General Population Control Research Articles

Radiographic indices for lumbar developmental spinal stenosis

BackgroundPatients with developmental spinal stenosis (DSS) are susceptible to developing symptomatic stenosis due to pre-existing narrowed spinal canals. DSS has been previously defined by MRI via the axial anteroposterior (AP) bony spinal canal diameter. However, MRI is hardly a cost-efficient tool for screening patients. X-rays are superior due to its availability and cost, but currently, there is no definition of DSS based on plain radiographs. Thus, the aim of this study is to develop radiographic indices for diagnosing DSS.MethodsThis was a prospective cohort of 148 subjects consisting of patients undergoing surgery for lumbar spinal stenosis (patient group) and asymptomatic subjects recruited openly from the general population (control group). Ethics approval was obtained from the local institutional review board. All subjects underwent MRI for diagnosing DSS and radiographs for measuring parameters used for creating the indices. All measurements were performed by two independent investigators, blinded to patient details. Intra- and interobserver reliability analyses were conducted, and only parameters with near perfect intraclass correlation underwent receiver operating characteristic (ROC) analysis to determine the cutoff values for diagnosing DSS using radiographs.ResultsImaging parameters from a total of 66 subjects from the patient group and 82 asymptomatic subjects in the control group were used for analysis. ROC analysis suggested sagittal vertebral body width to pedicle width ratio (SBW:PW) as having the strongest sensitivity and specificity for diagnosing DSS. Cutoff indices for SBW:PW were level-specific: L1 (2.0), L2 (2.0), L3 (2.2), L4 (2.2), L5 (2.5), and S1 (2.8).ConclusionsThis is the first study to define DSS on plain radiographs based on comparisons between a clinically relevant patient group and a control group. Individuals with DSS can be identified by a simple radiograph using a screening tool allowing for better cost-saving means for clinical diagnosis or research purposes.

Differences between personality traits of convicted and non-convicted persons: The Hexaco model of personality as a framework

The aim of this study was to determine the significance of differences in personality traits between convicted and unconvicted persons in order to identify the individual characteristics which make the 'offender' different from people who don't commit an offence. The sample of this study is adequate and consists of 65 interviewees of Banja Luka Prison (test group) and 65 interviewees of general population (control group). We applied the HEXACO - 60 scale (Lee & Ashton, 2009) to examine differences in personality between offenders and nonoffenders. Criminal offenders differed from nonoffenders on three of the six dimensions of personality proposed by the HEXACO model. Compared to nonoffenders, offenders scored higher on the dimension Openness to experience and on its facet aesthetic appreciation. Conversely, results indicated that the offenders compared to nonoffenders scored lower on the dimension Honesty-Humility and on its facets sincerity and fairness, and on the dimension Agreeableness and on its facet forgiveness.

Predictors of satisfaction in patient with silicone breast implants and its association with drug intake habits

Background: Satisfaction is an important outcome variable in surgical success. The purpose of this study is to evaluate predictors of satisfaction in women submitted to silicone textured breast implant surgery.Methods: A retrospective evaluation of women receiving textured silicone breast implants was performed. Patients were divided in four groups: cosmetic cohort (n = 104), reconstructive cohort (n = 120), general population control cohort (n = 120) and aesthetic control cohort (n = 54). Data were collected based on information retrieved from patient records, a planned consultation and a self-administered structured questionnaire.Results: Patient satisfaction was influenced by preoperative information (p = .007), cohort (p < .001), and occurrence of postoperative complications (p < .001). The degree of satisfaction was also related with drug intake habits: women using psychotropic drugs were 3-fold more likely to report poor satisfaction than those that never used these drugs (p < .001).Conclusion: The purpose of the surgery, preoperative information and the occurrence of postoperative complications have an impact on the degree of satisfaction of women submitted to silicone breast implant surgery. Women using psychotropic drugs are more likely to report poor satisfaction.

Genetics of ion homeostasis in Ménière's Disease.

