A Systematic Review of Epidemiology and Outcomes Associated with Local Surgical and Intersphincteric Ligation Procedures for Complex Cryptoglandular Fistulas.

Introduction: This systematic literature review (SLR) assessed incidence/prevalence of cryptoglandular fistulas (CCF) and outcomes associated with local surgical and intersphincteric ligation procedures for CCFs.

Methods: Two trained reviewers searched PubMed and Embase for observational studies evaluating the incidence/prevalence of cryptoglandular fistula and clinical outcomes of treatments for CCF after local surgical and intersphincteric ligation procedures for CCF.

Results: In total 148 studies met a priori eligibility criteria for all cryptoglandular fistulas and all intervention types.

A systematic review of epidemiology and outcomes of Crohn's disease-related enterocutaneous fistulas.

Background: Enterocutaneous fistulas (ECF) are rare sequelae of Crohn's disease (CD) that occur either postoperatively or spontaneously. ECFs are associated with high morbidity and mortality. This systematic literature review assesses the disease burden of CD-related ECF and identifies knowledge gaps around incidence/prevalence, treatment patterns, clinical outcomes, healthcare resource utilization (HCRU), and patient-reported outcomes (PROs).

A systematic review of the patient burden of Crohn's disease-related rectovaginal and anovaginal fistulas.

Background: Crohn's disease (CD)-related rectovaginal fistulas (RVFs) and anovaginal fistulas (AVFs) are rare, debilitating conditions that present a substantial disease and treatment burden for women. This systematic literature review (SLR) assessed the burden of Crohn's-related RVF and AVF, summarizing evidence from observational studies and highlighting knowledge gaps.

Methods: This SLR identified articles in PubMed and Embase that provide data and insight into the patient experience and disease burden of Crohn's-related RVF and AVF.

Qualitative measures that assess functional disability and quality of life in ALS.

Background: Selection of appropriate trial endpoints and outcome measures is particularly important in rare disease and rapidly progressing disease such as amyotrophic lateral sclerosis (ALS) where the challenges to conducting clinical trials, are substantial: patient and disease heterogeneity, limited understanding of exact disease pathophysiology, and lack of robust and available biomarkers. To address these challenges in ALS, the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised version (ALSFRS-R) was developed and has become a key primary endpoint in ALS clinical trials to assess functional disability and disease progression, often replacing survival as a primary outcome. However, increased understanding of the ALS disease journey and improvements in assistive technology for ALS patients have exposed issues with the ALSFRS-R, including non-linearity, multidimensionality and floor and ceiling effects that could challenge its continued utility as a primary outcome measure in ALS clinical trials.

A Descriptive Review of Global Real World Evidence Efforts to Advance Drug Discovery and Clinical Development in Amyotrophic Lateral Sclerosis.

Understanding patient clinical progression is a key gateway to planning effective clinical trials and ultimately enabling bringing treatments to patients in need. In a rare disease like amyotrophic lateral sclerosis (ALS), studies of disease natural history critically depend on collaboration between clinical centers, regions, and countries to enable creation of platforms to allow patients, caregivers, clinicians, and researchers to come together and more fully understand the condition. Rare disease registries and collaborative platforms such as those developed in ALS collect real-world data (RWD) in standardized formats, including clinical and biological specimen data used to evaluate risk factors and natural history of disease, treatment patterns and clinical (ClinROs) and patient- reported outcomes (PROs) and validate novel endpoints.

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous survival of motor neuron 1 (SMN1) gene disruption. Despite a genetic etiology, little is known about subtype concordance among siblings.

Objective: To investigate subtype concordance among siblings with SMA.

Ticagrelor Removal by CytoSorb in Patients Requiring Emergent or Urgent Cardiac Surgery: A UK-Based Cost-Utility Analysis.

Background: Acute coronary syndrome patients receiving dual antiplatelet therapy who need emergent or urgent cardiac surgery are at high risk of major bleeding, which can impair postoperative outcomes. CytoSorb, a blood purification technology based on adsorbent polymer, has been demonstrated to remove ticagrelor from blood during on-pump cardiac surgery.

Objective: The aim of this study was to evaluate the cost utility of intraoperative removal of ticagrelor using CytoSorb versus usual care among patients requiring emergent or urgent cardiac surgery in the UK.

An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members.

Background: The Cure SMA database is one of the largest patient reported databases for people affected with SMA.

Objective: The purpose of this study was to examine a subset of affected SMA persons with types I, II, and III from a patient reported database.

Methods: Individuals with SMA were selected from the database using a date of first contact to Cure SMA between 2010 and 2016.

Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States.

Background: Spinal muscular atrophy (SMA) is a progressive, devastating disease and a leading inherited cause of infant mortality. The limited population-based literature is confined to small regional studies. Estimates of prevalence are needed to characterize the burden of SMA and to understand trends in prevalence by disease type as new treatments become available.

Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway.

A phenome-wide association study of variants in genes in the Th17 and IL-17 pathway was performed using self-reported phenotypes and genetic data from 521,000 research participants of 23andMe. Results replicated known associations with similar effect sizes for autoimmune traits illustrating self-reported traits can be a surrogate for clinically assessed conditions. Novel associations controlling for a false discovery rate of 5% included the association of the variant encoding p.

