Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 45
Filtrar
1.
Entropy (Basel) ; 25(2)2023 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-36832559

RESUMO

Avoiding the use of mathematical formalism, this essay exposes the quantum mechanics phenomenon of nonlocality in terms of a metaphor involving human twins, focused on their hands' dexterity attribute.

2.
BMJ ; 372: n84, 2021 01 20.
Artigo em Inglês | MEDLINE | ID: mdl-33472855

RESUMO

OBJECTIVE: To determine whether tocilizumab improves clinical outcomes for patients with severe or critical coronavirus disease 2019 (covid-19). DESIGN: Randomised, open label trial. SETTING: Nine hospitals in Brazil, 8 May to 17 July 2020. PARTICIPANTS: Adults with confirmed covid-19 who were receiving supplemental oxygen or mechanical ventilation and had abnormal levels of at least two serum biomarkers (C reactive protein, D dimer, lactate dehydrogenase, or ferritin). The data monitoring committee recommended stopping the trial early, after 129 patients had been enrolled, because of an increased number of deaths at 15 days in the tocilizumab group. INTERVENTIONS: Tocilizumab (single intravenous infusion of 8 mg/kg) plus standard care (n=65) versus standard care alone (n=64). MAIN OUTCOME MEASURE: The primary outcome, clinical status measured at 15 days using a seven level ordinal scale, was analysed as a composite of death or mechanical ventilation because the assumption of odds proportionality was not met. RESULTS: A total of 129 patients were enrolled (mean age 57 (SD 14) years; 68% men) and all completed follow-up. All patients in the tocilizumab group and two in the standard care group received tocilizumab. 18 of 65 (28%) patients in the tocilizumab group and 13 of 64 (20%) in the standard care group were receiving mechanical ventilation or died at day 15 (odds ratio 1.54, 95% confidence interval 0.66 to 3.66; P=0.32). Death at 15 days occurred in 11 (17%) patients in the tocilizumab group compared with 2 (3%) in the standard care group (odds ratio 6.42, 95% confidence interval 1.59 to 43.2). Adverse events were reported in 29 of 67 (43%) patients who received tocilizumab and 21 of 62 (34%) who did not receive tocilizumab. CONCLUSIONS: In patients with severe or critical covid-19, tocilizumab plus standard care was not superior to standard care alone in improving clinical outcomes at 15 days, and it might increase mortality. TRIAL REGISTRATION: ClinicalTrials.gov NCT04403685.


Assuntos
Anti-Inflamatórios/uso terapêutico , Anticorpos Monoclonais Humanizados/uso terapêutico , Tratamento Farmacológico da COVID-19 , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , COVID-19/diagnóstico , COVID-19/mortalidade , COVID-19/terapia , Estado Terminal , Feminino , Seguimentos , Hospitalização , Humanos , Infusões Intravenosas , Masculino , Pessoa de Meia-Idade , Respiração Artificial , Índice de Gravidade de Doença , Resultado do Tratamento , Adulto Jovem
3.
Rev Med Interne ; 39(11): 875-878, 2018 Nov.
Artigo em Francês | MEDLINE | ID: mdl-30224098

RESUMO

INTRODUCTION: Epithelioid hemagioendothelioma (HHE) is a rare mesenchymal tumor of vascular origin and epithelial appearance, which develops like angiosarcoma to mimic endothelial cells. According to the literature, its prognosis is variable and remains unpredictable. CASE REPORT: We report a 72-year-old man who presented with an inflammatory pain in the left lower limb. Several osteolytic lesions involving the knee, the upper third of the tibia, the medial malleolus and the left calcaneus were identified. The diagnosis HHE was obtained by histological examination of a bone sample. The patient died after 5 months, despite taxol chemotherapy. CONCLUSION: No therapeutic behavior is standardized in this uncommon type of cancer.


