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1.
Clin Exp Dermatol ; 44(6): 651-653, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30618159

RESUMO

Vulval basal cell carcinomas (BCCs) are rare, representing < 5% of vulval malignancies and 1% of all BCCs. They often present with nonspecific symptoms and features that lead to large, poorly circumscribed and late-presenting lesions. Current and conventional treatments used to treat vulval BCC include cryotherapy, imiquimod and excision. However, recurrence rates as high as 20% have been reported with these treatments. Furthermore, there are no current clinical guidelines for their management. We present the first reported series of patients with vulval BCC treated with Mohs micrographic surgery (MMS). We report seven cases of vulval BCC treated with MMS at a tertiary referral centre over 3 years. Follow-up was performed at 3 months and up to 3 years. Our series demonstrates that there were no postoperative complications, functional sequelae or recurrences up to the 3-year follow-up. We therefore recommend that MMS should be considered in the management of vulval BCCs.


Assuntos
Carcinoma Basocelular/patologia , Carcinoma Basocelular/cirurgia , Cirurgia de Mohs/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Basocelular/ultraestrutura , Feminino , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Resultado do Tratamento , Vulva/patologia , Vulva/cirurgia
2.
Parasitology ; 145(3): 292-306, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29140228

RESUMO

Immunoactivation depends upon the antigen potential to modulate T-cell repertoires. The present study has enumerated the effect of 61 kDa recombinant Leishmania donovani co-factor-independent phosphoglycerate mutase (rLd-iPGAM) on mononuclear cells of healthy and treated visceral leishmaniasis subjects as well as on THP-1 cell line. rLd-iPGAM stimulation induced higher expression of interleukin-1ß (IL-1ß) in the phagocytic cell, its receptor and CD69 on T-cell subsets. These cellular activations resulted in upregulation of host-protective cytokines IL-2, IL-12, IL-17, tumour necrosis factor-α and interferon-γ, and downregulation of IL-4, IL-10 and tumour growth factor-ß. This immune polarization was also evidenced by upregulation of nuclear factor-κ light-chain enhancer of activated B cells p50 and regulated expression of suppressor of mother against decapentaplegic protein-4. rLd-iPGAM stimulation also promoted lymphocyte proliferation and boosted the leishmaniacidal activity of macrophages by upregulating reactive oxygen species. It also induced 1·8-fold higher release of nitric oxide (NO) by promoting the transcription of inducible nitric oxide synthase gene. Besides, in silico analysis suggested the presence of major histocompatibility complex class I and II restricted epitopes, which can proficiently trigger CD8+ and CD4+ cells, respectively. This study reports rLd-iPGAM as an effective immunoprophylactic agent, which can be used in future vaccine design.


Assuntos
Epitopos de Linfócito T/imunologia , Leishmania donovani/enzimologia , Leishmania donovani/imunologia , Macrófagos/imunologia , Fosfoglicerato Mutase/imunologia , Proteínas Recombinantes/farmacologia , Linhagem Celular , Coenzimas/deficiência , Coenzimas/genética , Simulação por Computador , Citocinas/efeitos dos fármacos , Citocinas/imunologia , Epitopos de Linfócito T/efeitos dos fármacos , Genes MHC Classe I/imunologia , Genes MHC da Classe II/imunologia , Humanos , Interleucina-1beta/efeitos dos fármacos , Interleucina-1beta/imunologia , Leishmaniose Visceral/imunologia , Leucócitos Mononucleares/efeitos dos fármacos , Leucócitos Mononucleares/imunologia , Leucócitos Mononucleares/parasitologia , Ativação Linfocitária/efeitos dos fármacos , Macrófagos/parasitologia , Subunidade p50 de NF-kappa B/efeitos dos fármacos , Subunidade p50 de NF-kappa B/genética , Óxido Nítrico , Óxido Nítrico Sintase Tipo II/efeitos dos fármacos , Fosfoglicerato Mutase/genética , Fosfoglicerato Mutase/farmacologia , Proteínas Recombinantes/genética , Proteínas Recombinantes/imunologia , Células Th1
3.
Clin Exp Dermatol ; 43(4): 454-457, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29396855

