RESUMEN
Aim: The aim of this study was to monitor prescription patterns, clinical outcomes, and adverse drug reactions (ADR) among patients of various interstitial lung diseases (ILDs). Materials and Methods: This prospective study was conducted in the Department of Pharmacology and Therapeutics in collaboration with the Department of Respiratory Medicine, King George's Medical University, Lucknow, for a period of 12 months (October 2020-September 2021). A total of 77 patients were enrolled after satisfying the inclusion and exclusion criteria. The prescriptions were collected, and necessary details were noted on the case report form. After completion of the study, the data were analyzed for prescription patterns, clinical outcomes, and quality of life with the help of a validated questionnaire-King's Brief ILD (KBILD) questionnaire. At the same time, ADRs, if any, were assessed using Hartwig's Severity Assessment Scale and Naranjo Causality Assessment Scale. Results: The most common ILD was acute/chronic hypersensitivity pneumonitis (HP). Average number of drugs per encounter was 4.45. Crepitations were the most common clinical signs. Clubbing and rhonchi were reported maximum in idiopathic pulmonary fibrosis. It was found that psychological, breathlessness and activities, chest symptoms, and total KBILD reduced significantly after 3 months as compared to baseline with a statistically significant difference as P < 0.01. ADRs were found in 23.38% (18) of the subjects. Maximum ADR reported was gastritis (9.09%), followed by hepatitis (3.90%). Conclusion: The high proportion of patients clinically diagnosed with HP in our study highlights the importance of a detailed environmental exposure history in the diagnostic evaluation of patients with ILD to avoid inaccurate diagnoses. ADR-related hospital admissions are a significant problem in the health-care system.
RESUMEN
BACKGROUND: Pericardial effusion is the accumulation of fluid in the pericardial cavity. In nations with high tuberculosis (TB) load, TB is the most common cause of pericardial effusion. 1-2% of patients with pulmonary TB develop Pericardial TB worldwide. Multi-drug-resistant (MDR) TB, including extrapulmonary TB (EPTB) cases, are rising in number. Adenosine Deaminase (ADA) is an enzyme in lymphocytes and myeloid cells, which has certain immune functions in the body. ADA levels are increased in inflammatory conditions, like pleural, pericardial, or joint effusions, of bacterial etiology, granulomatous conditions, neoplasms, and autoimmune pathologies. TB is the only lymphocytosis involving disease with increased ADA levels. MDR EPTB is rare, but cases are on the rise, and tuberculous pericardial effusion is one such example. Hence, it is important to know the percentage of cases detected by a culture that can be identified by cartridge-based nucleic acid amplification test (CBNAAT), their resistance patterns, and to identify potential markers like ADA, which can help in early identification of cases. The objectives of this study were to identify the Mycobacterium tuberculosis (MTB) bacilli in culture, and correlate them with cartridge-based nucleic acid amplification test (CBNAAT) results and their drug-resistance, in the Pericardial tubercular effusion, and to find if Adenosine Deaminase (ADA) levels can be used as a predictor of the presence of MTB in pericardial fluid. METHODOLOGY: We enrolled 52 patients with moderate to large tuberculous pericardial effusion, based on pericardial fluid analysis, CBNAAT, and culture methods, between January 2021 and December 2021. RESULTS: The mean age of the patients was 41.85 + 17.88 years, with a median of 38 years. Males made up 57.7% of the total patients. MTB was detected in 16 (30.8%) patients in the CBNAAT evaluations. 14 (87.5%) of the CBNAAT-positive TB patients were sensitive to Rifampicin, whereas the remaining 2 (12.5%) were resistant to Rifampicin on CBNAAT. MTB was found to be growing in 8 (15.38%) drug sensitivity test cultures. Out of these 8, 6 were sensitive to first-line drugs, whereas 2 were resistant to both Isoniazid and Rifampicin. The presence of cough was found to have a significant difference between CBNAAT-detected MTB positive and negative patients (p = 0.020), whereas an insignificant difference was found for the presence of hypertension, diabetes mellitus, obesity, dyspnea, or fever. There was also an insignificant difference between the number of patients positive for the Tuberculin skin test, between the two groups. ADA was significantly higher in the MTB-detected CBNAAT group (85.91 + 37.60U/L vs 39.78 + 24.31U/L, p = 0.005), whereas the total leukocyte count, lymphocytes, neutrophils, random blood sugar levels, and serum protein levels had no significant difference. The area under the Receiver Operator Curve (CBNAAT positive: dependent variable; ADA: test result variable) was 0.854 (null hypothesis rejected), with a standard error of 0.078. CONCLUSIONS: Culture is the gold standard method to diagnose tuberculosis. Detection of MTB on pericardial fluid culture is very uncommon, though in our study, culture came out positive in 16% of patients, and 4% were resistant to rifampicin and isoniazid. Higher ADA levels in pericardial fluid are an indicator of tuberculous pericardial effusion.
