77 results on '"S. Joriot"'
Search Results
2. Alimentation et polyhandicap chez l’enfant : mise au point de la commission « handicap » de la Société française de neurologie pédiatrique
- Author
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S. Joriot, F. Gottrand, B. Chabrol, M. Hully, and P. Fayoux
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03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,030212 general & internal medicine - Abstract
Resume L’alimentation de l’enfant porteur de polyhandicap, comme dans les formes severes de paralysie cerebrale, est un sujet de preoccupation au quotidien pour les parents et les equipes de reeducation presentes autour de lui. En effet, le plaisir et la convivialite du repas peuvent etre contraries par les difficultes de posture, de deglutition, de digestion ou encore des douleurs. L’evaluation reguliere de la croissance staturo-ponderale est necessaire selon des criteres adaptes a la population des enfants en situation de polyhandicap car le risque de denutrition est important. Nous decrivons les mecanismes a l’origine des difficultes alimentaires et nous proposons des mesures d’intervention et de prevention nutritionnelles.
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- 2020
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3. Anomalies cranio-encéphaliques
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Ph. Bourgeot, D. Parzy, J. Bigot, and S. Joriot
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business.industry ,Medicine ,business - Published
- 2021
- Full Text
- View/download PDF
4. La douleur chez l’enfant en situation de handicap neurologique : mise au point de la Commission « déficience intellectuelle et handicap » de la Société française de neurologie pédiatrique
- Author
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S Peudenier, J Avez-Couturier, D Juzeau, and S Joriot
- Subjects
education.field_of_study ,medicine.medical_specialty ,business.industry ,Analgesic ,Population ,Paradoxical reaction ,Context (language use) ,03 medical and health sciences ,0302 clinical medicine ,Mood ,030225 pediatrics ,Pediatrics, Perinatology and Child Health ,Neuropathic pain ,medicine ,Observational study ,education ,Psychiatry ,business ,030217 neurology & neurosurgery ,Medical literature - Abstract
Management of pain is one of the major expectations of children with neurological impairment and their families. The medical literature is poor on this topic accounting for approximately 0.15 % of the publications on pain in general. The objective of the French Pediatric Neurology Society was to review the current knowledge on this topic. Bibliographic research was conducted with PubMed and RefDoc for publications between 1994 and 2014 in French or English. A total of 925 articles were retrieved and 92 were selected for review. Pain is common in this population: a 2-week survey indicated that pain occurs in 50-75 % of children. Pain negatively impacts the quality of life of children and their parents. Children with neurological impairment express their pain with pain expression patterns and specific patterns common to children (change of tone, abnormal movements, spasticity, paradoxical reactions, such as laughter, self-injury or vasomotor dysfunction). Some children with neurological impairment are able to use self-report pain scales. If not, observational measures should be used. Behavioral rating scales specifically designed for this population are more sensitive than others. Scales must be selected according to children's communication skills, type of pain, and the context. Sometimes behavioral changes are the only expression of pain: any change in sleep, tone, feeding, or mood must suggest pain in this population. Management of pain remains difficult. There are no specific guidelines. Procedural pain management guidelines and the usual analgesic drugs can be used in children with neurological impairment with specific concerns regarding tolerance and side effects. These children are particularly at risk for neuropathic pain. A multidisciplinary approach is helpful, involving physicians, nurses, physiotherapists, psychologists and parents.
- Published
- 2018
- Full Text
- View/download PDF
5. Comment organiser la délibération collégiale pour limiter ou arrêter les traitements en pédiatrie ?
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Jean-Marie Cuisset, Robin Cremer, C. Minnaert, S. Joriot, Laurent Storme, S. Vandoolaeghe, A. Laffargue, D. Guimber, A. Matthews, K. Mention, Pierre Fayoux, D. Thomas, J. Le Cunff, and C. Lervat
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Withholding Treatment ,Patient care team ,Nursing ,Clinical decision making ,media_common.quotation_subject ,Pediatrics, Perinatology and Child Health ,MEDLINE ,16. Peace & justice ,Deliberation ,Psychology ,3. Good health ,media_common - Abstract
In 2005, the French law on patients' rights at the end of life required that decisions to withdraw or withhold life-sustaining treatments be made and carried out by the physician in charge of the patient, after obtaining advice from an independent consulting colleague and the caregiving team. The purpose of this study was to identify theoretical and practical obstacles to this collaborative deliberation and to propose practical guidelines to organize it.
- Published
- 2015
- Full Text
- View/download PDF
6. Syndrome catatonique précoce et encéphalite à auto-anticorps antirécepteurs-NMDA : une mise au point
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C. Meurisse, Louis Vallée, A. Trauffler, J L Goeb, A. Parenti, Jean-Marie Cuisset, G Kechid, P.A. Geoffroy, L. Hagneré, Renaud Jardri, S. Joriot, P Delion, and H. Nasser
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Psychiatry and Mental health ,Pediatrics, Perinatology and Child Health ,Developmental and Educational Psychology - Abstract
Resume L’encephalite auto-immune a anticorps antirecepteurs au N-Methyl-D-Aspartate (NMDA) est une atteinte grave du systeme nerveux central, encore peu connue des cliniciens, pouvant etre a l’origine de symptomes psychiatriques frustres comportant des symptomes psychotiques ou catatoniques. Nous rapportons ici le cas d’une jeune fille de 15 ans, sans antecedent personnel notable, hospitalisee pour decompensation psychotique de debut brutal, rapidement compliquee d’une catatonie agitee puis stuporeuse, repondant insuffisamment au traitement par benzodiazepines. Le diagnostic d’encephalite a anticorps anti-RNMDA a pu etre confirme par le dosage des auto-anticorps dans le liquide cephalorachidien (LCR). L’evolution sera favorable sous corticoides et immunosuppresseurs. Nous proposons a l’issue de ce cas, une mise au point sur l’encephalite a auto-anticorps anti-RNMDA et sur l’hypothese d’un desequilibre de la balance excitation/inhibition a l’origine de la catatonie.
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- 2015
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7. Dix questions pratiques concernant l’intoxication aiguë au monoxyde de carbone chez la femme enceinte
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S. Joriot, Pascal Vaast, Damien Subtil, Raphael Favory, E. Bothuyne-Queste, E. Closset, Véronique Houfflin-Debarge, Daniel Mathieu, and M. Mathieu-Nolf
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Gynecology ,medicine.medical_specialty ,Pediatrics ,Reproductive Medicine ,Injury control ,business.industry ,Accident prevention ,Obstetrics and Gynecology ,Medicine ,Poison control ,General Medicine ,business ,Fetal damage - Abstract
Resume Position du probleme L’intoxication au monoxyde de carbone (CO) est la premiere cause de deces par intoxication en France. Ses consequences sont potentiellement graves pour le fœtus. La litterature est ancienne et peu connue. But et methode Faire un etat des lieux des connaissances concernant l’intoxication au CO pendant la grossesse. Resultat Le CO entraine une hypoxie tissulaire maternelle puis fœtale, principalement par fixation a l’hemoglobine avec laquelle il a une grande affinite. Son passage transplacentaire peut entrainer des lesions fœtales, principalement au niveau cerebral. Leur gravite semble correlee a la symptomatologie maternelle lors de l’exposition. En l’absence de symptomes maternels en revanche, les donnees dont nous disposons sont rassurantes. L’oxygenotherapie hyperbare pourrait reduire les risques fœtaux. Discussion L’oxygenotherapie devrait pouvoir etre proposee dans tous les cas d’intoxication au CO, en particulier s’il existe des symptomes maternels lors de l’exposition. Par ailleurs, une echographie fœtale orientee sur le pole cephalique – voire une imagerie par resonance magnetique fœtale trois semaines apres une exposition – devrait egalement etre proposee.
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- 2014
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8. [Pain in children with neurological impairment: A review from the French Pediatric Neurology Society]
- Author
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J, Avez-Couturier, S, Joriot, S, Peudenier, and D, Juzeau
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Risk Factors ,Humans ,Pain ,Pain Management ,Nervous System Diseases ,Child ,Pain Measurement - Abstract
Management of pain is one of the major expectations of children with neurological impairment and their families. The medical literature is poor on this topic accounting for approximately 0.15 % of the publications on pain in general. The objective of the French Pediatric Neurology Society was to review the current knowledge on this topic. Bibliographic research was conducted with PubMed and RefDoc for publications between 1994 and 2014 in French or English. A total of 925 articles were retrieved and 92 were selected for review. Pain is common in this population: a 2-week survey indicated that pain occurs in 50-75 % of children. Pain negatively impacts the quality of life of children and their parents. Children with neurological impairment express their pain with pain expression patterns and specific patterns common to children (change of tone, abnormal movements, spasticity, paradoxical reactions, such as laughter, self-injury or vasomotor dysfunction). Some children with neurological impairment are able to use self-report pain scales. If not, observational measures should be used. Behavioral rating scales specifically designed for this population are more sensitive than others. Scales must be selected according to children's communication skills, type of pain, and the context. Sometimes behavioral changes are the only expression of pain: any change in sleep, tone, feeding, or mood must suggest pain in this population. Management of pain remains difficult. There are no specific guidelines. Procedural pain management guidelines and the usual analgesic drugs can be used in children with neurological impairment with specific concerns regarding tolerance and side effects. These children are particularly at risk for neuropathic pain. A multidisciplinary approach is helpful, involving physicians, nurses, physiotherapists, psychologists and parents.
