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1.
Int J Chron Obstruct Pulmon Dis ; 18: 2785-2794, 2023.
Article in English | MEDLINE | ID: mdl-38046982

ABSTRACT

Purpose: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition characterized by decreased serum alpha-1 antitrypsin (AAT) levels. We aim to identify AATD in patients with chronic obstructive pulmonary disease (COPD), bronchiectasis, or asthma and to report the frequency of AAT variants in Turkey. Patients and Methods: This non-interventional, multicenter, prospective study was conducted between October 2021 and June 2022. Adult patients with COPD, bronchiectasis, asthma, liver symptoms, or family members with AATD were included. Demographic and clinical characteristics, pulmonary diagnosis, respiratory symptoms, and AAT serum levels were assessed. Whole blood samples were collected as dried blood spots, and the most common AATD mutations were simultaneously tested by allele-specific genotyping. Results: A total of 1088 patients, mainly diagnosed with COPD (92.7%) and shortness of breath (78.7%), were assessed. Fifty-one (5%) were found to have AATD mutations. Fifteen (29.4%) patients had Pi*S or Pi*Z mutations, whereas 36 (70.6%) patients carried rare alleles Pi*M malton (n=18, 35.3% of mutations), Pi*I (n=8, 16%), Pi*P lowell (n=7, 14%), Pi*M heerlen (n=2, 4%), and Pi*S iiyama (n=1, 2%). The most common heterozygous combinations were Pi*M/Z (n=12, 24%), and Pi*M/M malton (n=11, 22%). Ten patients with severe AATD due to two deficiency alleles were identified, two with the Pi*Z/Z genotype, four with the genotype Pi*M malton/M malton, three with Pi*Z/M malton, and one with Pi*Z/M heerlen. Conclusion: Our results identified AATD mutations as a genetic-based contributor to lung disease in patients with COPD or bronchiectasis and assessed their frequency in a population of Turkish patients.


Subject(s)
Asthma , Bronchiectasis , Pulmonary Disease, Chronic Obstructive , alpha 1-Antitrypsin Deficiency , Adult , Humans , Pulmonary Disease, Chronic Obstructive/diagnosis , Pulmonary Disease, Chronic Obstructive/genetics , Pulmonary Disease, Chronic Obstructive/epidemiology , Prospective Studies , Turkey/epidemiology , alpha 1-Antitrypsin Deficiency/complications , alpha 1-Antitrypsin Deficiency/diagnosis , alpha 1-Antitrypsin Deficiency/epidemiology , alpha 1-Antitrypsin/genetics , Bronchiectasis/diagnosis , Bronchiectasis/epidemiology , Bronchiectasis/genetics
2.
Sarcoidosis Vasc Diffuse Lung Dis ; 39(1): e2022006, 2022.
Article in English | MEDLINE | ID: mdl-35494165

ABSTRACT

Introduction: The aim of our study is to investigate the etiological distribution of ILD in Turkey by stratifying the epidemiological characteristics of ILD cases, and the direct cost of initial diagnosis of the diagnosed patients. Material-Method: The study was conducted as a multicenter, prospective, cross-sectional, clinical observation study. Patients over the age of 18 and who accepted to participate to the study were included and evaluated as considered to be ILD. The findings of diagnosis, examination and treatment carried out by the centers in accordance with routine diagnostic procedures were recorded observationally. Results: In total,1070 patients were included in this study. 567 (53%) of the patients were male and 503 (47%) were female. The most frequently diagnosed disease was IPF (30.5%). Dyspnea (75.9%) was the highest incidence among the presenting symptoms. Physical examination found bibasilar inspiratory crackles in 56.2 % and radiological findings included reticular opacities and interlobular septal thickenings in 55.9 % of the cases. It was observed that clinical and radiological findings were used most frequently (74.9%) as a diagnostic tool. While the most common treatment approaches were the use of systemic steroids and antifibrotic drugs with a rate of 30.7% and 85.6%, respectively. The total median cost from the patient's admission to diagnosis was 540 Turkish Lira. Conclusion: We believe that our findings compared with data from other countries will be useful in showing the current situation of ILD in our country to discuss this problem and making plans for a solution.

