Sulhattin Arslan

Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers

The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas—middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients’ clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.

The association between methylene-tetrahydrofolate reductase gene polymorphism and lung cancer risk

This study aimed to determine the relation between methylene-tetrahydrofolate reductase (MTHFR) gene polymorphism and lung cancer risk and the frequency of this polymorphism. The study involved 64 lung cancer patients (the study group) with definitive diagnosis and 61 noncancerous subjects (the control group). MTHFR C677T and A1298C mutation analysis was made using DNA isolated from peripheric blood and multiplex PCR and reverse hybridization strip test. Eighty-four percent of the patients were male. The age, gender, and history of alcohol use of the patients and control group were statistically similar. While MTHFR 677T and 677C allele frequency was 0.33 and 0.67 in the patients respectively, it was 0.29 and 0.71 in the control group. The frequencies of MTHFR 1298C and 1298A were 0.33 and 0.67 in the patients, and it was 0.31 and 0.69 in the control group respectively. When MTHFR 677TT and 677CT genotypes were compared with 677CC genotype, lung cancer risk was 2.4 times higher in the 677TT genotype. When MTHFR 1298AC and 1298CC genotypes were compared with 1298AA genotype, lung cancer risk was 1.5 times higher in 1298CC genotype. According to the results, allele frequency of homozygote T and C was high in lung cancer patients. It was 3.05 and 1.29 times higher in smokers than in non-smokers, and 3.05 and 1.64 times higher in males than in females; 3.0 and 2.44 times higher in those with non-small cell lung cancer than in those with small-cell lung cancer.

An analysis of 214 cases of rib fractures

INTRODUCTION: Rib fractures are the most common type of injury associated with trauma to the thorax. In this study, we investigated whether morbidity and mortality rates increased in correlation with the number of fractured ribs. MATERIALS AND METHODS: Data from 214 patients with rib fractures who applied or were referred to our clinic between January 2007 and December 2008 were retrospectively evaluated. The patients were allocated into three groups according to the number of fractures: 1) patients with an isolated rib fracture (RF1) (n = 50, 23.4%), 2) patients with two rib fractures (RF2) (n = 53, 24.8%), and 3) patients with more than two rib fractures (RF3) (n = 111, 51.9%). The patients were evaluated and compared according to the number of rib fractures, mean age, associated chest injuries (hemothorax, pneumothorax, and/or pulmonary contusion), and co-existing injuries to other systems. FINDINGS: The mean age of the patients was 51.5 years. The distribution of associated chest injuries was 30% in group RF1, 24.6% in group RF2, and 75.6% in group RF3 (p<0.05). Co-existing injuries to other systems were 24% in group RF1, 23.2% in group RF2, and 52.6% in group RF3 (p<0.05). Two patients (4%) in group RF1, 2 patients (3.8%) in group RF2, and 5 patients (4.5%) in group RF3 (total n = 9; 4.2%) died. CONCLUSION: Patients with any number of rib fractures should be carefully screened for co-existing injuries in other body systems and hospitalized to receive proper treatment.

The association between plasma D-dimer levels and community-acquired pneumonia

BACKGROUND: Plasma D-dimer levels are directly related to the intra- and extra-vascular coagulation that occurs in acute and chronic lung damage in patients with community-acquired pneumonia (CAP). OBJECTIVES: This study examines the relationship between the severity of community-acquired pneumonia and D-dimer levels. In addition, the study examines the correlations among community-acquired pneumonia, the radiological extent of the disease and mortality. METHODS: The Pneumonia Severity Index was used to classify patients into five groups. Patients were treated at home or in the hospital according to the guidelines for community-acquired pneumonia. Blood samples were taken from the antecubital vein with an injector and placed into citrated tubes. After they were centrifuged, the samples were evaluated with the quantitative latex method. RESULTS: The study included 60 patients who had been diagnosed with community-acquired pneumonia (mean age 62.5 ± 11.7) and 24 healthy controls (mean age 59.63 ± 6.63). The average plasma D-dimer levels were 337.3 ± 195.1ng/mL in the outpatient treatment group, 691.0 ± 180.5 in the inpatient treatment group, 1363.2 ± 331.5 ng/mLin the intensive care treatment group and 161.3 ± 38.1ng/mL in the control group (p<0.001). The mean D-dimer plasma level was 776.1 ± 473.5ng/mL in patients with an accompanying disease and 494.2 ± 280.1 ng/mL in patients without an accompanying disease (p<0.05). CONCLUSIONS: Plasma D-dimer levels were increased even in community-acquired pneumonia patients who did not have an accompanying disease that would normally cause such an increase.