Assuntos
Neoplasias Ósseas/diagnóstico , Hemangioendotelioma Epitelioide/diagnóstico , Idoso , Neoplasias Ósseas/patologia , Hemangioendotelioma Epitelioide/patologia , Humanos , Masculino , Tomografia por Raios X
4.
Br J Surg ; 104(11): 1462-1469, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28895143

RESUMO

BACKGROUND: Intraoperative ultrasonography during open surgery for colorectal cancer may be useful for the detection of unrecognized liver metastases. Laparoscopic ultrasonography (LUS) for the detection of unrecognized liver metastasis has not been studied in a randomized trial. This RCT tested the hypothesis that LUS would change the TNM stage and treatment strategy. METHODS: Patients with colorectal cancer and no known metastases were randomized (1 : 1) to laparoscopic examination (control or laparoscopy plus LUS) in three Danish centres. Neither participants nor staff were blinded to the group assignment. RESULTS: Three hundred patients were randomized, 150 in each group. After randomization, 43 patients were excluded, leaving 128 in the control group and 129 in the LUS group. Intraoperative T and N categories were not altered by LUS, but laparoscopy alone identified previously undetected M1 disease in one patient (0·8 per cent) in the control group and three (2·3 per cent) in the LUS group. In the latter group, LUS suggested that an additional six patients (4·7 per cent) had M1 disease with liver (4) or para-aortal lymph node (2) metastases. The change in treatment strategy was greater in the LUS than in the control group (7·8 (95 per cent c.i. 3·8 to 13·8) and 0·8 (0 to 4·2) per cent respectively; P = 0·010), but the suspected M1 disease was benign in half of the patients. CONCLUSION: Routine LUS during resection of colorectal cancer is not recommended. Registration number: NCT02079389 (http://www.clinicaltrials.gov).


Assuntos
Neoplasias Colorretais/diagnóstico por imagem , Neoplasias Colorretais/cirurgia , Laparoscopia , Cuidados Pré-Operatórios , Idoso , Idoso de 80 Anos ou mais , Aorta Abdominal/diagnóstico por imagem , Tomada de Decisão Clínica , Neoplasias Colorretais/patologia , Feminino , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/secundário , Metástase Linfática/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Neoplasias Peritoneais/diagnóstico por imagem , Neoplasias Peritoneais/secundário , Estudos Prospectivos
5.
AJNR Am J Neuroradiol ; 37(11): 2003-2009, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27390321

RESUMO

BACKGROUND AND PURPOSE: The interpretation of the radiologic response of bevacizumab-treated patients with recurrent high-grade gliomas represents a unique challenge. Delayed-contrast MR imaging was recently introduced for calculating treatment-response-assessment maps in patients with brain tumors, providing clear separation between active tumor and treatment effects. We studied the application of standard and delayed-contrast MR imaging for assessing and predicting the response to bevacizumab. MATERIALS AND METHODS: Twenty-four patients with recurrent high-grade gliomas were scanned before and during bevacizumab treatment by standard and delayed-contrast MR imaging. The mean change in lesion volumes of responders (overall survival, ≥1 year) and nonresponders (overall survival, <1 year) was studied. The lesion volumes at baseline and the changes in lesion volumes 1 month after treatment initiation, calculated from standard and delayed-contrast MRIs, were studied as possible predictors of outcome. In scans acquired at progression, the average change in lesion volume from previous follow-up in standard and delayed-contrast MRIs was compared. RESULTS: Response and progression patterns were identified from the mean change in lesion volumes, depicted from conventional T1WI, delayed contrast-enhanced MR imaging, and DSC MR imaging. Thresholds for early prediction of response were calculated by using these sequences. For each predictor, sensitivity, specificity, positive predictive values, and negative predictive values were calculated, reaching 85.7%, 87.5%, 75%, and 93.3% for conventional T1WI; 100%, 87.5%, 77.8%, and 100% for delayed-contrast MR imaging; and 75%, 78.6%, 50%, and 91.7% for DSC MR imaging. The benefit of delayed-contrast MR imaging in separating responders and nonresponders was further confirmed by using log-rank tests (conventional T1WI, P = .0022; delayed-contrast MR imaging, P < .0001; DSC MR imaging, P = .0232) and receiver operating characteristic analyses. At progression, the increase in lesion volumes in delayed-contrast MR imaging was 37.5% higher than the increase in conventional T1WI (P < .01); these findings suggest that progression may be depicted more effectively in treatment-response-assessment maps. CONCLUSIONS: The benefit of contrast-enhanced MR imaging for assessing and predicting the response to bevacizumab was demonstrated. The increased sensitivity of the treatment-response-assessment maps reflects their potential contribution to the management of bevacizumab-treated patients with recurrent high-grade glioma.

