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1.
Internet Interv ; 34: 100640, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38023964

RESUMO

Background: To date, all preventive anxiety disorders interventions are one-fit-all and none of them are based on individual level and risk profile. The aim of this project is to design, develop and evaluate an online personalized intervention based on a risk algorithm for the universal prevention of anxiety disorders in the general population. Methods: A randomized controlled trial (RCT) with two parallel arms (prevANS vs usual care) and 1-year follow-up including 2000 participants without anxiety disorders from Spain and Portugal will be conducted.The prevANS intervention will be self-guided and can be implemented from the prevANS web or from the participants' Smartphone (through an App). The prevANS intervention will have different intensities depending on the risk level of the population, evaluated from the risk algorithm for anxiety: predictA. Both low and moderate-high risk participants will receive information on their level and profile (risk factors) of anxiety disorders, will have access to stress management tools and psychoeducational information periodically. In addition, participants with a moderate-high risk of anxiety disorders will also have access to cognitive-behavioral training (problem-solving, decision-making, communication skills, and working with thoughts). The control group will not receive any intervention, but they will fill out the same questionnaires as the intervention group.Assessments will be completed at baseline, 6 and 12-month follow-up. The primary outcome is the cumulative incidence of anxiety disorders. Secondary outcomes include depressive and anxiety symptoms, risk probability of anxiety disorders (predictA algorithm) and depression (predictD algorithm), improvement in physical and mental quality of life, and acceptability and satisfaction with the intervention. In addition, cost-effectiveness and cost-utility analyses will also be carried out from two perspectives, societal and health system, and analyses of mediators and moderators will also be performed. Discussion: To the best of our knowledge, prevANS study will be the first to evaluate the effectiveness and cost-effectiveness of a personalized online intervention based on a risk predictive algorithm for the universal prevention of anxiety disorders. Trial registration: ClinicalTrials.gov: NCT05682365.

2.
J Biomed Inform ; 145: 104475, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37595770

RESUMO

BACKGROUND AND OBJECTIVE: Valvular heart disease (VHD) is associated with elevated mortality rates. Although transthoracic echocardiography (TTE) is the gold standard detection tool, phonocardiography (PCG) could be an alternative as it is a cost-effective and noninvasive method for cardiac auscultation. Many researchers have dedicated their efforts to improving the decision-making process and developing robust and precise approaches to assist physicians in providing reliable diagnoses of VHD. METHODS: This research proposes a novel approach for the detection of anomalous valvular heart sounds from PCG signals. The proposed approach combines orthogonal non-negative matrix factorization (ONMF) and convolutional neural network (CNN) architectures in a three-stage cascade. The aim of the proposal is to improve the learning process by identifying the optimal ONMF temporal or spectral patterns for accurate detection. In the first stage, the time-frequency representation of the input PCG signal is computed. Next, band-pass filtering is performed to locate the spectral range that is most relevant for the presence of such cardiac abnormalities. In the second stage, the temporal and spectral cardiac structures are extracted using the ONMF approach. These structures are utilized in the third stage and fed into the CNN architecture to detect abnormal heart sounds. RESULTS: Several state-of-the-art CNN architectures, such as LeNet5, AlexNet, ResNet50, VGG16 and GoogLeNet, have been evaluated to determine the effectiveness of using ONMF temporal features for VHD detection. The results reveal that the integration of ONMF temporal features with a CNN classifier significantly improve VHD detection. Specifically, the proposed approach achieves an accuracy improvement of approximately 45% when ONMF spectral features are used and 35% when time-frequency features from the short-time Fourier transform (STFT) spectrogram are used. Additionally, feeding ONMF temporal features into low-complexity CNN architectures yields competitive results comparable to those obtained with complex architectures. CONCLUSIONS: The temporal structure factorized by ONMF plays a critical role in distinguishing between normal heart sounds and abnormal heart sounds since the repeatability of normal heart cycles is disrupted by the presence of cardiac abnormalities. Consequently, the results highlight the importance of appropriate input data representation in the learning process of CNN models in the biomedical field of valvular heart sound detection.


Assuntos
Doenças das Valvas Cardíacas , Fonocardiografia , Humanos , Algoritmos , Doenças das Valvas Cardíacas/diagnóstico por imagem , Redes Neurais de Computação , Fonocardiografia/métodos
3.
BMC Pregnancy Childbirth ; 20(1): 521, 2020 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-32912184

