Public attitude towards biomedical research at outpatient clinics of King Abdulaziz Medical City, Riyadh, Saudi Arabia.

The aim of this study was to determine the attitude of Saudi Arabians to research involving storage and use of human tissues from which genetic information may be derived and to assess their willingness to donate tissue samples to biobanks. In a cross-sectional interview study of 1051 outpatients at a hospital in Riyadh city, 68.8% had a positive attitude towards biomedical research and 78.4% were willing to allow use of excess surgical tissues for research purposes. Participants were less willing to allow the use of tissue or organs from a deceased relative. Logistic regression analysis found that predictors for a positive attitude to biomedical research and to use of tissue in research were: female sex, higher level of education, previous experience of blood testing and previous participation in health-related research. The attitudes towards biomedical research among the participants were satisfactory and comparable to findings from other countries.

Public attitude towards biomedical research at outpatient clinics of King Abdulaziz medical city, Riyadh, Saudi Arabia

The aim of this study was to determine the attitude of Saudi Arabians to research involving storage and use of human tissues from which genetic information may be derived and to assess their willingness to donate tissue samples to biobanks. In a cross-sectional interview study of 1051 outpatients at a hospital in Riyadh city, 68.8% had a positive attitude towards biomedical research and 78.4% were willing to allow use of excess surgical tissues for research purposes. Participants were less willing to allow the use of tissue or organs from a deceased relative. Logistic regression analysis found that predictors for a positive attitude to biomedical research and to use of tissue in research were: female sex, higher level of education, previous experience of blood testing and previous participation in health-related research. The attitudes towards biomedical research among the participants were satisfactory and comparable to findings from other countries

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

BACKGROUND: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1). METHODS: We screened a cohort of 117 JS subjects for AHI1 mutations by a combination of haplotype analysis and sequencing of the gene, and for the homozygous NPHP1 deletion by sequencing and marker analysis. RESULTS: We identified a total of 15 novel AHI1 mutations in 13 families, including nonsense, missense, splice site, and insertion mutations, with some clustering in the WD40 domains. Eight families were consanguineous, but no single founder mutation was apparent. In addition to the MTS, retinal dystrophy was present in 11 of 12 informative families; however, no subjects exhibited variable features of JS such as polydactyly, encephalocele, colobomas, or liver fibrosis. In contrast to previous reports, we identified two families with affected siblings who developed renal disease consistent with nephronophthisis (NPH) in their 20s. In addition, two individuals with classic NPH were found to have homozygous NPHP1 deletions. CONCLUSIONS: Overall, 11% of subjects had AHI1 mutations, while approximately 2% had the NPHP1 deletion, representing a total of less than 15% in a large JS cohort. Some preliminary genotype-phenotype correlations are possible, notably the association of renal impairment, specifically NPH, in those with NPHP1 deletions. Subjects with AHI1 mutations may be at risk of developing both retinal dystrophy and progressive kidney disease.

A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay.

The association of dysmorphic features and failure of one or more bone marrow cell lines is well known. Examples are Fanconi's anemia and Diamond-Blackfan anemia. This report describes 3 similarly affected children from consanguineous parents, all showing low birth weight, severe growth retardation, distinct facial features, microcephaly, mental retardation and onset of severe pancytopenia in infancy without increased chromosomal breakage. We conclude that these cases represent a new familial autosomal recessive bone marrow failure syndrome.