Estimated Familial Amyotrophic Lateral Sclerosis Proportion: A Literature Review and Meta-analysis.

Background And Objectives: Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disorder. Familial (fALS) cases are usually reported to constitute 5%-10% of all ALS cases; however, no recent literature review or meta-analysis of this proportion (referred to throughout as "proportion fALS") has been conducted. Our objective was to estimate the proportion fALS by geographic region and to assess the effect of study characteristics on the estimates.

Incidence of Aicardi-Goutières syndrome and -related epilepsy in Denmark.

Objective: To estimate the incidence of Aicardi-Goutières syndrome (AGS) and potassium sodium-activated channel subfamily T member 1 (-related epilepsy in Denmark and to characterize the patients diagnosed with AGS and -related epilepsy.

Background: AGS and -related epilepsy are 2 distinct rare genetic disorders. Due to the rarity of AGS and -related epilepsy, the epidemiology remains unclear.

Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls.

Introduction: There is little information about survival of spinal muscular atrophy (SMA) patients into adulthood, in particular from population-based samples. We estimated and compared age-specific, all-cause mortality rates in patients with SMA and matched controls in a large, retrospective cohort study using electronic health records (EHRs) from the pre-treatment era.

Methods: The US Optum de-identified EHR database contains EHRs for ~ 104 million persons (study period: January 1, 2007-December 22, 2016).

Estimated Prevalence and Incidence of Amyotrophic Lateral Sclerosis and SOD1 and C9orf72 Genetic Variants.

Introduction: Amyotrophic lateral sclerosis (ALS) is a rare neurological disorder characterized by progressive deterioration of motor neurons. Assessment of the size/geographic distribution of the ALS population, including ALS with genetic origin, is needed to understand the burden of the disease and the need for clinical intervention and therapy.

Objectives: The main objective of this study was to estimate the number of prevalent and incident ALS cases overall and superoxide dismutase 1 (SOD1) and chromosome 9 open reading frame 72 (C9orf72) ALS in 22 countries across Europe (Belgium, France, Germany, Ireland, Italy, Netherlands, Norway, Russia, Spain, Sweden, and UK), North America (USA and Canada), Latin America (Argentina, Brazil, Colombia, Mexico, and Uruguay), and Asia (China, Japan, South Korea, and Taiwan).

14-Year Changes in Plasma Neurofilament Levels Among Men: A Pilot Study.

Little is known about the feasibility of using long-term stored blood samples to measure neurofilament levels and about long-term changes in neurofilament levels among healthy individuals. We performed a pilot study among 26 adult men in preparation for a larger-scale study of the natural history of neurofilament levels. Median change over 14 years in pNf-H was 97.

Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome.

Atypical hemolytic uremic syndrome (aHUS) is a rare, genetic, life-threatening disease. The Global aHUS Registry collects real-world data on the natural history of the disease. Here we characterize end-stage renal disease (ESRD)-free survival, the rate of thrombotic microangiopathy, organ involvement and the genetic background of 851 patients in the registry, prior to eculizumab treatment.

Association of Glycemic Control With Reduced Risk for Large-Vessel Disease After More Than 50 Years of Type 1 Diabetes.

Context: Previously we demonstrated, in individuals who have had type 1 diabetes (T1D) for 50 or more years (Medalists), that glycemic control was unrelated to diabetic complications, with the exception of cardiovascular disease (CVD), contrary to what has been documented in registry-based studies.

Objective: The purpose of this study is to validate these initial findings and identify contributors to mortality on an individual basis in a large cohort.

Design: Cross-sectional and longitudinal study.

Nocturia: Current Levels of Evidence and Recommendations From the International Consultation on Male Lower Urinary Tract Symptoms.

Objective: To evaluate published evidence on nocturia in men and derive expert recommendations.

Methods: The International Consultations on Urological Diseases-Société Internationale d'Urologie convened a Consultation of experts on male lower urinary tract symptoms. The Consultation assigned standardized levels of evidence and grades of recommendation to various studies of nocturia epidemiology, pathophysiology, assessment, and treatment.

Changes in erectile dysfunction over time in relation to Framingham cardiovascular risk in the Boston Area Community Health (BACH) Survey.

Introduction: Erectile dysfunction (ED) is associated with cardiovascular disease (CVD); however, the association between change in ED status over time and future underlying CVD risk is unclear.