Asunto(s)
Adenosina Desaminasa , Mycobacterium tuberculosis , Técnicas de Amplificación de Ácido Nucleico , Derrame Pericárdico , Tuberculosis Resistente a Múltiples Medicamentos , Humanos , Adenosina Desaminasa/análisis , Adenosina Desaminasa/metabolismo , Mycobacterium tuberculosis/aislamiento & purificación , Tuberculosis Resistente a Múltiples Medicamentos/diagnóstico , Masculino , Adulto , Femenino , Derrame Pericárdico/microbiología , Persona de Mediana Edad , Líquido Pericárdico , Adulto Joven , Antituberculosos/farmacología , Antituberculosos/uso terapéutico , Pericarditis Tuberculosa/diagnósticoRESUMEN
Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterized by benign cutaneous lesions, lung cysts, and increased risk of spontaneous pneumothorax and renal cancer. We report a case of a young Indian boy with bilateral pneumothorax as the first symptom of BHDS. Detailed history examination and investigation showed multiple facial lesions; his computerized tomography was suggestive of renal angiomyolipoma, hepatic angiomyolipoma, pulmonary cyst with pneumothorax, and small bilateral subependymal soft tissue density lesion with calcification in the brain, all of which were collectively suggestive of BHDS. Identification of the above commonly presented clinical features as a syndrome is important for even a primary care physician so as to ensure the timely management and if required referral to a higher center.
RESUMEN
BACKGROUND AND OBJECTIVE: Tobacco smoking is an established risk factor for chronic obstructive pulmonary disease (COPD). Current evidence suggests that non-tobacco-related risk factors vary geographically and are less understood than smoking. This study aims to compare the risk factors, symptoms, and clinical features of smoking (S-COPD) and non-smoking (NS-COPD) in a COPD population. MATERIALS AND METHODS: In this retrospective cross-sectional study, 489 COPD patients were screened. Data on socio-demographics, smoking and medical history, other risk factors, symptoms, and clinical characteristics including COPD Assessment Test (CAT) score, and Modified Medical Research Council (mMRC) Dyspnea Scale were examined. RESULTS: Of the total selected 416 COPD patients, 35.34% were NS-COPD while 64.66% were S-COPD. S-COPD was predominant in males, whereas NS-COPD was predominant in females (P < 0.0001). In NS-COPD, biomass fuel exposure was a major risk factor (P < 0.0001), and 61% of subjects had a biomass fuel exposure index of >60. In bivariate and multivariate analyses, no risk factors were correlated with forced expiratory volume in 1 second (FEV1)% predicted, while among clinical features, duration of illness (P = 0.001) was correlated with lower values of FEV1 in the multivariate table of S-COPD. In the multivariate analysis, biomass fuel exposure (P = 0.039) and CAT score (P < 0.0001) were correlated with FEV1(%) in NS-COPD. CONCLUSION: Biomass fuel exposure is a substantial risk factor for NS-COPD and was correlated with FEV1(%) predicted. In addition, the CAT score correlated with disease severity in patients with NS-COPD. The development of COPD in non-smokers is being recognized as a separate phenotype and it should be managed according to risk factors.
