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1.
BMJ Open ; 14(2): e074680, 2024 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-38355174

RESUMO

INTRODUCTION: Lung cancer (LC) is the most common cause of cancer-related deaths worldwide. Its early detection can be achieved with a CT scan. Two large randomised trials proved the efficacy of low-dose CT (LDCT)-based lung cancer screening (LCS) in high-risk populations. The decrease in specific mortality is 20%-25%.Nonetheless, implementing LCS on a large scale faces obstacles due to the low number of thoracic radiologists and CT scans available for the eligible population and the high frequency of false-positive screening results and the long period of indeterminacy of nodules that can reach up to 24 months, which is a source of prolonged anxiety and multiple costly examinations with possible side effects.Deep learning, an artificial intelligence solution has shown promising results in retrospective trials detecting lung nodules and characterising them. However, until now no prospective studies have demonstrated their importance in a real-life setting. METHODS AND ANALYSIS: This open-label randomised controlled study focuses on LCS for patients aged 50-80 years, who smoked more than 20 pack-years, whether active or quit smoking less than 15 years ago. Its objective is to determine whether assisting a multidisciplinary team (MDT) with a 3D convolutional network-based analysis of screening chest CT scans accelerates the definitive classification of nodules into malignant or benign. 2722 patients will be included with the aim to demonstrate a 3-month reduction in the delay between lung nodule detection and its definitive classification into benign or malignant. ETHICS AND DISSEMINATION: The sponsor of this study is the University Hospital of Nice. The study was approved for France by the ethical committee CPP (Comités de Protection des Personnes) Sud-Ouest et outre-mer III (No. 2022-A01543-40) and the Agence Nationale du Medicament et des produits de Santé (Ministry of Health) in December 2023. The findings of the trial will be disseminated through peer-reviewed journals and national and international conference presentations. TRIAL REGISTRATION NUMBER: NCT05704920.


Assuntos
Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/epidemiologia , Inteligência Artificial , Detecção Precoce de Câncer/métodos , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Ensaios Clínicos Controlados Aleatórios como Assunto
3.
Rev. Fac. Nac. Salud Pública ; 34(2): 175-183, ago. 2016. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-957168

RESUMO

Objetivo: presentar un Estado del Arte sobre el contenido de las políticas públicas de salud mental vigentes en Suramérica, con el propósito de establecer un panorama de los alcances y limitaciones de la normatividad sobre el tema en la región. Metodología:Estudio documental de enfoque hermenéutico mediante el cual se interpretó y explicó las relaciones entre los contenidos de las políticas públicas de salud mental y el contexto de los países suramericanos. Para el análisis se incluyeron documentos normativos de los países, tales como Acuerdos, Resoluciones y Leyes. Igualmente, se utilizaron publicaciones académicas en el periodo comprendido entre 2003 a 2013, que posibilitaron la descripción y el análisis del tema de investigación. Resultados: países como Colombia, Argentina, Paraguay, Brasil, Perú, Ecuador y Uruguay cuentan con disposiciones normativas vigentes (acuerdos, resoluciones y leyes) que sustentan el contenido de las políticas públicas en materia de salud mental. Por otra parte, Chile, Bolivia y Venezuela fundamentan sus políticas en mecanismos administrativos (programas, planes y proyectos) sin apelar a la norma de obligatorio cumplimiento. Conclusión: la noción de salud mental que subyace a cada Política Nacional hace énfasis en la promoción de la salud y la prevención de la enfermedad, desde una concepción positiva del bienestar que resalta el papel activo de los sujetos y poblaciones, las capacidades y libertades disponibles; sin embargo, los recursos, estrategias, acciones y metas están orientados sobre la base de un modelo biomédico que prioriza el diagnóstico y el tratamiento de trastornos mentales


