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This case report describes an unreported case of  Purtscher-like retinopathy in a patient with pulmonary adenocarcinoma. A 39-year-old man was hospitalized for exploration of a hemoptysis and bilateral blurry vision. Fundoscopic examination showed multiple areas of retinal whitening in the peripapillary area. A chest computed tomography scan then showed a ground glass opacity in the right upper lobe associated to a hilar lymphadenopathy. A thoracotomy and lung biopsy were performed concluding with the diagnosis of lung adenocarcinoma. The patient was treated with high-dose corticosteroids and received Taxol-Carboplatin chemotherapy with good visual outcomes. The article discusses furthermore the importance of including pulmonary adenocarcinoma to the list of systemic conditions for Purtscher-like retinopathy.

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Interstitial lung disease (ILD) and low-grade Mucosa-associated B-cell lymphoma (MALT lymphoma) are two different disorders of the respiratory system. In some cases, pulmonary MALT lymphoma is seen presenting with interstitial lung disease. We report a case of 42-year-old man presenting with a pulmonary MALT lymphoma associated with interstitial lung disease.

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INTRODUCTION: obstructive sleep apnea (OSA) is a common chronic pulmonary disease, characterized by repetitive collapse of the upper respiratory airways, leading to oxygen desaturation. This condition is recognized to be associated with cardiovascular disease. Several studies have shown the effects of OSA on both geometry and cardiac function, with conflicting results. We aimed to investigate the relationship between echocardiographic abnormalities and the severity of OSA. METHODS: this is a cross-sectional single center study including patients, without any cardiovascular or pulmonary comorbidities, with polygraphy proven OSA. All participants underwent a detailed transthoracic echocardiography (TTE). RESULTS: a total of 93 patients were included in the study, with 62.2% (n=56) females. According to the apnea hypopnea index (AHI), patients were divided into two groups: mild to moderate OSA (5≤ AHI< 30/H) and severe OSA (AHI≥ 30/H). There were no differences in baseline characteristics between the two groups. The assessment of echocardiographic parameters demonstrated that severe OSA have a higher left ventricular end-systolic (LVES) (47.6±7.2 VS 46.2±4.7), left ventricular end-diastolic (LVED) (31.3±6.2 VS 28.9±4.5) diameters and interventricular septum (IVS) thickness (12.7±2.4 VS11.7±2.5) diameters rather than mild to moderate OSA without a significant difference between the two groups. Furthermore, severe OSA patients had lower mean value of left ventricular ejection fraction (LVEF) and fractional shortening (FS) equal to 62.1±9.7 and 32.5±6.3 respectively. The difference between the two groups was not statistically significant. However, a significant association was shown between severity of OSA and left ventricular (LV) diastolic dysfunction, right ventricular internal diameter (RVID) and systolic pulmonary artery pressure (sPAP), with p=0.05, p=0.05 and p= 0.03 respectively. The RVID was also independently associated to the severity of the OSA (aOR 1.33, 95%CI: 0.99-1.79; p=0.05). CONCLUSION: using bidimensional echocardiography showed a relationship between severe OSA and right ventricular parameters (diastolic dysfunction and RVID) and sPAP.

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Pulmonary artery hypoplasia is a rare malformation of childhood that is usually associated with cardiac abnormalities. In the absence of these cardiac malformations it is discovered later when respiratory signs appear. It was a 56-year-old patient who had been referred for dyspnea with cough. The physical examination was normal. Chest X-ray, thoracic computed tomography (CT) scan and echocardiography suggested the diagnosis of hypoplasia of the left pulmonary artery without associated cardiac malformations. The early diagnosis of hypoplasia of the pulmonary artery allows the close follow-up of these patient and the planning of an adequate management.