Aim of this work was to assess the role of polymorphisms belonging to genes involved in the regulation of ionic homeostasis in Caucasian patients with Ménière Disease (MD). We recruited 155 patients with definite Ménière Disease and 186 controls (Control Group 1) without a lifetime history of vertigo, overlapping with patients for age and rate of hypertension. We validated the positive results on 413 Caucasian subjects selected from a European general population (Control Group 2). The clinical history for migraine and hypertension was collected; genomic DNA was characterized for a panel of 33 SNPs encoding proteins involved in ionic transport. We found a higher rate of migraineurs in MD subjects compared to Group 1 (46.8 vs 15.5%, p=0.00005). Four SNPs displayed differences in MD patients compared to Group 1 controls: rs3746951 and rs2838301 in SIK1 gene, rs434082 and rs487119 in SLC8A1; the p values of Chi-squared test for genotype frequencies are 0.009, 0.023, 0.009 and 0.048, respectively. SLC8A1 gene encodes for Na+-Ca++ exchanger, while SIK1 gene encodes for Salt Inducible Kinase 1, an enzyme associated with Na+-K+ ATPase function. The validation with Control Group 2 displayed that only rs3746951 and rs487119 are strongly associated to MD (p=0.001 and p=0.0004, respectively). These data support the hypothesis that a genetically induced dysfunction of ionic transport may act as a predisposing factors to develop MD.

PRM191 - Watch Out for Berkson's Bias (BB)! Setting Health-Related Quality of Life (HRQOL) Treatment Targets with Matching-Adjusted Indirect Comparison (MAIC) in Order to Predict Matched General Population Control (MGPC) Targets, Assess Potential to Benefit (PTB) and Reveal Unmet Medical Need (UMN)

PRM191 - Watch Out for Berkson's Bias (BB)! Setting Health-Related Quality of Life (HRQOL) Treatment Targets with Matching-Adjusted Indirect Comparison (MAIC) in Order to Predict Matched General Population Control (MGPC) Targets, Assess Potential to Benefit (PTB) and Reveal Unmet Medical Need (UMN)

Occupational exposure to phthalates in relation to gender, consumer practices and body composition.

The aim of our work was to find associations between urinary phthalate metabolite concentrations and occupation, consumer practices and body composition. We divided our cohort (n=129) into occupationally exposed subjects, community service workers (group A; n=45) and workers from plastic industry (group B; n=35) and group of general population (control group C, n=49). To estimate levels of five phthalate metabolites, we used high-performance liquid chromatography and tandem mass spectrometry analysis. We found in plastic industry workers compared to community service workers and subjects of the control group significantly higher urinary concentration mono (2-ethyl-5-hydroxyhexyl) phthalate (MEHHP), mono (2-ethyl-5-oxohexyl) phthalate (MEOHP), mono (2-etylhexyl) phthalate (MEHP), sum di-(2-ethyl-5-oxohexyl) phthalate (DEHP), mono-iso-butyl phthalate (MiBP) and mono-n-butyl phthalate (MnBP). We identified by multivariate analysis of covariance inverse relationship between MEHP and body parameters as waist-to-height ratio, body mass index, waist-to-hip ratio, hip circumference and waist circumference among females, whereas in males, no significant association was found. Results of our study show, despite of variability in terms of occupational exposure to phthalates, that plastic manufactory represents a higher occupational risk in comparison with waste management. The differences in anthropometric parameters between the two occupationally exposed groups and the general population are suggesting a detrimental effect of occupational exposure on body weight homeostasis.

