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2.
AJNR Am J Neuroradiol ; 41(4): 639-644, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32165366

RESUMO

BACKGROUND AND PURPOSE: The increased severity of white matter disease is associated with worse outcomes and an increased rate of intracerebral hemorrhage in patients with ischemic stroke undergoing thrombolytic treatment. However, whether white matter disease is associated with outcomes in patients undergoing endovascular treatment remains unclear. MATERIALS AND METHODS: In this prespecified exploratory analysis of our prospective multi-institutional study that enrolled consecutive adult patients with anterior circulation ischemic stroke undergoing endovascular treatment from November 2017 to September 2018, we compared the following outcomes between patients with none-to-minimal (van Swieten score, 0-2) and moderate-to-severe (van Swieten score, 3-4) white matter disease using logistic regression: 90-day mRS 3-6, death, intracerebral hemorrhage, successful recanalization, and early neurologic recovery. RESULTS: Of the 485 patients enrolled in the Blood Pressure after Endovascular Stroke Therapy (BEST) study, 389 had white matter disease graded (50% women; median age, 68 years; range, 58-79 years). A van Swieten score of 3-4 (n = 74/389, 19%) was associated with a higher rate of 90-day mRS of 3-6 (45% versus 18%; adjusted OR, 2.73; 95% CI, 1.34-5.93; P = .008). Although the death rate was higher in patients with van Swieten scores of 3-4 (26% versus 15%), the adjusted likelihood was not significantly different (adjusted OR, 1.14; 95% CI, 0.56-2.26; P = .710). Ordered regression revealed a shift toward worse mRS scores with increasing van Swieten scores (adjusted common OR, 3.04; 95% CI, 1.93-4.84; P < .001). No associations between white matter disease severity and intracerebral hemorrhage, successful recanalization, and early neurologic recovery were observed. CONCLUSIONS: Moderate-to-severe white matter disease is associated with worse outcomes in patients undergoing endovascular treatment without a significant increase in hemorrhagic complications. Studies comparing patients with and without endovascular treatment are necessary to determine whether the benefit of endovascular treatment is attenuated with greater white matter disease.


Assuntos
Leucoencefalopatias/complicações , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/cirurgia , Trombectomia/métodos , Resultado do Tratamento , Idoso , Isquemia Encefálica/complicações , Procedimentos Endovasculares/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
3.
J Prev Med Hyg ; 60(4): E300-E310, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31967087

RESUMO

OBJECTIVES: The aim was to provide an affordable method of computing socio-economic (SE) deprivation indices at the regional level, in order to reveal the specific aspects of the relationship between SE inequalities and health outcomes. The Umbria Region Socio-Health Index (USHI) was computed and compared with the Italian National Deprivation Index at the Umbria regional level (NDI-U). METHODS: The USHI was computed by applying factor analysis to census tract SE variables correlated with general mortality and validated through comparison with the NDI-U. RESULTS: Overall mortality presented linear positive trends in USHI, while trends in NDI-U proved non-linear or non-significant. Similar results were obtained with regard to specific causes of death according to deprivation groups, gender and age. CONCLUSIONS: The USHI better describes a local population in terms of health-related SE status. Policy-makers could therefore adopt this method in order to obtain a better picture of SE-associated health conditions in regional populations and to target strategies for reducing health inequalities.


Assuntos
Disparidades nos Níveis de Saúde , Mortalidade , Saúde Pública , Características de Residência , Classe Social , Fatores Socioeconômicos , Adolescente , Adulto , Idoso , Causas de Morte , Criança , Pré-Escolar , Feminino , Recursos em Saúde , Humanos , Lactente , Recém-Nascido , Itália , Masculino , Pessoa de Meia-Idade , Adulto Jovem
5.
Nutr Metab Cardiovasc Dis ; 27(11): 956-963, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28967595