RESUMO

For squamous cell carcinoma (SCC) treated using Mohs micrographic surgery (MMS), interpretation of haematoxylin and eosin-stained frozen sections can be challenging. In these situations, ancillary use of immunostaining is a useful tool for the Mohs surgeon. However, use of immunostaining in MMS laboratories is limited, mainly because current manual immunostaining platforms are subject to operator error, and automated immunostaining, albeit accurate, is too slow for inclusion in MMS. In this report, we describe a novel 1-hour protocol for rapid frozen section immunocytochemistry, using the pancytokeratin markers AE1/AE3. This protocol has been specifically designed to integrate the speed of manual techniques and the accuracy of automated platforms, making it a valuable addition to the MMS laboratory. We propose that in selected or histologically challenging cases, there is a role for the use of this novel protocol, allowing the Mohs surgeon to more confidently declare tumour clearance, thus preventing further unnecessary surgery and preserving healthy tissue.


Assuntos
Carcinoma de Células Escamosas/patologia , Secções Congeladas/métodos , Imuno-Histoquímica/métodos , Cirurgia de Mohs/métodos , Neoplasias Cutâneas/patologia , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Carcinoma de Células Escamosas/cirurgia , Humanos , Queratinas/análise , Masculino
4.
Br J Dermatol ; 172(3): 729-38, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25272088

RESUMO

BACKGROUND: Pemphigus vulgaris (PV) is a potentially fatal autoimmune blistering skin disease. It is known that individuals with autoimmune diseases such as PV, as well as their family members, are at increased risk of developing other autoimmune diseases. However, it is unknown whether there are specific autoimmune diseases that cluster with PV. OBJECTIVES: To investigate the frequency of coexisting autoimmune diseases in patients with PV and their relatives, to determine the prevalence of specific autoimmune diseases in patients with PV vs. the general population and to identify statistically significant clinical clusters linking PV with other autoimmune disorders. METHODS: We performed a cross-sectional study and meta-analysis of patient data from our own patient database (n = 230), an anonymous online survey conducted by our laboratory (n = 171) and the International Pemphigus & Pemphigoid Foundation registry (n = 393). RESULTS: We found that the prevalences of autoimmune thyroid disease (AITD), rheumatoid arthritis and type 1 diabetes were significantly increased in patients with PV compared with the general population. These diseases were also among the most frequent in family members of patients with PV, in addition to systemic lupus erythematosus (SLE). Descriptive cluster analysis using basic principle components methods revealed that PV forms a distinct cluster with AITD, rheumatoid arthritis and type 1 diabetes, and another cluster with SLE, AITD and rheumatoid arthritis. CONCLUSIONS: PV belongs to an established autoimmune disease cluster that includes AITD, rheumatoid arthritis and type 1 diabetes. Our data suggest the possibility of common genetic elements across clinically distinct diseases that might underlie autoimmune susceptibility.


Assuntos
Artrite Reumatoide/complicações , Diabetes Mellitus Tipo 1/complicações , Pênfigo/complicações , Doenças da Glândula Tireoide/complicações , Doenças Autoimunes/complicações , Análise por Conglomerados , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fatores de Risco
8.
Genes Immun ; 14(8): 487-99, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23985570

RESUMO

To evaluate pathogenetic mechanisms underlying disease development and progression in the autoimmune skin disease Pemphigus vulgaris (PV), we examined global peripheral blood gene expression in patients and healthy controls. Our goals were to: (1) assign blood gene expression signatures to patients and controls; (2) identify differentially expressed genes (DEGs) and investigate functional pathways associated with these signatures; and (3) evaluate the distribution of DEGs across the genome to identify transcriptional 'hot spots'. Unbiased hierarchical clustering clearly separated patients from human leukocyte antigen (HLA)-matched controls (MCRs; 'disease' signature), and active from remittent patients ('activity' signature). DEGs associated with these signatures are involved in immune response, cytoskeletal reorganization, mitogen-activated protein kinase (MAPK) signaling, oxidation-reduction and apoptosis. We further found that MCRs carrying the PV-associated HLA risk alleles cluster distinctly from unmatched controls (UMCR) revealing an HLA-associated 'control' signature. A subset of DEGs within the 'control' signature overlap with the 'disease' signature, but are inversely regulated in MCR when compared with either PV patients or UMCR, suggesting the existence of a 'protection' signature in healthy individuals carrying the PV HLA genetic risk elements. Finally, we identified 19 transcriptional 'hot spots' across the signatures, which may guide future studies aimed at pinpointing disease risk genes.


