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1.
Clin Toxicol (Phila) ; 61(5): 370-378, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37183679

RESUMEN

BACKGROUND AND OBJECTIVE: In the European Union, the record of cocaine-related seizures indicates an expanding supply. The purity has also been increasing. The health impact of these trends remains poorly documented, in particular, the changes and clinical manifestations of intoxication in young children. We attempted to evaluate the trend in French pediatric admissions for cocaine intoxication/exposure over an 11-year period (2010-2020). METHODS: A retrospective, national, multicenter, study of a pediatric cohort. All children less than 15 years of age admitted to a tertiary-level pediatric emergency unit for proven cocaine intoxication (compatible symptoms and positive toxicological screening) during the reference period were included. RESULTS: Seventy-four children were included. Forty-six percent were less than 6 years old. Annual admissions increased by a factor of 8 over 11 years (+700%) and 57% of all cases were admitted in the last two years. The main clinical signs were neurologic (59%) followed by cardiovascular symptoms (34%). Twelve patients were transferred to the pediatric intensive care unit. Factors significantly associated with the risk of being transferred to the pediatric intensive care unit were initial admission to the pediatric resuscitation area (P < 0.001), respiratory impairment (P < 0.01), mydriasis (P < 0.01), cardiovascular symptoms (P = 0.014), age of less than 2 years (P = 0.014). Blood and/or urine toxicological screening isolated eighteen other substances besides cocaine in 46 children (66%). CONCLUSION: Children are collateral victims of the changing trends in cocaine availability, use and purity. Admissions of intoxicated children to pediatric emergency departments are more frequent and there is an increase in severe presentations. Therefore, this is a growing public health concern.


Asunto(s)
Cocaína , Niño , Humanos , Preescolar , Estudios Retrospectivos , Convulsiones , Hospitalización , Servicio de Urgencia en Hospital
2.
J Mark Access Health Policy ; 11(1): 2154418, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36518150

RESUMEN

Background: Clinician's choice of hypoallergenic formulas in the first-line management of cow's milk protein allergy (CMPA) should be informed by evidence on clinical efficacy and cost-effectiveness. Objective: We compare the cost-effectiveness of amino acid-based formula (AAF), extensively hydrolyzed casein formula with Lactobacillus rhamnosus Gorbach Goldin (EHCF+LGG), extensively hydrolyzed whey formula (EHWF), and rice hydrolyzed formula (RHF) in non-breastfed children in France. Methods: Immunotolerance and atopic manifestations' prevalence were based on a prospective non-randomized study with a 36-month follow-up. Resource utilization was sourced from a survey of French clinicians, and unit costs were based on national data. Costs and health consequences were discounted at 2.5% annually. Results were reported using the Collective and French National Health Insurance perspectives. Results: Children receiving EHCF+LGG were predicted to require less healthcare resources, given their reduced prevalence of CMPA symptoms at 3 years. In the base case, EHCF+LGG led to savings of at least €674 per child compared to AAF, EHWF, and RHF at 3 years, from both perspectives. Nutrition had the highest economic burden in CMPA, driven by hypoallergenic formulas and dietetic replacements costs. Results were robust to one-way and probabilistic sensitivity analyses. Conclusions: EHCF+LGG was associated with more symptom-free time, higher immune tolerance, and lower costs.

3.
Rev Prat ; 72(8): 13-18, 2022 Oct.
Artículo en Francés | MEDLINE | ID: mdl-36512002

RESUMEN

Acute bronchiolitis is a very common condition in infants. It has a major effect on consultations in cities and use of hospital emergency rooms. The analysis of clinical data makes it easily to confirm the diagnosis and to assess the severity at the time of the evaluation, which determines the rest of the treatment. In all cases, families should be provided with simple monitoring advice given the potentially rapid development of the signs, especially in the youngest infants and those with vulnerability criteria.


La bronchiolite aiguë est une affection très courante chez le nourrisson. Son impact chaque année sur les consultations de ville et le recours aux urgences hospitalières est majeur. L'analyse des données cliniques permet de confirmer aisément le diagnostic et d'apprécier la gravité au moment de l'évaluation, conditionnant la suite de la prise en charge. Dans tous les cas, des conseils simples de surveillance devront être donnés aux familles compte tenu de l'évolution potentiellement rapide des signes, notamment chez les plus jeunes nourrissons et ceux présentant des critères de vulnérabilité.


