Is there a common genetic basis for autoimmune diseases?

Autoimmune diseases (ADs) represent a diverse collection of diseases in terms of their demographic profile and primary clinical manifestations. The commonality between them however, is the damage to tissues and organs that arises from the response to self-antigens. The presence of shared pathophysiological mechanisms within ADs has stimulated searches for common genetic roots to these diseases. Two approaches have been undertaken to sustain the “common genetic origin” theory of ADs. Firstly, a clinical genetic analysis showed that autoimmunity aggregates within families of probands diagnosed with primary Sjögren's (pSS) syndrome or type 1 diabetes mellitus (T1D). A literature review supported the establishment of a familiar cluster of ADs depending upon the proband's disease phenotype. Secondly, in a same and well-defined population, a large genetic association study indicated that a number of polymorphic genes (i.e. HLA-DRB1, TNF and PTPN22) influence the susceptibility for acquiring different ADs. Likewise, association and linkage studies in different populations have revealed that several susceptibility loci overlap in ADs, and clinical studies have shown that frequent clustering of several ADs occurs. Thus, the genetic factors for ADs consist of two types: those which are common to many ADs (acting in epistatic pleitropy) and those that are specific to a given disorder. Their identification and functional characterization will allow us to predict their effect as well as to indicate potential new therapeutic interventions. Both autoimmunity family history and the co-occurrence of ADs in affected probands should be considered when performing genetic association and linkage studies.

Prevalencia de enfermedad celiaca en Latinoamérica: revisión sistemática de la literatura y meta-análisis

Introducción: La enfermedad celiaca (EC) es una enfermedad autoinmune (EA) intestinal desencadenada por la ingesta de gluten. Por la falta de información de la presencia de EC en Latinoamérica (LA), nosotros investigamos la prevalencia de la enfermedad en esta región utilizando una revisión sistemática de la literatura y un meta-análisis. Métodos y resultados: Este trabajo fue realizado en dos fases: La primera, fue un estudio de corte transversal de 300 individuos Colombianos. La segunda, fue una revisión sistemática y una meta-regresión siguiendo las guías PRSIMA. Nuestros resultados ponen de manifiesto una falta de anti-transglutaminasa tisular (tTG) e IgA anti-endomisio (EMA) en la población Colombiana. En la revisión sistemática, 72 artículos cumplían con los criterios de selección, la prevalencia estimada de EC en LA fue de 0,46% a 0,64%, mientras que la prevalencia en familiares de primer grado fue de 5,5 a 5,6%, y en los pacientes con diabetes mellitus tipo 1 fue de 4,6% a 8,7% Conclusión: Nuestro estudio muestra que la prevalencia de EC en pacientes sanos de LA es similar a la notificada en la población europea.

Perfectionism as a transdiagnostic process: a clinical review

Perfectionism is a risk and maintaining factor for eating disorders, anxiety disorders and depression. The objective of this paper is to review the four bodies of evidence supporting the notion that perfectionism is a transdiagnostic process. First, a review of the literature was conducted that demonstrates the elevation of perfectionism across numerous anxiety disorders, depression, and eating disorders compared to healthy controls. Data is presented that shows perfectionism increases vulnerability for eating disorders, and that it maintains obsessive–compulsive disorder, social anxiety and depression as it predicts treatment outcome in these disorders. Second, evidence is examined showing that elevated perfectionism is associated with co-occurrence of psychopathology. Third, the different conceptualisations of perfectionism are reviewed, including a cognitive-behavioural conceptualisation of clinical perfectionism that can be utilised to understand this transdiagnostic process. Fourth, evidence that treatment of perfectionism results in reductions in anxiety, depression and eating pathology is reviewed. Finally,the importance of clinicians considering the routine assessment and treatment of perfectionism is outlined.

Autistic symptomatology and language ability in autism spectrum disorder and specific language impairment

Background: Autism spectrum disorders (ASD) and specific language impairment (SLI) are common developmental disorders characterised by deficits in language and communication. The nature of the relationship between them continues to be a matter of debate. This study investigates whether the co-occurrence of ASD and language impairment is associated with differences in severity or pattern of autistic symptomatology or language profile. Methods: Participants (N = 97) were drawn from a total population cohort of 56,946 screened as part of study to ascertain the prevalence of ASD, aged 9 to 14 years. All children received an ICD-10 clinical diagnosis of ASD or No ASD. Children with nonverbal IQ 80 were divided into those with a language impairment (language score of 77 or less) and those without, creating three groups: children with ASD and a language impairment (ALI; N = 41), those with ASD and but no language impairment (ANL; N = 31) and those with language impairment but no ASD (SLI; N = 25). Results: Children with ALI did not show more current autistic symptoms than those with ANL. Children with SLI were well below the threshold for ASD. Their social adaptation was higher than the ASD groups, but still nearly 2 SD below average. In ALI the combination of ASD and language impairment was associated with weaker functional communication and more severe receptive language difficulties than those found in SLI. Receptive and expressive language were equally impaired in ALI, whereas in SLI receptive language was stronger than expressive. Conclusions: Co-occurrence of ASD and language impairment is not associated with increased current autistic symptomatology but appears to be associated with greater impairment in receptive language and functional communication.

Attention processes in children with movement difficulties, reading difficulties or both

Reading difficulties (RD) and movement difficulties (MD) co-occur more often in clinical populations than expected for independent disorders. In this study, we investigated the pattern of association between attentional processes, RD and MD in a population of 9 year old school children. Children were screened to identify index groups with RD, MD or both, plus a control group. These groups were then tested on a battery of cognitive attention assessments (TEA-Ch). Results confirmed that the occurrence of RD and MD was greater than would be predicted for independent disorders. Additionally, children with MD, whether or not combined with RD, had poor performance on all attention measures when compared with typically developing children. Children with RD only, were no poorer on measures of attention than typical children. The results are discussed with respect to approaches proposed to account for the co-occurrence of disorders.

Amygdalar function reflects common individual differences in emotion and pain regulation success

Although the co-occurrence of negative affect and pain is well recognized, the mechanism underlying their association is unclear. To examine whether a common self-regulatory ability impacts the experience of both emotion and pain, we integrated neuroimaging, behavioral, and physiological measures obtained from three assessments separated by substantial temporal intervals. Out results demonstrated that individual differences in emotion regulation ability, as indexed by an objective measure of emotional state, corrugator electromyography, predicted self-reported success while regulating pain. In both emotion and pain paradigms, the amygdala reflected regulatory success. Notably, we found that greater emotion regulation success was associated with greater change of amygdalar activity following pain regulation. Furthermore, individual differences in degree of amygdalar change following emotion regulation were a strong predictor of pain regulation success, as well as of the degree of amygdalar engagement following pain regulation. These findings suggest that common individual differences in emotion and pain regulatory success are reflected in a neural structure known to contribute to appraisal processes.

Fundamental deficits of auditory perception in Wernicke’s aphasia

Objective: This work investigates the nature of the comprehension impairment in Wernicke’s aphasia, by examining the relationship between deficits in auditory processing of fundamental, non-verbal acoustic stimuli and auditory comprehension. Wernicke’s aphasia, a condition resulting in severely disrupted auditory comprehension, primarily occurs following a cerebrovascular accident (CVA) to the left temporo-parietal cortex. Whilst damage to posterior superior temporal areas is associated with auditory linguistic comprehension impairments, functional imaging indicates that these areas may not be specific to speech processing but part of a network for generic auditory analysis. Methods: We examined analysis of basic acoustic stimuli in Wernicke’s aphasia participants (n = 10) using auditory stimuli reflective of theories of cortical auditory processing and of speech cues. Auditory spectral, temporal and spectro-temporal analysis was assessed using pure tone frequency discrimination, frequency modulation (FM) detection and the detection of dynamic modulation (DM) in “moving ripple” stimuli. All tasks used criterion-free, adaptive measures of threshold to ensure reliable results at the individual level. Results: Participants with Wernicke’s aphasia showed normal frequency discrimination but significant impairments in FM and DM detection, relative to age- and hearing-matched controls at the group level (n = 10). At the individual level, there was considerable variation in performance, and thresholds for both frequency and dynamic modulation detection correlated significantly with auditory comprehension abilities in the Wernicke’s aphasia participants. Conclusion: These results demonstrate the co-occurrence of a deficit in fundamental auditory processing of temporal and spectrotemporal nonverbal stimuli in Wernicke’s aphasia, which may have a causal contribution to the auditory language comprehension impairment Results are discussed in the context of traditional neuropsychology and current models of cortical auditory processing.

