Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 AAG repeats (full penetrance), but the sequence of pathogenic and non-pathogenic expansions remains unexplored. Here, we demonstrate that STRling and ExpansionHunter accurately detect FGF14 expansions from short-read genome data using outlier approaches. By combining long-range PCR and nanopore sequencing in 169 patients with cerebellar ataxia and 802 controls, we compare FGF14 expansion alleles, including interruptions and flanking regions.

Aggregation of type-2 diabetes, prediabetes, and metabolic syndrome in German couples.

We aimed to examine the concordance of type-2 diabetes, prediabetes and the metabolic syndrome in couples. In cross-sectional analyses, we used data from 1173 couples with index persons from the Heinz Nixdorf Recall Study (2011-2015), a population-based cohort study in Western Germany, and partners from the associated Heinz Nixdorf Multigeneration Study (2013-2016). Mean age (standard deviation) was 67.

Early Postoperative Complications of One-Stage Substitution Urethroplasty with Oral Mucosa Graft: A Monocentric Retrospective Study.

Introduction: We report early postoperative complications (PCs) (≤90 days) of one-stage oral mucosa graft (OMG) urethroplasty in treatment of acquired anterior urethral strictures.

Material And Methods: In this study, we evaluated 530 males who underwent one-stage substitution urethroplasty (SU) between September 1996 and October 2020. Medical records were reviewed to identify and classify early PCs based on the Clavien-Dindo classification (CDC).

Blood Kallikrein-8 and Non-Amnestic Mild Cognitive Impairment: An Exploratory Study.

Background: Blood kallikrein-8 is supposed to be a biomarker for mild cognitive impairment (MCI) due to Alzheimer's disease (AD), a precursor of AD dementia. Little is known about the association of kallikrein-8 and non-AD type dementias.

Objective: To investigate whether blood kallikrein-8 is elevated in individuals with non-amnestic MCI (naMCI), which has a higher probability to progress to a non-AD type dementia, compared with cognitively unimpaired (CU) controls.

Cross-sectional analysis of pulsatile hemodynamics across the adult life span: reference values, healthy and early vascular aging: the Heinz Nixdorf Recall and the MultiGeneration Study.

Background: Pulsatile hemodynamics predict major cardiovascular events. We aimed to provide comprehensive population-based reference values and to compare different measures of pulsatile hemodynamics to define early vascular aging (EVA) as well as healthy vascular aging (HVA).

Methods: In 2721 participants from the population-based Heinz Nixdorf Recall Study and the associated MultiGeneration Study, free from diabetes, cardiovascular disease, and antihypertensive drugs, we performed high-fidelity radial tonometry, calibrated waveforms with brachial blood pressures and processed them with a validated transfer function, pulse wave analysis, and wave separation analysis.

Experience with One-Stage Repair of Urethral Strictures Using the Augmented Anastomotic Repair Technique.

Introduction: We report the results of augmented anastomotic repair (AAR) in the treatment of anterior urethral strictures.

Material And Methods: In this retrospective study, we evaluated 71 consecutive patients who had undergone AAR between June 2004 and June 2013. Medical records were reviewed to identify early postoperative complications based on the Clavien-Dindo classification (CDC).

Value of Progression of Coronary Artery Calcification for Risk Prediction of Coronary and Cardiovascular Events: Result of the HNR Study (Heinz Nixdorf Recall).

Background: Computed tomography (CT) allows estimation of coronary artery calcium (CAC) progression. We evaluated several progression algorithms in our unselected, population-based cohort for risk prediction of coronary and cardiovascular events.

Methods: In 3281 participants (45-74 years of age), free from cardiovascular disease until the second visit, risk factors, and CTs at baseline (b) and after a mean of 5.

Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.

The present study investigated the genetic contribution to alcohol dependence (AD) using genome-wide association data from three German samples. These comprised patients with: (i) AD; (ii) chronic alcoholic pancreatitis (ACP); and (iii) alcohol-related liver cirrhosis (ALC). Single marker, gene-based, and pathway analyses were conducted.

Accelerated progression of coronary artery calcification in hypertension but also prehypertension.

Objective: To determine the role of hypertension for coronary artery calcification (CAC) progression.

Methods: The population-based Heinz Nixdorf Recall study recruited 4814 participants from a German urban population in 2000-2003. CAC was measured using electron-beam computed tomography at baseline and after 5 years.