The prevalence of cardiovascular disease in non-communicating hydrocephalus

ObjectiveHydrocephalus (HC) caused by blockade of ventricular cerebrospinal fluid (CSF) pathways is denoted non-communicating HC. One issue not previously addressed is how the prevalence of cardiovascular disease compares between patients with non-communicating HC and the general population. MethodsWe examined whether the prevalence of cardiovascular disease (arterial hypertension, angina pectoris, cardiac infarction, and diabetes) differed between cases with non-communicating HC and a general control population, represented by participants of the North-Trøndelag Health 3 Survey (The HUNT3 Survey). A second control group consisted of patients with communicating hydrocephalus (idiopathic normal pressure hydrocephalus, iNPH). ResultsThe study included 50 cases with non-communicating HC (53.4+10.5years), and two control cohorts: 35,413 participants of the HUNT3 Survey (52.8+9.6years), and 176 iNPH patients (61.2+8.3years). All individuals were aged 35–70 years. Among the non-communicating HC patients, the results showed increased prevalence for arterial hypertension (males), cardiac infarction (females), and diabetes (females), as compared with the HUNT3 control group with significant odds ratio estimates. However, the prevalence of cardiovascular disease did not significantly differ between patients with non-communicating HC or iNPH. In patients with either non-communicating HC or iNPH and elevated pulsatile intracranial pressure (ICP) during overnight monitoring, the prevalence of diabetes was increased. ConclusionThis study showed significantly increased prevalence of cardiovascular disease in non-communicating HC, indicating an association between cardiovascular disease and the development of non-communicating HC. Further, diabetes was associated with abnormal pulsatile ICP in both non-communicating HC and iNPH patients.

Allelic polymorphism C-590T of the IL4 gene as a probable genetic marker for the increased predisposition to the development of recurrent episodes of acute obstructive bronchitis in children

Acute respiratory infections (ARIs) hold the first place among all infections throughout the world. ARIs are frequently complicated by the development of acute obstructive bronchitis (AOB). According to different authors, the frequency of developing AOB due to ARIs in children ranges from 5 to 40%. The growing occurrences of ARIs in children and the formation of bronchoobstructive syndrome that frequently ends up in the development of bronchial asthma, leading children to invalidity, specify a new priority research area—molecular genetic markers sought for to identify an increased predisposition to certain socially important illnesses. The molecular-genetic testing of the polymorphic C-590T locus of the IL4 gene as the marker of increased predisposition to the development of recurrent episodes of AOB were conducted in 31 children with frequent ARIs and recurrent episodes of AOB and in 50 general-population control subjects. The level of IgE in the blood serum was studied in 31 children with frequent recurrent episodes of AOB and compared with the data of 35 control children with acute bronchitis. The comparative molecular genetic analysis of the results in children with recurrent episodes of AOB and the data obtained from the subjects of a general population control group has shown that the frequency of the CT genotype at the polymorphic C-590T locus of the IL4 gene was noticeably higher in children with recurrent AOB episodes. The markedly higher frequency of the CC genotype at the polymorphic C-590T locus of the IL4 gene was recorded in the control group subjects and compared to the data of children from the main group. It was established that carrying the 590 CT genotype with the allelic polymorphism of the IL4 gene increases the risk of recurrent episodes of AOB in children by three times. The level of IgE in the blood serum in the majority of sick children from the main group was four times higher than in the control children.

CYP4F2 (rs2108622) Gene Polymorphism Association with Age-Related Macular Degeneration.

Background. Age-related macular degeneration is the leading cause of blindness in elderly individuals where aetiology and pathophysiology of age-related macular degeneration are not absolutely clear. Purpose. To determine the frequency of the genotype of rs2108622 in patients with early and exudative age-related macular degeneration. Methods. The study enrolled 190 patients with early age-related macular degeneration, 181 patients with exudative age-related macular degeneration (eAMD), and a random sample of 210 subjects from the general population (control group). The genotyping of rs2108622 was carried out using the real-time polymerase chain reaction method. Results. The analysis of rs2108622 gene polymorphism did not reveal any differences in the distribution of C/C, C/T, and T/T genotypes between the early AMD group, the eAMD group, and the control group. The CYP4F2 (1347C>T) T/T genotype was more frequent in males with eAMD compared to females (10.2% versus 0.8%; p = 0.0052); also T/T genotype was less frequently present in eAMD females compared to healthy control females (0.8% versus 6.2%; p = 0.027). Conclusion. Rs2108622 gene polymorphism had no predominant effect on the development of early AMD and eAMD. The T/T genotype was more frequent in males with eAMD compared to females and less frequently present in eAMD females compared to healthy females.

