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  • Author: Ozlem Giray x
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Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

Abstract

The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to now, there are more than 500 pathogenic mutations identified in the literature. We report two patients diagnosed with CHARGE syndrome with two novel mutations in the CHD7 gene: the first patient has double consecutive novel mutations in three adjacent codons, and the other has a novel insertion.

Open access
Hyperbaric Oxygen Treatment is Associated with Lipid Inflammatory Response Assessed Uding Serum Platelet Activating Factor

Abstract

Hyperbaric oxygen (HBO) treatment is generally a relatively safe therapy for various conditions. However, there are some adverse side effects. For example HBO tratment has been reported to increase the production of free oxygen radicals(FRs). Furthermore, to our knowledge, no previous clinical research has been carried out to study the involvement of platelet-activating factor(PAF)as the lipid oxidative stressor in patients undergoing HBO treatment. A total of 45 patients included in this study were first given clinical assessment and laboratory measurements before starting HBO treatment and were named group baseline. After the HBO treatment, the same clinical and laboratory measurements from the same patients were repeated and this was named group sesion >20.As expected, long-term HBO treatment had no effect on oxLDL (oxidized low-density lipoprotein), a lipid oxidative stress(OS) marker. However, the mean PAF values in the second group showed a statistically significant increase compared to their pretreatment values, (P <0. 002).As this is a preliminary study, there is a need for more detailed investigations that demonstrate the association of HBO treatment with the lipid inflammatory response. Therefore, there is need for further clinical study for OS markers such as oxLDL in HBO treatment. Clinical prospective studies are required to confirm our laboratory findings.

Open access