RESUMO

BACKGROUND: Previous studies in pregnancy have not focused in evaluating the effect of walking during pregnancy and prevention of insomnia. Our general objective is to determine the effect of a walking program in preventing the appearance of insomnia in the third trimester of pregnancy, increasing sleep quality and improving quality of life throughout pregnancy. METHODS: Randomized Controlled trial in parallel in healthy sedentary pregnant women (n = 265), Walking_Preg Project (WPP), from university hospital in Granada, Spain. At 12th gestational week (GW), they will be invited to participate and randomly assigned to one of the three arms of study: the intervention group I1 (pedometer, goal of 11,000 steps/day), intervention group I2 (pedometer, no goal) and control (no pedometer). Duration of intervention: 13-32 GW. At 12th, 19th and 31st GW the average steps/day will be measured in groups I1 and I2. At 13th, 20th and 32nd GW, Athens Insomnia Scale (AIS), Pittsburgh Sleep Quality Index (PSQI), Adherence to Mediterranean Diet (AMD), physical activity (short IPAQ), quality of life (PSI), and consumption of toxic substances (caffeine, illegal drugs, alcohol and tobacco) will be collected. Student t test or Mann-Whitney U will be used to compare 19th and 31st GW mean of daily steps between I1 and I2 groups. To compare differences between groups in terms of frequency of insomnia/quality of life for each trimester of pregnancy, Pearson's Chi-square test or Fisher's exact test will be used. To determine differences in hours of sleep and quality of sleep throughout each trimester of pregnancy, analysis of variance or Friedman test will be used. McNemar-Bowker test will be used to assess differences in life quality in pre-post analyses in the 3 arms. We will use Stata 15 statistical software. DISCUSSION: promoting walking in second half of pregnancy through use of pedometer and health pre-registration of a goal to be achieved -'10,000-11,000 steps a day'- should prevent appearance of insomnia in third trimester, will increase sleep quality and quality of life in pregnant women. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT03735381 . Registered 8th November, 2018.


Assuntos
Complicações na Gravidez/prevenção & controle , Distúrbios do Início e da Manutenção do Sono/prevenção & controle , Caminhada , Actigrafia , Feminino , Humanos , Gravidez , Terceiro Trimestre da Gravidez , Ensaios Clínicos Controlados Aleatórios como Assunto/métodos
4.
Neurología (Barc., Ed. impr.) ; 33(1): 28-34, ene.-feb. 2018. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-172544

RESUMO

Introducción: El dolor neuropático es el problema más habitual en la neuropatía inducida por quimioterapia (NIQ) y el que más interfiere en la calidad de vida de los pacientes. Su detección precoz resulta fundamental para reducir o eliminar los problemas que de este se derivan. Los objetivos de este estudio eran: 1) determinar la incidencia y las características de NIQ y dolor neuropático en pacientes con mieloma múltiple (MM) tratados con bortezomib, y 2) evaluar el impacto del dolor neuropático en las actividades de la vida diaria (AVD). Método: Todos los pacientes diagnosticados de MM candidatos a tratamiento con bortezomib atendidos en el Hospital Joan XXIII durante 2013, participaron. Los participantes eran entrevistados individualmente e informaban sobre la presencia, las características y el impacto del dolor, así como de los efectos adversos del bortezomib. Resultados: Participaron 22 personas, de las cuales la mitad presentaron NIQ, siendo el grado 2 el predominante. La localización más habitual del dolor neuropático era manos y pies; aparecía de manera espontánea y progresiva empeorando en reposo y durante la noche, con predominio de síntomas positivos. El impacto del dolor se reflejó en todas las AVD. La limitación principal fue la incapacidad para disfrutar de la vida. La neuropatía periférica ocupó el primer lugar en orden de importancia subjetiva para el paciente seguido de la fatiga y el estreñimiento. Conclusiones: Una adecuada evaluación y detección precoz del dolor neuropático es fundamental para minimizar su impacto en la calidad de vida del paciente (AU)


Introduction: The neuropathic pain is the most habitual problem in the neuropathy induced by chemotherapy (NIQ) and the one that more interferes in the quality of life of the patients. His precocious detection turns out to be fundamental to reduce or to eliminate the problems that from this one stem. The aims of this study were: 1) determine the incident and NIQ's characteristics and neuropathic pain in patients with mieloma multiple (MM) treated with bortezomib, and 2) to evaluate the impact of the neuropathic pain in the activities of the daily life (AVD). Method: All the patients diagnosed of MM candidates for treatment with bortezomib attended in the Hospital Joan XXIII during 2013, took part. The participants were interviewed individually and were reporting on the presence, the characteristics and the impact of the pain, as well as of the adverse effects of the bortezomib. Results: There took part 22 persons, of which NIQ presented the half, being the degree 2 the predominant one. The most habitual location of the neuropathic pain was hands and feet; it was appearing in a spontaneous and progressive way deteriorating in rest and during the night, with predominance of positive symptoms. The impact of the pain was reflected in all the AVD. The principal limitation was the disability to enjoy the life. The peripheral neuropathy occupied the first place in order of subjective importance for the patient followed by the fatigue and the constipation. Conclusions: A proper assessment and early detection of neuropathic pain is critical to minimizing its impact on the quality of life of patients (AU)


