Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 21
Filtrar
1.
Eur J Hum Genet ; 29(10): 1520-1526, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34267336

RESUMO

A subset of families with co-dominant or recessive inheritance has been described in several genes previously associated with dominant inheritance. Those recessive families displayed similar, more severe, or even completely different phenotypes to their dominant counterparts. We report the first patients harboring homozygous disease-related variants in three genes that were previously associated with dominant inheritance: a loss-of-function variant in the CACNA1A gene and two missense variants in the RET and SLC20A2 genes, respectively. All patients presented with a more severe clinical phenotype than the corresponding typical dominant form. We suggest that co-dominant or recessive inheritance for these three genes could explain the phenotypic differences from those documented in their cognate dominant phenotypes. Our results reinforce that geneticists should be aware of the possible different forms of inheritance in genes when WES variant interpretation is performed. We also evidence the need to refine phenotypes and inheritance patterns associated with genes in order to avoid failures during WES analysis and thus, raising the WES diagnostic capacity in the benefit of patients.


Assuntos
Canais de Cálcio/genética , Genes Dominantes , Mutação com Perda de Função , Fenótipo , Proteínas Proto-Oncogênicas c-ret/genética , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/genética , Adulto , Alelos , Feminino , Humanos , Recém-Nascido , Masculino , Linhagem
2.
Rev Neurol ; 69(3): 99-108, 2019 Aug 01.
Artigo em Espanhol | MEDLINE | ID: mdl-31309999

RESUMO

INTRODUCTION: The Toe Walking Tool (TWT) is a clinical screening instrument which helps in the differentiation of children with normal development, idiopathic toe-walking or toe-walking due to a medical cause. AIM: To carry out the translation and cross-cultural adaptation of the TWT for the Spanish pediatric population and to evaluate its content validity. SUBJECTS AND METHODS: This paper was carried out following an inverted method of translation and back-translation. Once the pre-final Spanish version was obtained, its analysis was conducted through the Delphi method by a panel of experts. The content validity of the tool explores its clarity, viability, applicability and usefulness. RESULTS: An expert panel composed by 15 professionals determine the content validity of the Spanish version of the TWT. The questionnaire translated and adapted transculturally into Spanish presented an excellent global content validity index (0.94) and the expert committee considered that the scale was easily understandable, viable, simple to apply and useful in the pediatric setting. CONCLUSIONS: The Spanish version of the TWT presents an excellent content validity and is an understandable, viable, simple and useful assessment tool. It is necessary to carry out future studies to analyze its psychometric properties with a Spanish pediatric population.


TITLE: Traduccion y adaptacion transcultural de la Toe Walking Tool: herramienta para el cribado de la marcha de puntillas.Introduccion. La Toe Walking Tool (TWT) es una herramienta clinica de cribado que permite discriminar a los niños con desarrollo normal de los que presentan marcha de puntillas idiopatica o marcha de puntillas de origen medico. Objetivo. Realizar la traduccion y adaptacion transcultural de la TWT para la poblacion infantil española y evaluar su validez de contenido. Sujetos y metodos. El proceso se realizo segun el metodo invertido de traduccion-retrotraduccion. Una vez obtenida la version prefinal en castellano, se llevo a cabo su analisis mediante el metodo Delphi por parte de un panel de expertos para analizar su validez de contenido, asi como la comprension, viabilidad, aplicabilidad y utilidad de la herramienta. Resultados. Se constituyo un panel de expertos compuesto por 15 profesionales que determinaron la validez de contenido de la version española de la TWT. El cuestionario traducido y adaptado transculturalmente al castellano presento un indice de validez de contenido global excelente (0,94). A traves del metodo Delphi se determino que la escala era comprensible, viable, de aplicacion sencilla y util en el ambito pediatrico. Conclusiones. La version en castellano de la TWT presenta una excelente validez de contenido y se considera un instrumento comprensible, viable, sencillo y util con aplicacion en la poblacion pediatrica española. En futuros estudios resulta necesario analizar sus caracteristicas psicometricas en niños con marcha de puntillas.


Assuntos
Análise da Marcha/métodos , Programas de Rastreamento/métodos , Inquéritos e Questionários , Dedos do Pé , Caminhada/fisiologia , Pré-Escolar , Características Culturais , Técnica Delphi , Humanos , Lactente , Espanha , Traduções
3.
Clin Transl Oncol ; 21(12): 1781-1785, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31209792

RESUMO

INTRODUCTION: Our aim was to assess efficacy and safety and prognostic factors associated with TAS-102 in clinical practice. METHOD: Retrospective, multicenter, and observational study including patients with advanced refractory colorectal cancer who started TAS-102 between March 2016 and August 2018. The primary end point was overall survival (OS). Secondary end points included progression-free survival, toxicity and analyze prognostic factors present at the beginning of TAS-102. RESULT: 84 patients were evaluable. The median OS was 8.30 (95% CI 6.23-9.87) months and PFS was 2.62 (95% CI 2.36-3.05) months. In multivariate analysis, ECOG 0 and reduced dose combined with more cycles were associated with better prognosis. Patients with an ECOG > 0 had worse prognosis (HR 3.34, 95% CI 1.09-10.27, p = 0.035). 95.2% experienced some type of adverse effect and 45.2% had grade ≥ 3 toxicities. CONCLUSION: Results suggest reconsidering TAS-102 in patients with ECOG > 0, something that should be investigated in prospective randomized clinical trials.


