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Biomedical subjects

M Rodière

Publications and source records attributed to M Rodière.

At least 19 recordsLinked to original sources

A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients.

BACKGROUND: The diagnostic value of molecular analysis of the familial Mediterranean fever (FMF) gene (Mediterranean fever (MEFV)) has been well established only in patients selected on the basis of ethnic background or clinical criteria. Genetic diagnosis for other hereditary periodic fever syndromes has been poorly evaluated. OBJECTIVE: To determine the diagnostic contribution of genetic tests for hereditary periodic syndromes in a large, unselected series of patients. METHODS: A retrospective study was conducted on 1941 patients referred to us for FMF genetic tests between 1997 and 2005. MEFV genotypes were compared with clinical data to appraise criteria for FMF diagnosis. Genetic tests for tumour necrosis factor receptor-associated periodic syndrome (TRAPS), hyperimmunoglobulinaemia D syndrome (HIDS) and cryopyrin-associated periodic syndromes (CAPS) were also reviewed. RESULTS: 71% of the 1574 patients with enough data had a clinical diagnosis of FMF according to the widely used Israeli criteria. Two MEFV mutations were found in only 409 patients of this subgroup (sensitivity = 37%) and in 15 (3.3%) of the patients with an improbable clinical diagnosis of FMF (specificity = 97%). Molecular diagnosis for alternate hereditary periodic syndromes was carried out in 456 of the patients having a non-conclusive FMF genetic test. A positive diagnosis was obtained in 31 of these patients (TRAPS (n = 19), HIDS (n = 4) and CAPS (n = 8)). CONCLUSIONS: First-line MEFV mutation screening in patients with clinically typical FMF may be appropriate only in particular areas. To optimise genetic diagnosis, we propose a decision tree, which, with the advice of an expert practitioner, could help redirect test indications towards non-FMF hereditary periodic syndromes.

Adolescent↗

[Paravertebral streptococcal myositis complicated by an epidural abscess in a 5-year-old girl].

CASE REPORT: A 5-year-old girl was hospitalised for fever, abdominal and lumbar pain, associated with general impairment state and a whitlow. One of the blood cultures and CSF grew A beta haemolytic Streptococcus, muscular echography and MRI showed paravertebral myositis, which was complicated by an epidural abscess. The outcome was good with medical treatment alone. DISCUSSION: Streptococcal myositis is a rare and severe skeletal muscle infection caused by A beta haemolytic Streptococcus. It is characterized by a muscle necrosis, without abscess formation. It has to be distinguished from pyomyositis, usually caused by Staphylococcus aureus, where a muscle abscess occurs, which must be treated by surgical drainage and antibiotics. Prognosis of this infection is poorer than other muscle infections such as pyomyositis, with a high mortality rate. The diagnosis is difficult and often delayed. Practitioners should keep in mind this diagnosis, even if symptoms are non specific, in front of an undetermined infectious syndrome associated with pain, and make an echography or nuclear magnetic resonance imaging to confirm the diagnosis.

Administration, Oral↗

[Imaging benign tumors of the pleura].

Five percent of pleural tumors are benign. Solitary fibrous tumors are the most frequent. We recall the clinical and pathological features and present the radiographic, computed tomographic and magenetic resonance imaging results obtained for the main types of benign tumors of the pleura.

Diagnostic Imaging↗

[Quality of life in HIV-infected children and adolescents under highly active antiretroviral therapy: change over time, effects of age and familial context].

