Hand Involvement in Ollier Disease and Maffucci Syndrome: a Case Series

Ollier Disease and Maffucci Syndrome are two rare diseases that can cause tumors in several organs, having a special predilection for the hand. However, there have been very few reports in the literature focusing on hand manifestations of these diseases. We report the cases of three female patients: one with Ollier Disease, and two other with Maffucci Syndrome. All patients had hand involvement as their initial primary complaint. The Ollier Disease patient developed chondrosarcomas of two digits and had to have these fingers amputated. One of the Maffucci patients died one year after presentation from a brain glioblastoma. These cases emphasize the importance of early diagnosis of Ollier Disease and Maffucci Syndrome, as these two conditions are associated not only to crippling hand deformity, but also to a significant risk of chondrosarcoma, and other malignant tumors

A 63-Year-Old Woman Presenting with a Synovial Sarcoma of the Hand: a Case Report

INTRODUCTION: Synovial sarcoma is a high-grade, soft-tissue sarcoma that most frequently is located in the vicinity of joints, tendons or bursae, although it can also be found in extra-articular locations. Most patients with synovial sarcoma of the hand are young and have a poor prognosis, as these tumors are locally aggressive and are associated with a relatively high metastasis rate. According to the literature, local recurrence and/or metastatic disease is found in nearly 80% of patients. Current therapy comprises surgery, systemic and limb perfusion chemotherapy, and radiotherapy. However, the 5-year survival rate is estimated to be only around 27% to 55%. Moreover, most authors agree that synovial sarcoma is one of the most commonly misdiagnosed malignancies of soft tissues because of their slow growing pattern, benign radiographic appearance, ability to change size, and the fact that they may elicit pain similar to that caused by common trauma. CASE PRESENTATION: We describe an unusual case of a large synovial sarcoma of the hand in a 63-year-old Caucasian woman followed for 12 years by a multidisciplinary team. In addition, a literature review of the most pertinent aspects of the epidemiology, diagnosis, treatment and prognosis of these patients is presented. CONCLUSION: Awareness of this rare tumor by anyone dealing with hand pathology can hasten diagnosis, and this, in turn, can potentially increase survival. Therefore, a high index of suspicion for this disease should be kept in mind, particularly when evaluating young people, as they are the most commonly affected group

Anemia grave como apresentação de linfoma T Angioimunoblástico : um caso clínico

Introdução: O linfoma T Angioimunoblástico é uma entidade rara, que representa 1 a 2% dos linfomas não Hodgkin, com envolvimento sistémico associado a fenómenos auto-imunes.1,2 Caracteriza-se por um comportamento agressivo e clinicamente por uma apresentação súbita de sintomas constitucionais, adenomegálias generalizadas, hepatoesplenomegália, anemia e hipergamaglobulinemia.2 Objetivos: Partilhar apresentação de um caso clínico de Linfoma T Angioimunoblástico e suas particularidades transfusionais. Métodos: Observação, exame objectivo e recolha de história clínica junto da doente. Consulta de registos clínicos no programa Sorian e recolha de dados analíticos relevantes nos programas WebAppolo, ASIS e registos de estudos pré-transfusionais realizados no SSMT. Recolha de dados, telefonicamente, junto do IPST, relativamente aos estudos pré-transfusionais realizados no mesmo. Resultados: Doente do sexo feminino, 72 anos, autónoma, sem antecedentes transfusionais, apresentava em consulta de ambulatório queixas de dor abdominal difusa, com três dias de evolução, sem alterações do trânsito intestinal. Exame objectivo sem alterações relevantes. Analiticamente apresentava Hb 11.1 g/dL. Realizou TC abdominal que mostrou “expressão quística parapiélica bilateral, adenomegálias ileo-pélvicas, pequenas adenopatias periaórticas e densificação retroperitoneal”. Duas semanas mais tarde inicia quadro de cansaço para pequenos esforços, associado a anorexia, perda de peso e palidez cutânea, pelo que recorre ao Serviço de Urgência. Apresentava-se hemodinamicamente estável, pálida, com sudorese, apirética, polipneica. Sat O2-97% com 2L/min de O2. Ligeira dor à palpação abdominal nos quadrantes inferiores, sem defesa. Analiticamente: Hb 3.1 g/dL normocitica/normocrómica. Não reunia critérios de anemia hemolítica. Foram requisitadas duas Unidades (U) de Concentrado Eritrocitário (CE). No estudo pré-transfusional, método em gel, encontrou-se: PAI positiva – Poliaglutinação (3+) tanto em meio de LISS/Coombs como enzimático. TAD positivo (Poliespecífico 4+; Monoespecíficos - IgG 4+; IgM 3+; C3c 3+; C3d 4+; Título de IgG 1:100); Provas de compatibilidade (PC), com várias unidades de CE, positivas (de pelo menos 2+) . Foi decidido protelar a transfusão por estabilidade hemodinâmica da doente. No dia seguinte por valor de Hb 2.6g/dL e agravamento do estado clínico, realizou, após administração de Hidrocortisona 200 mg e Clemastina 2mg, transfusão de 1 U de CE compatibilizada no IPST (PC positiva 1+, método em tubo). A transfusão decorreu sem intercorrências, no controlo pós-transfusional (CPT) - Hb 4.0g/dL, com melhoria franca da sintomatologia. Inicia corticoterapia (Prednisolona 1 mg/Kg/dia). Foi de novo transfundida dois dias mais tarde, Hb 3,7 g/dL, tendo sido enviada Unidade do (1U CE - IPST - PC negativa) . Não se registaram intercorrências, CPT - Hb 5.4g/dL. Após 8 dias de Internamento, e a realização de diversos MCDTs foi diagnosticado um Linfoma T Angioimunoblástico. Conclusão: O Linfoma T Angioimunoblástico pode apresentar-se com um quadro clínico inicial de anemia grave, de instalação rápida, que pelas suas características imunologicas, pode obrigar ao adiamento da transfusão. REFERÊNCIAS BIBLIOGRÁFICAS 1- Zão, I., Dias, M., Castro, M., Coutinho, R., Cabral, R., Regadas, L., Casais, C., Xavier, L., Gonçalves, C., Mota, A., Pinho, L., Coutinho, J., . Manifestações auto-imunes do linfoma T angioimunoblástico . , 2017, Reunião Anual SPH, PO47 2- Xu, B., Liu. P., No Survival Improvement for Patients with Angioimmunoblastic T-Cell Lymphoma over the Past Two Decades: A Population-Based Study of 1207 Cases, 2014, PLOS ONE, Volume 9, Issue 3; e92585info:eu-repo/semantics/publishedVersio