Asunto(s)
Bronquiolitis Viral , Bronquiolitis , Infecciones por Virus Sincitial Respiratorio , Lactante , Humanos , Bronquiolitis/diagnóstico , Bronquiolitis/terapia
4.
Environ Microbiol ; 24(10): 4725-4737, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-36065993

RESUMEN

SARS-CoV-2 diagnosis is a cornerstone for the management of coronavirus disease 2019 (COVID-19). Numerous studies have assessed saliva performance over nasopharyngeal sampling (NPS), but data in young children are still rare. We explored saliva performance for SARS-CoV-2 detection by RT-PCR according to the time interval from initial symptoms or patient serological status. We collected 509 NPS and saliva paired samples at initial diagnosis from 166 children under 12 years of age (including 57 children under 6), 106 between 12 and 17, and 237 adults. In children under 12, overall detection rate for SARS-CoV-2 was comparable in saliva and NPS, with an overall agreement of 89.8%. Saliva sensitivity was significantly lower than that of NPS (77.1% compared to 95.8%) in pre-school and school-age children but regained 96% when considering seronegative children only. This pattern was also observed to a lesser degree in adolescents but not in adults. Sensitivity of saliva was independent of symptoms, in contrary to NPS, whose sensitivity decreased significantly in asymptomatic subjects. Performance of saliva is excellent in children under 12 at early stages of infection. This reinforces saliva as a collection method for early and unbiased SARS-CoV-2 detection and a less invasive alternative for young children.


Asunto(s)
Prueba de COVID-19 , COVID-19 , SARS-CoV-2 , Saliva , Adolescente , Adulto , Niño , Preescolar , Humanos , Técnicas de Laboratorio Clínico/métodos , COVID-19/diagnóstico , COVID-19/virología , Prueba de COVID-19/métodos , Nasofaringe/virología , Saliva/virología , SARS-CoV-2/genética , SARS-CoV-2/aislamiento & purificación
5.
Eur J Pediatr ; 180(9): 2993-2999, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33866403

RESUMEN

Febrile seizures (FS) are usually self-limiting and cause no morbidity. Nevertheless they represent very traumatic events for families. There is a need to identify key messages that reassure carers and help to prevent inappropriate, anxiety-driven behaviors associated with "fever phobia." No recommendations have been proposed to date regarding the content of such messages. Using a Delphi process, we have established a consensus regarding the information to be shared with families following a FS. Twenty physicians (child neurologists and pediatricians) from five European countries participated in a three-step Delphi process between May 2018 and October 2019. In the first step, each expert was asked to give 10 to 15 free statements about FS. In the second and third steps, statements were scored and selected according to the expert ranking of importance. A list of key messages for families has emerged from this process, which offer reassurance about FS based on epidemiology, underlying mechanisms, and the emergency management of FS should they recur. Interestingly, there was a high level of agreement between child neurologists and general pediatricians.Conclusion: We propose key messages to be communicated with families in the post-FS clinic setting. What is Known: • Febrile seizures (FS) are traumatic events for families. • No guidelines exist on what information to share with parents following a FS. What is New: • A Delphi process involving child neurologists and pediatricians provides consensual statement about information to deliver after a febrile seizure. • We propose key messages to be communicated with families in the post-FS clinic setting.