3.
Hum Exp Toxicol ; 40(11): 1817-1824, 2021 Nov.
Article in English | MEDLINE | ID: mdl-33998299

ABSTRACT

INTRODUCTION: Malignant pleural mesothelioma (MPM) is a malignant tumor that is associated mostly with asbestos exposure. The present study was to evaluates the diagnostic value of neopterin, periostin, YKL-40, Tenascin-C (TNC), and Indolamine 2,3-dioxygenase (IDO) as noninvasive markers of malign pleural mesothelioma. METHODS: Included in the study were 30 patients diagnosed with malign pleural mesothelioma, and 25 people as a control group. Biomarker levels were determined using an enzyme immunoassay . A Mann-Whitney U test and Spearman correlation methods were used for the statistical analysis. RESULTS: All evaluated biomarkers were found to be significantly higher in the MPM group than in the control group (p < 0.05). There was no effect of such variables as gender, age or MPMsubtype on the parameters (p > 0.05) in the patient group. All biomarkers were positively correlated with each other (p < 0.001). CONCLUSIONS: The current non-invasive biomarkers that can be used in the diagnosis of MPM yielded significant results and can make important contributions to the early diagnosis of MPM.


Subject(s)
Asbestos/toxicity , Cell Adhesion Molecules/blood , Chitinase-3-Like Protein 1/blood , Indoleamine-Pyrrole 2,3,-Dioxygenase/blood , Mesothelioma, Malignant/chemically induced , Mesothelioma, Malignant/diagnosis , Neopterin/blood , Tenascin/blood , Adult , Biomarkers, Tumor/blood , Cross-Sectional Studies , Female , Humans , Male , Mesothelioma, Malignant/blood , Mesothelioma, Malignant/physiopathology , Middle Aged , Pleural Neoplasms/chemically induced , Pleural Neoplasms/diagnosis , Pleural Neoplasms/physiopathology , Prospective Studies
4.
Lung ; 194(3): 409-17, 2016 06.
Article in English | MEDLINE | ID: mdl-27032653

ABSTRACT

INTRODUCTION: The purpose of this study was to investigate the potential value of certain biomarkers in predicting the presence of malignant pleural mesothelioma (MPM) in individuals environmentally exposed to asbestos. METHODS: This prospective study investigated three groups; a control group composed of 41 healthy subjects, an asbestos exposure group consisting of 48 individuals, and a MPM group consisting of 42 patients. Serum levels of soluble mesothelin-related peptide (SMRP), thioredoxin-1 (TRX), epidermal growth factor receptor (EGFR), fibulin-3, syndecan-1 (SDC-1), and mesothelin were determined. RESULTS: Benign pleural plaques were present in 27 (58.3 %) of the individuals in the asbestos exposure group. The asbestos exposure group had significantly higher mean TRX, SMRP, and mesothelin levels compared to the control group (p = 0.023, p = 0.011, and p < 0.001, respectively). Compared to the asbestos exposure group, the MPM group had significantly higher mean EGFR, TRX, SMRP, and fibulin-3 levels (p = 0.041, p = 0.023, p = 0.002, and p = 0.001, respectively), and significantly lower mean SDC-1 levels (p = 0.002). Unlike the other biomarkers, SMRP and TRX levels increased in a graded fashion among the control, asbestos exposure, and MPM groups, respectively. Area under the curve values for SMRP and TRX were 0.86 and 0.72, respectively (95 % CI 0.79-0.92 and p < 0.001 for SMRP, and 95 % CI 0.62-0.81 and p < 0.001 for TRX). The cut-off value for SMRP was 0.62 nmol/l (sensitivity: 97.6 %, specificity: 68.9 %, positive predictive value (PPV): 56.2 %, and negative predictive value (NPV): 98.3 %) and for TRX was 156.67 ng/ml (sensitivity: 92.9 %, specificity: 77.6 %, PPV: 41.4 %, and NPV: 92.1 %). The combination of the biomarkers reached a sensitivity of 100 %, but had lower specificity (as high as 27.7 %). CONCLUSIONS: Serum biomarkers may be helpful for early diagnosis of MPM in asbestos-exposed cases. SMRP and TRX increased in a graded fashion from the controls to asbestos exposure and MPM groups. These two seem to be the most valuable biomarkers for the diagnosis of MPM, both individually and in combination.


Subject(s)
Asbestos/blood , Biomarkers, Tumor/blood , Environmental Exposure , Mesothelioma/blood , Pleural Neoplasms/blood , Aged , Area Under Curve , Case-Control Studies , ErbB Receptors/blood , Extracellular Matrix Proteins/blood , Female , GPI-Linked Proteins/blood , Humans , Male , Mesothelin , Mesothelioma/diagnosis , Middle Aged , Peptides/blood , Pleural Neoplasms/diagnosis , Predictive Value of Tests , Prospective Studies , Syndecan-1/blood , Thioredoxins/blood
6.
Asian Pac J Cancer Prev ; 16(4): 1403-7, 2015.
Article in English | MEDLINE | ID: mdl-25743806

ABSTRACT

BACKGROUND: New tumour biomarkers are being intensely investigated for malignant mesothelioma (MM). Fibulin-3 is produced in MM but its role remains uncertain. The aim of this study was to evaluate the validity of measuring serum fibulin-3 in the diagnosis and prognosis of MM. MATERIALS AND METHODS: This prospective study was performed on 43 patients and 40 healthy controls who were admitted to our hospital between January 2012 and January 2014. Data from MM patients, including demographic and clinical features, routine laboratory data, levels of serum fibulin-3, and treatment outcomes were defined as potential prognostic factors. The receiver operating characteristic (ROC) curve for fibulin-3 was used to detect the cut-off value with highest sensitivity and specificity. Univariate survival analysis was performed using the Kaplan-Meier method in patients with MM. Afterwards, the possible factors identified with univariate analyses were entered into the cox regression analysis. RESULTS: Our results revealed that patients with MM had significantly higher serum levels of fibulin-3 than controls. The results showed that the best cut-off point was 36.6 ng/ml with an AUC (area under the curve)=0.976, sensitivity=93.0% and specificity=90.0. In our study, the initial significant poor prognostic factors were advanced stage, high white blood cell count, high platelet count, high C-reactive protein (p<0.05 for each variable). Later, according to multivariate analysis the results showed only advanced stage as significant parameter (p=0.040). CONCLUSIONS: We determined that real use for serum fibulin-3 was not for prognosis but for diagnosis in MM. Also advanced stage was associated with poor MM prognosis.


Subject(s)
Biomarkers, Tumor/blood , Extracellular Matrix Proteins/blood , Lung Neoplasms/blood , Lung Neoplasms/diagnosis , Mesothelioma/blood , Mesothelioma/diagnosis , Case-Control Studies , Enzyme-Linked Immunosorbent Assay , Female , Follow-Up Studies , Humans , Lung Neoplasms/mortality , Male , Mesothelioma/mortality , Mesothelioma, Malignant , Middle Aged , Neoplasm Staging , Prognosis , Prospective Studies , ROC Curve , Survival Rate
7.
ScientificWorldJournal ; 2014: 902748, 2014.
Article in English | MEDLINE | ID: mdl-24592197

ABSTRACT

BACKGROUND AND OBJECTIVES: The aim of this study was to investigate inflammatory indicators and oxidative status in patients with asbestos exposure with and without mesothelioma and to compare results with data from healthy subjects. METHODS: Eighty people with exposure to environmental asbestos and without any disease, 46 mesothelioma patients, and a control group of 50 people without exposure to environmental asbestos were enrolled in this prospective study. Serum total oxidant level (TOL), total antioxidant capacity (TAC), and oxidative stress index (OSI), CRP, transferrin, ceruloplasmin, α-1 antitrypsin, ferritin, and copper levels were measured. RESULTS: Mesothelioma group exhibited higher TOL, OSI, α1-antitrypsin, ferritin and copper levels as compared to the other groups (P < 0.001, P = 0.007, P < 0.0001, P < 0.001, and P < 0.001, resp.). Transferrin was lower in the mesothelioma group than in the other two groups (P < 0.001). The asbestos group had higher TOL, TAC, α1-antitrypsin, and transferrin levels (P < 0.001, P < 0.001, P < 0.001, and P < 0.001, resp.), as well as lower OSI and ferritin levels as compared to the control group (P < 0.001 and P < 0.001). CONCLUSIONS: We believe that elevated acute phase reactants and oxidative stress markers (TOL and OSI) in the mesothelioma group can be used as predictive markers for the development of asbestos-related malignancy.


Subject(s)
Acute-Phase Proteins/analysis , Asbestos/toxicity , Biomarkers, Tumor/blood , Environmental Exposure/adverse effects , Lung Neoplasms/blood , Mesothelioma/blood , Oxidative Stress , Adult , Aged , Case-Control Studies , Copper/blood , Cross-Sectional Studies , Female , Humans , Lung Neoplasms/chemically induced , Lung Neoplasms/diagnosis , Male , Mesothelioma/chemically induced , Mesothelioma/diagnosis , Mesothelioma, Malignant , Middle Aged , Oxidants/blood
8.
Wien Klin Wochenschr ; 126(11-12): 347-54, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24664312

