RESUMO
BACKGROUND: The physiological interactions of MBL suggest its contribution towards the pathogenesis of COPD. OBJECTIVE: The present case-control study was undertaken to elucidate the role of MBL with COPD risk and clinical outcomes in north Indian cohort. METHODS: Patients were enrolled as per GOLD criteria. MBL2 variants were selected based on the literature and their putative functional significance. Genotyping of six single nucleotide polymorphisms of MBL2 comprising of two coding (rs1800450, rs1800451) and four non-coding variants (rs11003125, rs7096206, rs11003123 and rs7095891) was done by using PCR-RFLP and ARMS-PCR. Serum MBL levels were analysed by sandwich ELISA. RESULTS: Overall findings of the molecular genetic analysis of MBL2 indicated significant difference in frequency of three of the six studied variants, between patients and controls or among different disease severity stages. Heterozygous genotype of rs7095891 showed significant protective association towards severity of disease. Linkage disequilibrium (LD) analysis indicated a strong LD between rs1800450 and rs7095891 while intermediate LD was observed for rs11003123/rs11003125 and rs7096206/rs11003125. Haplotype analysis revealed 17.14-fold risk of developing exacerbations conferred by GGGTGG haplotype. Significantly low serum MBL levels observed in COPD patients as compared to controls. Significant difference in MBL deficiency levels were also observed for homozygous wild and variant genotypes of rs11003125 and rs7096206 respectively, as well as for all genotypes of rs11003123 than respective controls. CONCLUSION: The present study reinforces the role played by MBL in the susceptibility, protection and clinical outcomes of COPD. Therefore, including the reported associations at diagnostic, prognostic and therapeutic interventions may prove helpful.
Assuntos
Lectina de Ligação a Manose , Doença Pulmonar Obstrutiva Crônica , Humanos , Genótipo , Polimorfismo de Nucleotídeo Único/genética , Haplótipos/genética , Doença Pulmonar Obstrutiva Crônica/genética , Lectina de Ligação a Manose/genética , Estudos de Casos e Controles , Predisposição Genética para DoençaRESUMO
An unusual case of skeletal tuberculosis, presenting as a hard swelling and sclerotic lesion in the medial end of the clavicle is presented. With re-emergence of tuberculosis as an important infection worldwide, and the ability of this disease to mimic many skeletal pathologies, this has to be included in the differential diagnosis, especially at unusual sites.
Assuntos
Clavícula , Tuberculose Osteoarticular/diagnóstico , Adulto , Clavícula/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Radiografia , Esclerose/diagnóstico por imagemRESUMO
Pulmonary alveolar microlithiasis (PAM) is a rare disease. Herein we report a case of pulmonary alveolar microlithiasis who was suspected to have the disease on chest X-ray and was confirmed on high resolution CT and transbronchial lung biopsy. These investigations showed characteristic features of pulmonary alveolar microlithiasis with diffuse interstitial pulmonary fibrosis.
RESUMO
Bronchoesophageal fistula in an adult is rarely encountered in clinical practice. Most commonly, they have malignant origin. We report a case of bronchoesophageal fistula secondary to trauma caused by upper gastrointestinal endoscopy. The patient presented with recurrent chest infections and dysphagia since he underwent endoscopic procedure for obstructed denture. Barium swallow study revealed fistulous connection between right lower lobe bronchus and esophagus.