Combination and comparison of two models in prognosis of pulmonary embolism: Results from TUrkey Pulmonary Embolism Group (TUPEG) study☆

BACKGROUND Clinical parameters, biomarkers and imaging-based risk stratification are widely accepted in pulmonary embolism(PE). The present study has investigated the prognostic role of simplified Pulmonary Embolism Severity Index (sPESI) score and the European Society of Cardiology (ESC) model. METHODS This prospective cohort study included a total of 1078 patients from a multi-center registry, with objectively confirmed acute symptomatic PE. The primary endpoint was all-cause mortality during the first 30days, and the secondary endpoint included all-cause mortality, nonfatal symptomatic recurrent PE, or nonfatal major bleeding. RESULTS Of the 1078 study patients, 95 (8.8%) died within 30days of diagnosis. There was no significant difference between non-low-risk patients ESC [12.2% (103 of 754;)] and high-risk patients as per the sPESI [11.6% (103 of 796)] for 30-day mortality. The nonfatal secondary endpoint occurred in 2.8% of patients in the the sPESI low-risk and 1.9% in the ESC low-risk group. Thirty-day mortality occurred in 2.2% of patients the sPESI low-risk and in 2.2% the ESC low-risk group (P=NS). In the present study, in the combination of the sPESI low-risk and ESC model low-risk mortality rate was 0%. CONCLUSIONS The sPESI and the ESC model showed a similar performance regarding 30-day mortality and secondary outcomes in the present study. However, the combination of these two models appears to be particularly valuable in PE.

Radiografia torácica e bacteriologia na fase inicial de tratamento de 800 pacientes masculinos com tuberculose pulmonar

OBJECTIVE To evaluate chest X-rays of patients with pulmonary tuberculosis and to determine whether the extent of radiographic lesions correlates with bacteriological parameters. METHODS In this retrospective, descriptive study, we evaluated chest X-rays, as well as AFB detection by smear microscopy and culture for Mycobacterium tuberculosis, initially and during the first two months of treatment, in 800 male patients hospitalized between 1995 and the present at a 250-bed hospital in northwestern Turkey. RESULTS The initial mean ESR was 58 ± 37 mm/h. Initial sputum smears and cultures were positive in 83.8% and 89.5% of the patients, respectively. After the first month of treatment, the proportion of patients with positive sputum culture was higher among those with cavitary tuberculosis than among those with non-cavitary tuberculosis (53.7% vs. 37.7%, p < 0.001). The number of affected zones was not correlated with age, symptom duration, contact with an active tuberculosis patient, or concomitant diabetes (p > 0.05 for all) but was positively correlated with the ESR (r = 0.23, p < 0.001). During the first and second months of treatment, conversion to smear-negative status was less common in patients with bilateral involvement than in those with unilateral involvement (p < 0.001 and p = 0.002 for months 1 and 2, respectively). Disease extent did not correlate with age, symptom duration, contact with an active tuberculosis patient, or concomitant diabetes but did correlate with delayed bacteriological recovery. CONCLUSIONS Chest X-ray and bacteriology are valuable tools for the evaluation of pulmonary tuberculosis.