TRCM: a methodology for temporal analysis of evolving concepts in Twitter

The Twitter network has been labelled the most commonly used microblogging application around today. With about 500 million estimated registered users as of June, 2012, Twitter has become a credible medium of sentiment/opinion expression. It is also a notable medium for information dissemination; including breaking news on diverse issues since it was launched in 2007. Many organisations, individuals and even government bodies follow activities on the network in order to obtain knowledge on how their audience reacts to tweets that affect them. We can use postings on Twitter (known as tweets) to analyse patterns associated with events by detecting the dynamics of the tweets. A common way of labelling a tweet is by including a number of hashtags that describe its contents. Association Rule Mining can find the likelihood of co-occurrence of hashtags. In this paper, we propose the use of temporal Association Rule Mining to detect rule dynamics, and consequently dynamics of tweets. We coined our methodology Transaction-based Rule Change Mining (TRCM). A number of patterns are identifiable in these rule dynamics including, new rules, emerging rules, unexpected rules and ?dead' rules. Also the linkage between the different types of rule dynamics is investigated experimentally in this paper.

Synergy of extreme drought and shrub invasion reduce ecosystem functioning and resilience in water-limited climates

Extreme drought events and plant invasions are major drivers of global change that can critically affect ecosystem functioning and alter ecosystem-atmosphere exchange. Invaders are expanding worldwide and extreme drought events are projected to increase in frequency and intensity. However, very little is known on how these drivers may interact to affect the functioning and resilience of ecosystems to extreme events. Using a manipulative shrub removal experiment and the co-occurrence of an extreme drought event (2011/2012) in a Mediterranean woodland, we show that native shrub invasion and extreme drought synergistically reduced ecosystem transpiration and the resilience of key-stone oak tree species. Ecosystem transpiration was dominated by the water use of the invasive shrub Cistus ladanifer, which further increased after the extreme drought event. Meanwhile, the transpiration of key-stone tree species decreased, indicating a competitive advantage in favour of the invader. Our results suggest that in Mediterranean-type climates the invasion of water spending species and projected recurrent extreme drought events may synergistically cause critical drought tolerance thresholds of key-stone tree species to be surpassed, corroborating observed higher tree mortality in the invaded ecosystems. Ultimately, this may shift seasonally water limited ecosystems into less desirable alternative states dominated by water spending invasive shrubs.

Health problems in elderly patients during the first post-stroke year

BACKGROUND: A wide range of health problems has been reported in elderly post-stroke patients. AIM: The aim of this study was to analyse the prevalence and timing of health problems identified by patient interviews and scrutiny of primary health care and municipality elderly health care records during the first post-stroke year. METHODS: A total of 390 consecutive patients, ≥65 years, discharged alive from hospital after a stroke event, were followed for 1 year post-admission. Information on the health care situation during the first post-stroke year was obtained from primary health care and municipal elderly health care records and through interviews with the stroke survivors, at 1 week after discharge, and 3 and 12 months after hospital admission. RESULTS: More than 90% had some health problem at some time during the year, while based on patient record data only 4-8% had problems during a given week. The prevalence of interview-based health problems was generally higher than record-based prevalence, and the ranking order was moderately different. The most frequently interview-reported problems were associated with perception, activity, and tiredness, while the most common record-based findings indicated pain, bladder and bowel function, and breathing and circulation problems. There was co-occurrence between some problems, such as those relating to cognition, activity, and tiredness. CONCLUSIONS: Almost all patients had a health problem during the year, but few occurred in a given week. Cognitive and communication problems were more common in interview data than record data. Co-occurrence may be used to identify subtle health problems.

Ectoparasitos associados a aves de um fragmento de Floresta Estacional Decidual no Rio Grande do Norte, Brasil

This study to aimed investigate the community of ectoparasites associated with birds in the Mata do Olho D água, in the municipality of Macaíba, Rio Grande do Norte (RN), Brazil, its structure and the ambiental and hosts influential variables on it, and to verify microhabitats preferences by species of chewing lice and feather mites. We examined 172 individuals belonging to 38 species of Passeriformes and non-Passeriformes. 12 new geographic records are reported and 11 host-parasite associations not yet known for chewing lice and feather mites species. Significant relationship was found between the abundance of chewing lice and the variables total length (r = 0.29, p <0.05) and exposed culmen (r = 0.38, p <0.05) of the hosts. A principal component (PC1) accounted for 90.1% of the hosts morphological variation was significantly influential on the abundance of chewing lice (p <0.05), indicating that the morphological characteristics of the hosts may be positively influencing the abundance of these ectoparasites. Significantly higher frequency of individuals with high loads of chewing lice was detected during the dry period (x ² = 8.5, p <0.05), corroborating studies that propose that birds of arid environments suffer as much pressure as those of parasitic humid environments. Analyses of null models of co-occurrence and niche overlap showed a high degree of structure in the feather mites and chewing lice assemblies, when compared with other groups, and preferences in the use of microhabitats by taxa identified. These results corroborate ecological theories in host-parasite systems, contribute to the knowledge of ectoparasites associated with neotropical birds, and the need for experimental studies, as well as further deepening the biology of these arthropods

