The Global Burden of Neural Tube Defects and Disparities in Neurosurgical Care.

BACKGROUND: Despite the success of folic acid fortification programs, neural tube defects (NTDs) such as spina bifida, encephalocele, and anencephaly remain among the most substantial causes of childhood morbidity and mortality worldwide. Although these are complicated conditions that require an interdisciplinary approach to care, definitive treatment of survivable NTDs is often neurosurgical. METHODS: Using Global Burden of Disease data, we examined the global burden of NTDs as related to a nation's wealth, health care quality, and access to neurosurgical care. We abstracted data for death by cause, years lived with disability (YLD), gross domestic product (GDP), United Nations geoscheme, Food Fortification Initiative participation, and Healthcare Access and Quality Index. We compared means using 1-way analysis of variance and proportions using Fisher exact tests, with statistical significance as α = 0.05. RESULTS: Seventeen of 20 (85%) nations with the most deaths caused by NTDs (P < 0.0001) and 15/20 (75%) nations with the highest YLD (P < 0.0001) were in the lowest GDP quartile. Deaths and YLD were negatively correlated with increasing GDP and Healthcare Access and Quality Index (P < 0.0001). The nations with the highest disease burdens also had the fewest neurosurgeons per capita. CONCLUSIONS: Despite the success of folic acid fortification programs, greater global public health efforts should be placed on improving access to neurosurgical care in low and middle-income nations through sustainable initiatives such as surgeon exchange programs and the establishment of neurosurgery residency training programs.

Endothelial nitric oxide synthase genotype is associated with pulmonary hypertension severity in left heart failure patients.

The biological mechanisms behind the development of pulmonary hypertension in the setting of left heart failure (HF-PH), including combined pre- and post-capillary pulmonary hypertension (Cpc-PH), remains unclear. This study aimed to use candidate polymorphisms in nitric oxide synthase (NOS) genes to explore the role of NOS in HF-PH. DNA samples from 118 patients with HF-PH were genotyped for the NOS3 rs1799983 and NOS2 rs3730017 polymorphisms. A multiple regression model was used to compare hemodynamic measurements between genotype groups. Patients with the T/T genotype at rs1799983 possessed a nearly 10 mmHg increased transpulmonary gradient (TPG) compared to those with other genotypes ( P = 0.006). This finding was replicated in an independent cohort of 94 HF-PH patients ( P = 0.005). However, when tested in a cohort of 162 pre-capillary pulmonary arterial hypertension patients, no association was observed. In a combined analysis of both HF-PH cohorts, mean pulmonary artery pressure (mPAP), diastolic pulmonary gradient (DPG), and CpcPH status were also associated with rs1799983 genotype ( P = 0.005, P = 0.03, and P = 0.02, respectively). In patients with HF-PH, the NOS3 rs1799983 polymorphism is associated with TPG, and potentially mPAP and DPG as well. These findings suggest that endothelial NOS (encoded by NOS3) may be involved in the pulmonary vascular remodeling observed in Cpc-PH and warrants further study.