RESUMEN
Background Drug-resistant tuberculosis is a major health issue around the world. The time it takes to find a sputum-positive patient is a major risk factor for the spread of tuberculosis, and many things can indicate a longer time to culture conversion. Also, there is strong proof that poor nutrition is linked to infectious diseases. So, this study aimed to look into the link between a person's body mass index (BMI) and the change of a sputum culture within three months in people who have rifampicin-resistant (RR)/multidrug-resistant (MDR)-tuberculosis (TB) kept on a bedaquiline-based regimen. Materials and methods The Department of Respiratory Medicine at King George's Medical University, Lucknow, hosted an observational, analytical, prospective, single-center study from May 2020 to April 2021. The study included 105 people who had been identified with RR/MDR-TB and were on an optimized background regimen that included a bedaquiline-based regimen. The result we were interested in was sputum culture conversion within three months, and we looked at how BMI related to that outcome. Analytical analyses utilized Pearson's chi-square test for categorical variables and the t-test for continuous variables. Differences with a P-value of <0.05 were considered significant. SPSS software (version 18.0, IBM Corp., Armonk, NY, USA) was used for all analyses, with missing data not replaced or credited. Results A total of 105 people who met the inclusion and exclusion criteria were analyzed. The patients had a mean age of 33.34 years and were mostly male 61 (58%). Fifty-eight (58; 55%) patients lived in rural areas. Most patients had fever 77 (73%), cough 72 (69%), and weight loss 66 (63%). Sixty-nine (69; 66%) patients had a history of TB. Fifty-seven patients had a BMI of <18.5 kg/m2, and 48 patients had with BMI of ≥18.5. At the end of the study, 75/105 patients converted their sputum culture. Of the 105 patients, 57 (54%) had a low BMI (less than 18.5 kg/m2). Among the 57 patients with a BMI of <18.5 kg/m2, only 28 (46%) achieved sputum culture conversion after 3 months while 29 (60%) of 48 with BMI ≥18.5 achieved sputum culture conversion after 3 months. Among the patients with a BMI <18.5, 15/57 (26%) tested positive for sputum culture after three months. In patients with a BMI of ≥18.5, only 4/48 (8%) patients tested positive for sputum culture after three months. Conclusion In patients with drug-resistant tuberculosis, low BMI (<18.5 kg/m2) was an independent risk factor for failing to convert sputum cultures within three months.
RESUMEN
Chronic obstructive pulmonary disease (COPD), a heterogeneous respiratory disease driven by various genetic and environmental factors, presents significant challenges in diagnosis and management. Traditional approaches focused on phenotypic classification, but recent paradigms emphasize identifying and addressing treatable traits to personalize treatment strategies. Treatable traits facilitate personalized interventions, optimizing symptom control, and reducing exacerbation risk. Dyspnea and exacerbations, recognized as key traits, guide treatment decisions and follow-up management. Various interventions, including bronchodilators, corticosteroids, and lifestyle modifications, target specific traits like airway inflammation, mucus overproduction, and emphysema. Strategies for assessing and addressing treatable traits during initial encounters and follow-up visits enhance disease monitoring and treatment efficacy. Comprehensive trait assessment demands resources and specialized monitoring, posing barriers to widespread implementation. The lack of standardized protocols and evolving evidence further complicates decision-making and clinical practice. Despite these challenges, the shift toward treatable traits-based management signifies a pivotal advancement in COPD care, emphasizing holistic approaches tailored to individual patient needs. Recognizing and addressing treatable traits offers personalized interventions, enhancing symptom control and disease management. Embracing treatable traits-based approaches holds promise for improving clinical outcomes and enhancing the quality of life for individuals living with COPD.
RESUMEN
Pleural effusion is a common problem in our country, and most of these patients need invasive tests as they can't be evaluated by blood tests alone. The simplest of them is diagnostic pleural aspiration, and diagnostic techniques such as medical thoracoscopy are being performed more frequently than ever before. However, most physicians in India treat pleural effusion empirically, leading to delays in diagnosis, misdiagnosis and complications from wrong treatments. This situation must change, and the adoption of evidence-based protocols is urgently needed. Furthermore, the spectrum of pleural disease in India is different from that in the West, and yet Western guidelines and algorithms are used by Indian physicians. Therefore, India-specific consensus guidelines are needed. To fulfil this need, the Indian Chest Society and the National College of Chest Physicians; the premier societies for pulmonary physicians came together to create this National guideline. This document aims to provide evidence based recommendations on basic principles, initial assessment, diagnostic modalities and management of pleural effusions.
RESUMEN
Small cell lung carcinoma (SCLC) is characterized by rapid growth and an aggressive clinical course. Standard therapy regimes have limited effects on disease course; therefore the prognosis of SCLC is poor. In the current study, the frequency of programmed death ligand 1 (PD-L1) expression in SCLC and its correlation with clinico-pathological features were evaluated. The study included 100 cases of SCLC wherein testing for PD-L1 was done with the SP263 clone on the Ventana benchmark XT system. Cases with > 1% PD-L1 expression in tumour cells or immune cells were categorized as positive. PD-L1 expression was identified in 14% of cases using the cut-off of ≥ 1%. The tumour proportion score was 10% and the immune proportion score was 9.78% using a cut-off of ≥ 1%. PD-L1 positive expression was more frequent in the male population with age > 40 years. All the patients with positive PD-L1 expression were smokers. In the PD-L1 positive group, presence of necrosis was identified in 71.4% of cases and when compared with the PD-L1 negative subgroup this finding was statistically significant (p = 0.010). Personalized targeted therapy for cases of SCLC is still under evaluation. The use of immunotherapeutic targets, such as PD-L1, may help to define a new treatment strategy for SCLC. Development of new treatment strategies may improve prognosis and survival.
Asunto(s)
Antígeno B7-H1 , Biomarcadores de Tumor , Neoplasias Pulmonares , Carcinoma Pulmonar de Células Pequeñas , Humanos , Antígeno B7-H1/metabolismo , Antígeno B7-H1/análisis , Masculino , Carcinoma Pulmonar de Células Pequeñas/patología , Carcinoma Pulmonar de Células Pequeñas/metabolismo , Femenino , Persona de Mediana Edad , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/metabolismo , Adulto , Anciano , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/metabolismo , Anciano de 80 o más Años , Inmunohistoquímica , PronósticoRESUMEN
MAIN CONCLUSION: Mutation of OsSHR2 adversely impacted root and shoot growth and impaired plant response to N conditions, further reducing the yield per plant. Nitrogen (N) is a crucial factor that regulates the plant architecture. There is still a lack of research on it. In our study, it was observed that the knockout of the SHORTROOT 2 (OsSHR2) which was induced by N deficiency, can significantly affect the regulation of plant architecture response to N in rice. Under N deficiency, the mutation of OsSHR2 significantly reduced root growth, and impaired the sensitivity of the root meristem length to N deficiency. The mutants were found to have approximately a 15% reduction in plant height compared to wild type. But mutants showed a significant increase in tillering at post-heading stage, approximately 26% more than the wild type, particularly in high N conditions. In addition, due to reduced seed setting rate and 1000-grain weight, mutant yield was significantly decreased by approximately 33% under low N fertilizer supply. The mutation also changed the distribution of N between the vegetative and reproductive organs. Our findings suggest that the transcription factor OsSHR2 plays a regulatory role in the response of plant architecture and yield per plant to N in rice.
