RESUMO
BACKGROUND: The diagnosis of pulmonary embolism (PE) in pregnant women represents an ongoing challenge. As in the general population, the first step in pregnant women with suspected PE consists of assessing clinical pre-test probability (PTP). However, no dedicated clinical decision rule has been developed in this population. OBJECTIVE: To propose a new version of the Geneva score adapted to pregnant women with suspected PE. METHODS: Data from a multicenter, prospective management outcome study including 395 women with suspected PE, in whom PTP was assessed using the Geneva score, were used. We first removed items which were present in none of the patients (cancer, age >65 years). Receiver operating characteristic (ROC) curve analysis was then performed for quantitative variables and the optimal threshold defined. The obtained Pregnancy-Adapted Geneva Score (PAG Score) comprised seven items, including an age 40 years or older and a heart rate >110 beats per minute. RESULTS: The PAG Score showed a high discriminative power to identify patients with a low, intermediate, or high PTP, associated with increasing prevalence of PE, 2.3%, 11.6%, and 61.5%, respectively. The ROC curves showed an area under the curve of 0.795 for the PAG Score compared to 0.684 for the Geneva score. CONCLUSION: In pregnant women with suspected PE, the PAG Score shows a high discriminative power to identify patients at low, intermediate, or high PTP. It has the strength of being a fully objective decision rule, is clinically relevant, easy to compute, and should now be tested in a prospective outcome study.
Assuntos
Complicações na Gravidez/epidemiologia , Embolia Pulmonar , Adulto , Feminino , Produtos de Degradação da Fibrina e do Fibrinogênio , Humanos , Gravidez , Prevalência , Probabilidade , Estudos Prospectivos , Embolia Pulmonar/diagnóstico , Embolia Pulmonar/epidemiologia , Curva ROCRESUMO
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: 42.8â±â11.2). 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, Pâ<â0.001). Age of patient at the evaluation was found negatively correlated with QOL (-0.76 per year, 95% CI: -1.47 to -0.06, Pâ=â0.009). Presence of psychological disorders was associated with a lower QOL (-9.6 points lower to those without, 95% CI: -13.34 to -5.86, Pâ<â0.0001). 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.
Assuntos
Doença de Crohn , Qualidade de Vida , Adolescente , Criança , Doença de Crohn/terapia , Estudos Transversais , Emoções , Feminino , Humanos , Inquéritos e QuestionáriosAssuntos
Endoscopia por Cápsula/métodos , Enteroscopia de Duplo Balão/métodos , Hemorragia Gastrointestinal , Neoplasias Gastrointestinais , Trato Gastrointestinal , Nevo Azul , Escleroterapia/métodos , Neoplasias Cutâneas , Coagulação com Plasma de Argônio/métodos , Criança , Hemorragia Gastrointestinal/etiologia , Hemorragia Gastrointestinal/prevenção & controle , Neoplasias Gastrointestinais/complicações , Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/fisiopatologia , Neoplasias Gastrointestinais/cirurgia , Trato Gastrointestinal/irrigação sanguínea , Trato Gastrointestinal/diagnóstico por imagem , Trato Gastrointestinal/cirurgia , Humanos , Masculino , Nevo Azul/complicações , Nevo Azul/diagnóstico , Nevo Azul/fisiopatologia , Nevo Azul/cirurgia , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/fisiopatologia , Neoplasias Cutâneas/cirurgia , Resultado do Tratamento , Veias/anormalidadesRESUMO
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 13.96â±â0.25 years) were included and 21 were excluded (16 for "candy test" failure). Esophageal varices were identified by EGD in 62 patients (77â%) and by ECE in 57 patients (70â%) using the de Franchis classification (DFC). The sensitivity of ECE for esophageal varices was 92â% and the specificity was 100â% 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 55â%, 92â%, 89â%, and 63â%, respectively, giving a total overall accuracy of 72â%. To improve sensitivity and specificity in classification of esophageal varices, we propose using a modified score. This score detected esophageal varices with 100â% sensitivity, 93â% specificity, 94â% PPV, and 100â% NPV, giving a total overall accuracy of 97â%. 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 EspecificidadeRESUMO
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 RealRESUMO
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/metabolismoRESUMO
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 JovemRESUMO
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 , Mucosa/patologia , Recidiva , Estudos Retrospectivos , Índice de Gravidade de DoençaRESUMO
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
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 , MasculinoRESUMO
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.