Aim: The aim of this study was to investigate the association between change in ED status and Framingham CVD risk, as well change in Framingham risk.

Methods: We studied 965 men free of CVD in the Boston Area Community Health (BACH) Survey, a longitudinal cohort study with three assessments.

Association of peripheral microvascular dysfunction and erectile dysfunction.

Purpose: Increasing evidence of a link between erectile dysfunction and cardiovascular disease suggests a shared vascular etiology with endothelial dysfunction as a plausible underlying biological mechanism. To our knowledge whether this association is different for large arterial endothelium compared to microvascular endothelium has not yet been established. We investigated the association of erectile dysfunction with macrovascular and microvascular endothelial function.

Association of moderate to severe lower urinary tract symptoms with incident type 2 diabetes and heart disease.

Purpose: Increasing evidence suggests a possible link between lower urinary tract symptoms and chronic illnesses. We determined whether lower urinary tract symptoms are associated with incident type 2 diabetes and heart disease in a population based study.

Materials And Methods: BACH is a population based epidemiological survey of urological symptoms.

Population-based patterns of prescription androgen use, 1976-2008.

Purpose: Prescription testosterone (T) has limited approved medical indications and is a controlled substance in Canada. Utilization studies in other Westernized countries have revealed sharp increases in T use in recent years. We examined medical use of androgens, including T, over a ≥30-year period among adult (18+) men in a population-based study set in a Canadian juridisdiction of universal health care.

Incidence of lower urinary tract symptoms in a population-based study of men and women.

Objective: To report the incidence of lower urinary tract symptoms (LUTS) in a racially and ethnically and age-diverse U.S. population-based sample of men and women.

Treatment status and progression or regression of lower urinary tract symptoms in a general adult population sample.

Purpose: We report progression and regression of lower urinary tract symptoms in a population based cohort by race/ethnicity, gender, age and lower urinary tract symptom medication use.

Materials And Methods: The BACH (Boston Area Community Health) Survey enrolled 5,502 participants 30 to 79 years old of black, Hispanic or white race/ethnicity. The 5-year followup interviews were completed by 1,610 men and 2,534 women for a conditional response rate of 80%.

Common prescription medication use and erectile dysfunction: results from the Boston Area Community Health (BACH) survey.

Objective: To investigate the association of erectile dysfunction (ED) with commonly used medications including antihypertensive treatment (AHT), psychoactive medication and pain and anti-inflammatory medication.

Subjects And Methods: The Boston Area Community Health (BACH) survey used a multistage stratified design to recruit a random sample of 2301 men aged 30-79 years. ED was assessed using the five-item International Index of Erectile Function (IIEF-5).

Association of lower urinary tract symptoms and the metabolic syndrome: results from the Boston area community health survey.

Purpose: In this study we investigated the relationship between lower urinary tract symptoms as defined by the American Urological Association symptom index and the metabolic syndrome, and determined the relationship between individual symptoms comprising the American Urological Association symptom index and the metabolic syndrome.

Materials And Methods: The Boston Area Community Health Survey used a 2-stage cluster design to recruit a random sample of 2,301 men 30 to 79 years old. Analyses were conducted on 1,899 men who provided blood samples.

Are physical activity, smoking and alcohol consumption associated with lower urinary tract symptoms in men or women? Results from a population based observational study.

Purpose: Lower urinary tract symptoms are highly prevalent and reduce quality of life. Lifestyle behaviors and the development of lower urinary tract symptoms have been largely unexamined. We investigated physical activity, smoking and alcohol drinking in relation to the development of lower urinary tract symptoms in men and women.

Association of overactive bladder and C-reactive protein levels. Results from the Boston Area Community Health (BACH) Survey.

Objective: • To investigate the association between overactive bladder (OAB) and C-reactive protein (CRP) in a population-based sample of men and women.

Subjects And Methods: • Epidemiological survey of urological symptoms among men and women aged 30-79 years. A multi-stage stratified cluster design was used to randomly sample 5503 adults from the city of Boston.

Nocturia and quality of life: results from the Boston area community health survey.

Background: Nocturia, a common complaint in aging men and women, is frequently cited as the cause of nocturnal awakenings leading to sleep loss, daytime fatigue, and reduced quality of life (QOL).

Objective: Investigate the association of nocturia with QOL and depressive symptoms among men and women.

Design, Setting, And Participants: A population-based epidemiologic survey of urologic symptoms among persons aged 30-79 yr.