Asunto(s)
Convulsiones Febriles , Niño , Consenso , Fiebre , Humanos , Padres , Recurrencia , Convulsiones Febriles/etiología , Convulsiones Febriles/terapia
6.
Med Educ Online ; 26(1): 1919042, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33871308

RESUMEN

COVID-19 lockdowns have deeply impacted teaching programs. Online teaching has suddenly become the main form of medical education, a form that may be used as long as the pandemic continues. We aimed at analyzing how online teaching was perceived by both teachers and learners to help determine how to adapt curricula in the next few years. An anonymous cross-sectional survey of medical students, pediatric residents, neonatal fellows, and their respective teachers was conducted between June and August 2020 to assess feelings about quality, attendance, equivalence, and sustainability of online teaching programs. 146 Students and 26 teachers completed the survey. 89% of students agreed that the offered online teaching was an appropriate way of teaching during the pandemic. Less than half of learners and teachers felt they have received or provided a training of an equivalent level and quality as in usual courses. About one-third thought that this online teaching should continue after the crisis ends. Medical school students had significantly more mixed opinions on online teaching than residents and fellows did. Attendance of learners significantly improved with synchronous online classes (p < 0.001), and among more advanced learners (p < 0.002). Our study is the first of this kind to assess simultaneously the feelings of learners at different levels (medical students, residents, and fellows) and their respective teachers of pediatric on programs taught online. It showed that online programs were perceived as appropriate ways of teaching during the COVID pandemic. Further studies are, however, needed to assess the efficacy of such teaching methods on medical skills and communication capabilities.


Asunto(s)
COVID-19 , Educación a Distancia , Educación Médica/métodos , Docentes Médicos/psicología , Estudiantes de Medicina/psicología , Estudios Transversales , Femenino , Francia , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , Pandemias , SARS-CoV-2
7.
Euro Surveill ; 26(13)2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33797390

RESUMEN

BackgroundChildren have a low rate of COVID-19 and secondary severe multisystem inflammatory syndrome (MIS) but present a high prevalence of symptomatic seasonal coronavirus infections.AimWe tested if prior infections by seasonal coronaviruses (HCoV) NL63, HKU1, 229E or OC43 as assessed by serology, provide cross-protective immunity against SARS-CoV-2 infection.MethodsWe set a cross-sectional observational multicentric study in pauci- or asymptomatic children hospitalised in Paris during the first wave for reasons other than COVID (hospitalised children (HOS), n = 739) plus children presenting with MIS (n = 36). SARS-CoV-2 antibodies directed against the nucleoprotein (N) and S1 and S2 domains of the spike (S) proteins were monitored by an in-house luciferase immunoprecipitation system assay. We randomly selected 69 SARS-CoV-2-seropositive patients (including 15 with MIS) and 115 matched SARS-CoV-2-seronegative patients (controls (CTL)). We measured antibodies against SARS-CoV-2 and HCoV as evidence for prior corresponding infections and assessed if SARS-CoV-2 prevalence of infection and levels of antibody responses were shaped by prior seasonal coronavirus infections.ResultsPrevalence of HCoV infections were similar in HOS, MIS and CTL groups. Antibody levels against HCoV were not significantly different in the three groups and were not related to the level of SARS-CoV-2 antibodies in the HOS and MIS groups. SARS-CoV-2 antibody profiles were different between HOS and MIS children.ConclusionPrior infection by seasonal coronaviruses, as assessed by serology, does not interfere with SARS-CoV-2 infection and related MIS in children.


Asunto(s)
Anticuerpos Antivirales/inmunología , COVID-19/inmunología , Coronavirus Humano OC43 , SARS-CoV-2/inmunología , Síndrome de Respuesta Inflamatoria Sistémica , Adolescente , Anticuerpos Antivirales/sangre , COVID-19/sangre , COVID-19/diagnóstico , Niño , Preescolar , Estudios Transversales , Femenino , Francia/epidemiología , Humanos , Lactante , Recién Nacido , Masculino , Paris , Estaciones del Año , Pruebas Serológicas/métodos , Glicoproteína de la Espiga del Coronavirus
9.
Minerva Pediatr ; 71(2): 125-134, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28643991

