RESUMO
BACKGROUND: Few charitable overseas surgical missions produce cost-effectiveness analyses of their work. METHODS: We compared the pre- and postoperative health status for 157 total hip arthroplasty (THA) patients operated on from 2007 to 2011 attended by an annual Canadian orthopedic mission to Ecuador to determine the quality-adjusted life years (QALYs) gained. The costs of each mission are known. The cost per surgery was divided by the average lifetime QALYs gained to estimate an incremental cost-effectiveness ratio (ICER) in Canadian dollars per QALY. RESULTS: The average lifetime QALYs (95% CI) gained were 1.46 (1.4-1.5), 2.5 (2.4-2.6), and 2.9 (2.7-3.1) for unilateral, bilateral, and staged (two THAs in different years) operations, respectively. The ICERs were $4,442 for unilateral, $2,939 for bilateral, and $4392 for staged procedures. Seventy percent of the mission budget was spent on the transport and accommodation of volunteers. CONCLUSION: THA by a Canadian short-stay surgical team was highly cost-effective, according to criteria from the National Institute for Health and Care Excellence and the World Health Organization. We encourage other international missions to provide similar cost-effectiveness data to enable better comparison between mission types and between mission and nonmission care.
RESUMO
Microtia is a rare, congenital malformation of the external ear that in some cases has a genetic etiology. We ascertained a three-generation family with bilateral microtia and hearing loss segregating as an autosomal dominant trait. Exome sequencing of affected family members detected only seven shared, rare, heterozygous, nonsynonymous variants, including one protein truncating variant, a HOXA2 nonsense change (c.703C>T, p.Q235*). The HOXA2 variant was segregated with microtia and hearing loss in the family and was not seen in 6,500 individuals sequenced by the NHLBI Exome Sequencing Project or in 218 control individuals sequenced in this study. HOXA2 has been shown to be critical for outer and middle ear development through mouse models and has previously been associated with autosomal recessive bilateral microtia. Our data extend these conclusions and define HOXA2 haploinsufficiency as the first genetic cause for autosomal-dominant nonsyndromic microtia.