Incidence of stroke and seizure in Alzheimer's disease dementia.

the objective of the study was to estimate and compare the incidence rates of ischaemic and haemorrhagic stroke and seizure among cohorts with and without Alzheimer's disease (AD) dementia. we conducted a retrospective cohort study using electronic medical records (EMRs) from primary care practices that participated in The Health Improvement Network (THIN) in the United Kingdom from 1 January 1990 to 31 July 2009. For each AD-dementia patient, we selected one general population control patient without AD-dementia matched to one AD-dementia patient on year of birth, sex and physician practice. the AD-dementia cohorts were 68% female and averaged 80 years of age at the start of follow-up. Populations for analysis included 19,902 AD-dementia and matched non-AD-dementia patients with no history of stroke at baseline in which 790 incident cases of stroke occurred, and similarly, 22,084 AD-dementia and matched patients with no history of seizure at baseline in which 286 cases of seizure occurred. After adjusting for risk factors for each outcome, hazard ratios comparing AD-dementia with non-AD-dementia patients indicated higher rates among AD-dementia patients for stroke (HR = 1.29, 95% CI 1.11, 1.50) and seizure (HR = 5.31, 95% CI 3.97, 7.10). For stroke and seizure, the incidence rate ratios comparing AD-dementia patients with non-AD-dementia controls were greatest for the younger age groups. AD-dementia was observed to be a risk factor for both haemorrhagic stroke and seizures. Increasing age was associated with a decrease in relative risk and an increase in absolute risk.

Association Between Statin Use and Uveitis: Results From the Pacific Ocular Inflammation Study

To assess whether there is a protective association between statin use and uveitis diagnosis. Retrospective, population-based case-control study. Medical records of all patients in the Kaiser Permanente Hawaii health plan between January 1, 2006 and December 31, 2007 (N= 217 061) were searched electronically for International Classification of Diseases, 9th Revision, diagnosis codes related to uveitis. Chart review was done to confirm incident uveitis diagnosis during the study period. Two control groups were each randomly selected at a 5:1 ratio to cases, and controls were assigned an index date to match their respective case diagnosis date. One control group was selected from the general Kaiser Permanente Hawaii population that had at least 1 healthcare visit during the study period. Another control group was selected from the population of Kaiser Permanente Hawaii members who had at least 1 visit to the ophthalmology clinic during the study period. Statin use was defined as filling a prescription for statin medication in the year prior to the diagnosis or index date based on an electronic search of the Kaiser Permanente Hawaii pharmacy database for Generic Product Identification codes. A conditional logistic regression model with clinical diagnosis of uveitis as the outcome was used to assess the relationship between statin use and uveitis. One hundred eight incident cases of uveitis were identified. Nineteen percent of uveitis patients had used statin medication in the year prior to diagnosis compared to 30% of patients in the general Kaiser population control (P= .03) and 38% of patients in the ophthalmology clinic control (P < .001). Using the general Kaiser population control and adjusting for age, sex, race, and autoimmune diseases, the odds of a statin user developing uveitis were 48% less than the odds of a non-statin user developing uveitis (OR: 0.52, 95% CI: 0.29-0.94, P= .03). Similarly, the odds of developing uveitis were 33% less for statin users compared to non-statin users (OR: 0.67, 95% CI: 0.38-1.19, P= .17) when adjusting for these factors and using the ophthalmology clinic control group. Statin use may be protective against the development of uveitis. Several anti-inflammatory and immunomodulatory mechanisms may explain this association.

Evaluation of the facial dimensions of young adult women with a preferred facial appearance.

ObjectiveThe aim of this study was to evaluate the facial dimensions of young adult women with a preferred facial appearance and compare the results with those from the general population.MethodsTwenty-five linear, nine angular, and three area measurements were made and four ratios were calculated using a sample of standardized frontal and lateral photographs of 46 young adult women with a preferred facial appearance (Miss Korea group) and 44 young adult women from the general population (control group). Differences between the two groups were analyzed using multivariate analysis of variance (MANOVA).ResultsCompared with the control group, the Miss Korea group exhibited a significantly greater facial height, total facial height (TFH; trichion-menton), facial width (tragus right-tragus left), facial depth (tragus-true vertical line), and trichion-nasion/TFH ratio and smaller subnasale-menton/TFH and facial width/TFH ratios. Furthermore, the control group had smaller intercanthal and interpupillary widths.ConclusionsThe Miss Korea group exhibited longer, wider, and deeper faces compared with those from the general population. Furthermore, the Miss Korea group had larger eyes, longer but less protruded noses, longer and more retruded lower lips and chins, larger lip vermilion areas, and smaller labiomental angles. These results suggest that the latest trends in facial esthetics should be considered during diagnosis and treatment planning for young women with dentofacial abnormalities.