6.
Prog Urol ; 25(3): 169-74, 2015 Mar.
Artigo em Francês | MEDLINE | ID: mdl-25614076

RESUMO

The post-surgical septic arthritis of the pubic symphysis is a rare infection, often unrecognized because sometimes it is difficult to diagnose. It should be suspected in the presence of pelvic pain with fever and sometimes lameness or painful radiation to the lower limbs but the symptoms can be misleading. We report 3 cases of post surgical septic arthritis of the pubic symphysis to illustrate it. Differential diagnoses are numerous and additional tests not always specific. Computed tomography (CT) and magnetic resonance imaging (MRI) examinations are essential to substantiate the diagnosis or to guide sampling. The appropriate antibiotic treatment against the identified germ, which is extended at least six weeks, will most often, when started early, allow the healing though pain can persist for several months.


Assuntos
Artrite Infecciosa , Complicações Pós-Operatórias/microbiologia , Sínfise Pubiana , Idoso , Artrite Infecciosa/diagnóstico , Artrite Infecciosa/tratamento farmacológico , Feminino , Humanos , Masculino , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/tratamento farmacológico
7.
Nanotechnology ; 25(37): 375502, 2014 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-25158791

RESUMO

We report a highly flexible strain sensor which exploits the piezoelectric properties of ultra-long gallium nitride (GaN) wires. Langmuir-Blodgett assembled wires are encapsulated in a dielectric material (parylene-C), which is sandwiched between two planar electrodes in a capacitor-like configuration. Through FEM simulations we show that encapsulating densely aligned conical wires in a properly designed dielectric layer can maximize the amplitude of the generated piezoelectric output potential. According to these considerations we designed and fabricated macroscopic flexible strain sensors (active area: 1.5 cm(2)). The sensor was actuated in three point configuration inducing curvature radii of less than 10 cm and has a typical force sensitivity of 30 mV N(-1).

8.
Rev. chil. pediatr ; 84(3): 268-275, jun. 2013. tab
Artigo em Espanhol | LILACS | ID: lil-687183

RESUMO

Introducción: La insuficiencia renal aguda (IRA) es una enfermedad grave y causante de disfunciones de órganos distantes que incrementan su mortalidad. Objetivo: Identificar disfunción hemodinámica y respiratoria gatillada por IRA en un modelo pediátrico animal de isquemia-reperfusión renal. Método: Doce cerdos anestesiados (11,9 +/- 1,0 kg). En seis animales se indujo lesión renal bilateral por isquemia-reperfusión: 45 min de isquemia y 240 min de reperfusión, mientras que los seis animales restantes fueron grupo control. En condiciones basales y posterior a lesión renal se realizó monitorización hemodinámica convencional y termodilución transpulmonar. Paralelamente se midió gasometría arterial y análisis de mecánica pulmonar. Resultados: Hubo un incremento de la precarga volumétrica en 29 por ciento (221 +/- 22 ml/m² vs 286 +/- 16 ml/m², p = 0,04) y de la presión arterial media en 58 por ciento (71 +/- 6 mmHg vs 112 +/- 17 mmHg, p = 0,04) respecto a controles, sin cambios en frecuencia cardíaca, presión venosa central ni gasto cardíaco. Además ocurrió un aumento del agua extravascular pulmonar en 86 por ciento (7,6 +/- 0,6 ml/kg vs 14,1 +/- 1,4 ml/kg, p = 0,02), sin cambios en intercambio gaseoso ni mecánica pulmonar. Simultáneamente hubo un leve deterioro de la creatinina sérica (1,12 +/- 0,07 mg/dL vs 1,45 +/- 0,10 mg/dL, p = 0,03). Discusión: En este modelo experimental se pudo apreciar el desarrollo temprano de disfunción hemodinámica y pulmonar. Se evidenció un aumento de la precarga volumétrica y de la presión arterial, asociado a un incremento substancial del agua extravascular pulmonar. Creemos que es fundamental monitorizar de forma seriada la función hemodinámica y respiratoria en sujetos con una lesión renal aguda, aún sin una IRA urémica.


