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1.
Artigo em Inglês | MEDLINE | ID: mdl-32740538

RESUMO

OBJECTIVES: Crohn disease (CD) can affect patient's quality of life (QOL) with physical, social, and psychological impacts. This study aimed to investigate the QOL of children with CD and its relationship with patient and disease characteristics. METHODS: Children ages from 10 to 17 years with diagnosed CD for more than 6 months were eligible to this cross-sectional study conducted in 35 French pediatric centers. QOL was assessed by the IMPACT-III questionnaire. Patient and disease characteristics were collected. RESULTS: A total of 218 children (42% of girls) were included at a median age of 14 years (interquartile range [IQR]: 13--16). Median duration of CD was 3.2 years (IQR: 1.7-5.1) and 63% of children were in clinical remission assessed by wPCDAI. Total IMPACT-III score was 62.8 (±11.0). The lowest score was in "emotional functioning" subdomain (mean: 42.8 ±â€Š11.2). Clinical remission was the main independent factor associated with QOL of children with CD (5.74 points higher compared with those "with active disease", 95% confidence interval [CI] 2.77--8.70, P < 0.001). Age of patient at the evaluation was found negatively correlated with QOL (-0.76 per year, 95% CI: -1.47 to -0.06, P = 0.009). Presence of psychological disorders was associated with a lower QOL (-9.6 points lower to those without, 95% CI: -13.34 to -5.86, P < 0.0001). Total IMPACT-III and its subdomains scores were not related to sex, disease duration, or treatments. CONCLUSIONS: These results not only confirm that clinical remission is a major issue for the QOL of patients, but also highlights the importance of psychological care.

2.
J Thromb Haemost ; 17(8): 1329-1334, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31108013

RESUMO

INTRODUCTION: The recently proposed YEARS algorithm was shown to safely exclude pulmonary embolism (PE) and reduce the use of computed tomography pulmonary angiography (CTPA) among pregnant women with suspected PE. Our aim was to externally validate this finding. METHODS: We performed a post hoc analysis of a prospective management outcome study for PE diagnosis in pregnant women. PE was diagnosed with an algorithm that combined the revised Geneva score, D-dimer testing, bilateral lower-limb compression ultrasonography, and CTPA. All women had a 3-month follow-up. All of the items necessary to use the YEARS algorithm were prospectively collected at the time of the study. RESULTS: Of the 395 women included in the original study, 371 were available for the present analysis. The PE prevalence was 6.5%. Ninety-one women had no YEARS items, and 280 had one or more items. When the YEARS items were combined with D-dimer levels (<1000 ng/mL in women with no items, and <500 ng/mL in women with one or more items), 77 women (21%) met the criteria for PE exclusion and would not have undergone CTPA as per the YEARS algorithm. None of these 77 women had PE diagnosed during the initial work-up or 3-month follow-up. Therefore, the failure rate of the YEARS algorithm in our pregnant women population was 0/77 (95% confidence interval 0.0-3.9). CONCLUSION: In our study, application of the YEARS algorithm would have resulted in safe exclusion of PE in one of five pregnant women without the need for radiation exposure, further supporting the use of the algorithm in this population.


Assuntos
Algoritmos , Técnicas de Apoio para a Decisão , Complicações Cardiovasculares na Gravidez/diagnóstico , Tromboembolia Venosa/diagnóstico , Adulto , Biomarcadores/sangue , Angiografia por Tomografia Computadorizada , Diagnóstico Diferencial , Feminino , Produtos de Degradação da Fibrina e do Fibrinogênio/análise , França , Humanos , Valor Preditivo dos Testes , Gravidez , Complicações Cardiovasculares na Gravidez/sangue , Complicações Cardiovasculares na Gravidez/epidemiologia , Prevalência , Reprodutibilidade dos Testes , Suíça , Ultrassonografia , Tromboembolia Venosa/sangue , Tromboembolia Venosa/epidemiologia
4.
Endoscopy ; 51(1): 10-17, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30184608

