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1.
J Homosex ; 69(1): 132-144, 2022 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-32845221

RESUMO

Body dysmorphic disorder (BDD) is a relatively common psychiatric condition of which the prevalence has not been fully investigated in the non-clinical population, and in particular among men having sex with men (MSM). MSM have proven to be more inclined to develop body dissatisfaction and body image disorders compared to non-MSM. Our study investigates the prevalence of BDD and the prevalence and co-occurrence of muscle dysmorphia (MD) and penile dysmorphic disorder (PDD) in a sample of 261 Italian MSM recruited online. From our data, gathered through self-report measures, the prevalence of BDD, MD, and PDD in our populations was 5.4%, 8.8%, and 4.2%, respectively. Compared to their elders, younger adults (ages 18-34) appear to be at higher risk of BDD and especially of MD. Non-significant differences have been observed for the prevalence of PDD depending on the age range. Our study shows that the risk of body image disorders among MSM is quite common, especially among young adults, and higher than what is found among heterosexual men.


Assuntos
Transtornos Dismórficos Corporais , Minorias Sexuais e de Gênero , Adolescente , Adulto , Idoso , Transtornos Dismórficos Corporais/epidemiologia , Homossexualidade Masculina , Humanos , Masculino , Prevalência , Autorrelato , Adulto Jovem
2.
J Child Adolesc Trauma ; 14(1): 51-60, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33708282

RESUMO

Female adolescents are particularly at risk of body image concerns. These individuals tend to make greater use of Social Networks and this could lead adolescents into behaviors that increase the risk of online sexual victimization (OSV). This cross-sectional study seeks to investigate the relation between body image concerns and OSV in a sample of female adolescents (n = 229) and the mediating role of three types of risky online behaviors in this link. Body image concerns predict OSV both directly and indirectly. Two of the three risky online behaviors proved to be mediators of the indirect link, namely: indiscriminate expansion of online network of contacts; and willingness to have relationships with strangers met online. Surprisingly, the third behavior, Sexting and Exhibitionism, was not shown to be a mediating factor between body image concerns and OSV. From our results emerges that adolescent girls with a negative body perception have a higher risk of OSV, and the relation between the two variables can be mediated by some risky online behaviors. It is likely that female adolescents use SNs more and adopt risky online behaviors in order to receive gratification and reassurance about their negative body image.

5.
Addict Behav ; 106: 106364, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32145495

RESUMO

Fear of missing out (FoMO) is known to be associated with a decrease in emotional well-being in adolescents. However, few studies have investigated the possible mediating factors between FoMO and emotional symptoms. In this study, we studied the relationship between FoMO and emotional symptoms in a sample of 472 Italian adolescents aged 11-19. In particular, the study investigated the possible mediating role of perceived stress associated with experiences of neglect and negative reactions by other social media users, and social media addiction. Self-report measures were used. Results show that FoMO directly and indirectly predicts emotional symptoms. Additionally, FoMO is associated with increased sensitivity to stress associated with experiences of neglect and negative reactions by online peers, and social media addiction. Sensitivity to stress associated with neglect (but not to negative reactions) by online peers is found to mediate the relationship between FoMO and social media addiction, which, in turn, mediates the relationship with emotional symptoms. In general, the study shows that FoMO is a factor in experiencing higher sensitivity to stress associated with neglect by online peers, which in turn my act as a trigger for social media addiction, and ultimately showing a negative impact on emotional well-being of adolescents. Limits and future directions for research are discussed.


Assuntos
Mídias Sociais , Adolescente , Adulto , Criança , Medo , Humanos , Transtorno de Adição à Internet , Itália , Inquéritos e Questionários , Adulto Jovem
6.
Addict Behav ; 95: 226-232, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31103243

RESUMO

Facebook Addiction (FA) is a problem that concerns minors all over the world. The attachment bond with peers and parents has been proven to be a risk factor for the onset of FA. However, the family and peer group can have a different importance depending on the developmental period of the minor. This study examined the influence of peer and parental attachment on the symptoms of FA in early adolescents and adolescents to verify whether attachment to peers and parents predicts FA symptoms in both categories respectively. The sample was composed of 598 participants (142 early adolescents) between the ages of 11 and 17 years (M age = 14.82, SD = 1.52) recruited in the school setting. Multivariate multiple regressions were performed. For early adolescents the relationships with their parents influenced the levels of FA the most (such as withdrawal, conflict, and relapse), whereas peer relationships (such as, peer alienation) were the most relevant for adolescents. Our study provides support to the role of attachment to peers and parents as a risk factor for symptoms of FA. In line with developmental theories, parents and peers acquire a different weight in predicting the relationship between attachment and FA for early adolescents and adolescents respectively. Clinical implications and future research directions are discussed.


