Matrix Metalloproteinases 2 and 9 Polymorphism in Patients With Myeloproliferative Diseases: A STROBE-Compliant Observational Study

Chronic myeloproliferative disorders such as polycythemia vera (PV), essential thrombocytosis (ET), and idiopathic myelofibrosis arise from clonal proliferation of neoplastic stem cells in the bone marrow. Matrix metalloproteinases (MMPs) are a family of zinc-dependent endopeptidases that have potential to degrade all types of extracellular matrix (ECM) and also play a role in remodeling of the ECM. It is known that MMPs play a role in bone marrow remodeling.The primary goal of our study is to explore the relationship between chronic myeloproliferative diseases and some of MMP gene polymorphisms. The demonstration of a relationship will help to understand whether these polymorphisms may be a potential early diagnosis marker of the diseases.Patients were selected from outpatient clinics of Turgut Ozal University Hospital, Ankara, Turkey, between December 2010 and May 2011. Twenty-eight patients that previously diagnosed and followed-up with PV, 17 with secondary polycythemia (SP), and 12 with ET were enrolled in the study, along with a control group of 22 healthy people.DNA was isolated from peripheral blood. Using polymerase chain reaction–restriction fragment length polymorphism method, MMP2 and MMP9 gene polymorphisms were analyzed with agarose gel electrophoresis. There was a statistically significant difference between the study groups and the control group in terms of Gln279Arg polymorphisms rates of MMP9. The highest MMP9 Gln279Arg polymorphism rate was observed in the ET group. But nobody from the control group had polymorphic MMP9. There was no statistically significant difference between the groups in terms of MMP2-735 C > T polymorphism rates.In conclusion, MMP9 gene Gln279Arg polymorphism was associated with ET, SP, and PV diseases. Hence, we believe that these gene polymorphisms may play a role in the mechanism of bone marrow fibrosis and may be a factor that increases the risk of thrombosis. Illumination of the molecular basis of the relationship between MMP-thrombosis and MMP-fibrosis provides a better understanding of the pathophysiology of PV and ET diseases and will allow new approaches to diagnosis and treatment.     

Investigation of hearing loss in patients with acute brucellosis by standard and high-frequency audiometry

This study aimed to determine the effect of acute brucellosis on the auditory system. Forty-two patients with acute brucellosis were evaluated clinically, and with serological and audiological tests, before and after treatment. Hearing threshold averages were calculated at 11 different frequencies (250-8000 Hz) of the auditory airway, and statistical analysis was performed. The average hearing thresholds were > 20 dB, with standard audiometry at 6000-8000 Hz, and < 20 dB at all other frequencies. After treatment, the average auditory threshold decreased to < 20 dB at 6000-8000 Hz (p < 0.0001). Pure-tone hearing thresholds were improved at all frequencies after treatment, with statistically significant differences at all frequencies except 12,000, 14,000 and 16 000 Hz (p < 0.05). There was no permanent hearing loss caused by acute brucellosis, and hearing thresholds were restored after treatment. It was concluded that acute brucellosis affects the auditory system, especially at high frequencies, and that patients with all forms of brucellosis should be evaluated for hearing loss.     

Multiple brain metastases from malignant thymoma.

A rare case of thymic carcinoma with multiple brain metastasis is reported. In our extensive review of the literature only six of 30 reports of intracranial thymoma metastasis describe multiple metastases. A 38-year-old man presented with signs of raised intracranial pressure that had began 15 days previously. Cranial MRI revealed over 70 cystic lesions in the supra and infratentorial regions. Stereotactic biopsy was planned. On the second day of his admission he deteriorated and died the following day. The autopsy revealed a mass in the mediastinum. In the brain parenchyma were multiple cystic lesions between 0.5 and 3 cm in diameter. Histopathologically they were diagnosed as metastases from the thymic carcinoma. The mean survival with a single brain metastasis is approximately 256 days, whereas with multiple brain metastases it is only 64 days, thus treatment of this tumor demands prompt surgery whenever possible and optimal adjuvant therapy.     

Brucella peritonitis and leucocytoclastic vasculitis due to Brucella melitensis.

Brucellosis is a multisystemic disease that rarely leads to a fatal outcome. While reticuloendothelial system organs are mostly affected, peritonitis and posthepatitic cirrhosis are also complications of brucellosis, though they are very rare. Brucella spp. can also trigger immunological reactions. We report a case of brucellosis with peritonitis, renal failure and leucocytoclastic vasculitis caused by Brucella melitensis, which led to a fatal outcome. Brucellosis should be considered in the differential diagnosis of vasculitic diseases, especially in endemic areas.