Assuntos
Neoplasias do Colo/tratamento farmacológico , Pirrolidinas/uso terapêutico , Neoplasias Retais/tratamento farmacológico , Trifluridina/uso terapêutico , Uracila/análogos & derivados , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias do Colo/mortalidade , Neoplasias do Colo/patologia , Esquema de Medicação , Combinação de Medicamentos , Estudos de Viabilidade , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Intervalo Livre de Progressão , Pirrolidinas/efeitos adversos , Neoplasias Retais/mortalidade , Neoplasias Retais/patologia , Estudos Retrospectivos , Índice de Gravidade de Doença , Timina , Resultado do Tratamento , Trifluridina/efeitos adversos , Uracila/efeitos adversos , Uracila/uso terapêutico
4.
Med. infant ; 23(1): 48-53, Marzo 2016. ilus
Artigo em Espanhol | LILACS | ID: biblio-881867

RESUMO

Los globos de látex de caucho natural y los guantes de examinación del mismo material inflados como globos, que se entregan a los pacientes para aliviar el estrés de la atención sanitaria en las instituciones de salud tanto públicas como privadas, pueden provocar reacciones de hipersensibilidad de tipo I y son una de las causas más comunes de aspiración fatal. La suelta de globos contaminan el ambiente y agravan la extinción de la fauna y de la vida marina. Los pacientes sensibilizados o alérgicos al látex que participan en los festejos donde se utilizan globos de látex corren el riesgo de una reacción anafiláctica, potencialmente fatal. Aconsejarles no concurrir a dichos eventos, implica impedirles el disfrute de las actividades recreativas que es un derecho de la infancia manifestado en la Declaración de los Derechos del Niño. Muchos hospitales de países desarrollados ya cuentan con una política de prohibición de los globos de látex en sus instituciones, que podría replicarse en nuestro medio por las ventajas que conlleva y su muy bajo costo de implementación (AU)


Natural rubber latex balloons and examining gloves of the same material blown up as balloons to entertain patients to alleviate the stress of care at public and private health institutions, may cause reactions of type-1 hypersensitivity and are the most common cause of fatal asphyxia. Balloons that are released up into the air contaminate the environment and aggravate the extinction of fauna and marine life. Patients who are sensitized or allergic to latex and participate in celebrations in which latex balloons are used are at risk of a potentially fatal anaphylactic reaction. To advise them not to participate in these events means to stop them from enjoying recreational activities which is a right manifested in the Declaration of the Rights of the Child. In many hospitals in developed countries a policy of prohibition of latex gloves is already in place. This prohibition may be replicated in our environment considering its advantages and very low cost of implementation (AU)


Assuntos
Humanos , Lactente , Pré-Escolar , Asfixia , Defesa da Criança e do Adolescente , Riscos Ambientais , Corpos Estranhos , Instalações de Saúde/legislação & jurisprudência , Hipersensibilidade ao Látex , Látex/toxicidade
5.
Med. infant ; 23(1): 54-59, Marzo 2016. ilus
Artigo em Espanhol | LILACS | ID: biblio-881949

RESUMO

El Cambio Climático (CC) está afectando la salud humana y los sistemas naturales. En los últimos 50 años, las actividades del hombre, particularmente la quema de combustibles fósiles, han liberado importante cantidad de gases de efecto invernadero (GEI) los que atrapan el calor adicional en la atmósfera calentando el planeta. La temperatura y el nivel del mar aumentan, los glaciares se derriten y los patrones de las precipitaciones están cambiando. Los eventos climáticos extremos son más intensos y frecuentes. Es importante conocer el impacto del CC en la salud y en los ecosistemas porque es posible manejar sus efectos a través de medidas de adaptación y mitigación (AU)


Climate change (CC) is affecting human health and natural systems. Over the past 50 years, activities of mankind, mainly the burning of fossil fuels, has released important amounts of greenhouse gases (GHG) that trap additional heat in the atmosphere heating the planet. The sea temperature and level rise, glaciers melt, and patterns of precipitations have changed. Extreme climatic events have become more intense and frequent. It is important to recognize the impact of CC on health and ecosystems as it is possible late its effects through measures of adaptation and mitigation (AU)