Risk Factors for Cardiovascular Disease in People With Idiopathic Pulmonary Fibrosis

People with idiopathic pulmonary fibrosis (IPF) have been shown to be at an increased risk for cardiovascular (CV) disease, but reasons for this are unknown. The aim of this study was to compare the prevalence of common CV risk factors in people with IPF and the general population and establish the incidence of ischemic heart disease (IHD) and stroke after the diagnosis of IPF, controlling for these risk factors. We used data from a large, UK primary care database to identify incident cases of IPF and matched general-population control subjects. We compared the prevalence of risk factors for CV disease and prescription of CV medications in people with IPF (before diagnosis) with control subjects from the general population and assessed the incidence of IHD and stroke in people with IPF (after diagnosis) compared with control subjects. We identified 3,211 cases of IPF and 12,307 control subjects. Patients with IPF were more likely to have a record of hypertension (OR, 1.31; 95% CI, 1.19-1.44), and diabetes (OR, 1.20; 95% CI, 1.07-1.34) compared with control subjects; they were also more likely to have been prescribed several CV drugs. The rate of first-time IHD events was more than twice as high in patients than control subjects (rate ratio, 2.32; 95% CI, 1.85-2.93; P < .001), but the incidence of stroke was only marginally higher (P = .09). Rate ratios for IHD and stroke were not altered substantially after adjusting for CV risk factors. Several CV risk factors were more prevalent in people with IPF; however, this did not account for the increased rate of IHD in this group of patients.

Development of the NIH Patient-Reported Outcomes Measurement Information System (PROMIS) gastrointestinal symptom scales.

The National Institutes of Health (NIH) Patient-Reported Outcomes Measurement Information System (PROMIS(®)) is a standardized set of patient-reported outcomes (PROs) that cover physical, mental, and social health. The aim of this study was to develop the NIH PROMIS gastrointestinal (GI) symptom measures. We first conducted a systematic literature review to develop a broad conceptual model of GI symptoms. We complemented the review with 12 focus groups including 102 GI patients. We developed PROMIS items based on the literature and input from the focus groups followed by cognitive debriefing in 28 patients. We administered the items to diverse GI patients (irritable bowel syndrome (IBS), inflammatory bowel disease (IBD), systemic sclerosis (SSc), and other common GI disorders) and a census-based US general population (GP) control sample. We created scales based on confirmatory factor analyses and item response theory modeling, and evaluated the scales for reliability and validity. A total of 102 items were developed and administered to 865 patients with GI conditions and 1,177 GP participants. Factor analyses provided support for eight scales: gastroesophageal reflux (13 items), disrupted swallowing (7 items), diarrhea (5 items), bowel incontinence/soilage (4 items), nausea and vomiting (4 items), constipation (9 items), belly pain (6 items), and gas/bloat/flatulence (12 items). The scales correlated significantly with both generic and disease-targeted legacy instruments, and demonstrate evidence of reliability. Using the NIH PROMIS framework, we developed eight GI symptom scales that can now be used for clinical care and research across the full range of GI disorders.

The sense-of-coherence predicts health-related quality of life and emotional distress but not disability in Parkinson's disease.

