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C Thumerelle

Publications and source records attributed to C Thumerelle.

At least 19 recordsLinked to original sources
PubMed2006

[Ataxia-telangiectasia: a review].

Ataxia-telangiectasia (AT) is an autosomal recessive inherited disease caused by mutational inactivation of the ATM gene. It is a multisystemic disease, characterized by progressive neurological dysfunction, especially in the cerebellum, oculo-cutaneous telangiectasia, immunodeficiency, recurrent sino-pulmonary infections and high incidence of neoplasms. The responsible gene, ATM, encodes a large protein that belongs to a family of protein kinases with a phosphatidylinositol 3-kinase (Pi3K) domain. ATM is a key regulator of cell cycle checkpoints that causes DNA repair or apoptosis. Several studies report ATM function in target cells (such as neurons, fibroblast, endothelium, germ cells, lymphocytes). The pleiotropic phenotypes of AT reflect the multifaceted activities of ATM protein. In nucleus (lymphocytes, fibroblasts, germ cells) ATM is involved in regulation of cell-cycle checkpoints; in cytoplasm ATM regulates redox state (neurons).

Adolescent↗
PubMed2006

Parental knowledge and use of epinephrine auto-injector for children with food allergy.

Epinephrine should be prescribed for patients at risk of anaphylaxis. Our purpose was to determine the use of Anapen prescribed for food-allergic children, to assess parental knowledge regarding Anapen, and to evaluate the arrangements for emergency kits and personalized care projects in everyday life. A prospective study was performed with a questionnaire sent to families with a food-allergic child previously prescribed Anapen. One hundred and fifty two families were contacted and finally 111 children included (median age 6.5 yrs). Main food allergens were peanuts (n = 89), egg (n = 39) and cow's milk (n = 10). The use of Anapen had been demonstrated to 90% of parents (by prescribing physician, 69%; pharmacist, 25%; general practitioner, 5%; nurse 1%), with a training device (76%) and/or written instructions (49%). When asked to list symptoms requiring injection, 48% of parents cited more than one response: breathing difficulties only (23%), or with angio-edema (41%), collapse or faintness (38%), anaphylactic shock (48%). Of 107 children attending school, 54% had a personalized care project, 72% an Anapen device, and 60% a complete emergency kit (epinephrine, inhaled beta-agonist, corticosteroid, anti-H1 drug). Beta-agonists were forgotten at school by 34 children (13 asthmatics). Anapen was used in one child for angio-edema and dyspnea after inadvertent ingestion of egg at home. In our population, epinephrine auto-injectors and emergency kits were insufficiently available at schools and in daily life. The use of auto-injectors was not adequately demonstrated. The prescription of epinephrine for food-allergic children at risk of anaphylaxis requires accurate diagnosis, educational programs, information, and follow up.

Adolescent↗
PubMed2005

[Walking tests: a step forward for functional cardiorespiratory assessment].

Exercise testing provides information on physical capacity during exercise in addition to spirometric measures of lung function or assessment on treadmills or ergonomic cycle. The "gold standard" assessment of exercise tolerance is measured in the laboratory using treadmills or ergonomic cycle but the necessary equipment is expensive and may not be readily accessible; such tests require people used to work with children. Walking tests are field tests providing a valid and easily accessible method of measuring function-limited exercise tolerance in patients with respiratory or cardiac chronic diseases. These walking tests are non-threatening, inexpensive, easy to perform and to understand for children. Walking tests performed in daily practice are the following: "time-based" tests (2-, 6- or 12-min walking test), 3-min step test (on a step) and the shuttle walking test. It may be a useful measure to assess therapeutic intervention and provide information on the prognosis. They are simple and safe methods to evaluate quality of life in these patients.

Adolescent↗
PubMed2005

[Diagnosis and treatment of congenital bronchopulmonary malformations. A review of 32 cases].

OBJECTIVES: Analysis of our experience and propositions on the diagnosis and treatment of congenital bronchopulmonary malformations (BPM). POPULATION AND METHODS: Retrospective study of BPM diagnosed between 1997 and 2001. Analysis of clinical spectrum, diagnosis tools, treatment, and clinical outcome. RESULTS: Thirty-two cases of BPM have been investigated (11 cystic adenomatoid malformations, 7 pulmonary sequestrations, 7 bronchogenic cysts, 4 congenital lobar emphysema, and 3 complex emphysematous malformations). Nineteen patients had a prenatal diagnosis. For 9 others, symptoms occurred before 4 years of age. Evaluation included a CT-scan in all patients (BPM involution in one). Surgical treatment was performed in 30 patients (lobectomy in 18), with a mean age of 7 months for asymptomatic patients. During the follow-up (mean: 3 years), respiratory symptoms were reported in 10 cases, 3 of them were related to the BPM. DISCUSSION: Improvement in prenatal ultrasound diagnosis modified the management strategy. Considering the risk of pulmonary complications, surgical treatment is required during the first months of life. For congenital lobar emphysema, and some pulmonary sequestrations or small cystic adenomatoid malformations (<3 cm), conservative attitude may be preferred. BPM justify a multidisciplinary management.