Assuntos
Humanos , Mudança Climática , Vetores de Doenças , Doença/etiologia , Meio Ambiente , Riscos Ambientais , Gestão em Saúde
6.
Tech Coloproctol ; 20(1): 19-24, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26499791

RESUMO

BACKGROUND: The aim of the present study was to establish the efficacy of percutaneous posterior tibial nerve stimulation (PTNS) in treating flatal, urge and passive faecal incontinence (FI). METHODS: A prospective study with 55 patients with FI was carried out. Clinical anamnesis, physical examination, a reverse visual analogue scale (VAS) score, Wexner score and the American Society of Colon and Rectal Surgeons quality of life score were recorded at baseline and 6 months, along with an incontinence diary. Subjects underwent one weekly session for 12 consecutive weeks and then continued with six additional fortnightly sessions. An intention-to-treat analysis was performed. RESULTS: Fifty-five patients (44 females; mean age 58.62 ± 10.74 years) with FI were treated with PTNS. The origins of the incontinence were obstetric (52.7 %) and perineal surgery (34.5 %). Eight patients did not continue with the second stage of treatment. The median Wexner baseline value was 9.98. After 6 months, it had decreased to 4.55 (p < 0.001). The visual analogue scale (VAS) increased from 4.94 to 6.80 (p < 0.001). There was a significant improvement in lifestyle, coping/behaviour, depression/self-perception and embarrassment scores. With respect to different types of FI, there was an improvement in the Wexner score both in patients with true passive FI and in those with urge or mixed FI. CONCLUSIONS: PTNS is an effective treatment for FI. Patients with passive or urge FI can benefit from this therapy, with improvement of the Wexner score and quality of life variables.


Assuntos
Incontinência Fecal/terapia , Nervo Tibial , Estimulação Elétrica Nervosa Transcutânea/métodos , Idoso , Canal Anal/inervação , Incontinência Fecal/psicologia , Feminino , Humanos , Análise de Intenção de Tratamento , Masculino , Pessoa de Meia-Idade , Pacientes Desistentes do Tratamento/estatística & dados numéricos , Posicionamento do Paciente/métodos , Estudos Prospectivos , Qualidade de Vida , Resultado do Tratamento , Escala Visual Analógica
7.
Arch Soc Esp Oftalmol ; 89(1): 10-6, 2014 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-24269413

RESUMO

OBJECTIVE: To evaluate primary cultures from human conjunctiva supplemented with fetal bovine serum, autologous serum, and platelet-rich autologous serum, over human amniotic membrane and lens anterior capsules. METHODS: One-hundred and forty-eight human conjunctiva explants were cultured in CnT50(®) supplemented with 1, 2.5, 5 and 10% fetal bovine serum, autologous serum and platelet-rich autologous serum. Conjunctival samples were incubated at 37°C, 5% CO2 and 95% HR, for 3 weeks. RESULTS: The typical phenotype corresponding to conjunctival epithelial cells was present in all primary cultures. Conjunctival cultures had MUC5AC-positive secretory cells, K19-positive conjunctival cells, and MUC4-positive non-secretory conjunctival cells, but were not corneal phenotype (cytokeratin K3-negative) and fibroblasts (CD90-negative). CONCLUSIONS: Conjunctiva epithelial progenitor cells were preserved in all cultures; thus, a cell culture in CnT50(®) supplemented with 1 to 5% autologous serum over human amniotic membrane can provide better information of epithelial cell differentiation for the conjunctival surface reconstruction.


Assuntos
Túnica Conjuntiva/citologia , Células Epiteliais/citologia , Cultura Primária de Células/métodos , Idoso , Âmnio , Animais , Cápsula Anterior do Cristalino , Bovinos , Diferenciação Celular , Divisão Celular , Células Cultivadas , Técnicas de Cocultura , Meios de Cultura , Células Epiteliais/química , Feminino , Sangue Fetal , Humanos , Queratina-19/análise , Masculino , Pessoa de Meia-Idade , Mucina-5AC/análise , Mucina-4/análise , Soro , Células-Tronco/citologia
8.
Vaccine ; 31(41): 4523-7, 2013 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-23933372

