Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.

Background And Objectives: To report the genetic etiologies of Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), congenital muscular dystrophy (CMD), and distal muscular dystrophy (DD) in 6 geographically defined areas of the United States.

Methods: This was a cross-sectional, population-based study in which we studied the genes and variants associated with muscular dystrophy in individuals who were diagnosed with and received care for EDMD, LGMD, CMD, and DD from January 1, 2008, through December 31, 2016, in the 6 areas of the United States covered by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR). Variants of unknown significance (VUSs) from the original genetic test reports were reanalyzed for changes in interpretation.

DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians.

The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically.

Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States.

Background: Direct estimates of rare disease prevalence from public health surveillance may only be available in a few catchment areas. Understanding variation among observed prevalence can inform estimates of prevalence in other locations. The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) conducts population-based surveillance of major muscular dystrophies in selected areas of the United States.

Role Attainment in Emerging Adulthood: Subjective Evaluation by Male Adolescents and Adults with Duchenne and Becker Muscular Dystrophy.

Background: Youth with Duchenne and Becker muscular dystrophy (DBMD) experience challenges in attaining adult roles, which may impact quality of life. New interventions and treatments may facilitate adult role attainment through improved function. Historical data on adult role attainment is important to assess the impact of new interventions on teens and young adults with DBMD.

Health Profile of Preterm Males With Duchenne Muscular Dystrophy.

In this retrospective cohort study, we characterize the health profile of preterm males with Duchenne muscular dystrophy. Major clinical milestones (ambulation cessation, assisted ventilation use, and onset of left ventricular dysfunction) and corticosteroids use in males with Duchenne muscular dystrophy identified through a population-based surveillance system were analyzed using Kaplan-Meier survival curves and Cox proportional hazards modeling. The adjusted risk of receiving any respiratory intervention among preterm males with Duchenne muscular dystrophy was 87% higher than among the corresponding full-term males with Duchenne muscular dystrophy.

Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.

Background: Quantifying associations between genetic mutations and loss of ambulation (LoA) among males diagnosed with childhood-onset dystrophinopathy is important for understanding variation in disease progression and may be useful in clinical trial design.

Methods: Genetic and clinical data from the Muscular Dystrophy Surveillance, Tracking, and Research Network for 358 males born and diagnosed from 1982 to 2011 were analyzed. LoA was defined as the age at which independent ambulation ceased.

Recurrent thrombosis in patients with antiphospholipid antibodies and an initial venous or arterial thromboembolic event: A systematic review and meta-analysis.

Background: Patients with antiphospholipid antibodies (aPL) and thromboembolism (TE) are at risk for recurrent TE. Few studies, however, distinguish patients based on the initial event.

Objectives: We performed a systematic review and meta-analysis to investigate patients with aPL and venous TE (VTE), provoked or unprovoked, and patients with arterial TE (ATE).

From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB).

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited genetic disorder characterized by recurrent and chronic open wounds with significant morbidity, impaired quality of life, and early mortality. RDEB patients demonstrate reduction or structural alteration type VII collagen (C7) owing to mutations in the gene , the main component of anchoring fibrils (AF) necessary to maintain epidermal-dermal cohesion. While over 700 alterations in have been reported to cause dystrophic epidermolysis bullosa (DEB), which may be inherited in an autosomal dominant (DDEB) or autosomal recessive pattern (RDEB), the incidence and prevalence of RDEB is not well defined.

The Effect of Laboratory Test-Based Clinical Decision Support Tools on Medication Errors and Adverse Drug Events: A Laboratory Medicine Best Practices Systematic Review.

Background: Laboratory and medication data in electronic health records create opportunities for clinical decision support (CDS) tools to improve medication dosing, laboratory monitoring, and detection of side effects. This systematic review evaluates the effectiveness of such tools in preventing medication-related harm.

Methods: We followed the Laboratory Medicine Best Practice (LMBP) initiative's A-6 methodology.

Interventions to prevent iatrogenic anemia: a Laboratory Medicine Best Practices systematic review.

Background: As many as 90% of patients develop anemia by their third day in an intensive care unit (ICU). We evaluated the efficacy of interventions to reduce phlebotomy-related blood loss on the volume of blood lost, hemoglobin levels, transfusions, and incidence of anemia.

Methods: We conducted a systematic review and meta-analysis using the Laboratory Medicine Best Practices (LMBP) systematic review methods for rating study quality and assessing the body of evidence.

The effect of steroid treatment on weight in nonambulatory males with Duchenne muscular dystrophy.

To describe the long-term effect of steroid treatment on weight in nonambulatory males with Duchenne Muscular Dystrophy (DMD), we identified 392 males age 7-29 years with 4,512 weights collected after ambulation loss (176 steroid-naïve and 216 treated with steroids ≥6 months) from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Comparisons were made between the weight growth curves for steroid-naïve males with DMD, steroid-treated males with DMD, and the US pediatric male population. Using linear mixed-effects models adjusted for race/ethnicity and birth year, we evaluated the association between weight-for-age and steroid treatment characteristics (age at initiation, dosing interval, cumulative duration, cumulative dose, type).

Interventions to Improve Follow-Up of Laboratory Test Results Pending at Discharge: A Systematic Review.

Failure to follow up test results pending at discharge (TPAD) from hospitals or emergency departments is a major patient safety concern. The purpose of this review is to systematically evaluate the effectiveness of interventions to improve follow-up of laboratory TPAD. We conducted literature searches in PubMed, CINAHL, Cochrane, and EMBASE using search terms for relevant health care settings, transition of patient care, laboratory tests, communication, and pending or missed tests.

Genetic contributions to urgency urinary incontinence in women.

Purpose: We identify genetic variants associated with urgency urinary incontinence in postmenopausal women.

Materials And Methods: A 2-stage genome-wide association analysis was conducted to identify variants associated with urgency urinary incontinence. The WHI GARNET substudy with 4,894 genotyped post-reproductive white women was randomly split into independent discovery and replication cohorts.

Communicating risk of hereditary breast and ovarian cancer with an interactive decision support tool.

Objective: Women with hereditary breast and ovarian cancer syndrome (HBOC) face a higher risk of earlier, more aggressive cancer. Because of HBOC's rarity, screening is recommended only for women with strong cancer family histories. However, most patients do not have accurate history available and struggle to understand genetic concepts.

The PhenX Toolkit pregnancy and birth collections.

Purpose: Pregnancy and childbirth are normal conditions, but complications and adverse outcomes are common. Both genetic and environmental factors influence the course of pregnancy. Genetic epidemiologic research into pregnancy outcomes could be strengthened by the use of common measures, which would allow data from different studies to be combined or compared.

Women's knowledge, attitudes, and beliefs about Down syndrome: a qualitative research study.

Women who are or may become pregnant need up-to-date information about Down syndrome (DS). Asking women about their knowledge, opinions, resources, and information needs on the topic of DS is an important precursor to develop effective strategies for education. We conducted 24 focus groups (N = 111) in two US cities with women who were recently pregnant (who had a child ≤ 3 years old without DS) and women who planned to have a child in the next year.

The relationship of socioeconomic status to preterm contractions and preterm delivery.

Spontaneous preterm labor precedes approximately 50% of preterm births. One to 10% of pregnant women are hospitalized for preterm labor. This study examines the relationship of socioeconomic indicators, family income, education and type of insurance, with preterm contractions and subsequent preterm delivery.

Prenatal counseling on seat belt use and crash-related medical care.

Describe the prevalence of and characteristics associated with being hurt in a car accident during pregnancy; the resulting medical care needed; and the association between counseling and the medical care needed after a car accident. Secondary data analysis of PRAMS (Pregnancy Risk Assessment Monitoring System) data, a population based survey of women with a recent live birth. Two percent of women were hurt in a car accident during their pregnancy.

Birth outcomes of intended pregnancies among women who used assisted reproductive technology, ovulation stimulation, or no treatment.

Objective: To study birth outcomes among live born infants conceived by women who used infertility treatment.

Design: Population-based surveillance of women who recently delivered a live infant.

Setting: The birth outcomes among infants whose mothers used assisted reproductive technology (ART) or ovulation stimulation medications alone were compared with the outcomes of infants conceived without treatment.

Racial and ethnic differences in preterm delivery among low-risk women.

Background: Preterm delivery is the leading cause of infant mortality in the United States. The risk of preterm delivery and the prevalence of factors associated with preterm delivery differ by racial and ethnic groups.

Objective: To examine racial and ethnic differences in preterm delivery among women without the common risk factors for preterm delivery.

Setting a public health research agenda for Down syndrome: summary of a meeting sponsored by the Centers for Disease Control and Prevention and the National Down Syndrome Society.

On November 8-9, 2007, a meeting entitled "Setting a Public Health Research Agenda for Down Syndrome" was held to review current knowledge, identify gaps, and develop priorities for future public health research related to Down syndrome. Participants included experts in clinical and molecular genetics, pediatrics, cardiology, psychiatry, psychology, neuroscience, epidemiology, and public health. Participants were asked to identify key public health research questions and discuss potential strategies that could be used to address those questions.

Racial, ethnic, and economic disparities in the prevalence of pregnancy complications.

Objectives: Our objective was to use maternal self-reported data to estimate the prevalence of urinary tract infections, placenta disorders, and preterm rupture of the membranes (PROM) and to explore the association between these complications and race, ethnicity, and economic status.

Methods: We used data for the years 2000-2002 from the Pregnancy Risk Assessment Monitoring System (PRAMS), an ongoing survey of women with a recent live birth, to examine the prevalence of and hospitalizations for self-reported urinary tract infections, placenta disorders, and PROM and to investigate differences by maternal race, Hispanic ethnicity, and economic status. Prevalence and hospitalizations were calculated as a percent of the represented population using SUDAAN to account for the sampling design.