Assuntos
Comportamento Aditivo/psicologia , Relações Interpessoais , Apego ao Objeto , Redes Sociais Online , Relações Pais-Filho , Grupo Associado , Adolescente , Afeto , Comportamento Aditivo/epidemiologia , Criança , Comunicação , Dissidências e Disputas , Conflito Familiar , Feminino , Humanos , Itália/epidemiologia , Masculino , Fatores de Risco , Alienação Social , Confiança
7.
Rheumatology (Oxford) ; 58(7): 1239-1244, 2019 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-30726990

RESUMO

OBJECTIVE: Immunoblot (IB) methods are widely used to detect myositis-specific autoantibodies (MSAs); however, false-positive results are common. In this study, we aimed to determine whether associating the anti-nuclear antibody (ANA) IIF pattern may help to improve the specificity of MSA detection by IB in patients with idiopathic inflammatory myositis (IIM). METHODS: Serum samples from 104 patients presenting with muscle weakness/myalgia and positive to at least one MSA by IB (MYOS12 Diver and MIOS7 Diver, D-tek) were tested for ANAs on HEp-2000 cells (Immuno Concepts). The chi-square test was used to analyse the concordance of the MSA result and its corresponding pattern by ANA testing between patients with and without IIM. RESULTS: Eighty-three of the 104 patients had a diagnosis of definite IIM, while in 21 cases, patients were affected by other autoimmune diseases or various non-systemic diseases. Forty nine of 83 (59%) patients in the IIM group and 4/21 (19%) in the non-IIM group showed a concordance between ANA pattern and MSAs by IB (P < 0.001). MSA monopositivity was significantly associated with IIM (91.6%) compared with 61.9% in the non-IIM group (P = 0.0005). CONCLUSIONS: Considering both the MSA result and its corresponding pattern by ANA testing may help to improve the specificity of MSA detection by IB and to confirm the diagnosis of MSA-associated IIM. The monopositivity of MSAs is an important additional tool to validate IB results.


Assuntos
Anticorpos Antinucleares/sangue , Doenças Autoimunes/diagnóstico , Miosite/diagnóstico , Idoso , Algoritmos , Doenças Autoimunes/imunologia , Biomarcadores/sangue , Diagnóstico Diferencial , Feminino , Imunofluorescência/métodos , Humanos , Immunoblotting/métodos , Masculino , Pessoa de Meia-Idade , Miosite/imunologia , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
8.
Auto Immun Highlights ; 10(1): 3, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32257059

RESUMO

PURPOSE: The introduction of the anti-phosphatidylserine/prothrombin (aPS/PT) antibodies among the routinely investigated anti-phospholipid (aPL) antibodies led to an improvement in anti-phospholipid syndrome (APS) laboratory diagnostic performance; however, their pathogenic mechanism is still substantially undefined. To support clinical data and future inclusion as possible new criteria antibodies, we designed a head-to-head study to directly compare the procoagulant effects sustained in vitro by aPS/PT to those sustained by anti-ß2-glycoprotein I (aß2GpI) domain 1-specific antibodies. METHODS: Blood donors-derived monocytes and endothelial cells (HUVEC) were stimulated with lipopolysaccharides (LPS) alone or in combination with the IgG fractions isolated from the serum of six APS patients, positive only for aß2GpI or for aPS/PT antibodies. As control, cells were incubated with LPS plus the IgG isolated from blood donors. Tissue factor (TF) mRNA expression was measured after four hours incubation by real-time PCR. Nitric oxide (NO) levels were measured in cells supernatant after 16 h incubation by colorimetric assay. RESULTS: aPS/PT and aß2GpI IgG antibodies fractions showed comparable ability to enhance LPS-induced TF mRNA expression, either in monocytes and in HUVEC. Compared to LPS alone, we found that NO levels are strongly overproduced in HUVEC treated with LPS plus aß2GpI and aPS/PT IgG fractions. CONCLUSIONS: Our data support the significant and independent role of aPS/PT in the pathogenesis of the thrombotic events in APS patients, possibly adding new light to the therapeutic management of cases characterized by the sole presence of aPS/PT IgG antibodies.