Assuntos
Dor do Câncer/tratamento farmacológico , Dor do Câncer/etiologia , Mieloma Múltiplo/complicações , Bortezomib/efeitos adversos , Polineuropatia Paraneoplásica , Qualidade de Vida , Entrevistas como Assunto/métodos , Bortezomib/toxicidade , Diagnóstico Precoce
5.
Eur J Cancer Care (Engl) ; 27(6): e12558, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27507260

RESUMO

The aim of this study was to conduct a systematic review of the literature on the needs of adolescents and young adults (AYAs) who have survived cancer. PRISMA recommendations for systematic reviews were followed, and the quality of the studies reviewed was also assessed with a specific checklist. The following databases were searched from their inception to May 2016: ERIC, EMBASE, MEDLINE, PILOTS, ProQuest, PsycARTICLES, PsycBOOKS, psycCRITIQUES, PsycINFO, Social Services Abstracts and Sociological Abstracts. Fourteen studies were identified and analysed. The results show that the most common needs for AYA cancer survivors are as follows: "individualised information and advice," "counselling and psychological support" and "social support, and social relationships." These results are different from those reported in studies on adults, which shows the importance of specifically addressing the needs of this population. In order to advance in this emerging area of study and facilitate the work of health professionals, it is crucial to reach a consensus on two central issues: how the needs of AYA survivors should be conceptualised and what the most valid and reliable procedure for assessing patient's needs is.


Assuntos
Sobreviventes de Câncer , Necessidades e Demandas de Serviços de Saúde , Neoplasias/terapia , Adolescente , Assistência ao Convalescente , Aconselhamento , Humanos , Avaliação das Necessidades , Terapia Nutricional , Educação de Pacientes como Assunto , Apoio Social , Adulto Jovem
6.
Neurologia (Engl Ed) ; 33(1): 28-34, 2018.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27475880

RESUMO

INTRODUCTION: The neuropathic pain is the most habitual problem in the neuropathy induced by chemotherapy (NIQ) and the one that more interferes in the quality of life of the patients. His precocious detection turns out to be fundamental to reduce or to eliminate the problems that from this one stem. The aims of this study were: 1) determine the incident and NIQ's characteristics and neuropathic pain in patients with mieloma multiple (MM) treated with bortezomib, and 2) to evaluate the impact of the neuropathic pain in the activities of the daily life (AVD). METHOD: All the patients diagnosed of MM candidates for treatment with bortezomib attended in the Hospital Joan XXIII during 2013, took part. The participants were interviewed individually and were reporting on the presence, the characteristics and the impact of the pain, as well as of the adverse effects of the bortezomib. RESULTS: There took part 22 persons, of which NIQ presented the half, being the degree 2 the predominant one. The most habitual location of the neuropathic pain was hands and feet; it was appearing in a spontaneous and progressive way deteriorating in rest and during the night, with predominance of positive symptoms. The impact of the pain was reflected in all the AVD. The principal limitation was the disability to enjoy the life. The peripheral neuropathy occupied the first place in order of subjective importance for the patient followed by the fatigue and the constipation. CONCLUSIONS: A proper assessment and early detection of neuropathic pain is critical to minimizing its impact on the quality of life of patients.


Assuntos
Antineoplásicos/uso terapêutico , Bortezomib/uso terapêutico , Mieloma Múltiplo/tratamento farmacológico , Neuralgia/tratamento farmacológico , Atividades Cotidianas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Espanha
7.
Rev. Soc. Esp. Dolor ; 25(supl.1): 46-56, 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-174649

RESUMO

Los conocimientos derivados de la Psicología y las contribuciones de los psicólogos han sido fundamentales en el progreso del estudio, evaluación y tratamiento del dolor infantil, particularmente del dolor crónico. El objetivo de este artículo es realizar una aproximación a algunas de las parcelas en las cuales los conocimientos de la Psicología y el trabajo de los psicólogos revisten especial interés en relación con el dolor crónico infantil. Y, así, en estas páginas se resumen los hallazgos más relevantes relacionados con el estudio de los factores de riesgo de la cronificación del dolor, el tratamiento psicológico y, en especial, las intervenciones cognitivo-conductuales cuando se utilizan en población infantil y la incorporación de las tecnologías de la información y la comunicación, particularmente la tecnología móvil inteligente para la evaluación y tratamiento de los jóvenes con dolor crónico


Psychology-based knowledge, along with the contributions of psychologists, has been instrumental for the progress of the study, assessment, and treatment of pediatric pain, particularly pediatric chronic pain. The objective of this article is to provide a brief analysis of some of the areas in which psychological-related knowledge and the work of psychologists are of special interest in relation to pediatric chronic pain. Here, we summarize the most relevant findings related to the study of risk factors for the development of pediatric chronic pain, psychological treatment, and especially cognitive-behavioral interventions when used with youths with chronic pain, and the incorporation of information and communication technologies, particularly mobile technology for the evaluation and treatment of young people with chronic pain