RESUMO

BACKGROUND AND AIMS: Metabolic factors initiating adipose tissue expansion and ectopic triglyceride accumulation are not completely understood. We aimed to investigate the independent role of circulating glucose, NEFA and insulin on glucose and NEFA uptake, and lipogenesis in skeletal muscle and subcutaneous adipose tissue (SCAT). METHODS AND RESULTS: Twenty-two pigs were stratified according to four protocols: 1) and 2) low NEFA + high insulin ± high glucose (hyperinsulinaemia-hyperglycaemia or hyperinsulinaemia-euglycaemia), 3) high NEFA + low insulin (fasting), 4) low NEFA + low insulin (nicotinic acid). Positron emission tomography with [18F]fluoro-2-deoxyglucose and [11C]acetate, was combined with [14C]acetate and [U-13C]palmitate enrichment techniques to assess glucose and lipid metabolism. Hyperinsulinaemia increased glucose extraction, whilst hyperglycaemia enhanced glucose uptake in skeletal muscle and SCAT. In SCAT, during hyperglycaemia, elevated glucose uptake was accompanied by greater [U-13C]palmitate-TG enrichment compared to the other groups, and by a 39% increase in de novo lipogenesis (DNL) compared to baseline, consistent with a 70% increment in plasma lipogenic index. Conversely, in skeletal muscle, [U-13C]palmitate-TG enrichment was higher after prolonged fasting. CONCLUSIONS: Our data show the necessary role of hyperglycaemia-hyperinsulinaemia vs euglycaemia-hyperinsulinaemia in promoting expansion of TG stores in SCAT, by the consensual elevation in plasma NEFA and glucose uptake and DNL. In contrast, skeletal muscle NEFA uptake for TG synthesis is primarily driven by circulating NEFA levels. These results suggest that a) prolonged fasting or dietary regimens enhancing lipolysis might promote muscle steatosis, and b) the control of glucose levels, in association with adequate energy balance, might contribute to weight loss.


Assuntos
Glicemia/metabolismo , Ácidos Graxos não Esterificados/sangue , Insulina/sangue , Lipogênese , Músculo Esquelético/metabolismo , Gordura Subcutânea/metabolismo , Triglicerídeos/biossíntese , Animais , Biópsia , Modelos Animais de Doenças , Ácidos Graxos não Esterificados/administração & dosagem , Hiperglicemia/sangue , Hiperinsulinismo/sangue , Insulina/administração & dosagem , Lipogênese/efeitos dos fármacos , Masculino , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/efeitos dos fármacos , Tomografia por Emissão de Pósitrons , Gordura Subcutânea/diagnóstico por imagem , Gordura Subcutânea/efeitos dos fármacos , Sus scrofa , Fatores de Tempo
6.
Med. interna Méx ; 33(5): 682-689, sep.-oct. 2017. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-894310

RESUMO

Resumen Gran parte de los pacientes con mieloma múltiple inician con signos y síntomas relacionados con la infiltración de células plasmáticas o el exceso de cadenas ligeras kappa. La enfermedad renal es común con enfermedad heterogénea que puede involucrar diferentes mecanismos. Se comunica el caso de un paciente con sospecha de mieloma múltiple debido a la existencia de lumbalgia, insuficiencia renal, anemia e hipercalcemia; con electroforesis de proteínas séricas negativa para hipergammaglobulinemia, en quien se confirmó el diagnóstico al demostrar la existencia de cadenas ligeras kappa en tejido renal; se realiza una revisión de la bibliografía actual.


Abstract Much of the patients with multiple myeloma present with signs and symptoms related to plasma cells infiltration or by the excess of kappa light chains. Kidney disease is common and has a heterogeneous pathophysiology that may involve different mechanisms. We present the case of a patient with suspected multiple myeloma because of low back pain, renal failure, anemia and hypercalcemia; without hipergammaglobulinemia in the electrophoresis, in whom the diagnosis was confirmed by the presence of kappa chains light in renal tissue; a review of current literature is made.

