Advances in neurometabolic therapy

Recent Advances in Hemophilia Gene Therapy

Heterogeneous loss of function mutations at F8 and F9 genes causes X-linked recessive bleeding disorders, hemophilia A (HA) and hemophilia B (HB), respectively. HA is clinically indistinguishable from HB and accounts for more than 80% of hemophilia cases; the former affects 1/5000 and the latter 1/25000 male births worldwide. In Iran, it is estimated that around 4300 HA and 900 HB patients are ...

advances in antifungal therapy

Neurometabolic Disease: Case Report

Introduction Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance (1). This neurodegenerative disorder is caused by a defect in the aspartoacylase (ASPA) gene encoding the critical enzyme aspartoacylase, which has the role of hydrolyzing N-acetyl-L-aspartic acid (NAA) and providing the acetyl group to oligodendrocytes for myelin synthesis (2, 3). Asp...

In vivo neurometabolic profiling in orthostatic tremor

The pathogenesis of orthostatic tremor (OT) remains unclear, although some evidence points to dysfunction in the brainstem or cerebellum. We used single voxel proton magnetic resonance spectroscopy (1H-MRS) (3 T) to investigate whether neurochemical changes underlie abnormal cerebellar or cortical function in OT. Fourteen OT patients and 14 healthy controls underwent 1H-MRS studies with voxels ...

Advances in antiretroviral therapy.

The 14th Conference on Retroviruses and Opportunistic Infections provided a forum for presentation of state-of-the-art research on antiretroviral therapy. This year's conference marked the first public presentation of phase III trials of the lead compounds in 2 new drug classes: maraviroc (a CCR5 inhibitor) and raltegravir (an HIV-1 integrase inhibitor). These agents are likely to be approved b...