Assuntos
Humanos , Criança , Adolescente , Adulto Jovem , Dor Crônica/psicologia , Psicologia da Criança/métodos , Percepção da Dor , Fatores de Risco , Psicoterapia/métodos , Cefaleia/psicologia , Aplicativos Móveis/tendências
8.
Rev Esp Quimioter ; 30(5): 312-318, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28945063

RESUMO

Streptococcus agalactiae, group B Streptococcus (SGB), is the most important cause of morbi-mortality among newborn population, and an important pathogen among immunossupressed adult patients. Despite the advances in the treatment and prevention of neonatal infections as a consequence of implementation of national and international recommendations for prevention of infection, there are still some improvements for the final control of the disease. In this sense, the vaccination against SGB could be an effective measure for the prevention of disease in those cases where intrapartum prophylaxis is not useful and in adult patients with risk factors for invasive infection due to SGB. This review summarizes the efforts made until now in order to establish the control of the infection, and brings some information on the current state-of-the art of vaccines against SGB, in which different strategies in their design have been used.


Assuntos
Vacinas Bacterianas/uso terapêutico , Infecções Estreptocócicas/microbiologia , Infecções Estreptocócicas/prevenção & controle , Streptococcus agalactiae/imunologia , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/microbiologia , Doenças do Recém-Nascido/prevenção & controle , Gravidez , Complicações Infecciosas na Gravidez , Infecções Estreptocócicas/epidemiologia , Infecções Estreptocócicas/imunologia , Vacinação , Vacinas Conjugadas
9.
Artigo em Inglês | MEDLINE | ID: mdl-27007727

RESUMO

Advances in the early detection of cancer and the development of more effective treatments have resulted in a larger number of adolescents and young adults (AYAs), becoming cancer survivors. However, knowledge regarding their needs and if those needs are adequately addressed remains limited. The aims of this study were to: (1) better understand the needs of AYAs after cancer treatment; (2) analyse the importance of those needs; (3) determine which needs are not adequately addressed; and (4) test the hypothesis that AYA cancer survivors have different needs than adult survivors. Twenty-nine health oncology professionals, 17 AYA survivors and 12 relatives of AYA survivors participated in the Delphi study. The needs identified could be classified into six categories, and all were rated as highly important by all participants. The category perceived as least adequately addressed across the three groups was 'Counselling and psychological support.' The findings provide important new information regarding the needs of AYA cancer survivors that can inform the development of interventions to improve the quality of life of these individuals.


Assuntos
Assistência ao Convalescente , Cuidadores , Pessoal de Saúde , Necessidades e Demandas de Serviços de Saúde , Recidiva Local de Neoplasia/diagnóstico , Neoplasias , Sobreviventes , Adolescente , Adulto , Atitude do Pessoal de Saúde , Atitude Frente a Saúde , Aconselhamento , Técnica Delphi , Feminino , Apoio Financeiro , Estilo de Vida Saudável , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação das Necessidades , Apoio Social , Adulto Jovem
10.
J Steroid Biochem Mol Biol ; 155(Pt B): 182-9, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25595043

RESUMO

Estrogen-like endocrine disrupting chemicals (EEDCs) can be found abundantly in the environment. Due to their low-dose effects and the large amount of unknown EEDCs, it is difficult to assess and manage possible human health risks. For young children, who are particularly vulnerable to endocrine disruption due to their development rate, indoor dust is one of the main routes of exposure. In this study, an estrogen responsive elements chemically activated luciferase gene expression (ERE-CALUX) bioassay was characterized and implemented for the analysis of 12 dust samples from kindergartens in Flanders and Brussels (Belgium). The human ovarian carcinoma BG 1CALUX cell line showed reproducible results and a low limit of detection (LOD). The effective concentration at 50% of the maximum response (EC50) yielded 497 fg/well, while the LOD was 16 fg/well. For all dust samples, full dose-response curves and their corresponding EC50 values could be calculated. All samples yielded bio-analytical equivalent concentrations (BEQs) that were significantly higher than the procedural blank level and ranged from 426 to 8710 pg E2 equivalents/g dust. A clear relationship was observed between a semi-quantitative interior score and the ERE-CALUX response of the samples. In addition, the concentration of phthalates, a major group of EEDCs used as plasticizers in plastics, was determined in the samples by GC-MS. Diisoheptyl phthalate (DiHP) and di(2-ethylhexyl) phthalate (DEHP) were present in every dust sample. A good correlation was found between ERE-CALUX activities and phthalate concentrations, when all phthalates except diisononyl phthalate (DiNP) and diisodecyl phthalate (DiDP), which do not bind to the estrogen receptor, were taken into account. This shows that the ERE-CALUX can provide relevant results concerning exposure to EEDCs from indoor dust. This article is part of a Special Issue entitled 'Endocrine disruptors & steroids'.


