Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. Duane syndrome can be coinherited with radial ray anomalies as an autosomal dominant trait, referred to as "Okihiro syndrome" or "Duane radial ray syndrome" (DRRS). We ascertained three pedigrees with DRRS and mapped their disease gene to a 21.6-cM region of chromosome 20 flanked by markers D20S888 and D20S102. A new member of the SAL family of proposed C(2)H(2) zinc finger transcription factors, SALL4, falls within the region. Mutation analysis of SALL4 in the three pedigrees revealed one nonsense and two frameshift heterozygous mutations. SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development.
Health care public-private partnerships (PPPs) between a government and the private sector are based on a business model that aims to leverage private-sector expertise to improve clinical performance in hospitals and other health facilities. Although the financial implications of such partnerships have been analyzed, few studies have examined the partnerships' impact on clinical performance outcomes. Using quantitative measures that reflected capacity, utilization, clinical quality, and patient outcomes, we compared a government-managed hospital network in Lesotho, Africa, and the new PPP-managed hospital network that replaced it. In addition, we used key informant interviews to help explain differences in performance. We found that the PPP-managed network delivered more and higher-quality services and achieved significant gains in clinical outcomes, compared to the government-managed network. We conclude that health care public-private partnerships may improve hospital performance in developing countries and that changes in management and leadership practices might account for differences in clinical outcomes.
In 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation. We present a third patient and review the manifestations of this condition.
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