- Published
- 2016
9. Analyse anténatale des sillons primaires en échographie et en IRM
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Louise Devisme, V. Debarge, J. Bigot, Damien Subtil, Ph Bourgeot, J. Quemener, and S. Joriot
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medicine.medical_specialty ,business.industry ,Medical screening ,Fetal ultrasonography ,Obstetrics and Gynecology ,Lateral sulcus ,General Medicine ,Anatomy ,Surgery ,Fetal brain ,Reproductive Medicine ,Antenatal screening ,medicine ,Ultrasonography ,business - Abstract
Gyration abnormalities often reflect severe neurological diseases. Their diagnosis is impeded by our limited knowledge about normal sulci anatomy throughout fetal brain development. Primary sulci appears in a specific chronology which is unchanged among all fetuses. We think it is interesting to remind of sulci anatomy and then to depict sulci MRI and ultrasonography appearance at 22, 27 and 32 weeks of gestation. We pay particular attention to the lateral sulcus, also called Sylvian fissure.
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- 2012
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- View/download PDF
10. Diastématomyélie: difficultés du diagnostic anténatal
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K. Hannebicque-Montaigne, Philippe Deruelle, S. Joriot, C. Chaffiotte, and M. Vinchon
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Gynecology ,Fetus ,medicine.medical_specialty ,Spinal dysraphism ,business.industry ,Prenatal diagnosis ,medicine.disease ,Central nervous system disease ,Spina bifida occulta ,Recien nacido ,medicine ,General Earth and Planetary Sciences ,Congenital disease ,business ,General Environmental Science ,Diastematomyelia - Abstract
La diastematomyelie est une malformation rachidienne rare caracterisee par la presence d’un eperon median fibreux ou osseux separant la moelle en deux hemimoelles. Nous rapportons le cas d’une diastematomyelie diagnostiquee a l’echographie antenatale morphologique. Le diagnostic a ete confirme par l’imagerie par resonance magnetique (IRM) postnatale, alors que l’IRM antenatale evoquait le diagnostic de myelolipome lombosacre. Le diagnostic antenatal repose sur des signes echographiques specifiques. Nous discutons de l’interet de l’IRM fœtale, faite en seconde intention, dans l’evaluation du diagnostic et du pronostic de cette malformation.
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- 2010
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11. Spécificités de la sclérose tubéreuse de Bourneville chez l’enfant
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Louis Vallée, S. Joriot, J.-C. Cuvellier, J.M. Cuisset, Audrey Riquet, and F. Petit
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Pediatrics ,medicine.medical_specialty ,business.industry ,food and beverages ,Prenatal diagnosis ,medicine.disease ,Asymptomatic ,Developmental disorder ,Tuberous sclerosis ,Epilepsy ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,medicine ,Autism ,TSC1 ,medicine.symptom ,TSC2 ,business - Abstract
Tuberous sclerosis complex is a genetic multisystem disease characterized by hamartic development of many organs, most notably the brain, heart, kidneys, lungs, and skin. This autosomic dominant disorder results from mutations in one of two genes, TSC1 and TSC2, coding for hamartin and tuberin, respectively. The hamartin-tuberin complex inhibits the mammalian target of rapamycin pathway, which controls cell growth and proliferation. The clinical presentation is highly variable and most features of tuberous sclerosis become evident only in childhood after the child is several years of age, limiting their usefulness for early diagnosis. The aim of this article is to define the pediatric clinical manifestations of tuberous sclerosis in correlation with patient age. Sometimes, a prenatal diagnosis can be made based on fetal ultrasound and MRI, which show cardiac and brain lesions. However, newborns are most often asymptomatic. In the 1st year, seizures are the most common symptoms, with a high incidence of infantile spasms. In children between 2 and 10 years of age, neurological symptoms are the most frequent with epilepsy, mental retardation, and autism, but extraneurological manifestations can be diagnosed. In adolescents, most features of tuberous sclerosis become evident and renal and pulmonary manifestations must be sought. The knowledge of age-dependent clinical features of tuberous sclerosis can provide an earlier diagnosis and improve the management of these patients with a special role for multidisciplinary consultation.
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- 2010
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12. Prise en charge médicale per- et postnatale de la hernie congénitale diaphragmatique
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S. Joriot, N. Norel, Antoine Deschildre, Laurent Storme, B. Soulignac, M. Bonnevalle, P Vaast, Philippe Deruelle, Pierre Fayoux, F. Gottrand, M. H. Depoortère, Caroline Thumerelle, T. Pennaforte, Alexandra Benachi, Rony Sfeir, V. Houfflin-Debarge, Thameur Rakza, Estelle Aubry, P. De Lagausie, and D. Guimber
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General Earth and Planetary Sciences ,General Environmental Science - Abstract
Malgre les progres de la reanimation, la mortalite neonatale des enfants porteurs de HCD reste elevee, proche de 30–40 %, essentiellement du fait de l’hypoplasie pulmonaire et d’une hypertension arterielle pulmonaire. Les principales sequelles observees sont respiratoires (HTAP chronique, dysplasie bronchopulmonaire, susceptibilite aux infections virales), digestives (reflux gastro-oesophagien, trouble de l’oralite), nutritionnelles (denutrition d’origine multifactorielle: RGO, trouble de l’oralite, insuffisance respiratoire) et orthopediques (scoliose). La prise en charge actuelle de ces complications est tardive: elle necessite une intervention plus precoce, qui doit debuter des la periode neonatale. Les objectifs de la prise en charge medicale seront: 1) d’assurer une oxygenation tissulaire et la decarboxylation tout en minimisant le baro-volotraumatisme du poumon; 2) d’assurer une fonction circulatoire adequate en limitant les consequences de l’HTAP; 3) de prevenir la morbidite respiratoire et digestive. Elle necessite imperativement un suivi et une prise en charge multidisciplinaire specialisee, du fait de l’intrication de ces differentes complications.
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- 2009
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13. Comment organiser la délibération collégiale pour limiter ou arrêter les traitements en pédiatrie ?
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R, Cremer, C, Lervat, A, Laffargue, J, Le Cunff, S, Joriot, C, Minnaert, J-M, Cuisset, K, Mention, D, Thomas, D, Guimber, A, Matthews, P, Fayoux, L, Storme, S, Vandoolaeghe, Sylvie, Vandoolaeghe, Réanimation pédiatrique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Espace de réflexion éthique régional, Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université Lille Nord de France (COMUE)-UNICANCER, Equipe ressource régionale en soins palliatifs pédiatriques, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Anéshtésie pédiatrique, Neurologie pédiatrique, Centre de référence des maladies héréditaires du métabolisme, Maternité Jeanne de Flandre, Gastroentérologie hépatologie et nutrition, Pédiatrie sociale, ORL pédiatrique, Réanimation néonatale, Espace éthique hospitalier et universitaire de Lille (EEHU de Lille), Groupe de travail de L’EEHU de Lille, and Université de Lille-UNICANCER
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Patient Care Team ,[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics ,Withholding Treatment ,Professional-Family Relations ,Clinical Decision-Making ,Humans ,France ,Child ,Pediatrics ,[SDV.ETH]Life Sciences [q-bio]/Ethics - Abstract
International audience; In 2005, the French law on patients’ rights at the end of life required that decisions to withdraw or withhold life-sustaining treatments be made and carried out by the physician in charge of the patient, after obtaining advice from an independent consulting colleague and the caregiving team. The purpose of this study was to identify theoretical and practical obstacles to this collaborative deliberation and to propose practical guidelines to organize it.; La loi du 22 avril 2005 relative aux droits des malades et à la fin de vie, dite « loi Leonetti », a instauré l’obligation d’une délibération collégiale avant les décisions de limitation ou d’arrêt des traitements (LAT) pour les patients hors d’état d’exprimer leur volonté. Les modalités de cette collégialité ont été précisées par le décret du 6 février 2006 qui impose au médecin en charge du patient de prendre l’avis d’un confrère appelé à titre de consultant avant toute décision de LAT et de consulter l’équipe soignante. L’objectif de cette étude était de repérer les obstacles théoriques et pratiques à l’exercice de la collégialité et de proposer des éléments d’organisation pour les contourner.