BackgroundPersonality traits are deemed important in many fields of Medicine. The present study aimed at evaluating i) the presence of Sense-of-Coherence (SOC) in patients suffering from Parkinson’s Disease (PD) in comparison with an age-matched general control population, ii) the influence of SOC on health-related variables, such as depression and anxiety, quality of life (Qol), and activities of daily living (ADL).MethodsSOC was measured in 50 PD patients and in 50 matched controls enrolled in cross-sectional study. The other clinical measures included: Mini Mental State Examination (MMSE), Movement Disorder Society revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Well-being Index (WHO-5), Hospital Anxiety and Depression Scale (HADS) and the Barthel Index of ADL (BI). Data were analysed with univariate statistics and loglinear adjusted regression models.ResultsNo difference emerged between PD and controls on socio-demographic and SOC. A statistically significant positive correlation was found between SOC and Qol (0.40, p < 0.004) and a negative significant correlation between SOC and emotional distress (−0.37, p < 0.008). The multivariate regression analysis confirmed the negative effect of SOC on total emotional distress (−3%, p = 0.01) and positive effect on Qol (2%, p = 0.01). SOC and BI were uncorrelated.ConclusionsSOC is predictive of QoL and emotional distress in PD, whereas no evidence of a predictive effect for disability could be found. These results support only partially, the Salutogenic Theory in PD, i.e. a strong SOC positively influences psychosocial health, but does not influence physical health.

Sexuality in adolescent boys with autism spectrum disorder: self-reported behaviours and attitudes.

Differences in sexual functioning of adolescents with and without autism spectrum disorder (ASD) are understudied. In the current study, self-reported sexual behaviours, interests and attitudes of 50 adolescent boys, aged 15-18, with at least average intelligence and diagnosed with ASD, were compared with a matched general population control group of 90 boys. Results demonstrated substantial similarity between the groups in terms of sexual behaviours. The only significant difference was that boys with ASD reacted more tolerant towards homosexuality compared to the control group. Results reveal that sexuality is a normative part of adolescent development in high-functioning boys with ASD. Hence, attention should be given to this topic in education and mental health care.

General health status and late effects among adolescent and young adult survivors of childhood cancer in Japan.

We sought to investigate general health status and late effects among adolescent and young adult survivors of childhood cancer. We conducted a cross-sectional survey, using self-rated questionnaires on current and past health problems. Questionnaires were provided to childhood cancer survivors, a comparison group of siblings and a general population control group that was recruited online. χ(2) tests were used to compare responses to the 72 survey items. The final sample included 185 childhood cancer survivors (72% response rate), 72 siblings and 1000 general population controls. In the childhood cancer survivors group, the median age of diagnosis was 8 years and the median age at survey was 23 years. According to the physicians' reports, 56% of the childhood cancer survivors experienced at least one late effect. In descending order of prevalence, the current symptoms in the childhood cancer survivors group were (i) impaired visual acuity (45%), (ii) dizziness (36%) and (iii) any allergy (34%). The three most common symptoms had similar prevalence rates in each of the groups. As compared with the control group, the following physical symptoms were significantly more common in the childhood cancer survivors group: mental retardation (odds ratio: 48.6, P < 0.01); cataract (odds ratio: 29.7); suspected infertility (odds ratio: 25.1); delayed puberty (odds ratio 24.9); growth hormone deficiency (odds ratio: 23.0); and other audiovisual, urinary, endocrine, infertility, cardiovascular, respiratory, gastrointestinal, spinal, extremity and neuromuscular problems. Many adolescent/young adult childhood cancer survivors could be suffering from ongoing late effects that stem from cancer and its treatment. Overall health monitoring for childhood cancer survivors can provide indispensable benefits.

Assessment of genetic associations between common single nucleotide polymorphisms in RIG-I-like receptor and IL-4 signaling genes and severe respiratory syncytial virus infection in children: a candidate gene case-control study.

