Hermansky Pudlak Syndrome and Pulmonary Alveolar Proteinosis at the same patient: first case report in the world literature.

Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder presenting with oculocutaneous albinism, bleeding diathesis and lysosomal accumulation of ceroid lipofuscin which leads to interstitial fibrosis in lung. Pulmonary fibrosis which is usually associated with HPS-1 and HPS-4 subtypes usually manifests in the third/fourth decades of life representing with giant lamellar bodies of alveolar type-II-cells and their apparent degeneration causes restrictive lung disease. Pulmonary manifestation of this syndrome may lead to premature death. Pulmonary Alveolar Proteinosis(PAP) is another rare disease characterized by alveolar deposition of surfactant phospholipids and proteins secondary to defective clearance by alveolar macrophages. PAP may occur as autoimmune diseases and/or secondary to toxic inhalation, systemic infections or hematological disorders. None of the cases were reported secondary to HPS according to the best our knowledge. As well, pulmonary involvement of HPS was never reported as PAP. We report the first case of PAP in a patient with HPS.

Association of the Nramp1 gene polymorphisms and clinical forms in patients with tuberculosis.

BACKGROUND: Recent studies have reported that Nramp1 polymorphisms might have an important role in the development of tuberculosis in various populations. In this study, we aimed to determine Nramp1 polymorphisms in our patients with tuberculosis population. METHODS: We enrolled 127 patients with active tuberculosis and 116 healthy adults with similar age and gender. Peripheral blood samples were taken for determining the Nramp1 polymorphisms. By using Polymerase Chain Reaction (PCR) - Restriction Fragment Length Polymorphisms (RFLP) technique, we evaluated the polymorphisms of Nramp1 at the regions of D543N and INT4. RESULTS: We found that the Nramp1 polymorphisms at the region of D543N (OR: 0.44, 95%CI: 0.09-2.06 for GA allele) were not a risk factor for tuberculosis. Furthermore, we could not able to detect Nramp1 polymorphism at the regions of INT4 (OR: 0.97, 95%CI: 0.55-1.72 for GC allele and OR: 0.90, 95%CI: 0.21-3.77 for CC allele). CONCLUSION: The findings of the present study do not support the hypothesis that Nramp1 at the regions of D543 and INT4 might play a role in influencing the growth of bacilli and progression of cavitary tuberculosis rather than susceptibility to M. tuberculosis infection. Future studies are needed to elucidate the role of Nramp1 variants in the pathogenesis of tuberculosis (Tab. 3, Ref. 29).

Plasma homocysteine level and 677C-->T mutation on the MTHFR gene in patients with venous thromboembolism.

BACKGROUND: The aim of this study was to evaluate the role of plasma total homocysteine level and 677C-->T mutation on the methylenetetrahydrofolate reductase (MTHFR) gene in the development of venous thromboembolism. METHODS: Thirty-six (18 male, 18 female and mean+SD; 48.3 +/- 15.5 years) patients with venous thromboembolism and 25 healthy adults (13 male, 12 female and mean +/- SD; 46.8 +/- 9.2 years) were included in the study. Fasting plasma total homocysteine level was determined by a high performance liquid chromatography. 677C-->T mutation on the MTHFR gene in peripheral blood was detected by Real Time-PCR method. RESULTS: The level of plasma total homocysteine (18.5 +/- 10.6 micromol/L) was significantly higher in patients with venous thromboembolism than in the control group (11.0 +/- 4.7 micromol/L) (p=0.015). 677C-->T mutation on the MTHFR gene heterozygosity was higher in the patient group than in the control group [13 (36.1%) and 2 (8%) respectively] but this difference was not significant (p=0.07). CONCLUSION: It is thought that a high plasma total homocysteine may cause venous thromboembolism (Tab. 2, Ref. 21). Full Text (Free, PDF) www.bmj.sk.

Does the expired-air carbon monoxide level reflect the severity of inflammation in COPD?