Background: Acute kidney injury (AKI) is a serious disease that can cause distant organ injuries and is associated with high mortality rates. Objective: To identify the hemodynamic and respiratory dysfunction triggered by AKI, in an animal model of renal ischemia-reperfusion. Method: Twelve anesthetized juvenile pigs (11.9 +/- 1.0 kg). Six animals underwent ischemia/reperfusion-induced AKI: 45 min of ischemia and 240 minutes of reperfusion, while the remaining six animals were the control group. In basal conditions and after AKI, a conventional hemodynamic monitoring and transpulmonary thermodilution were performed. At the same time, arterial blood gases and lung mechanics were measured. Results: There was a 29 percent increase in volumetric preload (221 +/- 22 ml/m² vs 286 +/- 16 ml/m², p = 0.04) and a 58 percent mean arterial pressure increase (71 +/- 6 mmHg vs 112 +/- 17 mmHg, p = 0.04) compared to controls, without changes in heart rate, central venous pressure and cardiac output. In addition, an increase of 86 percent in extravascular lung water (7.6 +/- 0.6 ml/kg vs 14.1 +/- 1.4 ml/ kg, p = 0.02) was reported, without changes in gas exchange and lung mechanics. Simultaneously, a slight increase in serum creatinine (1.12 +/- 0.07 mg/dl vs 1.45 +/- 0.10 mg/dl, p = 0.03) was described. Discussion: An early development of hemodynamic and pulmonary dysfunction was observed in this experimental reperfusion model. An increase in volumetric preload and blood pressure associated with a substantial increase in the extravascular lung water were also reported. It is essential serially monitor the hemodynamic and respiratory functions in AKI, including nonuremic subjects.


Assuntos
Animais , Traumatismo por Reperfusão/complicações , Pneumopatias/etiologia , Injúria Renal Aguda/complicações , Gasometria , Débito Cardíaco , Modelos Animais de Doenças , Pneumopatias/fisiopatologia , Hemodinâmica , Pulmão/fisiopatologia , Mecânica Respiratória , Rim/fisiopatologia , Suínos
9.
Nanotechnology ; 23(49): 495501, 2012 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-23165395

RESUMO

The biofunctionalization of nanoelectromechanical systems (NEMS) is critical for the development of new classes of biosensors displaying improved performance and higher levels of integration. In this paper we propose a modified microcontact process (µCP) in order to biofunctionalize arrays of NEMS with a probe molecule on the active sensing areas together with an anti-fouling layer on the passive areas in a single, self-aligned step. We demonstrate the adequate functionalization/anti-fouling of arrays of freestanding nanocantilevers as dense as 10(5) nanostructures cm(-2) by using both fluorescence microscopy and dynamic measurements of the structures' resonant frequency. The proper bioactivity of an antibody deposited onto the cantilevers and the blocking property of a bovine serum albumin layer are both assessed by incubating specific and non-specific tagged secondary antibodies followed by fluorescence imaging. Furthermore, measurement of the resonant frequency of the nanocantilevers before and after functionalization and biological recognition demonstrate that using µCP for device functionalization does not damage the nanostructures and preserves the mechanical sensing capability of our NEMS.


Assuntos
Técnicas Biossensoriais/instrumentação , Imunoensaio/instrumentação , Sistemas Microeletromecânicos/instrumentação , Análise em Microsséries/instrumentação , Impressão Molecular/métodos , Nanopartículas/química , Nanotecnologia/instrumentação , Desenho de Equipamento , Análise de Falha de Equipamento
10.
Rev. chil. pediatr ; 83(5): 454-461, oct. 2012. ilus
Artigo em Espanhol | LILACS | ID: lil-662212

RESUMO

Introduction: Abdominal compartment syndrome (ACS) is a severe and under-reported condition among the pediatric population due to inadequate warning and recognition. It can be caused by medical and surgical reasons, resulting in a high mortality rate. objective: To determine the magnitude of the initial hemodynamic and respiratory consequences triggered by the induction of ACS in an experimental model. Methods: The model consisted of twelve anesthetized pigs (4.8 +/- 0.1 kg). The ACS was induced by instillation of colloid solution in the peritoneal cavity to obtain an intra-abdominal pressure (IAP) of 24.9 +/- 0.6 mmHg. In basal conditions and after the ACS induction, a conventional hemodynamic monitoring and transpulmonary thermodilution were performed. At the same time, arterial blood gases and lung mechanics analysis were measured. results: There was a reduction of cardiac output by 16 percent (5.19 +/- 0.33 to 4.34 +/- 0.28 l/min/m², p = 0.01) and abdominal perfusion pressure by 20 percent (72.3 +/- 3.2 to 57.3 +/- 4.0 mmHg, p <0.001) without changes in heart rate, arterial or central venous pressure. In addition there was an approximately 50 percent worsening of respiratory system compliance (1.28 +/- 0.09 to 0.62 +/- 0.04 ml/cmH2O/kg, p = 0.002) associated with a significant increase in intrathoracic pressure and slight decrease in oxygenation. Discussion: In this experimental model, the early development of hemodynamic and pulmonary dysfunction could be observed. A reduction of cardiac output that was not detected by conventional monitoring and a substantial deterioration of lung mechanics, characteristic of restrictive disease, associated with mild alterations in gas exchange were reported. It is essential then to monitor the IAP in patients predisposed to develop ACS, especially in the case of organ dysfunction deterioration, as severe hypotension and hypoxemia are late signs of this complication.


