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1.
BMC Res Notes ; 11(1): 783, 2018 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-30384859

RESUMO

OBJECTIVE: In view of the discrepant data regarding the association between the protein tyrosine phosphatase non-receptor 22 (PTPN22) rs2476601 (R620W, 1858C→T) polymorphism and susceptibility to autoimmune diseases including inflammatory bowel diseases (IBD), we investigated whether this functional single-nucleotide polymorphism influences IBD risk in a group of Moroccan patients. RESULTS: This is the first report on the prevalence of PTPN22 (R620W) variant in a Moroccan cohort. No evidence of statistically significant differences was observed when the PTPN22 (R620W) allele and genotype distribution among IBD, Crohn's disease (CD), ulcerative colitis (UC) patients and healthy controls were compared. The frequency of the variant allele in healthy subjects was 1.77% compared to 2.56% in the IBD patients and 1.85% in CD patients. Furthermore, the frequency of this allele was increased in UC patients compared to controls (4.17% vs. 1.77%, OR = 2.42, 95% CI 0.82-7.08; P = 0.09), but the difference was not statistically significant. Our data suggest a lack of association between PTPN22 R620W variant and IBD susceptibility in Moroccan patients.

2.
World J Gastroenterol ; 23(47): 8300-8307, 2017 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-29307990

RESUMO

AIM: To investigate whether common variants in the oxidative pathway genes influence inflammatory bowel disease (IBD) risk among Moroccan patients. METHODS: The distribution of (TAAA)n_rs12720460 and (CCTTT)n _rs3833912 NOS2A microsatellite repeats, HIF-1A_rs11549467 and NFKB1-94ins/delATTG_rs28362491 was analyzed in 507 subjects grouped in 199 IBD and 308 healthy controls. Genotyping was performed with polymerase chain reaction-fluorescent method and the TaqMan® allelic discrimination technology. RESULTS: The allele and genotype frequencies of HIF1A_ rs11549467, NFKB1_rs28362491 and NOS2A_ (TAAA)n did not differ significantly between patients and controls. Analysis of NOS2A_ (CCTTT)n markers evidenced differences between patients and healthy controls. A preferential presence of the (CCTTT)8 (P = 0.02; OR = 1.71, 95%CI: 1.07-2.74), (CCTTT)14 (P = 0.02; OR = 1.71, 95%CI: 1.06-2.76) alleles in IBD, (CCTTT)8 (P = 0.008; OR = 1.95, 95%CI: 1.17-3.23) in CD and (CCTTT)7 (P = 0.009; OR = 7.61, 95%CI: 1.25-46.08), (CCTTT)11 (P = 0.05; OR = 0.51, 95%CI: 0.25-1.01), (CCTTT)14 (P = 0.02; OR = 2.05, 95%CI: 1.07-3.94), (CCTTT)15 (P = 0.01; OR = 2.25, 95%CI: 1.16-4.35) repeats in UC patients indicated its possible association with higher disease risk which need to be confirmed in a larger sample size. CONCLUSION: Our results suggest that the NOS2A_ (CCTTT)n gene variations may influence IBD susceptibility in the Moroccan population.


Assuntos
Predisposição Genética para Doença , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Doenças Inflamatórias Intestinais/genética , Subunidade p50 de NF-kappa B/genética , Óxido Nítrico Sintase Tipo II/genética , Estresse Oxidativo/genética , Adolescente , Adulto , Alelos , Feminino , Haplótipos , Humanos , Masculino , Repetições de Microssatélites/genética , Marrocos , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Adulto Jovem
3.
Cuad. psiquiatr. psicoter. niño adolesc ; (60): 33-38, jul.-dic. 2015.
Artigo em Espanhol | IBECS | ID: ibc-158131

RESUMO

Se presenta una experiencia de grupo con adolescentes y jóvenes con medidas de privación de libertad después de que en el procedimiento judicial se detectó patología mental que motivó que la medida fuera de internamiento. Se trataba de jóvenes con gran tendencia a la actuación, impulsividad, organizaciones predominantemente limítrofes y con importantes aspectos psicopáticos en algunos casos. Esta experiencia ofrecía un ámbito más neutral dentro de la institución, lo que permitía mayor expresión y pensamiento sobre la experiencia que estaban viviendo, ayudar a tramitar las ansiedades de forma que contribuía a crear diferenciaciones en el espacio terapéutico global del módulo. La sesión de grupo se mostró como uno de los instrumentos más útiles en fomentar la apropiación por los pacientes de una cultura de cuidados frente a la de sanción, conseguir la alianza terapéutica, así como propiciar la toma de conciencia de sus dificultades y problemas emocionales de fondo (AU)


We present a group experience with juvenile offenders in restricted freedom, after that mental pathologies were detected meanwhile the judicial procedure, which favoured the confinement in therapeutic milieu. We are talking about impulsive youngs, with borderline personality, and remarkable psicopathic aspects in some cases. This experience offered a more neutral space within the institution, which allowed them more freedom of speech and though about the vital experiences they had lived, and helping them manage their anxiety and stablishing differentations in the therapeutic space of the unit. The group showed itself to be one of the most useful tools in order to foment the recivement of a caring culture rather tan a sanctioning one by the patients. Achieving a therapeutic alliance, as well as making them take account of their difficulties and emotional problems (AU)