Assuntos
Genoma Humano , Pênfigo/genética , Transcriptoma , Adulto , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Antígenos HLA/genética , Humanos , Masculino , Pessoa de Meia-Idade , Pênfigo/diagnóstico
9.
IEEE Trans Nanobioscience ; 21(1): 65-74, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34516379

RESUMO

BACKGROUND: Fluctuation in serotonin (5-HT) level is an essential manifestation of several neurological disorders. In view of such importance, it is necessary to monitor the levels of 5-HT with good sensitivity, selectivity, affordability and low response time. Zinc oxide (ZnO) based field effect transistors (FET) with attributes like minimized noise levels and large on-off ratio are regarded as emerging high performance biosensor platforms. However, their response is significantly non-linear and there has been no appreciable endeavor for improving the non-linearity. METHOD: In this paper, we have introduced embedded gate electrode encompassing the channel of the FET which improves the uniformity in electric field line distribution through the electrolyte and proportionately enhances the capture of target biomolecule at ultra-low concentrations, thereby increasing the linearity. Further, we have incorporated the optimized parameters of ZnO nanorods reported previously, for rapid and selective detection of 5-HT. RESULTS: It has been observed that the fabricated ZnO FET biosensor lowers the detection limit down to 0.1fM which is at least one order of magnitude lower than the existing reports. The sensor also has wide linear range from 0.1fM to 1nM with a detection time of about 20 minutes. CONCLUSION: The proposed zinc oxide nanorod-based sensor can be used as an excellent tool for future diagnosis of neurological disorders.


Assuntos
Técnicas Biossensoriais , Nanotubos , Óxido de Zinco , Eletrodos , Serotonina
10.
Genes Immun ; 11(7): 531-41, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20535136

RESUMO

Alopecia areata (AA) is an autoimmune hair loss disorder in which systemic disturbances have been described, but are poorly understood. To evaluate disease mechanisms, we examined gene expression in the blood of defined clinical subgroups (patchy AA persistent type, AAP, n=5; alopecia universalis, AU, n=4) and healthy controls (unaffected relatives, UaR, n=5; unaffected non-relatives, UaNR, n=4) using microarrays. Unsupervised hierarchical clustering separates all four patient and control groups, producing three distinct expression patterns reflective of 'inheritance', 'disease' and 'severity' signatures. Functional classification of differentially expressed genes (DEGs) comparing disease (AAP, AU) vs normal (UaR) groups reveals upregulation in immune response, cytokine signaling, signal transduction, cell cycle, proteolysis and cell adhesion-related genes. Pathway analysis further reveals the activation of several genes related to natural killer-cell cytotoxicity, apoptosis, mitogen activated protein kinase, Wnt signaling and B- and T-cell receptor signaling in AA patients. Finally, 35 genes differentially expressed in AA blood overlap with DEGs previously identified in AA skin lesions. Our results implicate innate and adaptive immune processes while also revealing novel pathways, such as Wnt signaling and apoptosis, relevant to AA pathogenesis. Our data suggest that peripheral blood expression profiles of AA patients likely carry new biomarkers associated with disease susceptibility and expression.