NOD2 gene mutations in ulcerative colitis: useless or misunderstood?

PURPOSE: NOD2 mutations have been linked to an increased risk of Crohn's disease and to some of its phenotypes. The association between NOD2 mutations and susceptibility to ulcerative colitis (UC) remains somewhat controversial and potential correlations between these mutations and UC phenotype have not been studied. AIM: To assess whether NOD2 mutations are a risk factor for UC in Portugal and if there are any genotype-phenotype correlations in these patients. METHODS: The three main NOD2 mutations were searched in 200 patients with UC and in 202 healthy controls. RESULTS: NOD2 mutations were present in 28 patients with UC (14.0 %) and in 27 controls (13.4 %) (p = 0.853). Mutation carriers were more likely to receive steroids during the first year of disease than non-carriers (54.2 % vs. 29.6 %, p = 0.018) and among these patients the need for intravenous administration was more frequent in those with the R702W polymorphism (90.0 % vs. 45.5 %, p = 0.014). In patients with severe colitis admitted for intravenous steroids, a greater proportion of mutation carriers was considered intravenous-steroid refractory and required salvage therapy (90.0 % vs. 38.1 %, p = 0.004). Patients with NOD2 mutation were submitted to colectomy more frequently than non-carriers (17.9 % vs. 4.1 %. p = 0.015). No correlation with the need for immunosuppressants/immunomodulators was found. CONCLUSIONS: In the Portuguese population, NOD2 mutations do not increase the risk of UC but are associated with a more aggressive course including greater need of steroids in the first year, increased incidence of intravenous-steroid refractoriness and a higher colectomy rate

Investigacion en enfermeria: Brasil y Portugal en la construccion de la identidad profesional

Objective: to investigate the construction of professional identity in Brazilian and Portuguese nursing research, according to the perception of their researchers, adopting Gaston Bachelard as a theoretical framework. Method: descriptive and exploratory research, with a qualitative approach, undertaken in Brazil and Portugal. Semistructured interviews were held with 17 nurse researchers from both countries, with experience in scientific research and doctorates and/or post-doctorates. Analysis of the data was undertaken in the following order: exploratory phase, selection of the units of meaning and process of codification of the units of analysis, with the respective construction of aprioristic categories. Results: two categories emerged for discussion: object and lines of research in nursing; and the political attitude of the researchers. Conclusion: the weak points in the construction of the professional identity need to be broken with, based on the undertaking of experimental investigations, with immediate responses for the health services and which meet the social requirements. Professional satisfaction is the best advertisement for the profession. Through professional qualification in nursing it will be possible to occupy better positions and undertake the role of leadership and the political attitude with greater apprpriateness.Objetivo: compreender a construção da identidade profissional na pesquisa em enfermagem de Brasil e de Portugal segundo a percepção de seus pesquisadores, adotando-se Gaston Bachelard como referencial teórico. Método: pesquisa descritiva, exploratória, de abordagem qualitativa, realizada no Brasil e Portugal. Adotou-se entrevista semiestruturada com 17 enfermeiros pesquisadores de ambos os países, com experiência em pesquisa científica e título de doutorado e/ou pós-doutorado. A análise dos dados obedeceu a seguinte ordem: fase exploratória, seleção das unidades de significado e processo de codificação das unidades de análise com a respectiva construção de categorias não-apriorísticas. Resultados: emergiram duas categorias para discussão: Objeto e linhas de pesquisa em enfermagem; e, Atitude política dos pesquisadores. Conclusão: as fragilidades na construção da identidade profissional precisam ser rompidas a partir do desenvolvimento de investigações experimentais, com respostas imediatas aos serviços de saúde e que atendam às demandas sociais. Profissional satisfeito é o maior marketing da profissão. Por meio da qualificação profissional na enfermagem será possível ocupar melhores cargos e desenvolver com maior propriedade o papel de liderança e a atitude política.percepción de sus investigadores, adoptándose Gaston Bachelard como referencial teórico. Método: investigación descriptiva, exploratoria, de abordaje cualitativo, realizado en Brasil y Portugal. Se adoptó entrevista semiestructurada con 17 enfermeros investigadores de ambos países, con experiencia en investigación científica y titulo de doctorado y/o post-doctorado. El análisis de los datos obedeció el siguiente orden: fase exploratoria, selección de las unidades de significado y proceso de codificación de las unidades de análisis con la respectiva construcción de categorías no apriorísticas. Resultados: emergieron dos categorías para discusión: Objeto y líneas de investigación en enfermería y; actitud política de los investigadores. Conclusión: las fragilidades en la construcción de la identidad profesional precisan ser rotas a partir del desarrollar de investigaciones experimentales, con respuestas inmediatas a los servicios de salud y que atiendan a las demandas sociales. Profesional satisfecho es el mayor marketing de la profesión Por medio de la calificación profesional en enfermería será posible ocupar mejores cargos y desarrollar con mayor propiedad el papel de liderazgo y la actitud política.info:eu-repo/semantics/publishedVersio

Violence Against the Elderly: Social Representations of Portuguese and Brazilian Caregivers

The increase in life expectancy and elderly people in society, coupled with changes in family structure, have highlighted the importance of formal and informal caregivers of elderly people. Objective: To analyse the social representations of violence against the elderly, of two groups of formal and informal caregivers. Methods: Exploratory, quantitative and qualitative research, supported by the theoretical-methodological reference of the Social Representations Theory and in the context of this, the Central Core Theory. The sample was participated in by 81 formal caregivers from the project “Aging in Safety in the Alentejo - Understanding to Act, of the University of Évora” and 20 informal caregivers from the project “Qualification of caregivers and aspects related to the quality of life of the elderly people dependent on primary and tertiary care: Implementation and protocol evaluation, of the State University of Southwest of Bahia”. We used the Free Word Association Technique. The data was analysed by prototypical analysis based on two matrices by the software IRAMUTEQ (Interface de R pour les Analyses Multidimensionnelles de Textes et de Questionnaires) 0.7 alpha 2. Results: In Portugal, the elements “bad, mistreatment, I will be, sad, anger, patience, physical, injustice, irritation and meanness” stood out in the central core. In Brazil the mention of “hitting” was emphasized. Conclusions: In both Portugal and Brazil, physical violence takes on particular significance in the social representations of caregivers, rather than verbal and psychological violence, which is not present in the central core of social representations of violence against the elderly in either of the countries

Noncompaction Cardiomyopathy. A Review of Eight Cases

A miocardiopatia não compactada isolada é uma doença geneticamente determinada cuja patogénese parece envolver uma paragem no desenvolvimento do endomiocárdio. Morfologicamente caracteriza-se pela presença de trabeculações proeminentes separadas por profundos recessos preenchidos por fluxo e como tal por Doppler a cor no estudo ecocardiográfico. No sentido de melhor caracterizar esta entidade recentemente descrita, de prognóstico pouco esclarecido, fazemos uma revisão dos casos diagnosticados no nosso hospital, descrevendo as características clínicas, electrocardiográficas e ecocardiográficas, bem como a terapêutica instituída e seguimento clínico. A propósito da revisão dos casos, é feita uma exposição e discussão da literatura mais relevante relativamente a etiopatogenia, clínica, critérios de diagnóstico, terapêutica e prognóstico

Transcriptome changes in newborn goats' skeletal muscle as a result of maternal feed restriction at different stages of gestation

We investigated how feed restriction at 50% of maintenance requirements during different stages of gestation affects the transcriptome of newborn goats' skeletal muscle. Fourteen pregnant dams were randomly assigned into one of the following dietary treatments: animals fed at 50% of maintenance requirement from 8-84 d of gestation and then fed at 100% of maintenance requirement from day 85 of gestation to parturition (RM, n = 6), and animals fed at 100% of maintenance requirement from 8-84 d of gestation and then fed at 50% of maintenance requirement from day 85 of gestation to parturition (MR, n = 8). At birth, samples of offspring's Longissimus muscle were collected for total RNA extraction and sequencing. Our data showed 66 differentially expressed (DE) genes (FDR < 0.05). A total of 6 genes were upregulated and 60 downregulated (FDR < 0.05) in the skeletal muscle of the newborns resulting from treatment RM compared with MR. Our results suggest that the DE genes upregulated in newborn goats' skeletal muscle from the RM group compared to MR, included genes related to satellite cells, and genes that indicates impaired insulin sensitivity and changes in the composition of intramuscular fat. The DE genes upregulated in newborn goats' skeletal muscle from the MR group compared to RM, are also related to impaired insulin sensitivity, as well as a predominantly oxidative metabolism and cellular oxidative stress. However, protective mechanisms against insulin sensitivity and oxidative stress may have been augmented in the skeletal muscle of offspring from MR treatment compared to RM, in order to maintain cellular homeostasis

Reconstruction of a Long Defect of the Ulnar Artery and Nerve with an Arterialized Neurovenous Free Flap in a Teenager: A Case Report and Literature Review

There is evidence that nerve flaps are superior to nerve grafts for bridging long nerve defects. Moreover, arterialized neurovenous flaps (ANVFs) have multiple potential advantages over traditional nerve flaps in this context. This paper describes a case of reconstruction of a long defect of the ulnar artery and nerve with an arterialized neurovenous free flap and presents a literature review on this subject. A 16-year-old boy sustained a stab wound injury to the medial aspect of the distal third of his right forearm. The patient was initially observed and treated at another institution where the patient was diagnosed with a flexor carpis ulnaris muscle and an ulnar artery section. The artery was ligated and the muscle was sutured. Four months later, the patient was referred to our institution with complaints of ulnar nerve damage, as well as hand pain and cold intolerance. Physical examination and ancillary tests supported the diagnosis of ulnar artery and nerve complete section. Surgery revealed an 8 cm hiatus of the ulnar artery and a 5 cm defect of the ulnar nerve. These gaps were bridged with a flow through ANVF containing the sural nerve and the lesser saphenous vein. The postoperative course was uneventful. Two years postoperatively, the patient had regained normal trophism and M5 strength in all previously paralyzed muscles according to the Medical Research Council Scale. Thermography revealed good perfusion in the right ulnar angiosome. The ANVF may be an expedite, safe and efficient option to reconstruct a long ulnar nerve and artery defect.info:eu-repo/semantics/publishedVersio

Fluorescence-Based Methods for Detecting Caries Lesions: Systematic Review, Meta-Analysis and Sources of Heterogeneity

Background Fluorescence-based methods have been proposed to aid caries lesion detection. Summarizing and analysing findings of studies about fluorescence-based methods could clarify their real benefits. Objective We aimed to perform a comprehensive systematic review and meta-analysis to evaluate the accuracy of fluorescence-based methods in detecting caries lesions. Data Source Two independent reviewers searched PubMed, Embase and Scopus through June 2012 to identify papers/articles published. Other sources were checked to identify non-published literature. Study Eligibility Criteria, Participants and Diagnostic Methods The eligibility criteria were studies that: (1) have assessed the accuracy of fluorescence-based methods of detecting caries lesions on occlusal, approximal or smooth surfaces, in both primary or permanent human teeth, in the laboratory or clinical setting; (2) have used a reference standard; and (3) have reported sufficient data relating to the sample size and the accuracy of methods. Study Appraisal and Synthesis Methods A diagnostic 2×2 table was extracted from included studies to calculate the pooled sensitivity, specificity and overall accuracy parameters (Diagnostic Odds Ratio and Summary Receiver-Operating curve). The analyses were performed separately for each method and different characteristics of the studies. The quality of the studies and heterogeneity were also evaluated. Results Seventy five studies met the inclusion criteria from the 434 articles initially identified. The search of the grey or non-published literature did not identify any further studies. In general, the analysis demonstrated that the fluorescence-based method tend to have similar accuracy for all types of teeth, dental surfaces or settings. There was a trend of better performance of fluorescence methods in detecting more advanced caries lesions. We also observed moderate to high heterogeneity and evidenced publication bias. Conclusions Fluorescence-based devices have similar overall performance; however, better accuracy in detecting more advanced caries lesions has been observed