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Multiplex quantitative real-time PCR (MRT-PCR) using blood can improve the diagnosis of intra-abdominal candidiasis (IAC). We prospectively studied 39 patients with suspected IAC in the absence of previous antifungal therapy. Blood cultures, MRT-PCR, and ß-D-glucan (BDG) in serum were performed in all patients. IAC was defined according to the 2013 European Consensus criteria. For MRT-PCR, the probes targeted the ITS1 or ITS2 regions of ribosomal DNA. Candidaemia was confirmed only in four patients (10%), and IAC criteria were present in 17 patients (43.6%). The sensitivity of MRT-PCR was 25% but increased to 63.6% (P = .06) in plasma obtained prior to volume overload and transfusion; specificity was above 85% in all cases. BDG performance was improved using a cutoff > 260 pg/ml, and improvement was not observed in samples obtained before transfusion. In this cohort of high risk of IAC and low rate of bloodstream infection, the performance of non-culture-based methods (MRT-PCR or BDG) was moderate but may be a complementary tool given the limitations of diagnostic methods available in clinical practice. Volume overload requirements, in combination with other factors, decrease the accuracy of MRT-PCR in patients with IAC.
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Candidíase Invasiva/sangue , Candidíase Invasiva/diagnóstico , Infecções Intra-Abdominais/microbiologia , Reação em Cadeia da Polimerase Multiplex , beta-Glucanas/sangue , Antifúngicos/farmacologia , Sondas de DNA , Feminino , Humanos , Infecções Intra-Abdominais/sangue , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Voriconazole is a triazole antifungal agent recommended as primary treatment for invasive aspergillosis, as well as some other mold infections. However, it presents some pharmacokinetic singularities that lead to a great variability intra- and interindividually, nonlinear pharmacokinetics, and a narrow therapeutic range. Most experts have recommended tracing the levels of voriconazole in patients when receiving treatment. This azole is metabolized through the hepatic enzyme complex cytochrome P450 (CYPP450), with the isoenzyme CYP2C19 being principally involved. Allelic variations (polymorphisms) of the gene that encodes this enzyme are known to contribute to variability in voriconazole exposure. Three different allelic variants, CYP2C19*17, CYP2C19*2, and CYP2C19*3, could explain most of the phenotypes related to the voriconazole metabolism and some of its pharmacokinetic singularities. We designed a rapid molecular method based on high-resolution melting to characterize these polymorphisms in a total of 142 samples, avoiding sequencing. Three PCRs were designed with similar cycling conditions to run simultaneously. The results showed that our method represents a fast, accurate, and inexpensive means to study these variants related to voriconazole metabolism. In clinical practice, this could offer a useful tool to individually optimize therapy and reduce expenses in patients with fungal infections.
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Antifúngicos/farmacologia , Citocromo P-450 CYP2C19/genética , Voriconazol/farmacologia , Aspergilose/tratamento farmacológico , Aspergilose/genética , Genótipo , Farmacocinética , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND: Experience with aerosolized lipid amphotericin B (aeLAB) as therapy or secondary prophylaxis in patients with invasive pulmonary aspergillosis (IPA) is anecdotal. METHODS: We performed a single-center retrospective cohort study to evaluate the efficacy of systemic antifungal therapy with and without aeLAB in patients with proven or probable IPA. Complete or partial response at 3 months was the primary end-point. Clinical response and mortality at 12 months, occurrence of adverse drug reactions and respiratory fungal colonization were secondary end-point. RESULTS: Eleven patients (39%) received aeLAB in addition to systemic antifungal therapy (group A), and 22 (61%) received systemic antifungal therapy only (group B). The use of aeLAB was not standardized. Amphotericin B lipid complex was used in all patients but one, who received liposomal amphotericin B. Five patients received aeLAB as antifungal complementary therapy and 6 received it as secondary prophylaxis. Except for the requirement of inhaled corticosteroids and home oxygen therapy, more frequent in group A, both groups were similar in baseline conditions. A better (nonsignificant) clinical outcome was observed at 3 months in patients receiving aeLAB. Only uncontrolled baseline condition was associated with one-year mortality in univariate analysis (p = 0.002). A multivariate Cox regression analysis suggests that aeLAB, corrected for uncontrolled underlying disease, reduces mortality at 12 months (HR 0.258; 95% CI 0.072-0.922; p = 0.037). CONCLUSION: Although no significant difference was observed in the main variable (3-month clinical response) and in spite of methodological limitations of the study, the possible survival benefit of aeLAB, adjusted for the control of the underlying disease, could justify the performance of well-controlled studies with a greater number of patients.
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Aerossóis , Anfotericina B/administração & dosagem , Antifúngicos/administração & dosagem , Quimioprevenção/métodos , Terapias Complementares/métodos , Aspergilose Pulmonar Invasiva/tratamento farmacológico , Prevenção Secundária/métodos , Adulto , Idoso , Anfotericina B/efeitos adversos , Antifúngicos/efeitos adversos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/patologia , Feminino , Humanos , Aspergilose Pulmonar Invasiva/prevenção & controle , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Análise de Sobrevida , Resultado do TratamentoRESUMO
Neither breakpoints (BPs) nor epidemiological cutoff values (ECVs) have been established for Candida spp. with anidulafungin, caspofungin, and micafungin when using the Sensititre YeastOne (SYO) broth dilution colorimetric method. In addition, reference caspofungin MICs have so far proven to be unreliable. Candida species wild-type (WT) MIC distributions (for microorganisms in a species/drug combination with no detectable phenotypic resistance) were established for 6,007 Candida albicans, 186 C. dubliniensis, 3,188 C. glabrata complex, 119 C. guilliermondii, 493 C. krusei, 205 C. lusitaniae, 3,136 C. parapsilosis complex, and 1,016 C. tropicalis isolates. SYO MIC data gathered from 38 laboratories in Australia, Canada, Europe, Mexico, New Zealand, South Africa, and the United States were pooled to statistically define SYO ECVs. ECVs for anidulafungin, caspofungin, and micafungin encompassing ≥97.5% of the statistically modeled population were, respectively, 0.12, 0.25, and 0.06 µg/ml for C. albicans, 0.12, 0.25, and 0.03 µg/ml for C. glabrata complex, 4, 2, and 4 µg/ml for C. parapsilosis complex, 0.5, 0.25, and 0.06 µg/ml for C. tropicalis, 0.25, 1, and 0.25 µg/ml for C. krusei, 0.25, 1, and 0.12 µg/ml for C. lusitaniae, 4, 2, and 2 µg/ml for C. guilliermondii, and 0.25, 0.25, and 0.12 µg/ml for C. dubliniensis. Species-specific SYO ECVs for anidulafungin, caspofungin, and micafungin correctly classified 72 (88.9%), 74 (91.4%), 76 (93.8%), respectively, of 81 Candida isolates with identified fks mutations. SYO ECVs may aid in detecting non-WT isolates with reduced susceptibility to anidulafungin, micafungin, and especially caspofungin, since testing the susceptibilities of Candida spp. to caspofungin by reference methodologies is not recommended.
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Antifúngicos/farmacologia , Candida/efeitos dos fármacos , Equinocandinas/farmacologia , Lipopeptídeos/farmacologia , Anidulafungina , Candida/genética , Caspofungina , Micafungina , Testes de Sensibilidade Microbiana , Mutação/genéticaRESUMO
BACKGROUND: New techniques, such as those based on multiplex quantitative real-time PCR (MRT-PCR), can improve the detection of invasive candidiasis (IC). METHODS: We prospectively studied 63 intensive care unit patients with suspected IC and 40 healthy controls. Blood cultures and MRT-PCR were performed at day 0 and +2, +7, +14 and +21 days in all patients. In addition, ß-d-glucan (BDG) and Candida albicans germ tube antibody (CAGTA) were quantified. RESULTS: IC was confirmed in 27 patients. Colonization was significantly higher in patients with IC (96% versus 64%, Pâ=â0.002). The sensitivity, specificity, positive predictive value and negative predictive value of MRT-PCR for the diagnosis of IC were 96.3%, 97.3%, 92.8% and 98.7%, respectively. The positive predictive value and specificity were significantly higher for MRT-PCR than for BDG and CATGA. MRT-PCR performed very well, especially in deep-seated IC (sensitivity 90.9% versus 45.4% for blood culture; Pâ=â0.06). As regards the most appropriate clinical sample for DNA amplification, in this study whole blood and serum presented similar results. CONCLUSIONS: MRT-PCR appears to be a useful test for confirming a diagnosis of IC in critically ill patients, especially in those with deep-seated disease. Its high sensitivity and positive predictive value make it a much more efficient tool for the management of IC than other diagnostic procedures and clinical scores.
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Candidíase Invasiva/sangue , Candidíase Invasiva/diagnóstico , Unidades de Terapia Intensiva/normas , Reação em Cadeia da Polimerase em Tempo Real/normas , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
OBJECTIVE: To evaluate health-related quality of life (HRQOL), patient satisfaction, and adherence to treatment in patients with moderate or severe atopic dermatitis on maintenance therapy. MATERIAL AND METHODS: We performed a national, multicenter, cross-sectional, epidemiological study in adults and children with moderate or severe atopic dermatitis of at least 16 months' duration who were receiving maintenance therapy. We used the Dermatology Life Quality Index (DLQI), the children's version of this scale (cDLQI), and the Morisky medication adherence scale. Visual analog scales were used to measure treatment satisfaction. We used the Mann-Whitney U test to compare HRQOL between patients with moderate and severe disease and the Wilcoxon test to compare the frequency and duration of flares before and after the start of maintenance therapy. RESULTS: We studied 141 children and 141 adults; the prevalence of moderate AD in these groups was 85.8% and 79.4%, respectively. The impact of AD on HRQOL was mild to moderate. Maintenance therapy led to a significant decrease in the frequency and duration of flares (P < .001). While treatment satisfaction was high in both groups, adherence was poor (18.4%-42.6% in children and 14.9%-27.0% in adults). CONCLUSIONS: Patients with moderate and severe AD receiving maintenance therapy experience a reduction in the number and duration of flares and an improvement in HRQOL. While treatment satisfaction is high, adherence rates could be improved.
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Dermatite Atópica/tratamento farmacológico , Adesão à Medicação/estatística & dados numéricos , Satisfação do Paciente , Qualidade de Vida , Adulto , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Índice de Gravidade de DoençaRESUMO
OBJECTIVES: The psychosocial impact of psoriasis is well documented. However, the contributing role of clinical disease characteristics is not satisfactorily explored. This study aimed to validate the Self-administered Psoriasis Area and Severity Index (SAPASI) to a Portuguese population (SAPASI-PT) and to perform its cross-validation, assessing how the results will generalize to an independent data set, with the Psoriasis Area and Severity Index (PASI), in order to assess the influence of psoriasis' severity on psychosocial disability and psychopathology. METHODS: A cross-sectional study with 228 patients with psoriasis was carried out. Data was collected through a sociodemographic and clinical questionnaire, SAPASI-PT, the Psoriasis Disability Index (PDI) and the Brief Symptoms Inventory (BSI). The cultural and linguistic adaptation of SAPASI to a Portuguese version and the cross validation with PASI was carried out. Multiple associations between psychosocial disability, psychopathology and severity, discomfort and location of lesions were investigated through logistic regression models. RESULTS: A good adjustment model for SAPASI-PT is found. Also, associations between psychosocial disability, psychopathology and the psoriasis severity and discomfort are found. The existence of lesions is positively associated with the severity of the disease. Patients with lesions in hands or genitals are those reporting a greater discomfort. The presence of lesions in hands is positively associated with PDI, i.e., with leisure and with treatment, marginally. Additionally, patients scoring higher in the personal dimension are found to have a significantly greater percentage of lesions in the genitals. CONCLUSIONS: The psoriasis severity and location of lesions are important determinants of patients´ quality of life. Lesions on face, hands and genitals are associated with a higher impact on psychosocial wellbeing of patients. Psychological counselling should be considered within psoriasis treatment context in patients with the described disease manifestations.
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Transtornos Mentais , Psoríase , Estudos Transversais , Humanos , Portugal , Psicometria , Qualidade de Vida , Índice de Gravidade de Doença , Inquéritos e QuestionáriosRESUMO
Religion is a construct widely present in most people's lives. Religious motivations, either intrinsic or extrinsic, as well as religious centrality, are crucial aspects of religion. In the Portuguese population, there are no validated instruments to assess these aspects of religion. Accordingly, this study intends to validate the Intrinsic Religious Motivation Scale (IRMS) and the Centrality of Religiosity Scale (CRS) for the Portuguese population. This is a validation study whose sample consists of 326 participants (73.1% women) from the general population. Exploratory and confirmatory factor analyses were carried out and the correlations between the constructs and self-compassion were determined to assess the convergent and divergent validity. The results obtained confirm the existence of models adjusted to the population, allowing us to conclude that the instruments are reliable for assessing the studied constructs. The validation of the IRMS and CRS for the Portuguese population is of outstanding importance, as it provides researchers in the field with valid instruments and psychometric qualities to carry out research within religion and religiosity.
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The COVID-19 pandemic scenario has a psychological impact on individuals and society. A higher level of perceived risk concerning COVID-19 has been found when compared to other potential health threats. A misperception of risk in contrast with the real risk may lead people to develop disruptive cognitive, affective, or behavioral responses to the COVID-19 pandemic, namely, coronaphobia. Validated instruments are needed to evaluate such responses. This work aims to validate the COVID-19 Perceived Risk Scale (C19PRS) and the COVID-19 Phobia Scale (C19PS) in the Portuguese population. The two scales were translated from English to Portuguese using the back-translation technique. The cultural adaptation was framed in the context of establishing the validity and reliability of the instruments. In two studies, C19PRS and C19PS were validated for the adult Portuguese population (N = 1122; women = 725 (64.6%); mean age of 31.91 years old) through exploratory factorial analysis, followed by a confirmatory factorial analysis. Convergent validity was calculated by composite reliability (CR) and average variance extracted (AVE) values. Discriminant validity was assessed by square roots of the AVE values and their comparison with the C19PRS and C19PS dimensions' cross-correlations. Both C19PRS and C19PS present a good adjustment model and solid reliability and validity and have significant correlations with fear of COVID-19 and COVID-19 anxiety scales.
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This cross-sectional study aims to determine the psychological factors that contribute to the perceived impact of COVID-19 on travel using a convenience sample (N = 1122) from the general population to whom instruments assessing the perception of the COVID-19 pandemic's impact on travel, anxiety, fear, phobia, risk perception, and stress were applied. The participants were mainly female (65.6%), had not attended university, and who were professionally active, with a mean age of around 30-years-old (M = 31.91, SD = 13.76, Min = 18, Max = 81). The perceived impact of COVID-19 on travel correlates with all of the psychological variables, mainly in terms of the emotional fear of COVID-19. Together with the perceived risk of COVID-19, social phobia due to COVID-19, and COVID-19 stress contamination, these variables explain 20% of the perceived impact of COVID-19 on travel variance. The relationship between COVID-19 stress socio-economic consequences and the perception of the pandemic's impact on travel is moderated by the emotional perceived risk of COVID-19. Fear and perception of this risk explain the impact of the COVID-19 on travel in pandemic times, suggesting that the psychological impact of fear and anxiety induced by the pandemic needs to be handled as a public health priority.
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The aim of this study is to determine the anxiety and fear related to coronavirus disease 2019 (COVID-19) and their associations with travel, tourism and hospitality, in the Portuguese population. The Coronavirus Anxiety Scale (CAS) and Fear of COVID-19 Scale (FCV-19S) were validated for the Portuguese population and correlations with issues related to travel, tourism and hospitality were established. CAS and FCV-19S presented a good adjustment model and solid reliability and validity. Correlations between CAS and FCV-19S and the perception of the impact of COVID-19 in travel, tourism and hospitality were found. Participants considered that COVID-19 mainly affected their holidays and leisure time. However, the strongest correlation established was between total FCV-19S and emotional fear FCV-19S and the fear of attending hotel facilities. The Portuguese versions of CAS and FCV-19S are reliable psychological tools to assess anxiety and fear in relation to COVID-19 for the general population. The use of hotel facilities is the most threatening issue related to travel, tourism and hospitality. The results suggest that hotels should invest in hygiene and safety measures that allow users to regain confidence in hotel equipment.
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Ansiedade/epidemiologia , COVID-19/psicologia , Psicometria , Turismo , Medo , Humanos , Portugal/epidemiologia , Reprodutibilidade dos TestesRESUMO
The connection between pharmacists' knowledge and practice on the provided information to patients about dermatoses and their treatment is insufficiently characterized. Furthermore, pharmacists' contributions in counselling and in promoting adherence to topical treatment is not fully understood. This study has three main objectives. It aims to identify the knowledge and practices of pharmacists about dermatoses and their treatment, and to compare the perspective of pharmacists with that of patients regarding treatment information, with the future goal of establishing guidelines on the communication of dosage regimen instructions to dermatological patients and promotion of adherence to treatment, filling a gap. A cross-sectional, exploratory, and descriptive study was carried out. Based on experts' prior knowledge and extensive collected literature information, two questionnaire protocols, one for pharmacists and another one for patients, were designed. Exploratory factor analysis (EFA) and confirmatory factor analysis (CFA) were carried out in relation to the pharmacists' questionnaire for instrument validation. The results indicate that knowledge of pharmacists regarding dermatoses and their treatment is considered acceptable. Most of the pharmacists were reported to provide information to patients. Oppositely, patients reported not to have receive it. This is an important issue because pharmacists play a primary role in the management of several diseases. As non-adherence can be triggered by poor understanding of the dosing instructions, pharmacists' communication practices play an important role in improving this hinderance. Results from this study identified pharmacist-patient communication gaps, so the development of guidelines to improve the transmission of clear dosage regimen instructions and knowledge about patient's disease are of paramount importance. Training programs for continuous education of pharmacist should be implemented to solve the identified communication problems found in this study.
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Serviços Comunitários de Farmácia , Farmacêuticos , Aconselhamento , Estudos Transversais , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Conhecimento , Papel Profissional , Inquéritos e QuestionáriosRESUMO
Sexuality is defined as a multidimensional experience that involves genital, mental, and bodily components. It is also assumed as a basic condition inherent to the human existence that encourages the search for love, intimacy, sex, and proximity to others. The main objective of this study is to assess the relationship between cues of sexual desire and sexual attitudes in Portuguese women. This is a cross-sectional study with 804 Portuguese women to whom the protocol was applied. It included an informed consent, a sociodemographic questionnaire, a questionnaire related to intimacy, a scale of sexual attitudes, and the scale of cues of sexual desire. The protocol was applied via Google Forms due to the current pandemic situation (COVID-19). Differences were found in sexual attitudes and the cues of sexual desire in terms of sociodemographic characteristics, as well as in terms of women's intimacy. Significant correlations were found between the brief sexual attitudes scale (BSAS) and the cues of sexual desire scale (CSDS). Age, sexual orientation, relation nature, sexual practices, visual proximity cues, erotic explicit cues, and sensory explicit cues explain, altogether, 25% of the total sexual attitudes. Additionally, age, sexual orientation, the relation's nature, sexual practices, visual proximity cues, emotional bonding cues, romantic implicit cues, erotic explicit cues, and sensory explicit cues explain, altogether, 30% of the permissiveness. Sexual attitudes are developed under the influence of sociodemographic variables, variables related to women's intimacy, and cues of sexual desire, which are new data in the study of sexual attitudes and have implications at the level of gender issues.
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Spirituality has been identified as an adaptive coping strategy and a predictor of better quality of life in cancer patients. Despite the relevance of spirituality in the health-disease process, it is noted that the assessment of the impact of spirituality in coping with pain is still incipient. The objective of this study is to assess the impact of spirituality in coping with pain in cancer patients. This quantitative cross-sectional study was carried out in a medium-sized hospital and a cancer patient support institution located in northeastern Brazil. A questionnaire with sociodemographic and clinical variables was used and the following instruments were applied: Visual Analogue Scale (VAS); Short-Form McGill Pain Questionnaire (SF-MPQ); Neuropathic Pain 4 Questions (DN4); Spiritual Wellbeing Scale (SWBS); WHOQOL Spirituality, Religiousness and Personal Beliefs (WHOQOL-SRPB). Most people with no pain had higher scores on the SWBS. Neuropathic pain was identified in 23 patients and was associated with the highest level of spirituality used as a way of coping with pain. As faith increases, pain decreases in intensity by 0.394 points. On the other hand, as inner peace increases, pain increases by 1.485 points. It is concluded that faith is a strategy for coping with pain, in particular neuropathic pain, minimizing its intensity. On the other hand, greater levels of inner peace allow to increase the awareness of the painful sensation. It is expected that these findings may be useful to integrate spirituality care in healthcare facilities as a resource for positive coping for people in the process of becoming ill, contributing to the therapeutic path and favouring a new meaning to the experience of the disease.
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Genome copy number changes (copy number variations: CNVs) include inherited, de novo and somatically acquired deviations from a diploid state within a particular chromosomal segment. CNVs are frequent in higher eukaryotes and associated with a substantial portion of inherited and acquired risk for various human diseases. CNVs are distributed widely in the genomes of apparently healthy individuals and thus constitute significant amounts of population-based genomic variation. Human CNV loci are enriched for immune genes and one of the most striking examples of CNV in humans involves a genomic region containing the chemokine genes CCL3L and CCL4L. The CCL3L-CCL4L copy number variable region (CNVR) shows extensive architectural complexity, with smaller CNVs within the larger ones and with interindividual variation in breakpoints. Furthermore, the individual genes embedded in this CNVR account for an additional level of genetic and mRNA complexity: CCL4L1 and CCL4L2 have identical exonic sequences but produce a different pattern of mRNAs. CCL3L2 was considered previously as a CCL3L1 pseudogene, but is actually transcribed. Since 2005, CCL3L-CCL4L CNV has been associated extensively with various human immunodeficiency virus-related outcomes, but some recent studies called these associations into question. This controversy may be due in part to the differences in alternative methods for quantifying gene copy number and differentiating the individual genes. This review summarizes and discusses the current knowledge about CCL3L-CCL4L CNV and points out that elucidating their complete phenotypic impact requires dissecting the combinatorial genomic complexity posed by various proportions of distinct CCL3L and CCL4L genes among individuals.
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Quimiocina CCL3/genética , Quimiocina CCL4/genética , Dosagem de Genes , Família Multigênica/genética , Perfilação da Expressão Gênica , Predisposição Genética para Doença , Variação Genética , Genoma Humano/genética , Humanos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
As a reflection of the culture and norms of the school community, the school climate (SC) is a potential factor connected to students' major behavior problems (BP). Parental involvement (PI) is considered as an essential factor for SC, contributing to promote good students' educational results, as well as better social functioning. The present study aimed to analyze the mediating effect of PI on the relationship between SC and BP, taking into consideration the school personnel perceptions. A total of 329 school personnel (teachers versus no teachers) aged between 29 and 66 (M = 50.78, SD = 7.56), mainly female (79%), were integrated in the sample. Based on the perception of the school personnel, the results indicate moderate level of PI and SC, as well as the existence of different BP in the school context. The mediating effect of PI in the relationship between the SC and BP has been demonstrated. These results suggest that, if the SC and PI are improved, it could be an effective strategy to enhance the social functioning of students in the school context. This study thus contributes to a comprehensive empirical analysis of how PI can improve the relationship between the SC and the BP of Portuguese students.
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The present study aims to characterize football fans and non-fans and to compare their psychopathological symptoms with the latest normative values for the Portuguese population from Canavarro in 2007. Results showed that football fans and non-fans are mostly male, have an affective relationship, are childless, have secondary education or a high degree, and are employed or students; fans are more likely to be male, dating, unemployed, to have elementary education and be younger than non-fans. Football fans present significantly higher psychopathological symptoms than non-fans in somatization, interpersonal sensitivity, anxiety, hostility, paranoid ideation and psychoticism and all psychopathological indexes. Football fans present values very close to those of populations with emotional distress in hostility and are above the mean of the general population in obsession-compulsion, hostility, paranoid ideation and psychoticism.
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Psoriasis is a long-term skin disorder without a cure, whose patients are particularly susceptible to mental health diseases. Using a sample of patients diagnosed with psoriasis, this study aimed to: (1) identify the clinical and positive psychological variables that contribute the most to psoriasis disability and (2) assess the mediator role of body image-related cognitive fusion in the relation between disease severity perception and acceptance and self-compassion, on one hand, and psoriasis disability on the other. This is an initial cross-sectional exploratory study, with 75 patients diagnosed with psoriasis (males 52%; mean age 54.99 ± 13.72) answering a sociodemographic and a clinical questionnaire, the Psoriasis Disability Index (PDI), the Cognitive Fusion Questionnaire-Body Image (CFQ-BI), the Acceptance and Action Questionnaire-II (AAQ-II), and the Self-Compassion Scale (SCS). Descriptive and inferential statistics were used to characterize and assess the measures and the final model used. Through path analysis and a hierarchical multiple linear regression, it was found that the variables that significantly contributed to psoriasis disability were years of education, impact on social life and body image, explaining 70% of the variance. Body image-related cognitive fusion was a significant mediator in the relationship between disease severity and acceptance, and psoriasis disability. The implications of this study are considered to be extremely relevant, since it will allow additional information to be provided to psoriasis patients, appropriated to their educational level, aiming to reduce distorted perceptions of disease severity and intervene in the ability to accept this specific and important chronic health condition.
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Lung transplantation (LT) has become an accepted therapy for selected patients with advanced lung disease. One of the main limitations to successful LT is rejection of the transplanted organ where chemokines are pivotal mediators. Here, we test the relationship between copy number variation (CNV) in the CCL4L chemokine gene and rejection risk in LT patients (n=161). Patients with no acute rejection showed a significantly lower mean number of CCL4L copies than patients that showed acute rejection (1.66 vs 1.96, P=0.014), with an even greater number of gene copies seen in patients with more than one episode of acute rejection (1.66 vs 2.30, P=0.001). Additionally, patients with > or =2 CCL4L copies had a significantly higher risk of acute rejection compared with patients that had 0-1 CCL4L copies (odds ratio 2.65; 95% confidence interval, 1.33-5.28; P=0.0046). A combined analysis of CCL4L CNV and the rs4796195 CCL4L single nucleotide polymorphism demonstrated that the effect of CCL4L copy number in acute rejection is mainly because of the number of copies of the CCL4L1 allelic variant. This finding constitutes the first report of CNV as a correlate factor in allograft rejection.
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Quimiocina CCL4/genética , Rejeição de Enxerto/genética , Transplante de Pulmão , Doença Aguda , Doença Crônica , Feminino , Dosagem de Genes/genética , Frequência do Gene/genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
The recent description of a large amount of copy number variation (CNV) in the human genome has extended the concept of genome diversity. In this study we integrate the analysis of CNV and single nucleotide polymorphisms (SNPs) in the human CCL4L chemokine gene. CCL4L is a nonallelic copy of CCL4/MIP-1beta chemokine and displays a CNV that also includes the CCL3L gene, a nonallelic copy of CCL3/MIP-1alpha. This CNV and two functionally relevant CCL4L SNPs (rs4796195 and rs3744595) have been recently associated to HIV pathology in three independent studies. We have quantified the CCL4L copy number and genotyped both SNPs in samples from HGDP-CEPH Diversity Panel. A strong correlation between CCL4L CNV and one of the SNPs analyzed is found, whereas no significant linkage disequilibrium is found between the two SNPs despite their close distance (647 bp), suggesting a recent appearance of the second SNP when the diversity in the first one and CNV had already been generated. The present study points out that in genes with CNV, it may be a key issue to combine the assessment of gene copy number with the genotyping of relevant SNPs to understand the phenotypic impact of genome variation in the immune response.