7.
AJNR Am J Neuroradiol ; 38(10): 1905-1910, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28838913

RESUMO

BACKGROUND AND PURPOSE: Limited information is available regarding differences in neuroimaging use for acute stroke work-up. Our objective was to assess whether race, sex, or age differences exist in neuroimaging use and whether these differences depend on the care center type in a population-based study. MATERIALS AND METHODS: Patients with stroke (ischemic and hemorrhagic) and transient ischemic attack were identified in a metropolitan, biracial population using the Greater Cincinnati/Northern Kentucky Stroke Study in 2005 and 2010. Multivariable regression was used to determine the odds of advanced imaging use (CT angiography/MR imaging/MR angiography) for race, sex, and age. RESULTS: In 2005 and 2010, there were 3471 and 3431 stroke/TIA events, respectively. If one adjusted for covariates, the odds of advanced imaging were higher for younger (55 years or younger) compared with older patients, blacks compared with whites, and patients presenting to an academic center and those seen by a stroke team or neurologist. The observed association between race and advanced imaging depended on age; in the older age group, blacks had higher odds of advanced imaging compared with whites (odds ratio, 1.34; 95% CI, 1.12-1.61; P < .01), and in the younger group, the association between race and advanced imaging was not statistically significant. Age by race interaction persisted in the academic center subgroup (P < .01), but not in the nonacademic center subgroup (P = .58). No significant association was found between sex and advanced imaging. CONCLUSIONS: Within a large, biracial stroke/TIA population, there is variation in the use of advanced neuroimaging by age and race, depending on the care center type.


Assuntos
Disparidades em Assistência à Saúde/estatística & dados numéricos , Neuroimagem/estatística & dados numéricos , Acidente Vascular Cerebral/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , População Negra , Feminino , Humanos , Ataque Isquêmico Transitório/diagnóstico por imagem , Ataque Isquêmico Transitório/epidemiologia , Masculino , Pessoa de Meia-Idade , Razão de Chances , Acidente Vascular Cerebral/epidemiologia , População Branca
9.
Hum Vaccin Immunother ; 12(9): 2419-21, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27070956

RESUMO

The intussusception is one of the most frequent causes of occlusive syndrome in infants and in children. (1) The mesenteric lymphadenopathy, wich is very rare post rotavirus vaccination, can cause intussusception, (2-5) especially in genetically predisposed individuals. (6) There is an association between intussusception and some classes of genotype. (7-9) Two infants aged 3 months, vaccinated against rotavirus. After about a week, one of the 2 identical infants presented inconsolable crying, vomiting, loose stools mixed with blood, and was diagnosed with bowel obstruction with intussusception. He was operated in urgency. After a few hours, his brother presented vomiting, and was admitted to our Hospital for suspected intussusception. The controls carried out have confirmed the presence of intussusception that was treated early, before the onset of severe symptoms. The incidence of post rotavirus vaccine intussusception is very low. The determining factor hypothetically might be linked to the presence of a genotype that exposes infants to a greater risk of developing mesenteric lymphadenitis and intussusception. In our case, the diagnosis of intussusception occurred in a twin, which allowed us to recognize early symptoms which accused the brother and schedule the surgery with less urgency. Our experience may want to sensitize families and pediatricians to report cases of intussusception given a theoretical familiar association. The study of the genotype could be decisive for or not to exclude the presence of a risk of invagination, thus avoiding vaccination.


Assuntos
Intussuscepção/induzido quimicamente , Intussuscepção/patologia , Vacinas contra Rotavirus/administração & dosagem , Vacinas contra Rotavirus/efeitos adversos , Humanos , Lactente , Intussuscepção/cirurgia , Masculino , Gêmeos Monozigóticos
10.
Eur J Surg Oncol ; 42(2): 260-5, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26723169

RESUMO

AIM: The number of examined lymph nodes (NLN) was associated with survival of stages II and III colorectal cancer (CRC) patients. Guidelines recommend examining at least 12 lymph nodes. This study investigated the influence of surgical specimen length on lymph node harvest and compliance with international guidelines. MATERIALS AND METHODS: This population-based study included 4,724 cases of surgically treated CRC that were diagnosed from 2002 to 2008. Multivariate analyses were performed for the main study variables (age, gender, diagnosis at screening or in symptomatic patients, cancer site, staging, grading, number of positive nodes, neo-adjuvant treatment for rectal cancer, hospital were surgery was performed). Fractional polynomial models investigated the relationship between continuous variables and outcomes. RESULTS: The NLN increased over time reaching ≥12 NLN in 64% of cases at the end of the study period. More NLN were associated with young age, right colon cancer, pT3-T4 disease, stages II and III and high grade. Fewer NLN were associated with short surgical specimen length and neo-adjuvant treatment in rectal cancer patients. Use of laparoscopy increased sharply over time. CONCLUSIONS: NLN increased over time in accordance with international guidelines. Surgical specimen length correlated with NLN which may determine therapeutic choices, particularly in stage II colon cancer. When harvested lymph nodes are under 10 in number and all are negative, chemotherapy is always recommended. As specimen lengths <20 cm were associated with a high risk of inadequate NLN counts, patients are at risk of over-treatment.