Assuntos
Alopecia em Áreas/genética , Expressão Gênica , Adulto , Idoso , Alopecia em Áreas/imunologia , Alopecia em Áreas/patologia , Estudos de Casos e Controles , Feminino , Humanos , Células Matadoras Naturais/imunologia , Células Matadoras Naturais/metabolismo , Células Matadoras Naturais/patologia , Masculino , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos , Transdução de Sinais/genética , Transdução de Sinais/imunologia
11.
Clin Neurol Neurosurg ; 195: 106061, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32682204

RESUMO

OBJECTIVES: Hyperglycemia is common in acute ischemic stroke patients and is associated with poor clinical outcome. However, aggressive reduction of post-stroke hyperglycemia did not improve clinical outcome, suggesting that other mechanisms are playing a detrimental role in hyperglycemic stroke. We hypothesize that the acute post-stroke immune response is altered in the hyperglycemic state leading to higher mortality and morbidity. The objective of this study was to characterize temporal changes in circulating immune cells after stroke and their association with clinical outcomes in hyperglycemic compared to euglycemic patients. PATIENTS AND METHODS: This retrospective study included 97 (58 % euglycemic, 42 % hyperglycemic) patients presenting within 12 h of symptom onset of stroke. Blood neutrophil, monocyte and lymphocyte concentrations were measured sequentially for 96 h post stroke. Primary clinical outcome was the difference in the NIH stroke scale at admission compared to discharge. Secondary outcome measures included discharge disposition and the modified Rankin Scale (mRS) at 90 days. RESULTS: Circulating neutrophils were significantly higher in hyperglycemic than in euglycemic patients within the first 48 h post stroke, while lymphocyte counts trended to be lower. Hyperglycemic patients had higher mortality rates, less favorable discharge disposition and worse neurological function at 90 days. In both groups, the neutrophil to lymphocytes ratio ((NLR) remained strongly associated with neurological function at discharge within the first 24 h (p < 0.001), and remained significant in hyperglycemic patients up to 48 h (p < 0.001). Multivariate regression analysis showed no confounding by other factors and a significant correlation with differences in NIHSS score (CI; - 9.287 to -1.46, p = 0.0077**) and NLR (CL; 0.6058-6.901, p = 0.0203*) in hyperglycemic patients. CONCLUSIONS: Our data suggests that circulating immune cells play an important role in mediating poor clinical outcome in hyperglycemic patients following stroke. The NLR is a strong predictor of neurological outcomes in hyperglycemic patients. Thus, the modulation of immune cells may be a viable therapeutic approach to improve outcomes for this high risk group.


Assuntos
Hiperglicemia/diagnóstico , AVC Isquêmico/diagnóstico , Linfócitos/imunologia , Monócitos/imunologia , Neutrófilos/imunologia , Recuperação de Função Fisiológica/fisiologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Hiperglicemia/sangue , Hiperglicemia/imunologia , AVC Isquêmico/sangue , AVC Isquêmico/imunologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Índice de Gravidade de Doença
12.
J Viral Hepat ; 16(9): 666-73, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19245384

RESUMO

Homeless adults are at high risk for hepatitis B virus (HBV) infection. In addition to culturally sensitive programmes designed to enhance vaccination compliance, accelerated HBV vaccination (three doses over 21 days) have also been suggested to improve compliance among high-risk groups. In this paper, we examined predictors of completers of two of three doses of a HAV/HBV vaccine series, normally delivered over a 6-month period, to simulate compliance with an accelerated series, dosed over 4 weeks. A convenience sample of 865 homeless adults was randomized into a nurse case-managed approach (NCMIT) vs standard programmes with (SIT) and without tracking (SI). Each group was assessed for completion of two of the three dose HAV/HBV vaccine series as well as the full three dose vaccine series. Sixty-eight percent of the NCMIT participants completed the three dose vaccination series at 6 months compared to 61% of SIT participants and 54% of SI participants. Eighty-one percent of the NCMIT participants completed two of the vaccinations compared to 78% of SIT participants and 73% of SI participants. The NCMIT approach resulted in greater numbers of completers of two of three doses and of the full three dose vaccine series. Predictors of completers of two doses and the full three dose vaccine series are provided. A greater number of homeless persons completed two doses across the three groups compared to the three dose vaccine series. The use of nurse case-management and tracking, coupled with an accelerated HAV/HBV vaccination schedule, may optimize vaccination compliance in homeless adults.


Assuntos
Vacinas contra Hepatite A/administração & dosagem , Hepatite A/prevenção & controle , Vacinas contra Hepatite B/administração & dosagem , Hepatite B/prevenção & controle , Pessoas Mal Alojadas , Cooperação do Paciente/estatística & dados numéricos , Vacinação/métodos , Adulto , Idoso , Simulação por Computador , Feminino , Humanos , Los Angeles , Masculino , Pessoa de Meia-Idade , Distribuição Aleatória , Fatores de Tempo , Adulto Jovem
13.
Cancer Res ; 66(11): 5633-40, 2006 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-16740700

RESUMO

Photodynamic therapy (PDT) is now an approved therapeutic modality, and induction of vascular endothelial growth factor (VEGF) following subcurative PDT is of concern as VEGF may provide a survival stimulus to tumors. The processes that limit the efficacy of PDT warrant investigation so that mechanism-based interventions may be developed. This study investigates VEGF increase following subcurative PDT using the photosensitizer benzoporphyrin derivative (BPD) both in an in vitro and in an orthotopic model of prostate cancer using the human prostate cancer cell line LNCaP. The two subcurative doses used, 0.25 and 0.5 J/cm(2), mimicked subcurative PDT and elicited a 1.6- and 2.1-fold increase, respectively, in secreted VEGF 24 hours following PDT. Intracellular VEGF protein measurement and VEGF mRNA showed a 1.4- and 1.6-fold increase only at 0.5 J/cm(2). In vivo subcurative PDT showed an increase in VEGF by both immunohistochemistry and ELISA. In vitro analysis showed no activation of hypoxia-inducible factor-1alpha (HIF-1alpha) or cyclooxygenase-2 (COX-2) following subcurative PDT; furthermore, small interfering RNA inhibition of HIF-1alpha and COX-2 inhibitor treatment had no effect on PDT induction of VEGF. PDT in the presence of phosphatidylinositol 3-kinase/AKT inhibitor or mitogen-activated protein kinase (MAPK)/extracellular signal-regulated kinase inhibitor still induced VEGF. However, subcurative PDT increased phosphorylated p38 and stress-activated protein kinase/c-Jun NH(2)-terminal kinase. The p38 MAPK inhibitor abolished PDT induction of VEGF. The results establish the importance of VEGF in subcurative BPD-PDT of prostate cancer and suggest possible molecular pathways for its induction. These findings should provide the basis for the development of molecular-based interventions for enhancing PDT and merit further studies.


Assuntos
Fotoquimioterapia/métodos , Neoplasias da Próstata/tratamento farmacológico , Neoplasias da Próstata/metabolismo , Fator A de Crescimento do Endotélio Vascular/biossíntese , Animais , Linhagem Celular Tumoral , Ciclo-Oxigenase 2/metabolismo , Inibidores de Ciclo-Oxigenase 2/farmacologia , Humanos , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Sistema de Sinalização das MAP Quinases/efeitos dos fármacos , Masculino , Camundongos , Camundongos SCID , Fármacos Fotossensibilizantes/farmacologia , Porfirinas/farmacologia , Neoplasias da Próstata/genética , RNA Mensageiro/biossíntese , RNA Mensageiro/genética , Fator A de Crescimento do Endotélio Vascular/genética , Fator A de Crescimento do Endotélio Vascular/metabolismo , Ensaios Antitumorais Modelo de Xenoenxerto
14.
15.
Indian Heart J ; 70(5): 736-744, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30392515

RESUMO

In the year 2016, European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) guidelines provided recommendations on dyslipidemia management. The recommendation from these guidelines are restricted to European subcontinent. To adapt the updated recommendations for Indian subset of dyslipidemia, a panel of experts in management of dyslipidemia provided their expert opinions. This document provides expert consensus on adapting 2016 ESC dyslipidemia guidelines recommendations in Indian setting. The document also discussed India-specific relevant literature to support the consensus opinions provided in management of dyslipidemia.


Assuntos
Aterosclerose , Cardiologia , Consenso , Fidelidade a Diretrizes , Hipolipemiantes/uso terapêutico , Lipídeos/sangue , Sociedades Médicas , Aterosclerose/sangue , Aterosclerose/tratamento farmacológico , Aterosclerose/epidemiologia , Europa (Continente)/epidemiologia , Humanos , Índia/epidemiologia , Morbidade/tendências
16.
J Food Prot ; 69(6): 1463-7, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16786876

RESUMO

In a multicenter study conducted by the Indian Council of Medical Research, 1,646 samples of wheat grain collected from rural and urban areas of 10 states representing different geographical regions of India were analyzed for aflatoxin B1 (AFB1). AFB1 concentrations of > or = 5 microg kg(-1) were recorded in 40.3% of the samples, and concentrations above the Indian permissible regulatory limit of 30 microg kg(-1) were found in 16% of the samples. The proportion of samples with AFB1 concentrations above the Indian regulatory limit ranged from 1.7 to 55.8% in different states, with the minimum in Haryana and the maximum in Orissa. The variation in wheat contamination among states seems to be mainly the result of unsatisfactory storage conditions. Median AFB1 concentrations of 11, 18, and 32 microg kg(-1) were observed in samples from Uttar Pradesh, Assam, and Orissa, respectively; concentrations in other states were <5 microg kg(-1). The maximum AFB1 concentration of 606 microg kg(-1) was observed in a sample from the state of Uttar Pradesh. The calculated probable daily intakes of AFB1 through consumption of contaminated wheat for the population in some states were much higher than the suggested provisional maximum tolerable daily intake. Human health hazards associated with such AFB1 exposure over time cannot be ruled out.


Assuntos
Aflatoxina B1/isolamento & purificação , Qualidade de Produtos para o Consumidor , Contaminação de Alimentos/análise , Manipulação de Alimentos/métodos , Venenos/isolamento & purificação , Triticum/química , Aflatoxina B1/análise , Microbiologia de Alimentos , Humanos , Incidência , Índia , Concentração Máxima Permitida , Venenos/análise , Triticum/microbiologia
17.
Autoimmunity ; 48(4): 231-41, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25384535

RESUMO

With their near-universal presence in patients and ease of clinical measurement, anti-desmoglein (Dsg) antibodies serve as primary candidates for creating prognostic tools in Pemphigus vulgaris (PV). Although the desmoglein compensation hypothesis postulates a clear relationship between anti-Dsg autoantibodies and clinical phenotype in PV, recent studies have questioned the fidelity of this hypothesis as a predictor of lesion morphology. Moreover, few studies address the association of anti-Dsg antibodies to other clinical parameters such as disease phase and age at onset. Using the largest patient repository to date in PV, we present a detailed analysis of anti-desmoglein antibody profiles across a comprehensive range of dynamic (disease phase, therapy, lesion morphology) and temporal (disease duration, age at sampling, age at onset) clinical parameters. Our data highlight the non-traditional but key role of anti-Dsg1 levels in tracking disease activity. We show that declining anti-Dsg1 levels may predict progression from active phase to early remission and long-term maintenance of remission, regardless of lesion morphology. In contrast, many remittent patients have elevated levels of anti-Dsg3 without lesional activity. Furthermore, we describe a unique subset of remittent patients that develop chronic transient lesions (lasting <1 week) in the setting of elevated anti-Dsg3 levels but do not meet the consensus criteria for active phase. Re-classification of patients with transient lesions as "active" may shed new light on pathophysiological processes underlying cycles of blister formation and rapid spontaneous healing in PV. Additionally, we provide evidence for the potential attenuation of the immune response with prolonged disease duration. Our data fit into the broader effort of immunoprofiling to promote data-informed decision-making regarding diagnosis, prognosis and treatment of complex diseases.


Assuntos
Autoanticorpos/imunologia , Desmogleínas/imunologia , Pênfigo/imunologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Autoanticorpos/sangue , Autoantígenos/imunologia , Estudos de Casos e Controles , Desmogleína 1/imunologia , Desmogleína 3/imunologia , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pênfigo/sangue , Pênfigo/diagnóstico , Prognóstico , Adulto Jovem
18.
Hum Mutat ; 16(4): 372, 2000 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11013451

RESUMO

We have studied the CTG repeat sizes in the DMPK gene and six biallelic markers which are in complete linkage disequlibrium with Caucasian DM patients, to identify any common founder haplotype in 30 clinically diagnosed unrelated DM patients from eastern India. Our results revealed that in 27 patients (90%), CTG expansion took place on a DraIII(-) - HhaI(-) - Alu(+) - HinfI(+) - Fnu4H I(-) - TaqI(+) haplotype (haplotype I), similar to what have been published for Caucasoid and other DM patients. However, in three patients (10%), the expansion of CTG repeat was on DraIII(+) - HhaI(+) - Alu(+) - HinfI(-) - Fnu4H I(+) - TaqI(-) background (haplotype II), indicating a new haplotype. The distribution of haplotypes in 52 normal individuals of eastern India revealed that percentage of haplotypes I and II were 23.1% and 7.7% respectively in normal chromosomes. Haplotype II is absent among Caucasian DM patients as well as normal individuals indicating that this particular haplotype may be characteristic of the Indian population. Hum Mutat 16:372, 2000.


Assuntos
Distrofia Miotônica/enzimologia , Distrofia Miotônica/genética , Proteínas Quinases/genética , Proteínas Serina-Treonina Quinases , Expansão das Repetições de Trinucleotídeos/genética , Adolescente , Adulto , Alelos , Feminino , Haplótipos/genética , Humanos , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Distrofia Miotônica/epidemiologia , Miotonina Proteína Quinase
19.
Eur J Hum Genet ; 8(9): 678-82, 2000 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10980573

RESUMO

We have analysed the distribution of CAG and adjacent polymorphic CCG repeats in the Huntingtin gene in 28 clinically diagnosed unrelated Huntington's disease (HD) patients and in normal individuals belonging to different ethnic groups of India. The range of expanded CAG repeats in HD patients varied from 41 to 56 repeats, whereas in normal individuals this number varied between 11 and 31 repeats. We identified six CCG alleles from a total of 380 normal chromosomes that were pooled across different ethnic populations of India. There were two predominant alleles: (CCG)7 (72.6%) and (CCG)10 (20%). We report here for the first time one four-repeat CCG allele which has not been found in any population so far. We found 30 haplotypes (two loci CAG-CCG) for 380 normal chromosomes. In the present study, no statistically significant preponderance of expanded HD alleles was found on either (CCG)7 or (CCG)10 backgrounds. Our studies suggest that the overall prevalence of HD in Indian populations may not be as high as in Western populations. Further studies are necessary to identify the origin of HD mutation in these populations.


Assuntos
Doença de Huntington/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Expansão das Repetições de Trinucleotídeos/genética , Adolescente , Adulto , Idoso , Alelos , Etnicidade/genética , Etnicidade/estatística & dados numéricos , Feminino , Haplótipos , Humanos , Proteína Huntingtina , Doença de Huntington/sangue , Doença de Huntington/epidemiologia , Doença de Huntington/etnologia , Índia/epidemiologia , Índia/etnologia , Masculino , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/sangue , Proteínas Nucleares/sangue , Polimorfismo Genético/genética , Análise de Sequência de DNA
20.
Mol Biochem Parasitol ; 65(1): 171-7, 1994 May.
Artigo em Inglês | MEDLINE | ID: mdl-7935623

RESUMO

We describe the deduced amino acid sequence for a gene encoding a high molecular mass rhoptry protein of Plasmodium yoelii. The sequence was obtained from an EcoRI genomic clone that overlaps a short DraI fragment isolated previously. The open reading frame consists of 2294 codons and putative hydrophobic signal and membrane anchor sequences were identified. Similarity with sequence from a clone coding for part of a Plasmodium vivax reticulocyte-binding protein was noted. Based on the sequence and location of the protein and the biological properties of antibodies that react with it, we propose that this may be an erythrocyte-binding protein.


Assuntos
Genes de Protozoários , Plasmodium yoelii/genética , Proteínas de Protozoários/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Clonagem Molecular , Sondas de DNA/genética , DNA de Protozoário/genética , Proteínas de Membrana/genética , Dados de Sequência Molecular , Peso Molecular , Família Multigênica , Fases de Leitura Aberta , Plasmodium vivax/genética , Estrutura Secundária de Proteína , Proteínas de Protozoários/química , Homologia de Sequência de Aminoácidos
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