Introducción: El síndrome compartimental abdominal (SCA) es una entidad grave, de escaso reporte en población pediátrica por una inadecuada alerta y reconocimiento. Puede ser originado por causas médicas y quirúrgicas, presentando una elevada mortalidad. objetivo: Determinar la magnitud de las consecuencias hemodinámicas y respiratorias iniciales desencadenadas por la inducción de un SCA en un modelo experimental. Método: Doce cerdos anestesiados (4,8 +/- 0,1 kg). El SCA fue inducido con instilación de solución coloide en cavidad peritoneal para obtener una presión intra-abdominal (PIA) de 25 +/- 5 mmHg. En condiciones basales y posterior a inducción del SCA se realizó monitorización hemodinámica convencional y termodilución transpulmonar. Paralelamente se midió gasometría arterial y análisis de mecánica pulmonar. resultados: Hubo una reducción del gasto cardíaco en 16 por ciento (5,19 +/- 0,33 a 4,34 +/- 0,28 l/min/m², p = 0,01) y de la presión de perfusión abdominal en 20 por ciento (72,3 +/- 3,2 a 57,3 +/- 4,0 mmHg, p < 0,001) sin cambios en frecuencia cardiaca, presión arterial y venosa central. Además ocurrió un deterioro de la compliance del sistema respiratorio cercana al 50 por ciento (1,28 +/- 0,09 a 0,62 +/- 0,04 ml/cmH2O/kg, p = 0,002) asociado a un incremento significativo en las presiones intratorácicas y disminución leve de la oxigenación. Discusión: En este modelo experimental se pudo apreciar el desarrollo temprano de disfunción hemodinámica y pulmonar. Se evidenció una reducción de gasto cardiaco no detectado por la monitorización convencional y un deterioro substancial de la mecánica pulmonar, propia de una enfermedad restrictiva, asociado a alteraciones leves del intercambio gaseoso. Creemos que es fundamental monitorizar la PIA en pacientes predispuestos a desarrollar un SCA, más aún ante empeoramiento de disfunciones orgánicas dado que la hipotensión e hipoxemia grave son signos tardíos de esta complicación.


Assuntos
Animais , Hipertensão Intra-Abdominal/fisiopatologia , Pulmão/fisiopatologia , Modelos Animais de Doenças , Baixo Débito Cardíaco/fisiopatologia , Hemodinâmica , Pressão , Suínos , Sistema Respiratório/fisiopatologia
11.
J Neuroendocrinol ; 23(2): 118-28, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21108672

RESUMO

The effect of daily varied stress from days 13-21 of gestation in Wistar rats was investigated by tests of learning and memory and anxiogenic behaviour in the 60-day-old offspring of both sexes. Prenatal stress decreased the anogenital distance in males at 1 day of age. Anxiogenic behaviour in the elevated plus maze was seen in prenatally-stressed rats of both genders. There was no significant gender difference in the rate of spatial learning in the Morris water maze but prenatal stress only slowed that of males. In the object recognition test with an inter-trial interval of 40 min, females but not males, discriminated between a familiar and novel object. Prenatal stress did not affect object discrimination in females but feminised that in males. Maternal adrenalectomy with replacement of basal corticosterone levels in the drinking fluid prevented all of the above effects of prenatal stress in the offspring. To mimic the peak corticosterone levels and time course of elevation in response to stress, corticosterone (3 mg/kg) was injected twice (0 and 30 min) on days 13-16 and once on days 17-20 of gestation to adrenalectomised mothers. This treatment re-instated anxiogenic behaviour similar to that induced by prenatal stress, indicating that it is mediated by exposure of the foetal brain to raised levels of corticosterone. However, steroid administration to adrenalectomised dams did not decrease anogenital distance, feminise object recognition memory or slow spatial learning in their male offspring. The findings indicate that other adrenal hormones are necessary to induce these effects of prenatal stress.


