X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients. We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions.

Uganda: improving maternal health care efficiency and financing.

PIP: This article presents the findings of the Partnerships for Health Reform on the efficiency and financing issues of maternal health services of the Ugandan Ministry of Health. A comparison was made between provider and consumer maternal health service expenditures provided by a public and a mission hospital and center, and by 17 private midwives and 20 traditional birth attendants (TBAs). The six areas covered by the study include antenatal care, normal deliveries, cesarean deliveries, postabortion care and postpartum hemorrhage and eclampsia complications. Greater health service cost was noted among mission hospitals compared with public hospitals and health centers, while prices for cesarean deliveries and treatment of obstetrical complications are higher compared with other maternal health services. Records show relative efficiency indications of the various providers, while quality of services were noted among midwives working in hospitals and centers compared with TBAs. Most consumer costs were observed to be lower compared with other care-related expenses except for mission health care cost. Thus, mission facilities recover more financially compared with public health centers and hospitals. Key actions suggested include: increasing health service utilization, streamlining staffing, improving the drug supply, employing midwives, assessing prescription practices, establishing specific times for check-ups, regulating consumer fees and provision of contracting arrangements, intensifying performance incentives, and evaluating user incomes and the ability of the public to pay for health care services.^ieng

Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1.

Over 100 distinct disease-associated mutations have been identified in the breast-ovarian cancer susceptibility gene BRCA1. Loss of the wild-type allele in > 90% of tumors from patients with inherited BRCA1 mutations indicates tumor suppressive function. The low incidence of somatic mutations suggests that BRCA1 inactivation in sporadic tumors occurs by alternative mechanisms, such as interstitial chromosomal deletion or reduced transcription. To identify possible features of the BRCA1 genomic region that may contribute to chromosomal instability as well as potential transcriptional regulatory elements, a 117,143-bp DNA sequence encompassing BRCA1 was obtained by random sequencing of four cosmids identified from a human chromosome 17 specific library. The 24 exons of BRCA1 span an 81-kb region that has an unusually high density of Alu repetitive DNA (41.5%), but relatively low density (4.8%) of other repetitive sequences. BRCA1 intron lengths range in size from 403 bp to 9.2 kb and contain the intragenic microsatellite markers D17S1323, D17S1322, and D17S855, which localize to introns 12, 19, and 20, respectively. In addition to BRCA1, the contig contains two complete genes: Rho7, a member of the rho family of GTP binding proteins, and VAT1, an abundant membrane protein of cholinergic synaptic vesicles. Partial sequences of the 1A1-3B B-box protein pseudogene and IFP 35, an interferon induced leucine zipper protein, reside within the contig. An L21 ribosomal protein pseudogene is embedded in BRCA1 intron 13. The order of genes on the chromosome is: centromere-1FP 35-VAT1-Rho7-BRCA1-1A1-3B-telomere.