Assuntos
Neoplasias do Colo/patologia , Linfonodos/patologia , Neoplasias Retais/patologia , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Colo Ascendente , Neoplasias do Colo/cirurgia , Feminino , Humanos , Excisão de Linfonodo , Linfonodos/cirurgia , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Guias de Prática Clínica como Assunto , Neoplasias Retais/cirurgia , Fatores Sexuais
11.
Rev Clin Esp (Barc) ; 216(5): 288, 2016.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-26708226
12.
Arch Soc Esp Oftalmol ; 90(12): 562-5, 2015 Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-26279484

RESUMO

OBJECTIVE: To determine the importance of intratumoral genetic analysis in the diagnosis of germ-line mutations in patients with retinoblastoma. To underline the importance of performing these genetic tests in every case of retinoblastoma. METHOD: Intratumoral genetic analysis of RB1 mutation was performed on 17 enucleated eyes that were non-responsive to conservative treatment. Patients had no family history of retinoblastoma, and lesions were always single. The identified mutations were then also studied in peripheral blood analysis. RESULTS: There were 12 (70.6%) cases with positive results in intratumoral analysis. In 8 cases (47.1%) mutation of both RB1 alelli were detected, and in 4 (23.5%) cases only one allele was found mutated. In 5 patients (29.4%) no mutation was identified. In the first hit, mutations comprised 7 frameshift or nonsense and 2 splice, whereas in the second hit, one splice mutation, 2 nonsense and 8 loss of heterozygosity were identified. Among 6 patients where intratumoral analysis detected a single mutation associated with a loss of heterozygosity, the peripheral blood analysis was able to detect the same mutation in 3 cases (50%). CONCLUSIONS: Intratumoral genetic analysis of sporadic retinoblastoma can detect germ-line mutations. These patients are at higher risk of bilateralization and development of second tumors or trilateral retinoblastoma. Genetic screening is recommended in every patient diagnosed with retinoblastoma.


Assuntos
Neoplasias Oculares/genética , Mutação , Retinoblastoma/genética , Alelos , Análise Mutacional de DNA , Enucleação Ocular , Neoplasias Oculares/sangue , Neoplasias Oculares/química , Neoplasias Oculares/cirurgia , Genes do Retinoblastoma , Testes Genéticos , Mutação em Linhagem Germinativa , Humanos , Perda de Heterozigosidade , Proteínas de Neoplasias/sangue , Proteínas de Neoplasias/genética , Especificidade de Órgãos , Retinoblastoma/sangue , Retinoblastoma/química , Retinoblastoma/cirurgia , Proteínas de Ligação a Retinoblastoma/análise , Proteínas de Ligação a Retinoblastoma/sangue , Proteínas de Ligação a Retinoblastoma/genética , Proteína do Retinoblastoma/sangue , Proteína do Retinoblastoma/genética , Ubiquitina-Proteína Ligases/análise , Ubiquitina-Proteína Ligases/sangue , Ubiquitina-Proteína Ligases/genética
13.
Artigo em Inglês | MEDLINE | ID: mdl-26262244

RESUMO

Determining the priority of attention in an Emergency Room (ER) has always been a difficult issue. Priority is determined with a simple triage system as people arrive at the hospital. It is important to establish how long they can wait for treatment. In order to obtain the best assessment of patients' conditions, we built a Nursing Software for Emergency Triage (NSET). The objective of this work was to assess the efficacy of the NSET versus the triage process without any software (TWS). Results showed that the NSET we built was a substantial help. With this software, we decreased significantly:1) the length of the triage system process, 2) the waiting time of patients in the waiting room, 3) the number of complaints and 4) the number of patients who walk away. In conclusion, the NSET improves and helps to define more accurately a patient's risk. NSET helps in the emergency department triage.


