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1.
Indian J Dermatol Venereol Leprol ; 89(2): 247-253, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-34114423

RESUMO

BACKGROUND: Psoriasis is associated with significant morbidity and impaired quality of life. Identification of the host genes that influence disease susceptibility and can potentially guide future, targeted therapy is the need of the hour. AIMS: The aim of the study was to investigate the associations of macrophage migration inhibitory factor (MIF) gene polymorphisms, that is, a 5-8-CATT tetra nucleotide repeats at -794 (-794*CATT5-8) and a single-nucleotide polymorphism at -173 (-173*G/C) with the risk of chronic plaque psoriasis and to observe the correlation, if any, of disease determinants with genetic functional variants and circulating MIF levels. METHODS: Five hundred and seventeen individuals (265 psoriasis patients and 252 controls) were genotyped for MIF gene polymorphisms. Data were analyzed with respect to disease susceptibility, serum MIF levels, disease severity, age at onset, disease duration and presence of comorbidities. RESULTS: The presence of co-morbidities was more frequently noted in patients with late onset disease (P = 0.01). No statistically significant differences were observed either in genotype (P = 0.680) or allele frequency (P = 0.69) with respect to distribution of MIF-173*G/C polymorphism between patients and controls. The frequencies of genotypes -794*CATT 5/7 and 7/7 were significantly lower in patients (P = 0.027* and 0.038*, respectively). CATT*5/MIF-173*C haplotype occurred at a higher frequency in patients (odds ratio 3.03, 95% confidence intervals 1.09-8.47, P = 0.02). The mean serum MIF levels were significantly higher in patients as compared to controls (P < 0.001). The presence of either extended MIF -794*CATT repeats or C allele did not reveal any significant association with serum MIF levels or age at onset. Analysis of effect of various disease determinants revealed no significant association with genetic variants and serum MIF levels. LIMITATIONS: The lesional expression of MIF could not be studied. CONCLUSION: Our results showed that CATT*5/MIF-173*C haplotype is associated with increased susceptibility to psoriasis vulgaris.


Assuntos
Fatores Inibidores da Migração de Macrófagos , Psoríase , Humanos , Polimorfismo de Nucleotídeo Único/genética , Haplótipos , Estudos Transversais , Fatores Inibidores da Migração de Macrófagos/genética , Qualidade de Vida , Predisposição Genética para Doença/genética , Regiões Promotoras Genéticas , Estudos de Casos e Controles , Gravidade do Paciente , Psoríase/diagnóstico , Psoríase/epidemiologia , Psoríase/genética
3.
Lab Med ; 50(4): 357-363, 2019 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-30915470

RESUMO

BACKGROUND: The production of 2 monoclonal proteins characterizes biclonal gammopathic manifestations (BGMs). The available medical literature from India is chiefly restricted to case reports. OBJECTIVE: To study the incidence of BGMs in a tertiary care center in Chandigarh, India, during a 4-year period. We evaluated these cases further for their laboratory characteristics. METHODS: We scrutinized the contents of a database containing information from the studied 4-year period. Cases reported as BGMs on serum protein electrophoresis (SPEP) and confirmed by serum immunofixation electrophoresis (SIFE) were included. RESULTS: A total of 15 cases, from a cohort of 914 cases of monoclonal gammopathic manifestations (MGMs), were available. On SPEP, 2 M bands were observed in 12 cases. On SIFE, 4 cases were reported as being of true BGMs. The most common heavy-chain combination observed was immunoglobulin (Ig)A-IgG. Follow-up was available in 2 patients. CONCLUSION: Identification of BGMs increases diagnostic precision, despite that the treatment is similar to that for monoclonal gammopathic manifestations (MGMs). BGMs can be transitory and may be observed at presentation or during the disease course.


Assuntos
Paraproteinemias/epidemiologia , Paraproteinemias/patologia , Idoso , Idoso de 80 Anos ou mais , Eletroforese , Feminino , Humanos , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Incidência , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Centros de Atenção Terciária
4.
Indian J Dermatol Venereol Leprol ; 84(5): 573-577, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28656911

RESUMO

BACKGROUND: Erythema nodosum leprosum is an immune-mediated complication of leprosy which causes significant morbidity. Biomarkers in the pathogenesis of erythema nodosum leprosum are not yet fully determined. AIM: To determine macrophage migration inhibitory factor levels in the sera of leprosy patients with erythema nodosum leprosum and to correlate the same with clinical parameters. METHODS: This cross-sectional study included 37 consecutive leprosy patients with active erythema nodosum leprosum and 31 age- and sex-matched controls. Detailed clinical history and examination findings were recorded including the severity and frequency of erythema nodosum leprosum. Slit skin smears and histopathologic examination were done in all patients at baseline. Serum macrophage migration inhibitory factor levels were determined using an enzyme-linked immunosorbent assay. RESULTS: Most of our patients were males (78.4%) and suffering from lepromatous leprosy (27, 73%) with a mean initial bacillary index of 3.38 ± 1.36. Recurrent and chronic patterns of erythema nodosum leprosum were seen in 15 (40.5%) and 6 (16.3%) patients, respectively. Most (86.5%) of our patients presented with moderate to severe erythema nodosum leprosum. The mean serum macrophage migration inhibitory factor level was 21.86 ± 18.7 ng/ml among patients while it was 11.78 ± 8.4 ng/ml in the control group (P < 0.01). There were no statistically significant correlations of macrophage migration inhibitory factor levels with erythema nodosum leprosum frequency or severity. LIMITATION: Serum macrophage migration inhibitory factor levels in leprosy patients with no erythema nodosum leprosum and in patients with other inflammatory and autoimmune conditions were not assessed. Hence, this study falls short of providing the predictive value and specificity of higher macrophage migration inhibitory factor concentrations in serum as a biomarker of erythema nodosum leprosum. CONCLUSION: Macrophage migration inhibitory factor levels are elevated in erythema nodosum leprosum patients as compared to controls. A larger sample size and macrophage migration inhibitory factor gene polymorphism analysis will be needed to elucidate the role of this pro-inflammatory cytokine in erythema nodosum leprosum.


Assuntos
Eritema Nodoso/sangue , Eritema Nodoso/diagnóstico , Oxirredutases Intramoleculares/sangue , Hanseníase/sangue , Hanseníase/diagnóstico , Fatores Inibidores da Migração de Macrófagos/sangue , Adulto , Biomarcadores/sangue , Estudos Transversais , Eritema Nodoso/epidemiologia , Feminino , Humanos , Hanseníase/epidemiologia , Masculino , Pessoa de Meia-Idade
5.
Indian J Hematol Blood Transfus ; 32(Suppl 1): 184-8, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27408387

RESUMO

Various techniques of protein electrophoresis are used for detection of monoclonal proteins/paraproteins in serum and/or urine of patients with monoclonal gammopathies. These are detected as the so-called 'M' bands (monoclonal bands) on serum protein electrophoresis and/or immunofixation electrophoresis. In most cases, a single M-band is detected. However, more than one M-band can be detected in the samples of a minor proportion of patients. This condition is termed as 'double gammopathy' or 'biclonal gammopathy'. A knowledge of such an unusual occurrence is essential for recognition and appropriate interpretation of this entity.

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