Qualitative assessment of primary care providers' attitudes toward genetic services and genetics education.

As the role of primary care providers (PCPs) in genetic medicine increases, there is a need for training related to the integration of genetics into primary care. However, little is known about PCPs' attitudes towards and perceived needs for such training. We conducted semi-structured interviews with nine PCPs to capture information about their perceptions of their role in genetics and their continuing medical educational needs related to genetics in primary care, and we conducted thematic analysis.

Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry.

Women with phenylketonuria (PKU) should maintain blood phenylalanine (phe) concentration within the recommended range before and during pregnancy to prevent maternal PKU syndrome (MPKUS) in their offspring. Women who gave birth to children with MPKUS symptoms were more likely to report elevated phe concentration before pregnancy, and barriers to accessing components of their dietary management during pregnancy, including blood phe testing, medical food, modified low-protein foods, and healthcare visits with PKU specialists.

The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.

Background: The autosomal recessive disorder N-acetylglutamate synthase (NAGS) deficiency is the rarest defect of the urea cycle, with an incidence of less than one in 2,000,000 live births. Hyperammonemic crises can be avoided in individuals with NAGS deficiency by the administration of carbamylglutamate (also known as carglumic acid), which activates carbamoyl phosphatase synthetase 1 (CPS1). The aim of this case series was to introduce additional cases of NAGS deficiency to the literature as well as to assess the role of nutrition management in conjunction with carbamylglutamate therapy across new and existing cases.

Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations.

Background: The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy and/or sapropterin. An update of this guideline aims to provide recommendations that improve clinical outcomes and promote consistency and best practice in the nutrition management of individuals with PKU receiving pegvaliase therapy. Methodology includes: formulation of a research question; review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature; expert input through Delphi surveys and a Nominal Group process; and external review by metabolic experts.

Primary Care Providers' Use of Genetic Services in the Southeast United States: Barriers, Facilitators, and Strategies.

Introduction/objectives: Collectively, genetic diseases are not that rare, and with increasing availability of genetics-informed healthcare management, primary care providers (PCPs) are more often asked to screen for or provide genetic services. Previous studies have identified barriers that impact PCPs' ability to provide genetic services, including limited knowledge, training, and time/resources. This study set out to identify specific barriers limiting genetics service provision by PCPs within the Southeastern Regional Genetics Network (SERN) and resources that would help eliminate those barriers.

Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada.

Background: Breast milk is considered the optimal first food for infants. Breastfeeding infants with inherited metabolic disorders (IMDs) is complex due to the critical need to manage intake of specific macronutrients depending on the type of IMD.

Objective: To describe current practices of registered dietitians (RD) who treat patients with IMDs regarding the incorporation of breastmilk into disease management.

Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry.

Purpose: Phenylalanine hydroxylase deficiency, or phenylketonuria (PKU), is a rare autosomal recessive metabolic disorder. Early diagnosis via newborn screening (NBS) and initiation of treatment prevent the development of cognitive impairment and other co-morbidities. The purpose of this study is to describe the natural history of PKU in the United States, including prevalence of co-morbidities and predictors of outcomes.

Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists.

Introduction: Primary care physicians (PCPs) are considered the gatekeepers of genetic services, but they often underutilize or inappropriately utilize such services, leading to lack of early treatment, incorrect diagnoses, and unnecessary procedures. This study aims to delineate PCP referral patterns, including the frequency of, motivators for, and barriers to genetic referrals and testing in the present landscape of genomics.

Methods: A 34-item online survey was distributed to PCPs in the United States (US).

The Use of Telemedicine and Other Strategies by Registered Dietitians for the Medical Nutrition Therapy of Patients With Inherited Metabolic Disorders During the COVID-19 Pandemic.

The clinical management of patients with inherited metabolic disorders (IMDs) includes medical nutrition therapy (MNT) by a registered dietitian (RD). We utilized an online quantitative and qualitative survey to characterize the practices of RDs treating patients with IMDs during the COVID-19 pandemic and to identify challenges and unmet needs. We received responses from 117 RDs.

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.

Background: N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of hyperammonemia which can cause significant morbidity and mortality. Since its recognition in 1981, NAGS deficiency has been treated with carbamylglutamate with or without other measures (nutritional, ammonia scavengers, dialytic, etc.).

Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases.

We surveyed individuals with inherited metabolic diseases (IMDs) or their caregivers to explore experiences with genetic testing. Pursuit of knowledge, benefit to science, clinician recommendations, cascade testing, and cost were important considerations for pursuing genetic testing. Knowledge about inheritance patterns was limited, even for those who had received genetic testing.

Chagas Disease in Southern Coastal Ecuador: Coinfections with Arboviruses and a Comparison of Serological Assays for Chagas Disease Diagnosis.

Occurrence of Chagas disease and arbovirus coinfections is unknown, despite the vast co-endemic areas throughout the Americas. This study examined the proportion of individuals positive for and coinfections with dengue, chikungunya, and Zika viruses in Machala, Ecuador (January 2014-December 2015). Chagas seropositivity was evaluated with five commercially available assays.

The Burden of Dengue Fever and Chikungunya in Southern Coastal Ecuador: Epidemiology, Clinical Presentation, and Phylogenetics from the First Two Years of a Prospective Study.

Here, we report the findings from the first 2 years (2014-2015) of an arbovirus surveillance study conducted in Machala, Ecuador, a dengue-endemic region. Patients with suspected dengue virus (DENV) infections (index cases, = 324) were referred from five Ministry of Health clinical sites. A subset of DENV-positive index cases ( = 44) were selected, and individuals from the index household and four neighboring homes within 200 m were recruited ( = 400).

Case Report: An Acute Chikungunya Infection and a Recent Secondary Dengue Infection in a Peripartum Case in Ecuador.

Dengue virus (DENV) and chikungunya virus (CHIKV) are transmitted by the same mosquito vectors and now co-circulate in many parts of the world; however, coinfections and serial infections are not often diagnosed or reported. A 38-week pregnant woman was admitted to the hospital with a diagnosis of suspected DENV and CHIKV in southern coastal Ecuador. The pregnancy was complicated by mild polyhydramnios and fetal tachycardia, and a healthy newborn was born.

Social-ecological factors and preventive actions decrease the risk of dengue infection at the household-level: Results from a prospective dengue surveillance study in Machala, Ecuador.

Background: In Ecuador, dengue virus (DENV) infections transmitted by the Aedes aegypti mosquito are among the greatest public health concerns in urban coastal communities. Community- and household-level vector control is the principal means of controlling disease outbreaks. This study aimed to assess the impact of knowledge, attitudes, and practices (KAPs) and social-ecological factors on the presence or absence of DENV infections in the household.

Psychological Distress and Zika, Dengue and Chikungunya Symptoms Following the 2016 Earthquake in Bahía de Caráquez, Ecuador.

On 16 April 2016, a 7.8 magnitude earthquake struck coastal Ecuador, resulting in significant mortality and morbidity, damages to infrastructure, and psychological trauma. This event coincided with the first outbreak of Zika virus (ZIKV) and co-circulation with dengue virus (DENV) and chikungunya virus (CHIKV).

Patatin-like phospholipase domain-containing protein 3 (PNPLA3): A potential role in the association between liver disease and bipolar disorder.

Objective: Due to the increased prevalence of liver disease in patients with bipolar disorder, we examined the potential role of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) variant among individuals with bipolar disorder and those with no mood disorder.

Methods: We used the National Health and Nutrition Examination Survey (NHANES) database (aged 15-39 years) to identify a group of individuals with a bipolar diagnosis and a control group of individuals with no mood disorder. A total of 1931 individuals were randomly selected, one from each family containing information on the PNPLA3 genotype to be used in the analysis.

Initial engagement and attrition in a national weight management program: demographic and health predictors.

Inconsistent attendance and participant withdrawal limit the effectiveness of weight control programs, but little is known about predictors of initial and ongoing engagement. The purpose of this study was to identify these predictors with respect to the Veterans Affairs MOVE!® program, using medical record data. Logistic regression models were used to predict initial and ongoing engagement (n = 39,862 and 1985, respectively).

Clinical course of alcohol use in veterans following an AUDIT-C Positive Screen.

There is little known regarding the typical trajectory of alcohol use following a positive screen for hazardous alcohol use. This information would help primary care providers as they attempt to determine the best use of patient visits that might include brief alcohol interventions versus other competing medical demands. This longitudinal observational study included 98 Veterans who screened positive on the Alcohol Use Disorders Identification Test-Consumption (>3) and were asked to report on their alcohol use every 3 months for 1 year.

Identifying classes of veterans with multiple risk factors.

As researchers examine the efficacy of interventions that simultaneously target more than 1 symptom, it is important to identify ways to help guide research and program development. This study used electronic medical record data to examine the covariation of multiple risk factors regularly assessed among primary care patients. It also examined the health care utilization of those patients identifying where the health care system came in contact with them to help identify the ideal locations these interventions may be most often used.

Substance use disorders increase the odds of subsequent mood disorders.

Background: There is a well-known association between mood disorders and substance use disorders (SUD), but little research has been conducted on SUDs as risk factors for the development of subsequent mood disorders.

Methods: We analyzed data from the National Comorbidity Survey Replication study. Diagnoses were determined using DSM-IV criteria.

Risk factors for secondary substance use disorders in people with childhood and adolescent-onset bipolar disorder: opportunities for prevention.

Background: Compared to other mental illnesses, bipolar disorder is associated with a disproportionately high rate of substance use disorders (SUDs), and the co-occurrence is associated with significant morbidity and mortality. Early diagnosis of primary bipolar disorder may provide opportunities for SUD prevention, but little is known about the risk factors for secondary SUD among individuals with bipolar disorder. The purposes of this study were to describe the population of people with childhood and adolescent-onset primary bipolar disorder, and to identify risk factors for secondary SUD in this population.

Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.

Purpose. The purpose of this study was to assess the desirability of Duchenne muscular dystrophy (DMD) screening, the effectiveness of the consent process, and the feasibility of conducting DMD screening in a pediatric office. Methods.

Widening gap in age at muscular dystrophy-associated death between blacks and whites, 1986-2005.

Background: Muscular dystrophies (MDs), characterized by progressive muscle wasting, are associated with 1 in 2,500 deaths in the United States. Although treatments slow the progression, these disorders lead to early death, usually due to cardiac or respiratory failure.

Methods: We analyzed death record data from 18,315 MD-associated deaths that occurred in the United States in 1986 through 2005 to assess trends in the age at death of people with MDs.