Assuntos
Corticosterona/fisiologia , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Estresse Psicológico/fisiopatologia , Estresse Psicológico/psicologia , Adrenalectomia/métodos , Animais , Peso ao Nascer/efeitos dos fármacos , Peso ao Nascer/fisiologia , Corticosterona/sangue , Corticosterona/farmacologia , Discriminação Psicológica/efeitos dos fármacos , Discriminação Psicológica/fisiologia , Feminino , Tamanho da Ninhada de Vivíparos/efeitos dos fármacos , Tamanho da Ninhada de Vivíparos/fisiologia , Masculino , Aprendizagem em Labirinto/efeitos dos fármacos , Aprendizagem em Labirinto/fisiologia , Gravidez , Ratos , Ratos Wistar , Reconhecimento Psicológico/efeitos dos fármacos , Reconhecimento Psicológico/fisiologia , Caracteres Sexuais , Estresse Psicológico/sangue
13.
Rev Mal Respir ; 26(3): 257-65, 2009 Mar.
Artigo em Francês | MEDLINE | ID: mdl-19367199

RESUMO

OBJECTIVE: To compare the one year survival after discharge from ICU of patients with chronic obstructive pulmonary disease (COPD) admitted for acute hypercapnic respiratory failure and who required mechanical ventilation. METHODS: Retrospective cohort study on 130 patients, 52 patients were treated with non-invasive ventilation (NIV) and 78 patients with conventional mechanical ventilation (CMV). RESULTS: In 73 patients the cause for respiratory failure could not be identified. Long-term survival was significantly better following NIV than with CMV (p=0.02 by log-rank testing), but the better prognosis associated with use of NIV was not found in patients with no documented cause for the respiratory failure. After adjusting for male gender, age>65 years, simplified acute physiology score II>35, prior long-term home oxygen therapy, treatment with steroids, FEV1<30% of predicted value, body-mass index<21 kg/m2, albumin level<30 g/L, right ventricular failure, ventilator-associated pneumonia and cause of respiratory failure, NIV remained independently associated with better outcomes (adjusted hazard ratio 0.55; 95% CI 0.31-0.97; p=0.04). CONCLUSIONS: Our results suggest that in COPD patients requiring mechanical ventilation and who survived after an ICU stay, the use of NIV is an independent factor associated with a better long-term survival, especially in those with a documented cause of respiratory failure.


Assuntos
Doença Pulmonar Obstrutiva Crônica/mortalidade , Doença Pulmonar Obstrutiva Crônica/terapia , Respiração Artificial/métodos , Idoso , Estudos de Coortes , Feminino , França/epidemiologia , Humanos , Unidades de Terapia Intensiva , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
14.
Mol Psychiatry ; 13(10): 980-8, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17893705

RESUMO

Evidence both from animal and human studies suggests that common polymorphisms in the oxytocin receptor (OXTR) gene are likely candidates to confer risk for autism spectrum disorders (ASD). In lower mammals, oxytocin is important in a wide range of social behaviors, and recent human studies have shown that administration of oxytocin modulates behavior in both clinical and non-clinical groups. Additionally, two linkage studies and two recent association investigations also underscore a possible role for the OXTR gene in predisposing to ASD. We undertook a comprehensive study of all 18 tagged SNPs across the entire OXTR gene region identified using HapMap data and the Haploview algorithm. Altogether 152 subjects diagnosed with ASDs (that is, DSM IV autistic disorder or pervasive developmental disorder--NOS) from 133 families were genotyped (parents and affected siblings). Both individual SNPs and haplotypes were tested for association using family-based association tests as provided in the UNPHASED set of programs. Significant association with single SNPs and haplotypes (global P-values <0.05, following permutation test adjustment) were observed with ASD. Association was also observed with IQ and the Vineland Adaptive Behavior Scales (VABS). In particular, a five-locus haplotype block (rs237897-rs13316193-rs237889-rs2254298-rs2268494) was significantly associated with ASD (nominal global P=0.000019; adjusted global P=0.009) and a single haplotype (carried by 7% of the population) within that block showed highly significant association (P=0.00005). This is the third association study, in a third ethnic group, showing that SNPs and haplotypes in the OXTR gene confer risk for ASD. The current investigation also shows association with IQ and total VABS scores (as well as the communication, daily living skills and socialization subdomains), suggesting that this gene shapes both cognition and daily living skills that may cross diagnostic boundaries.


Assuntos
Adaptação Psicológica/fisiologia , Transtorno Autístico/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Receptores de Ocitocina/genética , Atividades Cotidianas , Adolescente , Adulto , Transtorno Autístico/psicologia , Criança , Pré-Escolar , Feminino , Frequência do Gene , Genótipo , Humanos , Lactente , Inteligência/genética , Masculino , Adulto Jovem
15.
Plant Physiol Biochem ; 44(4): 242-7, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16777426

RESUMO

Callose ((1,3)-beta-glucan) is important during basic developmental processes of plants, but only little is known about the regulation of callose biosynthesis on molecular level. Growing evidence indicates that glucan synthase-like (GSL) genes in higher plants are involved in callose synthesis. We analyzed the expression of eight GSL genes (TaGSL) as well as callose synthase activity and total callose content in the stem, leaf blade and spike of wheat (Triticum aestivum L.). Organ-specific expression of six TaGSL genes and strong differences in expression levels were detected by quantitative real-time PCR. Differences were also determined in callose synthase (EC 2.4.1.34) activity and total amount of callose in the examined organs. Aniline blue staining in tissue sections localized callose depositions. These results allow a comprehensive reflection of callose regulation, considering gene expression, enzyme activity and enzyme product quantification as well as localization. Our data suggests that callose synthesis is highly regulated by a combination of GSL genes, which are involved either in general or in organ-specific developmental processes.


Assuntos
Regulação da Expressão Gênica de Plantas , Glucanos/metabolismo , Glucosiltransferases/genética , Glucosiltransferases/metabolismo , Triticum/enzimologia , Regulação Enzimológica da Expressão Gênica , Glucanos/análise , Glucanos/biossíntese , Dados de Sequência Molecular , Especificidade de Órgãos , Folhas de Planta/metabolismo , Caules de Planta/metabolismo , Triticum/citologia , Triticum/genética
16.
Mol Psychiatry ; 11(5): 488-94, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16520824

RESUMO

We examined three microsatellites in the arginine vasopressin 1a receptor gene (AVPR1a), two in the promoter region (RS1 and RS3) and an intronic microsatellite (AVR), for association with autism as well as scores on the Vineland Adaptive Behavior Scale (VABS), the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Scale-Generic (ADOS-G), measures that are widely used to diagnose autism spectrum disorders. We tested for association between the AVPR1a microsatellites and autism in 116 families (128 probands diagnosed with the ADI-R and ADOS-G using a family-based association test (UNPHASED)). Testing each individual microsatellite showed significant transmission disequilibrium in these families with the AVR intronic microsatellite (UNPHASED: LRS=11.46, global P-value=0.009, df=3). Haplotype analysis of three microsatellites also showed significant association (LRS=144.94, df=103, global P=0.004). Additionally, significant association is observed between these three microsatellite haplotypes and the VABS scores (P=0.009), with the ADI-R (P=0.009) and the ADOS-G (P=0.0000765) diagnoses of autistic disorder versus pervasive developmental disorder-not otherwise specified (PDD-NOS) that were available for 47 of these probands. This is the third consecutive report of an association between the AVPR1a gene and autism spectrum disorders and in the current study a third microsatellite is shown to be associated with autism spectrum disorders as well as haplotypes consisting of all three markers. Importantly, the association appears to be mainly mediated by the role of the AVPR1a gene in shaping socialization skills, similar to its role in lower vertebrates.Molecular Psychiatry (2006) 11, 488-494. doi:10.1038/sj.mp.4001812; published online 7 March 2006.


Assuntos
Transtorno Autístico/genética , Repetições de Microssatélites/genética , Receptores de Vasopressinas/genética , Ajustamento Social , Comportamento Social , Adolescente , Adulto , Transtorno Autístico/psicologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Desequilíbrio de Ligação , Masculino , Testes Neuropsicológicos , Linhagem , Valores de Referência , Índice de Gravidade de Doença
17.
Health Phys ; 90(1): 16-30, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16340604

RESUMO

The Interagency Steering Committee on Radiation Standards (ISCORS) has recently completed a study of the occurrence within the United States of radioactive materials in sewage sludge and sewage incineration ash. One component of that effort was an examination of the possible transport of radioactivity from sludge into the local environment and the subsequent exposure of humans. A stochastic environmental pathway model was applied separately to seven hypothetical, generic sludge-release scenarios, leading to the creation of seven tables of Dose-to-Source Ratios (DSR), which can be used in translating from specific activity in sludge into dose to an individual. These DSR values were then combined with the results of an ISCORS survey of sludge and ash at more than 300 publicly owned treatment works, to explore the potential for radiation exposure of sludge workers and members of the public. This paper provides a brief overview of the pathway modeling methodology employed in the exposure and dose assessments and discusses technical aspects of the results obtained.