10.
J Biol Regul Homeost Agents ; 32(4 Suppl. 1): 15-20. 4° JOINT MEETING OF PATHOLOGY AND LABORATORY MEDICINE SIPMET­SIPMEL - SECOND JOINT MEETING IN COLLABORATION WITH ASIP­AMP­UEMS­WASPALM - 4° SIPMEL NATIONAL CONGRESS - 34° SIPMET NATIONAL CONGRESS - 4° CONGRESS OF PATHOLOGY AND LABORATORY MEDICINE, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30761862
11.
Pharmacogenomics J ; 16(3): 238-42, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26149736

RESUMO

The genetic predisposition to a long-term efficacy of anti-tumor necrosis factor (TNF)α treatment in seronegative spondyloarthritis (SpA) was investigated by analysing the possible correlation between several single nucleotide gene polymorphisms and the retention rate of anti-TNFα therapies. We compared patients needing to switch the first anti-TNFα (Sw, No. 64) within at least 12 months of follow-up with patients not needing to switch (NSw, No. 123), observing at least 6 months of treatment to establish anti-TNFα failure, leading to treatment change. Response to treatment was evaluated by standardised criteria (BASDAI for axial involvement, DAS28-EULAR for peripheral involvement). The TNFα -308 A allele and the interleukin (IL)-6 -174GG homozygosis resulted as independent biomarkers predicting survival of the first anti-TNFα therapy in SpA patients (P=0.007, odds ratio (OR): 4.4, 95% confidence interval (CI)=1.5-13.1 and P=0.035, OR: 2.1, 95% CI=1.1-4.4). Also, the male gender (P=0.001, OR: 3.4, 95% CI=1.6-7.1) associated with the NSw phenotype, whereas no association was found either with the specific diagnosis or the predominant joint involvement.


Assuntos
Antirreumáticos/uso terapêutico , Produtos Biológicos/uso terapêutico , Interleucina-6/genética , Variantes Farmacogenômicos/genética , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Espondilartrite/tratamento farmacológico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Fator de Necrose Tumoral alfa/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Antirreumáticos/efeitos adversos , Produtos Biológicos/efeitos adversos , Distribuição de Qui-Quadrado , Substituição de Medicamentos , Feminino , Estudos de Associação Genética , Homozigoto , Humanos , Itália , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Razão de Chances , Testes Farmacogenômicos , Fenótipo , Valor Preditivo dos Testes , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores Sexuais , Espondilartrite/sangue , Espondilartrite/genética , Espondilartrite/imunologia , Fatores de Tempo , Falha de Tratamento , Fator de Necrose Tumoral alfa/imunologia , Adulto Jovem
12.
Br J Dermatol ; 167(4): 926-8, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22564212

RESUMO

BACKGROUND: Recent evidence indicates that subclinical infection by Chlamydophila psittaci occurs in a significant percentage of patients with chronic inflammatory polyarthritis, including psoriatic arthritis. OBJECTIVE: To assess the prevalence of Chlamydiae infection in a large cohort of well-characterized patients with psoriasis. METHODS: The presence of a subclinical C. psittaci infection was investigated in 64 patients with psoriasis, including 12 patients with psoriatic arthritis. Two hundred and twenty-five healthy controls were also investigated. The presence of infection was assessed in peripheral blood mononuclear cells using several polymerase chain reaction protocols, targeting different regions of the bacterial genome. The DNA of other species (Chlamydophila pneumoniae and Chlamydia trachomatis) was also investigated. RESULTS: Chlamydophila psittaci infection was observed in a significantly higher percentage of patients with psoriasis (11/64, 17%) compared with healthy controls (1/225, 0.4%) (odds ratio 46.49, 95% confidence interval 5.87-368.03; P < 0.0001). No differences in age, sex or disease duration were noticed between positive and negative patients, but the majority of the positive patients were on immunomodulatory treatments. CONCLUSION: Chlamydophila psittaci may be an infectious trigger possibly involved in the pathogenesis of psoriasis.