RESUMO

West Nile virus (WNV) is maintained in nature in an enzootic transmission cycle between birds and mosquitoes, although it occasionally infects other vertebrates, including humans, in which it may result fatal. To date, no licensed vaccines against WNV infection are available for birds, but its availability would certainly benefit certain populations, as birds grown for restocking, hunting activities, or alimentary purposes, and those confined to wildlife reservations and recreation installations. We have tested the protective capability of WNV envelope recombinant (rE) protein in red-legged partridges (Alectoris rufa). Birds (n=28) were intramuscularly immunized three times at 2-weeks interval with rE and a control group (n=29) was sham-immunized. Except for 5 sham-immunized birds that were not infected and housed as contact controls, partridges were subcutaneously challenged with WNV. Oropharyngeal and cloacal swabs and feather pulps were collected at several days after infection and blood samples were taken during vaccination and after infection. All rE-vaccinated partridges elicited anti-WNV antibodies before challenge and survived to the infection, while 33.3% of the sham-immunized birds succumbed, as did 25% of the contact animals. Most (84%) unvaccinated birds showed viremia 3 d.p.i., but virus was only detected in 14% of the rE vaccinated birds. WNV-RNA was detected in feathers and swabs from sham-immunized partridges from 3 to 7 d.p.i., mainly in birds that succumbed to the infection, but not in rE vaccinated birds. Thus, rE vaccination fully protected partridges against WND and reduced the risk of virus spread.


Assuntos
Doenças das Aves/prevenção & controle , Proteínas do Envelope Viral/imunologia , Febre do Nilo Ocidental/veterinária , Vacinas contra o Vírus do Nilo Ocidental/imunologia , Vírus do Nilo Ocidental/imunologia , Animais , Anticorpos Antivirais/sangue , Doenças das Aves/imunologia , Sangue/virologia , Cloaca/virologia , Galliformes , Injeções Intramusculares , Orofaringe/virologia , Proteínas Recombinantes/genética , Proteínas Recombinantes/imunologia , Análise de Sobrevida , Vacinação/métodos , Vacinas Sintéticas/administração & dosagem , Vacinas Sintéticas/imunologia , Proteínas do Envelope Viral/genética , Febre do Nilo Ocidental/imunologia , Febre do Nilo Ocidental/prevenção & controle , Vacinas contra o Vírus do Nilo Ocidental/administração & dosagem
9.
Eur J Surg Oncol ; 39(8): 814-22, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23755989

RESUMO

BACKGROUNDS: Multimodal treatment for locally advanced gastric cancer has been reported to improve disease-free survival when compared to surgery alone. We aimed to clarify the efficacy and safety of perioperative chemotherapy for locally advanced gastric cancer patients treated in daily clinical practice. METHODS: Patients diagnosed with locally advanced gastric cancer were treated with perioperative chemotherapy and surgery. The primary end point was the complete resection (R0) rate. Secondary end points were disease-free survival (DFS), overall survival (OS), toxicity, radiological response rate, pathological response rate and downstaging rate. We also looked for prognostic and predictive factors for DFS, OS, pathological complete response and the R0 rate. RESULTS: Forty patients were found eligible for this retrospective analysis. At diagnosis, 52.5% of patients were classified as stage II and 47.5% were stage III. Forty percent of patients completed three preoperative cycles and three postoperative cycles. A tolerable toxicity related to chemotherapy was found. Thirty-nine patients underwent surgery: 80% reached a complete resection (R0), down-staging was detected in 57.5% and 17.5% had a pathologically complete response. The median time of disease-free survival was 34.05 months (95%CI 25.6-42.4), and the median time of overall survival was 39.01 months (95%CI 30.8-47.1). We found that the presence of comorbidities were independent predictive factors for the pathologic response, while the chemotherapy schedule and the clinical response could independently predict a complete resection. CONCLUSIONS: Our results support that perioperative chemotherapy for locally advanced gastric cancer can be safely delivered in daily clinical practice, obtaining an improvement of the pathologic response and the complete resection of gastric cancer.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Neoplasias Esofágicas/tratamento farmacológico , Junção Esofagogástrica/patologia , Neoplasias Primárias Múltiplas/tratamento farmacológico , Neoplasias Gástricas/tratamento farmacológico , Neoplasias Gástricas/mortalidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise de Variância , Quimioterapia Adjuvante , Estudos de Coortes , Terapia Combinada , Intervalos de Confiança , Intervalo Livre de Doença , Neoplasias Esofágicas/mortalidade , Neoplasias Esofágicas/patologia , Neoplasias Esofágicas/cirurgia , Feminino , Seguimentos , Gastrectomia/métodos , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Terapia Neoadjuvante , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Neoplasias Primárias Múltiplas/mortalidade , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/cirurgia , Assistência Perioperatória/métodos , Valor Preditivo dos Testes , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Medição de Risco , Neoplasias Gástricas/patologia , Neoplasias Gástricas/cirurgia , Análise de Sobrevida
10.
Hum Reprod ; 27(9): 2775-84, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22718279