RESUMO

BACKGROUND: Esophagogastroduodenoscopy (EGD) is the standard method for diagnosis of esophageal and gastric varices in children. In this prospective study we evaluated the use of PillCam esophageal capsule endoscopy (ECE) in pediatric patients. METHODS: Patients aged 7 to 18 years presenting with portal hypertension and/or cirrhosis underwent ECE (PillCam ESO 2, Given Imaging Ltd.) followed by EGD. RESULTS: 102 patients were screened, 81 (52 boys; mean age 13.96 ±â€Š0.25 years) were included and 21 were excluded (16 for "candy test" failure). Esophageal varices were identified by EGD in 62 patients (77 %) and by ECE in 57 patients (70 %) using the de Franchis classification (DFC). The sensitivity of ECE for esophageal varices was 92 % and the specificity was 100 % using DFC. Based upon 57/81 patients with small, medium, and large varices on both ECE and EGD, using DFC, the sensitivity, specificity, positive (PPV) and negative predictive value (NPV) were 55 %, 92 %, 89 %, and 63 %, respectively, giving a total overall accuracy of 72 %. To improve sensitivity and specificity in classification of esophageal varices, we propose using a modified score. This score detected esophageal varices with 100 % sensitivity, 93 % specificity, 94 % PPV, and 100 % NPV, giving a total overall accuracy of 97 %. All patients preferred ECE over EGD. No capsule retention was recorded. CONCLUSIONS: ECE is a well-tolerated and safe procedure in children. Using the modified score, the sensitivity of ECE is currently sufficient to detect esophageal varices and replace EGD in infants with suspicion of esophageal varices or when EGD is refused.


Assuntos
Endoscopia por Cápsula/métodos , Varizes Esofágicas e Gástricas/diagnóstico , Hipertensão Portal/complicações , Cirrose Hepática/complicações , Adolescente , Criança , Endoscopia do Sistema Digestório/métodos , Varizes Esofágicas e Gástricas/etiologia , Feminino , França , Humanos , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
5.
Ann Intern Med ; 169(11): 766-773, 2018 12 04.
Artigo em Inglês | MEDLINE | ID: mdl-30357273

RESUMO

Background: Data on the optimal diagnostic management of pregnant women with suspected pulmonary embolism (PE) are limited, and guidelines provide inconsistent recommendations on use of diagnostic tests. Objective: To prospectively validate a diagnostic strategy in pregnant women with suspected PE. Design: Multicenter, multinational, prospective diagnostic management outcome study involving pretest clinical probability assessment, high-sensitivity D-dimer testing, bilateral lower limb compression ultrasonography (CUS), and computed tomography pulmonary angiography (CTPA). (ClinicalTrials.gov: NCT00740454). Setting: 11 centers in France and Switzerland between August 2008 and July 2016. Patients: Pregnant women with clinically suspected PE in emergency departments. Intervention: Pulmonary embolism was excluded in patients with a low or intermediate pretest clinical probability and a negative D-dimer result. All others underwent lower limb CUS and, if results were negative, CTPA. A ventilation-perfusion (V/Q) scan was done if CTPA results were inconclusive. Pulmonary embolism was excluded if results of the diagnostic work-up were negative, and untreated pregnant women had clinical follow-up at 3 months. Measurements: The primary outcome was the rate of adjudicated venous thromboembolic events during the 3-month follow-up. Results: 441 women were assessed for eligibility, and 395 were included in the study. Among these, PE was diagnosed in 28 (7.1%) (proximal deep venous thrombosis found on ultrasonography [n = 7], positive CTPA result [n = 19], and high-probability V/Q scan [n = 2]) and excluded in 367 (clinical probability and negative D-dimer result [n = 46], negative CTPA result [n = 290], normal or low-probability V/Q scan [n = 17], and other reason [n = 14]). Twenty-two women received extended anticoagulation during follow-up, mainly for previous venous thromboembolic disease. The rate of symptomatic venous thromboembolic events was 0.0% (95% CI, 0.0% to 1.0%) among untreated women after exclusion of PE on the basis of negative results on the diagnostic work-up. Limitation: There were several protocol deviations, reflecting the difficulty of performing studies in pregnant women with suspected PE. Conclusion: A diagnostic strategy based on assessment of clinical probability, D-dimer measurement, CUS, and CTPA can safely rule out PE in pregnant women. Primary Funding Source: Swiss National Foundation for Scientific Research, Groupe d'Etude de la Thrombose de Bretagne Occidentale, and International Society on Thrombosis and Haemostasis.


Assuntos
Complicações Cardiovasculares na Gravidez/diagnóstico , Embolia Pulmonar/diagnóstico , Adulto , Anticoagulantes/uso terapêutico , Angiografia por Tomografia Computadorizada , Feminino , Produtos de Degradação da Fibrina e do Fibrinogênio/análise , Humanos , Extremidade Inferior/irrigação sanguínea , Extremidade Inferior/diagnóstico por imagem , Gravidez , Complicações Cardiovasculares na Gravidez/diagnóstico por imagem , Complicações Cardiovasculares na Gravidez/prevenção & controle , Estudos Prospectivos , Embolia Pulmonar/diagnóstico por imagem , Embolia Pulmonar/prevenção & controle , Ultrassonografia , Trombose Venosa/diagnóstico por imagem , Trombose Venosa/prevenção & controle
6.
Lancet Haematol ; 4(12): e615-e621, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29150390