Adolescent↗
PubMed2005

[Pulmonary hamartochondroma: a rare cause of solitary pulmonary nodule in children].

Solitary pulmonary nodules are rare in children. We report an eleven year-old girl evaluated for recurrent respiratory symptoms diagnosed with an intraparenchymal pulmonary hamartochondroma. Spiral computed tomography showed a pulmonary nodule in the middle lobe, 17 mm in diameter, without any specific features. In asymptomatic adult patients, guidelines for the management of solitary pulmonary nodules have been described. The management of solitary pulmonary nodules in pediatric patients is discussed.

Child↗
PubMed2005

[Radiologic manifestations of pulmonary tuberculosis].

Pulmonary tuberculosis is an endemic infection. Chest radiography is the mainstay in the evaluation of pulmonary tuberculosis. High resolution CT is required to detect fine lesions overlooked on chest radiographs, to define equivocal lesions, to determine disease activity in some cases and to evaluate complications or sequels. We review indications of chest radiograph and CT, the radiologic features of primary and post-primary tuberculosis, and outcome of tuberculous lesions.

Child↗
PubMed2004

[Nutrition and bronchopulmonary dysplasia].

Bronchopulmonary dysplasia remains a frequent complication of extreme prematurity. In preterm neonates catch-up and pulmonary alveolar growth occur during the first two years of life. However 10 to 25% of preterm infants with bronchopulmonary dysplasia are under-nourished after two years of age, and 30 to 60% of them also suffer from persistent airway obstruction, hyperinflation and bronchial hyperreactivity. Recommendations on nutritional requirements in this population are not yet clearly defined, but an adequate nutritional status in prenatal and early postnatal period can have long-term consequences on brain and lung development. There are a few randomised trial of nutrition for preterm infants with bronchopulmonary dysplasia after discharge. Caloric and protein requirements in this population are probably higher than in full-term infants. Moreover there are potential benefits in using specific nutrients: supplementation with long chain polyunsaturated fatty acids could decrease lung inflammation injuries, glutamine is the main source of energy of pneumocyte, vitamin A is essential for lung development, inositol is necessary for surfactant synthesis, vitamin E and selenium have anti-oxidant effects. Controlled nutritional trial are needed with a long term follow-up in late childhood in order to test their effects on growth and pulmonary status.

Bronchopulmonary Dysplasia↗
PubMed2003

Role of viruses and atypical bacteria in exacerbations of asthma in hospitalized children: a prospective study in the Nord-Pas de Calais region (France).

We studied the role of viruses and atypical bacteria in children hospitalized with exacerbated asthma by a prospective study of children with acute asthma admitted to the Department of Pediatrics in Lille, and to 15 hospitals in the Nord-Pas de Calais region, from October 1, 1998-June 30, 1999. We included children aged 2-16 years with active asthma, defined as three or more recurrent episodes of reversible wheezing. The severity of asthma and of asthmatic exacerbations was recorded. Immunofluorescence assays (IFA) on nasopharyngeal secretions (NPS), serological tests, or both, were used for detection of influenza virus, respiratory syncytial virus (RSV), adenovirus, parainfluenza virus, and coronavirus. Polymerase chain reaction (PCR) assays on NPS were used for rhinovirus and enterovirus. Serological tests for Chlamydia pneumoniae and Mycoplasma pneumoniae were performed. A control group of asymptomatic asthmatic outpatients was examined for respiratory viruses (using IFA and PCR). Eighty-two symptomatic children (mean age, 7.9 years) were examined. Viruses were detected in 38% (enterovirus, 15.8%; rhinovirus, 12%; RSV, 7.3%). Serological tests for atypical bacteria were positive in 10% of patients (C. pneumoniae, 5%; M. pneumoniae, 5%). Among the 27 control subjects (mean age, 7.9 years), one PCR was positive for enterovirus. There was no correlation between severity of chronic asthma or asthmatic exacerbations and the diagnosis of infection. Atypical bacterial pathogen infections were linked with prolonged asthmatic symptoms. In conclusion, we confirmed the high incidence of viral infection in acute exacerbations of asthma, especially enteroviruses or rhinoviruses. Persistent clinical features were more frequently associated with atypical bacterial infections, suggesting that these infections should be investigated and treated in cases of persistent asthmatic symptoms.

Adolescent↗
PubMed2003

[Hypertrophic pulmonary osteo-arthropathy revealed by a pulmonary epithelioid hemangioendothelioma in a 15-year-old girl].