Assuntos
Chlamydophila psittaci/isolamento & purificação , DNA Bacteriano/genética , Psitacose/microbiologia , Psoríase/microbiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Chlamydophila psittaci/genética , Estudos de Coortes , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Adulto Jovem
13.
Clin Rev Allergy Immunol ; 42(3): 279-87, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21181303

RESUMO

Celiac disease (CD) is a gluten-dependent immune-mediated disease with a prevalence in the general population estimated between 0.3% and 1.2%. Large-scale epidemiological studies have shown that only 10-20% of cases of CD are identified on the basis of clinical findings and that laboratory tests are crucial to identify subjects with subtle or atypical symptoms. The correct choice and clinical use of these diagnostic tools may enable accurate diagnosis and early recognition of silent CD cases. In this review, we have considered some relevant aspects related to the laboratory diagnosis of CD and, more extensively, of gluten intolerance, such as the best combination of tests for early and accurate diagnosis, the diagnostic role of new tests for detecting antibodies against neoepitopes produced by the transglutaminase-gliadin complex, the forms of non-celiac gluten intolerance (gluten sensitivity), and the use and significance of measuring cytokines in CD.


Assuntos
Doença Celíaca/diagnóstico , Doença Celíaca/imunologia , Glutens/imunologia , Animais , Autoantígenos/imunologia , Citocinas/imunologia , Citocinas/metabolismo , Gliadina/imunologia , Humanos , Transglutaminases/imunologia
14.
Autoimmun Rev ; 9(3): 165-9, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19647102

RESUMO

Elevated B-Lymphocyte Stimulator (BLyS) and April (a proliferation-inducing ligand) expressions characterize several autoimmune diseases. We here analysed the possible role of BLyS and April in autoimmune thyroid diseases (AITD), comprising Hashimoto's thyroiditis (HT) and Graves' disease (GD). Seventy-seven patients with AITD and 77 blood donors (HBD) were enrolled in the study. Serum BLyS and April levels were assessed by ELISA. Results indicated a significant upregulation of BLyS in AITD patients (1.12+/-0.39 ng/ml versus 0.666+/-0.240 ng/ml in HBD; p<0.0001), with GD patients presenting higher BLyS levels than HT patients (1.22+/-0.42 ng/ml versus 1.07+/-0.38 ng/ml; p=0.0393). In contrast, April levels were downregulated, but only in HT patients [9.9+/-36.6 (median 0) ng/ml versus 7.4+/-22.1 (median 1.16) ng/ml in HBD; p=0.003; and versus 4.2+/-5.9 ng/ml (median 0.9) ng/ml in GD; p=0.0353]. In HT patients, Levo-thyroxine supplementation further increased BLyS and tended to normalize April levels. Neither BLyS nor April did correlate with the levels of the pathognomonic autoantibodies (TPOAb, TgAb, TRAb). Data are preliminary, but, for the first time, we provide the analyses of BLyS and April levels in AITD patients, suggesting new tools for the diagnosis, prognosis and possible therapeutic management of AITD.


Assuntos
Fator Ativador de Células B/sangue , Tireoidite Autoimune/sangue , Membro 13 da Superfamília de Ligantes de Fatores de Necrose Tumoral/sangue , Fator Ativador de Células B/imunologia , Regulação para Baixo , Feminino , Doença de Graves/sangue , Doença de Graves/imunologia , Doença de Hashimoto/sangue , Doença de Hashimoto/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Tireoidite Autoimune/imunologia , Membro 13 da Superfamília de Ligantes de Fatores de Necrose Tumoral/imunologia , Regulação para Cima
15.
Reumatismo ; 62(4): 253-8, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21253618