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Smoking is considered as the major causal factor of chronic obstructive pulmonary disease (COPD). Nevertheless, a minority of chronic heavy cigarette smokers develops COPD. This suggests important contribution of other factors such as genetic predisposing. Our objective was to investigate combined role of EPHX1, GSTP1, M1 and T1 gene polymorphisms in COPD risk, its phenotypes and lung function impairment. Prevalence of EPHX1, GSTP1, M1 and T1 gene polymorphisms were assessed in 234 COPD patients and 182 healthy controls from Tunisia. Genotypes of EPHX1 (Tyr113His; His139Arg) and GSTP1 (Ile105Val; Ala114Val) polymorphisms were performed by PCR-RFLP, while the deletion in GSTM1 and GSTT1 genes was determined using multiplex PCR. Analysis of combinations showed a significant association of 113His/His EPHX1/null-GSTM1 (OR=4.07) and null-GSTM1/105Val/Val GSTP1 (OR =3.56) genotypes with increased risk of COPD (respectively P=0.0094 and P=0.0153). The null-GSTM1/ null-GSTT1, 105Val/Val GSTP1/null GSTT1, 113His/His EPHX1/null-GSTM1 and null-GSTM1/105Val/Val GSTP1 genotypes were related to emphysema (respectively P=0.01; P=0.009; P=0.008 and P=0.001). Combination of 113His/His EPHX1/null-GSTM1 genotypes showed a significant association with the decrease of Δ FEV1 in patients (P =0.028).In conclusion, our results suggest combined EPHX1, GSTP1, GSTM1 and GSTT1 genetic polymorphisms may play a significant role in the development of COPD, emphysema and decline of the lung function.

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Chronic obstructive pulmonary disease (COPD) is characterized by systemic and local chronic inflammation and oxidative stress. The sources of the increased oxidative stress in COPD patients derive from the increased burden of inhaled oxidants such as cigarette smoke and other forms of particulate or gaseous air pollution and from the increase in reactive oxygen species (ROS) generated by several inflammatory, immune, and structural airways cells. There is increasing evidence that genetic factors may also contribute to the pathogenesis if COPD, particularly antioxidant genes, which may confer a susceptibility to environmental insults such as cigarette smoke and thereafter development of COPD. Consequently, heme oxygenase-1 (HO-1), superoxide dismutase (SOD), catalase (CAT), glutathione S-transferase (GST), microsomal epoxide hydrolase (EPHX1), and cytochrome P450 (CYP) genetic polymorphisms may have an important role in COPD pathogenesis. In this review the authors summarized the most recent findings dealing with these antioxidant genes contributing to the free radical neutralization and xenobiotic enzymes playing a role in different phases of cell detoxification reactions related to the redox status imbalance in COPD, with an emphasis on their possible roles in disease progression.

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This study was undertaken to ascertain if a relationship existed between oxidative status and polymorphisms of microsomal epoxide hydrolase X1 (EPHX1), glutathione S-transferase P1 (GSTP1), GSTM1, and GSTT1 in chronic obstructive pulmonary disease (COPD). Erythrocyte glutathione peroxidase (GSH-px), glutathione reductase (GR), superoxide dismutase (SOD), catalase (CAT), and plasma GST activities and total antioxidant status (TAS) as antioxidative stress markers were determined and compared either with individual and combined genotypes of EPHX1 exon 3, GSTP1 exon 5, GSTM1, and GSTT1 polymorphisms in COPD patients and healthy controls from the central area of Tunisia. Statistical data processing revealed significantly lower GSH-px, GR, SOD, CAT, GST, and TAS values in COPD patients in comparison to the control group (P < .001). As for genotypes, there was a no significant association in each of the 6 parameters and individual genotypes (P > .05). A significant correlation between the studied parameters and combined null GSTM1/null GSTT1 (GSH-px: P < .001, GR: P = .026, CAT: P = .018, GST: P = .022, TAS: P = .046), His113His EPHX1/null GSTM1 (GSH-px: P = .001, GST: P = .0012, TAS: P = .013), His113His EPHX1/Val105Val GSTP1 (GSH-px: P = .048, CAT: P = .026, GST: P = .031), and null GSTM1/Val105Val GSTP1 (GSH-px: P = .011, GR: P = .0028, GST: P = .0054, TAS: P = .032) was found in patients. In conclusion, combined genetic polymorphisms of GSTM1, GSTT1, GSTP1, and EPHX1 may have favorable effects on redox balance in COPD patients.

