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.     

冠心病合并其他器质性心脏病的外科治疗

目的分析冠心病合并其他器质性心脏病的临床特点,探讨一期外科治疗的方法和临床疗效。方法分析2004年4月至2006年4月冠心病合并其他器质性心脏病患者13例,其中风湿性心脏病联合瓣膜病1例,二尖瓣病变4例,二尖瓣退行性病变3例,主动脉瓣关闭不全3例,升主动脉瘤1例,继发孔房缺1例。因冠心病首诊入院5例,以其他器质性心脏病首诊入院8例。术前有心绞痛症状者8例,无心绞痛5例。体外循环下一期外科治疗。结果无死亡病例,13例均顺利出院。冠脉搭桥+瓣膜置换8例,冠脉搭桥+瓣膜成形3例,冠脉搭桥+Bentall+室壁瘤切除1例,冠脉搭桥+房缺修补1例。手术中搭桥1～3支,平均(1.92±0.73)支。术后1周,左心室舒张末内径(LVDD)为(51.77±2.64)mm,较术前[(58.92±3.81)mm]明显缩小(P<0.05)。随访3个月,心绞痛症状完全消失,心功能(NYHA)明显提高(P<0.05)。结论冠心病合并其他器质性心脏病临床症状无特异性,容易漏诊。虽然手术风险性和难度增加,但未得到血液重建,对患者更将是致命性的灾难,应争取一期手术。     

Delayed Diagnosis of Tuberculous Arthritis

Monoarticular tuberculosis （TB） affecting the knee is rare in all forms of TB （0.1-0.3%）. We present the case of a patient with tuberculous arthritis in whom the diagnosis was belated due to a lack of familiarity with the disease; here, we emphasize the difficulties associated with the diagnosing joint TB. A 20-year-old man was referred to our department due to swelling of the right knee and the presence of persistent, mild pain for 4 years. The lack of systemic evidence of this disease, the indolent course of disease, and the presence of non- specific symptoms renders early recognition of this disease difficult. Furthermore, in cases in which a diagnosis cannot be reached simply by culturing the synovial fluid, synovial biopsy cultures should be considered m the diagnostic process, due to the high rate of positivity of such cultures. The diagnosis and treatment of articular TB are both urgent matters; surgical debridement and strict adherence to antituberculous chemotherapy tend to yield a satisfactory functional outcome.     

Iniencephaly and long-term survival: a rare case report

Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine, and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence. This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal atresia. Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think that this patient presents a mild form of iniencephaly.     

Serum iron levels in schizophrenic patients with or without akathisia.

The pathophysiology of akathisia still remains controversial. Iron deficiency was proposed to be an important factor in the development of akathisia. In the present study, it was aimed to compare levels of serum iron and linked variables in chronic akathisic (n=30), and non-akathisic patients (n=30) with schizophrenia and healthy controls (n=30) because of the controversy in the association of iron and akathisia. The Barnes Akathisia Scale for akathisia and Simpson-Angus Rating Scale for extrapyramidal side effects were used. Serum iron and linked variables and hematological profile of the patients and control subjects were determined. Serum iron levels were significantly lower both in akathisic and non-akathisic groups compared to the control group (P<0.001). Moreover, akathisic patients had significantly lower iron levels than non-akathisic patients (P<0.05). Total iron binding capacity was significantly higher in patients with akathisia compared to the control group (P<0.01). Although non-akathisic patients had a mild increase in total iron binding capacity, it was not statistically significant compared to the control group (P>0.05). Ferritin levels were determined to be significantly lower in both groups compared to the control group (P<0.01). In addition, there was a significant difference in ferritin levels between the patients with and without akathisia (P<0.05). In conclusion, our results support the hypothesis that an association between akathisia and iron metabolism exists.     

Basic aspects of implantation

Implantation, a critical step for establishing pregnancy, requires molecular and cellular events resulting in healthy uterine growth and differentiation, blastocyst adhesion, invasion and placental formation. Successful implantation requires a receptive endometrium, a normal and functional embryo at the blastocyst stage and a synchronized dialogue between maternal and embryonic tissues. In addition to the main role of sex steroids, the complexity of embryo implantation and placentation is exemplified by the number of cytokines and growth factors with demonstrated roles in these processes. Disturbances of the normal expression and action of these cytokines result in absolute or partial failure of implantation and abnormal placental formation in mice and humans. Members of the gp130 cytokine family, interleukin (IL)-11 and leukaemia inhibitory factor, the transforming growth factor-beta superfamily, colony-stimulating factors, and the IL-1 and IL-15 systems are all crucial for successful implantation. In addition, chemokines are important both in recruiting specific cohorts of leukocytes to the implantation site, and in trophoblast trafficking and differentiation. This review provides discussion on embryonic and uterine factors that are involved in the process of implantation in autocrine, paracrine and/or juxtacrine manners at hormonal, cellular, and molecular levels.     

CASE OF FASCIOLIASIS: EXTRACTION WITH ENDOSCOPIC RETROGRADE CHOLANGIOGRAPHY

Fascioliasis is a worldwide zoonotic infection with fasciola hepatica and fasciola gigantica. The zoonoses are particularly endemic in sheep‐raising countries and are also endemic in Turkey. Clinical features of fascioliasis relate to the stage and intensity of infection. Fasciola hepatica infection comprises two stages: hepatic and biliary, with different signs and symptoms. Cholestatic symptoms may be sudden, but, in some cases, they may be preceded by a long period of fever, eosinophilia and vague gastrointestinal symptoms. We reported a case with fever and upper‐quadrant abdominal pain since 3 months that comes from an area endemic for fasciola hepatica, with suspected imaging about fasciola hepatica in common bile duct on ultrasonography. After that, fasciola hepatica was extracted with endoscopic retrograde cholangiography.