RESUMO

BACKGROUND: The ability of the pulmonary embolism rule-out criteria (PERC) to exclude pulmonary embolism without further testing remains debated outside the USA, especially in the population with suspected pulmonary embolism who have a high prevalence of the condition. Our main objective was to prospectively assess the predictive value of negative PERC to rule out pulmonary embolism among European patients with low implicit clinical probability. METHODS: We did a multicentre, prospective, observational study in 12 emergency departments in France and Belgium. We included consecutive patients aged 18 years or older with suspected pulmonary embolism. Patients were excluded if they had already been hospitalised for more than 2 days, had curative anticoagulant therapy in progress for more than 48 h, or had a diagnosis of thromboembolic disease documented before admission to emergency department. Physicians completed a standardised case report form comprising implicit clinical probability assessment (low, moderate, or high) and a list of risk factors including criteria of the PERC rule. They were asked to follow international recommendations for diagnostic strategy, masked to PERC assessment. The primary endpoint was the proportion of patients with low implicit clinical probability and negative PERC who had venous thromboembolic events, diagnosed during initial diagnostic work-up or during 3-month follow-up, as externally adjudicated by an independent committee masked to the PERC and clinical probability assessment. The upper limit of the 95% CI around the 3-month thromboembolic risk was set at 3%. We did all analyses by intention to treat, including all patients with complete follow-up. This trial is registered with ClinicalTrials.gov, number NCT02360540. FINDINGS: Between May 1, 2015, and April 30, 2016, 1773 consecutive patients with suspected pulmonary embolism were prospectively assessed for inclusion, of whom 1757 were included. 1052 (60%) patients were classed as having low clinical probability, 49 (4·7%, 95% CI 3·5-6·1) of whom had a venous thromboembolic event. In patients with a low implicit clinical probability, 337 (32%) patients had negative PERC, of whom four (1·2%; 95% CI 0·4-2·9) went on to have a pulmonary embolism. INTERPRETATION: In European patients with low implicit clinical probability, PERC can exclude pulmonary embolism with a low percentage of false-negative results. The results of our prospective, observational study allow and justify an implementation study of the PERC rule in Europe. FUNDING: French Ministry of Health.


Assuntos
Embolia Pulmonar/diagnóstico , Adulto , Idoso , Angiografia , Anticoagulantes/uso terapêutico , Serviço Hospitalar de Emergência , Grupo com Ancestrais do Continente Europeu , Reações Falso-Negativas , Produtos de Degradação da Fibrina e do Fibrinogênio/análise , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Embolia Pulmonar/tratamento farmacológico , Fatores de Risco , Resultado do Tratamento , Ultrassonografia
7.
J Telemed Telecare ; 23(1): 174-180, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26656722

RESUMO

Background Previous observational studies have shown that telemedicine is feasible and safe to deliver intravenous (IV) recombinant tissue plasminogen activator (rt-PA). However, implementation of telemedicine may be challenging. To illustrate this fact, we report a study showing that telemedicine failed to improve clinical outcome and analyze the reasons for this shortcoming. Methods We established a tele-stroke network of 10 emergency rooms (ERs) of community hospitals connected to a stroke center to perform a randomized, open-label clinical trial with blinded outcome evaluation. Eligible patients were randomly assigned to either a usual care arm (i.e. immediate transfer to the stroke center and administration of IV rt-PA if indication was confirmed upon stroke arrival) or tele-thrombolysis arm (i.e. immediate administration of IV rt-PA in ER and transfer to the stroke center). The primary efficacy outcome was an excellent outcome (modified Rankin scale (mRS) 0-1 at 90 days). Secondary endpoints included favorable outcome (90-day mRS 0-2) and early neurological improvement (NIHSS score 0-1 at 24 hours or a decrease of ≥ 4 points within 24 hours). Safety outcomes included symptomatic intracerebral hemorrhage (ICH) per ECASS II definition, any ICH and all-cause mortality. Results During an accrual time of 48 months, because of a slow enrollment rate, only 49 of 270 patients initially planned for inclusion were randomized into usual care ( n = 23) and tele-thrombolysis ( n = 26). Despite random assignment, patients allocated to tele-thrombolysis were older and had more severe stroke than patients allocated to usual care. The median duration of video-conference was 23 minutes in the usual care arm and 73 minutes in the tele-thrombolysis arm. Eighty-four percent of patients in the tele-thrombolysis arm were treated by IV rt-PA in comparison to 18% in the usual care arm. In univariate analysis but not after adjustment for age and baseline NIHSS, patients allocated in the usual care arm had a higher rate of excellent or favorable outcome. There were no differences in safety outcomes, with only one symptomatic ICH occurring in the tele-thrombolysis arm. Conclusions Stroke patients included in the telemedicine arm of the TRUST-tPA trial increased their rt-PA eligibility five-fold. However, the efficacy and safety remains to be determined (ClinicalTrials.org, NCT00279149).