RESUMO

BACKGROUND: Decidual stromal cells (DSCs) have classically been considered fibroblastic cells, although their function, cell lineage and origin are not fully understood. We previously demonstrated that human DSCs showed similarities with follicular dendritic cells (FDCs): DSCs expressed FDC-associated antigens, both types of cells are contractile and both are related to mesenchymal stem cells (MSCs). To further characterize DSCs, we investigated whether DSCs and FDCs share any distinctive phenotypical and functional characteristics. METHODS: Human FDC lines were obtained from tonsillectomy samples, human DSC lines from elective termination of pregnancy samples and human MSC lines from bone marrow aspirates. We isolated DSC, FDC and MSC lines and compared their characteristics with flow cytometry and enzyme-linked immunosorbent assay. Cell lines were cultured with tumour necrosis factor (TNF) and lymphotoxin (LT)α(1)ß(2), cytokines involved in FDC differentiation. Cell lines were also differentiated in culture after exposure to progesterone and cAMP, factors involved in the differentiation (decidualization) of DSC. RESULTS: Like MSCs, DSCs and FDCs expressed MSC-associated antigens (CD10, CD29, CD54, CD73, CD106, α-smooth muscle actin and STRO-1) and lacked CD45 expression, and all three types of cell line showed increased expression of CD54 (ICAM-1) and CD106 (VCAM-1) when cultured TNF and LTα(1)ß(2). DSCs and FDCs, however, exhibited characteristics not observed in MSCs: DSCs expressed FDC-associated antigens CD14, CD21 and CD23, B cell-activating factor and secreted C-X-C motif chemokine 13. Moreover, DSC lines but not MSC lines inhibited the spontaneous apoptosis of B lymphocytes, a typical functional attribute of FDC. During culture with progesterone and cAMP, FDCs, like DSCs but in contrast to MSCs, changed their morphology from a fibroblastic to a rounder shape, and cells secreted prolactin. CONCLUSIONS: Our results suggest that DSCs and FDCs share a common precursor in MSCs but this precursor acquires new capacities when it homes to peripheral tissues. We discuss these shared properties in the context of immune-endocrine regulation during pregnancy.


Assuntos
Apoptose , Fator Ativador de Células B/metabolismo , Linfócitos B/citologia , Quimiocina CXCL13/biossíntese , Decídua/metabolismo , Decídua/fisiologia , Células Estromais/citologia , Adulto , Células da Medula Óssea/citologia , Linhagem Celular , Células Cultivadas , Criança , Pré-Escolar , Citocinas/metabolismo , Feminino , Fibroblastos/citologia , Humanos , Masculino , Células-Tronco Mesenquimais/citologia , Fenótipo , Gravidez
11.
Curr Cancer Drug Targets ; 12(4): 402-38, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22229248

RESUMO

Refractoriness to the pharmacological treatment of cancer is dependent on the expression levels of genes involved in mechanisms of chemoresistance and on the existence of genetic variants that may affect their function. Thus, changes in genes encoding solute carriers may account for considerable inter-individual variability in drug uptake and the lack of sensitivity to the substrates of these transporters. Moreover, changes in proteins involved in drug export can affect their subcellular localization and transport ability and hence may also modify the bioavailability of antitumor agents. Regarding pro-drug activation or drug inactivation, genetic variants are responsible for changes in the activity of drug-metabolizing enzymes, which affect drug clearance and may determine the lack of response to anticancer chemotherapy. The presence of genetic variants may also decrease the sensitivity to pharmacological agents acting through molecular targets or signaling pathways. Recent investigations suggest that changes in genes involved in DNA repair may affect the response to platinum-based drugs. Since most anticancer agents activate cell death pathways, the evasion of apoptosis plays an important role in chemoresistance. Several genetic variants affecting death-receptor pathways, the mitochondrial pathway, downstream caspases and their natural modulators, and the p53 pathway, whose elements are mutated in more than half of tumors, and survival pathways, have been reported. The present review summarizes the available data regarding the role of genetic variants in the different mechanisms of chemoresistance and discusses their potential impact in clinical practice and in the development of tools to predict and overcome chemoresistance.


Assuntos
Antineoplásicos/uso terapêutico , Resistencia a Medicamentos Antineoplásicos/genética , Variação Genética , Neoplasias/tratamento farmacológico , Animais , Antineoplásicos/metabolismo , Apoptose/efeitos dos fármacos , Apoptose/genética , Proteínas de Transporte/genética , Pontos de Checagem do Ciclo Celular/efeitos dos fármacos , Pontos de Checagem do Ciclo Celular/genética , Sistema Enzimático do Citocromo P-450/genética , Sistema Enzimático do Citocromo P-450/metabolismo , Feminino , Humanos , Camundongos , Transdução de Sinais/efeitos dos fármacos , Transdução de Sinais/genética , Resultado do Tratamento
12.
Rev Clin Esp ; 211(8): 385-90, 2011 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-21794854

RESUMO

BACKGROUND AND OBJECTIVE: The chronic fatigue syndrome (CFS) is a disabling disorder. Few studies are available in our area on the prevalence and characteristics of CFS. Therefore, we carried out a study of a consecutive series of 824 cases diagnosed in two specialized units. PATIENTS AND METHODS: We evaluated all of the CFS patients seen from January 2008 to June 2010. We analyzed social and demographic data, employment status, time of clinical evolution, trigger factors and onset, Fukuda and Canadian criteria, associated comorbidities and treatment. RESULTS: A total of 824 patients were included, 748 (91%) woman, mean age 48±9 years. Average age of onset of symptoms was 35±11 years, time to diagnosis 108±88 month. A precipitating factor was identified in 481 (58%) patients, the onset was gradual in 517 (63%) and 515 (62.5%) were not employed. The most outstanding diagnostic criteria of Fukuda were prolonged generalized fatigue after exercise, sleep disturbance and impairments in concentration and short-term memory. The different groups of symptoms defined by the Canadian consensus showed that CFS is a homogeneous entity. Accompanying comorbidity phenomena were anxiety 691 (83%), sicca syndrome 678 (82%), fibromyalgia 450 (55%). A total of 63% of patients (520) received pharmacological treatment. CONCLUSIONS: CFS is an illness that preferentially affects young women and results in employment absenteeism. The most relevant clinical features were prolonged generalized fatigue after exercise, neurocognitive impairment and sleep disturbance. In the evaluation of the patient, it is very important to apply the Canadian criteria and to assess comorbidity.


Assuntos
Síndrome de Fadiga Crônica , Adulto , Idoso , Síndrome de Fadiga Crônica/diagnóstico , Síndrome de Fadiga Crônica/epidemiologia , Feminino , Unidades Hospitalares , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
13.
Bioorg Med Chem ; 18(16): 6170-8, 2010 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-20638288

RESUMO

The efficacy of new porphyrin amino acid conjugates as photosensitizers for photodynamic therapy (PDT) were assayed in vitro on tumoral (HeLa) and on non tumoral (HaCaT) human cell lines. The conjugates stable in liposomes are able to penetrate efficiently in the cytoplasm of cultured cancer and normal cells. No dark cytotoxicity is observed at the same concentration used for PDT cell treatment and during long incubation time (24h). The cell survival after the PDT treatment with visible light is dependent upon light exposure level and compound concentration. The tested compounds show higher photocytotoxicity in tumoral HeLa cells than in no tumoral HaCaT cells. The results suggest that these amino acid porphyrin conjugates are potential photosensitizers for PDT.


Assuntos
Aminoácidos/química , Aminoácidos/farmacologia , Células Epiteliais/efeitos dos fármacos , Neoplasias/tratamento farmacológico , Fármacos Fotossensibilizantes/química , Fármacos Fotossensibilizantes/farmacologia , Porfirinas/química , Porfirinas/farmacologia , Aminoácidos/síntese química , Linhagem Celular Tumoral , Sobrevivência Celular/efeitos dos fármacos , Células Epiteliais/patologia , Células HeLa , Humanos , Fotoquimioterapia , Fármacos Fotossensibilizantes/síntese química , Porfirinas/síntese química
14.
Curr Mol Med ; 10(5): 467-85, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20540704

RESUMO

When considered together, enterohepatic tumours, i.e., those affecting the liver, the biliary tree and gallbladder and the intestine, constitute the first cause of death due to cancer. Although in many cases surgery and radiotherapy are efficacious, these therapeutic strategies cannot always be implemented. Moreover, even when the removal of tumours is possible, pre- and post-operative pharmacological adjuvant regimens are often needed. However, one important limitation to the use of cytostatic drugs to treat enterohepatic tumours is that they generally exhibit marked refractivity to currently available pharmacological approaches. In addition, most of them increase their chemoresistance during treatment. In view of the high refractivity of these tumours to anti-cancer drugs and the existence of undesirable side effects, both of which are drawbacks in the available chemotherapy, several novel therapeutic approaches have been devised. The purpose of the present review is to offer some insight into the different types of strategies that have already been evaluated and incorporated into clinical practice, such as therapies based on the use of molecular targets, as well as into the approaches that are still under experimental development, such as the chemosensitization of cancer cells, genetic manipulation of tumour or host cells, and cell-specific enhancement of intracellular concentrations of the active agent by efficient targeting of pro-drugs or by using inhibitors of efflux pumps.