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It is well known that cigarette smoking is the major risk factor for chronic obstructive pulmonary disease (COPD). However, only 10%-20% of chronic heavy cigarette smokers develop symptomatic disease, which suggests the presence of genetic susceptibility. Microsomal epoxide hydrolase (EPHX1) is an enzyme involved in the protective mechanism against oxidative stress. It has been reported that gene polymorphisms of this enzyme may be associated with variations in EPHX1 activity. In this study, we aimed at investigating the relationship between EPHX1 polymorphisms and susceptibility to COPD in the Tunisian population. EPHX1 exon 3 (rs1051740, Tyr113His) and exon 4 (rs2234922, His139Arg) polymorphisms were genotyped by polymerase chain reaction followed by restriction fragment length polymorphism analysis. These techniques were used to examine a total of 416 Tunisian individuals, including 182 blood donors and a group of 234 COPD patients. All subjects were not related. An increased risk for COPD was observed in subjects with EPHX1 His113-His113 genotype (odds ratio = 2.168; confidence interval 1.098-4.283; p = 0.02386). However, multivariate logistic regression analysis showed no significant relationship between the mutant genotype and the disease after adjustment for sex, age, body mass index, smoking status, and pack-year smoking (odds ratio = 1.524; confidence interval, 0.991-6.058; p = 0.06137). Regarding the two subtypes of COPD, our investigations demonstrated that there is no significant correlation between exon 3 polymorphism and the chronic bronchitis subgroup (p = 0.09034). The relation between exon 3 polymorphism and emphysema was significant in the univariate analysis (p = 0.02257), but no association was found after controlling for classic risk factors (p = 0.06273). In conclusion, our results showed that there is a weak relation between 113His genotype and COPD, and no apparent relation between 139Arg and COPD in the studied Tunisian population.

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GSTM1 and GSTT1 polymorphisms have been proposed in relationship with chronic obstructive pulmonary disease (COPD). We investigated the association between these polymorphisms and COPD (as well as its subtypes emphysema and chronic bronchitis) in 234 COPD patients and 182 healthy controls in the Tunisian population. Genotyping was performed using multiplex PCR. GSTM1-null genotype frequency was significantly higher in COPD patients than in controls (P = 0.02); however, multivariate analysis of cofounding variables showed no independent association with this genotype (P = 0.073). In contrast, the association of the GSTM1-null genotype with emphysema was significant, even after adjustment for risk factors (P = 0.011). There were no significant differences in GSTT1 genotypes between patients and controls. The GSTM1 null allele is likely not an independent risk factor for COPD but is related to emphysema, whereas the GSTT1 gene is not associated with the disease.

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Alpha1-antitrypsin (AAT) is a highly polymorphic protein with more than 120 variants that are classified as normal (normal protein secretion), deficient (reduced circulating AAT level caused by defective secretion) or null (no protein secretion). Alpha1-antitrypsin deficiency, one of the most common genetic disorders, predisposes adults to pulmonary emphysema and, to a lesser extent, chronic liver disease and cirrhosis. In this report, we provide additional sequence data for alpha1-antitrypsin based on the characterization of a novel variant detected in a 53-year-old heterozygous patient with chronic obstructive pulmonary disease. The mutation occurred on a PI*M2 base allele and was characterized by a T → C transition at nt 97 in exon II that led to the replacement of phenylalanine by leucine (F33L). Since the mutation was found in the heterozygous state with the expression of a normally secreted variant (PI*M1) it was not possible to assess the pattern of F33L secretion. However, computational analyses based on evolutionary, structural and functional information indicated a reduction of 23 Š(3) in the side chain volume and the creation of a cavity in the protein hydrophobic core that likely disturbed the tridimensional structure and folding of AAT. The accuracy of the in silico prediction was confirmed by testing known mutations.

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Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We investigated PiM1 (Ala213Val), PiM2 (Arg101His), PiM3 (Glu376Asp), PiS (Glu264Val) and PiZ (Glu342Lys) SERPINA1 alleles in 100 COPD patients and 200 healthy controls. No significant differences were observed in allele frequencies between COPD patients and controls, neither did haplotype analysis show significant differences between the two groups. A cross-sectional study revealed no significant relationship between common SERPINA1 polymorphisms (PiM1, PiM2, PiM3) and the emphysematous type of COPD. In addition, FEV(1) annual decline, determined during a two-year follow up period, revealed no difference among carriers of the tested polymorphisms.

