Browsing by Author "Guimarães, J."
Now showing 1 - 9 of 9
Results Per Page
Sort Options
- Cerebellar ataxia with spasmodic cough: a new form of dominant ataxiaPublication . Coutinho, P.; Cruz, V.; Tuna, A.; Silva, S.; Guimarães, J.Background: Although mentioned in most series, “pure” autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds. Objective: To describe Portuguese families with a peculiar pure form of dominant ataxia that, to our knowledge, has never been documented before and in which cerebellar signs are preceded by spasmodic cough. Patients: Through a population-based survey of hereditary ataxias in Portugal, we identified 19 patients in 6 families with this particular disorder. Results: The majority of patients had a pure late-onset ataxia with a benign evolution. In all of the families, attacks of spasmodic coughing preceded ataxia for 1 to 3 decades and were a reliable marker of the disease. In Portugal, this form of ataxia accounts for 2.7% of all of the dominant ataxias. Conclusions: The families that we describe shared some relevant clinical and imagiological features with spinocerebellar ataxia type 5 and the recently described spinocerebellar ataxia type 20, allelic to spinocerebellar ataxia type 5. Spinocerebellar ataxia types 5 and 20 could be different phenotypic expressions of the same molecular disorder. The association of a dominant ataxia with spasmodic cough is rare but probably underdiagnosed.
- Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias: Analysis of 106 Patients in 46 FamiliesPublication . Coutinho, P.; Barros, J.; Zemmouri, R.; Guimarães, J.; Alves, C.; Chorão, R.; Lourenço, E.; Ribeiro, P.; Loureiro, J.; Santos, J.; Hamri, A.; Paternotte, C.; Hazan, J.; Silva, M.; Prud'homme, F.; Grid, D.Background Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition. Objective To analyze the clinical presentation in a large group of patients with autosomal recessive HSP from Portugal and Algeria to define homogeneous groups that could serve as a guide for future molecular studies. Results Clinical features in 106 patients belonging to 46 Portuguese and Algerian families with autosomal recessive HSP are presented, as well as the results of molecular studies in 23 of these families. Five phenotypes are defined: (1) pure early-onset families, (2) pure late-onset families, (3) complex families with mental retardation, (4) complex families with mental retardation and peripheral neuropathy, and (5) complex families with cerebellar ataxia. Six additional families have specific complex presentations, each of which is unique in the present series. Pyramidal signs in the upper limbs and pes cavus are frequent findings, while pseudobulbar signs, including dysarthria, dysphagia, and brisk jaw jerks, are more frequent in the complex forms. The complex forms have a poorer prognosis, while pure forms, particularly those with early onset, are more benign. One Algerian pure early-onset kindred was linked to the locus on chromosome 8, previously reported in 4 Tunisian families. Two of the Portuguese kindreds with complex forms (one with mental retardation and the other associated with hypoplasia of the corpus callosum) showed linkage to the locus recently identified on chromosome 16. Conclusions Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.
- Effects of Acupuncture on Leucopenia, Neutropenia, NK, and B Cells in Cancer Patients: A Randomized Pilot StudyPublication . Pais, I.; Correia, N.; Pimentel, I.; Teles, M.; Neves, E.; Vasconcelos, J.; Guimarães, J.; Azevedo, N.; Moreira-Pinto, A.; Machado, J.; Efferth, T.; Greten, H.Chemotherapy is one of most significant therapeutic approaches to cancer. Immune system functional state is considered a major prognostic and predictive impact on the success of chemotherapy and it has an important role on patients' psychoemotional state and quality of life. In Chinese medicine, chemotherapy is understood as "toxic cold" that may induce a progressive hypofunctional state of immune system, thus compromising the fast recovery of immunity during chemotherapy. In this study, we performed a standardized acupuncture and moxibustion protocol to enhance immunity in cancer patients undergoing chemotherapy and to assess if the improvement of immunity status correlates with a better psychoemotional state and quality of life.