Asunto(s)
Regulación de la Expresión Génica de las Plantas , Nitrógeno , Oryza , Factores de Transcripción , Regulación de la Expresión Génica de las Plantas/efectos de los fármacos , Meristema/genética , Meristema/crecimiento & desarrollo , Meristema/efectos de los fármacos , Mutación , Nitrógeno/metabolismo , Nitrógeno/farmacología , Oryza/genética , Oryza/crecimiento & desarrollo , Oryza/metabolismo , Oryza/efectos de los fármacos , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Raíces de Plantas/crecimiento & desarrollo , Raíces de Plantas/genética , Raíces de Plantas/efectos de los fármacos , Raíces de Plantas/metabolismo , Factores de Transcripción/genética , Factores de Transcripción/metabolismoRESUMEN
KEY MESSAGE: The integration of genomic prediction with crop growth models enabled the estimation of missing environmental variables which improved the prediction accuracy of grain yield. Since the invention of whole-genome prediction (WGP) more than two decades ago, breeding programmes have established extensive reference populations that are cultivated under diverse environmental conditions. The introduction of the CGM-WGP model, which integrates crop growth models (CGM) with WGP, has expanded the applications of WGP to the prediction of unphenotyped traits in untested environments, including future climates. However, CGMs require multiple seasonal environmental records, unlike WGP, which makes CGM-WGP less accurate when applied to historical reference populations that lack crucial environmental inputs. Here, we investigated the ability of CGM-WGP to approximate missing environmental variables to improve prediction accuracy. Two environmental variables in a wheat CGM, initial soil water content (InitlSoilWCont) and initial nitrate profile, were sampled from different normal distributions separately or jointly in each iteration within the CGM-WGP algorithm. Our results showed that sampling InitlSoilWCont alone gave the best results and improved the prediction accuracy of grain number by 0.07, yield by 0.06 and protein content by 0.03. When using the sampled InitlSoilWCont values as an input for the traditional CGM, the average narrow-sense heritability of the genotype-specific parameters (GSPs) improved by 0.05, with GNSlope, PreAnthRes, and VernSen showing the greatest improvements. Moreover, the root mean square of errors for grain number and yield was reduced by about 7% for CGM and 31% for CGM-WGP when using the sampled InitlSoilWCont values. Our results demonstrate the advantage of sampling missing environmental variables in CGM-WGP to improve prediction accuracy and increase the size of the reference population by enabling the utilisation of historical data that are missing environmental records.
Asunto(s)
Fitomejoramiento , Triticum , Triticum/genética , Genoma , Genómica/métodos , Genotipo , Fenotipo , Grano Comestible/genética , Modelos GenéticosRESUMEN
Background Tobacco is prevalently used in smoking or smokeless forms and remains a major public health concern worldwide, with its adverse effects on overall health. Omega-3 fatty acid (FA) has shown its promising effects in various health conditions. Objective The purpose of this study was to evaluate the effect of flaxseed oil (omega-3 supplementation) on tobacco dependence, craving, withdrawal symptoms, and haematological parameters in tobacco users. Methods In this randomised, single-blind, placebo-controlled study, 104 tobacco users (54 in the omega-3 group and 50 in the placebo group) were supplemented with 10 ml of food-grade flaxseed oil and 10 ml of placebo for six months, respectively. Their demographics, frequency of daily tobacco use, tobacco dependence, tobacco craving, tobacco withdrawal symptoms, and complete blood count (CBC) were assessed at baseline (before intervention) and after a six-month intervention. Results The demographic characteristics of the two groups were similar except for gender at baseline. There were 50 males and four females in the omega-3 group, while there were 42 males and eight females in the placebo group. After a six-month flaxseed oil intervention, BMI values showed a significant reduction (p = 0.0081) in the omega-3 group when compared to baseline; however, CBC parameters did not show any significant changes when comparing baseline to follow-up values. On the contrary, haemoglobin and red blood cells (RBCs) showed significant changes when comparing the follow-ups of the omega-3 group with the placebo group, indicating p = 0.0016 and p = 0.0163, respectively. Also, omega-3 effectively decreased daily tobacco use frequency (p<0.0001), tobacco dependence (p<0.0001), and craving (p<0.0001). Conclusion Supplementation of 10 ml of flaxseed oil per day (omega-3 FA) for six months significantly reduced tobacco dependence and cravings. Additionally, the flaxseed oil supplementation effectively reduced the frequency of daily tobacco intake and modulated tobacco withdrawal symptoms. Thus, our results suggest that flaxseed oil supplementation is a useful adjunct for tobacco users who intend to quit tobacco use.