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Alpha1-antitrypsin (AAT) is a highly polymorphic protein with more than 120 variants that are classified as normal (normal protein secretion), deficient (reduced circulating AAT level caused by defective secretion) or null (no protein secretion). Alpha1-antitrypsin deficiency, one of the most common genetic disorders, predisposes adults to pulmonary emphysema and, to a lesser extent, chronic liver disease and cirrhosis. In this report, we provide additional sequence data for alpha1-antitrypsin based on the characterization of a novel variant detected in a 53-year-old heterozygous patient with chronic obstructive pulmonary disease. The mutation occurred on a PI*M2 base allele and was characterized by a T → C transition at nt 97 in exon II that led to the replacement of phenylalanine by leucine (F33L). Since the mutation was found in the heterozygous state with the expression of a normally secreted variant (PI*M1) it was not possible to assess the pattern of F33L secretion. However, computational analyses based on evolutionary, structural and functional information indicated a reduction of 23 ų in the side chain volume and the creation of a cavity in the protein hydrophobic core that likely disturbed the tridimensional structure and folding of AAT. The accuracy of the in silico prediction was confirmed by testing known mutations.

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Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We investigated PiM1 (Ala213Val), PiM2 (Arg101His), PiM3 (Glu376Asp), PiS (Glu264Val) and PiZ (Glu342Lys) SERPINA1 alleles in 100 COPD patients and 200 healthy controls. No significant differences were observed in allele frequencies between COPD patients and controls, neither did haplotype analysis show significant differences between the two groups. A cross-sectional study revealed no significant relationship between common SERPINA1 polymorphisms (PiM1, PiM2, PiM3) and the emphysematous type of COPD. In addition, FEV1 annual decline, determined during a two-year follow up period, revealed no difference among carriers of the tested polymorphisms.

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BACKGROUND: AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number of small studies. We therefore planned a screening study for detection of AATD in patients with OLD in a cohort of patients from Kairouan in central Tunisia. METHODS: One hundred twenty patients with OLD (asthma, emphysema, COPD) were enrolled in the screening programme. Laboratory diagnosis for AATD was performed according to current diagnostic standards. RESULTS: We found that 6/120 OLD patients carried an AAT deficient allele, 1 PI*MZ, 1 PI*MPlowel, 3 PI*MMmalton, 1 PI*MMwurzburg. CONCLUSION: this pilot study demonstrated that alleles related to deficiency of AAT are not absent in the Tunisian population, and that rare AATD variants prevailed over commonest PI*Z variant. These results would support a larger scale screening for AATD in Tunisia.

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AIMS: In this study, the effects of four single nucleotide polymorphisms (SNPs), -3860G>A, -2467delT, -739T>G and -163C>A, of CYP1A2 gene on lung cancer were evaluated in Tunisian population. MAIN METHODS: Four polymorphisms of CYP1A2 gene were analysed in 109 healthy smokers and in 101 lung cancer cases, including 63 with squamous cell carcinoma (SCC) and 41 with adenocarcinoma (AD). The genotyping for the SNPs -3860 G>A, -2467delT, -739T>G and -163C>A was performed by polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis. KEY FINDINGS: The results showed that smokers with CYP1A2 gene polymorphisms were associated with an increased risk for the development of lung AD. There was however no significant increased risk of developing lung SCC in smokers having CYP1A2 gene polymorphisms. An increased risk of developing AD was observed in smokers who are carriers of at least one copy of -3680A or -739G giving a significant odds ratio (OR) of 6.02 (CI=2.91-12.9) and 3.01 (CI=1.54-5.98), respectively. SIGNIFICANCE: These genotyping data are consistent with the hypothesis that tobacco-specific-N-nitrosamines (TSN) such as 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK) are major contributors to the development of lung AD and that CYP1A2 gene product plays an important role in the metabolic activation of NNK. This study suggests that SNPs of CYP1A2 could be considered as promising biomarkers in the aetiology of lung AD in smokers.

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OBJECTIVE: To assess the association between primary spontaneous pneumothorax (PSP) recurrence and pulmonary CT scan findings, and other variables pertaining to clinical presentation and management. METHODS: Consecutive patients hospitalized for the first episode of PSP and treated by various strategies including chest tube or pleurocatheter drainage and, in persistent pneumothorax, by chemical or surgical pleurodesis. All patients had a pulmonary CT scan examination in the week following hospital discharge in order to calculate a score combining distribution, number and size of dystrophic pulmonary abnormalities. This score as well as other pertinent clinical and therapeutic parameters were compared between patients who ultimately experienced PSP recurrence and those who did not. RESULTS: Eighty patients (mean age: 27+/-7 yr) were admitted for PSP and had a chest drainage with either a drain or pleurocatheter. Chest drainage and hospitalization durations were 4.7+/-3.2 and 6.2+/-3.5 days, respectively. Sixteen patients required chemical pleurodesis. Dystrophic bullae were present in CT scans in 72.5% patients. After a mean follow up of 34+/-20 months, 15 out of the 80 patients (19%) had a PSP recurrence. Multivariate statistical analysis disclosed the use of pleurocatheter (OR=5; 95% CI: 1.4-20; P=0.02) and of chemical pleurodesis (OR=8; 95% CI: 1.5-47; P=0.015) as independent predictors of PSP recurrence. The severity of dystrophic lesions inferred from the dystrophic score was not statistically associated with the risk of recurrence. CONCLUSION: Dystrophic lesions are frequently present in PSP. They are not associated with an increased risk of recurrence.

