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ObjectiveTo report a new SYT2 missense mutation causing distal hereditary motor neuropathy and presynaptic neuromuscular junction (NMJ) transmission dysfunction.MethodsWe report a multigenerational family with a new missense mutation, c. 1112T>A (p. Ile371Lys), in the C2B domain of SYT2, describe the clinical and electrophysiologic phenotype associated with this variant, and validate its pathogenicity in a Drosophila model.ResultsBoth proband and her mother present a similar clinical phenotype characterized by a slowly progressive, predominantly motor neuropathy and clear evidence of presynaptic NMJ dysfunction on nerve conduction studies. Validation of this new variant was accomplished by characterization of the mutation homologous to the human c. 1112T>A variant in Drosophila, confirming its dominant-negative effect on neurotransmitter release.ConclusionsThis report provides further confirmation of the role of SYT2 in human disease and corroborates the resultant unique clinical phenotype consistent with heriditary distal motor neuropathy. SYT2-related motor neuropathy is a rare disease but should be suspected in patients presenting with a combination of presynaptic NMJ dysfunction (resembling Lambert-Eaton myasthenic syndrome) and a predominantly motor neuropathy, especially in the context of a positive family history.

Benchmarking of the performance of states, provinces, or districts in a decentralised health system is important for fostering of accountability, monitoring of progress, identification of determinants of success and failure, and creation of a culture of evidence. The Mexican Ministry of Health has, since 2001, used a benchmarking approach based on the World Health Organization (WHO) concept of effective coverage of an intervention, which is defined as the proportion of potential health gain that could be delivered by the health system to that which is actually delivered. Using data collection systems, including state representative examination surveys, vital registration, and hospital discharge registries, we have monitored the delivery of 14 interventions for 2005-06. Overall effective coverage ranges from 54.0% in Chiapas, a poor state, to 65.1% in the Federal District. Effective coverage for maternal and child health interventions is substantially higher than that for interventions that target other health problems. Effective coverage for the lowest wealth quintile is 52% compared with 61% for the highest quintile. Effective coverage is closely related to public-health spending per head across states; this relation is stronger for interventions that are not related to maternal and child health than those for maternal and child health. Considerable variation also exists in effective coverage at similar amounts of spending. We discuss the implications of these issues for the further development of the Mexican health-information system. Benchmarking of performance by measuring effective coverage encourages decision-makers to focus on quality service provision, not only service availability. The effective coverage calculation is an important device for health-system stewardship. In adopting this approach, other countries should select interventions to be measured on the basis of the criteria of affordability, effect on population health, effect on health inequalities, and capacity to measure the effects of the intervention. The national institutions undertaking this benchmarking must have the mandate, skills, resources, and independence to succeed.

work is licensed under a Creative Commons IGO 3.0 AttributionNonCommercial-NoDerivatives (CC-IGO BY-NC-ND 3.0 IGO) license (http://creativecommons.org/licenses/by-nc-nd/3.0/igo/ legalcode) and may be reproduced with attribution to the IDB and for any non-commercial purpose, as provided below. No derivative work is allowed.Any dispute related to the use of the works of the IDB that cannot be settled amicably shall be submitted to arbitration pursuant to the UNCITRAL rules. The use of the IDB's name for any purpose other than for attribution, and the use of IDB's logo shall be subject to a separate written license agreement between the IDB and the user and is not authorized as part of this CC-IGO license.Following a peer review process, and with previous written consent by the Inter-American Development Bank (IDB), a revised version of this work may also be reproduced in any academic journal, including those indexed by the American Economic Association's EconLit, provided that the IDB is credited and that the author(s) receive no income from the publication. Therefore, the restriction to receive income from such publication shall only extend to the publication's author(s). With regard to such restriction, in case of any inconsistency between the Creative Commons IGO 3.0 Attribution-NonCommercial-NoDerivatives license and these statements, the latter shall prevail.Note that link provided above includes additional terms and conditions of the license.The opinions expressed in this publication are those of the authors and do not necessarily reflect the views of the Inter-American Development Bank, its Board of Directors, or the countries they represent. Abstract:We study the effects of conditional cash transfers to pregnant women on stillbirths and child survival in Bolivia. Payments are conditional on compliance with medically recommended prenatal care and skilled birth attendance. At a value equivalent to just 1% of monthly household consumption, the payments are the smallest amongst national cash transfer programs in Latin America. Using multiple data sources and empirical methods, we show that the intervention reduced the average rate of stillbirths by 9.5% to 22.3%, and increased the survival rates of birth cohorts exposed to the program by 3.5% to 16.8%. The causal pathways of these effects are consistent with evidence of increased utilization of recommended health care services, including early initiation of prenatal care (17%), at least four prenatal visits (16%), and skilled birth attendance (15%). Given the modest transfer amounts and considerable effects on health care utilization, we posit that final health outcomes are likely driven by the health care conditionality, rather than an income effect. The intervention is highly cost-effective, at $184.54 per DALY averted, making the program's pay-per-compliance design a promising policy alternative.JEL codes: H51, I12, I38, J18, O15.