RESUMO

OBJECTIVE: Identification of genetic biomarkers of response to biologics in rheumatoid arthritis (RA) is a relevant issue. The -174G>C interleukin-6 (IL-6) promoter polymorphism was investigated in RA patients treated with rituximab (RTX), being IL-6 a key cytokine for B cell survival and proliferation, thus possibly implicated in rituximab efficacy. METHODS: The study was conducted in a real-life retrospective cohort of 142 unselected RA patients (120F/22M) treated with RTX and referred to 7 rheumatologic centres in the north of Italy. One hundred and thirteen (79.6%) patients were rheumatoid factor (RF)-positive and 112 (78.9%) were anti-CCP antibodies positive. The response to therapy was evaluated at the end of the sixth month after the first RTX infusion, by using both the EULAR criteria (DAS28) and the ACR criteria. The IL-6 -174G>C promoter polymorphism was analyzed by RFLP following previously reported methods. RESULTS: Lack of response to RTX at month +6 by EULAR criteria was more prevalent in RA patients with the IL-6 -174 CC genotypes (9/21, 42.8%), than in the GC/GG patients (23/121, 19.0%) (OR 3.196, 95% CI=1.204-8.485; p=0.0234). Similar results were found when evaluating the response by ACR criteria. No differences were found in RA duration, baseline DAS28, baseline HAQ, RF status, anti-CCP status according to the different IL-6 -174 genotypes. CONCLUSION: IL-6 promoter genotyping may be useful to better plan treatment with RTX in RA. Larger replication studies are in course to confirm these preliminary results.


Assuntos
Anticorpos Monoclonais Murinos/uso terapêutico , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/genética , Interleucina-6/genética , Polimorfismo Genético , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Rituximab
16.
Gene Ther ; 17(3): 432-8, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19907501

RESUMO

Potentially viable therapeutic approaches for Duchenne muscular dystrophy (DMD) are now within reach. Indeed, clinical trials are currently under way. Two crucial aspects still need to be addressed: maximizing therapeutic efficacy and identifying appropriate and sensible outcome measures. Nevertheless, the end point of these trials remains painful muscle biopsy to show and quantify protein restoration in treated boys. In this study we show that PMMA/N-isopropil-acrylamide+ (NIPAM) nanoparticles (ZM2) bind and convey antisense oligoribonucleotides (AONs) very efficiently. Systemic injection of the ZM2-AON complex restored dystrophin protein synthesis in both skeletal and cardiac muscles of mdx mice, allowing protein localization in up to 40% of muscle fibers. The mdx exon 23 skipping level was up to 20%, as measured by the RealTime assay, and dystrophin restoration was confirmed by both reverse transcription-PCR and western blotting. Furthermore, we verified that dystrophin restoration also occurs in the smooth muscle cells of the dorsal skin arrector pili, an easily accessible histological structure, in ZM2-AON-treated mdx mice, with respect to untreated animals. This finding reveals arrector pili smooth muscle to be an appealing biomarker candidate and a novel low-invasive treatment end point. Furthermore, this marker would also be suitable for subsequent monitoring of the therapeutic effects in DMD patients. In addition, we demonstrate herein the expression of other sarcolemma proteins such as alpha-, beta-, gamma- and delta-sarcoglycans in the human skin arrector pili smooth muscle, thereby showing the potential of this muscle as a biomarker for other muscular dystrophies currently or soon to be the object of clinical trials.


Assuntos
Distrofina/biossíntese , Terapia Genética/métodos , Distrofia Muscular de Duchenne/terapia , Nanopartículas/administração & dosagem , Oligorribonucleotídeos Antissenso/administração & dosagem , Acrilamidas/administração & dosagem , Acrilamidas/química , Animais , Distrofina/genética , Éxons , Coração , Humanos , Masculino , Camundongos , Camundongos Endogâmicos mdx , Músculo Liso/metabolismo , Nanopartículas/química , Oligorribonucleotídeos Antissenso/química , Oligorribonucleotídeos Antissenso/genética , Polimetil Metacrilato/administração & dosagem , Polimetil Metacrilato/química , Sarcoglicanas/genética , Pele/metabolismo
17.
Reumatismo ; 61(3): 182-6, 2009.
Artigo em Italiano | MEDLINE | ID: mdl-19888503