Objective: to present the state of the art regarding the content of the public mental health policies currently in force in South America in order to establish an overview of the scope and limitations of the regulations on the subject in the region. Methodology: a documentary study with a hermeneutic approach explaining the relationships between the contents of the public policies for mental health and the context of the South American countries. For the analysis, we included normative documents of the countries, e.g. agreements, resolutions and acts. Similarly, academic papers from the period between 2003 and 2013 were included. These made it possible to describe and analyze the research subject. Results: countries such as Colombia, Argentina, Paraguay, Brazil, Peru, Ecuador and Uruguay have current regulations (agreements, resolutions and acts) supporting the content of public policies in regards to mental health. On the other hand, Chile, Bolivia and Venezuela base their policies on administrative mechanisms (programs, plans and projects) without enforcing mandatory compliance. Conclusion: the notion of mental health underlying each national policy emphasizes health promotion and prevention equally, and is based on a positive conception of well-being that highlights the active role of subjects and populations as well as the capabilities and liberties available. Nevertheless, their resources, strategies, actions and goals are based on a biomedical model that prioritizes the diagnosis and treatment of mental disorders.


Objetivo: apresenta um Estado da Arte sobre o conteúdo das políticas públicas de saúde mental em vigor na América do Sul, com o objetivo de estabelecer o panorama da abrangência e das limitações das normas sobre esta temática, na região. Metodologia: estudo documental de abordagem hermenêutica que foi interpretado e explicou as relações entre o conteúdo das políticas públicas de saúde mental e do contexto dos países da América do Sul. Para a análise foram incluídos documentos normativos dos países, tais como acordos, resoluções e leis. Da mesma forma, publicações acadêmicas foram utilizados no período de 2003 a 2013, que permitiu a descrição e análise do tema de pesquisa. Resultados: países como a Colômbia, a Argentina, o Paraguai, o Brasil, o Peru, o Equador e o Uruguai têm disposições regulamentares em vigor (acordos, resoluções e leis) que suportam o conteúdo das políticas públicas relacionadas com a saúde mental. Por outro lado, o Chile, a Bolívia e a Venezuela fundamentam as suas políticas em mecanismos administrativos (programas, planos e projetos), sem ter uma regra de cumprimento obrigatório. Conclusão: a noção de saúde mental que que subjaz cada Política Nacional enfatiza na promoção da saúde e da prevenção da doença, partindo de uma concepção positiva do bem-estar, ressaltando a função ativa dos sujeitos e das populações, as capacidades e as liberdades disponíveis. Porém, os recursos, as estratégias, as ações e as metas estão orientadas sobre a base de um modelo biomédico, priorizando o diagnóstico e tratamento de transtornos mentais.

4.
J Clin Endocrinol Metab ; 100(6): E926-35, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25853793

RESUMO

CONTEXT: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of primary adrenal Cushing's syndrome (CS). ARMC5 germline mutations have been identified recently in PBMAH. OBJECTIVE: To determine the prevalence of ARMC5 mutations and analyze genotype-phenotype correlation in a large cohort of unrelated PBMAH patients with subclinical or clinical CS. PATIENTS AND METHODS: ARMC5 was sequenced in 98 unrelated PBMAH index cases. PBMAH was identified by bilateral adrenal nodular enlargement on computed tomography scan. The effect on apoptosis of ARMC5 missense mutants was tested in H295R and HeLa cells. Clinical and hormonal data were collected including midnight and urinary free cortisol levels, ACTH, androgens, renin/aldosterone ratio, cortisol after overnight dexamethasone suppression test, cortisol and 17-hydroxyprogesterone after ACTH 1-24 stimulation and illegitimate receptor responses. Computed tomography and histological reports were analyzed. RESULTS: ARMC5-damaging mutations were identified in 24 patients (26%). The missense mutants and the p.F700del deletion were unable to induce apoptosis in both H295R and HeLa cell lines, unlike the wild-type gene. ARMC5-mutated patients showed an overt CS more frequently, compared to wild-type patients: lower ACTH, higher midnight plasma cortisol, urinary free cortisol, and cortisol after dexamethasone suppression test (P = .003, .019, .006, and <.001, respectively). Adrenals of patients with mutations were bigger and had a higher number of nodules (P = .001 and <.001, respectively). CONCLUSIONS: ARMC5 germline mutations are common in PBMAH. Index cases of mutation carriers show a more severe hypercortisolism and larger adrenals. ARMC5 genotyping may help to identify clinical forms of PBMAH better and may also allow earlier diagnosis of this disease.


