Hôpital-Camfrout, France
Hôpital-Camfrout, France

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Kemeze S.,University of the Mountains | Moudze B.,Departement de Pediatrie | Chiabi A.,Service de Pediatrie et sous Specialites Pediatriques | Eposse C.,Departement de Pediatrie | And 3 more authors.
Pan African Medical Journal | Year: 2016

Introduction: the World Health Organization has estimated that the global incidence of neonatal deaths was 2, 8 million in 2015, of which 47, 6% were due to infections. These infections can affect newborns babies ages 0-1 month through 3 months. Methods: this is a prospective study conducted from 1 March to 30 June 2015 in the Neonatology service of the Laquintinie Hospital at Douala. All symptomatic newborns with or without anamnestic criteria and all asymptomatic newborns, with at least an infectious risk and a positive blood culture or an abnormal blood count or positive C-reactive protein were included in the study. Results: of the 310 newborns enrolled in the study, 300 were retained for neonatal infection, corresponding to a total incidence of 96.8%. We performed 104 cultures, of which 25 were positive, corresponding to an incidence of confirmed neonatal infection of 24%. The factors associated with infection were unexplained preterm birth < 35 weeks of amenorrhea (45, 1%) and neonatal resuscitation (34, 8%). Fever (56%) and neurological disorders (48.8%) were the most frequent clinical symptoms. Gram-negative bacteria were the most frequent germs (56%). Imipenem (95%) and amikacin (66.7%) were the most effective antibiotics. Outcome was favorable in 66, 4% of cases and the overall mortality rate was 33, 6%. Conclusion: this study revealed a high prevalence of neonatal bacterial infection in this Hospital. Bacterial ecology was dominated by Gram-negative bacteria. It was recorded a significant resistance to the most widely used antibiotics and a fairly high mortality. © Sandrine Kemeze et al.

Moussiliou A.,University of Paris Descartes | Moussiliou A.,CIRAD - Agricultural Research for Development | Moussiliou A.,University Pierre and Marie Curie | Alao M.J.,Departement de Pediatrie | And 13 more authors.
Journal of Infectious Diseases | Year: 2015

Loss of endothelial protein C receptor (EPCR) occurs at the sites of Plasmodium falciparum-infected erythrocyte sequestration in patients with or who died from cerebral malaria. In children presenting with different clinical syndromes of malaria, we assessed the relationships between endogenous plasma soluble EPCR (sEPCR) levels and clinical presentation or mortality. After adjustment for age, for treatment before admission, and for a known genetic factor, sEPCR level at admission was positively associated with cerebral malaria (P =. 011) and with malaria-related mortality (P =. 0003). Measuring sEPCR levels at admission could provide an early biological marker of the outcome of cerebral malaria. © 2014 The Author. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved.

Anheim M.,University of Strasbourg | Anheim M.,French National Center for Scientific Research | Fleury M.,University of Strasbourg | Monga B.,French National Center for Scientific Research | And 16 more authors.
Neurogenetics | Year: 2010

While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two most frequent forms of autosomal recessive cerebellar ataxia (ARCA), knowledge on the other forms of ARCA has been obtained only recently, and they appear to be rarer. Little is known about the epidemiological features and the relative frequency of the ARCAs and only few data are available about the comparative features of ARCAs. We prospectively studied 102 suspected ARCA cases from Eastern France (including 95 from the Alsace region) between 2002 and 2008. The diagnostic procedure was based on a sequential strategic scheme. We examined the clinical, paraclinical and molecular features of the large cohort of patients and compared features and epidemiology according to molecular diagnosis. A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sjögren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2). The group of patients with no identified mutation had a significantly lower spinocerebellar degeneration functional score corrected for disease duration (SDFS/DD ratio; p=0.002) and comprised a significantly higher proportion of cases with onset after 20 years (p<0.01). Extensor plantar reflexes were rarer and cerebellar atrophy was more frequent in the group of patients with a known non-Friedreich ARCA compared to all other patients (p<0.0001 and p=0.0003, respectively). Lower limb areflexia and electroneuromyographic evidences of peripheral neuropathy were more frequent in the Friedreich ataxia group than in the group with a known non-Friedreich ataxia and were more frequent in the later group than in the group with no identified mutation (p=0.0001 and p=0.01, respectively). The overall prevalence of ARCA in Alsace is 1/19,000. We can infer the prevalence of FRDA in Alsace to be 1/50,000 and infer that AT is approximately eight times less frequent than FRDA. MSS, AOA2 and ARSACS appear only slightly less frequent than AT. Despite the broad variability of severity, Friedreich ataxia patients are clinically distinct from the other forms of ARCA. Patients with no identified mutation have more often a pure cerebellar degenerative disease or a spastic ataxia phenotype. It appears that ARCA cases can be divided into two major groups of different prognosis, an early-onset group with a highly probable genetic cause and an adult-onset group with better prognosis for which a genetic cause is more difficult to prove but not excluded. ARCAs are rare, early-disabling and genetically heterogeneous diseases dominated by FRDA. Several of the recently identified ARCAs, such as AVED, ARSACS, AOA1, AOA2 and MSS, have a prevalence close to AT and should be searched for extensively irrespective of ethnic origins. The strategic scheme is a useful tool for the diagnosis of ARCAs in clinical practice. © 2009 Springer-Verlag.

Grimaldi C.,Marseille University Hospital Center | Bremont F.,Departement de pediatrie | Berlioz-Baudoin M.,Nice University Hospital Center | Brouard J.,Caen University Hospital Center | And 10 more authors.
European Journal of Pediatrics | Year: 2015

The influence of the generalization of cystic fibrosis newborn screening (CFNBS) in France on sweat test (ST) prescription is unknown. In this French retrospective, descriptive, and multicenter study, we studied the indications, number, methods, and results of STs prescribed by a pediatric pulmonologist in children who had a negative CFNBS and an ST for respiratory symptoms in 2012. We included 502 children with 523 STs, performed with four different methods. The main indication was asthma (71.3 %), then chronic cough (52.4 %), atypical lower airway infections (42.2 %), and bronchiectasis (7 %). Four children had a diagnosis of CF (0.8 %), all presenting with chronic productive cough and recurrent respiratory infections. Conclusion: Asthma is the most frequent indication of ST in our cohort. Because of the systematic CFNBS in France, some prescriptions should be avoided, particularly in case of severe or moderate asthma with no other associated symptom. Moreover, methods of STs often do not follow the guidelines and need standardization.What is Known:• Newborn screening (NBS) has become the most frequent circumstance of the diagnosis of cystic fibrosis (CF) in France after its generalization.• The prescription of sweat test (ST) in children with respiratory symptoms who already had a negative NBS has not been studied.What is New:• In children with a negative CF NBS referred to a university hospital for respiratory diseases, despite important variations of ST methods, only 4 children among 502 have been diagnosed as CF.• Despite recommendations, ST prescription should be avoided in children with moderate to severe asthma and no other associated symptom. © 2015, Springer-Verlag Berlin Heidelberg.

Moortgat S.,Institute Of Pathologie Et Of Genetique | Verellen-Dumoulin C.,Institute Of Pathologie Et Of Genetique | Maystadt I.,Institute Of Pathologie Et Of Genetique | Parmentier B.,Institute Of Pathologie Et Of Genetique | And 3 more authors.
European Journal of Medical Genetics | Year: 2011

Interstitial deletions of the long arm of chromosome 3 are rare and detailed genotype-phenotype correlations are not well established. We report on the clinical, cytogenetic and molecular findings of a 5-year-old patient with a de novo interstitial deletion from 3q25.1 to 3q25.32. Clinical features include relative microcephaly, developmental delay and facial dysmorphism with a coarse face, ptosis, synophrys, epicanthic folds, broad nasal bridge, long philtrum, large mouth with full lips, dysplastic and low-set ears.Revealed by conventional banding techniques, the deleted region of 8.9 Mb was confirmed by fluorescent in situ hybridization (FISH) analyses and array comparative genomic hybridization (array-CGH). To our knowledge, this is the smallest interstitial deletion reported in the 3q25 region. The phenotype of our patient is compared with the 10 previously reported cases implicating the 3q25 region. © 2010.

Gravel J.,Departement de Pediatrie | Gouin S.,Departement de Pediatrie | Chalut D.,McGill University | Crevier L.,Departement de Chirurgie | And 3 more authors.
CMAJ | Year: 2015

Background: There is no clear consensus regarding radiologic evaluation of head trauma in young children without traumatic brain injury. We conducted a study to develop and validate a clinical decision rule to identify skull fracture in young children with head trauma and no immediate need for head tomography. Methods: We performed a prospective cohort study in 3 tertiary care emergency departments in the province of Quebec. Participants were children less than 2 years old who had a head trauma and were not at high risk of clinically important traumatic brain injury (Glasgow Coma Scale score < 15, altered level of consciousness or palpable skull fracture). The primary outcome was skull fracture. For each participant, the treating physician completed a standardized report form after physical examination and before radiologic evaluation. The decision to order skull radiography was at the physician's discretion. The clinical decision rule was derived using recursive partitioning. Results: A total of 811 patients (49 with skull fracture) were recruited during the derivation phase. The 2 predictors identified through recursive partitioning were parietal or occipital swelling or hematoma and age less than 2 months. The rule had a sensitivity of 94% (95% confidence interval [CI] 83%-99%) and a specificity of 86% (95% CI 84%-89%) in the derivation phase. During the validation phase, 856 participants (44 with skull fracture) were recruited. The rule had a sensitivity of 89% and a specificity of 87% during this phase. Interpretation: The clinical decision rule developed in this study identified about 90% of skull fractures among young children with mild head trauma who had no immediate indication for head tomography. Use of the rule would have reduced the number of radiologic evaluations by about 60%. © 2015 8872147 Canada Inc. or its licensors.

Chargui J.,Innate Pharma | Combaret V.,French Institute of Health and Medical Research | Scaglione V.,Innate Pharma | Iacono I.,French Institute of Health and Medical Research | And 9 more authors.
Journal of Immunotherapy | Year: 2010

Gamma/delta T cells (Vγ9δ2) contribute to innate immunity and exert natural cytotoxicity against a variety of tumors. Using a synthetic phosphoantigen (Bromohydrin Pyrophosphate, BrHPP), we amplified Vγ9δ2 T cells in vitro from neuroblastoma patients. In the presence of BrHPP and low doses of IL-2, robust proliferation of Vγ9δ2 T cells was obtained from peripheral blood mononuclear cells (PBMC) harvested at diagnosis. Moderate proliferation was observed from PBMC harvested after stem cell transplantation, whereas modest levels of Vγ9δ2 T cells were obtained from PBMC harvested after induction therapy. Proliferation was observed after a single in vitro stimulation with BrHPP. After 21 days in culture, Vγ9δ2 T cells represented more than 80% of cultured cells (a 50-fold expansion from baseline). Moreover, BrHPP-amplified Vγ9δ2 T cells from patients-expressed activation markers and were able to lyse allogeneic and autologous neuroblasts. This cytotoxic activity was γδ T-cell receptor-dependent. Clinical trials using BrHPP are warranted in patients with poor-prognosis neuroblastoma, either to expand patient-derived Vγ9δ2 T cells ex vivo or by direct administration to in vivo to boost the pool of resident Vγ9δ2 T cells in vivo. Copyright © 2010 by Lippincott Williams & Wilkins.

PubMed | Departement de pediatrie.
Type: Journal Article | Journal: Paediatrics & child health | Year: 2010

The death of a child is a tragedy resulting in family trauma and disorganization. The present study sought to evaluate the intensity of grief experienced by parents who have lost a child in the perinatal period (stillbirth, premature baby, term baby less than one month) and parents who have lost a child after the perinatal period (one month to 18 years).To compare the intensities of the bereavement reactions among grieving parents and to follow the course of such phenomena, a detailed bereavement questionnaire (the French version of the Texas Revised Inventory of Grief [TRIG-F]) was used. The TRIG-F is a three-part questionnaire that quantifies the intensity of grief near the time of death and in the present, and the perceived capacity of coping.Seventy-one bereaved parents, representing 43 families, completed the questionnaire. Parents who lost a child after the perinatal period showed grief at a higher intensity, measured by the TRIG-F, than parents who had lost a child in the perinatal period (83+/-22 versus 69+/-20 [mean+/-SD]; P=0.004). Mothers expressed a greater intensity of grief than fathers. No significant difference between mothers of the perinatal group and mothers of the postperinatal group was shown. Sudden death and death ocurring at home were associated with a higher grief intensity.Bereavement after the loss of a newborn or an older child is intense and prolonged. These findings support the importance of bereavement care for grieving parents and suggest that these parents appreciate help from health care professionals.

PubMed | Service de Biochimie Metabolique Hopital Femme Mere Enfant, Service de Neuropediatrie Hopital Gui de Chauliac, Service de Biochimie Metabolique Hopital Necker Enfants Malades, Departement de Pediatrie Hopital Jean Verdier and 8 more.
Type: | Journal: JIMD reports | Year: 2016

Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms.We present a retrospective descriptive multicentric study concerning ten French children with a biochemical and molecular confirmed diagnosis of AADC deficiency.Clinical presentation of most of our patients was consistent with the previous descriptions from the literature (hypotonia (nine children), autonomic signs (nine children), sleep disorders (eight children), oculogyric crises (eight children), motor disorders like hypertonia and involuntary movements (seven children)). We described however some phenotypic particularities. Two patients exhibited normal intellectual abilities (patients already described in the literature). We also underlined the importance of digestive symptoms like diarrhea, which occurred in five among the ten patients. We report in particular two children with chronic diarrhea, complicated by severe failure to thrive. Vanillactic acid (VLA) elevation in urines of one of these two patients led to suspect the diagnosis of AADC deficiency, as in two other patients from our population.Some symptoms like chronic diarrhea were atypical and have been poorly described in the literature up to now. Diagnosis of the AADC deficiency is sometimes difficult because of the phenotypic heterogeneity of the disease and VLA elevation in urines should suggest the diagnosis.

PubMed | Seattle Childrens Hospital, University of Verona, Departement de Pediatrie, Dokuz Eylül University and 18 more.
Type: Journal Article | Journal: Orphanet journal of rare diseases | Year: 2016

Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental glomerulosclerosis (FSGS) of SIOD by altering renal gene expression. We tested this hypothesis by gene expression analysis of an SIOD patient kidney and verified these findings through immunofluorescent analysis in additional SIOD patients and a genetic interaction analysis in Drosophila.We found increased expression of components and targets of the Wnt and Notch signaling pathways in the SIOD patient kidney, increased levels of unphosphorylated -catenin and Notch1 intracellular domain in the glomeruli of most SIOD patient kidneys, and genetic interaction between the Drosophila SMARCAL1 homologue Marcal1 and genes of the Wnt and Notch signaling pathways.We conclude that increased Wnt and Notch activity result from SMARCAL1 deficiency and, as established causes of FSGS, contribute to the renal disease of most SIOD patients. This further clarifies the pathogenesis of SIOD and will hopefully direct potential therapeutic approaches for SIOD patients.

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