Association study of polymorphism in Thrombomodulin gene [rs1042579] with cardiovascular disease.

BACKGROUND AND AIM: Thrombomodulin (THBD) gene plays an important role in activation and control of protein C. Regulation protein C levels as an important risk factor for cardiovascular disease. Mutations in this gene can affect Thrombomodulin levels. In this study, we aimed to investigate the role of single nucleotide polymorphism (SNP) in rs1042579 THBD gene in patients with cardiovascular disease. METHODS: The samples of this case-control study consisted of 105 Iranian patients with cardiovascular disease and 95 healthy controls who enrolled from March 2017 to December 2018 in this study.  Demographic data, medical history, and para-clinical were measured, and Sanger sequencing was used for allelic discrimination. Control samples were identified and then selected for genotyping of other ARMS-PCR technique. RESULTS: Data analysis revealed that the rs1042579 polymorphism of the THBD gene was associated with a risk of coronary heart disease. Sequencing results confirmed the existence of CC homozygous, heterozygous TC and TT homozygous genotypes. TT genotype is a risk factor in patients compared to healthy controls. CONCLUSION: The results of this study showed that the rs1042579 polymorphism was associated with an increased risk of cardiovascular disease.

Cytomegalovirus DNA in non-glioblastoma multiforme brain tumors of infants.

PURPOSE: CMV antigens have been detected in some brain tumors specially glioblastoma multiforme (GBM). As brain tumors in the first years of life are among the most aggressive neoplasms with poor prognosis, novel therapeutic options like targeted therapy against virus antigens are demanded. Infantile central nervous system tumors, other than GBM, have not been so far studied for CMV. To our best knowledge, this is the first study in which the presence of CMV-DNA, as a potential viral target for therapy, in non-GBM infantile brain tumors has been investigated. METHODS: The paraffin blocks of non-GBM brain neoplasms of 36 infants (age < 24 months) who were operated on between 2006 and 2016 were examined for CMV-DNA, using real-time polymerase chain reaction (PCR). Paraffin blocks of CMV infected lung tissue were used as positive control. Extraction and amplification of ß2 microglobulin gene from each tumor tissue were carried as positive internal control. We also assayed 25 paraffin blocks of meningomyelocele for CMV DNA as negative tissue controls. RESULTS: Histopathological diagnoses consisted of 13 glial/neuroglial tumors (36.1%), 8 ependymomas (22.2%), 7 medulloblastomas (19.4%), 3 choroid plexus tumors (8.3%), 2 atypical teratoid rhabdoid tumors (5.6%), 2 embryonal CNS tumors (5.6%), and 1 germ cell tumor (2.8%). We could not detect CMV DNA in all samples examined. CONCLUSION: Although CMV may be associated with GBM, no role could be proposed for this virus in development of non-GBM infantile brain tumors. Further investigations on larger series of brain tumors should be conducted to confirm or rule out our conclusion.

Spinal Intradural Extramedullary Dermoid Cyst.

BACKGROUND: Dermoid cysts are benign congenital tumors that develop early in life. These tumors are classified by the presence of all 3 germ layers. Spinal intradural extramedullary teratoma is a rare disease, which is more common in children under 5 years of age than in adults. CASE DESCRIPTION: A 12-year-old girl with a dermoid cyst at the lower lumbar level presented with 2-month low back pain and intermittent lower extremity radicular symptoms on the right side. Magnetic resonance imaging scan of the spine revealed an intradural extramedullary mass lesion at L4-5. Surgical excision of the cyst was successfully performed. Surgical and histopathologic findings confirmed extramedullary ruptured matured teratoma. Postoperatively, the patient had remarkable clinical improvement. CONCLUSIONS: Although dermoid cysts are uncommon, they should be considered in the differential diagnosis of spinal lesions in patients with lower back pain. It can be successfully treated with surgical excision.

Serum level measurement of progranulin in relapsing-remitting multiple sclerosis and neuromyelitis optica patients.

BACKGROUND: Multiple sclerosis (MS) is a complex autoimmune disease of the central nervous system (CNS) with unknown etiology and variable clinical evolution. Although the role of serum progranulin levels in the pathogenesis of MS remains unclear, it is well known that progranulin is involved in several physiological and pathophysiological process of CNS including modulation of neurite outgrowth, neuronal differentiation, and neuronal survival. Therefore, in this study, we aimed to measure serum levels of progranulin in patients with neuromyelitis optica (NMO) and relapsing-remitting multiple sclerosis (RRMS) in comparison with healthy control subjects. METHODS: In a case-control study, plasma was collected from healthy controls (n = 37) and also patients with RRMS (n = 115) and NMO (n = 33). Serum level measurement of progranulin was performed using a sandwich ELISA method. RESULTS: The serum levels of progranulin were 65.07 ± 11.64, 56.81 ± 10.34, and 47.73 ± 10.37 in NMO and MS patients and healthy controls, respectively, showing a statistically significant difference between them (P = 0.00). Furthermore, we found a positive correlation between serum levels of progranulin and EDSS of patients (r = 0.79 and P = 0.00). CONCLUSION: The present study demonstrated that progranulin is up-regulated in MS patients and our findings strengthen the evidence for progranulin being involved in the pathogenesis of MS. However, further studies will be required to establish progranulin as an important marker for MS.