ABSTRACT

BACKGROUND: Pulmonary embolism (PE) is the third cardiovascular cause of hospital admission, following acute coronary syndrome and stroke. Despite high-tech diagnostic methods and new treatment modalities, PEs continue to have a high mortality rate within the first 3 months. This study was designed to assess the additional prognostic value of a complete blood cell count, renal function markers, C-reactive protein, and simplified pulmonary embolism severity index (sPESI) scoring system in PE 100-day mortality. MATERIALS AND METHODS: The study retrospectively enrolled 208 consecutive patients who were hospitalized with the diagnosis of an acute PE. The patients' demographic characteristics and clinical and laboratory parameters were recorded from the hospital electronic database and patient's case notes. The primary end point of the study was an adverse 100-day outcome, defined as death from any cause. RESULTS: The all-cause mortality in the first 100 days was 14.42 %. The mean age was 57.87 ± 18.17 (range: 16-93) years. We included 79 (38 %) male and 129 (62 %) female individuals. Red cell distribution width (RDW) and sPESI were found to be statistically significant predictors of PE mortality by multivariate regression analysis. On multivariate regression analysis, RDW was associated with a 4.08-fold (95 % confidence interval: 1.229-13.335, P = 0.021) increase in PE mortality. CONCLUSION: The results of this study demonstrated that RDW and sPESI may be a useful guide in predicting 100-day mortality. The elevated RDW may alert physicians to possible poor prognosis.


Subject(s)
Blood Cell Count/statistics & numerical data , C-Reactive Protein/metabolism , Oxygen/blood , Pulmonary Embolism/blood , Pulmonary Embolism/mortality , Severity of Illness Index , Adolescent , Adult , Aged , Aged, 80 and over , Biomarkers/blood , Female , Humans , Male , Middle Aged , Prevalence , Prognosis , Pulmonary Embolism/diagnosis , Reproducibility of Results , Risk Factors , Sensitivity and Specificity , Survival Rate , Turkey/epidemiology , Young Adult
9.
J BUON ; 19(1): 164-70, 2014.
Article in English | MEDLINE | ID: mdl-24659659

ABSTRACT

PURPOSE: To compare treatment modalities and investigate potential prognostic factors for survival in patients with malignant pleural mesothelioma (MPM). METHODS: The present study has investigated the data of 150 patients with MPM who were examined and treated in our center from 2005 to 2012. RESULTS: The study included 87 male (58% and 63 female (42) patients. Surgical resection (pleurectomy/decortications (P/D), and extrapleural pneumonectomy (EPP)) was performed in 32 (36.7%) patients; 87 patients (58%) received chemotherapy alone and 16 (10.7%) had surgery, chemotherapy and radiotherapy (trimodal treatment). The median progression free and overall survival (PFS and OS) for all patients were 10.6 and 14.8 months, respectively. No statistically significant difference was observed between the patients who received pemetrexed/cisplatin (N=54) and gemcitabine/cisplatin (N=28) in terms of PFS and OS (p=0.145, p=0.244, respectively). Also, no statistically significant difference was registered between operated and non operated patients (PFS and OS, p=0.416, p=0.095, respectively). There was no difference in both PFS and OS rates between patients who had P/D or EPP (p=0.87, p=0.652, respectively). Log rank analysis: Eastern Cooperative Oncology Group performance status (ECOG PS) (p=0.018), histology (p<0.001), stage (p<0.001) and leukocytosis (p=0.005) were found to be significant prognostic factors of OS. At multivariate analysis, ECOG PS (p=0.016) and stage (p<0.001) were independent prognostic factors for OS. CONCLUSION: Median OS was approximately 1 year. ECOG PS, histological type, stage and presence of leukocytosis were prognostic factors that affected both PFS and OS. EPP or P/D surgical options did not provide difference in terms of survival. Survival rates in patients who received a combination of platinum analogues with pemetrexed or gemcitabine as front-line chemotherapy were similar.


Subject(s)
Disease-Free Survival , Lung Neoplasms/drug therapy , Lung Neoplasms/surgery , Mesothelioma/drug therapy , Mesothelioma/surgery , Pleural Neoplasms/drug therapy , Pleural Neoplasms/surgery , Adult , Aged , Aged, 80 and over , Cisplatin/administration & dosage , Combined Modality Therapy , Deoxycytidine/administration & dosage , Deoxycytidine/analogs & derivatives , Drug-Related Side Effects and Adverse Reactions , Female , Humans , Lung Neoplasms/pathology , Lung Neoplasms/radiotherapy , Male , Mesothelioma/pathology , Mesothelioma/radiotherapy , Mesothelioma, Malignant , Middle Aged , Pleural Neoplasms/pathology , Pleural Neoplasms/radiotherapy , Thoracic Surgical Procedures , Treatment Outcome , Turkey , Gemcitabine
10.
Respir Med Case Rep ; 13: 32-6, 2014.
Article in English | MEDLINE | ID: mdl-26029556

