Prevalence of lymphedema among Anderson-Fabry disease patients: A report from the Fabry registry.

BACKGROUND: Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease due to a genetic variation in the α-galactosidase A (GLA) gene. As a result, the activity of the α-galactosidase A (AGAL-A) enzyme is reduced or absent, which causes sphingolipid deposition within different body parts. AFD typically manifests with cardiovascular, renal, cerebrovascular, and dermatologic involvement. Lymphedema is caused by sphingolipid deposition within lymphatics. Lymphedema can cause intolerable pain and limit daily activities. Very limited data exist on lymphedema in AFD patients. METHODS: Using data from the Fabry Registry (NCT00196742) with 7671 patients included (44% males and 56% females), we analyzed the prevalence of lymphedema among AFD patients who were ever assessed for lymphedema and studied the age of first reported lymphedema. Additionally, we assessed whether patients received AFD-specific treatment at some point during their clinical course. The data was stratified by gender and phenotype. RESULTS: Our study showed that lymphedema occurred in 16.5% of the Fabry Registry patients who were ever assessed for lymphedema (n = 5487). Male patients when compared to female patient have higher prevalence (21.7% vs 12.7%) and experienced lymphedema at a younger age (median age at first reported lymphedema of 43.7 vs 51.7 years). When compared to other phenotypes, classic phenotype has the highest prevalence of lymphedema with the earliest reported lymphedema. Among those who reported lymphedema, 84.5% received AFD-specific treatment during their clinical course. CONCLUSIONS: Lymphedema is a common manifestation of AFD in both genders, with a tendency to present later in female patients. Recognition of lymphedema can offer an important opportunity for intervention and potential impact on associated morbidity. Additional future studies are needed to characterize the clinical implications of lymphedema in AFD patients and identify additional treatment options for this growing population.

Is NPO (Nil Per Os) Order Helping or Hindering Elective Cardiac Procedures?

The practice of fasting before elective cardiac procedures including cardiac catheterization and transesophageal echocardiography is commonly implemented but evidence for these requirements is lacking. Fasting periods often exceed the intended length of time, increasing the risk of irritability, dehydration, acute kidney injury, hypoglycemia, and length of hospitalization. The practice of perioperative fasting relies on the premise that aspiration during general anesthesia can be mitigated by minimizing the volume of gastric contents, and stomach acidity. But the evidence has shown that fasting does not guarantee an empty stomach, and there is no observed association between aspiration and compliance with common fasting guidelines. Elective cardiac procedures are performed using procedural sedation, where the risk of serious aspiration is small. In most patients, we argue, that strict fasting requirements should be reduced, and a more nuanced fasting protocol based on individual patient characteristics and risk factors should be utilized given the overall low risk of aspiration with elective procedures utilizing procedural sedation. In this review, we examine the historical origins and current evidence relating to the practice of fasting as it relates to cardiac catheterization and transesophageal echocardiography.

Barth Syndrome: Psychosocial Impact and Quality of Life Assessment.

BACKGROUND: Barth syndrome (BTHS) is a rare X-linked genetic disease that affects multiple systems and leads to complex clinical manifestations. Although a considerable amount of research has focused on the physical aspects of the disease, less has focused on the psychosocial impact and quality of life (QoL) in BTHS. METHODS: The current study investigated caregiver- (n = 10) and self-reported (n = 16) psychological well-being and QoL in a cohort of BTHS-affected patients and families. Participants completed the depression and anxiety components of the Patient-Reported Outcomes Information System (PROMIS) Short Form 8A and Health-related quality of life (HRQoL) surveys at enrollment and again during a follow-up period ranging from 6 to 36 months after baseline. RESULTS: Quality of life changed significantly over time and the various domains with some improvement and some decline. Among the available caregiver-patient dyad data, there was a trend toward discordance between caregiver and self-reported outcomes. Most notably, patients reported improvement in HRQoL, while caregivers reported declines. This suggests that there may be differences in perceived quality of life between the patients and parents, though our study is limited by small sample size. CONCLUSION: Our study provides valuable insights into the impacts of psychosocial and mental health aspects of BTHS. Implications of these findings include incorporating longitudinal assessment of QoL and screening for psychological symptoms in BTHS care to identify interventions that may drastically impact health status and the course of the disease.

Key stakeholder perceptions of select forward mobile equipment pedestrian alarms.

INTRODUCTION: Workplace interactions between pedestrians and industrial mobile equipment often result in workplace fatalities. Employers are normally required to provide pedestrian warning alarms for reverse travel only, though forward travel accidents may comprise as much as 50% of all related fatalities. METHOD: This study was conducted to compare unique configurations of common pedestrian warning alarms to determine whether worker role or equipment configuration were significant independent variables of worker perception of forward alarm irritation and excellent warning characteristics, and whether forward alarms are perceived to be important. RESULTS: While worker role was not found to be a significant variable, select alarm configuration properties were found to be significant. Practical Applications: The results of the study suggest that a combination of broadband and light emitting diode devices are preferential to all other configurations studied.