siblings and parents of ARF/RHD cases in order to detect previously unrecognized latent RHD.

Thirty percent of children and young adults with familial hypercholesterolemia treated with statins have adherence issues

ObjectiveTo assess adherence to lipid lowering therapy (LLT), reasons for poor adherence, and achievement of LDL-C treatment goals in children and young adults with familial hypercholesterolemia (FH). MethodsRetrospective review of the medical records of 438 children that started follow-up at the Lipid Clinic, Oslo University hospital, between 1990 and 2010, and followed-up to the end of July 2019. Based on information on adherence to the LLT at the latest visit, patients were assigned to “good adherence” or “poor adherence” groups. Reasons for poor adherence were categorized as: “lack of motivation”, “ran out of drugs”, or “side effects”. ResultsThree hundred and seventy-one patients were included. Mean (SD) age and follow-up time at the latest visit was 24.0 (7.1) and 12.9 (6.7) years; 260 patients (70%, 95% CI: 65–74%) had “good adherence” and 111 (30%, 95% CI: 25–35%) had “poor adherence”. “Lack of motivation” was the most common reason for poor adherence (n = 85, 23%). In patients with good adherence, compared to patients with poor adherence, age at latest visit (24.6 versus 22.0 years; p = 0.001), years of follow-up (13.5 versus 11.4 years; p = 0.003), and number of visits (8.1 versus 6.5 visits; p<0.001) were significantly higher, whereas LDL-C at the latest visit was lower, (3.1 (0.8) versus 5.3 (1.6) mmol/L; p<0.001) and percentage of patients reaching LDL-C treatment goal was higher, (34.5% versus 2.7%; p<0.001). Gender, BMI, age at first visit and premature cardiovascular disease in first degree relatives were not significantly associated with adherence. ConclusionThirty percent of young patients with FH had poor adherence to LLT, with lack of motivation as the main reason. Higher age, more visits and more years of follow-up were associated with good adherence.

Paediatric Acute onset Neuropsychiatric Syndrome: Exploratory study finds no evidence of HLA class II association but high rate of autoimmunity in first-degree relatives.

Paediatric acute-onset neuropsychiatric syndrome (PANS) is defined by an acute onset of obsessive-compulsive disorder and/or eating restrictions and at least two other severe neuropsychiatric symptoms. The condition is suspected to have an immune-mediated pathophysiology, but reliable biomarkers have not been identified. We hypothesised that PANS, like narcolepsy, might have a human leucocyte antigen (HLA) association, as found in 95% of children developing narcolepsy after H1N1 immunisation. Low resolution genotyping of the MHC class II antigens HLA-DRB1 and HLA-DQB1 was performed using two different PCR-based methods. In addition, parents were interviewed regarding a detailed family history of autoimmune diseases in first-degree relatives. A total of 18 children, aged 5-14 (mean 8.2) years at onset of PANS met symptom criteria. No evident association between PANS and the specific HLA alleles examined was observed. In first-degree relatives of 10 of the 18 children, an autoimmune disease had been diagnosed, and three of the 18 children themselves had an autoimmune disease. No HLA allele association such as seen in children with narcolepsy after H1N1 immunisation could be confirmed in this group of children with PANS. However, more than half the group had a first-degree relative with a diagnosed autoimmune disease.

Evaluation of Calprotectin Levels in First-Degree Relatives of Patients with Ulcerative Colitis

Recent studies have shown the diagnostic value of fecal as well as serum calprotectin in predicting the severity and activity of inflammatory bowel disease. Given the strong familial and inherited predisposition to inflammatory bowel disease, it is assumed that changes in calprotectin levels are also influenced by familial predispositions. Therefore, the present study aimed to evaluate the level of fecal calprotectin in patients and their first-degree relatives in order to determine the relationship between changes in this marker and its possible familial orientation. The study participants were the first-degree relatives (n = 100) of the patients (n = 33) with the definitive diagnosis of ulcerative colitis who referred to Rasoul-e-Akram hospital in 2018 and 2019. The fecal value of calprotectin was assessed using the ELISA method in both patients and the relatives. Fecal calprotectin level in patients was estimated to be 232.09±44.16μg/g. Fecal calprotectin level in the parents was 86.06±12.66μg/g, in siblings was 58.02±7.24μg/g and in the patient's children was 47.40±4.77μg/g. Fecal calprotectin levels were not affected by baseline indices such as gender, age, or BMI (either in patients or their relatives) and therefore these baseline factors had no effect on fecal calprotectin levels. Although fecal calprotectin levels are significantly longer in patients with ulcerative colitis than in healthy controls, the higher level of this marker among first-degree relatives of patients than healthy individuals also indicates the inherited tendency of changes in this marker in terms of high risk of disease in first-degree relatives of patients. These changes in fecal calprotectin levels will be independent of gender, age, and BMI

Associations of Perirenal Fat Thickness with Renal and Systemic Calcified Atherosclerosis.

