Association of mannose binding lectin with chronic obstructive pulmonary disease susceptibility and its clinical outcomes.

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.

Lichen scrofulosorum: An uncommon manifestation of a common disease.

Tuberculid is a cutaneous immunologic reaction to the presence of tuberculosis (TB), which is often occult, elsewhere in the body or their fragments released from a different site of manifest or past tuberculous infection. These eruptive lesions are due to hematogenous dissemination of bacilli in a host with a high degree of immunity against Mycobacterium tuberculosis. Although rare, these specific lesions are important diagnostic markers of TB. Lichen scrofulosorum (LS) is one of the recognized tuberculids, usually seen in children and young adults. We report a female who was diagnosed with LS and was treated appropriately. This case report highlights the uncommon, easily misdiagnosed but readily treatable case of LS and emphasizes its early diagnosis, detection, and treatment of otherwise an occult systemic TB in young patients.

Esophageal tuberculosis: A rare case report.

After a steady decline throughout the 20th century, the incidence of tuberculosis (TB) in industrialized countries has started to rise again. However, in developing countries like India, the menace of TB had never been controlled. Gastrointestinal (GI) TB is rare, and the GI tract is considered only the sixth most frequent site of extrapulmonary TB. Esophageal TB (ET) is still rarer. This is a case report of a rare form of ET in a patient presenting with dysphagia. The patient was subjected to upper GI endoscopy, which revealed an ulcerative growth in the distal esophagus. Histopathology revealed ET. The patient was managed conservatively with anti-TB treatment (ATT). In spite of the rare nature of the disease, it can be managed effectively with ATT to avoid complications (fistula, stricture, and esophageal perforation), which might warrant surgery.