Assuntos
Doses de Radiação , Poluentes Radioativos/análise , Eliminação de Resíduos , Esgotos , Monitoramento Ambiental , Modelos Teóricos , Medição de Risco
18.
J Environ Qual ; 34(1): 64-74, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15647535

RESUMO

The Nuclear Regulatory Commission (NRC) announced the availability of three new documents concerning radioactive materials in sewage sludge and ash from publicly owned treatment works (POTW). One of the documents is a report presenting the results of a volunteer survey of sewage sludge and ash samples provided by 313 POTWs. The second document is a dose modeling document, using multiple exposure pathway modeling focused on a series of generic scenarios, to track possible exposure of POTW workers and members of the general public to radioactivity from the sewage sludge or ash. The third document is a guidance report providing recommendations on the management of radioactivity in sewage sludge and ash for POTW owners and operators. This paper explains how radioactive materials enter POTWs, provides criteria for evaluating levels of radioactive material in sludge and ash, and gives a summary of the results of the survey and dose modeling efforts.


Assuntos
Modelos Teóricos , Poluentes Radioativos/análise , Eliminação de Resíduos , Esgotos/química , Coleta de Dados , Monitoramento Ambiental , Medição de Risco , Estados Unidos
19.
Talanta ; 57(1): 145-55, 2002 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-18968614

RESUMO

The constrained DET (diffusive equilibrium in thin films) probe filled with agarose gel was successfully used for measuring depth profiles of metals and anions in estuarine sediments at high-resolution (mm). The agarose gel was tested for equilibration times and recoveries. For manganese (10 mg l(-1)), the equilibration time between an aqueous solution and the agarose gel was reached after 60 min. In the presence of humic acids it was five times longer. As a consequence, for field applications a deployment time of 5-24 h was applied. The subsequent elution of manganese into nitric acid was completed in less than 10 min even without mixing. For agarose gel in contact with solutions of 10 mg l(-1) ions (cadmium, copper and manganese, bromide, chloride, nitrate and sulfate), recoveries obtained were close to 100%. DET probes were applied in test laboratory sediment and in real sediment in the Authie (France) estuary. Depth profiles for 19 elements (Ag, As, Ba, Bi, Cd, Co, Cr, Cu, Fe, Mn, Mo, Ni, Pb, Sb, Se, Sr, Tl, V, and Zn) and four anions (bromide, chloride, nitrate and sulfate) were established for the test laboratory sediment. In the real sediment, the pore water concentrations of iron and manganese using gel probes were comparable with those obtained by a conventional method (box core-anoxic slicing followed by centrifugation).

20.
Nefrologia ; 21(2): 204-8, 2001.
Artigo em Espanhol | MEDLINE | ID: mdl-11464655

RESUMO

We describe four pregnant patients with distal renal tubular acidosis (type I) (DRTA) whose initial presentation was rhabdomyolysis (RML) secondary to severe hypokalemia. We draw attention to the unusual presentation of DRTA during pregnancy, the low frequency of DRTA in adult patients and RML as initial manifestation. In one case the DRTA was secondary to Sjögren Syndrome and the etiology was unknown in the rest of the cases. We discuss the potential pathogenic mechanisms to explain hypokalemic RML and the various causes of DRTA in adult patients.


Assuntos
Acidose Tubular Renal/diagnóstico , Túbulos Renais Distais/fisiopatologia , Complicações na Gravidez/diagnóstico , Rabdomiólise/etiologia , Acidose Tubular Renal/sangue , Acidose Tubular Renal/classificação , Acidose Tubular Renal/complicações , Adulto , Doenças Autoimunes/complicações , Bacteriemia/complicações , Bacteriemia/microbiologia , Feminino , Humanos , Hipopotassemia/etiologia , Hipotireoidismo/complicações , Recém-Nascido , Transporte de Íons , Túbulos Renais Distais/metabolismo , Infecções por Klebsiella/complicações , Klebsiella pneumoniae/isolamento & purificação , Gravidez , Resultado da Gravidez , Quadriplegia/etiologia , Rabdomiólise/sangue , Síndrome de Sjogren/complicações , Vômito/etiologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA