Spina Bifida Resource Network

Introduction: Since preconceptional folic acid (FA) supplementation is known to reduce the risk of fetal spina bifida (fSB), the aim of this study was to systematically analyze the FA supplementation in a cohort of women with fSB repair in affected and subsequent pregnancies. Methods: A total of 198 women, that underwent open fSB repair between 2010 and 2023, were compared in two groups (group 1 = correct FA and group 2 = incorrect FA preconceptionally) regarding maternal and fetal characteristics. Additionally, compliance to high dose FA supplementation in subsequent pregnancies was analyzed. Results: Sixty-five women (32.8%) had correct preconceptional FA supplementation (group 1), and 63 women (31.8%) had incorrect FA supplementation (group 2). The two groups did not significantly differ regarding maternal and fetal characteristics. Thirty-nine women had 48 subsequent pregnancies. FA was initiated prior to conception in 35 (72.9%) of these pregnancies, in 9 (18.7%) cases, FA supplementation was incorrect. Conclusion: This study focuses on better awareness of FA supplementation as correct FA supplementation was low in women with fSB and suboptimal in high-risk situations after fSB pregnancies. However, these results also show that 1/2 of fSB occurs despite correct FA intake; thus, further research is needed to better understand the complex, multifactorial causes of this debilitating condition.

ABSTRACT Development of fully protective dengue virus (DV) vaccines has been problematic as infection with DV requires a broad antibody immune response that targets all 4 possible serotypes. Herein, we used an integrated systems vaccinology approach to identify prevaccination features that allow the development of fully protective DV-specific antibody responses. This approach allowed us to identify a transcription network in a subset of monocytes defined by the expression of CD68 and downstream of specific pro- and anti-inflammatory cytokines. Moreover, we identified metabolites as drivers of an immune response that induced neutralizing antibodies to the 4 DV serotypes. Specifically, PC/PE drove the production of TGF-B in CD68 low monocytes, which was a positive correlate of the protective antibody response. In contrast, primary and secondary bile acids triggered a proinflammatory response downstream of TGR5 signaling and inflammasome activation in CD68 high monocytes, which was associated to a non-protective antibody response. These features were validated in vitro in primary myeloid cells. Our results highlight the role of cell and systemic metabolism as regulators of protective immune responses to vaccination, and that systems vaccinology is a key tool to identify such mechanisms.

Symptoms are among the most important factors impacting quality of life (QOL) in hypertrophic cardiomyopathy (HCM) patients, and reflect a poor prognosis. Whether emotional stress can trigger symptoms of chest pain, dyspnea, palpitations, and lightheadedness has not been described. Members of the Hypertrophic Cardiomyopathy Association (HCMA) received an electronic link via e-mail to an ongoing online survey, also accessed via links on the HCMA message-board and homepage. Between May 2007 and November 2008, there were 1,297 respondents. The survey queried demographic and self-reported clinical information, and types and triggers of symptoms. Respondents reported physical and emotional QOL on a 1-10 Likert scale. Symptoms reported included chest pain (49%), dyspnea (70%), palpitations (61%), and syncope/lightheadedness (59%). The most common symptom trigger was exertion, 64% describing symptoms while climbing stairs or hills. Forty-nine percent described experiencing symptoms during emotional stress. Those reporting chest pain were more likely to report emotion triggering (60%) than those reporting palpitations, syncope/lightheadedness, or dyspnea (50-54% each). Both physical and emotional QOL were significantly decreased in those describing emotion-triggered symptoms. Women were more likely than men to report symptoms overall, as well as emotion-triggered symptoms (50% vs 35%, P < 0.001) and exertion-triggered symptoms (79% vs 58%, P < 0.001). After controlling for presence of symptoms, both emotion- and exertion-triggered symptoms remained significantly more common in women. Triggering of symptoms by emotion is common in individuals with HCM. Further studies will determine pathways linking emotional stressors with chest pain, dyspnea, palpitations, and lightheadedness in these patients.

Hypertrophic cardiomyopathy (HCM) is a genetic disease of the heart muscle that affects 1 in 500 people. HCM is highly heterogeneous in its clinical presentation and severity. HCM research has typically been carried out using hospital-based and referral populations. The Hypertrophic Cardiomyopathy Association (HCMA) is a patient support group founded in 1996. The HCMA membership and related database represent a large, heterogeneous, and diverse nonhospital and nonreferral-based HCM patient population. To examine gender disparities in self-reported symptom and medication patterns among HCM patients participating in the HCMA database, HCMA patient information was entered into an Access database. Patients were added to the HCMA database when they joined or requested information from the HCMA. Consenting patients were interviewed by phone or mailed an intake survey. Information was available for 1228 HCM patients from 49 states and 32 countries (549 females, 679 males). Females were significantly more likely to report a family history of HCM to experience chest pain, fatigue, lightheadedness, and palpitations and to be taking non-HCM-related medications. In terms of symptom clustering, 44.9% of females had four or five symptoms vs. 31.4% of the males. The HCMA patient database represents a nonhospital-based patient cohort useful in scientific investigations of HCM. Observed gender-related disparities in HCM symptom profiles are significant but are subject to the design and self-report-based limitations of the HCM database.

This is a list of scientific terms commonly used with regard to HCM, defined in a relatively straightforward fashion, but avoiding medical jargon, as much as possible.Some of these terms are also defined in the text, and are repeated here for completeness.Ambulatory: Refers to tests performed when a person engages in their normal daily activities.Aneurysm: A bulging outward of the left ventricular wall due to thinning and scarring in that area.Angina: Chest pain, pressure, or discomfort usually brought on by exertion and relieved by rest.Angina results from insufficient oxygen supply to the heart muscle.Angiography: An X-ray of the heart and blood vessels obtained at the time of cardiac catheterization with the injection of contrast dye.This test may be performed to assess the anatomy of the coronary arteries (blood vessels which supply the heart muscle).Anticoagulation: Treatment to reduce the potential of blood to form clots (e.g., with heparin or warfarin).Such treatment is employed when there is a risk of clot formation in the heart, such as in the atria associated with atrial fibrillation. Aorta:The main blood vessel which arises from the left ventricle and carries blood from the heart to the rest of the body. Apex:The bottom portion of the heart; the tip of the left ventricle.Arrhythmia: An abnormal rhythm or irregularity of the heartbeat.The heartbeat may either be too fast (tachycardia) or too slow (bradycardia).Arrhythmias may cause symptoms such as palpitation or lightheadedness or many have more serious consequences including sudden death. Atria:The two filling chambers of the heart, one on the right and one on the left.Blood is collected in the atria while the ventricles are contracting.This blood is then released from the atria into the ventricles when they are ready to fill.