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- 2015
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14. Approche neuropédiatrique de l'autisme
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S. Joriot, Louis Vallée, P. Delion, F. Medjkane, Stéphane Auvin, O. Gozé, Jean-Marie Cuisset, and A. Salloum
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Neurocutaneous Syndromes ,business.industry ,Genetic counseling ,Encephalopathy ,medicine.disease ,Developmental disorder ,Fragile X syndrome ,mental disorders ,Pediatrics, Perinatology and Child Health ,Etiology ,medicine ,Autism ,Medical history ,business ,Clinical psychology - Abstract
Autism is defined by 3 main criteria: disturbance of reciprocal social interaction, disturbance of communication (including language comprehension and spoken language) and disturbance of normal variation in behaviour and imaginative activities; an onset before age 36 months is also required. The neuropediatric contribution to autism is dominated by the search for an underlying organic etiology, especially if there are arguments for an associated encephalopathy: ante- or perinatal medical history, dysmorphic signs, skin spots, neurological abnormalities, somatic abnormalities compatible with a neurometabolic disorder. The main associated conditions with autism are: chromosome anomalies, monogenic syndrome (including fragile X syndrome), neurocutaneous syndromes, epileptic encephalopathies, neurometabolic diseases, and dystrophinopathies. The identification of an associated medical condition to autism is primordial in prospect of genetic counselling, and by the change induced in familial perception of autism.
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- 2005
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15. Traitement médicamenteux de l’accès migraineux chez l’enfant
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L. Vallée, Stéphane Auvin, Jean-Christophe Cuvellier, and S. Joriot
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Chemotherapy ,medicine.medical_specialty ,business.industry ,Vascular disease ,medicine.medical_treatment ,Dihydroergotamine Mesylate ,Triptans ,medicine.disease ,Ibuprofen ,Surgery ,Migraine ,Anesthesia ,Pediatrics, Perinatology and Child Health ,medicine ,Nasal administration ,Adverse effect ,business ,medicine.drug - Abstract
Migraine, according to the criteria of the International Headache Society, occurs in about 5 to 10% of children. Management of acute headache is only one of the parts of the treatment, along with identification of migraine precipitants, adjustments in lifestyle, and when necessary the use of preventive therapy, which can include non pharmacologic (relaxation or biofeedback) or pharmacologic treatment. In the acute migraine attack, a single dose of either ibuprofen 10 mg/kg or paracetamol 15 mg/kg has been shown to be effective, with only a few adverse effects. In severe migraine attacks, dihydroergotamine mesylate administered orally (20 to 40 microg/kg) or intravenously (maximum 1 mg/day) may be helpful, but there have been no large placebo-controlled trials of this treatment. Among the different triptans, it is the sumatriptan nasal spray whose efficacy has been best demonstrated. The most frequent adverse event is transitory unpleasant taste.
- Published
- 2005
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16. Traitement de fond de la migraine de l’enfant : état des connaissances du traitement pharmacologique
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Jean-Christophe Cuvellier, S. Joriot, Louis Vallée, and Stéphane Auvin
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medicine.medical_specialty ,Pediatrics ,business.industry ,medicine.medical_treatment ,Propranolol ,Pizotifen ,Biofeedback ,medicine.disease ,Surgery ,Clonidine ,Migraine ,Pediatrics, Perinatology and Child Health ,medicine ,Amitriptyline ,Adverse effect ,business ,Flunarizine ,medicine.drug - Abstract
Migraine, according to the criteria of the International Headache Society, occurs in about 5-10% of children. Preventive therapy includes identification of migraine precipitants, possible adjustments in lifestyle, appropriate management of acute headache, and when necessary the use of pharmacologic agents. It should be started if migraine attacks are severe or frequent. Non-pharmacologic prophylactic treatment is the modality of choice, based on relaxation or biofeedback. Despite its high incidence, only a few controlled trials have investigated the prophylactic treatment of migraine in children. Only flunarizine (5 mg/day) has been shown to be effective in two double-blind, placebo-controlled trials. Some evidence also exists that propranolol (60 mg/day) and pizotifen (0.5-1.5 mg/day) are effective. For all other drugs studied in migraine prophylaxis, the results remain vague (e.g. amitriptyline), or suggest inefficacy (e.g. clonidine, tryptophane). Most of the drugs used in the treatment of migraine in children are well tolerated. The most common adverse effects are drowsiness and bodyweight gain.
- Published
- 2004
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17. Érythropoïétine humaine recombinante : analyse d’une politique de prescription dans une population hospitalière de nouveau-nés de faible poids de naissance
- Author
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Thameur Rakza, P Lequien, Laurent Storme, S Joriot-Chekaf, V. Pierrat, and L Desnoulez
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Gynecology ,medicine.medical_specialty ,business.industry ,Recien nacido ,Pediatrics, Perinatology and Child Health ,medicine ,business ,Recombinant erythropoietin - Abstract
Resume Buts de l’etude. – Evaluation d’une politique de prescription de l’erythropoietine (EPO) et description des nouveau-nes traites a risque de transfusion de globules rouges (TGR). Type d’etude. – Etude prospective, descriptive. Population et methodes. – Cent soixante-cinq nouveau-nes d’âge gestationnel (AG) inferieur a 30 semaines et/ou de poids de naissance inferieur a 1000 g hospitalises de mai 1998 a octobre 1999. Quatre-vingt-dix exclus (malformations congenitales n = 6, deces n = 16, enfants transferes avant le retour au domicile n = 67, oxygenation membranaire extracorporelle n = 1). Les donnees concernant les caracteristiques de la population, la severite de la pathologie neonatale, le taux d’hemoglobine a la naissance, les facteurs de depletion sanguine, le traitement par EPO, le nombre de TGR et de donneurs etaient analysees. Resultats. – Trente-huit des soixante-quinze (51 %) enfants traites ont ete transfuses. Ils ont recu 112 TGR, dont 88 tardives, au-dela de J15. Dans la majorite des cas (n = 68), ces transfusions tardives ont ete prescrites dans le cadre du protocole utilise. Vingt fois (23 %) elles ont ete realisees au decours d’une septicemie nosocomiale. Le nombre de donneurs par enfant etait de 2,3 ± 1,6 [1] , [2] , [3] , [4] , [5] , [6] , [7] . La prescription d’EPO etait comparable dans les groupes d’enfants non transfuses (groupe I) et transfuses (groupe II) : introduction precoce de l’erythropoietine a 3 ± 2 j dans les deux groupes, nombre d’injections (17 ± 4 vs 18 ± 1, ns). L’introduction du fer etait tardive (12 j ± 8 vs 19 j ± 10, ns). Le groupe II avait un poids de naissance plus faible (850 ± 240 vs 1050 ± 160 g, p Conclusion. – Dans cette population, la qualite de prescription de la supplementation martiale, des TGR et le respect du protocole de donneur unique sont susceptibles d’etre ameliores. Les nouveau-nes d’AG inferieur a 30 semaines et/ou de poids de naissance inferieur a 1000 g traites precocement par EPO et transfuses sont plus hypotrophes et plus malades. L’identification precoce de cette population pourrait permettre d’ameliorer les strategies preventives et l’efficacite du traitement.
- Published
- 2003
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18. Auteurs
- Author
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Y. Ardaens, G. Benoist, J. Bigot, P. Bourgeot, M. Brasseur-Daudruy, C. Coulon, V. Debarge, B. Guérin du Masgenêt, S. Joriot, M. Kohler, A. Richard, Y. Robert, D. Subtil, P. Vaast, G. Vaksmann, D. Vandendriessche, O. Acker, B. Bailleux, J.-M. Bourgeois, C. Chatelet-Cheron, P. Coquel, M. Delcroix, D. Ellart, D. Eurin, R. Favre, E. Feldmann-Desrousseaux, D. Houzé de l'Aulnoit, D. Parzy, and A.S. Valat
- Published
- 2014
- Full Text
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19. Cas radiologique du mois. Des signes neurologiques multifocaux chez un garçon de 14 ans
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G. Soto-Ares, N. Guillot, M. Vinchon, Stéphane Auvin, Jean-Christophe Cuvellier, S. Joriot, and L. Vallée
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business.industry ,Pediatrics, Perinatology and Child Health ,Medicine ,business - Published
- 2005
- Full Text
- View/download PDF
20. [Ten practical issues concerning acute poisoning with carbon monoxide in pregnant women]
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E, Bothuyne-Queste, S, Joriot, D, Mathieu, M, Mathieu-Nolf, R, Favory, V, Houfflin-Debarge, P, Vaast, E, Closset, and D, Subtil
- Subjects
Pregnancy Complications ,Carbon Monoxide Poisoning ,Fetal Diseases ,Hyperbaric Oxygenation ,Carboxyhemoglobin ,Pregnancy ,Humans ,Female ,France ,Magnetic Resonance Imaging ,Ultrasonography, Prenatal - Abstract
The poisoning of carbon monoxide (CO) is the leading cause of death by poisoning in France. Its consequences are potentially serious to the fetus. Literature is ancient and little known.Make an inventory of knowledge about carbon monoxide poisoning during pregnancy.The CO causes maternal then fetal tissue hypoxia primarily by binding to hemoglobin with which it has a high affinity. Its transplacental passage may cause fetal harm, predominantly in the brain. Severity seems correlated with maternal symptoms during exposure. In the absence of maternal symptoms, however, the available data are reassuring. Hyperbaric oxygen therapy may reduce the risk to the fetus.Oxygen therapy should be offered in all cases of CO poisoning, especially if there are maternal symptoms during exposure. In addition, a fetal echography directed on the cephalic pole - even a fetal magnetic resonance imaging three weeks after exposure - should also be proposed.
- Published
- 2012
21. [Prenatal analysis of primary sulci by ultrasonography and MRI]
- Author
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J, Quemener, J, Bigot, S, Joriot, L, Devisme, P, Bourgeot, V, Debarge, and D, Subtil
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Cerebral Cortex ,Fetal Development ,Pregnancy ,Humans ,Female ,Gestational Age ,Magnetic Resonance Imaging ,Ultrasonography, Prenatal - Abstract
Gyration abnormalities often reflect severe neurological diseases. Their diagnosis is impeded by our limited knowledge about normal sulci anatomy throughout fetal brain development. Primary sulci appears in a specific chronology which is unchanged among all fetuses. We think it is interesting to remind of sulci anatomy and then to depict sulci MRI and ultrasonography appearance at 22, 27 and 32 weeks of gestation. We pay particular attention to the lateral sulcus, also called Sylvian fissure.
- Published
- 2012
22. [The consulting physician for withdrawal of life-sustaining treatments in children]
- Author
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R, Cremer, P, Fayoux, D, Guimber, S, Joriot, A, Laffargue, C, Lervat, A, Matthews, K, Mention, R, Sfeir, L, Storme, D, Thomas, C, Thumerelle, and S, Vandoolaeghe
- Subjects
Parents ,Consultants ,Withholding Treatment ,Humans ,France ,Child ,Physician's Role ,Pediatrics - Abstract
In 2005, the French law on patients' rights at the end of life ratified that decisions to withdraw or withhold life-sustaining treatments must be made and carried out by the physician in charge of the patient, after obtaining the advice of an independent consulting colleague. The purpose of this text is to put forward the perspective of a pediatric multidisciplinary workshop regarding the role of the consulting physician and to propose guidelines to help choose this consultant.
- Published
- 2012
23. The consulting physician for withdrawal of life-sustaining treatments in children
- Author
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Rony Sfeir, S. Vandoolaeghe, Laurent Storme, C. Lervat, le groupe de travail de l’EEHU de Lille, Pierre Fayoux, D. Thomas, Caroline Thumerelle, A. Matthews, Robin Cremer, S. Joriot, K. Mention, A. Laffargue, D. Guimber, Cremer, Robin, Réanimation pédiatrique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Jeanne de Flandre [Lille], Espace éthique hospitalier et universitaire de Lille (EEHU de Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Neuro-pédiatrie[Lille], Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université de Lille-UNICANCER, Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Jeanne de Flandres-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Inflammation: mécanismes et régulation et interactions avec la nutrition et les candidoses, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Environnement périnatal et croissance - EA 4489 (EPS), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), and Service de pneumologie pédiatrique
- Subjects
Pediatrics ,medicine.medical_specialty ,[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics ,Withholding Treatment ,business.industry ,MEDLINE ,16. Peace & justice ,[SDV.ETH] Life Sciences [q-bio]/Ethics ,3. Good health ,[SDV.ETH]Life Sciences [q-bio]/Ethics ,03 medical and health sciences ,0302 clinical medicine ,[SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics ,Nursing ,Multidisciplinary approach ,030225 pediatrics ,Consulting Physician ,Pediatrics, Perinatology and Child Health ,medicine ,030212 general & internal medicine ,business - Abstract
In 2005, the French law on patients’ rights at the end of life ratified that decisions to withdraw or withhold life-sustaining treatments must be made and carried out by the physician in charge of the patient, after obtaining the advice of an independent consulting colleague. The purpose of this text is to put forward the perspective of a pediatric multidisciplinary workshop regarding the role of the consulting physician and to propose guidelines to help choose this consultant., La loi du 22 avril 2005 relative aux droits des malades et à la fin de vie (dite « loi Leonetti ») a donné un cadre légal aux décisions de limitation et d’arrêt de traitement (LAT) et a instauré l’obligation d’une délibération collégiale pour les patients hors d’état d’exprimer leur volonté. Les modalités de cette collégialité ont été précisées par le décret du 6 février 2006 qui impose au médecin en charge du patient de prendre l’avis motivé d’un consultant avant toute décision de LAT. Ces dispositions qui ont été intégrées dans l’article 37 du Code de déontologie médicale, nécessitent leur appropriation dans des disciplines dont la culture et la temporalité sont très différentes. En pédiatrie, l’application de cette loi doit tenir compte du rôle des parents puisque, sur le plan légal, l’enfant est représenté par ses parents, qu’il soit ou non en état d’exprimer sa volonté. L’objectif de ce texte est de définir les situations requérant la présence d’un consultant au sens de la loi Leonetti en pédiatrie, de préciser son positionnement et son rôle, et de proposer des éléments d’orientation pour en guider le choix en pratique.
- Published
- 2012
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24. [Characteristics of tuberous sclerosis in children]
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A, Riquet, J-M, Cuisset, J-C, Cuvellier, S, Joriot, F, Petit, and L, Vallée
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Epilepsy ,Adolescent ,Tumor Suppressor Proteins ,Infant, Newborn ,Infant ,Tuberous Sclerosis Complex 1 Protein ,Ultrasonography, Prenatal ,Early Diagnosis ,Seizures ,Tuberous Sclerosis ,Child, Preschool ,Intellectual Disability ,Mutation ,Tuberous Sclerosis Complex 2 Protein ,Humans ,Autistic Disorder ,Child ,Spasms, Infantile ,Algorithms - Abstract
Tuberous sclerosis complex is a genetic multisystem disease characterized by hamartic development of many organs, most notably the brain, heart, kidneys, lungs, and skin. This autosomic dominant disorder results from mutations in one of two genes, TSC1 and TSC2, coding for hamartin and tuberin, respectively. The hamartin-tuberin complex inhibits the mammalian target of rapamycin pathway, which controls cell growth and proliferation. The clinical presentation is highly variable and most features of tuberous sclerosis become evident only in childhood after the child is several years of age, limiting their usefulness for early diagnosis. The aim of this article is to define the pediatric clinical manifestations of tuberous sclerosis in correlation with patient age. Sometimes, a prenatal diagnosis can be made based on fetal ultrasound and MRI, which show cardiac and brain lesions. However, newborns are most often asymptomatic. In the 1st year, seizures are the most common symptoms, with a high incidence of infantile spasms. In children between 2 and 10 years of age, neurological symptoms are the most frequent with epilepsy, mental retardation, and autism, but extraneurological manifestations can be diagnosed. In adolescents, most features of tuberous sclerosis become evident and renal and pulmonary manifestations must be sought. The knowledge of age-dependent clinical features of tuberous sclerosis can provide an earlier diagnosis and improve the management of these patients with a special role for multidisciplinary consultation.
- Published
- 2010
25. [Radiological quiz of the month. Multiple neurological symptoms in a 14-year-old child]
- Author
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N, Guillot, S, Auvin, M, Vinchon, S, Joriot, G, Soto-Ares, J C, Cuvellier, and L, Vallée
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Diagnosis, Differential ,Male ,Radiography ,Adolescent ,Vomiting ,Carcinoma ,Meningeal Neoplasms ,Vertigo ,Humans ,Magnetic Resonance Imaging - Published
- 2005
26. [Neuropediatric approach to autism]
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J-M, Cuisset, S, Joriot, S, Auvin, O, Gozé, F, Medjkane, A, Salloum, P, Delion, and L, Vallée
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Chromosome Aberrations ,Diagnosis, Differential ,Neurology ,Risk Factors ,Humans ,Genetic Counseling ,Family Relations ,Autistic Disorder ,Child ,Magnetic Resonance Imaging ,Pediatrics - Abstract
Autism is defined by 3 main criteria: disturbance of reciprocal social interaction, disturbance of communication (including language comprehension and spoken language) and disturbance of normal variation in behaviour and imaginative activities; an onset before age 36 months is also required. The neuropediatric contribution to autism is dominated by the search for an underlying organic etiology, especially if there are arguments for an associated encephalopathy: ante- or perinatal medical history, dysmorphic signs, skin spots, neurological abnormalities, somatic abnormalities compatible with a neurometabolic disorder. The main associated conditions with autism are: chromosome anomalies, monogenic syndrome (including fragile X syndrome), neurocutaneous syndromes, epileptic encephalopathies, neurometabolic diseases, and dystrophinopathies. The identification of an associated medical condition to autism is primordial in prospect of genetic counselling, and by the change induced in familial perception of autism.
- Published
- 2005
27. [Pharmacologic treatment of acute migraine attack in children]
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J C, Cuvellier, S, Joriot, S, Auvin, and L, Vallée
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Adolescent ,Sumatriptan ,Migraine Disorders ,Age Factors ,Administration, Oral ,Biofeedback, Psychology ,Ibuprofen ,Analgesics, Non-Narcotic ,Relaxation Therapy ,Serotonin Receptor Agonists ,Acute Disease ,Injections, Intravenous ,Humans ,Vasoconstrictor Agents ,Child ,Life Style ,Administration, Intranasal ,Dihydroergotamine ,Acetaminophen - Abstract
Migraine, according to the criteria of the International Headache Society, occurs in about 5 to 10% of children. Management of acute headache is only one of the parts of the treatment, along with identification of migraine precipitants, adjustments in lifestyle, and when necessary the use of preventive therapy, which can include non pharmacologic (relaxation or biofeedback) or pharmacologic treatment. In the acute migraine attack, a single dose of either ibuprofen 10 mg/kg or paracetamol 15 mg/kg has been shown to be effective, with only a few adverse effects. In severe migraine attacks, dihydroergotamine mesylate administered orally (20 to 40 microg/kg) or intravenously (maximum 1 mg/day) may be helpful, but there have been no large placebo-controlled trials of this treatment. Among the different triptans, it is the sumatriptan nasal spray whose efficacy has been best demonstrated. The most frequent adverse event is transitory unpleasant taste.
- Published
- 2004
28. 'Familial alternating hemiplegia of childhood or channelopathy? A report with valuable pathophysiological implications' (multiple letters) [1]
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Auvin, S. Joriot-Chekaf, S. Cuvellier, J.-C. Vallée, L. Kanavakis, E. Xaidara, A. Papathanasiou-Klontza, D. Papadimitriou, A. Velentza, S. Youroukos, S.
- Published
- 2004
29. [Recombinant human erythropoietin: analysis of a policy of treatment in an hospital based population of very-low-birthweight infants]
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S, Joriot-Chekaf, V, Pierrat, L, Desnoulez, T, Rakza, P, Lequien, and L, Storme
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Male ,Health Policy ,Iron ,Infant Welfare ,Infant, Newborn ,Gestational Age ,Hospitals ,Recombinant Proteins ,Hematocrit ,Risk Factors ,Health Care Surveys ,Practice Guidelines as Topic ,Humans ,Infant, Very Low Birth Weight ,Female ,Prospective Studies ,Erythrocyte Transfusion ,Erythropoietin - Abstract
To evaluate a policy of treatment with human recombinant erythropoietin (rhEPO) and to describe factors related to red blood cell transfusions (RBCTs) in treated neonates.Prospective, observative study.One-hundred and sixty-five neonates with gestational age (GA)30 weeks and/or birthweight1000g admitted between may 1998 and october 1999. Ninety were excluded (congenital malformations n = 6, deaths n = 16, referral to a general hospital before discharge n = 67, ECMO n = 1). Data about the characteristics of the population, the severity of the neonatal period, hemoglobin at birth, blood loses, treatment with rhEPO, number of red blood cells transfusions (RBCTs) and donors were recorded in all infants.Thirty-eight in seventy-five (51%) neonates received 112 blood transfusions. Eighty-eight were prescribed after day 15. In most of the cases (n = 68), RBCTs were done according to the protocol. In 20 cases (23%) infants were transfused during a late-onset infection. No difference was observed between the non-transfused (group I) and the transfused neonates (group II) with regards to the drug administration: first dose on day 3 +/- 2, number of injections (17 +/- 4 vs 18 +/- 1, ns). The start of oral supplementation with iron was late (12j +/- 8 vs 19j +/- 10, ns). Infants in group II had a lower birthweight (850 +/- 240 vs 1050 +/- 160 g, p0,01) for a similar GA (28 +/- 1SA vs 28 +/- 2SA, ns) in association with an increased number of small for date babies (p = 0.03). Antenatal steroïds administration (89 vs 74%, ns), administration of surfactant (59 vs 81%, ns) were similar in the two groups. The Clinical Risk Index for Babies was higher in group II: 5 +/- 3 vs 2 +/- 1 (p0,001) as was the duration of oxygen delivery (53 +/- 44 vs 14 +/- 20 days, p0,01) and postnatal administration of corticosteroïds ( 38% vs 3%, p0.01).The quality of iron administration, RBCTs and the limitation of donors could be improved in our population. Transfusions among neonates born before 30 weeks and/or with a birthweight of less than 1000 g and treated with rhEPO are associated with intrauterine malnutrition and a worse clinical condition on admission. Early identification of at risk neonates could improve prevention of RBCTs and the efficacy of rhEPO administration to preterm infants.
- Published
- 2003
30. [Drug treatment of migraine in children: state of the art]
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J-C, Cuvellier, S, Joriot, S, Auvin, and L, Vallée
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Child, Preschool ,Migraine Disorders ,Humans ,Biofeedback, Psychology ,Relaxation Therapy ,Child ,Life Style ,Randomized Controlled Trials as Topic - Abstract
Migraine, according to the criteria of the International Headache Society, occurs in about 5-10% of children. Preventive therapy includes identification of migraine precipitants, possible adjustments in lifestyle, appropriate management of acute headache, and when necessary the use of pharmacologic agents. It should be started if migraine attacks are severe or frequent. Non-pharmacologic prophylactic treatment is the modality of choice, based on relaxation or biofeedback. Despite its high incidence, only a few controlled trials have investigated the prophylactic treatment of migraine in children. Only flunarizine (5 mg/day) has been shown to be effective in two double-blind, placebo-controlled trials. Some evidence also exists that propranolol (60 mg/day) and pizotifen (0.5-1.5 mg/day) are effective. For all other drugs studied in migraine prophylaxis, the results remain vague (e.g. amitriptyline), or suggest inefficacy (e.g. clonidine, tryptophane). Most of the drugs used in the treatment of migraine in children are well tolerated. The most common adverse effects are drowsiness and bodyweight gain.
- Published
- 2003
31. A GPHN point mutation leading to molybdenum cofactor deficiency
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U Lenz, S Joriot-Chekaf, K Mention-Mulliez, J Reiss, C Aquaviva-Bourdain, and M Holder-Espinasse
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0303 health sciences ,Metal metabolism ,Chemistry ,Point mutation ,Sequence alignment ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,Biochemistry ,Genetics ,medicine ,Peptide sequence ,Molybdenum cofactor deficiency ,030217 neurology & neurosurgery ,Genetics (clinical) ,030304 developmental biology - Published
- 2011
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32. RP-WS-5 Les formations kystiques peri-ventriculaires : aspect en IRM cerebrale fœtale a propos de vingt cas
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P. Vaast, L. Devisme, C. Marmin, G. Soto-Ares, S. Joriot-Chekaf, and C. Chaffiotte
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Radiological and Ultrasound Technology ,Radiology, Nuclear Medicine and imaging - Abstract
Objectifs Caracteriser en IRM cerebrale fœtale les formations kystiques peri-ventriculaires et aborder leur pronostic. Materiels et methodes Analyse retrospective des IRM de vingt fœtus montrant deux types de lesions : pseudo-kystes sous-ependymaires (PKSE) au niveau des sillons thalamo-caudes et kystes des cornes frontales (KCF) au niveau des angles supero-externes des cornes frontales. Confrontation avec les donnees du suivi de grossesse puis de l’enfant. Resultats Huit fœtus presentaient des KCF, huit des PKSE et quatre une association des deux. Les PKSE etaient sensiblement plus petits que les KCF. Ils etaient toujours unilobes, les KCF parfois plurilobes. Quasiment toutes les lesions etaient ovalaires, de contours reguliers et toujours cernees par un parenchyme de signal normal. D’autres anomalies, cerebrales ou non, s’associaient toujours aux PKSE et dans six cas aux KCF. Le developpement neurologique des enfants semblait meilleur en cas de KCF. Conclusion Hormis leur localisation, quelques elements morphologiques distinguent PKSE et KCF mais sans presumer d’une etiologie. Les PKSE ne sont jamais isoles dans notre serie et leur pronostic semble mauvais mais pas toujours. Les KCF, en general consideres en post-natal comme une variante de la normale, semblent rarement isoles.
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- 2008
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33. M.P.3.07 Clinical presentations of mitochondrial respiratory chain disorders in children: Usefulness of a diagnosis score
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A. Moerman, Stéphane Auvin, G. Briand, Jean-Marie Cuisset, L. Vallée, J.C. Cuvellier, S. Joriot, and Claude-Alain Maurage
- Subjects
medicine.medical_specialty ,Mitochondrial respiratory chain ,Neurology ,business.industry ,Internal medicine ,Pediatrics, Perinatology and Child Health ,Medicine ,Neurology (clinical) ,business ,Genetics (clinical) - Published
- 2007
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34. Agénésie familiale isolée du corps calleux
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Y. Robert, Francis Puech, S. Joriot, B. Bailleux, Ph Bourgeot, S. Lemoine, M.F. Bastos, S. Depret, and O Boute
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Reproductive Medicine ,Obstetrics and Gynecology ,General Medicine - Published
- 2005
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35. Syndrome en miroir régressif mais compliqué après anasarque foeto placentaire à parvovirus B19
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S. Joriot, Pierre Collinet, C. Brochot, Damien Subtil, and N. Helou
- Subjects
Reproductive Medicine ,Obstetrics and Gynecology ,General Medicine - Abstract
Journal de Gynecologie Obstetrique et Biologie de la Reproduction - Vol. 34 - N° 2 - p. 199
- Published
- 2005
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36. Connaissances medicales des parents: impact sur le recours a une unite d'accueil des urgences pediatriques et comparaison aux donnees anglaises
- Author
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Valérie Hue, Alain Martinot, S. Joriot, A. Dorkenoo, Francis Leclerc, C. Roustit, and P. Lestavel
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Pediatrics, Perinatology and Child Health - Published
- 1999
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37. Differentiating Genetic Forms of Pontocerebellar Hypoplasia From Acquired Lesions Resembling Pontocerebellar Hypoplasia: Clinical, Neurodevelopmental, and Imaging Insight From 19 Extremely Premature Patients.
- Author
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Riquet A, Quesque F, Charkaluk ML, Desnoulez L, Neut D, Joriot S, Goze O, Soto Ares G, and Yacoub W
- Subjects
- Child, Humans, Magnetic Resonance Imaging, Cerebellum diagnostic imaging, Cerebellum pathology, Olivopontocerebellar Atrophies diagnostic imaging, Olivopontocerebellar Atrophies genetics, Cerebellar Diseases diagnostic imaging, Cerebellar Diseases genetics
- Abstract
It is well established that extreme prematurity can be associated with cerebellar lesions potentially affecting the neurologic prognosis. One of the commonly observed lesions in these cases is pontocerebellar hypoplasia resulting from prematurity, which can pose challenges in distinguishing it from genetically caused pontocerebellar hypoplasia. This confusion leads to unacceptable and prolonged diagnostic ambiguity for families as well as difficulties in genetic counseling. Therefore, it is crucial to identify the clinical and neuroradiologic features allowing to differentiate between acquired and genetic forms of pontocerebellar hypoplasia in order to guide clinical practices and improve patient care. In this regard, we report in the present manuscript the clinical, developmental, and radiologic characteristics of 19 very premature children (gestational age <28 weeks, now aged 3-14 years) with cerebellar lesions and discuss the causal mechanisms. Our findings support the notion that a combination of specific clinical and radiologic criteria is essential in distinguishing between acquired and genetic forms of pontocerebellar hypoplasia., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
- Published
- 2023
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38. Use of EEG in neonatal hypoxic-ischemic encephalopathy: A French survey of current practice and perspective for improving health care.
- Author
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Chaton L, Bourel-Ponchel E, Lamblin MD, Joriot S, Lacan L, Derambure P, Nguyen S, and Flamein F
- Subjects
- Child, Humans, Infant, Newborn, Intensive Care Units, Neonatal, Electroencephalography, Delivery of Health Care, Hypoxia-Ischemia, Brain diagnosis, Hypoxia-Ischemia, Brain therapy, Hypothermia, Induced
- Abstract
Objectives: Controlled therapeutic hypothermia (CTH) is a standard of care in the management of neonatal hypoxic-ischemic encephalopathy HIE in newborns after 36 weeks of gestational age (WGA) in France. The electroencephalogram (EEG) plays a major role in HIE diagnosis and follow-up. We conducted a French national survey on the current use of EEG in newborn undergoing CTH., Methods: Between July and October 2021, an email survey was sent to the heads of the Neonatal intensive care units (NICUs) in metropolitan and overseas French departments and territories., Results: Out of 67, 56 (83%) of NICUs responded. All of them performed CTH in children born after 36 WGA with clinical and biological criteria of moderate to severe HIE. 82% of the NICUs used conventional EEG (cEEG) before 6 h of life (H6), prior to CTH being performed, to inform decisions about its use. However, half of the 56 NICUs had limited access after regular working hours. 51 of the 56 centers (91%) used cEEG, either short-lasting or continuous monitoring during cooling, while 5 centers conducted only amplitude EEG (aEEG). Only 4 of 56 centers (7%) used cEEG systematically both prior to CTH and for continuous monitoring under CTH., Discussion: The use of cEEG in the management of neonatal HIE was widespread in NICUs, but with significant disparities when considering 24-hour access. The introduction of a centralized neurophysiological on-call system grouping several NICUs would be of major interest for most centers which do not have the facility of EEG outside working hours., Competing Interests: Declaration of Competing Interest None., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)
- Published
- 2023
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39. Recanalization Treatments for Pediatric Acute Ischemic Stroke in France.
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Kossorotoff M, Kerleroux B, Boulouis G, Husson B, Tran Dong K, Eugene F, Damaj L, Ozanne A, Bellesme C, Rolland A, Bourcier R, Triquenot-Bagan A, Marnat G, Neau JP, Joriot S, Perez A, Guillen M, Perivier M, Audic F, Hak JF, Denier C, and Naggara O
- Subjects
- Adult, Cerebral Hemorrhage, Child, Cohort Studies, Humans, Infant, Newborn, Male, Retrospective Studies, United States, Brain Ischemia complications, Endovascular Procedures methods, Ischemic Stroke, Stroke epidemiology, Stroke therapy
- Abstract
Importance: There is to date limited evidence that revascularization strategies are associated with improved functional outcome in children with acute ischemic stroke (AIS)., Objectives: To report clinical outcomes and provide estimates of revascularization strategy safety and efficacy profiles of intravenous thrombolysis (IVT) and/or endovascular treatment (EVT) in children with AIS., Design, Setting, and Participants: The KidClot multicenter nationwide cohort study retrospectively collected data of children (neonates excluded) with AIS and recanalization treatment between January 1, 2015, and May 31, 2018. Data analysis was performed from January 1, 2015, to May 31, 2019., Exposure: IVT and/or EVT., Main Outcomes and Measures: Primary outcome was day 90 favorable outcome (modified Rankin Scale [mRs] 0-2, with 0 indicating no symptoms and 6 indicating death). Secondary end points included 1-year favorable outcome (mRs, 0-2), mortality, and symptomatic intracerebral hemorrhage. Other measures included the Pediatric National Institutes of Health Stroke Scale (pedNIHSS), with pedNIHSS 0 indicating no symptoms, 1 to 4 corresponding to a minor stroke, 5 to 15 corresponding to a mild stroke, greater than 15 to 20: severe stroke, and the adult Alberta Stroke Program Early CT Score (ASPECTS), which provides segmental assessment of the vascular territory, with 1 point deducted from the initial score of 10 for every region involved (from 10 [no lesion] to 0 [maximum lesions])., Results: Overall, 68 children were included in 30 centers (IVT [n = 44]; EVT [n = 40]; 44 boys [64.7%]; median [IQR] age, 11 [4-16] years; anterior circulation involvement, 57 [83.8%]). Median (IQR) pedNIHSS score at admission was 13 (7-19), higher in the EVT group at 16 (IQR, 10-20) vs 9 (6-17) in the IVT only group (P < .01). Median time from stroke onset to imaging was higher in the EVT group at 3 hours and 7 minutes (IQR, 2 hours and 3 minutes to 6 hours and 24 minutes) vs 2 hours and 39 minutes (IQR, 1 hour and 51 minutes to 4 hours and 13 minutes) (P = .04). Median admission ASPECTS score was 8 (IQR, 6-9). The main stroke etiologies were cardioembolic (21 [30.9%]) and focal cerebral arteriopathy (17 [25.0%]). Median (IQR) time from stroke onset to IVT was 3 hours and 30 minutes (IQR, 2 hours and 33 minutes to 4 hours and 28 minutes). In the EVT group, the rate of postprocedure successful reperfusion (≥modified Treatment in Cerebral Infarction 2b) was 80.0% (32 of 40). Persistent proximal arterial stenosis was more frequent in focal cerebral arteriopathy (P < .01). Death occurred in 3 patients (4.4%). Median pedNIHSS reduction at 24 hours was 4 (IQR, 0-9) points. Intracerebral hemorrhage occurred in 4 patients and symptomatic intracerebral hemorrhage occurred in 1 patient, all in the EVT group. The median mRS was 2 (IQR, 0-3) at day 90 and 1 (IQR, 0-2) at 1 year, which was not significantly different between EVT and IVT only groups, although different in initial severity., Conclusions and Relevance: The findings of this cohort study suggest that use of EVT and/or IVT is safe in children with AIS.