Assuntos
Sistemas de Apoio a Decisões Clínicas , Enfermagem em Emergência/métodos , Software , Triagem/métodos , Enfermagem em Emergência/estatística & dados numéricos , Serviço Hospitalar de Emergência/estatística & dados numéricos , Humanos
14.
Arch Soc Esp Oftalmol ; 90(9): 414-20, 2015 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-25817468

RESUMO

OBJECTIVE: To analyze the genetic alterations identified in the RB1 gene in retinoblastoma patients who do not respond to systemic chemotherapy. METHODS: A genetic analysis was performed on 115 patients with retinoblastoma, 40 of whom had received systemic chemotherapy, and 29 of them had bilateral disease. Descriptive and retrospective study. Non-responders were considered as patients who are finally enucleated. RESULTS: Patients with deletion type mutations are those with less preservation of the eyeball (Pearson Chi-square, P=.055). Patients with an impaired nonsense-frameshift type are more likely to preserve the eyeball. Of the 3 patients who had undergone bilateral enucleation, 2 of them had deletions and one missense alteration. Survival analysis (Kaplan-Meier curve) shows that patients with deletion type mutations are more resistance to chemotherapy, are suffering higher rates of enucleation, and for a shorter period of time (log rank [Mantel-Cox] with a significance level of P=.053), which are also associated with increased rate of being bilateral. CONCLUSIONS: Patients with a genotype show increased resistance to chemotherapy should be evaluated more closely and treated with various therapeutic weapons early. Patients that have deletions in the RB1 gene are at increased risk of chemoresistance. It is likely that other genetic alterations other than RB1 gene may be related to tumor aggressiveness and treatment resistance.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Mutação , Neoplasias da Retina/genética , Proteínas de Ligação a Retinoblastoma/genética , Retinoblastoma/genética , Ubiquitina-Proteína Ligases/genética , Análise Mutacional de DNA , Resistencia a Medicamentos Antineoplásicos , Enucleação Ocular , Feminino , Genótipo , Humanos , Estimativa de Kaplan-Meier , Masculino , Invasividade Neoplásica , Neoplasias Primárias Múltiplas/tratamento farmacológico , Neoplasias Primárias Múltiplas/genética , Neoplasias Primárias Múltiplas/cirurgia , Modelos de Riscos Proporcionais , Neoplasias da Retina/tratamento farmacológico , Neoplasias da Retina/cirurgia , Retinoblastoma/tratamento farmacológico , Retinoblastoma/cirurgia , Estudos Retrospectivos , Deleção de Sequência
15.
Actas Urol Esp ; 39(7): 456-9, 2015 Sep.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-25724753

RESUMO

INTRODUCTION: Linear Shock Wave Therapy (LSWT) is a new noninvasive therapy that uses low-intensity shock waves to induce local angiogenesis promising modality in the treatment of erectile dysfunction (ED). OBJECTIVE: To evaluate the effectiveness of LSWT in men with vasculogenic erectile dysfunction (ED), in a Tertiary Care Center. MATERIAL AND METHODS: Included 15 men aged 45-70 years, sexually active with mild and moderate vascular ED evaluated with the International Index of Erectile Function (IIEF). The study was conducted in three stage: screening, treatment and results. Treatment stage: 4 weekly sessions LSWT (RENOVA ®) 5000 waves (.09mJ/mm(2)). Erectile function was assessed with IIEFF-EF, SEP (Sexual Encounter Profile) and GAQ (Global Assessment Questions) at one and six months after treatment. RESULTS: The rate of success was 80% (12/15). Patients with mild ED (6/15) 40% and moderate ED (9/15) 60%. We found a positive association between IIEF-Basal (average 14.23 pts) and IIEF at one month and six months after therapy (19.69 pts) a difference of 5.46 pts. (P<.013). CONCLUSIONS: The feasibility and tolerability of this treatment, and rehabilitation potential features, make it this an attractive new treatment option for patients with ED.


Assuntos
Impotência Vasculogênica/terapia , Terapia por Ultrassom , Idoso , Humanos , Masculino , Pessoa de Meia-Idade
16.
Br J Cancer ; 111(9): 1810-3, 2014 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-25290092

RESUMO

BACKGROUND: Month of birth influences the risk of developing several diseases. We investigated the influence of date of birth on melanoma skin cancer (MSC) and non-melanoma skin cancer (NMSC) incidence. METHODS: Enhanced cancer registry data were analysed including 1751 MSC and 15 200 NMSC. RESULTS: People born in February to April showed significantly elevated risks of NMSC compared with those born in summertime. CONCLUSIONS: We demonstrated seasonality by date of birth for skin cancer incidence. Neonatal UV exposure may explain this finding.


Assuntos
Carcinoma Basocelular/epidemiologia , Carcinoma de Células Escamosas/epidemiologia , Melanoma/epidemiologia , Parto , Estações do Ano , Neoplasias Cutâneas/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Itália/epidemiologia , Masculino , Estadiamento de Neoplasias , Prognóstico , Fatores de Risco , Melanoma Maligno Cutâneo
17.
Nutrition ; 30(2): 177-85, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24377452

RESUMO

OBJECTIVE: Insulin resistance (IR) and white adipose tissue (WAT) dysfunction frequently are associated with nonalcoholic fatty liver disease (NAFLD); however, the pathogenic mechanisms contributing to their clustering are not well defined. The aim of this study was to define some nutritional, anthropometric, metabolic, and genetic mechanisms contributing to their clustering. METHODS: Forty-five (20 men, 25 women) patients (age 45.7 ± 11.1 y) with recent diagnosis of NAFLD were grouped according to IR state. Energy balance was assessed using a food questionnaire and indirect calorimetry, and body composition with anthropometry and dual-energy x-ray absorptiometry. Biochemical and hormonal parameters combined with adipose tissue gene expression were determined. Microarray analysis of gene expression was performed in a subset of WAT samples from IR patients (n = 9), in the fasted state, after specific test meals (monounsaturated fatty acid [MUFA], saturated fat [SAT], and carbohydrate-rich) and after being challenged with insulin. RESULTS: IR patients exhibited higher trunk fat to leg fat ratio (P < 0.05) and had a higher ratio of SAT/MUFA fat intake (P < 0.05) than insulin-sensitive (IS) individuals. Deposition of fat in the trunk but not in the leg was directly related to liver enzyme levels (P < 0.05). IR patients also had lower adiponectin serum levels and leptin (LEP) mRNA expression in WAT compared with IS patients (P < 0.01 and P < 0.05, respectively). Microarray analysis after insulin challenge confirmed that insulin treatment induces the expression of PPARG gene and LEP and decreases GCGR gene (P < 0.05 for all) in WAT. No changes in these genes were observed in the postprandial state induced after the acute effect of specific diets. CONCLUSIONS: Patients exhibiting NAFLD and IR had preferential central fat deposition directly related to their serum alanine aminotransferase levels. These patients showed peripheral adipose tissue dysfunction and exhibited inappropriately low LEP biosynthesis that could be partially restored after anabolic conditions induced by insulin signaling.


Assuntos
Tecido Adiposo Branco/metabolismo , Fígado Gorduroso/genética , Comportamento Alimentar , Expressão Gênica , Resistência à Insulina/genética , Obesidade Abdominal/genética , Absorciometria de Fóton , Adiponectina/sangue , Adulto , Composição Corporal , Índice de Massa Corporal , Estudos Cross-Over , Carboidratos da Dieta/administração & dosagem , Metabolismo Energético , Ácidos Graxos/administração & dosagem , Ácidos Graxos Monoinsaturados/administração & dosagem , Fígado Gorduroso/dietoterapia , Feminino , Humanos , Insulina/sangue , Interleucina-6/sangue , Leptina/sangue , Masculino , Pessoa de Meia-Idade , Hepatopatia Gordurosa não Alcoólica , Estado Nutricional , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Ensaios Clínicos Controlados Aleatórios como Assunto , Inquéritos e Questionários , Fator de Necrose Tumoral alfa/sangue
19.
Arch Soc Esp Oftalmol ; 89(1): 4-9, 2014 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-24269417

RESUMO

OBJETIVE: To determine the correlation between the presence of genetic anomalies identified in the RB1 gene and the development of trilateral retinoblastoma. METHOD: No patients with primitive neuroectodermal tumour (PNET) were identified out of a total of 206 patients, but there were 17 cases of pineal cysts, of which 11 had a genetic study. RESULTS: Of the 11 patients who had a genetic study performed, the anomaly in the germinal line was identified in 8 cases, which was equivalent to 100% of the bilateral retinoblastomas, and 25% of the unilateral ones. It is more common to find a germinal mutation in patients with bilateral disease (P=.024). There are no significant differences in the type of anomaly identified, although the nonsense-frameshift type is more frequent in cases with bilateral involvement. Identification of the genetic anomaly is more frequent in patients who have pineal cysts (Fisher test; P=.490). Nine of the 17 patients received systemic chemotherapy (52.29% of the cases), which could be able to prevent the development of PNET. Although a certain trend was observed in all the mentioned parameters, there was a relationship between, the presence of pineal cysts and bilateral disease (Pearson Chi X2: P=.191), a known family history (Fisher test; P=.114) and age of early diagnosis (Fisher test; P=.114). There were no significant differences in the mutation type identified. CONCLUSIONS: Considering pineal cysts as a pre-malignant form of pinealoblastoma, we found a relationship between the germinal line mutation of the RB1 gene and the cases with bilateral or unilateral retinoblastoma.


Assuntos
Cistos/genética , Genes do Retinoblastoma , Mutação em Linhagem Germinativa , Neoplasias Primárias Múltiplas/genética , Glândula Pineal/patologia , Neoplasias da Retina/genética , Retinoblastoma/genética , Adenoma/epidemiologia , Adenoma/genética , Antineoplásicos/uso terapêutico , Malformação de Arnold-Chiari/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/prevenção & controle , Malformações Vasculares do Sistema Nervoso Central/genética , Cistos/epidemiologia , Cistos/patologia , Mutação da Fase de Leitura , Humanos , Neoplasias Primárias Múltiplas/patologia , Tumores Neuroectodérmicos Primitivos/genética , Tumores Neuroectodérmicos Primitivos/prevenção & controle , Pinealoma/genética , Pinealoma/prevenção & controle , Neoplasias Hipofisárias/genética , Lesões Pré-Cancerosas/genética , Lesões Pré-Cancerosas/patologia , Estudos Retrospectivos
20.
Eur J Gynaecol Oncol ; 35(6): 631-4, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25556266

RESUMO

To investigate the risk of developing multiple primary cancers (MPCs) in patients with previous gynaecological malignancies (cervical, uterine, and ovarian). The study's subjects included all the women on the Umbrian Cancer Registry who were first diagnosed with gynaecological cancer between 1994 and 2009. MPCs were defined according to the rules defined by International Association of Cancer Registries (IACR) and International Agency for Research on Cancer (IARC). Standardized incidence ratios (SIRs) of observed to expected cases were used as the measure of relative risk; its significance and 95% confidence intervals were determined assuming a Pois- son distribution. During the analysed period, the authors observed a total of 346 cases of MPCs in women with cervix (54 cases), corpus of uterus (196 cases), and ovarian (96 cases) malignancies. Significant SIRs were found in all of them, considering all sites combined: 2.43 (95% CI: 1.87-3.14) for cervix, 1.75 (95% CI: 1.52-2.01) for corpus of uterus, and 2.32 (95% CI: 1.90-2.84) for ovary malignancies, with different site-specific risks. Current data confirmed an excess risk of MPCs among women with gynaecological malignancies compared to the general population. The observed site-specific associations are useful to investigate shared risk factors and set up specific follow-up patients.


Assuntos
Neoplasias dos Genitais Femininos/epidemiologia , Neoplasias Primárias Múltiplas/epidemiologia , Sistema de Registros , Idoso , Feminino , Neoplasias dos Genitais Femininos/etiologia , Humanos , Itália/epidemiologia , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/etiologia
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