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a relatively rare condition, studies of its prevalence and incidence are challenging.

A multi-source approach to determine SMA incidence and research ready population.

In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations. Combining data from different sources including genetic laboratories and patient registries may provide better insight of the disease epidemiology.

Achieving Synergy: Linking an Internet-Based Inflammatory Bowel Disease Cohort to a Community-Based Inception Cohort and Multicentered Cohort in Inflammatory Bowel Disease.

Background: Traditional cohort studies are important contributors to our understanding of inflammatory bowel diseases, but they are labor intensive and often do not focus on patient-reported outcomes. Internet-based studies provide new opportunities to study patient-reported outcomes and can be efficiently implemented and scaled. If a traditional cohort study was linked to an Internet-based study, both studies could benefit from added synergy.

Exploring Methods to Measure the Prevalence of Ménière's Disease in the US Clinformatics™ Database, 2010-2012.

Recent studies on the epidemiology of the inner-ear disorder Ménière's disease (MD) use disparate methods for sample selection, case identification and length of observation. Prevalence estimates vary geographically from 17 to 513 cases per 100,000 people. We explored the impact of case detection strategies and observation periods in estimating the prevalence of MD in the USA, using data from a large insurance claims database.

Collecting Biospecimens From an Internet-Based Prospective Cohort Study of Inflammatory Bowel Disease (CCFA Partners): A Feasibility Study.

Background: The Internet has successfully been used for patient-oriented survey research. Internet-based translational research may also be possible.

Objective: Our aim was to study the feasibility of collecting biospecimens from CCFA Partners, an Internet-based inflammatory bowel disease (IBD) cohort.

Enrollment factors and bias of disease prevalence estimates in administrative claims data.

Purpose: Considerations for using administrative claims data in research have not been well-described. To increase awareness of how enrollment factors and insurance benefit use may contribute to prevalence estimates, we evaluated how differences in operational definitions of the cohort impact observed estimates.

Methods: We conducted a cross-sectional study estimating the prevalence of five gastrointestinal conditions using MarketScan claims data for 73.

Perceptions of patients with inflammatory bowel diseases on biobanking.

Background: Little is known about beliefs, understanding, and perceptions of biobanking among patients with inflammatory bowel diseases. We aimed to further understand perceptions of biobanking in the inflammatory bowel disease community.

Methods: Subjects were recruited to participate in a 1:1 telephone interview on their perceptions of the risks and benefits of contributing specimens for research.

The benefits associated with volunteering among seniors: a critical review and recommendations for future research.

There is an urgent need to identify lifestyle activities that reduce functional decline and dementia associated with population aging. The goals of this article are to review critically the evidence on the benefits associated with formal volunteering among older adults, propose a theoretical model of how volunteering may reduce functional limitations and dementia risk, and offer recommendations for future research. Database searches identified 113 papers on volunteering benefits in older adults, of which 73 were included.

Prevalence of chronic narcotic use among children with inflammatory bowel disease.

Background & Aims: Narcotic analgesics are not recommended for long-term management of pain for patients with inflammatory bowel disease (IBD), particularly pediatric patients. We compared chronic use of narcotics among children with IBD and the general population and investigated factors associated with narcotic use in the pediatric IBD population.

Methods: This cross-sectional study included children (younger than 18 years old) with continuous enrollment in a large administrative claims database from 2010 through 2011 (n = 4,911,286).

Validation of an internet-based cohort of inflammatory bowel disease (CCFA partners).

Background: As traditional methods have become increasingly difficult, the Internet offers a mechanism for conducting survey research quickly and efficiently. However, the validity of this research depends on the ability of respondents to accurately report health status. We used a large Internet-based inflammatory bowel disease (IBD) cohort to validate self-reported IBD against physician reports.

Patterns of 6-mercaptopurine and azathioprine maintenance therapy among a cohort of commercially insured individuals diagnosed with Crohn's disease in the United States.

Background And Aims: Thiopurines, including 6-mercaptopurine (6-MP) and azathioprine (AZA), are the mainstay of maintenance therapy for Crohn's disease (CD). However, studies examining their effectiveness in routine practice among diverse patient populations are lacking. Among a cohort of new users of 6MP/AZA, we described treatment patterns and changes in subsequent therapy.

The burden of comedication among patients with inflammatory bowel disease.

Background: Polypharmacy is of growing concern in the chronically ill, including individuals with inflammatory bowel disease (IBD). The authors aimed to describe the prevalence and predictors of non-IBD medication use and to compare drug use among individuals with and without IBD.

Methods: This cross-sectional study included members of health plans included in the Thomson Reuters MarketScan databases with continuous enrollment during 2009 and 2010.

Redirection: an extension of career during retirement.

Purpose Of The Study: This study explores (a) whether retirees' formal volunteer experiences represent an extension of their career in the paid workforce; and (b) how this integration of life roles affects career self-concept, as interpreted through Donald Super's life-span, life-space theory of career development.

Design And Methods: A survey was conducted involving a Canadian sample of 214 individuals aged 55-75 years to examine retirees' volunteer activities and their sense of self.

Results: The results demonstrate the need to further develop Super's theory with the addition of a new developmental stage, which I am labeling "Redirection" to better reflect postretirement experiences.