- Published
- 2022
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40. Highlighting the Dystonic Phenotype Related to GNAO1.
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Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, and Anheim M
- Subjects
- Humans, Phenotype, Dystonia genetics, Dystonic Disorders genetics, GTP-Binding Protein alpha Subunits, Gi-Go genetics, Movement Disorders genetics, Parkinsonian Disorders genetics
- Abstract
Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea., Objective: The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders., Methods: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years). Patients experiencing either severe or profound intellectual disability or early-onset epileptic encephalopathy were excluded., Results: Twenty-four patients and 1 asymptomatic subject were included. All patients showed dystonia as prominent movement disorder. Dystonia was focal in 1, segmental in 6, multifocal in 4, and generalized in 13. Six patients showed adolescence or adulthood-onset dystonia. Seven patients presented with parkinsonism and 3 with myoclonus. Dysarthria was observed in 19 patients. Mild and moderate ID were present in 10 and 2 patients, respectively., Conclusion: We highlighted a mild GNAO1-related phenotype, including adolescent-onset dystonia, broadening the clinical spectrum of this condition. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
- Published
- 2022
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41. Screening for neurodevelopmental disorders in children with congenital heart disease.
- Author
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Billotte M, Deken V, Joriot S, Vaksmann G, Richard A, Bouzguenda I, Godart F, Baudelet JB, Rakza T, Nguyen The Tich S, and Guillaume MP
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- Adult, Child, Humans, Mass Screening, Surveys and Questionnaires, Heart Defects, Congenital complications, Heart Defects, Congenital diagnosis, Heart Defects, Congenital epidemiology, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders epidemiology, Neurodevelopmental Disorders etiology
- Abstract
The aim of this study was to evaluate the frequency of neurodevelopmental disorders (NDD) in children with significant congenital heart disease (CHD) and to determine associated factors to NDD and frequency of follow-up in developmental therapies. Two hundred and ten children with significant CHD aged from 6 to 66 months were enrolled over a period of six months. The Ages & Stages Questionnaire Third Edition in French (ASQ-3) was used to assess neurodevelopmental domains. NDD were defined if cut-off scores were ≤ - 1SD. - 1SD corresponded to "Monitor" range: children with minor or emerging disorders; - 2SD corresponded to "Refer" range: children exhibiting neurodevelopmental delays. Forty children were in "Monitor" range and 86 in "Refer" range. NDD rate was 60.0% (n = 126, 95% CI, 53.4 to 66.6%). There was no difference regarding CHD severity (p = 0.99). Only the presence of non-cardiac disease (OR = 2.14; 95% CI, 1.11 to 4.20) was associated with NDD. Forty-six children with NDD had no developmental follow-up (among them 21 were in "Refer" range (10%)) despite this being available.Conclusion: Children with significant CHD are at risk for NDD regardless of CHD severity. Systematic and early monitoring in a specific care program is required. Barriers that prevent access of care must be identified.Trial registration: Neurodevelopmental Disorders in Children With Congenital Heart Disease. NeuroDis-CHD. NCT03360370. https://clinicaltrials.gov/ct2/show/NCT03360370 What is Known: • Children with CHD are at risk for neurodevelopmental disorders and behavioural problems impacting their social adaptation, academic achievements and quality of personal and family life even in adulthood. What is New: • Children with CHD are at risk for neurodevelopmental disorders regardless of the complexity of the CHD. • Even with the availability of appropriate developmental services, children with CHD are not correctly followed, highlighting the need of a specific program of care for a better outcome. Local barriers that prevent access of care of those children must be identified.
- Published
- 2021
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42. Amniotic bands and associated polymicrogyria: In favor of a unique ischemic cause.
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Feucht F, Vaast P, Bonniere M, Colson C, Mamouri O, Joriot S, and Houfflin Debarge V
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- Humans, Infant, Newborn, Male, Amniotic Band Syndrome etiology, Polymicrogyria etiology
- Published
- 2019
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43. Hydrops and fetal hypoplastic left heart: An unexpected improvement after cessation of maternal polysubstance abuse.
- Author
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Chevalier G, Rakza T, Joriot S, Gautier S, and Houfflin-Debarge V
- Subjects
- Adult, Alcoholism complications, Aortic Coarctation etiology, Aortic Coarctation surgery, Cannabis adverse effects, Cocaine-Related Disorders complications, Epilepsy complications, Epilepsy drug therapy, Female, Fetal Alcohol Spectrum Disorders diagnosis, Gestational Age, Humans, Hypoplastic Left Heart Syndrome complications, Hypoplastic Left Heart Syndrome diagnostic imaging, Infant, Newborn, Male, Oxazolidinones adverse effects, Oxazolidinones therapeutic use, Pregnancy, Prenatal Care, Prognosis, Tobacco Use adverse effects, Ultrasonography, Prenatal, Hydrops Fetalis therapy, Hypoplastic Left Heart Syndrome embryology, Pregnancy Complications therapy, Pregnancy Outcome, Substance-Related Disorders complications
- Published
- 2018
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44. Contribution of fetal brain MRI in management of severe fetal anemia.
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Ghesquière L, Houfflin-Debarge V, Verpillat P, Fourquet T, Joriot S, Coulon C, Vaast P, and Garabedian C
- Subjects
- Anemia etiology, Brain abnormalities, Female, Fetal Diseases etiology, Humans, Magnetic Resonance Imaging, Neuroimaging, Pregnancy, Retrospective Studies, Anemia diagnostic imaging, Brain diagnostic imaging, Fetal Diseases diagnostic imaging
- Abstract
Introduction: Intrauterine transfusion (IUT) has changed fetal anemia prognosis. However, long-term neurodevelopmental outcome is altered in 5% of children. Our objective was to study the contribution of fetal MRI to diagnosis brain lesions in case of fetal anemia., Material and Methods: Retrospective monocentric descriptive study from 2005 to 2016, including all patients followed for fetal anemia requiring IUT. The indications for MRI were: hydrops fetalis and / or hemoglobin <5 g / dL and / or more than 3 IUTs and / or acute severe anemia and / or ultrasound abnormality. Fetal and neonatal outcome and pediatric neurological monitoring were studied., Results: 89 patients were followed for fetal anemia with IUT and 28 (29.1%) had fetal MRI, 12 of which were abnormal. Two out of twelve had abnormal ultrasound. Seven out of twelve had poor neurological prognosis: 2 medical terminations of pregnancy were performed; 2 children had severe developmental delay and 3 children had schooling difficulties. Five out of twelve children had favorable neurological prognosis., Conclusion: MRI of the fetal brain makes it possible to better detect brain lesions than ultrasound does in the management of severe fetal anemia and seems particularly appropriate in cases of acute anemia., (Copyright © 2018 Elsevier B.V. All rights reserved.)
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- 2018
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45. Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
- Author
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Harding BN, Moccia A, Drunat S, Soukarieh O, Tubeuf H, Chitty LS, Verloes A, Gressens P, El Ghouzzi V, Joriot S, Di Cunto F, Martins A, Passemard S, and Bielas SL
- Subjects
- Cerebellum pathology, Child, Female, Humans, Infant, Infant, Newborn, Male, Microcephaly pathology, Neocortex pathology, RNA Splicing genetics, Genes, Recessive genetics, Intracellular Signaling Peptides and Proteins genetics, Microcephaly genetics, Neurons pathology, Protein Serine-Threonine Kinases genetics
- Abstract
Primary microcephaly is a neurodevelopmental disorder that is caused by a reduction in brain size as a result of defects in the proliferation of neural progenitor cells during development. Mutations in genes encoding proteins that localize to the mitotic spindle and centrosomes have been implicated in the pathogenicity of primary microcephaly. In contrast, the contractile ring and midbody required for cytokinesis, the final stage of mitosis, have not previously been implicated by human genetics in the molecular mechanisms of this phenotype. Citron kinase (CIT) is a multi-domain protein that localizes to the cleavage furrow and midbody of mitotic cells, where it is required for the completion of cytokinesis. Rodent models of Cit deficiency highlighted the role of this gene in neurogenesis and microcephaly over a decade ago. Here, we identify recessively inherited pathogenic variants in CIT as the genetic basis of severe microcephaly and neonatal death. We present postmortem data showing that CIT is critical to building a normally sized human brain. Consistent with cytokinesis defects attributed to CIT, multinucleated neurons were observed throughout the cerebral cortex and cerebellum of an affected proband, expanding our understanding of mechanisms attributed to primary microcephaly., (Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
- Published
- 2016
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46. Phenotypic variability of prenatally presenting Gaucher's disease.