BackgroundWe investigated associations between perirenal fat thickness and atherosclerotic calcification in six different vascular beds.MethodsUsing a community-based cohort (n=3,919), perirenal fat thickness was estimated from computed tomography scans. It was classified as Q1 (the lowest quartile) to Q4 (the highest quartile) in each sex. Calcification in the carotid arteries, coronary arteries, thoracic aorta, abdominal aorta, iliac arteries, and renal arteries was evaluated.ResultsPerirenal fat thickness was associated with older age (P<0.01) and a higher prevalence of obesity, hypertension, and dyslipidemia (P<0.01 for all). Perirenal fat thickness was independently associated with renal arterial calcification even after adjustment for age, sex, body mass index, hypertension, dyslipidemia, smoking history, and family history of heart diseases in first-degree relatives (odds ratio [OR] per quartile of perirenal fat thickness, 1.25; 95% confidence interval [CI], 1.09 to 1.44). Compared to Q1, the odds of renal arterial calcification in Q4 was about two times higher (OR, 2.05; 95% CI, 1.29 to 3.25). After adjustment for renal arterial calcification and atherosclerotic risk factors, the only other vascular bed where perirenal fat thickness showed a significant association with calcification was the abdominal aorta (OR, 1.11; 95% CI, 1.00 to 1.23; P=0.045).ConclusionPerirenal fat thickness was independently associated with vascular calcification in the renal artery and abdominal aorta.

Risk of liver disease in first-degree relatives of patients with advanced NAFLD: initial data from an Italian cohort study

Background and aims: Nonalcoholic fatty liver disease (NAFLD) is becoming the leading cause of cirrhosis and hepatocellular carcinoma (HCC) and there is a strong familial clustering of severe cases. Considering the high prevalence and the lack of accurate biomarkers, screening for early diagnosis is currently unfeasible. In this project we examine the effectiveness of a “reverse approach” based on the screening of first-degree relatives of patients with advanced NAFLD to identify subjects with progressive disease.

Motivators, barriers and incidence of screening for celiac disease in first degree relatives at 14 years after initial screening

Motivators, barriers and incidence of screening for celiac disease in first degree relatives at 14 years after initial screening

Estimation of Lifetime Risk of Cardiovascular Disease (IBERLIFERISK): A New Tool for Cardiovascular Disease Prevention in Primary Care.

To develop a predictive function of lifetime cardiovascular risk, including morbidity and mortality, in a healthy working population in Spain. Retrospective cohort study. We selected healthy workers, aged 18 to 65 years, with no history of cardiovascular disease, who underwent a health assessment between 2004 and 2007. We used 70% of the cohort to develop the risk equation, and the remaining 30% to validate the equation. Four Cox proportional hazards models were constructed using cardiovascular events and competing events as dependent variables. The same models were replicated for men and women separately. Fatal and nonfatal events were assessed until 2014. A total of 762 054 individuals were selected. The mean age was 35.48 years and 71.14% were men. Significant risk variables in the model included manual occupations, being a smoker or exsmoker, diabetes mellitus, antihypertensive treatment, systolic blood pressure, total cholesterol, high-density lipoprotein cholesterol, and lipid-lowering treatment; in men, the model also included alcohol consumption, body mass index, a family history of early coronary disease in first-degree relatives, renal failure, and diastolic blood pressure. The area under the curve receiver operating characteristic was 0.84 (95%CI, 0.82-0.85) in men and 0.73 (95%CI, 0.66-0.80) in women. Calibration showed underestimation in low-risk deciles and overestimation in high-risk deciles. The new lifetime cardiovascular risk model has satisfactory discrimination and calibration, with better results in men than in women.

Estimación del riesgo cardiovascular de por vida (IBERLIFERISK): una herramienta nueva en prevención primaria de las enfermedades cardiovasculares

Introduction and objectivesTo develop a predictive function of lifetime cardiovascular risk, including morbidity and mortality, in a healthy working population in Spain. MethodsRetrospective cohort study. We selected healthy workers, aged 18 to 65 years, with no history of cardiovascular disease, who underwent a health assessment between 2004 and 2007. We used 70% of the cohort to develop the risk equation, and the remaining 30% to validate the equation. Four Cox proportional hazards models were constructed using cardiovascular events and competing events as dependent variables. The same models were replicated for men and women separately. Fatal and nonfatal events were assessed until 2014. ResultsA total of 762 054 individuals were selected. The mean age was 35.48 years and 71.14% were men. Significant risk variables in the model included manual occupations, being a smoker or exsmoker, diabetes mellitus, antihypertensive treatment, systolic blood pressure, total cholesterol, high-density lipoprotein cholesterol, and lipid-lowering treatment; in men, the model also included alcohol consumption, body mass index, a family history of early coronary disease in first-degree relatives, renal failure, and diastolic blood pressure. The area under the curve receiver operating characteristic was 0.84 (95%CI, 0.82-0.85) in men and 0.73 (95%CI, 0.66-0.80) in women. Calibration showed underestimation in low-risk deciles and overestimation in high-risk deciles. ConclusionsThe new lifetime cardiovascular risk model has satisfactory discrimination and calibration, with better results in men than in women.Full English text available from: www.revespcardiol.org/en

Phenotypic expression variability in Best Disease: a purpose of a series of cases

Abstract The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. The information was collected by assessing medical notes, interviewing the patient and obtaining photographic record of the diagnostic methods to which the patient was submitted. Data was analyzed along with a thorough review of the literature. A series of cases were reported in which the patient presenting the phenotypic characteristics of the disease has first degree relatives without ophthalmic findings during examination, but present an abnormal pattern on the electro-oculogram (EOG). Our article reveals the importance of electrophysiological exams in the diagnosis of Best vitelliform macular dystrophy, including the prevention of its clinical manifestation (autosomal dominant), providing concrete subsidies for genetic counseling.