RESUMO

OBJECTIVE: Predictors of response to biologics in rheumatoid arthritis (RA) is an important issue in the current era. Rituximab (RTX) has been demonstrated effective and safe in active RA, resistant to traditional or biologic DMARDs. METHODS: Fifty-seven patients with active longstanding RA were treated with RTX after traditional DMARD or anti-TNF alpha therapy failure. RESULTS: Number of anti-TNF treatment previously failed (p=0.005), HAQ (p=0.013), rheumatoid factor (RF) (p=0.0002) and anti-CCP (p=0.006) were associated with an ACR response > or =50 at the end of 6th month by univariate analysis. Multivariate analysis confirmed that the number of anti-TNF previously failed, baseline HAQ and RF, but not anti-CCP were associated with an ACR response > or =50. EULAR moderate/good response was associated with ESR value (p=0.036), HAQ (p=0.032), and RF (p=0.01) by univariate analysis, while only RF positivity was associated with EULAR moderate/good response by multivariate analysis. CONCLUSIONS: RF positivity rather than anti-CCP positivity is a predictor of response to RTX, suggesting that RF-positive patients with low disability may obtain a clinical response when treated to RTX after the first anti-TNF agent failure or after traditional DMARD therapies. Larger studies are required to confirm these results.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Proteína C-Reativa/metabolismo , Fator Reumatoide/sangue , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticorpos Monoclonais Murinos , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/imunologia , Biomarcadores/sangue , Avaliação da Deficiência , Quimioterapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Rituximab , Índice de Gravidade de Doença , Resultado do Tratamento
18.
Eur J Med Res ; 14(3): 113-7, 2009 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-19380281

RESUMO

BACKGROUND: Endothelial progenitor cells (EPC) which are characterised by the simulateous expression of CD34, CD133 and vascular endothelial growth receptor 2 (VEGF 2) are involved in the pathophysiology of congestive heart failure (CHF) and their number and function is reduced in CHF. But so far our knowledge about the number of circulating hematopoietic stem/ progenitor cells (CPC) expressing the early hematopoietic marker CD133 and CD34 in CHF is spares and therefore we determined their number and correlated them with New York Heart Association (NYHA) functional class. METHODS: CD34 and CD133 surface expression was quantified by flow cytometry in the peripheral venous blood of 41 healthy adults and 101 patients with various degrees of CHF. RESULTS: CD34+, CD133+ and CD34+/CD133+ cells correlated inversely with age. Both the number of CD34+ and of CD34+/CD133+ cells inversely correlated with NYHA functional class. The number of CD133+ cells was not affected by NYHA class. Furthermore the number of CD133+ cells did not differ between control and CHF patients. CONCLUSION: In CHF the release of CD34+, CD133+ and CD34+/CD133+ cells from the bone marrow seems to be regulated differently. Modulating the releasing process in CHF may be a tool in CHF treatment.


Assuntos
Antígenos CD34/sangue , Antígenos CD/sangue , Células Endoteliais/metabolismo , Glicoproteínas/sangue , Insuficiência Cardíaca/sangue , Insuficiência Cardíaca/patologia , Peptídeos/sangue , Células-Tronco/metabolismo , Antígeno AC133 , Idoso , Biomarcadores/sangue , Células da Medula Óssea/citologia , Células da Medula Óssea/metabolismo , Contagem de Células , Ecocardiografia , Citometria de Fluxo , Insuficiência Cardíaca/fisiopatologia , Humanos , Masculino
19.
Hum Mutat ; 30(2): E310-9, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18853462

RESUMO

DMD gene exons duplications account for up to 5-10 % of Duchenne (DMD) and up to 5-19% of Becker (BMD) muscular dystrophies; as for the more common deletions, the genotype-phenotype correlation and the genetic prognosis are generally based on the "reading frame rule". Nevertheless, the transcriptional profile of duplications, abridging the genomic configuration to the eventual protein effect, has been poorly studied. We describe 26 DMD gene duplications occurring in 33 unrelated patients and detected among a cohort of 194 mutation-positive DMD/BMD patients. We have characterized at the RNA level 16 of them. Four duplications (15%) behave as exception to the reading frame rule. In three BMD cases with out-of-frame mutations, the RNA analysis revealed that exon skipping events occurring in the duplicated region represent the mechanism leading to the frame re-establishment and to the milder phenotype. Differently, in a DMD patient carrying an in-frame duplication the RNA behaviour failed to explain the clinical phenotype which is probably related to post-transcriptional-translational mechanisms. We conclude that defining the RNA profile in DMD gene duplications is mandatory both for establishing the genetic prognosis and for approaching therapeutic trials based on hnRNA modulation.


Assuntos
Distrofina/genética , Duplicação Gênica , Distrofia Muscular de Duchenne/genética , Transcrição Gênica , Sequência de Bases , Análise Mutacional de DNA , Humanos , Masculino , Dados de Sequência Molecular , Fases de Leitura Aberta/genética
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