Comparação de modelos de regressão aleatória para estimação de parâmetros genéticos em caprinos leiteiros

Objetivou-se avaliar a melhor modelagem para as variâncias genética aditiva, de ambiente permanente e residual da produção de leite no dia do controle (PLDC) de caprinos. Utilizaram-se modelos de regressão aleatória sobre polinômios ortogonais de Legendre com diferentes ordens de ajuste e variância residual heterogênea. Consideraram-se como efeitos fixos os efeitos de grupo de contemporâneos, a idade da cabra ao parto (co-variável) e a regressão fixa da PLDC sobre polinômios de Legendre, para modelar a trajetória média da população; e, como efeitos aleatórios, os efeitos genético aditivo e de ambiente permanente. O modelo com quatro classes de variâncias residuais foi o que proporcionou melhor ajuste. Os valores do logaritmo da função de verossimilhança, de AIC e BIC apontaram para seleção de modelos com ordens mais altas (cinco para o efeito genético e sete para o efeito de ambiente permanente). Entretanto, os autovalores associados às matrizes de co-variâncias entre os coeficientes de regressão indicaram a possibilidade de redução da dimensionalidade. As altas ordens de ajuste proporcionaram estimativas de variâncias genéticas e correlações genéticas e de ambiente permanente que não condizem com o fenômeno biológico estudado. O modelo de quinta ordem para a variância genética aditiva e de sétima ordem para o ambiente permanente foi indicado. Entretanto, um modelo mais parcimonioso, de quarta ordem para o efeito genético aditivo e de sexta ordem para o efeito de ambiente permanente, foi suficiente para ajustar as variâncias nos dados.

Obsessive-compulsive symptoms in patients with panic disorder

Comorbidity studies have shown an important association between panic disorder (PD) and obsessive-compulsive disorder (OCD). The aim of the current study was to evaluate the prevalence of obsessive-compulsive symptoms (OCS) and OCD in patients with PD. Forty-eight consecutive PD cases (DSM-IV diagnostic criteria) referred to a Brazilian university hospital clinic were studied. The Yale Brown Obsessive Compulsive scale (Y-BOCS) checklist was used to identify the OCS. Subclinical OCD was considered when subjects met all but one DSM-IV criteria for OCD (symptoms did not cause significant distress and interference, did not last more than 1 hour per day, or were not considered excessive or irrational), and OCS when only the criterion for presence of obsessions or compulsions was met. Twenty-nine (60.4%) of the 48 patients evaluated (19 men and 29 women) had at least one OCS: nine (18.8%) had mild OCS, 11 (22.9%) had subclinical OCD, and nine (18.8%) had comorbid OCD. Therefore, 41.7% of the patients had either clinical or subclinical OCD. OCS occurred more frequently in women and, in 70.4% of the cases, preceded the onset of PD. Our results suggest that it is important to evaluate systematically the co-occurrence of OCS in patients with PD, due to the considerable overlap found in symptoms, which may have therapeutic implications. As panic symptoms are usually the main complaint, OCS are often found only when directly investigated. (C) 2004 Elsevier B.V. All rights reserved.

Limitações do paradigma científico hegemônico no acolhimento ao sofrimento psíquico na atenção básica

O problema que motivou a realização do presente trabalho foi a dificuldade em se acolher o sofrimento psíquico nas unidades de atenção básica. Neste trabalho, investigamos se esta dificuldade se deve à inadequação epistemológica do paradigma hegemônico. Realizamos uma revisão de literatura e analisamos a utilização do termo paradigma na produção científica brasileira recente. Após busca pelas palavras-chave paradigma e medicina e seleção prévia, foram escolhidos 17 textos. A análise foi feita em duas etapas: análise linguística e levantamento da temática emergente. Levantamos as cinquenta palavras mais frequentes e as agrupamos em comunidades de coocorrência, utilizando o algoritmo de Clauset. Os textos discutiam as ideias de Kuhn e trouxeram tanto experiências inovadoras já implantadas em unidades de saúde quanto exemplos de mudanças curriculares nos cursos de medicina. A promoção da saúde aparece como um novo e promissor paradigma para a saúde.