Assuntos
Fibrinolíticos/uso terapêutico , Acidente Vascular Cerebral/tratamento farmacológico , Telemedicina/métodos , Ativador de Plasminogênio Tecidual/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Comportamento Cooperativo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/diagnóstico , Avaliação de Resultados em Cuidados de Saúde , Acidente Vascular Cerebral/diagnóstico , Telemedicina/organização & administração , Adulto Jovem
8.
BMC Cancer ; 15: 497, 2015 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-26141748

RESUMO

BACKGROUND: BRAF mutations are present in 40% of human skin melanomas. Mutated tumors with an increased percentage of BRAF mutant alleles (BRAF-M%) may have a better response to RAF/MEK inhibitors. We evaluated the BRAF-M% in melanomas, and the genetic causes of its variation. METHODS: BRAF-M% was quantified by pyrosequencing, real-time PCR (rtPCR) and/or picoliter-droplet PCR (dPCR). BRAF mutant expression was detected by immunohistochemistry. Chromosomal alterations were analyzed with fluorescence in situ hybridization (FISH), and single nucleotide polymorphism (SNP) arrays. RESULTS: BRAF-M% quantification obtained with pyrosequencing was highly correlated (R = 0.94) with rtPCR, and with dPCR. BRAF-M% quantified from DNA and RNA were also highly correlated (R = 0.98). Among 368 samples with >80% tumor cells, 38.6% had a BRAF (V600E) mutation. Only 66.2% cases were heterozygous (BRAF-M% 30 to 60%). Increased BRAF-M% (>60%) was observed in 19% of cases. FISH showed a polysomy of chromosome 7 in 13.6%, 35.3% and 54.5% of BRAF wild-type, heterozygous and non-heterozygous BRAF-mutated samples, respectively (P < 0.005). Amplification (5.6%) and loss (3.2%) of BRAF locus were rare. By contrast, chromosome 7 was disomic in 27/27 BRAF-mutated nevi. CONCLUSIONS: BRAF-M% is heterogeneous and frequently increased in BRAF-mutant melanomas. Aneuploidy of chromosome 7 is more frequent in BRAF mutant melanomas, specifically in those with high BRAF-M%.


Assuntos
Melanoma/genética , Proteínas Proto-Oncogênicas B-raf/genética , Aneuploidia , Cromossomos Humanos Par 7/genética , Heterozigoto , Humanos , Hibridização in Situ Fluorescente , Melanoma/epidemiologia , Polimorfismo de Nucleotídeo Único/genética , Reação em Cadeia da Polimerase em Tempo Real
9.
Blood ; 124(19): 3016-9, 2014 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-25150293

RESUMO

Erdheim-Chester disease (ECD) is a rare histiocytic disorder that is challenging to diagnose and treat. We performed molecular analysis of BRAF in the largest cohort of ECD patients studied to date followed by N/KRAS, PIK3CA, and AKT1 mutational analysis in BRAF wild-type patients. Forty-six of 80 (57.5%) of patients were BRAFV600E-mutant. NRAS mutations were detected in 3 of 17 ECD BRAFV600E wild-type patients. PIK3CA mutations (p.E542K, p.E545K, p.A1046T, and p.H1047R) were detected in 7 of 55 patients, 4 of whom also had BRAF mutations. Mutant NRAS was present in peripheral blood CD14(+) cells, but not lymphoid cells, from an NRASQ61R mutant patient. Our results underscore the central role of RAS-RAF-MEK-ERK activation in ECD and identify an important role of activation of RAS-PI3K-AKT signaling in ECD. These results provide a rationale for targeting mutant RAS or PI3K/AKT/mTOR signaling in the subset of ECD patients with NRAS or PIK3CA mutations.


Assuntos
Doença de Erdheim-Chester/genética , GTP Fosfo-Hidrolases/genética , Proteínas de Membrana/genética , Fosfatidilinositol 3-Quinases/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Classe I de Fosfatidilinositol 3-Quinases , Doença de Erdheim-Chester/metabolismo , Feminino , GTP Fosfo-Hidrolases/metabolismo , Histiócitos/metabolismo , Humanos , Sistema de Sinalização das MAP Quinases/genética , Masculino , Proteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Fosfatidilinositol 3-Quinases/metabolismo , Mutação Puntual , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas/metabolismo , Proteínas Proto-Oncogênicas c-akt/genética , Proteínas Proto-Oncogênicas c-akt/metabolismo , Proteínas Proto-Oncogênicas p21(ras) , Recidiva , Proteínas ras/genética , Proteínas ras/metabolismo
10.
JAMA ; 311(11): 1117-24, 2014 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-24643601

RESUMO

IMPORTANCE: D-dimer measurement is an important step in the diagnostic strategy of clinically suspected acute pulmonary embolism (PE), but its clinical usefulness is limited in elderly patients. OBJECTIVE: To prospectively validate whether an age-adjusted D-dimer cutoff, defined as age × 10 in patients 50 years or older, is associated with an increased diagnostic yield of D-dimer in elderly patients with suspected PE. DESIGN, SETTINGS, AND PATIENTS: A multicenter, multinational, prospective management outcome study in 19 centers in Belgium, France, the Netherlands, and Switzerland between January 1, 2010, and February 28, 2013. INTERVENTIONS: All consecutive outpatients who presented to the emergency department with clinically suspected PE were assessed by a sequential diagnostic strategy based on the clinical probability assessed using either the simplified, revised Geneva score or the 2-level Wells score for PE; highly sensitive D-dimer measurement; and computed tomography pulmonary angiography (CTPA). Patients with a D-dimer value between the conventional cutoff of 500 µg/L and their age-adjusted cutoff did not undergo CTPA and were left untreated and formally followed-up for a 3-month period. MAIN OUTCOMES AND MEASURES: The primary outcome was the failure rate of the diagnostic strategy, defined as adjudicated thromboembolic events during the 3-month follow-up period among patients not treated with anticoagulants on the basis of a negative age-adjusted D-dimer cutoff result. RESULTS: Of the 3346 patients with suspected PE included, the prevalence of PE was 19%. Among the 2898 patients with a nonhigh or an unlikely clinical probability, 817 patients (28.2%) had a D-dimer level lower than 500 µg/L (95% CI, 26.6%-29.9%) and 337 patients (11.6%) had a D-dimer between 500 µg/L and their age-adjusted cutoff (95% CI, 10.5%-12.9%). The 3-month failure rate in patients with a D-dimer level higher than 500 µg/L but below the age-adjusted cutoff was 1 of 331 patients (0.3% [95% CI, 0.1%-1.7%]). Among the 766 patients 75 years or older, of whom 673 had a nonhigh clinical probability, using the age-adjusted cutoff instead of the 500 µg/L cutoff increased the proportion of patients in whom PE could be excluded on the basis of D-dimer from 43 of 673 patients (6.4% [95% CI, 4.8%-8.5%) to 200 of 673 patients (29.7% [95% CI, 26.4%-33.3%), without any additional false-negative findings. CONCLUSIONS AND RELEVANCE: Compared with a fixed D-dimer cutoff of 500 µg/L, the combination of pretest clinical probability assessment with age-adjusted D-dimer cutoff was associated with a larger number of patients in whom PE could be considered ruled out with a low likelihood of subsequent clinical venous thromboembolism. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT01134068.


Assuntos
Produtos de Degradação da Fibrina e do Fibrinogênio/análise , Embolia Pulmonar/diagnóstico , Tromboembolia Venosa/epidemiologia , Doença Aguda , Fatores Etários , Idoso , Angiografia , Erros de Diagnóstico , Serviço Hospitalar de Emergência , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , Pacientes Ambulatoriais , Prevalência , Probabilidade , Estudos Prospectivos , Embolia Pulmonar/sangue , Embolia Pulmonar/epidemiologia , Valores de Referência , Risco , Sensibilidade e Especificidade , Tromboembolia Venosa/sangue
11.
Dig Liver Dis ; 44(10): 839-43, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22795616

RESUMO

BACKGROUND: Capsule endoscopy is recommended for children with Peutz-Jeghers syndrome as young as 8 years of age. Aim of our study was to evaluate the contribution of capsule endoscopy in managing risk of further obstructive complications. METHODS: A retrospective analysis of 27 children who received at least 1 capsule endoscopy was conducted. Peutz-Jeghers syndrome was diagnosed based on the presence of an STK11 gene mutation or on the association of a hamartoma with 2 of 3 criteria (family history, mucocutaneous pigmentation, small bowel polyposis). RESULTS: Thirty-seven capsule endoscopies were performed in 27 patients. The median age at first endoscopy was 11.4 years (range, 5.4-20.9). Jejunal polyps were found in 72% and ileal polyps in 55% of capsules. The original recommendations were followed 20/30 times. Three gastroscopies, 4 colonoscopies, 7 double balloon enteroscopies and 1 intra-operative enteroscopy were performed after the capsules. These procedures revealed jejunal polyps in 9/9 cases (8/9 resected) and ileal polyps in 3/5 (all resected). One intussusception occurred 8.4 months after the capsule endoscopy and required surgical resection. CONCLUSION: Capsule endoscopy is easily feasible in Peutz Jeghers syndrome, but the practice of systematic and repeated procedures needs to be validated prospectively.


Assuntos
Endoscopia por Cápsula , Pólipos Intestinais/diagnóstico , Intestino Delgado/patologia , Síndrome de Peutz-Jeghers/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Pólipos Intestinais/complicações , Intussuscepção/etiologia , Masculino , Estudos Retrospectivos , Adulto Jovem
12.
Ther Drug Monit ; 32(4): 433-7, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20479703

RESUMO

Azathioprine is commonly used in the treatment of autoimmune hepatitis (AIH). Few data are available on drug monitoring of azathioprine metabolites in patients with AIH, especially in pediatric patients. The purpose of this study was to investigate intracellular thiopurine metabolites in children with AIH and to assess the relevance of drug monitoring compared with the efficacy and toxicity. Data from 28 patients with AIH treated by azathioprine for at least 3 months were recorded. 6-Thioguanine nucleotides (6-TGN) and 6-methyl mercaptopurine nucleotides (6-MeMPN) concentrations and TPMT activity were determined by high-performance liquid chromatography. Blood cell counts and liver function tests were also collected and the clinical outcome was documented. A wide interindividual variability in 6-TGN and 6-MeMPN concentrations was observed with values ranging from 51 to 1966 pmol/8 x 10(8) red blood cells (RBCs) for 6-TGN and from 42 to 8189 pmol/8 x 10(8) RBCs for 6-MeMPN. A total of 61.4% of the patients achieved remission and only 32.6% of these children had 6-TGN values within the target range proposed for inflammatory bowel disease (250-450 pmol/8 x 10(8) red blood cells). No difference in metabolite concentrations was observed between children in remission and those with active disease. Azathioprine dosage was significantly related to 6-TGN and 6-MeMPN levels (r = 0.308, P < 0.001 and r = 0.405, P < 0.001, respectively). A significant negative correlation was observed between 6-TGN concentrations and erythrocyte and lymphocyte counts, whereas 6-MeMPN was not related to blood cell counts. Although leukocyte counts were not related to 6-TGN concentrations, patients with leucopenia exhibited higher 6-TGN values than those without leucopenia (median values 438 pmol/8 x 10(8) RBCs versus 405 pmol/8 x 10(8) RBCs, respectively). Thiopurine metabolite monitoring appears useful in identifying the myelotoxicity and the hepatotoxicity as a result of azathioprine with disease recurrence and to assess adherence to therapy. A further larger study will be required to confirm the optimal recommended target for thiopurine metabolites to achieve remission in patients with AIH.


Assuntos
Azatioprina/farmacocinética , Azatioprina/uso terapêutico , Hepatite Autoimune/sangue , Hepatite Autoimune/tratamento farmacológico , Imunossupressores/farmacocinética , Imunossupressores/uso terapêutico , Adolescente , Corticosteroides/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Azatioprina/efeitos adversos , Biotransformação , Contagem de Células Sanguíneas , Criança , Pré-Escolar , Cromatografia Líquida de Alta Pressão , Monitoramento de Medicamentos , Quimioterapia Combinada , Feminino , Humanos , Imunossupressores/efeitos adversos , Testes de Função Hepática , Masculino , Mercaptopurina/análogos & derivados , Mercaptopurina/sangue , Tioguanina/sangue
13.
J Pediatr Gastroenterol Nutr ; 50(5): 516-20, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-19934772

RESUMO

BACKGROUND: Esophageal stricture is one of the most severe complications in eosinophilic esophagitis (EoE). Clinical practice is based on limited data and some treatments are still considered controversial. We report on our experience in the treatment of severe dysphagia and esophageal strictures in EoE, especially using balloon dilation, showing the clinical practice in our pediatric population. PATIENTS AND METHODS: This was a single-center retrospective study between December 2002 to November 2007, identifying all of the pediatric patients with severe dysphagia in the context of EoE. Demographic data and the results of various treatment regimens were reviewed. RESULTS: Severe dysphagia was identified in 13 cases (77% male, mean age 12.8 +/- 4.4 years). Endoscopic findings were mucosal edema (62%), long segment strictures, esophagitis, and off-white appearance in 31%. Histologically, >20 eosinophils per high-power field were present in all of the patients. Medical treatment consisted of proton pump inhibitor PPI (77%), montelukast (31%), local corticosteroids (54%), systemic corticosteroids (8%), elemental diet (15%), and food elimination diet (61%). A combined therapeutic approach was performed in all of the cases, due to clinical relapse or no response to monotherapy. Good response was obtained clinically in 70%, endoscopically in 62%, and histologically in 75%. Relapses were observed in 46% of the cases. Balloon dilation was necessary in 31% of the cases (mean dilation sessions 3.3 +/- 0.95), being effective in 100% of patients, without complications. CONCLUSIONS: In our pediatric series, combined medical (corticosteroids, elemental diet, and food elimination diet) and endoscopic approach (repeated balloon dilation) were effective and safe in patients with severe EoE and esophageal stricture.


Assuntos
Cateterismo , Transtornos de Deglutição/terapia , Eosinofilia/terapia , Eosinófilos/metabolismo , Estenose Esofágica/terapia , Esofagite/terapia , Adolescente , Criança , Terapia Combinada , Transtornos de Deglutição/etiologia , Edema/epidemiologia , Edema/etiologia , Edema/patologia , Eosinofilia/complicações , Estenose Esofágica/etiologia , Esofagite/complicações , Esofagite/patologia , Esofagoscopia , Feminino , Humanos , Masculino , Membrana Mucosa/patologia , Recidiva , Estudos Retrospectivos , Índice de Gravidade de Doença
14.
Gastrointest Endosc ; 69(6): 1034-8, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19152910

RESUMO

BACKGROUND: In children, endoscopic sclerotherapy and variceal ligation (EVL) are the most used techniques for the treatment of gastroesophageal variceal bleeding (VB). However, these techniques achieve poor results in cases of gastric variceal bleeding, and EVL is not applicable in young infants. OBJECTIVE: Our purpose was to evaluate the feasibility, efficacy, and safety of cyanoacrylate glue injection for the treatment of gastroesophageal varices in young infants. DESIGN: Single-center prospective study. PATIENTS: From 2001 to 2005, 8 young infants (

Assuntos
Cianoacrilatos/uso terapêutico , Varizes Esofágicas e Gástricas/terapia , Esofagoscopia/métodos , Hemorragia Gastrointestinal/terapia , Escleroterapia/métodos , Atresia Biliar/complicações , Quimioterapia Combinada , Embucrilato/uso terapêutico , Esofagoscópios , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Hipertensão Portal/complicações , Hipertensão Portal/congênito , Lactente , Óleo Iodado , Masculino , Projetos Piloto , Veia Porta , Estudos Prospectivos , Recidiva , Retratamento , Trombose/complicações , Adesivos Teciduais/uso terapêutico , Deficiência de alfa 1-Antitripsina/complicações
16.
Virchows Arch ; 451(1): 57-64, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-17554556

RESUMO

We report here four cases of pediatric patients in whom the diagnosis of cystic fibrosis was made only after the histological examination of a liver specimen obtained by biopsy (three cases) or at autopsy (one case). There were two boys and two girls, aged 13 months to 7.5 years. None had a personal or familial history suggestive of cystic fibrosis. One patient, presenting with myocardial lesion and hepatomegaly, died of heart failure; at autopsy, the liver showed a typical aspect of focal biliary cirrhosis. In the three other cases, liver disease was the only manifestation of cystic fibrosis at the time of diagnosis. Liver biopsy examination showed focal biliary cirrhosis in one case and massive steatosis in two. In all four cases, the diagnosis was confirmed by the existence of known pathogenic mutations in the CFTR gene. The evolution was variable; one patient had progressive liver disease with severe portal hypertension after 7 years; another one had lung complications after 1 year. In conclusion, our experience recalls that the diagnosis of cystic fibrosis must be considered in children presenting with unexplained liver disease; its confirmation by molecular techniques makes it possible to set up an appropriate follow-up.


Assuntos
Fibrose Cística/diagnóstico , Fígado/patologia , Biópsia , Criança , Pré-Escolar , Fibrose Cística/patologia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Feminino , Humanos , Lactente , Masculino
17.
Gastroenterol Clin Biol ; 31(12): 1155-6, 2007 Dec.
Artigo em Francês | MEDLINE | ID: mdl-18176379

RESUMO

A teenager was admitted with an iron-deficiency anemia. The gastroscopy found an atrophic body gastritis, which revealed a pernicious anemia. This diagnosis is rare in paediatric patients, the frequency of pernicious anemia increasing with age. Iron-deficiency anemia is mainly described in young people.


Assuntos
Anemia Ferropriva/etiologia , Anemia Perniciosa/complicações , Gastrite Atrófica/complicações , Adolescente , Fundo Gástrico/patologia , Humanos , Fator Intrínseco/análise , Masculino , Células Parietais Gástricas/patologia , Vitamina B 12/análise , Complexo Vitamínico B/análise
18.
Eur J Emerg Med ; 13(5): 264-9, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16969230

RESUMO

BACKGROUND: The purpose of this study was to assess low molecular weight heparin auto-injection skills of self-supporting patients, taught by a nurse through a rapid demonstration in an emergency department. METHODS: The study was a prospective, multicentre study, carried out in emergency departments. It included all ambulatory attending patients over 18 years of age, who were given a lower limb cast in an emergency ward and provided with limited orthopaedic treatment. Eligible patients who accepted self-injection training were given a quick demonstration by the nurse in the emergency ward. A questionnaire about the perception of the patient was completed at the beginning of the treatment and at the end of the treatment. A surveillance chart for recording injections and side effects was also given to the patient, and platelet counts were performed twice weekly. FINDINGS: Two hundred and fourteen patients have been assessed. Forty-four patients (20.5%) were judged inappropriate for training (n=19) or refused it (n=25). Primary perception of the self-injection method showed absence of fear of injections among patients in 43.7% of cases. Training was successful in 88% of cases. Twenty-one patients out of 170 (12%) gave up after completing the training. Questionnaires given at the end of the treatment found a generally favourable opinion on self-injections among 73.26% of patients (n=86). Compliance was good - 95.5% of patients completed all their injections. Platelet counts were considered appropriate only in 52.5% of cases. INTERPRETATION: It seems possible to extend the practice of self-injection to other types of injections prescribed after discharge from the emergency department, such as preventive low molecular weight heparin for surgical or medical purposes and curative ambulatory low molecular weight heparin treatment for deep vein thrombosis.


Assuntos
Anticoagulantes/administração & dosagem , Heparina de Baixo Peso Molecular/administração & dosagem , Autoadministração , Adulto , Atitude Frente a Saúde , Redução de Custos , Serviço Hospitalar de Emergência/economia , Estudos de Viabilidade , Feminino , Humanos , Injeções Subcutâneas/economia , Injeções Subcutâneas/psicologia , Masculino , Estudos Prospectivos , Autoadministração/economia , Autoadministração/psicologia , Inquéritos e Questionários
20.
Ann Intern Med ; 144(3): 157-64, 2006 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-16461959

RESUMO

BACKGROUND: International guidelines include several strategies for diagnosing pulmonary embolism with confidence, but little is known about how these guidelines are implemented in routine practice. OBJECTIVE: To evaluate the appropriateness of diagnostic management of suspected pulmonary embolism and the relationship between diagnostic criteria and outcome. DESIGN: Prospective cohort study with a 3-month follow-up. SETTING: 116 emergency departments in France and 1 in Belgium. PATIENTS: 1529 consecutive outpatients with suspected pulmonary embolism. MEASUREMENTS: Appropriateness of diagnostic criteria according to international guidelines; incidence of thromboembolic events during follow-up. RESULTS: Diagnostic management was inappropriate in 662 (43%) patients: 36 of 429 (8%) patients with confirmed pulmonary embolism and 626 of 1100 (57%) patients in whom pulmonary embolism was ruled out. Independent risk factors for inappropriate management were age older than 75 years (adjusted odds ratio, 2.27 [95% CI, 1.48 to 3.47]), known heart failure (odds ratio, 1.53 [CI, 1.11 to 2.12]), chronic lung disease (odds ratio, 1.39 [CI, 1.00 to 1.94]), current or recent pregnancy (odds ratio, 5.92 [CI, 1.81 to 19.30]), currently receiving anticoagulant treatment (odds ratio, 4.57 [CI, 2.51 to 8.31]), and the lack of a written diagnostic algorithm and clinical probability scoring in the emergency department (odds ratio, 2.54 [CI, 1.51 to 4.28]). Among patients who did not receive anticoagulant treatment, 44 had a thromboembolic event during follow-up: 5 of 418 (1.2%) patients who received appropriate management and 39 of 506 (7.7%) patients who received inappropriate management (absolute risk difference, 6.5 percentage points [CI, 4.0 to 9.1 percentage points]; P < 0.001). Inappropriateness was independently associated with thromboembolism occurrence (adjusted odds ratio, 4.29 [CI, 1.45 to 12.70]). LIMITATIONS: This was an observational study without evaluation of the risk for overdiagnosis. CONCLUSIONS: Diagnostic management that does not adhere to guidelines is frequent and harmful in patients with suspected pulmonary embolism. Several risk factors for inappropriateness constitute useful findings for subsequent interventions.


Assuntos
Serviço Hospitalar de Emergência/normas , Fidelidade a Diretrizes , Avaliação de Resultados em Cuidados de Saúde , Guias de Prática Clínica como Assunto , Embolia Pulmonar/diagnóstico , Bélgica , Feminino , Seguimentos , França , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Recidiva , Fatores de Risco
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