The majority of cases of severe pediatric respiratory syncytial virus (RSV) infection occur in otherwise healthy infants who have no identifiable risk factors, suggesting that additional subclinical factors, such as population genetic variation, influence the course of RSV infection. The objective of this study was to test if common single nucleotide polymorphisms (SNPs) in genes encoding for immune signalling components of the RIG-I-like receptor (RLR) and IL-4-signalling pathways affect the outcome of RSV infection in early life. We genotyped 8 SNPs using allele-specific probes combined with real-time PCR. Each of the SNPs tested had previously been established to have a functional impact on immune responsiveness and two of the SNPs in the IL4 and IL4R genes had previously been associated with severe RSV bronchiolitis. Association with susceptibility to severe RSV infection was tested by statistically comparing genotype and allele frequencies in infants and young children hospitalized with severe RSV bronchiolitis (n = 140) with two control groups—children who tested positive for RSV but did not require hospitalization (n = 100), and a general population control group (n = 285). Our study was designed with sufficient power (>80%) to detect clinically-relevant associations with effect sizes ≥1.5. However, we detected no statistically significant differences in allele and genotype frequencies of the investigated SNPs between the inpatient and control groups. To conclude, we could not replicate the previously reported association with SNPs in the IL4 and IL4R genes in our independent cohort, nor did we find that common SNPs in genes encoding for RLRs and the downstream adapter MAVS were associated with susceptibility to severe RSV infections. Despite the existing evidence demonstrating a functional immunological impact of these SNPs, our data suggest that the biological effect of each individual SNP is unlikely to affect clinical outcomes of RSV infection.

Angiotensin-converting enzyme gene polymorphism in autosomal dominant polycystic kidney disease

Abstract Background and aim : Autosomal dominant polycystic kidney disease shows considerable variability in clinical features, including differences in severity of hypertension, rate of decline of renal function and variability in rate of cystogenesis, which are not fully explained by the genetic heterogeneity of this disease. Many different modifier variables have been proposed to explain this variability. This study aims to look at the role played by polymorphism of the ACE gene as a possible modifier in the clinical course and rapidity of progression. Material and Methods : Thirty seven patients diagnosed as ADPKD were recruited to the study. Clinical data were provided by questionnaires. Blood was collected for the determination of the ACE Insertion/Deletion (I/D) polymorphism genotype. The ACE genotype was also determined in a general control population (n = 40). The data was analyzed using the SPSS software. ACE genotype polymorphism frequencies were compared across groups using the one-way ANOVA tests. λ2 cross tabulation statistics was used to test for difference between frequency data. Results: The ACE genotype distribution showed no differences between the study (II 29.7%, ID 43.2%, DD 27.1%) and the control (II 35%, ID 45%, DD 20%) populations. Although patients on hemodialysis had a significantly higher Blood Pressure levels (p = 0.004) when compared to non-dialysis patients, no significant differences were demonstrated between genotypes of the study population. No difference was also demonstrated between the genotypes for rate of decline in renal function. Conclusion : No relationship between the ACE I/D polymorphism in ADPKD patients and severity of hypertension or progression towards ESRD was demonstrated.

Fracture risk in hepatitis C virus infected persons: Results from the DANVIR cohort study

The association between Hepatitis C virus (HCV)-infection and fracture risk is not well characterized. We compared fracture risk between HCV-seropositive (HCV-exposed) patients and the general population and between patients with cleared and chronic HCV-infection. Outcome measures were time to first fracture at any site, time to first low-energy and first non-low-energy (other) fracture in 12,013 HCV-exposed patients from the DANVIR cohort compared with a general population control cohort (n=60,065) matched by sex and age. Within DANVIR, 4500 patients with chronic HCV-infection and 2656 patients with cleared HCV-infection were studied. Compared with population controls, HCV-exposed patients had increased overall risk of fracture [adjusted incidence rate ratio (aIRR) 2.15, 95% Confidence Interval (CI) 2.03-2.28], increased risk of low-energy fracture (aIRR 2.13, 95% CI: 1.93-2.35) and of other fracture (aIRR 2.18, 95% CI: 2.02-2.34). Compared with cleared HCV-infection, chronic HCV-infection was not associated with increased risk of fracture at any site (aIRR 1.08, 95% CI: 0.97-1.20), or other fracture (aIRR 1.04, 95% CI: 0.91-1.19). The aIRR for low-energy fracture was 1.20 (95% CI: 0.99-1.44). HCV-exposed patients had increased risk of all fracture types. In contrast, overall risk of fracture did not differ between patients with chronic vs. cleared HCV-infection, although chronic HCV-infection might be associated with a small excess risk of low-energy fractures. Our study suggests that fracture risk in HCV-infected patients is multi-factorial and mainly determined by lifestyle-related factors associated with HCV-exposure.