Tumoral tissue specific promoter hypermethylation of distinct tumor suppressor genes in a case with non­-small cell lung carcinoma: A case report

SUMMARY Objective: Non-small cell lung carcinoma is an aggressive phenomenon and the epigenetical alterations of some tumor supressor genes have been reported for the different tumor types. Case Presentation: It is presented a case report concerning a 43 years old male with NSCLC on the lower segment of the right lung. The patient underwent a diag-nostic excisional thin-needle biopsy and after the histological confirmation. We examined the promoter methylation status of some distinct tumor supressor genes in tumoral and blood tissues of the case after sodium bisulfite conversion and DNA amplification with methylation specific multiplex PCR technique. Both tissues were also searched for G to A transitions in codons 12 and 13 of the K-ras proto-oncogene. Results: Tumor specimen showed fully methyl pattern profiles for the SFRP2, p16, DAPK1 and partially hyper-methylated profile for the p53 and MGMT genes in this case with non-small lung carci-noma. Blood speicemen showed normal hypomethylated profiles for all studied TS genes. The K-ras proto-oncogene was in normal structure both in blood and tumoral spiecemens that examined. Conclusion: Results indicate that genes exhibit tumor suppressor activi-ties in blood, but exhibit epigenetic inactivation in carcinoma cell. These findings strongly support the hypothesis that epigenetic mechanisms may play an important role in the non-small cell lung carcinogenesis in human.

Combined Germline Variations of Thrombophilic Genes Promote Genesis of Lung Cancer

BACKGROUND A large variety of familiar and non-familiar lung carcinomas (LC) are caused by long term exposure to chemical carcinogens that are present in tobacco smoke. We aimed to investigate the prevalence of 5 thrombophilic germ-line mutations in patients with lung carcinomas. MATERIALS AND METHODS A total of 52 LC patients and 212 healthy controls from same population were analyzed for FV Leiden, factor V H1299R (R2), PAI-1, MTHFR C677T, MTHFR A1298C, ACE I/D, and Apo E genes and compared. RESULTS Overall, heterozygous and/or homozygous point mutations in FV Leiden Apo E2, PAI-1 and MTHFR C677T genes were associated with LC in the current cohort. There was no meaningful association between LC and ACE I/D gene markers. CONCLUSIONS The current results showed that LC is related to combined thrombophilic gene mutations and individuals with homozygosity of 4G in PAI-1 and MTHFR C677T genes and heterozygosity of FV Leiden, Apo E4 genes have a germ-line risk for LC tumorigenesis.

Does hydatid disease have protective effects against lung cancer

We hypothesized that solid tumors rarely occur in patients with hydatid disease. We obtained the serum of 14 patients diagnosed with hydatid disease, the serum of 10 patients who did not have a history of hydatid disease, and the hydatid cyst fluid from six patients. These sera and fluid samples were added at different concentrations to NCI-H209/An1 human lung small cell carcinoma cells and L929 mouse fibroblasts as a control group. Sera of patients with hydatid diseases had cytotoxic effects on NCI-H209/An1 cells, but they did not have cytotoxic effects on fibroblast cells. Sera from healthy subjects did not have a cytotoxic effect on the tumor cell line or control fibroblasts. Cyst fluid, also, did not have toxic effects on the NCI-H209/An1 cell line, but was toxic to fibroblasts up to a 1:32 dilution. Sera from patients with hydatid disease had cytotoxic effects on human small cell lung cancer cells in vitro.

Spontaneous rib fractures

Background Other than trauma, rib fracture can occur spontaneously due to a severe cough or sneeze. In this study, patients with spontaneous rib fractures were analyzed according to age, sex, underlying pathology, treatment, and complications. Methods Twelve patients who presented between February 2009 and February 2011 with spontaneous rib fracture were reviewed retrospectively. The patients’ data were evaluated according to anamnesis, physical examination, and chest radiographs. Results The ages of the patients ranged from 34 to 77 years (mean 55.91 ± 12.20 years), and 7 (58.4%) were male. All patients had severe cough and chest pain. The fractures were most frequently between 4th and 9th ribs; multiple rib fractures were detected in 5 (41.7%) patients. Eight (66.7%) patients had chronic obstructive pulmonary disease, 2 (16.7%) had bronchial asthma, and 2 (16.7%) had osteoporosis. Bone densitometry revealed a high risk of bone fracture in all patients. Patients with chronic obstructive pulmonary disease or bronchial asthma had been treated with high-dose steroids for over a year. Conclusions Spontaneous rib fracture due to severe cough may occur in patients with osteoporosis, chronic obstructive pulmonary disease, or bronchial asthma, receiving long-term steroid therapy. If these patients have severe chest pain, chest radiography should be performed to check for bone lesions.