Assuntos
Humanos , Masculino , Feminino , Adolescente , Comportamento do Adolescente/psicologia , Psicologia do Adolescente/métodos , Psicologia do Adolescente/tendências , Prisões/legislação & jurisprudência , Prisões/organização & administração , Psicoterapia de Grupo/métodos , Psicopatologia/métodos , Psicopatologia/tendências , Delinquência Juvenil/legislação & jurisprudência , Delinquência Juvenil/prevenção & controle , Delinquência Juvenil/psicologia
5.
J Rheumatol ; 39(6): 1275-9, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22589256

RESUMO

OBJECTIVE: We evaluated whether a single-nucleotide polymorphism (SNP) of the TRAF6 gene previously associated with systemic lupus erythematosus and rheumatoid arthritis may be a common risk factor for systemic sclerosis (SSc) and giant cell arteritis (GCA). METHODS: A total of 1185 patients with SSc, 479 patients with biopsy-proven GCA, and 1442 unrelated healthy controls of white Spanish origin were genotyped for the rs540386 variant using a specifically designed TaqMan(©) allele discrimination assay. RESULTS: No significant associations of this SNP with global SSc or GCA were found. This was also the case when the potential associations of the TRAF6 polymorphism with the main clinical phenotypes of the 2 diseases (e.g., limited cutaneous and diffuse cutaneous SSc, or presence of polymyalgia rheumatica and visual ischemic manifestations in GCA) were assessed. CONCLUSION: Our data do not support a role of the rs540386 TRAF6 variant as a key component of the genetic network underlying SSc and GCA.


Assuntos
Doenças Autoimunes/genética , Predisposição Genética para Doença , Arterite de Células Gigantes/genética , Polimorfismo de Nucleotídeo Único , Esclerodermia Difusa/genética , Esclerodermia Limitada/genética , Fator 6 Associado a Receptor de TNF/genética , Doenças Autoimunes/diagnóstico , Análise Mutacional de DNA , Feminino , Frequência do Gene , Genótipo , Arterite de Células Gigantes/diagnóstico , Arterite de Células Gigantes/imunologia , Humanos , Masculino , Fatores de Risco , Esclerodermia Difusa/diagnóstico , Esclerodermia Difusa/imunologia , Esclerodermia Limitada/diagnóstico , Esclerodermia Limitada/imunologia
6.
Clin Exp Rheumatol ; 30(1 Suppl 70): S29-33, 2012 Jan-Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22512842

RESUMO

OBJECTIVES: CD226 genetic variants have been associated with a number of autoimmune diseases. The aim of this study was to investigate the potential implication of the CD226 loci in the susceptibility to and main clinical manifestations of giant cell arteritis (GCA). METHODS: A Spanish Caucasian cohort of 455 patients diagnosed with biopsy-proven GCA and 1414 healthy controls were included in the study. Three CD226 polymorphisms, rs727088, rs34794968 and rs763361, were genotyped using the TaqMan® allelic discrimination technology. PLINK software was used for the statistical analyses. RESULTS: No significant association between the CD226 polymorphisms and susceptibility to GCA was found (rs727088: p=0.92, OR=1.01, CI 95% 0.86-1.18; rs34794968: p=0.61, OR=1.04, CI 95% 0.89-1.22; rs763361: p=0.88, OR=0.99, CI 95% 0.84-1.16). Similarly, when patients were stratified according to the specific clinical features of GCA such as polymyalgia rheumatica, visual ischaemic manifestations or irreversible occlusive disease, no association was observed either between the case subgroups and the control set or between GCA patients with and without the specific features of the disease. Furthermore, the haplotype analysis revealed no significant association with the clinical manifestations of the disease. CONCLUSIONS: Our results show that the three CD226 polymorphisms analysed do not play a relevant role in the susceptibility to GCA and clinical manifestations of this vasculitis.


Assuntos
Antígenos de Diferenciação de Linfócitos T/genética , Autoimunidade/genética , Arterite de Células Gigantes/genética , Polimorfismo de Nucleotídeo Único , Idoso , Biópsia , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Feminino , Frequência do Gene , Testes Genéticos , Arterite de Células Gigantes/epidemiologia , Arterite de Células Gigantes/imunologia , Arterite de Células Gigantes/patologia , Haplótipos , Humanos , Masculino , Razão de Chances , Fenótipo , Reação em Cadeia da Polimerase em Tempo Real , Medição de Risco , Fatores de Risco , Espanha/epidemiologia
7.
J Rheumatol ; 38(12): 2598-601, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21965647

RESUMO

OBJECTIVE: To investigate whether a functional integrin alpha M (ITGAM) variant is involved in susceptibility to and clinical manifestations of giant cell arteritis (GCA). METHODS: A Spanish cohort of 437 white patients with biopsy-proven GCA and 1388 healthy controls were genotyped using the TaqMan allele discrimination technology. RESULTS: No association was observed between ITGAM rs1143679 and GCA (p = 0.80, OR 0.97). Similarly, subphenotype analyses did not yield significant differences between the case subgroups and the control set or between GCA patients with or without the main specific features of GCA. CONCLUSION: Our results suggest that the ITGAM rs1143679 variant does not play an important role in the pathophysiology of GCA.


Assuntos
Antígeno CD11b/genética , Predisposição Genética para Doença , Arterite de Células Gigantes/genética , Arterite de Células Gigantes/patologia , Polimorfismo Genético , Idoso , Biópsia , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Espanha
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