Neurogenic bowel treatments and continence outcomes in children and adults with myelomeningocele.

PURPOSE: Neurogenic bowel dysfunction (NBD) is a common comorbidity of myelomeningocele (MMC), the most common and severe form of spina bifida. The National Spina Bifida Patient Registry (NSBPR) is a research collaboration between the CDC and Spina Bifida Clinics. Fecal continence (continence) outcomes for common treatment modalities for NBD have not been described in a large sample of individuals with MMC. NSBPR patients with MMC and NBD were studied to determine variation in continence status and their ability to perform their treatment independently according to treatment modality and individual characteristics. METHODS: Continence was defined as < 1 episode of incontinence per month. Eleven common treatments were evaluated. Inclusion criteria were established diagnoses of both MMC and NBD, as well as age ⩾ 5 years (n= 3670). Chi-square or exact statistical tests were used for bivariate analyses. Logistic regression models were used to estimate the odds of continence outcomes by age, sex, race/ethnicity, level of motor function, and insurance status. RESULTS: At total of 3670 members of the NSBPR met inclusion criteria between November 2013 and December 2017. Overall prevalence of continence was 45%. Prevalence ranged from 40-69% across different treatments. Among continent individuals, 60% achieved continence without surgery. Antegrade enemas were the most commonly used treatment and had the highest associated continence rate. Ability to carry out a treatment independently increased with age. Multivariable logistic regression showed significantly higher odds of continence among individuals aged ⩾ 12 years, female, non-Hispanic white, and with private insurance.

Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults.

BACKGROUND: The association between blood homocysteine concentration and the risk of cardiovascular disease (CVD) remains controversial, but few studies have examined the association between MTHFR C677T (a proxy for high homocysteine concentration) and death from CVD. OBJECTIVE: The objective was to examine associations of MTHFR C677T, a proxy for high homocysteine concentrations, with CVD mortality and with all-cause mortality in a national representative prospective cohort of the US adult population before the introduction of mandatory folic acid fortification of flour. DESIGN: We used Mendelian randomization to examine the association of MTHFR C677T with cause-specific mortality in 5925 participants by accessing the NHANES III (1991-1994) Linked Mortality File (through 2006). RESULTS: A comparison of homozygotes at baseline showed that individuals with a TT genotype had a 2.2-µmol/L higher homocysteine and a 1.4-ng/mL lower folate concentration, respectively, than did those with a CC genotype. The TT genotype frequency varied from 1.2% (95% CI: 0.7, 2.0) in non-Hispanic blacks and 11.6% (95% CI: 9.6, 14.0) in non-Hispanic whites to 19.4% (95% CI: 16.7, 22.3) in Mexican Americans. After adjustment for ethnic group and other CVD risk factors, the MTHFR C677T TT genotype was associated with significantly lower CVD mortality (HR: 0.69; 95% CI: 0.50, 0. 95) but had no significant effect on all-cause mortality (HR: 0.79; 95% CI: 0.59, 1.05). After stratification by period of follow-up, the inverse association of MTHFR with CVD mortality was significant only in the period after introduction of mandatory folic acid fortification. CONCLUSION: The inverse association of MTHFR with CVD mortality was unexpected and highlights the need for caution in interpretation of Mendelian randomization studies, which, like other observational studies, can be influenced by chance, bias, or confounding.

Prevalence, family history, and prevention of reported osteoporosis in U.S. women.

BACKGROUND: Osteoporosis is a major public health concern and has been associated with a family history positive for the condition. However, data on the behaviors of individuals with such a family history are scarce. The objectives of this study were to assess the relationship between the prevalence of reported physician-diagnosed osteoporosis and family history in a representative sample of U.S. women, examine whether osteoporosis risk factors account for this relationship, and evaluate the likelihood that women at high risk of osteoporosis due to family history report preventive behaviors. METHODS: The prevalence of reported osteoporosis was estimated in 8073 women aged>or=20 years in the National Health and Nutrition Examination Survey, 1999-2004. Information on osteoporosis in first-degree relatives and grandparents was obtained during interviews. RESULTS: The prevalence of osteoporosis in participants was 7.94%. In 19.8% of them, a positive family history was reported and was significantly and independently associated with osteoporosis (AOR 2.35, 95% CI=1.87, 2.96). This association was stronger when two or more relatives were affected (AOR 8.48, 95% CI=4.50, 15.99). After stratification by age, the association was observed only in women aged>or=35 years. Women with a family history of osteoporosis were more likely than those with none to report preventive behavior, such as taking supplements of calcium, vitamin D, or both; physical activity; and estrogen use. CONCLUSIONS: These findings indicate that family history is a significant, independent risk factor for osteoporosis in U.S. women aged>or=35 years. Further studies are warranted to evaluate family history as a convenient and inexpensive tool for identifying women at risk of osteoporosis and for promoting the adoption of preventive behaviors.