OBJECTIVES: The aim of this study is to evaluate the expired-air carbon monoxide level which relates to the severity of inflammation in patients with chronic obstructive pulmonary disease (COPD). DESIGN: Cross sectional study. SETTING: Cukurova University, Faculty of Medicine, Department of Chest Disease, Out-patient clinic. PATIENTS: The characteristics of patients enrolled in this study were following; 20 ex-smokers with stable COPD (mean age: 68.8 +/- 7.2 years, FEV1: 45.6 +/- 16.6% of predicted), 22 current smokers with stable COPD (mean age: 58.7 +/- 8.2 years, FEVI: 57.5 +/- 20.9% of predicted), 20 healthy smokers (mean age: 55.916.0 years, FEVI: 86.7 +/- 14.2% of predicted), and 20 healthy non-smokers (mean age: 60.8 +/- 9.2 years, FEV1: 95.3 +/- 13.5% of predicted). INTERVENTION: CO level was measured in expired-air. MEAAUREMENT AND RESULTS: The measurement of expired-air CO level was measured by DisCOver, carbon monoxide analyser. It is known that the level of expired-air carbon monoxide in healthy smokers (11.8 +/- 6.4 ppm) and in current smokers with COPD (11.1 +/- 7.4 ppm) is higher than in healthy non-smokers (1.7:0.7 ppm) and in ex-smokers with COPD (2.0 +/- 1.8 ppm) (p = 0.0001). CONCLUSION: We assumed that the level of expired-air carbon monoxide may not useful in assessing the severity of inflammation in COPD (Tab. 1, Fig. 2, Ref. 23).

The oxidant-antioxidant balance in mild asthmatic patients.

We investigated the oxidant-antioxidant balance and the effect of inhaled corticosteroids on this balance in mild stable asthmatics. Included in the study were 30 mild asthmatic patients (11 male, 19 female, mean age (year) +/- SD: 35.1 +/- 9.7) and 26 healthy adults (7 male, 19 female, mean age (year) +/- SD: 40.8 +/- 13.3). In all study groups, the peripheral venous blood samples were taken for plasma malonyldialdehyde (MDA), a parameter of lipid peroxidation caused by the oxidants, and erythrocyte superoxide dismutase (SOD), an antioxidant enzyme. The mean plasma MDA level was lower in the asthmatic group (5.7 +/- 1.2 nmol/ml) than in the healthy group (6.3 +/- 1.7 nmol/ml); and the mean erythrocyte SOD level was higher in asthmatic group (1086.4 +/- 247.4 U/gHb) than in the healthy group (1028.0 +/- 230.0 U/gHb). However, there were no significant differences in measurements of both plasma MDA levels and erythrocyte SOD enzyme activities between the groups (respectively, p = 0.1 and p = 0.4). When asthmatic patients were divided into subgroups as "inhaled steroid user" and "no inhaled steroid user", no significant differences were observed in the measurements of either plasma MDA level or erythrocyte SOD enzyme activity between the mentioned subgroups. According to the results of our study, we can say that oxidant-antioxidant balance is not significantly affected in mild asthmatics or measurement of plasma level of MDA and erythrocyte SOD enzyme activity is not sensitive to the oxidant-antioxidant balance in mild asthmatics.

Basaloid large cell lung carcinoma presenting concurrently with metastatic uveal tumor.

A 51-year-old man complaining of cough, hemoptysis, and decreased visual acuity was admitted to our hospital. Chest radiography revealed a left hilar mass and pleural effusion in the left hemithorax. In his ophtalmological examination, there was total retinal detachment in the left eye. Ultrasonographic examination and orbital magnetic resonance imaging (MRI) were reported as choroidal metastasis. A computed tomography (CT) confirmed the mass in the left hilum and multiple mass lesions consistent with metastasis in the liver and in the body of 12th thoracic vertebra. Bronchoscopic biopsies revealed large cell carcinoma with basaloid features. He died after 4 months with rapid progression of the disease in spite of combined chemotherapy. Although primary lung cancer with concurrent eye metastasis is an uncommon entity, it should always be kept in mind for patients with ocular symptoms.