ABSTRACT

Granulomatosis with polyangiitis (GPA) is a rare form of vasculitis. Multidisciplinary therapeutic approach and early diagnosis assume vital importance in management of patients with diffuse alveolar haemorrhage caused by GPA, which is a rare complication. The purpose of this study was to present the diagnostic and therapeutic challenges experienced by clinicians in management of two severe cases of GPA with insidious extrapulmonary manifestations which rapidly progressed into acute kidney injury, alveolar haemorrhage and acute respiratory failure.

11.
Tuberk Toraks ; 60(3): 207-17, 2012.
Article in Turkish | MEDLINE | ID: mdl-23030745

ABSTRACT

INTRODUCTION: This study planned to investigate the maximum standard uptake values (SUV max) at fluorodeoxyglucose-positron emission tomography/computed tomography (FDG-PET/CT) whether associated with survival or not and the effect of demographic, clinical and laboratory data on survival in non-small cell lung cancer (NSCLC) patients. MATERIALS AND METHODS: This study was created by examining retrospectively the records of 101 patients with NSCLC that received a definitive diagnosis and FDG-PET/CT used for staging in our center between May 2006-March 2011. Especially FDG-PET/CT, SUV max and the other clinical, histopathologic, laboratory and treatment parameters that effects prognosis were recorded and statistical analysis was performed. RESULTS: Eighty eight (87.1%) of the patients were men and 13 (12.9%) were women. The average survival period was 10.6 ± 8.5 (1-49 months) months. The demographic, clinical, laboratory and radiological parameters were divided into two groups with the median value of SUV max (12.0). There was not a significant difference in survival between the two groups (p= 0.807). The study showed that advanced stage, presence of metastasis, high lactate dehydrogenase (LDH) levels, high white blood cell levels, inoperability, low albumin levels and low performance effect negative on survival. CONCLUSION: It was considered that SUV max does not play an important role in the survival period of NSCLC patients. Knowledge of performance condition, serum LDH, leukocyte and albumin values may provide a better prognostic evaluation.


Subject(s)
Carcinoma, Non-Small-Cell Lung/mortality , Fluorodeoxyglucose F18 , Lung Neoplasms/mortality , Multimodal Imaging , Positron-Emission Tomography , Tomography, X-Ray Computed , Adult , Aged , Aged, 80 and over , Carcinoma, Non-Small-Cell Lung/diagnostic imaging , Carcinoma, Non-Small-Cell Lung/metabolism , Carcinoma, Non-Small-Cell Lung/pathology , Female , Fluorodeoxyglucose F18/metabolism , Humans , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/metabolism , Lung Neoplasms/pathology , Male , Middle Aged , Neoplasm Metastasis , Neoplasm Staging , Prognosis , Retrospective Studies
12.
Tuberk Toraks ; 59(3): 285-90, 2011.
Article in Turkish | MEDLINE | ID: mdl-22087527

ABSTRACT

Chronic obstructive pulmonary disease (COPD) is a disease which is characterized with progressive airflow obstruction and abnormal inflammatory response caused by noxious gases and particles. Recently oral phosphodiesterase-4 (PDE-4) inhibitors which block activation of inflammatory cells, are experimented as a new approach. Last studies showed that these drugs improve symptoms, pulmonary functions and quality of life, reduce the numbers of acute attacks, suppress bronchial inflammation in COPD. However these drugs lead to adverse reactions such as vomiting, diarrhea and headache. In this review we discussed roflumilast (Daxas) which was accepted by Food and Drug Administration (FDA), included in treatment of sever COPD in "The Global Initiative for Chronic Obstructive Lung Disease (GOLD)" guideline.


Subject(s)
Aminopyridines/therapeutic use , Benzamides/therapeutic use , Inflammation/drug therapy , Phosphodiesterase 4 Inhibitors/therapeutic use , Pulmonary Disease, Chronic Obstructive/drug therapy , Administration, Oral , Aminopyridines/adverse effects , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Benzamides/adverse effects , Cyclopropanes/adverse effects , Cyclopropanes/therapeutic use , Humans , Inflammation/etiology , Phosphodiesterase 4 Inhibitors/adverse effects , Practice Guidelines as Topic
13.
Lung India ; 28(4): 267-71, 2011 Oct.
Article in English | MEDLINE | ID: mdl-22084540

