Mother-to-Child Transmitted WT1 Splice-Site Mutation Is Responsible for Distinct Glomerular Diseases

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

Prevention of Mother to Child HIV Transmission

In Iran 8% of HIV- infected cases are women. Since most of them are young and in childbearing ages, in case of becoming pregnant and not receiving preventive measures, they can infect their child. Without Preventive measures transmission rate is 15 to 45 percent. Several factors such as sever stage of HIV and AIDS ,CD4 low count, high viral loud, acute retroviral phase, STDs, vaginal delivery, ...

A 5' splice site mutation in fucosidosis.

Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease is variable. The gene encoding lysosomal alpha-fucosidase has been mapped to ...

Sexuality, mother-child health and infectious diseases

Sexuality, mother and child health The main article is on the efficacy of traditional Chinese medicine for the treatment of premature ejaculation. The authors found that traditional Chinese medicine spray (TCMS) was safe and effective for the treatment of premature ejaculation.1 Nigerian authors on the other hand report on the prevalence and factors associated with early sexual debut among seco...

A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.

Carpenter syndrome is caused by mutations in the RAB23 gene that encodes a small GTPase of the Rab subfamily of proteins. Rab proteins are known to be involved in the regulation of cellular trafficking and signal transduction. Currently, only few mutations in RAB23 have been reported in patients with Carpenter syndrome. In this paper, we report the clinical features, molecular and functional an...