RESUMEN
Pulmonary sequestration and cystic pulmonary adenomatoid malformation are rare congenital cystic disorders of the lungs. The presence of both the diseases in the same individual is therefore very uncommon. Pulmonary sequestration is a nonfunctional pulmonary tissue mass that derives its blood supply from systemic blood supply other than pulmonary circulation. Congenital cystic pulmonary adenomatoid malformation represents a mass consisting of abnormal bronchiolar air spaces and a deficiency of functional alveoli. This is the case report of a 9-year-old girl with intermittent fever, left-sided chest pain, and cough for the past 15 days along with recurrent coughs since childhood suggestive of hybrid pulmonary sequestration, congenital cystic adenomatoid malformation, and dextrocardia.
RESUMEN
The persistent morbidity and mortality associated with tuberculosis (TB), despite our continued efforts, has been long recognized, and the rise in the incidence of drug-resistant TB adds to the preexisting concern. The bulk of the TB burden is confined to low-income countries, and rigorous efforts are made to detect, notify, and systematically treat TB. Efforts have been infused with renewed vigor and determination by the World Health Organization (WHO) to eliminate tuberculosis in the near future. Different health agencies worldwide are harvesting all possible strategies apart from consolidating ongoing practices, including prevention of the development of active disease by treating latent TB infection (LTBI). The guidelines for the same were already provided by the WHO and were then adapted in the Indian guidelines for the treatment of LTBI in 2021. While the long-term impact of TBI treatment is awaited, in this article, we aim to discuss the implications in the Indian context.
RESUMEN
Background: Immunotherapy currently stands as a novel treatment option, specifically in cases of advanced non-small cell lung carcinoma (NSCLC). Expression of programmed death ligand-1 (PD-L1) in tumor cells forms the mainstay for the use of anti-PD-L1 monoclonal antibodies in the treatment of NSCLC. Aims: The objectives of the study were to assess utility of cell blocks for testing of PD-L1 in adenocarcinoma lung and to compare the expression of PD-L1 in cell blocks and the corresponding biopsy specimens. Materials and Methods: The current study was a prospective case series that included 20 cases of NSCLC-adenocarcinoma lung. Cases included in the study had biopsies performed from lung masses, along with which cell blocks were prepared from fine needle aspiration cytology (FNAC) samples. Testing for PD-L1 was done using the monoclonal PD-L1 antibody, SP-263 clone on the Ventana Benchmark XT system. PD-L1 expression was assessed only in the tumor cells, and cases with >1% expression, cytoplasmic or membranous, in tumor cells were categorized as positive. Results: PD-L1 expression was identified in the biopsy samples of tumor cells of 20% of cases (n = 4/20). In the corresponding cell blocks, PD-L1 expression was identified in the tumor cells of 15% of cases (n = 3/20). Sensitivity and specificity of cell blocks were 75% and 100%, respectively. Positive and negative predictive values were 100% and 94.12%, respectively. Conclusion: PD-L1 testing has both predictive and prognostic implications. PD-L1 testing in cell block samples is a potential alternative, specifically in cases where biopsy tissue is minimal or unavailable.