- Endocrinology in Portugal - Census 2016. Board of the Portuguese College of Endocrinology and Nutrition of the Portuguese Medical AssociationPublication . Guimarães, J.; Afonso, A.; Carvalho, D.; Marques, A.; Martins, T.; Mascarenhas, M.; Pereira, C.; Rodrigues, D.; Saraiva, C.; Cardoso, H.INTRODUCTION: On September 2016, the Board of the College of Endocrinology and Nutrition of the Portuguese Medical Association carried out a national survey, about all Endocrinology, Diabetes and Metabolism Departments of the public hospitals included in the Portuguese National Health Service and a simplified version of this survey was sent to all endocrinologists working in Portugal and registered with the Portuguese Medical Association. MATERIAL AND METHODS: Data related to organizational and human resources were collected, reporting the situation by the end of year 2015. The census registered 107 individuals and 27 Departments. RESULTS: The ratio of endocrinologists-population was 1.4, much lower than in the other European countries (varies between 2 to 4), resulting in alarming shortages of services in some areas of Portugal and in worse quality indicators. DISCUSSION: These data suggest that actions should be taken to increase the number of endocrinologists and departments in the country. CONCLUSION: In recent years, the number of residents has significantly increased, which will make it possible to correct this situation
- Home-based Rehabilitation With A Novel Digital Biofeedback System versus Conventional In-person Rehabilitation after Total Knee Replacement: a feasibility studyPublication . Correia, F.; Nogueira, A.; Magalhães, I.; Guimarães, J.; Moreira, M.; Barradas, I.; Teixeira, L.; Tulha, J.; Seabra, R.; Lains, J.; Bento, V.In-person home-based rehabilitation and telerehabilitation can be as effective as clinic-based rehabilitation after total knee arthroplasty (TKA), but require heavy logistics and are highly dependent on human supervision. New technologies that allow independent home-based rehabilitation without constant human supervision may help solve this problem. This was a single-center, feasibility study comparing a digital biofeedback system that meets these needs against conventional in-person home-based rehabilitation after TKA over an 8-week program. Primary outcome was the change in the Timed Up and Go score between the end of the program and baseline. Fifty-nine patients completed the study (30 experimental group; 29 conventional rehabilitation). The study demonstrated a superiority of the experimental group for all outcomes. Adverse events were similar in both groups. This is the first study to demonstrate that a digital rehabilitation solution can achieve better outcomes than conventional in-person rehabilitation, while less demanding in terms of human resources.
- Pancitopenia num lactentePublication . Contreiras, M.; Vieira, F.; Santos, C.; Guimarães, J.Introdução: No lactente a causa mais frequente de deficiência de cobalamina é a carência alimentar da mãe, e geralmente em crianças em aleitamento materno exclusivo. As manifestações clínicas nos primeiros meses de vida, incluem, irritabilidade, má progressão estaturoponderal, apatia e anorexia, bem como manifestações neurológicas como hipotonia e regressão no desenvolvimento psicomotor. Caso clínico: Apresenta-se um caso de anemia megaloblástica por défice de cobalamina num lactente com sete meses de idade em aleitamento materno exclusivo. Um mês antes do internamento apresentava apatia e regressão no desenvolvimento psicomotor, a que mais tarde se associou palidez cutânea. A avaliação laboratorial evidenciou pancitopenia com anemia grave. Conclusão: A idade de início precoce e a longa duração dos sintomas neurológicos podem contribuir para a persistência de sintomas a longo prazo, sendo por isso fundamentais o diagnóstico e tratamento precoces. ABSTRACT Introduction: The most common cause of cobalamin deficiency in infants is dietary deficiency in the mother, usually in those children who are exclusively breastfed. In the first months of life, the clinical manifestations of cobalamin deficiency include irritability, failure to thrive, apathy, anorexia, and neurological manifestations such as hypotonia or developmental regression. Case report: We report a case of megaloblastic anaemia due to cobalamin deficiency in a seven-month-old girl who was exclusively breastfed. One month before being admitted she started apathy and developmental regression, later associated with pallor. Laboratory findings showed pancytopenia with severe anaemia. Conclusions: The early age of onset and long duration of neurological symptoms may contribute to the development of long-term symptoms, so early diagnosis and treatment are of extreme importance.
