Search results for "POPULATION"
showing 10 items of 9945 documents
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
2013
Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 PMG patients, and 2,349 controls. Compared to controls, significantly more ACC, but unexpectedly not CBLH or PMG patients, had rare genic CNVs over one megabase (p = 1.48×10−3; odds ratio [OR] = 3.19; 95% confidence interval [CI] = 1.89–5.39). Rare genic CNVs were those that impacted at least one gene in less than 1% of the combined population of patients and controls. Compared to controls, significantly more AC…
Genome-Wide Association Studies of the PR Interval in African Americans.
2011
The PR interval on the electrocardiogram reflects atrial and atrioventricular nodal conduction time. The PR interval is heritable, provides important information about arrhythmia risk, and has been suggested to differ among human races. Genome-wide association (GWA) studies have identified common genetic determinants of the PR interval in individuals of European and Asian ancestry, but there is a general paucity of GWA studies in individuals of African ancestry. We performed GWA studies in African American individuals from four cohorts (n = 6,247) to identify genetic variants associated with PR interval duration. Genotyping was performed using the Affymetrix 6.0 microarray. Imputation was p…
Mortality risk among 5‐year survivors of childhood cancer in Germany—Results from the CVSS study (Cardiac and Vascular late Sequelae in long‐term Sur…
2021
The growing population of long-term childhood cancer survivors is at increased risk for severe, therapy-related late effects and premature mortality. The cardiac and vascular late sequelae in long-term survivors of childhood cancer (CVSS) study is a cohort of patients from Germany diagnosed with a neoplasia prior to 15 years of age in the time period 1980 to 1990. Late mortality was evaluated in a total of 4505 individuals who survived 5 years or more after the initial diagnosis (5-year survivors). Survivors with a second primary tumor were excluded. Standardized mortality ratios (SMRs) were calculated. By December 2014, 400 patients had died. Available cause of death information from 188 i…
Environmental risk factors for sporadic acoustic neuroma (Interphone Study Group, Germany)
2007
The only known risk factor for sporadic acoustic neuroma is high-dose ionising radiation. Environmental exposures, such as radiofrequency electromagnetic fields and noise are under discussion, as well as an association with allergic diseases. We performed a population-based case-control study in Germany investigating these risk factors in 97 cases with acoustic neuroma, aged 30 to 69 years, and in 194 matched controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in multiple logistic regression models. Increased risks were found for exposure to persistent noise (OR=2.31; 95% CI 1.15-4.66), and for hay fever (OR=2.20; 95% CI 1.09-4.45), but not for ionising radiation …
Mid-term trends and recent birth-cohort-dependent changes in incidence rates of cutaneous malignant melanoma in Italy
2020
In Oceania, North America and north-western Europe, after decades of increase, cutaneous malignant melanoma (CMM) rates began to stabilise or decline before 2000. Anecdotal evidence suggests that the reversal of the incidence trend is extending to southern Europe. To obtain a formal confirmation, this nationwide study from Italy investigated the incidence trends by birth cohort. Twenty-one local cancer registries covering a population of 15 814 455 provided incidence data for primary CMM registered between 1994 and 2013. Trends in age-standardised rates were analysed using joinpoint regression models and age-period-cohort models. Age-standardised incidence showed a consistent increase throu…
Time trends and short term projections of cancer prevalence in France
2018
IF 2.888 (2017); International audience; BackgroundThis study analyzes time trends in cancer prevalence in France and provides short-term projections up to the year 2017. The 15-year prevalence for 24 cancers was estimated from the French cancer registries network (FRANCIM) incidence and survival data.MethodWe estimated prevalence using the P = I × S relationship, with flexible modeling of incidence and survival. Based on observations of the incidence and survival up to 2010, different scenarios for evolution up to 2017 were studied, combining stable and dynamic incidence and survival. The determinants of variations in prevalence (incidence, survival and demography) were quantified.ResultsA…
Risk factors for classical Kaposi's sarcoma.
2002
Background: Classical Kaposi's sarcoma (KS) is a malignancy of lymphatic endothelial skin cells. Although all forms of KS are associated with the KS-associated herpesvirus (KSHV), classical KS occurs in a small fraction of KSHV-infected people. We sought to identify risk factors for classical KS in KSHV-infected individuals. Methods: Lifestyle and medical history data from case patients with biopsyproven non-AIDS (non-acquired immunodeficiency syndrome) KS in Italy were compared by logistic regression analysis with data from population-based KSHV-seropositive control subjects of comparable age and sex. After KSHV immunofluorescence testing, randomly selected patients on the rosters of local…
Trends in net survival from rectal cancer in six European Latin countries: results from the SUDCAN population-based study.
2016
Rectal cancer is a common and serious disease. The aim of the SUDCAN collaborative study was to compare the net survival from rectal cancer between six European Latin countries (Belgium, France, Italy, Portugal, Spain, and Switzerland) and provide trends in net survival and dynamics of excess mortality rates up to 5 years after diagnosis. The data were extracted from the EUROCARE-5 database. First, net survival was studied over the period 2000-2004 using the Pohar-Perme estimator. For trend analyses, the study-period was specific to each country. The results are reported from 1992 to 2004 in France, Italy, Spain, and Switzerland and from 2000 to 2004 in Belgium and Portugal. These analyses …
The heterogeneity of changes in incidence and survival among lymphoid malignancies in a 30-year French population-based registry.
2014
Our specialized population-based registry has allowed us to explore changes in incidence and survival by subtype over the last 30 years. Between 1980 and 2009, 4790 cases of lymphoid malignancies were registered using the International Classification of Diseases for Oncology. The incidence rate of lymphoid malignancies was 20.5 per 100,000 inhabitants per year, and ranged from 0.1 to 4 according to subtype. Five-year net survival was 65%, and ranged from 41% to 93% according to subtype. We observed an increase in 5-year net survival between the periods 1980-1989 and 2000-2009 (58% vs. 70%). This was observed in most but not all subtypes. Our long-standing population-based registry allowed u…
Incidence of chronic myeloid leukemia and patient survival: results of five French population-based cancer registries 1980-2009.
2014
The treatment of chronic myeloid leukemia (CML) has seen several major advances over the past 30 years, notably with the introduction of interferon followed by Bcr-Abl tyrosine kinase inhibitors. We analyzed trends in the incidence of CML and patient survival in France. All cases recorded in five population-based registries between 1980 and 2009 were included. European (ESR) and world (WSR) standardized incidence rates as well as relative survival (RS) rates were estimated. We analyzed data for 781 patients (9863/3: 13.6%; 9875/3: 82.2%; 9876/3: 4.2%). ESR was 1.02 [95% confidence interval (CI) = 0.93-1.11] and WSR was 0.81 [95% CI = 0.72-0.90]. The five RS rates among patients with Philade…