Assuntos
Bioensaio , Poeira/análise , Disruptores Endócrinos/farmacologia , Poluentes Ambientais/farmacologia , Ácidos Ftálicos/farmacologia , Plastificantes/farmacologia , Linhagem Celular Tumoral , Pré-Escolar , Disruptores Endócrinos/isolamento & purificação , Sistema Endócrino/efeitos dos fármacos , Sistema Endócrino/fisiologia , Poluentes Ambientais/isolamento & purificação , Cromatografia Gasosa-Espectrometria de Massas , Expressão Gênica/efeitos dos fármacos , Genes Reporter , Humanos , Luciferases/genética , Luciferases/metabolismo , Ácidos Ftálicos/isolamento & purificação , Plastificantes/isolamento & purificação , Elementos de Resposta , Sensibilidade e Especificidade
11.
Talanta ; 113: 99-105, 2013 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-23708629

RESUMO

Since the CALUX (Chemically Activated LUciferase gene eXpression) bioassay is a fast and inexpensive tool for the determination of dioxin-like compounds in a large number of samples and requires only small sample volumes, the use of this technique in human biomonitoring programs provides a good alternative to GC-HRMS. In this study, a new CALUX method for the separate analysis of PCDD/Fs and dioxin-like PCBs (dl-PCBs) in small amounts of human milk samples with the new sensitive H1L7.5c1 cell line was used to analyze 84 human milk samples, collected from mothers residing in the Flemish rural communities. The geometric mean CALUX-Bioanalytical Equivalent (CALUX-BEQ) values, reported for the 84 mothers from the study area were 10.4 (95% CI: 9.4-11.4) pg CALUX-BEQ per gram lipid or 0.41 (95% CI: 0.37-0.45) pg CALUX-BEQ per gram milk for the PCDD/Fs and 1.73 (1.57-1.91) pg CALUX-BEQ per gram lipid or 0.07 (95% CI: 0.06-0.08) pg CALUX-BEQ per gram milk for the dioxin-like PCBs. Multiple regression analysis showed significant associations between PCDD/Fs and weight change after pregnancy, smoking and consumption of local eggs. One pooled human milk sample was analyzed with both CALUX and GC-HRMS. The ratio of CALUX and GC-HRMS results for this sample were respectively 1.60, 0.58 and 1.23 for the PCDD/Fs, the dl-PCBs and the sum of both fractions, when using the 2005-TEF values. Additionally, also low levels of certain brominated dioxins and furans were detected in the pooled sample with GC-HRMS.


Assuntos
Benzofuranos/análise , Dioxinas/análise , Poluentes Ambientais/análise , Leite Humano/química , Bifenilos Policlorados/análise , Adulto , Animais , Bélgica , Benzofuranos/metabolismo , Bioensaio , Linhagem Celular Tumoral , Dioxinas/metabolismo , Monitoramento Ambiental , Poluentes Ambientais/metabolismo , Feminino , Cromatografia Gasosa-Espectrometria de Massas/métodos , Genes Reporter , Humanos , Luciferases de Vaga-Lume/genética , Camundongos , Mães , Bifenilos Policlorados/metabolismo , Receptores de Hidrocarboneto Arílico/metabolismo , Elementos de Resposta , População Rural , Adulto Jovem
12.
Environ Monit Assess ; 185(5): 4207-20, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-22983613

RESUMO

The techniques of diffusive equilibrium in thin films (DET) and diffusive gradients in thin films (DGT) were used in the outer section of Songkhla Lake, Thailand in order to obtain high-resolution profiles of total dissolved and labile trace metals in the sediment pore water and investigate benthic fluxes. Six DET probes and six DGT probes were deployed at the mouths of the Phawong, Samrong and U-Taphao canals. A close correspondence could be observed between the high-resolution profiles of Fe and As, revealing a close link between the reductive remobilization of Fe oxides and the reduction of As(V). Co and Ni DGT profiles showed a close correspondence with Mn, but a narrow mobilization zone. Reductive mobilization of Mn oxides and associated metals and sulfide precipitation control the behaviour of these metals. The DGT profiles of Cu, Zn, Cd and Pb show surface maximum, probably linked to organic matter degradation. Important benthic fluxes, especially for As, were found at the mouths of the U-Taphao and Phawong canals.