Assuntos
Doenças do Córtex Suprarrenal/genética , Glândulas Suprarrenais/patologia , Mutação de Sentido Incorreto , Proteínas Supressoras de Tumor/genética , Doenças do Córtex Suprarrenal/epidemiologia , Adulto , Idoso , Proteínas do Domínio Armadillo , Células Cultivadas , Estudos de Coortes , Síndrome de Cushing/epidemiologia , Síndrome de Cushing/genética , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética , Células HeLa , Humanos , Hiperplasia/genética , Hiperplasia/patologia , Masculino , Pessoa de Meia-Idade
5.
Eur J Hum Genet ; 22(2): 283-5, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23778871

RESUMO

Germline mutations of the MEN1 gene cause multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder characterized by tumors of the parathyroids, the pancreas, and the anterior pituitary. Paraganglioma (PGL) is a rare endocrine tumor, which can be sporadic or genetically determined. To date, PGL has never been reported as a feature of MEN1.We report here a patient presenting three features of MEN1 syndrome (hyperparathyroidism, pancreatic neuroendocrine tumor, and adrenocortical adenoma) associated with PGL. Genetic analysis of MEN1 gene revealed a new missense mutation in exon 5 (AGGAAG), causing the substitution of arginine by lysine at codon 275. Screening for other genetic disorders (SDHx, TMEM127, MAX, CDKN1B) causing PGL was negative. Immunohistochemical analyses showed normal levels of succinate dehydrogenase (SDH)A and SDHB in the PGL. The proband's sister, bearing the mutation, had primary hyperparathyroidism. It was the first typical MEN1 syndrome reported with an extra-adrenal PGL.


Assuntos
Anormalidades Múltiplas/diagnóstico , Neoplasias do Córtex Suprarrenal/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico por imagem , Paraganglioma/diagnóstico por imagem , Proteínas Proto-Oncogênicas/genética , Anormalidades Múltiplas/genética , Neoplasias do Córtex Suprarrenal/genética , Análise Mutacional de DNA , Feminino , Humanos , Mutação de Sentido Incorreto , Neoplasias Pancreáticas/genética , Paraganglioma/genética , Linhagem , Radiografia , Síndrome
6.
Investig. andin ; 13(23): 268-280, sept. 2011.
Artigo em Inglês, Espanhol | LILACS | ID: lil-595417

RESUMO

Objetivo: caracterizar el riesgo suicida y depresión en internos de una cárcel deldepartamento del Quindío (Colombia). Metodología: se utilizó una metodología descriptiva-relacional y un diseño no experimental; se seleccionó una muestra de 34 reclusos entre los 18-51 años de acuerdo a criterios de inclusión y exclusión a quienes se les suministraron los cuestionarios ISO 30 e IDB. Resultados: más del 75% de los internos presentan riesgo suicida moderado o alto; el 56% reporta sintomatología depresiva grave y moderada. Se halló importante correlación entre estas dos variables. En la sub escala de afrontamiento de la ISO-30 se encontró una media de 8,81, lo que la ubica con resultados significativos; las medias restantes están en valores medios. Conclusión: es significativo determinar factores de riesgo en esta población y fortalecer la investigación en este campo desde un enfoque interdisciplinario, lo cual facilitará la identificación precoz y prevención de la conducta suicida.


Introduction: characterize the risk of suicide and depression among a group ofinmates in a jail in the state of Quindio (Colombia). Methods: a relational-descriptive methodology was used along with a non experimental design; ISO-30 and IDB surveys were distributed among a sample of 34 inmates between the ages of 18 – 51, who were selected according to inclusion and exclusion criteria. Results: more than 75% of the inmates presented a moderate to high risk of suicide; 56% reported depressive symptoms in a moderate to high degree. An important correlation among these two variables was found. The confrontation sub scale of the ISO-30 yielded a mean of 8.81, which places it with significant results; the remaining results are among median values. Conclusion: it is significant to determine risk factors in this population andstrengthen the investigation in this field, from an interdisciplinary focus, which willfacilitate an early detection and prevention of suicidal contact.


Assuntos
Humanos , Depressão , Prisões , Suicídio
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