Assuntos
Antineoplásicos/uso terapêutico , Terapia Combinada/métodos , Neoplasias do Sistema Digestório/tratamento farmacológico , Resistencia a Medicamentos Antineoplásicos , Animais , Antineoplásicos/farmacologia , Sistemas de Liberação de Medicamentos , Resistencia a Medicamentos Antineoplásicos/efeitos dos fármacos , Terapia Genética , Humanos , Pró-Fármacos/uso terapêutico
15.
Biochim Biophys Acta ; 1802(5): 443-53, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20153825

RESUMO

BACKGROUND: Complex I (CI) deficiency is the most frequent cause of OXPHOS disorders. Recent studies have shown increases in reactive oxygen species (ROS) production and mitochondrial network disturbances in patients' fibroblasts harbouring mutations in CI subunits. OBJECTIVES: The present work evaluates the impact of mutations in the NDUFA1 and NDUFV1 genes of CI on mitochondrial bioenergetics and dynamics, in fibroblasts from patients suffering isolated CI deficiency. RESULTS: Decreased oxygen consumption rate and slow growth rate were found in patients with severe CI deficiency. Mitochondrial diameter was slightly increased in patients' cells cultured in galactose or treated with 2'-deoxyglucose without evidence of mitochondrial fragmentation. Expression levels of the main proteins involved in mitochondrial dynamics, OPA1, MFN2, and DRP1, were slightly augmented in all patients' cells lines. The study of mitochondrial dynamics showed delayed recovery of the mitochondrial network after treatment with the uncoupler carbonyl cyanide m-chlorophenyl hydrazone (cccp) in patients with severe CI deficiency. Intracellular ROS levels were not increased neither in glucose nor galactose medium in patients' fibroblasts. CONCLUSION: Our main finding was that severe CI deficiency in patients harbouring mutations in the NDUFA1 and NDUFV1 genes is linked to a delayed mitochondrial network recovery after cccp treatment. However, the CI deficiency is neither associated with massive mitochondrial fragmentation nor with increased ROS levels. The different genetic backgrounds of patients with OXPHOS disorders would explain, at least partially, differences in the pathophysiological manifestations of CI deficiency.


Assuntos
Complexo I de Transporte de Elétrons/metabolismo , Metabolismo Energético , Fibroblastos/enzimologia , Mitocôndrias/metabolismo , Doenças Mitocondriais/genética , Mutação/genética , NADH Desidrogenase/genética , Acidose/genética , Acidose/metabolismo , Acidose/patologia , Trifosfato de Adenosina/metabolismo , Western Blotting , Células Cultivadas , Epilepsia/genética , Epilepsia/metabolismo , Epilepsia/patologia , Citometria de Fluxo , Imunofluorescência , Glicólise , Humanos , Lactente , Leucoencefalopatias/genética , Leucoencefalopatias/metabolismo , Leucoencefalopatias/patologia , Masculino , Mitocôndrias/efeitos dos fármacos , Doenças Mitocondriais/metabolismo , NADH Desidrogenase/metabolismo , Consumo de Oxigênio , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Pele/citologia , Pele/metabolismo
16.
J Sex Marital Ther ; 34(3): 240-7, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18398762

RESUMO

To assess sexual function in women with chronic fatigue syndrome. The study included 27 women, aged 20 to 45 years, with chronic fatigue syndrome (CFS) and 15 healthy female controls. Sexual function was measured with the Golombok Rust Inventory of Sexual Satisfaction (GRISS) questionnaire and five clinical questions. In the patient group, total fatigue impact scale (FIS) score correlated with the GRISS satisfaction (r:-0.471, P < .005), avoidance (r: 0.632, P < .001) and sensuality (r: -0.445, P = .008) subscales. The GRISS satisfaction, avoidance, and sensuality subscale results and the fact of seeing the sexual act as a negative experience correlated with the intensity of fatigue in women with CFS.


Assuntos
Síndrome de Fadiga Crônica/complicações , Libido , Satisfação Pessoal , Disfunções Sexuais Fisiológicas/diagnóstico , Disfunções Sexuais Psicogênicas/diagnóstico , Adulto , Estudos de Casos e Controles , Síndrome de Fadiga Crônica/psicologia , Feminino , Humanos , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Projetos de Pesquisa , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Disfunções Sexuais Fisiológicas/etiologia , Disfunções Sexuais Psicogênicas/etiologia , Inquéritos e Questionários
17.
Placenta ; 28(2-3): 107-17, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-16712928