Assuntos
Monitoramento Ambiental/métodos , Sedimentos Geológicos/química , Metais/análise , Poluentes Químicos da Água/análise , Monitoramento Ambiental/instrumentação , Lagos , Tailândia
13.
Clin Endocrinol (Oxf) ; 78(2): 165-75, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23061808

RESUMO

Although most pheochromocytomas (PCCs) and paragangliomas (PGLs) are sporadic, molecular genetic medicine has revealed that a considerable number of patients with apparently sporadic PCC actually have a genetic predisposition to the development of these tumors. After decades of intensive research, several genes are now known to play an important role in the pathogenesis of PCC. At present, these are RET proto-oncogene, von Hippel-Lindau disease tumor suppressor gene (VHL), neurofibromatosis type 1 tumor suppressor gene (NF1), genes encoding the succinate dehydrogenase (SDH) complex subunits SDHB, SDHC, and SDHD, but also SDHA, the gene encoding the enzyme responsible for the flavination of SDHA (SDHAF2 or hSDH5), and the newly described TMEM127 and MAX tumor suppressor genes. In addition to these ten PCC susceptibility genes, two other genes, KIF1B and PHD2, have also been associated with PCC. Studying the pathogenesis and the molecular correlation of these mutations has revealed the existence of two main transcription signatures: a pseudohypoxic cluster (VHL and SDH mutations) and a cluster rich in kinase receptor signaling and their downstream pathways (RET, NF1, TMEM127, and MAX mutations). However, the general mechanism in the pathogenesis of a syndrome does not entirely apply in the particular pathogenesis of PCC as a manifestation of that syndrome. A better understanding of the complexity and high genetic diversity of PCC and PGL may lead to more efficient diagnosis and management of the disease.


Assuntos
Neoplasias das Glândulas Suprarrenais/genética , Predisposição Genética para Doença , Paraganglioma/genética , Feocromocitoma/genética , Regulação da Expressão Gênica/fisiologia , Variação Genética , Humanos , Proto-Oncogene Mas
14.
Internist (Berl) ; 53(4): 400-7, 2012 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-22388921

RESUMO

Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal-dominant hereditary disease characterized by the occurrence of tumors of the parathyroids, duodenum and/or pancreas, and anterior pituitary. The syndrome is caused by germline mutations of the MEN1 tumor suppressor gene. The identification of the causative mutations is of paramount importance for the long-term management of affected individuals and their relatives. Multiple endocrine neoplasia type 2 (MEN2) is less frequent than MEN1 and represents a cancer syndrome caused by autosomal-dominant inherited mutations of the RET proto-oncogene, and displays a genotype-phenotype correlation of remarkable clinical relevance. Major components of MEN-2 comprise medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism. Since 25-30% of patients with MTC display a hereditary background, genetic testing is indicated once MTC is diagnosed. Occurrence of MTC can be avoided by prophylactic thyroidectomy in early childhood in gene carriers. Early diagnosis and therapy of simultaneous pheochromocytoma avoids the development of complications caused by acute or chronic hypertension.


Assuntos
Predisposição Genética para Doença/genética , Predisposição Genética para Doença/prevenção & controle , Testes Genéticos/métodos , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2a/genética , Humanos , Neoplasia Endócrina Múltipla Tipo 1/terapia , Neoplasia Endócrina Múltipla Tipo 2a/terapia , Polimorfismo de Nucleotídeo Único/genética , Proto-Oncogene Mas
15.
Z Gastroenterol ; 49(7): 832-5, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21766262

RESUMO

Infections with Listeria monocytogenes can present clinically with a wide range of different organ manifestations such as gastroenteritis, meningoencephalitis or osteomyelitis, posing a serious threat, particularly to immunocompromised patients. We present the case of a 76-year-old female patient with advanced liver disease due to underlying haemochromatosis, who was admitted to the hospital with increasing abdominal pain. She was diagnosed with spontaneous bacterial peritonitis caused by infection with Listeria monocytogenes, which she had acquired after consuming contaminated cheese from a local supermarket chain. To the best of our knowledge, this is the first case to describe Listeria-induced spontaneous bacterial peritonitis in a patient with haemochromatosis. Both end-stage liver disease and hereditary haemochromatosis on their own impair the local and systemic immune response, thereby representing predisposing factors for acquiring Listeria monocytogenes infection. This case demonstrates a rare organ manifestation of Listeria monocytogenes infection, which can be life-threatening if not diagnosed and treated adequately, and underlines the need to identify possible sources of infection in order to apply measures to prevent the further spread of the contaminated food.


Assuntos
Doenças Transmitidas por Alimentos/complicações , Listeriose/complicações , Peritonite/etiologia , Idoso , Antibacterianos/uso terapêutico , Queijo/microbiologia , Feminino , Contaminação de Alimentos , Doenças Transmitidas por Alimentos/diagnóstico , Doenças Transmitidas por Alimentos/tratamento farmacológico , Humanos , Listeria monocytogenes , Listeriose/diagnóstico , Listeriose/tratamento farmacológico , Peritonite/diagnóstico , Peritonite/tratamento farmacológico
16.
Talanta ; 82(5): 1919-23, 2010 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-20875596