ABSTRACT

PURPOSE: Our objective is to scrutinize clinical, laboratory, radiological characteristics, treatment regimens, and treatment outcomes of malignant mesothelioma (MM) cases in our hospital. MATERIALS AND METHODS: We investigated, retrospectively, the clinical characteristics and treatment outcomes of all 132 MM patients at Dicle University Hospital between January 2006 and April 2010. RESULTS: A total of 82 (62.1%) patients were male, and 50 (37.9%) female. Median age was 56.0 years. Mean survival time was 9.6±6.9 months. Mean survival time of patients who had received best supportive care was 7.5 months, chemotherapy 10.4 months, and multimodality treatment regimen 12.6 months. Patients in the multimodality treatment group survived longer than did those in the other two groups (P=0.042). A total of 76 patients received chemotherapy, of whom 17 (22.3%) were administered Cisplatin/Carboplatin and Gemcitabine, 58 (76.4%) Cisplatin/Carboplatin and Pemetrexed, and one (1.3%) Cisplatin + Docetaxel. Complete and partial response to treatment in patients receiving Cisplatin/Carboplatin and Gemcitabine was found 47.1% and Cisplatin/Carboplatin and Pemetrexed was found 50.0% (P>0.05). CONCLUSIONS: MM related to asbestos exposure is seen frequently in Turkey. Patients present with the typical clinical features of dyspnea, weight loss, and chest pain. Survival analysis shows that patients receiving multimodality treatment may be better.

14.
Lung India ; 28(3): 180-3, 2011 Jul.
Article in English | MEDLINE | ID: mdl-21886951

ABSTRACT

BACKGROUND: There are various anatomic variations in tracheobronchial system (tracheal bronchus, ectopic bronchus, and accessory bronchus). We aimed to investigate the bronchoscopic findings of the patients with tracheobronchial variations (TBVs) during bronchoscopy and to describe their clinical characteristics. MATERIALS AND METHODS: A total of 3322 records of bronchoscopic examinations in university hospital and 1560 in chest disease hospital total 4882 were retrospectively analyzed and 198 (134 male, 64 female) patients were diagnosed as TBV. RESULTS: Mean age of patients was 48.5 ± 17.8 (range, 15-78) years. Most of the tracheobronchial variations (n = 68, 33.1%) were localized at the right upper lobe bronchus. The most common type of TBVs at this region was right upper lobe with two segments. Symptoms were found in 21 (10.2%) patients with TBVs (7 accessory cardiac bronchus, 5 tracheal bronchus, 5 accessory segmental bronchus in left main bronchus and 4 accessory segmental bronchus in right main bronchus). Their symptoms cough, hemoptysis and recurrent pneumonia with unknown etiologies were thought as related to TBVs. No other potential causes leading these symptoms were found in these patients. CONCLUSION: According to our best of knowledge our study population is one of the largest series of bronchoscopy for investigate of TBVs. Although TBVs were usually reported as asymptomatic, nearly 10% of our patients with TBVs had symptoms such as recurrent pneumonia, cough and hemoptysis. TBVs should be taken into consideration in symptomatic patients before fiber-optic bronchoscopic examination.

15.
Yonsei Med J ; 50(5): 721-4, 2009 Oct 31.
Article in English | MEDLINE | ID: mdl-19881980

ABSTRACT

Tracheobronchopathia osteochondroplastica (TO) is a rare disorder of unknown cause characterized by the presence of multiple submucosal osseous and/or cartilaginous nodules that protrude into the lumen of the trachea and large bronchi. A simultaneous diagnosis of TO and amyloidosis is rarely reported. In this report, a case initially suspected to be asthma bronchiole that could not be treated, was radiologically diagnosed as TO, and also secondary amyloidosis is presented. A 53 years, man patient reported a 3 years history of dyspnea. Pulmonary function tests (PFTs) showed an obstructive pattern. Chest X-rays revealed right middle lobe atelectasis. FOB and CT detected nodular lesions in the trachea and in the anterior and lateral walls of the main bronchi. AA amyloidosis was confirmed by endobronchial biopsy. In the abdominal fat pad biopsy, amyloidosis was not detected. Asthma bronchiole was excluded by PFTs. This case illustrates that it is possible for TO and amyloidosis to masquerade as asthma. TO and amyloidosis should be suspected in patients of older ages with asthma and especially with poorly treated asthmatic patients. Although nodular lesions in the anterior and lateral tracheobronchial walls are typical for TO, a biopsy should be obtained to exclude amyloidosis.


Subject(s)
Amyloidosis/diagnosis , Bronchial Diseases/diagnosis , Tracheal Diseases/diagnosis , Amyloidosis/complications , Amyloidosis/pathology , Asthma/diagnosis , Bronchial Diseases/complications , Bronchial Diseases/diagnostic imaging , Diagnosis, Differential , Humans , Male , Middle Aged , Radiography , Tracheal Diseases/complications , Tracheal Diseases/diagnostic imaging
16.
Am J Hum Genet ; 79(4): 650-6, 2006 Oct.
Article in English | MEDLINE | ID: mdl-16960801

ABSTRACT

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, by a candidate-gene approach, the gene responsible for the disease as SLC34A2 (the type IIb sodium-phosphate cotransporter gene), which is involved in phosphate homeostasis in several organs. We identified six homozygous exonic mutations in the seven unrelated patients with PAM we studied. Three of the mutations were frameshifts, one was a chain termination, one was an amino acid substitution, and one was a deletion spanning the minimal promoter and the first exon. Absence of functional protein product of the gene is compatible with calcium phosphate deposition in alveolar airspaces. We show that impaired activity of the phosphate transporter is presumably responsible for the microliths and that PAM is a recessive monogenic disease with full penetrance. Testicular microlithiasis (TM) is a disease that is more common than PAM. It is often associated with cancer and infertility. Since the gene we identified is also expressed in testis, we searched for mutations in subjects with TM. In 2 of the 15 subjects with TM we studied, we identified two rare variants, one synonymous and the other noncoding, that are possibly associated with the condition.


Subject(s)
Lithiasis/genetics , Lung Diseases/genetics , Mutation , Sodium-Phosphate Cotransporter Proteins, Type IIb/genetics , Testicular Diseases/genetics , Chromosome Mapping , Chromosomes, Human, Pair 4 , DNA Mutational Analysis , Family , Female , Humans , Lung Diseases/complications , Male , Microsatellite Repeats , Pedigree , Testicular Diseases/complications
17.
J Laryngol Otol ; 120(2): 129-32, 2006 Feb.
Article in English | MEDLINE | ID: mdl-16359138

ABSTRACT

OBJECTIVE: To investigate the efficacy of medical antituberculous treatment in patients with tuberculous cervical lymphadenitis (TCL). METHODS: In the period 1996-2002, 73 TCL patients were reviewed and the results of clinical and laboratory testing were documented. The efficacy of a four-drug chemotherapy regimen was investigated. RESULTS: Purified protein derivatives (PPD) skin test results were positive in 58 (79 per cent) patients. Chest X-rays revealed changes consistent with tuberculosis in nine (12.3 per cent) patients. The mean duration of medical treatment was 10.04 months. In follow-up evaluation, 14 (20 per cent) patients were considered suspicious for resistant TCL and total excision of all nodes was performed. Histopathology confirmed TB in only 10 of these cases. CONCLUSION: The high incidence of residual disease in our study indicates that medical treatment (at least nine months of four combined antituberculous drugs) did not seem to be effective. If lymphadenopathy persists, total surgical excision of lymph nodes should be the treatment of choice.


Subject(s)
Antitubercular Agents/therapeutic use , Tuberculosis, Lymph Node/drug therapy , Adolescent , Adult , Aged , Biopsy, Fine-Needle/methods , Drug Resistance, Bacterial , Female , Follow-Up Studies , Humans , Lymph Nodes/surgery , Male , Middle Aged , Skin Tests/methods , Time Factors , Treatment Outcome , Tuberculin/analysis , Tuberculosis, Lymph Node/pathology
18.
Tuberk Toraks ; 54(4): 378-81, 2006.
Article in English | MEDLINE | ID: mdl-17203426

ABSTRACT

Sickle cell anemia is a disease caused by production of abnormal hemoglobin. Infection, acute splenic sequestration crisis, aplastic crises, acute chest syndrome, stroke, cholelithiasis, renal disease and pain are the major complications. Unilateral or bilateral diaphragm paralysis maybe seen following phrenic nerve injury and with a variety of motor-neuron diseases, myelopathies, neuropathies, and myopathies. Prominent right hemi-diaphragma elevation was observed on chest radiograph of a 14 years' old female patient with sickle cell disease. Her medical history yielded neither trauma nor intra-thoracic surgery. She didn't have either motor deficit or sensation disorder on any region of her body. Thorax CT yielded no lesion except the significantly elevated right diaphragm. Her cranial CT showed no lesion, too. Diagnosis of right hemidiaphragm paralysis was confirmed by positive Hitzenberg Sniff test on fluoroscopy. Although several pathophysiologic mechanisms are known to be involved and lead to central neurologic complications in sickle cell disease, involvement of peripheric nerves have not been reported. Here we present a 14 years' old female patient with sickle cell anemia and unilateral diaphragm paralysis, co-existence of which have not been reported so far.


Subject(s)
Anemia, Sickle Cell/diagnosis , Diaphragm/pathology , Respiratory Paralysis/diagnosis , Adolescent , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/diagnostic imaging , Diagnosis, Differential , Diaphragm/diagnostic imaging , Female , Humans , Respiratory Paralysis/complications , Respiratory Paralysis/diagnostic imaging , Respiratory Paralysis/pathology , Tomography, X-Ray Computed
19.
Joint Bone Spine ; 71(4): 312-6, 2004 Jul.
Article in English | MEDLINE | ID: mdl-15288857

ABSTRACT

OBJECTIVES: To evaluate the result of rehabilitation on motor and functional improvement in spinal tuberculosis. METHOD: Prospective case study. Data were collected from 47 patients with spinal tuberculosis medically and/or surgically treated, and rehabilitated over 6 months of period, after spinal decompression and fusion. The main outcome measures were motor development of the patients who were evaluated at the beginning, in the 1st week, in the 3rd month, and in the 6th month. Functional development of the patients was evaluated at the beginning and in the 6th month. Functional assessment was made according to Modified Barthel Index (MBI), and motor examination was made according to American Spinal Injury Association (ASIA). RESULTS: The study population consisted of 47 patients (22 males and 25 females) mean aged 37.9 +/- 18.3 years (range 5-76 years). The most common site of spinal tuberculosis was the thoracic region. Localized back pain, paraparesis, sensory dysfunction and fever were typical clinical manifestations. Surgical management was performed as anterior or posterior drainage of abscess and/or stabilization of the spine. The rehabilitation program was performed in all patients during the preoperative, early postoperative and late postoperative 6 month periods. Muscle-strengthening exercises on necessary localization such as pectoral, abdominal, lower extremities; truncal and sacrospinal extensors were started for the rehabilitation. The motor score for the lower limbs and the MBI scores for activities of daily living (ADL) and mobility improved significantly (P < 0.001). The self-care and mobility categories of the MBI on admission; were 14.8% severely dependent and 10.6% independent. However, at the end of the rehabilitation program, 4.2% were severely dependent and 70.2% independent. IN CONCLUSION: Early diagnosis and appropriate medical and/or surgical treatment together with a rehabilitation program will improve the life quality of patients with spinal tuberculosis.


Subject(s)
Activities of Daily Living , Motor Activity , Severity of Illness Index , Tuberculosis, Spinal/therapy , Adolescent , Adult , Aged , Antitubercular Agents/therapeutic use , Child , Child, Preschool , Clinical Trials as Topic , Combined Modality Therapy , Decompression, Surgical , Exercise Therapy , Female , Humans , Male , Middle Aged , Prospective Studies , Spinal Fusion , Thoracic Vertebrae/surgery , Treatment Outcome , Tuberculosis, Spinal/physiopathology
20.
Arch Environ Health ; 59(12): 658-62, 2004 Dec.
Article in English | MEDLINE | ID: mdl-16789474

ABSTRACT

In this study, the authors examined the concentrations and mineralogical analyses of asbestos, and investigated mesothelioma risk in southeastern Anatolia, Turkey. They used a gravimetric dust sampler to collect samples from 2 villages and 2 asbestos mines (1 active). Samples were then evaluated by an X-ray diffractometer and an electron microscope. The authors found high concentrations of asbestos in an active mine (4.9 fibers[f]/cm3) and at a house that was plastered with asbestos (1.24 f/cm3) and had a very active population. They found a low concentration (0.0042 f/cm3) in indoor measurements taken in Armutova village, and an even lower concentration (0.000081 f/cm3) in the inactive mine environment. Outdoor measurements included a low concentration of 0.007 f/cm3 in the village environment, and a high concentration of 1.17 f/cm3 on the mine road during the passing of a sheep herd. The people in the region are continuously exposed to asbestos during normal activities. This cumulative exposure to asbestos carries sufficient risks for mesothelioma development.


Subject(s)
Asbestos/toxicity , Dust , Environmental Exposure/analysis , Mesothelioma/epidemiology , Occupational Exposure/analysis , Asbestos/chemistry , Data Collection , Environmental Exposure/adverse effects , Epidemiologic Studies , Housing , Humans , Mesothelioma/etiology , Mining , Occupational Exposure/adverse effects , Risk Assessment , Risk Factors , Turkey/epidemiology
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