Background and Objectives: Multiple Sclerosis is a disease characterized by multifocal areas of demyelination in the brain and spinal cord, with associated inflammatory cell infiltrates, reactive gliosis, and axonal degeneration. It typically presents in young adults with episodic neurologic dysfunction, our aim is to find new simple method to treat multiple sclerosis by hematopoietic stem cells derived from peripheral blood. Methods and Results: 50 patients suffering from multiple sclerosis worsening despite pharmacological treatment were treated by means of several intrathecal injections of peripheral blood cells harvested by aphaeresis after G-CSF(granulocyte colony stimulating factor) treatment. 24 patients (48%) had a reduction of EDSS score. 8 patients had a relapse, but it was milder than usual and more easily controlled by cortisone. Conclusions: Since mesenchymal cells increase in the peripheral blood after G-CSF stimulation, a peripheral blood harvest seems easier and cheaper than mesenchymal cells cultivation prior to the injection. It seems a reasonable treatment for progressive multiple sclerosis.
The aim was to determine the prevalence of compound genetic abnormalities in patients who are carriers of cystic fibrosis transmembrane regulator (CFTR) gene polymorphism and to compare our results with similar patients reported in the literature. One hundred and nine patients were identified to be carriers of CFTR gene polymorphism. Additional genetic testing for karyotype abnormalities or Y chromosome microdeletions (YMD) was performed. Three patients (2.75%) of 109 were identified to have compound genetic abnormalities. One patient had 5T/5T while the other had 6T/6T and the third had 9T/9T. The three patients had deletions of azoospermia factor regions (AZFa+b or AZFa+b+c). There were no karyotype abnormalities identified in our database. In the literature, four patients with compound CFTR mutations and YMD were identified, in three patients had karyotype abnormalities. In conclusion, compound genetic abnormalities in CFTR mutation patients can be a contributing factor when abnormal spermatogenesis is encountered.
In this study, we analyzed 70 patients with worsening multiple sclerosis despite pharmacologic treatment who were treated with several intrathecal injections of peripheral blood cells harvested by apheresis after granulocyte-colony stimulating factor treatment. Thirty-seven patients (52%) had a reduction of Expanded Disability Status Scale score; 10 patients had relapses, although these were milder than usual and more easily controlled by corticosteroids. Because mesenchymal cells increase in the peripheral blood after granulocyte-colony stimulating factor stimulation, a peripheral blood harvest seems easier and less costly than mesenchymal cell cultivation before injection. This seems to be a reasonable treatment for progressive multiple sclerosis.
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