UNLABELLED: Pulmonary epithelioid hemangioendothelioma is a rare vascular tumor of the lung, that may be revealed by hypertrophic pulmonary osteo-arthropathy. CASE REPORT: A 15-year-old patient was admitted because of a 1-month history of pneumonia associated with clubbing. A hypertrophic pulmonary osteo-arthropathy due to a paraneoplastic syndrome associated with lung epithelioid hemangioendothelioma was diagnosed. Despite surgical resection and chemotherapy, the patient died 6 months later. COMMENTS: Hypertrophic pulmonary osteo-arthropathy is a rare syndrome in childhood, and is frequently associated with chronic respiratory failure. Diagnosis is confirmed by long bones proliferative periostitis on standard X-ray examination. Pulmonary epithelioid hemangioendothelioma is a rare vascular malignant tumor, that spreads from the vascular pulmonary or hepatic tissues. The prognosis is variable, depending on the malignancy of the tumor. In the absence of a chronic cardiorespiratory disease, the diagnosis of a pulmonary hypertrophic osteo-arthropathy in childhood should prompt the search for a tumoral cause.

Adolescent↗
PubMed2003

[Reproducibility of the shuttle walk test in children with cystic fibrosis].

INTRODUCTION: Exercise testing is useful in the respiratory evaluation of patients with cystic fibrosis. The shuttle walk test (SWT) is a progressive, externally paced, exercise test requiring the subject to walk/run back and forth between two fixed points. The aim is to assess the reproductibility of the SWT in paediatric patients with cystic fibrosis. METHODS: This prospective study recruited 31 children with stable disease. The patients performed two SWT one day (SWT 1 and 2) and two others (SWT 3 and 4) within 15 days. Only SWT 2 and 4 were assessed for reproducibility. RESULTS: 61% were boys, median age (range): 12.9 (7-18.9) years, median Shwachman score (range): 80 (65-100), median values for FEV1 and FVC (range): 92 (55-154) and 92 (64-140)% predicted, respectively. Median distance for SWT 2-4 (range): 910 (580-1020) and 925 (540-1020) metres. Reproducibility for SWT distance and physical activity measured by an accelerometer is very good (intra-class correlation coefficient=0.90 and 0.92, respectively). SWT distance correlated with physical activity (p=3.10(-4)) and weight (p=0.03). SWT distance was independent of the following parameters: height, weight-for-age Z-score, FEV1, FVC, Shwachman score, colonisation with Pseudomonas aeruginosa. CONCLUSIONS: The SWT is reproducible in paediatric patients with cystic fibrosis and provides assessment of respiratory performance that complements spirometric measures of lung function.

Adolescent↗
PubMed2002

[Esophageal pH-metry in children with recurrent respiratory events: diagnosis value of a day time esophageal pH monitoring].

UNLABELLED: Detection of a gastroesophageal reflux in the aetiology of recurrent respiratory diseases is the main indication of continuous gastroesophageal pH-metry in children. The aim of the study was to measure the diagnostic value of a daytime esophageal pH monitoring in children with recurrent respiratory diseases. METHODS: One hundred seventeen continuous esophageal pH monitoring of 5 +/- 3 year-old children presenting recurrent respiratory diseases have been reviewed. For each record, an analysis of the total record period, then the diurnal record, then the nocturnal record period was performed. The reflux index, the number of reflux per hour, and the number of long lasting reflux (> 5 min) per hour were compared between different periods (total, diurnal, and nocturnal). RESULTS: For the reflux index, the sensibility, the specificity, the positive predictive value and the negative predictive value of the awake period in comparison with the continuous 24 h record, considering the same standards for both periods, were 97%, 46%, 72% and 92% respectively. The ROC graph analysis showed that the cut-off adaptation for the reflux index and for the number of reflux per hour, did not allow to improve the day pH-metry performance, since sensibility and specificity moved respectively from 66% to 56% for reflux index, and from 75% to 56% for the number of reflux per hour. CONCLUSION: In children explored for recurrent respiratory diseases, the night record has a bad diagnostic value and a negative diurnal record is strongly predictive of absence of pathological gastroesophageal reflux in these children. Because of the absence of paediatric specific standards for this disorder, it is not possible to reduce the recording time to the diurnal period.

Adolescent↗
PubMed2002

[Inhaled corticosteroids in asthma in infants and young children].

Inhaled corticosteroids have become the mainstain in the treatment of asthmatic children and adults. Asthma in infancy and early childhood is a heterogeneous condition, with different disease phenotypes and outcome. However, rationale data justifying the use of inhaled corticosteroids in toddlers and preschool children are now available. We recall the results of controlled trials studying the efficacy of inhaled corticosteroids, their potential side-effects, and their actual indications and modalities of prescription.

Administration, Inhalation↗
PubMed2001

[Purpura fulminans and coxsackie B2 co-infection].

INTRODUCTION: During septic shock in children, myocardial deficiency usually lasts 3 to 6 days. When prolonged, an other etiology should be looked for. OBSERVATION: A 29 month-old child presented with purpura fulminans, probably due to Neisseria meningitidis. Positivity of the serodiagnostic for coxsackie B2, performed because of persisting myocardial deficiency, evoked diagnosis of a coxsackie B2 co-infection. DISCUSSION: Abnormally prolonged myocardial deficiency during purpura fulminans must lead to the search for a congenital, metabolic or infectious cardiomyopathy.

Child, Preschool↗