RESUMEN

BACKGROUND: The main objective of this study was to assess the link between sleep duration, quality of life and depression in adolescents. The secondary objective was to study the sleeping behavior of a large sample of adolescents from different socioeconomic backgrounds. METHODS: Study subjects were high school students studying in or around Paris with a general, vocational or technological training background. A survey was conducted to evaluate the subject's perception of their own sleep, quality of life and depression. RESULTS: The survey analyzed 855 students between 14 and 19 years of age, with equal numbers of males and females. The average sleep duration was 7 h 14 min ±1 h 20 min and was inversely correlated with age (r=-0.142, P<0.01). Students studying vocational subjects reported significantly more sleep than students studying technological subjects (P=0.02). Univariate analyses revealed a positive relationship between sleep duration and quality of life (r=0.17, P<0.001) and an inverse relationship between sleep duration and depression (r=-0.5, P<0.001). Multivariate analyses identified depression, delayed sleep phase disorder, and medical condition as determinants of sleep duration. CONCLUSIONS: This investigation of a large student cohort has confirmed that the average sleep duration in adolescents is far below what is recommended. Depression significantly influenced sleep duration. We recommend that a quantitative and qualitative evaluation of sleep should be made during the medical examination of any adolescent.


Asunto(s)
Depresión/epidemiología , Calidad de Vida , Sueño/fisiología , Estudiantes/estadística & datos numéricos , Adolescente , Estudios de Cohortes , Femenino , Humanos , Masculino , Análisis Multivariante , Paris/epidemiología , Instituciones Académicas , Trastornos del Sueño del Ritmo Circadiano/epidemiología , Factores Socioeconómicos , Encuestas y Cuestionarios , Factores de Tiempo , Adulto Joven
10.
Pediatr Nephrol ; 34(4): 671-678, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30552564

RESUMEN

BACKGROUND: The optimal therapeutic regimen for children at onset of idiopathic nephrotic syndrome (INS) is still under debate. A better knowledge of the disease's course is necessary to design more appropriate and/or personalized treatment protocols. METHODS: We report the 5-year outcome of patients included from December 2007 to May 2010 in the prospective multicentric and multiethnic population-based NEPHROVIR study. Patients were treated at onset according to the French steroid protocol (3990 mg/m2, 18 weeks). Data were collected at 5 years or last follow-up. RESULTS: Out of the 188 children with nephrotic syndrome (121 boys, 67 girls; median age 4.1 years), 174 (93%) were steroid-sensitive. Six percent of steroid-sensitive patients required intravenous steroid pulses to get into remission. Relapse-free rate for steroid-sensitive patients was 21% (36/174) at last follow-up (median 72 months). A first relapse occurred in138 steroid sensitive patients (79%) with a median time of 8.3 months (IQ 3.4-11.3). Out of the 138 relapsers, 43 were frequent relapsers. Age at onset below 4 years was the only predictive factor of relapse, while gender, ethnicity, and delay to first remission were not. At 96 months of follow-up, 83% of frequent relapsers were still under steroids and/or immunosuppressive drugs. CONCLUSIONS: The treatment of the first flare deserves major improvements in order to reduce the prevalence of relapsers and the subsequent long-lasting exposure to steroids and immunosuppression.


Asunto(s)
Inmunosupresores/administración & dosificación , Síndrome Nefrótico/tratamiento farmacológico , Esteroides/administración & dosificación , Administración Intravenosa , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Francia/epidemiología , Humanos , Inmunosupresores/efectos adversos , Incidencia , Lactante , Masculino , Síndrome Nefrótico/diagnóstico , Síndrome Nefrótico/epidemiología , Estudios Prospectivos , Quimioterapia por Pulso , Recurrencia , Inducción de Remisión , Factores de Riesgo , Esteroides/efectos adversos , Factores de Tiempo , Resultado del Tratamiento
11.
Pediatr Res ; 83(1-1): 71-77, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-28846673

RESUMEN

BackgroundTo describe the growth patterns of children affected by Marfan syndrome (MFS) compared with those of unaffected children and to create growth charts.MethodsAn observational study of children referred to the French National MFS Reference Centre. A total of 259 children carrying an FBN1 gene mutation and fulfilling Ghent 1 criteria (MFS group) and 474 mutation-negative sibling controls (non-MFS group) were evaluated. Both groups were compared with French-accepted reference nomograms (Reference group).ResultsBoys and girls from the MFS group were significantly taller than those in the non-MFS group and in the reference group at all ages (P<0.0001). But, MFS children's overgrowth reduced with age. At 17 years of age, the mean height (MFS vs. non-MFS) was 191.2±8.4 cm (+2.9 SD) vs. 182.9±8.1 (+1.6 SD) for boys and 178.3±7.6 cm (+2.7 SD) vs. 169.5±6.8 (+1.2 SD) for girls, respectively. By contrast, the mean BMI of children in the MFS group was similar to those in the non-MFS group and inferior to the values of French general population, evolving around -1 SD.ConclusionGrowth patterns differ in patients with an FBN1 mutation. Knowing the growth parameters should allow physicians to better counsel patients and detect the associated diseases. The provided curves could also help to predict the final height.


Asunto(s)
Síndrome de Marfan/epidemiología , Síndrome de Marfan/fisiopatología , Adolescente , Tamaño Corporal , Huesos/anatomía & histología , Niño , Preescolar , Femenino , Fibrilina-1/genética , Francia , Humanos , Lactante , Recién Nacido , Masculino , Mutación , Nomogramas , Curva ROC , Estudios Retrospectivos
12.
Rev Prat ; 67(2): 179-182, 2017 02.
Artículo en Francés | MEDLINE | ID: mdl-30512854

RESUMEN

Signs of severity of acute bronchiolitis in the infant. About 3% of infants suffering from bronchiolitis will need hospitalization. Criteria to decide are mainly clinical: comorbidities (prematurity, cardiopulmonary pathology, age less than 6 weeks old), intensity of respiratory distress attested by polypnea, toxic aspect, inadequate oral food intake, need for O2 or and socio-familial criteria for confidence in looking for the child.


Signes de gravité d'une bronchiolite aiguë du nourrisson. Environ 3 % des nourrissons atteints de bronchiolite vont être hospitalisés. Les critères de recours hospitalier sont avant tout cliniques et comprennent les terrains à risque (prématurité, pathologie cardiopulmonaire, âge inférieur à 6 semaines), l'intensité de la détresse respiratoire appréciée sur la polypnée, l'altération majeure de l'état général, le retentissement alimentaire, l'oxygénodépendance et les contextes socio-familiaux entravant la surveillance au domicile.


Asunto(s)
Bronquiolitis , Niño , Hospitalización , Humanos , Lactante
13.
Presse Med ; 46(3): 263-270, 2017 Mar.
Artículo en Francés | MEDLINE | ID: mdl-27712933

RESUMEN

A little known pathology, increasingly diagnosed. Late vomiting after food intake predominate. An insidious chronic form, an explosive acute form. A clinical diagnosis of a typical story, reproducible. Milk and soy often involved, sometimes unusual foods.


Asunto(s)
Proteínas en la Dieta/efectos adversos , Enterocolitis/etiología , Hipersensibilidad a los Alimentos/etiología , Adulto , Niño , Preescolar , Diagnóstico Diferencial , Enterocolitis/diagnóstico , Enterocolitis/terapia , Hipersensibilidad a los Alimentos/diagnóstico , Hipersensibilidad a los Alimentos/terapia , Humanos , Lactante , Síndrome
14.
PLoS One ; 11(5): e0155556, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27171167

RESUMEN

RATIONALE: Congenital diaphragmatic hernia (CDH) is associated with a high incidence of respiratory problems, even after initial hospital discharge. These problems are likely to lead to re-hospitalization during infancy, although actual frequency of readmissions is unknown. OBJECTIVE: We aimed to determine the rate of hospitalization for wheezing in infants with CDH between the time of initial discharge and 24 months of age, and to identify factors associated with readmission. METHODS: Data about infants with CDH born in three French reference tertiary centers between January 2009 and March 2013 who were alive at hospital discharge, were extracted from a prospective national database. RESULTS: Ninety-two children were identified, and 86 were included in the analysis. In total, 116 wheezing episodes requiring a doctor's visit occurred in 50 infants (58%) before 24 months of age. Twenty-two children (26%) were readmitted at least once for wheezing exacerbations. RSV was present in 6 of 15 (40%) of children with available nasal samples at first readmission, and 1 of 5 (20%) at second readmission. Thoracic herniation of the liver, low gestational age, longer initial hospitalization, need for oxygen therapy at home, and eczema were all significantly associated with readmission for wheezing exacerbations. Fifty-three infants (62%) received palivizumab prophylaxis, but there was no association with the overall rate of readmission for wheezing exacerbations or RSV-related hospitalization. CONCLUSIONS: The rate of readmission for wheezing among infants with CDH is high, and significantly influenced by several prenatal and neonatal factors. Palivizumab prophylaxis was not associated with the rate of readmission.


