Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The homozygous absence of SMN1 exon 7 has been observed in the majority of patients and is being utilized as a reliable and sensitive SMA diagnostic test. Treatment and prevention of SMA are complementary responses to the challenges presented by SMA. Even though a specific therapy for SMA is not currently available, a newborn screening test may allow the child to be enrolled in a clinical trial before irreversible neuronal loss occurs and enable patients to obtain more proactive treatments. Until an effective treatment is found to cure or arrest the progression of the disease, prevention of new cases through accurate diagnosis and carrier and prenatal diagnosis is of the utmost importance. The goal of population-based SMA carrier screening is to identify couples at risk for having a child with SMA, thus allowing carriers to make informed reproductive choices. During this study we performed two pilot projects addressing the clinical applicability of testing in the newborn period and carrier screening in the general population. We have demonstrated that an effective technology does exist for newborn screening of SMA. We also provide an estimate of the carrier frequency among individuals who accepted carrier screening, and report on patient's knowledge and attitudes toward SMA testing.

This paper analyzes two case studies of short-term medical missions to Latin America. Its conclusions suggest that when such projects are evaluated in terms oftheir impact upon the health status ofthe local population or health care delivery systems, they are found to have insignificant and even negative consequences. The shortcomings of these short-term efforts reflect the cultural assumptions that inform their design and implementation, rather than local health realities. Recommendations are suggested to increase the effectiveness of these missions in terms of the health needs of local populations.

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There was no gender difference for persistent smoking/relapse following a diagnosis or hospitalization for CHD, but the rate was high in both female and male smokers. Therefore, similar, sustained smoking cessation efforts are warranted for both genders.

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