Noncoronary Measures Enhance the Predictive Value of Cardiac CT Above Traditional Risk Factors and CAC Score in the General Population.

Objectives: The aim of this study was to determine whether noncoronary measures from cardiac computed tomography (CT) may enhance the prognostic value of this imaging technology.

Background: When cardiac CT is performed for quantification of coronary artery calcium (CAC) score, information on other cardiac and thoracic structures is available.

Methods: Participants without known cardiovascular disease from the prospective population based Heinz Nixdorf Recall study underwent noncontrast cardiac CT for CAC score quantification.

Resting heart rate is an independent predictor of all-cause mortality in the middle aged general population.

Background: High resting heart rate (RHR) predicts cardiovascular outcomes in patients with vascular disease and heart failure. We evaluated the prognostic value of RHR in a large contemporary population-based, prospective cohort of individuals without known coronary artery disease.

Methods And Results: Resting heart rate (RHR) was determined in 4091 individuals (mean age 59.

Progression of coronary artery calcification seems to be inevitable, but predictable - results of the Heinz Nixdorf Recall (HNR) study.

Aim: Coronary artery calcification (CAC), as a sign of atherosclerosis, can be detected and progression quantified using computed tomography (CT). We develop a tool for predicting CAC progression.

Methods And Results: In 3481 participants (45-74 years, 53.

Effect of smoking and other traditional risk factors on the onset of coronary artery calcification: results of the Heinz Nixdorf recall study.

Background: Coronary artery calcium (CAC) indicates coronary atherosclerosis and can be present in very early stages of the disease. The conversion from no CAC to any CAC reflects an important step of the disease process as cardiovascular risk is increased in persons even with mildly elevated CAC. We sought to identify risk factors that determined incident CAC>0 in men and women from an unselected general population with a special focus on the role of smoking.

Association of obstructive sleep apnoea with subclinical coronary atherosclerosis.

Background: Accumulating evidence suggests a role of obstructive sleep apnoea (OSA) as a risk factor for coronary atherosclerosis. This study aimed i) to assess the prevalence of OSA in the general population and ii) to analyse the association of this disorder with traditional cardiovascular disease risk factors and subclinical coronary atherosclerosis.

Methods: In a cross-sectional analysis of the Heinz Nixdorf Recall study a subgroup of 1604 subjects (791 men, age 50-80 years) underwent OSA screening.

Coronary atherosclerosis burden, but not transient troponin elevation, predicts long-term outcome in recreational marathon runners.

We determined the prognostic value of transient increases in high-sensitive serum troponin I (hsTnI) during a marathon and its association with traditional cardiovascular risk factors and imaging-based risk markers for incident coronary events and all-cause mortality in recreational marathon runners. Baseline data of 108 marathon runners, 864 age-matched controls and 216 age- and risk factor-matched controls from the general population were recorded and their coronary event rates and all-cause mortality after 6 ± 1 years determined. hsTnI was measured in 74 marathon finishers before and after the race.

Comparison of early postoperative morbidity after robot-assisted and open radical cystectomy: results of a prospective observational study.

Objective: To evaluate early postoperative morbidity in patients undergoing either robot-assisted (RARC) or open radical cystectomy (ORC) for bladder cancer.

Patients And Methods: A total of 100 patients underwent RARC (between August 2009 and August 2012) and 42 underwent ORC (between October 2007 and July 2009) as treatment for bladder cancer. Data on the patients' peri-operative course were collected prospectively up to the 90th postoperative day for the RARC group and up to the 60th postoperative day for the ORC group.

Does changeover by an experienced open prostatic surgeon from open retropubic to robot-assisted laparoscopic prostatectomy mean a step forward or backward?

We assessed whether changeover from open retropubic [RRP] to robotic-assisted laparoscopic prostatectomy [RALP] means a step forward or backward for the initial RALP patients. Therefore the first 105 RALPs of an experienced open prostatic surgeon and robotic novice-with tutoring in the initial 25 cases-were compared to the most recent 105 RRPs of the same surgeon. The groups were comparable with respect to patient characteristics and postoperative tumor characteristics (all P > 0.

Tumour characteristics, oncological and functional outcomes in patients aged ≥ 70 years undergoing radical prostatectomy.