OBJECTIVE: To evaluate Quality of life (QoL) of HIV-infected children under highly active antiretroviral therapies, and its change over 18 months. MATERIALS AND METHODS: QoL was evaluated by self-administred questionnaires (french versions of AUQUEI, OK-ado, and compilation of both) in 23 young living with HIV/AIDS (6-15 yrs), under antiretroviral multitherapies, and re-evaluated 18 months later in 19 of them. RESULTS: At baseline, QoL in HIV-infected children-adolescents was relatively good. The answers given to each items and the mean score from infected children were similar to those obtained in uninfected healthy children. Moreover, infected adolescents distinguished definitly from healthy adolescents, describing higher QoL. The mean satisfaction score from the whole group decreased between M0 and M18 (mainly in the youngests), and mainly concerned 3 fields (self-esteem, health and school) while their somatic health remained stable or improved. An effect of the familial context was also observed for these 3 fields. CONCLUSION: The progressive decline of QoL in HIV-infected children, and the surprising high and steady level of satisfaction over-time provided by the adolescents, underlined the frailty of this population and the need for a psychologic management associated to the medical follow-up. Such a multidisciplinary approach should take into account the preoccupations and difficulties of each age-class, those linked to the diagnosis itself, and to the familial or scolar contexts, in order to preserve QoL of this pediatric population, as far as possible, in a long term.

Adolescent↗

[Salmonella infections in children: a retrospective study over a four-year period].

OBJECTIVES: Epidemiological state of salmonella infections in Languedoc-Roussillon (France) and discussion of therapeutic indications. MATERIAL AND METHOD: Retrospective study over a four-year period of paediatric salmonella infections requiring hospitalisation in Montpellier University Hospital. Analysis of clinical, bacteriological, laboratory and therapeutic data. RESULTS: One hundred and sixty nine cases of paediatric salmonella infections have been investigated. The clinical triad consisted of diarrhea, abdominal pain and fever. Six severe cases have been observed and seemed to have been independent of patient's background. Laboratory findings showed inconstantly hyperleucocytosis and increase in CRP levels. Stool analysis remained the reference laboratory test to detect salmonella. Two major strains of salmonella have been identified: Salmonella enterica subsp. enterica serovar Typhimurium and Enteriditis. Treatments have been essentially symptomatic but 20% of the children (n=34) required antibiotic therapy. A favourable outcome was observed in all the children. DISCUSSION: Incidence of salmonella infections is increasing in France, particularly in the Languedoc-Roussillon area. Diagnosis of mild forms is generally easy but certain patient background seems to expose to severe forms. Treatment of salmonella infections is mainly symptomatic, only severe or specific cases (young age, immunodepression...) requiring antibiotic treatment. The growing antibiotic use and the increasing of resistance are currently the main problems in the management of salmonella infections. Those infections remain a public health problem in Languedoc-Roussillon.

Adolescent↗

Initial presentation of childhood-onset systemic lupus erythematosus: a French multicenter study.

OBJECTIVE: To describe the clinical and laboratory manifestations of childhood-onset systemic lupus erythematosus (SLE) at presentation. STUDY DESIGN: This retrospective French multicenter study involved 155 patients in whom SLE developed before the age of 16 years. Mean patient age at onset was 11.5 +/- 2.5 years (range, 1.5-16 years). The female to male ratio was 4.5. RESULTS: The most common initial manifestations were hematologic (72%), cutaneous (70%), musculoskeletal (64%), renal (50%), and fever (58%). Thirty-two percent of children had atypical symptoms, mainly including abdominal involvement in 26 patients, which lead to negative laparotomy results for presumed appendicitis. Severe renal, neurologic, hematologic, abdominal, cardiac, pulmonary, thrombotic, and/or cutaneous manifestations occurred within the first month after the diagnosis in 40% of patients. The mean erythrocyte sedimentation rate was 72 +/- 29 mm/h, and the mean C-reactive protein value 22 +/- 21 mg/L. Antinuclear antibodies an, anti-double stranded DNA antibodies, and low C3 or C4 level were retrieved in 97%, 93%, and 78 % of patients, respectively. CONCLUSION: Initial manifestations of childhood-onset SLE are diverse and often severe. The diagnosis of SLE should be promptly considered in any febrile adolescent with unexplained organ involvement, especially when associated with an increased erythrocyte sedimentation rate.

Child↗

[Pleural empyema in children: Montpellier's experience].

OBJECTIVES AND METHOD: To assess the management of pleural empyema in pediatric from a medical and surgical experience and a review of the literature. STUDY: Fifty-eight cases were reviewed from January 98 to December 2003. 62.6% have already received antibiotherapy. Forty-three percent of cases were less than three years old. Initial cultures identified Streptococcus pneumoniae in 39%, Streptococcus pyogenes in 5.6%, Mycoplasma pneumoniae and Staphylococcus aureus in only one case and were negative in 47%. A primitive or second-line thoracoscopy were used for drainage in two-third of the cases and mainly 6.95 days after admission. Located pleural empyema and major collected volume were the main indications for thoracoscopy. Three cases have been converted into open thoracotomy. One death occurred in an immunocompromised child. All patients were well at last follow-up. DISCUSSION: The frequency of parapneumonic empyema has increased since ten years. Progress of echography and endoscopy changed their management. Antibiotics have to be effective against pneumococcal infection. Chest tube drainage is necessary to assure the lung reexpansion in case of fibropurulent collection. The difficulty is to optimise the time of video-assisted thoracoscopy (VAT) using predictive criteria as loculations and pneumatoceles. VAT allowed the aspiration of pleural fluid and removing of fibrinous loculations. Moreover VAT achieved optimal adhesiolysis and the irrigation or decortication of the pleural cavity. VAT minimized duration of stay, of chest tube drainage and the indications of thoracotomy.

Anti-Bacterial Agents↗

[Epidemiology of Human Metapneumovirus in respiratory tract diseases of children: preliminary results].

BACKGROUND: Human metapneumovirus (hmpv) is a newly identified agent responsible for respiratory tract infections in children, especially before one year of age. A prospective epidemiological study is underway to better define the spectrum of the disease in France. PATIENTS AND METHODS: From November 2003 to November 2004, rhinopharyngeal aspirates were obtained from all children under five years of age admitted to the hospital with upper or lower airway symptoms. Viral identification was made using gene amplification. RESULTS: Among 355 evaluable samples to date, 34 were positive for hmpv genome. Mean age of infected children was 6.4 months, 20.5% were prematurely born infants. The prognosis is usually good. CONCLUSION: Our preliminary results are consistent with the available literature data. Further studies are needed to better define the exact frequency and morbidity of this newly recognized infection, both in hospital and community settings.

Child↗

[Group B streptococcal infection with 2 recurrences in a newborn].

UNLABELLED: Group B III streptococcus (GBS) is a predominant pathogen in neonates in France. Relapse is rare and two successive relapses are exceptional: only three cases have been yet reported. CASE REPORT: A newborn infant of 18 days of age presented a first episode of invasive group B III streptococcal infection with meningitis and ventriculitis. At 53 days of age, a second episode with bacteriemia and parotidis appeared. At 63 days of age, she presented a third episode with meningitis. Genome analysis of the three bacterial strains isolated during the three episodes showed the same clonal origin. COMMENTS: We discuss the incidence of the treatment, the eventual presence of a penicillin-tolerant GBS, the possible relapse or recurrence of the pathogen and the role of the relative immunodeficiency in infant.

Age Factors↗

[Family socioeconomic deprivation and vulnerability in the pediatric emergency room: evaluation and management].

OBJECTIVE: The aim of this study was to evaluate the importance of socioeconomic deprivation and other forms of vulnerability in families attending the pediatric emergency unit (PEU). It was based on a five-level classification of family types and an analysis of responses provided by the French healthcare system. METHOD: The prospective study involved 150 families admitted to the PEU on the basis of open-response interviews that analyzed demographic and socio-economic characteristics, motivations for consultation, the child's quality of life, family problems experienced by the parents, and their support network. RESULTS: Five categories of families were defined as follows: complete destitution necessitating immediate social measures (0.7%); acknowledged and well-managed economic deprivation (13.3%), unacknowledged and/or complex economic deprivation with a significant deterioration in the quality of life (22.2%), familial psychological vulnerability without economic deprivation (30.4%), and families without any apparent problems (33.7%). Consultation at the PEU appears to be a multifactorial phenomenon motivated by socioeconomic, psychological and cultural factors. This phenomenon is connected with the present-day imbalance in the healthcare system, which does not adequately respond to the needs of vulnerable families. CONCLUSION: This survey contributes to the current reflection on the integration of psychosocial factors in child healthcare at both the hospital and local community level. The method described herein has determined the factors of vulnerability and the risks of economic deprivation. It can contribute to the development of improved communication and cooperation between practitioners, the hospital and local social workers.

Adult↗

[Reduction of antibiotic treatment of bacterial meningitis in children. Value of C-reactive protein monitoring].

The duration of antibiotic treatment of bacterial meningitis is always a topical issue. In our study (58 children), 21 of 24 meningococcal meningitis were treated for 4 or 5 days, 16 of 22 Haemophilus influenzae and 4 of 6 pneumococcal meningitis were treated for 7 days without increase in neurologic sequelae. A return of blood CRP levels to normal values was observed in all these patients simultaneously. Thus, CRP seems to be a good biological parameter for discussing treatment discontinuation. Furthermore, in some complications such as subdural effusion, a new increase of CRP levels was observed after the 5th day. A sequential follow-up of CRP levels at days J0, 5, 7, 10, seems a very useful tool for management of bacterial meningitis.

Adolescent↗

[Hazards of ultrasonography of the hip].

We studied the value of ultrasound examination combined with conventional clinical evaluation in screening for congenital defects of the hip in a study including more than 3,000 neonates. We used two kinds of ultrasound methods, i.e. the morphological method, that is highly standardized and seeks to identify several well-defined anatomic landmarks (Graf's technique), and the dynamic method, that uses transverse flexion, frontal flexion or medial sections to determine the degree of stability of the hip. We describe these sections in detail so that pediatricians may correctly appreciate the images obtained. The respective indications of each section depend on the findings made as the investigation advances. Rigorous adherence to precise rules is now possible and is the only means for ensuring that these techniques will be used rationally in a way that can be expected to significantly reduce the still considerable number of dislocations and dysplasias of the hip discovered beyond three months of age.

Evaluation Studies as Topic↗

[Materno-fetal infections caused by unusual germs. Apropos of 9 cases].

A retrospective study carried out from January 1981 through August 1988 identified nine cases of materno-fetal infections (Staphylococcus aureus, 1 case; Klebsiella pneumoniae, 3 cases; enterococcus, 3 cases; Hemophilus influenzae, 1 case; and Pneumococcus, 1 case) in six girls and three boys; four premature infants developed respiratory distress requiring mechanical ventilation. In four cases, maternal history found risk factors for infection. All patients developed circulatory failure and one had purulent meningitis. Diagnosis was confirmed upon recovery of the microorganism from a central sample in six cases; in three cases, only the peripheral cultures were positive but diagnosis was supported by the positive maternal history and by clinical findings. Bacterial species were not associated with specific clinical or biological features, but infections due to Hemophilus influenzae, Klebsiella pneumoniae and pneumococcus were particularly severe (two deaths and two infants with neurologic sequelae). In some studies, unusual microorganisms account for 46% of septicemias and 36% of purulent meningitis. Group D streptococci are the most common bacteria in this category and may account for 10% to 15% of early neonatal septicemias. Organism-specific features are analyzed on the basis of data from the literature. Concerning therapy, this epidemiologic aspect of materno-fetal infections complicates the choice of the initial antimicrobial agents; because third-generation cephalosporins are not effective on listeria and group D streptococci, we advocate more widespread use of the ureidopenicillins instead of ampicillin.

Anti-Bacterial Agents↗

[Fatal cerebral toxoplasmosis in a leukemia child in remission].

We report the case of a 4 year-old boy who died from cerebral toxoplasmosis while in remission from acute lymphoblastic leukemia. The clinical picture was remarkably insidious and non specific: diagnosis is particularly difficult in immunodepressed patients. Diagnosis was made on seroconversion. No autopsy was performed. An association of sulfadiazine-pyrimethamine is often effective, but the prognosis is poor in the absence of a specific and precocious treatment.

Brain Diseases↗