Body mass index and airway hyper-responsiveness in individuals without respiratory disease

BACKGROUND: Overweight and obesity are major health issues in Western societies. They are related with a higher risk of different co-morbidities but their relationship with airway hyperresponsiveness (AHR) is still under discussion. Nevertheless, they are related to higher severity in asthma and other respiratory diseases. The aim of the study was to analyze the AHR in individuals with normal lung function without respiratory disorders, according to body mass index (BMI) calculation. METHODS: We performed clinical observation and basal lung function tests (LFT) in 595 consecutive individuals in order to exclude respiratory disease. 377 individuals fulfilled the criteria of normal values according international guidelines. They were submitted to standardized treadmill exercise test followed by bronchodilator test. FVC, FEV1, FEF 25/75, RV and Raw were obtained at different conditions according to BMI groups (I: lean; II: normal; III: overweight; IV obese). RESULTS: 55.2% of the sample was overweight or obese, and a signficant relationship was found with female gender and older ages (p=0.0046 and p<0.0001 respectively). The positive response to exercise test or bronchodilator beta2 agonists was not significantly frequent compared with the other groups. In obese individuals the exercise markedly reduced basal Raw and increased FEF 25/75. Lean individuals showed higher basal values of RV that was reduced upon exercise. Response to 12 agonists showed no differences according to weight biotypes. CONCLUSION: BMI hampers lung function in normal individuals, and seems not to be related to AHR. Regular exercise should be encouraged in overweight and obese individuals, since it increases their bronchial permeability as shown in lower frequency of positive exercise tests. The same is advisable for lean individuals for different reasons. Their increased basal RV and Raw improve upon exercise. Despite overweight and obesity are being related to a low-grade of basal systemic inflammation, there was no association with a higher basal bronchial hyperresponsiveness in these individuals

An annotated and updated checklist of the ophsthobranchs ((Mollusca: Gastropoda) from Spain and Portugal (including islands and archipelagos)

The present publication is a new annotated and updated checklist of the opisthobranchs (Mollusca, Gastropoda) from the Spanish and Portuguese coasts, including their Atlantic archipelagos (Azores, Madeira, Selvagens and Canary Islands). The bathyal species recorded from the continental shelf of all these areas are also included. Incorporating a review of the literature, 523 species are included on the present checklist, 23 belonging to Architectibranchia, 111 to Cephalaspidea s. s., 14 to Anaspidea, 4 to Acochlidiomorpha, 37 to Thecosomata, 7 to Gymnosomata, 43 to Sacoglossa, 3 to Umbraculoidea, 16 to Pleurobranchoidea and 265 to Nudibranchia: 127 Doridoidea, 42 Dendronotoidea, 9 Arminoidea, and 87 Aeolidoidea. The records these species have been divided into 12 geographic sectors: 1) Spanish coast on the Bay of Biscay; 2) Galicia; 3) mainland coast of Portugal; 4) Andalusian Atlantic coast; 5) Straits of Gibraltar, including Ceuta (northern Africa); 6) Andalusian Mediterranean coast, ..

Portuguese consensus document statement in diagnostic and management of atypical hemolytic uremic syndrome

Among thrombotic microangiopathies (TMA), the hemolytic uremic syndrome associated with dysregulation of the alternative complement pathway (aHUS) is one of the most challenging diseases a nephrologist can face. By the end of the XXth century, the complement’s role was unraveled with the discovery that mutations in the factor H coding gene were responsible for aHUS. But it was the acknowledgment that pharmacological C5-9 blockage provided a cure for aHUS that fostered the interest of the nephrology community in the genetics, pathophysiology and therapeutics of, not only of aHUS, but TMA in general. The molecular genetics of aHUS is technically demanding and, as such, in Portugal (alike many other European countries) a single laboratory emerged as a national reference center. The fact that all samples are evaluated in a single center provides a unique opportunity for data collection and a forum for discussion for all those interested in the field: immunologists, molecular geneticists, pathologists and nephrologists. The current consensus document emerged from such a discussion forum and was sponsored by the Portuguese Society of Nephrology. The goal is more to portray the Portuguese picture regarding the diagnostic approach and therapeutic options than to extensively review the state of the art of the subject. The accompanying documents that are published as supplementary data are in line with that goal. They range from the informed consent and clinical form to be sent together with the biological samples for genetic testing, to the appendix regarding the actual sampling and storing conditions. The document is also intended to set an example for future documents and independente discussion forums on other kidney diseases for which emerging diagnostic and/or therapeutic strategies are reaching clinical practice.info:eu-repo/semantics/publishedVersio

Bridging the ICD11 and the DSM-5 personality disorders classification systems: The role of the PID5BF + M

Introduction: In both the ICD-11 Classification of Personality Disorders and the DSM-5 Alternative Model of Personality Disorders (AMPD) personality disorders (PD) are characterized by impairments in self- and interpersonal functioning which distinguish the various levels of dysfunction. Moreover, pathological traits are used by these classification systems to define the stylistic expression of personality dysfunction. Negative affectivity, detachment, antagonism/dissociality, and disinhibition feature as trait domains in each of these models. However, there are also differences between the two models, namely, in the psychoticism domain, which does not feature as a personality trait domain in the ICD-11, and in the anankastia domain, corresponding to compulsivity in the DSM-5, which was removed from the final AMPD model. Furthermore, facets are acknowledged by the DSM-5 within each trait domain, while this does not occur in the ICD-11. In view of the similarity between these classification systems, their harmonization would be beneficial for the clinical profession. With this goal in mind, the PID5BF + M, an algorithm that assesses the DSM-5 and ICD-11 six trait domains and 18 facets, was developed and has proven to adequately characterize the ICD-11 trait domains by means of DSM-5 trait facets. Methods: The current study compares a community sample (N = 280, Mage = 48.01, 53.2% females) with a PD sample (N = 131, Mage = 42.66, 45.0% females) along with the PID5BF + M, the LPFS-SR and the PID-5. Given that the PID5BF + M total can be seen as a measure of the level of personality dysfunction, strong relations between the PID5BF + M total and the LPFS-SR total are expected. Strong relations between the trait specifiers measured by the PID5BF + M and the PID-5 are also expected. Finally, the community and clinical samples are expected to differentiate by means of the dimensions assessed through the three afore-mentioned measures. The Spearman rank-order correlation coefficient was used to measure the strength and direction of associations between the PID5BF + M total and the LPFS-SR total and between the PID5BF + M and the PID-5 traits. Group differences were explored using the Mann–Whitney U test for independent samples. Results: As expected, there were strong, significant, and positive relations between the measures. Furthermore, higher scores were observed in all the variables for the PD group against the community group. Discussion: Although this study has limitations, its findings sustain that the PID5BF + M has potential to assess the severity of personality disfunction and to characterize the stylistic features of PD as they are conceived by both the ICD-11 and the DSM-5. Although more research is needed regarding the convergent validity of the PID5BF + M, this new test contributes to the harmonization of both systems and to parsimony in the assessment of PD, which is the main objective of clinical practice.info:eu-repo/semantics/publishedVersio

With a little help from DNA barcoding: investigating the diversity of Gastropoda from the Portuguese coast

The Gastropoda is one of the best studied classes of marine invertebrates. Yet, most species have been delimited based on morphology only. The application of DNA barcodes has shown to be greatly useful to help delimiting species. Therefore, sequences of the cytochrome c oxidase I gene from 108 specimens of 34 morpho-species were used to investigate the molecular diversity within the gastropods from the Portuguese coast. To the above dataset, we added available COI-5P sequences of taxonomically close species, in a total of 58 morpho-species examined. There was a good match between ours and sequences from independent studies, in public repositories. We found 32 concordant (91.4%) out of the 35 Barcode Index Numbers (BINs) generated from our sequences. The application of a ranking system to the barcodes yield over 70% with top taxonomic congruence, while 14.2% of the species barcodes had insufficient data. In the majority of the cases, there was a good concordance between morphological identification and DNA barcodes. Nonetheless, the discordance between morphological and molecular data is a reminder that even the comparatively well-known European marine gastropods can benefit from being probed using the DNA barcode approach. Discordant cases should be reviewed with more integrative studies.The present study was financed by FEDER through POFC-COMPETE, in the scope the project FCOMP-01-0124-FEDER-015429 funded by "Fundacao para a Ciencia e a Tecnologia" (FCT), Portugal. Work at CBMA was supported by FCT I.P. through the strategic funding UID/BIA/04050/2013. Sequencing at the Biodiversity Institute of Ontario was funded by the International Barcode of Life (iBOL), through the Canadian Centre for DNA Barcoding, from the Ontario Genomics Institute, Genome Canada, the Ontario Ministry of Research and Innovation, and the Natural Sciences and Engineering Research Council of Canada. Claudia Hollatz was supported by a CAPES Post-doctoral fellowship (Ministry of Education, Brazil), while Jorge Lobo was supported by a PhD fellowship (SFRH/BD/69750/2010) from FCT.info:eu-repo/semantics/publishedVersio

With a little help from DNA barcoding: investigating the diversity of Gastropoda from the Portuguese coast

The Gastropoda is one of the best studied classes of marine invertebrates. Yet, most species have been delimited based on morphology only. The application of DNA barcodes has shown to be greatly useful to help delimiting species. Therefore, sequences of the cytochrome c oxidase I gene from 108 specimens of 34 morpho-species were used to investigate the molecular diversity within the gastropods from the Portuguese coast. To the above dataset, we added available COI-5P sequences of taxonomically close species, in a total of 58 morpho-species examined. There was a good match between ours and sequences from independent studies, in public repositories. We found 32 concordant (91.4%) out of the 35 Barcode Index Numbers (BINs) generated from our sequences. The application of a ranking system to the barcodes yield over 70% with top taxonomic congruence, while 14.2% of the species barcodes had insufficient data. In the majority of the cases, there was a good concordance between morphological identification and DNA barcodes. Nonetheless, the discordance between morphological and molecular data is a reminder that even the comparatively well-known European marine gastropods can benefit from being probed using the DNA barcode approach. Discordant cases should be reviewed with more integrative studies.The present study was financed by FEDER through POFC-COMPETE, in the scope the project FCOMP-01-0124-FEDER-015429 funded by "Fundacao para a Ciencia e a Tecnologia" (FCT), Portugal. Work at CBMA was supported by FCT I.P. through the strategic funding UID/BIA/04050/2013. Sequencing at the Biodiversity Institute of Ontario was funded by the International Barcode of Life (iBOL), through the Canadian Centre for DNA Barcoding, from the Ontario Genomics Institute, Genome Canada, the Ontario Ministry of Research and Innovation, and the Natural Sciences and Engineering Research Council of Canada. Claudia Hollatz was supported by a CAPES Post-doctoral fellowship (Ministry of Education, Brazil), while Jorge Lobo was supported by a PhD fellowship (SFRH/BD/69750/2010) from FCT.info:eu-repo/semantics/publishedVersio

Tratamento tardio de ferimento em face

O complexo zigomático-maxilar ocupa a terceira posição dentre as fraturas faciais mais atingidas por injurias, podendo levar a significantes alterações estéticas e funcionais, pois o seu posicionamento apresenta papel importante no contorno facial, no globo ocular além do contorno da proeminência zigomática. Tais fraturas acometem principalmente o sexo masculino sendo decorrentes principalmente de acidentes de trânsito, agressão física e quedas da própria altura. Deste modo é objetivo apresentar o caso de paciente do sexo masculino, 76 anos de idade, feoderma, apresentando ferimento corto-contuso em região de face direita não suturado com histórico de trauma há mais de 24h após dar entrada no Hospital Universitário Maria Aparecida Pedrossian, além de equimose periorbitária a direita, edema importante com presença de oclusão palpebral ipsilateral. Ao exame clínico, observou-se durante a palpação, foi observado degrau em rebordo orbitário direito e parede lateral da órbita e equimose intrabucal a direita, também foi observado a manutenção da acuidade e motilidade ocular. No exame tomográfico foi constatado a fratura do complexo zigomático-maxilar, onde o tratamento proposto foi o conservador da fratura devido a idade do paciente e as comorbidades sistêmicas que apresentava, além de um pedido da família do paciente. Optou-se pelo desbridamento da ferida e a sutura com anestesia local. Ao retorno ambulatorial de uma semana após do desbridamento e a sutura, apresentou uma regressão significativa, uma boa coaptação do ferimento e sem sinais flogísticos ou queixas do paciente, estéticas e/ou funcionais.  Palavras-chave: Traumatologia. Zigoma. Tratamento conservador. Ferimentos e lesões

Ballistic Josephson junctions in edge-contacted graphene

Hybrid graphene-superconductor devices have attracted much attention since the early days of graphene research. So far, these studies have been limited to the case of diffusive transport through graphene with poorly defined and modest quality graphene-superconductor interfaces, usually combined with small critical magnetic fields of the superconducting electrodes. Here we report graphene based Josephson junctions with one-dimensional edge contacts of Molybdenum Rhenium. The contacts exhibit a well defined, transparent interface to the graphene, have a critical magnetic field of 8 Tesla at 4 Kelvin and the graphene has a high quality due to its encapsulation in hexagonal boron nitride. This allows us to study and exploit graphene Josephson junctions in a new regime, characterized by ballistic transport. We find that the critical current oscillates with the carrier density due to phase coherent interference of the electrons and holes that carry the supercurrent caused by the formation of a Fabry-P\'{e}rot cavity. Furthermore, relatively large supercurrents are observed over unprecedented long distances of up to 1.5 $\mu$m. Finally, in the quantum Hall regime we observe broken symmetry states while the contacts remain superconducting. These achievements open up new avenues to exploit the Dirac nature of graphene in interaction with the superconducting state.Comment: Updated version after peer review. Includes supplementary material and ancillary file with source code for tight binding simulation

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches in the Australian and Portuguese setting, using an integrated clinical and molecular strategy. We report variants in the ARX gene detected in 19 patients belonging to 17 families. Seven pathogenic variants, being expansion mutations in both polyalanine tract 1 and tract 2, were identifyed, including a novel mutation in polyalanine tract 1 that expands the first tract to 20 alanines. This precise number of alanines is sufficient to cause pathogenicity when expanded in polyalanine tract 2. Five cases presented a probably non-pathogenic variant, including the novel HGVS: c.441_455del, classified as unlikely disease causing, consistent with reports that suggest that in frame deletions in polyalanine stretches of ARX rarely cause intellectual disability. In addition, we identified five cases with a variant of unclear pathogenic significance. Owing to the inconsistent ARX variants description, publications were reviewed and ARX variant classifications were standardized and detailed unambiguously according to recommendations of the Human Genome Variation Society. In the absence of a pathognomonic clinical feature, we propose that molecular analysis of the ARX gene should be included in routine diagnostic practice in individuals with either nonsyndromic or syndromic intellectual disability. A definitive diagnosis of ARX-related disorders is crucial for an adequate clinical follow-up and accurate genetic counseling of at-risk family members.Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP, Porto, Portugal was funded by FEDER funds of the Operational Program for Competitiveness Factors – COMPETE through FCT – Foundation for Science and Technology under the project: Fcomp-01-0124-FEDER-015896. The Neurogenetics research program in the Department of Paediatrics, University of Adelaide, Australia was funded by the Australian National Health and Medical Research Council (Grant No. 1063025). C. S. is supported Australian Research Council (Future Fellowship FT120100086