RESUMEN
Pyopneumothorax is a rare complication of pulmonary tuberculosis, contributing significantly to morbidity and mortality. Additionally, factor XIII deficiency, a rare bleeding disorder, may pose a diagnostic challenge due to normal results in routine coagulation tests. We present the case of an 18-year-old boy who presented with a history of left-sided pyopneumothorax secondary to drug-sensitive Mycobacterium tuberculosis, complicated by congenital factor XIII deficiency. After three months of intercostal drainage placement, the patient developed severe anemia and bleeding tendencies, necessitating a referral to clinical hematology. Genetic testing revealed factor XIII deficiency. This case highlights the complicated interplay between tuberculosis-related complications and a coexisting genetic disorder, highlighting the importance of comprehensive clinical assessment and multidisciplinary management.
RESUMEN
The paradoxical reaction (PR) is a transient worsening following tuberculosis treatment and it is not uncommon in lymph node tuberculosis (LNTB). PR in LNTB maybe wrongly considered as treatment failure or relapse. This review was undertaken to address various aspects of PR associated with lymph node tuberculosis prevalence, underlying mechanism, clinical pattern, predictors, and possible treatment in an immunocompetent individual. A literature review was performed using various databases (PubMed, Scopus, Science Direct, and Google Scholar) to identify relevant articles for review. The prevalence of paradoxical reactions associated with LNTB varies from as low as 13.3% to as high as 35.3% PR may occur during antitubercular treatment or be reported even after completion of treatment called post-therapy PR. An onset of PR may occur within a month of therapy to even 12 months from the initiation of an anti-tubercular drug. Delayed hypersensitivity reaction and reduction in immune suppression is believed to be possible mechanism leading to a paradoxical reaction. PR in LNTB is characterized by either progression of pre-existing nodal enlargement or formation of abscess, sinus formation, or appearance of new nodal enlargement or rarely extra-nodal involvement. PR is a diagnosis of exclusion and may show granuloma, positive AFB smear, or positive GeneXpert but AFB culture is always negative. Younger age, lymph node size of equal to or more than 3 cm, female gender, unilateral lymphadenopathy, and those with positive AFB on initial examination are predictors for PR in peripheral LNTB. The majority of PR in LNTB have a mild course and are generally self-limited.
RESUMEN
Patients with chronic obstructive pulmonary disease (COPD) have obstructed airflow through their lungs. Single nucleotide polymorphisms in matrix metalloproteinases (MMPs) genes and the risk of COPD have been the subject of numerous studies, with conflicting results. This investigation was conducted to determine whether the MMP7 (T>C) gene variant (rs10502001) was associated with an increased risk of COPD. A case-control study was conducted with 360 subjects (180 healthy controls and 180 COPD cases). The polymerase chain reaction (PCR)-restriction fragment length polymorphism method was used to genotype the SNP rs1050200. mRNA expression of MMP7 was performed using RT-PCR. The genotypic/allelic frequencies and carriage rates of rs10502001 (T>C) polymorphism were evaluated in 180 each of healthy controls and COPD cases. Cases have higher TC/CC genotype frequencies than controls. The "CC" genotype was found to be significantly associated with increased COPD risk (p = 0.016). The "C" allele frequency was higher in cases than in controls and showed significant association with COPD (p = 0.005). The carriage rate frequencies of T(-) and C(+) were significantly higher in cases than in controls (p = 0.031 and 0.047, respectively). MMP7 expression was significantly upregulated (p = 0.001) in COPD cases as compared with the controls. In addition, comparisons of MMP7 expression between the COPD cases with different genotypes showed that the "CC" genotype cases had significantly higher expression than those with "TT" genotype. The present findings showed statistically significant correlation of MMP7 (T>C) polymorphism and expression with COPD. Therefore, MMP7 responsible for degradation of elastin has been strongly linked to the progression of COPD.