RESUMO

The speciation of Hg in human hair was carried out with combustion-atomic absorption spectrometry for total Hg (THg) and headspace-gas chromatography-atomic fluorescence spectrometry (HS-GC-AFS) for methylmercury (MMHg). The determination of total Hg in hair was carried out with the AMA analyzer (Advanced Mercury Analyser 254). Accuracy and reproducibility were assessed on a Certified Reference hair sample (IAEA-086 CRM), yielding, respectively, a recovery of 97.5% and a RSD of 3.2%. Analyses of 10 blank measurements resulted in a detection limit of 1.5 ng g(-1) of THg for a 20mg sample of human hair. MMHg concentrations in hair were assessed with HS-GC-AFS in a single analysis step. Either acid or alkaline extraction can be applied because they yielded very similar results on a IAEA-086 CRM: we observed a recovery of 103% and a RSD of 7% with acid extraction and a recovery of 110% and a RSD of 9% with alkaline extraction. Optimization of the headspace vial, injection and GC parameters is described. The detection limit of the MMHg determination in human hair, which amounts to 0.04 ng g(-1) for a 20mg sample, is far below the concentrations observed in natural samples. The number of samples that can be analyzed per hour, respectively, amounts to 8 for THg and 4 for MMHg. Finally, Hg speciation in natural human hair samples was carried out by combining both AMA and HS-GC-AFS analysis methods. THg levels were at the µg g(-1), level, with an average MMHg fraction of about 70%.


Assuntos
Exposição Ambiental/análise , Poluentes Ambientais/análise , Cabelo/química , Mercúrio/análise , Compostos de Metilmercúrio/análise , Adolescente , Adulto , Calibragem , Fracionamento Químico , Cromatografia Gasosa/métodos , Feminino , Humanos , Indicadores e Reagentes , Recém-Nascido , Padrões de Referência , Reprodutibilidade dos Testes , Espectrometria de Fluorescência/métodos , Espectrofotometria Atômica/métodos , Adulto Jovem
17.
Environ Pollut ; 158(7): 2439-45, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20434246

RESUMO

For several decades, phosphate ores containing (226)Ra as well as several trace metals have been processed in Belgium to produce calcium phosphate for use in cattle food. The waste water is discharged in two small rivers, the Laak and the Winterbeek. In this study, the levels of (226)Ra and trace metals in surface water and sediments of the Winterbeek were investigated and the mobility of these compounds was assessed using DGT (Diffusive Gradient in Thin Films) and sequential extraction techniques. The concentrations of (226)Ra and trace metals in water and sediment indicate a decreasing trend in inputs to the Winterbeek. The mobility of (226)Ra, assessed by DGT, is related to the reductive mobilization of Fe. The sequential extraction technique shows that at some stations an important fraction of (226)Ra is found to labile sediment phases. Diffusive (226)Ra sediment fluxes, are however, relatively small and have only a minor contribution to the water column concentration of (226)Ra.


Assuntos
Sedimentos Geológicos/análise , Rádio (Elemento)/análise , Oligoelementos/análise , Bélgica , Monitoramento Ambiental , Poluentes Químicos da Água/análise
18.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 35(5): 166-171, sept. 2008. tab
Artigo em Es | IBECS | ID: ibc-67926

RESUMO

Objetivo: Valorar la influencia de la analgesia vía epidural en la saturación de oxígeno fetal (SpO2) intraparto y los patrones de frecuencia cardíaca fetal. Material y métodos: Se realizó un estudio prospectivo con 50 gestantes a las que, durante el período de dilatación, se les administró analgesia por vía epidural, y que fueron monitorizadas mediante cardiotocografía y pulsioximetría fetal a través de una sonda Nellcor FS-14®. Resultados: El valor de SpO2 preepidural fue del 48,5 ± 7,8%. Durante los primeros 15 min postepidural se obtuvo la cifra de 47,4 ± 9,7 (p = NS), y la significación estadística se alcanzó a partir de los 30min posteriores a su instauración. En un 76% de los casos aparecieron alteraciones del registro cardiotocográfico en los primeros 120 min tras la perfusión analgésica. Conclusiones: La disminución de la saturación arterial de oxígeno a partir de los 30 min postepidural puede estar relacionada con la administración de analgésicos por vía epidural (AU)


Objective: To evaluate the influence of maternalepidural analgesia on fetal oxygen saturation (SpO2) and fetal heart rate (FHR) patterns during labor. Material and methods: We performed a prospective study in 50 pregnant women. During labor, epidural analgesia was administered and the women were monitored by means of cardiotocography (CTG) and fetal pulse oximetry, using a Nellcor FS-14® sensor. Results: The mean SpO2 value before analgesia administration was 48.5 ± 7.8%. During the first 15 minutes after administration, this value was 47.4 ± 9.7 (p: NS). A statistically significant decrease in SpO2 was found 30 minutes after initiation of epidural analgesia in 76 % of the patients, alterations in the CTG appeared during the first 120 minutes after maternal epidural analgesia. Conclusions: The decrease in SpO2 30 minutes after administration of epidural analgesia could be influenced by the use of epidural analgesic drugs (AU)


