Investigation of germline variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis.

Background: Retinal capillary hemangioblastoma (RCH), while sporadic in some cases, is the most common and earliest manifestation of von Hippel-Lindau disease (VHL). This is the first report on different types of VHL variants and genotype-phenotype correlations in Iranian families with RCH.

Materials And Methods: In this prospective observational case series study, 17 families with RCH were included.

Association of RB1 rs9568036 and CDKN1A rs1801270 Polymorphisms with Retinoblastoma Susceptibility.

Purpose: To investigate the association of polymorphisms (rs9568036 and rs1801270) in the and genes with susceptibility to retinoblastoma (RB).

Methods: This case-control study was designed with 50 patients with RB and 50 controls. Polymerase chain reaction was performed to amplify the intron 17 of rs9568036 and exon 2 of rs1801270.

Treatment of 100 chronic thalassemic leg wounds by plasma-rich platelets.

Objective: Thalassemia is a heterogeneous group of congenital hemoglobinopathies caused by mutations in the globin gene complex that result in an unbalanced globin synthesis. Unmatched globin chains bind to the cytosolic surface of red blood cell membrane where they cause oxidative damage that might in part be responsible for membrane weakness. The deformability of red blood cells and hypercoagulable state in thalassemic patients have been incriminated in leg ulcer formation, as this might cause ischemia to the skin and consequently friability and ulceration.