- A Prediction Rule to Stratify Mortality Risk of Patients with Pulmonary TuberculosisPublication . Bastos, H.; Osório, N.; Castro, A.; Ramos, A.; Carvalho, T.; Meira, L.; Araújo, D.; Almeida, L.; Boaventura, R.; Fragata, P.; Chaves, C.; Costa, P.; Portela, M.; Ferreira, I.; Magalhães, S.; Rodrigues, F.; Sarmento-Castro, R.; Duarte, R.; Guimarães, J.; Saraiva, M.Tuberculosis imposes high human and economic tolls, including in Europe. This study was conducted to develop a severity assessment tool for stratifying mortality risk in pulmonary tuberculosis (PTB) patients. A derivation cohort of 681 PTB cases was retrospectively reviewed to generate a model based on multiple logistic regression analysis of prognostic variables with 6-month mortality as the outcome measure. A clinical scoring system was developed and tested against a validation cohort of 103 patients. Five risk features were selected for the prediction model: hypoxemic respiratory failure (OR 4.7, 95% CI 2.8-7.9), age ≥50 years (OR 2.9, 95% CI 1.7-4.8), bilateral lung involvement (OR 2.5, 95% CI 1.4-4.4), ≥1 significant comorbidity-HIV infection, diabetes mellitus, liver failure or cirrhosis, congestive heart failure and chronic respiratory disease-(OR 2.3, 95% CI 1.3-3.8), and hemoglobin <12 g/dL (OR 1.8, 95% CI 1.1-3.1). A tuberculosis risk assessment tool (TReAT) was developed, stratifying patients with low (score ≤2), moderate (score 3-5) and high (score ≥6) mortality risk. The mortality associated with each group was 2.9%, 22.9% and 53.9%, respectively. The model performed equally well in the validation cohort. We provide a new, easy-to-use clinical scoring system to identify PTB patients with high-mortality risk in settings with good healthcare access, helping clinicians to decide which patients are in need of closer medical care during treatment.
- QUAIS OS PROCEDIMENTOS ADOPTADOS PELO TERAPEUTA DA FALA NA REABILITAÇÃO/HABILITAÇÃO DA PESSOA SUBMETIDA A CORDECTOMIA ENDOSCÓPICA?Publication . Guimarães, J.; Faria, P.QUAIS OS PROCEDIMENTOS ADOPTADOS PELO TERAPEUTA DA FALA NA REABILITAÇÃO/HABILITAÇÃO DA PESSOA SUBMETIDA A CORDECTOMIA ENDOSCÓPICA? Joana Guimarães1, Paula Faria2 1Curso de Licenciatura em Terapia da Fala, 2ESTSP/IPP. Escola Superior de Tecnologias da Saúde do Porto, Instituto Politécnico do Porto (ESTSP/IPP), Porto. Hospital de Santo António, Centro Hospitalar do Porto (HSA/CHP), Porto. Introdução O tratamento do carcinoma glótico envolve a ressecção de estruturas anatómicas, o que se repercute, em maior ou menor grau, em termos fisiológicos. No caso de uma cordectomia, as principais alterações são verificadas ao nível da qualidade vocal da pessoa e, dependendo da técnica adoptada e das estruturas ressecadas, podem igualmente ser verificadas alterações ao nível da deglutição, aspectos justificativos do acompanhamento ao nível da Terapia da Fala. Objectivos Este estudo pretende averiguar quais os procedimentos adoptados pelo Terapeuta da Fala na reabalitação/habilitação da pessoa submetida a cordectomia endoscópica a laser de dióxido de carbono (CO2) com base nos que são adoptados no processo interventivo pós-cordectomia endoscópica instrumental. Material e Métodos Para tal foi realizada uma entrevista ao Terapeuta da Fala do serviço de Otorrinolaringologia do Hospital de Santo António, bem como foram recolhidos dados dos processos clínicos de dois sujeitos relativamente à anamnese, às avaliações e à intervenção ao nível da Terapia da Fala. Resultados Os resultados deste estudo revelaram que os procedimentos adoptados na reabalitação/habilitação da pessoa submetida a cordectomia endoscópica a laser de CO2 ou à técnica instrumental são semelhantes, diferindo principalmente devido a questões individuais de cada sujeito e não tanto ao procedimento cirúrgico adoptado. Apresentador: Joana Daniela Pereira Guimarães, Aluna do Curso de Licenciatura em Terapia da Fala, ESTSP/IPP. joanaguian@hotmail.com
- Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.Publication . Moreira, M.C.; Klur, S.; Watanabe, M.; Németh, A.H.; Le Ber, I.; Moniz, J.C.; Tranchant, C.; Aubourg, P.; Tazir, M.; Schöls, L.; Pandolfo, M.; Schulz, J.B.; Pouget, J.; Calvas, P.; Shizuka-Ikeda, M.; Shoji, M.; Tanaka, M.; Izatt, L.; Shaw, C.E.; M'Zahem, A.; Dunne, E.; Bomont, P.; Benhassine, T.; Bouslam, N.; Stevanin, G.; Brice, A.; Guimarães, J.; Mendonça, P.; Barbot, C.; Coutinho, P.; Sequeiros, J.; Dürr, A.; Warter, J.M.; Koenig, M.Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M. IGBMC (Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, ULP) 67404 Illkirch, C.U. de Strasbourg, France. Abstract Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination. PMID: 14770181 [PubMed - indexed for MEDLINE]