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RATIONALE: Cardiac biomarkers are used to distinguish acute dyspnea due to left-heart dysfunction from that of pulmonary origin. However, they have not been assessed in the specific setting of acute exacerbation of chronic obstructive pulmonary disease (AECOPD), where they might be released without left-heart impairment. OBJECTIVE: To assess the accuracy of troponin T and of amino-terminal pro-brain natriuretic peptide (NT-proBNP) in the diagnosis of AECOPD associated with left ventricular (LV) dysfunction. METHODS: Both biomarkers were measured in 148 consecutive patients on intensive care unit admission for AECOPD. A panel of physicians adjudicated blindly the cause of AECOPD to be unlikely, possibly associated, or definitely associated with LV dysfunction. MEASUREMENTS AND MAIN RESULTS: The final diagnosis was AECOPD definitely associated with acute left-heart dysfunction in 31.1%, possibly associated with LV dysfunction in 13.5%, and probably not associated with LV dysfunction in 55.4%. Both NT-proBNP and troponin T levels were significantly different among the three groups. The area under the receiver operating characteristic curve was greater for NT-proBNP (0.95 vs. 0.67). A cutoff of 1,000 pg/ml was accurate to rule out left-heart involvement in AECOPD (sensitivity, 94%; negative predictive value, 94%; negative likelihood ratio, 0.08). A cutoff of 2,500 pg/ml had the best operating characteristics to rule in the diagnosis (positive likelihood ratio, 5.16). Left-heart involvement in AECOPD was the only variable independently associated with increased secretion of NT-proBNP (odds ratio, 74; 95% confidence interval, 15-375; p = 0.0001). CONCLUSION: NT-proBNP and troponin T are useful in excluding AECOPD associated with left ventricular dysfunction. NT-proBNP was the more accurate of the two.

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PURPOSE: Little is known about compliance with international guidelines of asthma management in developing countries where some medications are prohibitively expensive. METHODS: A survey was conducted in asthmatic patients attending the emergency department for acute asthma. Asthma severity was evaluated and conformity of chronic treatment with international guidelines was assessed. Additional features of asthmatic education were also evaluated. RESULTS: A total of 127 consecutive patients (mean age 34 +/- 14 years) answered the questionnaire. Mild asthma was present in 19.7% patients, 56.7% had moderate asthma and 23.6% had severe asthma. Of the 124 known asthmatic patients, 33% had no treatment for chronic asthma. In the remaining, treatment adhered to international guidelines in 44% patients. The major cause of treatment inadequacy was the lack of inhaled corticosteroids (64%) or suboptimal dosage of corticosteroids (13%). Conformity to guidelines according to favorable or unfavorable economic conditions was 59% and 33%, respectively (P = 0.036). Treating physicians provided an 'action plan' for managing acute symptoms to 19% patients. Forty percent of asthmatic patients performed correctly the five components of metered dose inhaler use. CONCLUSION: Our study reveals an important proportion of non-treated asthmatic patients. In most asthmatic patients, treatment did not conform with guidelines because of an underutilization of corticosteroids, mainly because of economic obstacles.

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In order to reduce the mortality and morbidity by asthma in perpetual increasing, taking in charge of asthmatic child must be general (therapeutic and educative) with the intention to stabilize il cause of the lack of curing ait. The aim of our work was to determinate the factors in stability of asthma. Our study was retrospective, inducing 150 asthmatic children regularly observed since at least 6 months and more than 4 years old: 77 of them was judged stable and 73 unstable. Stable asthma concerned insignificatively children who are more than 8 year old, from urban areas, unexposed to tobacco living is sunny homes and when there is no associated factors like effort asthma and gastro-oesophagien reflux. Instability of asthma has been in significantly correlated with the initial severity and non adaption to treatment.

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