Unlabelled: Study Type - Therapy (case series) Level of Evidence 4 What's known on the subject? and What does the study add? The marked increase in life expectancy in recent years calls for reconsideration of the decision-making process for the treatment of prostate cancer, a condition particularly affecting the elderly. To date the general approach in elderly patients has tended to be more conservative, not least as it is generally thought that prostate cancer in these patients is less biologically aggressive. The present data showed that patients aged ≥70 years had biologically more aggressive tumours significantly more often than those aged <70 years.

Subclinical coronary atherosclerosis predicts cardiovascular risk in different stages of hypertension: result of the Heinz Nixdorf Recall Study.

Prehypertension is a frequent condition and has been demonstrated to increase cardiovascular risk. However, the association with coronary atherosclerosis as part of target organ damage is not well understood. We investigated the cross-sectional relationship and longitudinal outcome between blood pressure categories and coronary artery calcification (CAC), quantified by electron beam computed tomography, in 4181 participants from the population-based Heinz Nixdorf Recall Study cohort.

Cardiovascular risk factors in patients with uncontrolled and long-term acromegaly: comparison with matched data from the general population and the effect of disease control.

Context: Data on cardiovascular risk in acromegaly are scanty and lack a clear correlation to epidemiological data.

Objective: Our aim was an evaluation of cardiovascular risk factors in patients with active acromegaly, a calculation of the Framingham risk score (FRS) compared with age- and gender-matched controls of the general population, and an evaluation of the effect of IGF-I normalization.

Design And Setting: We conducted a retrospective, comparative study at a university referral center.

Association of exercise capacity and the heart rate profile during exercise stress testing with subclinical coronary atherosclerosis: data from the Heinz Nixdorf Recall study.

Background: Exercise capacity and heart rate profile parameters obtained from exercise stress testing as well as the subclinical coronary atherosclerosis burden from cardiac CT have been suggested to improve cardiovascular (CV) risk stratification beyond traditional risk factors (RF) in persons at risk of CV events.

Aim: To study the association of exercise stress-test variables with the coronary artery calcium (CAC) burden in relation to age, sex and traditional RF in subjects without known coronary artery disease from the general population.

Methods: In 3,163 subjects, CV and RF were measured, a bicycle stress test was performed and the electron beam CT-based CAC-Agatston score was quantified.

The effect of age and risk factors on coronary and carotid artery atherosclerotic burden in males-Results of the Heinz Nixdorf Recall Study.

Background: Increased arterial intima-media thickness (IMT) and coronary artery calcification (CAC) are measures of subclinical arteriosclerosis burden. Little is known, however, whether risk factors have an impact differently on atherosclerosis in these distinct vascular territories in the same individuals.

Methods And Design: For 1620 men without coronary artery disease (CAD) and stroke, aged 45-75 years (59+/-8), IMT was measured 1cm proximal to the bulb in the common carotid artery (CCA).

The incidence of lymph node metastases in prostate carcinoma depends not only on tumor characteristics but also on surgical performance and extent of pelvic lymphadenectomy.

Objectives: The purpose of the present study was to determine whether predictions of the incidence of pelvic lymph node metastases in patients with similar prostate cancer characteristics are influenced by the extent of pelvic lymphadenectomy or surgical performance.

Material And Methods: Data from a prostate cancer database were analyzed to investigate associations between incidence of lymph node metastasis and preoperative prostate-specific antigen level, clinical stage, biopsy Gleason score, extent of pelvic lymphadenectomy, and surgical performance. Subgroups of patients with the same characteristics were formed, and a multivariate analysis was performed.

Complications of pelvic lymphadenectomy in 1,380 patients undergoing radical retropubic prostatectomy between 1993 and 2006.

Purpose: We evaluated the perioperative complications associated with pelvic lymphadenectomy in patients undergoing radical retropubic prostatectomy. In particular the influence of the extent of pelvic lymphadenectomy and of other possible risk factors on the complication rate was examined.

Materials And Methods: All intraoperative and early postoperative complications in 1,380 patients who underwent radical retropubic prostatectomy were documented.

Intraoperative and early postoperative complications of radical retropubic prostatectomy.

Introduction: To determine the perioperative complications and morbidity of radical retropubic prostatectomy (RRP) and to analyze risk factors for observed complications.

Materials And Methods: Data of 1,000 patients undergoing RRP and pelvic lymphadenectomy (pLA) performed by different surgeons of the same hospital were collected. Uni- and multivariate analysis was performed to detect associations between intra- and postoperative complications and specific variables.