Asunto(s)
Hernias Diafragmáticas Congénitas/epidemiología , Hernias Diafragmáticas Congénitas/fisiopatología , Readmisión del Paciente/estadística & datos numéricos , Ruidos Respiratorios/fisiopatología , Niño , Humanos , Lactante , Estimación de Kaplan-Meier , Factores de Riesgo
15.
Rev Prat ; 66(9): 965, 2016 Nov.
Artículo en Francés | MEDLINE | ID: mdl-30512359
16.
Rev Prat ; 66(8): 851-854, 2016 Oct.
Artículo en Francés | MEDLINE | ID: mdl-30512537

RESUMEN

Managing the risks of accident in child with food allergy. Prevention of accidents in children with food allergy requires above all an elimination diet of the allergen(s). The family can be able to identify allergens by reading labels or be informed of composition by restaurants. Patient education should also include an explanation of the personalized action plan for management of an allergic reaction and procedures for administration of drugs. The Individualized Care Project is the reference document in school.


Prévention des risques d'accident chez l'enfant ayant une allergie alimentaire La prévention des accidents chez l'enfant ayant une allergie alimentaire passe avant tout par un régime d'éviction du ou des aliments incriminés. La famille doit savoir identifier les allergènes par la lecture des étiquettes ou en se faisant fournir la composition des plats en restauration ou dans les ventes à emporter. L'éducation thérapeutique doit aussi comporter l'explication du plan d'action personnalisé de gestion d'une réaction allergique ainsi que les modalités d'administration des médicaments. En milieu scolaire, le projet d'accueil individualisé permet de prévenir au mieux les accidents par la transmission d'informations à propos des modalités possibles de restauration, ainsi que des traitements à administrer si nécessaire.


Asunto(s)
Hipersensibilidad a los Alimentos , Accidentes , Alérgenos , Niño , Hipersensibilidad a los Alimentos/complicaciones , Hipersensibilidad a los Alimentos/terapia , Humanos
17.
Rev Prat ; 66(8): 848-850, 2016 Oct.
Artículo en Francés | MEDLINE | ID: mdl-30512536

RESUMEN

Emergency management of food reaction in a child. Emergency management of food anaphylaxis depends on severity of the signs. In case of minor signs, antihistamines may be sufficient to contain the allergic reaction. If signs become stronger, in case of anaphylaxis, intramuscular injection of adrenaline should be given. The definition of anaphylaxis cannot be limited to shock. In practice, the rapid onset of clinical manifestations reaching two systems, after consumption of a suspect food is strongly suggestive of the diagnosis.


Conduite à tenir en urgence face à une réaction alimentaire chez un enfant La conduite à tenir en urgence face à une réaction alimentaire chez l'enfant dépend du degré de sévérité des signes. En cas de manifestations mineures, les antihistaminiques peuvent suffire à contenir la réaction. En cas d'aggravation des signes ou d'anaphylaxie d'emblée, l'adrénaline par voie intramusculaire est le traitement recommandé. La définition de l'anaphylaxie ne peut se limiter au choc anaphylactique. En pratique, la survenue rapide de manifestations cliniques atteignant deux systèmes, au décours de la consommation d'un aliment suspect, est fortement évocatrice d'anaphylaxie alimentaire.


Asunto(s)
Anafilaxia , Epinefrina , Hipersensibilidad a los Alimentos , Niño , Hipersensibilidad a los Alimentos/diagnóstico , Hipersensibilidad a los Alimentos/terapia , Antagonistas de los Receptores Histamínicos , Humanos , Inyecciones Intramusculares
18.
Genet Med ; 16(3): 246-50, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24008997

RESUMEN

PURPOSE: Because diagnosis of Marfan syndrome is difficult during infancy, we used a large cohort of children to describe the evolution of the Marfan syndrome phenotype with age. METHODS: Two hundred and fifty-nine children carrying an FBN1 gene mutation and fulfilling Ghent criteria were compared with 474 non-Marfan syndrome children. RESULTS: Prevalence of skeletal features changed with aging: prevalence of pectus deformity increased from 43% at 0-6 years to 62% at 15-17 years, wrist signs increased from 28 to 67%, and scoliosis increased from 16 to 59%. Hypermobility decreased from 67 to 47% and pes planus decreased from 73 to 65%. Striae increased from 2 to 84%. Prevalence of ectopia lentis remained stable, varying from 66 to 72%, similar to aortic root dilatation (varying from 75 to 80%). Aortic root dilatation remained stable during follow-up in this population receiving ß-blocker therapy. When comparing Marfan syndrome children with non-Marfan syndrome children, height appeared to be a simple and discriminant criterion when it was >3.3 SD above the mean. Ectopia lentis and aortic dilatation were both similarly discriminating. CONCLUSION: Ectopia lentis and aortic dilatation are the best-discriminating features, but height remains a simple discriminating variable for general practitioners when >3.3 SD above the mean. Mean aortic dilatation remains stable in infancy when children receive a ß-blocker.


Asunto(s)
Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Proteínas de Microfilamentos/genética , Adolescente , Antagonistas Adrenérgicos beta/uso terapéutico , Aorta/patología , Estatura , Niño , Preescolar , Estudios de Cohortes , Diagnóstico Diferencial , Dilatación Patológica/diagnóstico , Desplazamiento del Cristalino/diagnóstico , Femenino , Fibrilina-1 , Fibrilinas , Pruebas Genéticas/métodos , Pruebas Genéticas/estadística & datos numéricos , Humanos , Lactante , Recién Nacido , Masculino , Síndrome de Marfan/tratamiento farmacológico , Mutación , Fenotipo , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
19.
BMJ Case Rep ; 20132013 Aug 23.
Artículo en Inglés | MEDLINE | ID: mdl-23975912

RESUMEN

A 14-year-old girl was admitted to the emergency department for repeated seizures with no fever. High blood pressure at admission was ascribed to the status epilepticus. Seizure recurrence promoted transfer to the paediatric intensive care unit. The MRI visualised bilateral, subcortical, white-matter lesions in the parietal and occipital lobes suggesting posterior reversible encephalopathy syndrome (PRES). Continuous nicardipine infusion corrected the hypertension and neurological manifestations within a few hours. The diagnostic workup showed right renal artery stenosis. Blood pressure returned to normal values for age after right nephrectomy. She was discharged home without treatment. She had no residual neurological impairments. This case highlights the risk of misinterpreting sustained hypertension in children with repeated seizures. We briefly review paediatric PRES, which is rare as compared to adults. Increased awareness among critical care physicians, together with greater availability of cerebral MRI, is decreasing the time to diagnosis.


Asunto(s)
Síndrome de Leucoencefalopatía Posterior/etiología , Obstrucción de la Arteria Renal/complicaciones , Adolescente , Femenino , Humanos , Imagen por Resonancia Magnética , Nefrectomía , Síndrome de Leucoencefalopatía Posterior/diagnóstico , Obstrucción de la Arteria Renal/diagnóstico
20.
Rev Prat ; 61(4): 479-84, 2011 Apr.
Artículo en Francés | MEDLINE | ID: mdl-21548225

RESUMEN

The specific aims of clinical exams of children from 3 to 12 years of age are to assess: growth including weight and height, and body mass index (BMI) to prevent obesity, neurodevelopment both motor and intellectual including sensorial impairment to detect early learning disabilities, immunization adequacy by assessing routine schedule of vaccination and booster. The GP or paediatrician should cooperate with specialised services and nursery or primary schools to match the system of education to the needs of a given child, particularly in case of learning disabilities (normally, entry into kindergarden at 6 years of age).


Asunto(s)
Desarrollo Infantil/fisiología , Pediatría , Examen Físico , Niño , Preescolar , Pruebas Auditivas , Humanos , Vacunación , Pruebas de Visión
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