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Beaujot J, Joriot S, Dieux A, Vaast P, Franquet-Ansart H, Valat AS, Deruelle P, Holder-Espinasse M, and Devisme L
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- Abortion, Eugenic, Adult, Consanguinity, Female, Fetal Death, Humans, Pregnancy, Young Adult, Gaucher Disease diagnostic imaging, Phenotype, Ultrasonography, Prenatal
- Published
- 2013
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47. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
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Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, and Rodriguez D
- Subjects
- Female, Humans, Male, Phenotype, X Chromosome Inactivation, Guanylate Kinases genetics, Mosaicism, Mutation, Olivopontocerebellar Atrophies genetics
- Abstract
Background: Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH)., Methods: Fourteen patients (12 females and two males; aged 16 months-14 years) presenting with PCH at neuroimaging and with clinical characteristics unsuggestive of PCH1 or PCH2 were included. The CASK gene screening was performed using Array-CGH and sequencing. Clinical and neuroradiological features were collected., Results: We observed a high frequency of patients with a CASK mutation (13/14). Ten patients (8 girls and 2 boys) had intragenic mutations and three female patients had a Xp11.4 submicroscopic deletion including the CASK gene. All were de novo mutations. Phenotype was variable in severity but highly similar among the 11 girls and was characterized by psychomotor retardation, severe intellectual disability, progressive microcephaly, dystonia, mild dysmorphism, and scoliosis. Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and optic atrophy), deafness and epilepsy. As expected in an X-linked disease manifesting mainly in females, the boy hemizygous for a splice mutation had a very severe phenotype with nearly no development and refractory epilepsy. We described a mild phenotype in a boy with a mosaic truncating mutation. We found some degree of correlation between severity of the vermis hypoplasia and clinical phenotype., Conclusion: This study describes a new series of PCH female patients with CASK inactivating mutations and confirms that these patients have a recognizable although variable phenotype consisting of a specific form of pontocerebellar hypoplasia. In addition, we report the second male patient to present with a severe MICPCH phenotype and a de novo CASK mutation and describe for the first time a mildly affected male patient harboring a mosaic mutation. In our reference centre, CASK related PCH is the second most frequent cause of PCH. The identification of a de novo mutation in these patients enables accurate and reassuring genetic counselling.
- Published
- 2012
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48. Ultrasound diagnosis, management and prognosis in a consecutive series of 27 cases of fetal hydrops following maternal parvovirus B19 infection.
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Chauvet A, Dewilde A, Thomas D, Joriot S, Vaast P, Houfflin-Debarge V, and Subtil D
- Subjects
- Erythema Infectiosum diagnostic imaging, Erythema Infectiosum virology, Female, Humans, Hydrops Fetalis diagnostic imaging, Pregnancy, Prognosis, Retrospective Studies, Ultrasonography, Prenatal, Erythema Infectiosum complications, Hydrops Fetalis virology, Pregnancy Complications, Infectious diagnostic imaging
- Abstract
Introduction: Fetal hydrops caused by anemia from parvovirus B19 infection (FH-B19) is rare. Doppler measurement of the middle cerebral artery peak systolic velocity (PSV-MCA) improves its prenatal diagnosis, but its frequency and prognosis are still poorly known. Despite improved survival due to in utero transfusions, the possibility of late neurological sequelae makes prognosis uncertain., Objectives: To assess the frequency, management and prognosis of a consecutive series of FH-B19 observed over a 15-year period., Methods: Retrospective study of 27 cases of FH-B19, that is, 3/100,000 births, 24 of them discovered during routine second-trimester ultrasound. All but 1 case (96.2%) had at least four of the six ultrasound signs that Saltzman et al. [Obstet Gynecol 1989;74:106-111] suggested as indicators of anemia. Of the fetuses tested, 80% had a PSV-MCA >1.5 MoM, also indicative of anemia. Of the 19 fetuses treated by exchange transfusions, 11 were liveborn compared with 2 of the 6 not so treated (57.8 vs. 33.3%, NS). The survival rate was higher during the second half of the study period (23.1 vs. 71.4%, p < 0.02) for less severe anemia (p < 0.03) and for repeated transfusions (p = 0.03). In our series, 1 case of prenatal cerebral atrophy was identified on screening. All 13 liveborn children appeared healthy at the age of 1 year., Conclusion: In cases of fetal hydrops, Saltzman et al.'s ultrasound criteria and PSV-MCA measurement made it possible to determine the likelihood that anemia is the cause of the hydrops and to measure its intensity. Use of these techniques allowed us to choose the most appropriate treatment (transfusion or not, depending on the degree of anemia), and survival improved notably in our series., (Copyright © 2011 S. Karger AG, Basel.)
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- 2011
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49. Evaluation of inhaled .NO in a model of rat neonate brain injury caused by hypoxia-ischaemia.
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Joriot-Chekaf S, Sfeir R, Riou Y, Gressens P, Vallée L, Bordet R, and Vamecq J
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- Administration, Inhalation, Animals, Animals, Newborn, Atrophy chemically induced, Brain pathology, Brain Infarction etiology, Carotid Arteries surgery, Disease Models, Animal, Dose-Response Relationship, Drug, Female, Humans, Infant, Newborn, Nitric Oxide administration & dosage, Pregnancy, Rats, Vasodilator Agents administration & dosage, Brain Infarction pathology, Nitric Oxide therapeutic use, Respiratory Insufficiency drug therapy, Vasodilator Agents therapeutic use
- Abstract
Objectives: Inhaled NO (INO), at 5-40 parts per million (ppm) in the air, is indicated for treating neonatal hypoxic respiratory failure. Whether these doses of INO are protective or toxic towards brain was here evaluated in laboratory animals., Methods: In rat neonates (postnatal day 7), a brain injury based on permanent right carotid artery occlusion plus transient (90 min) respiratory hypoxia (8% O(2)) was challenged by two NO dosages (10 and 40 ppm) given either before, during or after transient hypoxia. Three weeks later, animal brains were studied for the loss of cerebral matter (infarct or atrophy)., Results: In right hemispheres, significant increases (26-39%) in lesion sizes were induced by 40 and not 10 ppm INO, whatever the inhalation period. The two doses reduced significantly the left hemisphere volume only when NO was inhaled at the re-oxygenation period., Discussion: Our results suggest that high doses of INO, brain damaging events and inhalation at re-oxygenation might affect brain integrity when these conditions are cumulated. However, the clinical relevance of this (infarct or atrophy) and previously described (haematomas) brain toxicity associated with INO remains to be clarified in the human neonates, for instance through non-invasive cerebral imagery follow-up of patients given INO., ((c) 2009 Elsevier Ltd. All rights reserved.)
- Published
- 2010
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50. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
- Author
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Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, and Bonneau D
- Subjects
- Cerebrum metabolism, Child, Child, Preschool, Haploidy, Humans, Infant, MEF2 Transcription Factors, Cerebrum abnormalities, Chromosome Deletion, Chromosomes, Human, Pair 5 genetics, Epilepsy genetics, Intellectual Disability genetics, MADS Domain Proteins genetics, Myogenic Regulatory Factors genetics, Stereotypic Movement Disorder genetics
- Abstract
Background: Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation., Method: Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-genome oligonucleotide array-CGH., Results: 5q14.3 microdeletions ranging from 216 kb to 8.8 Mb were detected in five unrelated patients with the following phenotypic similarities: severe mental retardation with absent speech, hypotonia and stereotypic movements. Facial dysmorphic features, epilepsy and/or cerebral malformations were also present in most of these patients. The minimal common deleted region of these 5q14 microdeletions encompassed only MEF2C, the gene for a protein known to act in brain as a neurogenesis effector, which regulates excitatory synapse number. In a patient with a similar phenotype, an MEF2C nonsense mutation was subsequently identified., Conclusion: Taken together, these results strongly suggest that haploinsufficiency of MEF2C is responsible for severe mental retardation with stereotypic movements, seizures and/or cerebral malformations.
- Published
- 2010
- Full Text
- View/download PDF
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