Safe Motherhood Applied Research and Training (SMART) Report 2: The interventions

The Safe Motherhood Applied Research and Training (SMART) project, an operations research project designed to develop and test interventions to reduce maternal, perinatal, and neonatal mortality and morbidity in predominantly rural districts of Pakistan, was a three-year project (2003 to 2006) funded by the European Union. The study area was in the district of Dera Ghazi Khan; the control area was in the district of Layyah. The project focused on three areas to accomplish its goals: empowering women to seek appropriate and timely general, maternal, and newborn care; supporting methods that encourage men to play a positive and active role in decision-making and seeking care for their families in matters relating to maternal and newborn care; and improving and strengthening health services. The project had two intervention sites and one control site to look at the impact of two different interventions (within communities and within health facilities). It was expected that project results would be useful to others working toward reducing maternal, perinatal, and neonatal mortality and morbidity, nationally and internationally. The interventions and findings from this study are published in six reports, of which this is Report 2: The Interventions

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa

Contains fulltext : 108208.pdf (publisher's version ) (Open Access)PURPOSE: To identify the genetic defects underlying retinitis pigmentosa (RP) in Pakistani families. METHODS: Genome-wide high-density single-nucleotide-polymorphism microarray analysis was performed using the DNA of nine affected individuals from two large families with multiple consanguineous marriages. Data were analyzed to identify homozygous regions that are shared by affected sibs in each family. Sanger sequencing was performed for genes previously implicated in autosomal recessive RP and allied retinal dystrophies that resided in the identified homozygous regions. Probands from both families underwent fundus examination and electroretinogram measurements. RESULTS: The tubby-like protein 1 gene (TULP1) was present in the largest homozygous region in both families. Sequence analysis identified a previously reported mutation (c.1138A>G; p.Thr380Ala) in one family and a novel pathogenic variant (c.1445G>A; p.Arg482Gln) in the other family. Both variants were found to be present in a homozygous state in all affected individuals, were heterozygous present in the unaffected parents, and heterozygous present or absent in normal individuals. Affected individuals of both families showed an early-onset form of RP. CONCLUSIONS: Homozygosity mapping, combined with candidate-gene analysis, successfully identified genetic defects in TULP1 in two large Pakistani families with early-onset retinitis pigmentosa