Assuntos
Humanos , Feminino , Gravidez , Analgesia Epidural/métodos , Analgesia Epidural/tendências , Frequência Cardíaca/fisiologia , Monitorização Fetal/métodos , Fentanila/farmacologia , Fentanila/uso terapêutico , Ruptura Prematura de Membranas Fetais/complicações , Analgesia Obstétrica/métodos , Analgesia Obstétrica/tendências , Frequência Cardíaca , Desenvolvimento Embrionário e Fetal/fisiologia , Sofrimento Fetal/fisiopatologia , Estudos Prospectivos
19.
Cienc. ginecol ; 9(4): 203-208, jul.-ago. 2005. tab
Artigo em Es | IBECS | ID: ibc-038952

RESUMO

Introducción: La prematuridad es la principalcausa de morbimortalidad perinatal. Existeun amplio espectro de factores de riesgo, algunosde ellos con mayor frecuencia en la poblacióninmigrante.Material y métodos: Estudio retrospectivode la incidencia de prematuridad, factores relacionadoscon el control de embarazo, parto ymorbilidad perinatal en un grupo de inmigrantesy otro de mujeres con nacionalidad española.Resultados: La incidencia de parto pretérminofue ligeramente superior en la población inmigrantesin alcanzar significación. La principaldiferencia entre ambos grupos fue el inadecuadocontrol prenatal observado en el grupoinmigrante y una menor utilización de la anestesiaepidural.Discusión: Aunque los factores asociados alparto prematuro son más frecuentes en poblacióninmigrante, la incidencia de parto prematuroy los resultados perinatales obtenidos eneste estudio son similares en ambos grupos


Introduction: Preterm delivery is the first;;obstetric factor associated to perinatai morbimortality.;;There are many risk factors, most of;;them with a high incidence in immigrant population.;;Patients and method: Retrospective study;;of preterm delivery incidence, factors related to;;pregnancy survelilance, labor and perinatal;;morbidity in an immigrant group and another;;of spanish nationality pregnant women.;;Results: Preterm delivery was slightly higher;;in immigrant population without statistical significance.;;The main difference between two;;groups was inadequate prenatal surveillance in;;immigrant group and a lesser use of epidural;;analgesia.;;Comment: Although factors related to preterm;;delivery are frequent in immigrant population,;;preterm delivery incidence and perinatal;;outcome are similar in both groups


Assuntos
Feminino , Gravidez , Humanos , Trabalho de Parto Prematuro/etnologia , Trabalho de Parto Prematuro/etiologia , Emigração e Imigração/estatística & dados numéricos , Analgesia Epidural/estatística & dados numéricos , Analgesia Epidural/tendências , Recém-Nascido Prematuro/fisiologia , Fatores de Risco , Estudos Retrospectivos , Obstetrícia/normas
20.
Cienc. ginecol ; 9(4): 209-214, jul.-ago. 2005. tab
Artigo em Es | IBECS | ID: ibc-038953

RESUMO

Se plantea como objetivo conocer la influenciadel orden al nacimiento en el resultado obstétricode los gemelos, analizando variables relacionadascon el parto. Se estudian retrospectivamente266 parejas de gemelos, valorando elpH y el test de Apgar al nacimiento.El primer gemelo presenta mejores resultadosperinatales. Las variables que influyen sobrelas diferencias de pH son: intervalo de tiempoal nacimiento, diferencia de peso entre ambosgemelos y el peso medio. En el Indice de Apgaral minuto influyen la diferencia de peso ylas interacciones del tiempo de gestación con elpeso medio y la diferencia de peso. El test alquinto minuto se ve influido por la diferenciade peso y el peso medio.Existen diferencias en el resultado neonatalentre las parejas de gemelos, siendo la variableque muestra una influencia más constante, ladiferencia de peso entre ambos fetos


The objective of the study was to investigate;;the effect of birth order on obstetric outcome of;;twin pregnancies, analyzing delivery-related;;variables. 266 pairs of twin babies were studied;;retrospectively, recording umbilical cord blood;;pH and Apgar score at birth.;;The first twin had a better perinatal outcome.;;Variables that led to cord blood pH differences;;were: Time interval in twin delivery,;;weight difference between twins, and mean fetal;;weight. 1 minute Apgar score differences;;are related to weight difference between twins;;and intereactions between gestational age, mean;;fetal weight and weight difference between;;twins. 5 minutes Apgar score was influenced by;;weight difference between twins and mean fetal;;weight. There were differences in neonatal;;outcome between twins, and the variable that;;show a more constant influence is weight difference;;between twins


Assuntos
Feminino , Gravidez , Humanos , Gravidez Múltipla/genética , Gravidez Múltipla/fisiologia , Índice de Apgar , Gêmeos/genética , Gemelaridade Monozigótica/genética , Estudos Retrospectivos , Idade Gestacional , Peso ao Nascer/fisiologia
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