RESUMO

Using cytokeratin-7-positive trophoblast cells (hTr) isolated from human term placentas and the choriocarcinoma cell lines (hCC) BeWo, Jeg-3 and JAr, the expression of genes involved in the hepatobiliary excretion of cholephilic compounds was investigated by RT-PCR/sequencing followed by measurement of the absolute abundance of mRNA by real-time RT-PCR. Although mRNA of BSEP was detectable and its expression confirmed by Western blotting, its very low expression (higher in hTr than in whole placenta and hCC) did not permit its detection by immunohistochemistry. In hTr, the expression was high for OATP-B/2B1, OATP-8/1B3, MRP1, MRP3, BCRP, FIC1, RARalpha, FXR and SHP, low for OSTalpha, MRP2, MRP4, MRP8, MDR1, CAR and SXR, very low for OATP-A/1A2 and MDR3, and not detectable for OATP-C/1B1, HNF1alpha and HNF4. Expression patterns in hCC mimicked those in hTr, although some important cell line-specific differences were found. The functionality of transporters expressed in hCC was confirmed by their ability to take up and export estradiol 17beta-d-glucuronide in a self-inhibitable and temperature-sensitive manner. In conclusion, several transporters, export pumps, and nuclear receptors involved in the liver excretory function may play a similar role in the placenta, whose specific aspects can be studied by selectively using BeWo, Jeg-3 or JAr cells.


Assuntos
Linhagem Celular/metabolismo , Coriocarcinoma/metabolismo , Trofoblastos/metabolismo , Neoplasias Uterinas/metabolismo , Membro 11 da Subfamília B de Transportadores de Cassetes de Ligação de ATP , Transportadores de Cassetes de Ligação de ATP/metabolismo , Feminino , Perfilação da Expressão Gênica , Humanos , Fígado/fisiologia , Proteínas de Membrana Transportadoras/metabolismo , Placenta/fisiologia , Gravidez , Receptores Citoplasmáticos e Nucleares/metabolismo
18.
Ann Chir ; 130(6-7): 407-10, 2005.
Artigo em Francês | MEDLINE | ID: mdl-16023460

RESUMO

BACKGROUND: Anisakis infestation is related to the consumption of raw or undercooked fish. It can cause allergic reactions, or abdominal pain when the gastrointestinal tube is involved. Its incidence is rising in Europe. OBJECTIVE: To analyze a group of patients complaining of right iliac fossa pain with ileitis or colitis and establish its relationship with Anisakis spp. infection. PATIENTS AND METHODS: During a 3-months period, 28 patients with abdominal pain were referred to the hospital with a diagnosis of ileitis or colitis by imaging, endoscopy or surgery. Specific serology for Anisakis was performed in all of them. RESULTS: At imaging study, 14 patients had ileitis or colitis, three intestinal obstruction and one acute appendicitis. Fourteen patients were operated on and 7 of them underwent resection; histopathologic diagnosis were eosinophilic ileitis (2 cases) or colitis (3 cases), non specific ileitis (1 case) and Crohn's disease (1 case). Another patient had an endoscopic biopsy that concluded eosinophilic colitis. Anisakis serology was positive in 25 (89%), negative in two and unknown in one. All patients were discharged uneventfully. CONCLUSIONS: Digestive anisakiasis may present as acute abdomen. Surgeons should know and consider this diagnosis in patients with ileitis or colitis, moreover if an antecedent of raw or undercooked fish ingestion is present. A conservative approach is best performed but the clinical picture can require an emergent laparotomy.


Assuntos
Dor Abdominal/etiologia , Anisaquíase/complicações , Anisaquíase/cirurgia , Colite/etiologia , Colite/cirurgia , Procedimentos Cirúrgicos do Sistema Digestório , Ileíte/etiologia , Ileíte/cirurgia , Adulto , Anisaquíase/diagnóstico , Feminino , Humanos , Masculino , Estudos Retrospectivos
19.
Hernia ; 8(1): 70-2, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14634839

RESUMO

The aim of this study is to present two patients diagnosed with diaphragmatic Morgagni hernia and treated by repairing the hernia defect with a mesh by laparoscopic surgery. We describe the placement of a double-layer mesh anchored with helicoidal staples to repair the hernia defect using laparoscopic surgery. Laparoscopic surgery allows repair of these defects whilst avoiding the disadvantages of a major laparotomy or a thoracotomy. The existence of double-layer meshes that can be placed in contact with the abdominal viscera allows the defect to be closed safely and without tension.


Assuntos
Hérnia Diafragmática/cirurgia , Telas Cirúrgicas , Criança , Feminino , Hérnia Diafragmática/diagnóstico , Humanos , Laparoscopia , Pessoa de Meia-Idade
20.
An Med Interna ; 9(9): 447-9, 1992 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-1391582

RESUMO

Four patients admitted to our hospital with different symptomatology are studied: a 9-years-old boy with hyperhidrosis; a 47-years-old woman with arterial hypertension and two young males, 25 and 36-years-old, respectively, with thoracic pain. In all cases, the presence of pheochromocytoma was suspected. One of them died due to left ventricular failure with acute lung edema. The other three patients were diagnosed by hormonal determinations, detecting a supra-renal body with abdominal echography and computerized axial tomography and undergoing surgery. Currently, they are asymptomatic.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Feocromocitoma/diagnóstico , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA