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1.
Ultrasound Obstet Gynecol ; 57(1): 97-104, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32339337

RESUMO

OBJECTIVES: To compare the ability of detailed routine ultrasound examination, performed without knowledge of maternal serology and fetal status, with that of targeted prenatal imaging performed in prenatal diagnostic units in cases of known fetal infection to identify cytomegalovirus (CMV)-infected fetuses that will develop long-term sequelae. METHODS: All prenatal imaging reports were collected for 255 children with congenital CMV in a registered cohort between 2013 and 2017 (NCT01923636). All women had undergone detailed routine fetal ultrasound examination at 20-24 and 30-34 weeks as part of routine antenatal care. All cases of known fetal CMV infection had also undergone targeted prenatal ultrasound examination. Postnatal structured follow-up for up to 48 months of age involved clinical, audiological and neurological assessment, including Brunet-Lezine scoring. Long-term sequelae (> 12 months) were considered to be mild in cases with isolated unilateral hearing loss and/or vestibular disorders, and severe in cases with bilateral hearing loss and/or neurological sequelae. All imaging reports were analyzed retrospectively with the knowledge of congenital CMV infection, searching for reference to findings that were, or could have been, related to fetal infection. Findings were analyzed in relation to whether the cases were diagnosed with CMV in utero or only postnatally. RESULTS: There were 237 children with complete follow-up data (> 12 months), for a median of 24 (range, 12-48) months. Of these, 30% (71/237) were diagnosed with CMV prenatally and 70% (166/237) were diagnosed within 3 weeks after birth. 72.5% (29/40) of children with long-term sequelae, including 74% (14/19) with severe long-term sequelae, were not identified in the prenatal period. Among those diagnosed prenatally, the sensitivity of prenatal imaging for predicting long-term sequelae and severe long-term sequelae was 91% and 100%, respectively, while, in the group diagnosed only postnatally, non-specific infection-related ultrasound findings had been reported without raising suspicion in 48% of cases with long-term sequelae and 64% of those with severe long-term sequelae. CONCLUSIONS: Routine detailed ultrasound examination in pregnancy is not an appropriate screening tool for congenital CMV infection that leads to long-term sequelae, in contrast with the high performance of targeted prenatal imaging in known cases of fetal infection. The non-specific nature of ultrasound features of CMV and their evolution, and a lack of awareness of caregivers about congenital CMV, are likely explanations. Awareness of the sonologist regarding congenital CMV and knowledge of the maternal serological status in the first trimester seem key to the performance of prenatal ultrasound. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Infecções por Citomegalovirus/diagnóstico por imagem , Ultrassonografia Pré-Natal/normas , Citomegalovirus/isolamento & purificação , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/transmissão , Feminino , Humanos , Transmissão Vertical de Doenças Infecciosas , Estudos Longitudinais , Programas de Rastreamento/efeitos adversos , Valor Preditivo dos Testes , Gravidez , Complicações Infecciosas na Gravidez
2.
Arch Pediatr ; 29(8): 630-634, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36163095

RESUMO

The French Society of Neonatology (SFN) conducted a national questionnaire survey on the simulation-based education neonatal curriculum for pediatric residents. The response rate was 93% for the pediatric curriculum coordinators and 97% for the neonatal intensive care unit medical directors and neonatal transport teams. The average hourly volume during the curriculum was 21 ± 17 h. Overall, 89% of regional pediatric curricula offered at least one simulation session. Each simulation program involved newborn resuscitation in the delivery room but often lacked a formalized program. Additionally, half of the neonatology departments provided simulation-based education. Simulation education is now common for training pediatric residents in neonatology in France but it is heterogeneous in the French territory.


Assuntos
Internato e Residência , Neonatologia , Recém-Nascido , Criança , Humanos , Neonatologia/educação , Currículo , Competência Clínica , Inquéritos e Questionários
3.
Gynecol Obstet Fertil ; 36(3): 278-88, 2008 Mar.
Artigo em Francês | MEDLINE | ID: mdl-18337147

RESUMO

OBJECTIVE: To evaluate whether magnesium sulphate (MgSO(4)) given to women at risk of very-preterm birth would be neuroprotective in preterm newborns. PATIENTS AND METHODS: In 18 French centres, women with fetuses of gestational age less than 33 weeks whose birth was expected within 24 hours were randomised from 1993 to 2003 with follow-up of infants until two years of age after discharge. They received a single injection of 0.1 mg/l de MgSO(4) (4g) or isotonic 0.9% saline over 30 minutes. This study is registered as an International Standard Randomised Controlled Trial, number 00120588. Analyses were based on intention to treat. RESULTS: Data from 688 infants were analysed of which 606 were followed up and 10 were lost to follow-up. Comparing infants who received MgSO(4) or placebo, respectively, has shown a decrease of all primary endpoints (total mortality, severe white matter injury and their combined outcome) and of all secondary endpoints (motor dysfunction, cerebral palsy, cognitive dysfunction and their combined outcomes at two years of age) in the MgSO(4) group. The decrease was nearly significant or significant for gross motor dysfunction (OR: 0.65 [0.41-1.02]) and combined criteria: death and cerebral palsy (OR: 0.65 [0.42-1.03]); death and gross motor dysfunction (OR: 0.62 [0.41-0.93]); death, cerebral palsy and cognitive dysfunction (OR: 0.68 [0.47-1.00]). No major maternal adverse effects were observed in the MgSO(4) group. DISCUSSION AND CONCLUSION: Given its beneficial effects and safety, the use of prenatal low-dose MgSO(4) for preventing neurodisabilities of very-preterm infants should be discussed either as a stand-alone treatment or as part of a combination treatment, at least in the context of clinical trials.


Assuntos
Mortalidade Infantil , Doenças do Prematuro/prevenção & controle , Sulfato de Magnésio/farmacologia , Doenças do Sistema Nervoso/prevenção & controle , Trabalho de Parto Prematuro/tratamento farmacológico , Tocolíticos/farmacologia , Adulto , Paralisia Cerebral/epidemiologia , Paralisia Cerebral/mortalidade , Paralisia Cerebral/prevenção & controle , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/epidemiologia , Doenças do Prematuro/mortalidade , Leucomalácia Periventricular/epidemiologia , Leucomalácia Periventricular/mortalidade , Leucomalácia Periventricular/prevenção & controle , Estudos Longitudinais , Masculino , Morbidade , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/mortalidade , Gravidez , Resultado da Gravidez , Estudos Prospectivos , Resultado do Tratamento
4.
J Gynecol Obstet Biol Reprod (Paris) ; 37(4): 415-8, 2008 Jun.
Artigo em Francês | MEDLINE | ID: mdl-18406071

RESUMO

Pudendal nerve block may be indicated during instrumental delivery in situations where peridural anesthesia is unavailable. We report three cases of neonatal lidocaine intoxication following maternal pudendal block during delivery. Clinical features were hypotonia, pupillary mydriasis fixed to light, apnea, cyanosis and seizures. Two neonates required mechanical ventilation. Lidocaine was found in the serum of two babies. In all three cases, recovery was complete. The pharmacokinetics of lidocaine in a highly vascularized perineum during labor increase the risk of neonatal intoxication. A possible intoxication by local anesthetics should be considered in neonates presenting an acute distress in the delivery room.


Assuntos
Anestesia Obstétrica/efeitos adversos , Anestésicos Locais/efeitos adversos , Lidocaína/efeitos adversos , Anestésicos Locais/sangue , Apneia/induzido quimicamente , Feminino , Humanos , Recém-Nascido , Lidocaína/sangue , Masculino , Troca Materno-Fetal , Hipotonia Muscular/induzido quimicamente , Midríase/induzido quimicamente , Bloqueio Nervoso , Gravidez , Convulsões/induzido quimicamente
5.
Arch Pediatr ; 14 Suppl 1: S16-23, 2007 Sep.
Artigo em Francês | MEDLINE | ID: mdl-17939952

RESUMO

Palivizumab is a recombinant humanized monoclonal antibody against the F glycoprotein of respiratory syncytial virus (RSV). It has been licensed since 1999 in France for the prevention of serious lower respiratory-tract infection caused by RSV requiring hospitalization in children born at 35 weeks gestation or less and who are less than 6 months old at the onset of RSV season, or in children less than 2 years old who have received treatment for bronchopulmonary dysplasia within the last 6 months. Since 2003, it has been also licensed for children less than 2 years with hemodynamically significant heart disease. Its high cost leads french and foreign pediatric Societies to restrain its indications for children with the highest risk of severe illness.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Antivirais/uso terapêutico , Infecções por Vírus Respiratório Sincicial/prevenção & controle , Fatores Etários , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais/economia , Anticorpos Monoclonais Humanizados , Antivirais/administração & dosagem , Antivirais/economia , Displasia Broncopulmonar/complicações , Displasia Broncopulmonar/terapia , Pré-Escolar , Estudos de Coortes , Análise Custo-Benefício , França , Idade Gestacional , Hospitalização , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Estudos Multicêntricos como Assunto , Palivizumab , Ensaios Clínicos Controlados Aleatórios como Assunto , Fatores de Risco , Fatores de Tempo
6.
Arch Pediatr ; 24(9): 825-832, 2017 Sep.
Artigo em Francês | MEDLINE | ID: mdl-28822736

RESUMO

INTRODUCTION: In recent years, developments in virological tools have led to the easy detection of rhinoviruses and enteroviruses (E/RV). Their detection is very frequent in cases of airway involvement in children and their demonstrated causality. But the morbidity of E/RV in the neonatal period is unknown due to lack of epidemiological data. The objective of this study was to evaluate the incidence and clinical characteristics of these infections in hospitalized neonates. MATERIALS AND METHODS: We retrospectively analyzed the virology specimens of all neonates hospitalized at the Caen University Hospital between 2006 and 2011. Clinical characteristics were obtained from the charts. RESULTS: During the study period, 4544 infants aged less than 28 days were hospitalized: 4159 in the neonatal ward and 385 in the pediatric ward. Among these, 711 virology specimens were available, 31 % of which identified at least one virus. An E/RV was identified in 87 patients (1.9 % of the neonates admitted during the study period): 52 in the pediatric ward (13.5 % of 385), and 35 in the neonatal ward (0.8 % of 4159). The mean gestational age was 39 weeks in the pediatric cohort and 35 weeks in the neonatal cohort. The main indication for virological analysis was persistent drowsiness (28 %), temperature above 38°C (25 %), an apparently life-threatening event (23 %), bradycardia (20.5 %), and pallor (20.5 %). Respiratory symptoms associated with E/RV infection were coryza (74 %), cough (35 %), hypoxemia (32 %), accessory muscle use, and recession (31 %). Digestive symptoms were poor feeding (59 %), regurgitation (38 %), abdominal distension (24 %), and projectile vomiting (17 %). Twenty-three percent of the patients required admission to the neonatal ICU or pediatric ICU. Respiratory treatments included oxygen (24 % of 87 patients), continuous positive airway pressure (11 %), and ventilation (5 %). Antibiotics were prescribed in 41 % of the patients (46), but only 10 % (9) had an identified concomitant bacterial infection. In the neonatal department, nosocomial acquisition was suspected in 50 % of E/RV infections. CONCLUSION: E/RV infections have a significant morbidity in neonates, and nosocomial transmission of the virus is underestimated. We recommend that respiratory viruses, including E/RV, be tested for in any unexplained signs in a neonate. Better identification of viruses might shorten the duration of unnecessary antibiotics.


Assuntos
Infecções por Enterovirus/diagnóstico , Infecções por Picornaviridae/diagnóstico , Rhinovirus , Infecções por Enterovirus/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Infecções por Picornaviridae/epidemiologia , Estudos Retrospectivos
7.
Arch Pediatr ; 24(9): 795-801, 2017 Sep.
Artigo em Francês | MEDLINE | ID: mdl-28755799

RESUMO

AIM: Adverse drug events are a daily concern in neonatology departments. The aim of this study was to assess the professional practices of preparation and administration of injectable forms of medications in neonatology. MATERIALS AND METHODS: A professional practice evaluation with regard to the preparation and administration of various injectable forms of medications in different neonatology units within a given department was conducted by a pharmacy intern based on an assessment grid comprising ten criteria. Following an initial assessment, the results were presented to the care team, which validated the corrective measures put forward by a multiprofessional work group. A second assessment was conducted following the same methodology. RESULTS: Fifty of the department's 76 pediatric nurses were assessed during the first round of the audit and 21 during the second round. Two improvement priorities were identified: taking account of the dead volume of medication in needles and syringe hubs, together with complete identification of syringes used to administer medication. During the second round, these two aspects were improved, progressing from 38% to 100% and from 59% to 89%, respectively. CONCLUSION: To improve drug administration in neonatology and consequently, to improve patient safety, professional practice evaluation is an essential tool that requires close collaboration between the paramedical team, physicians and pharmacists. Its main value lies in the mobilization of the entire team around the subject in question, hence generating improved understanding and application of corrective measures.


Assuntos
Composição de Medicamentos/normas , Injeções , Enfermagem Neonatal/normas , Padrões de Prática em Enfermagem/normas , Humanos , Recém-Nascido , Estudos Prospectivos
8.
Arch Pediatr ; 24(5): 432-438, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28365188

RESUMO

BACKGROUND AND AIMS: Residents must balance patient care and the ongoing acquisition of medical knowledge. With increasing clinical responsibilities and patient overload, medical training is often left aside. In 2010, we designed and implemented a training course in neonatology and pediatric emergency medicine for residents in pediatrics, in order to improve their medical education. The course was made of didactic sessions and several simulation-based seminars for each year of residency. We conducted this study to assess the impact of our program on residents' satisfaction and self-assessed clinical skills. METHODS: A survey was conducted at the end of each seminar. The students were asked to complete a form on a five-point rating scale to evaluate the courses and their impact on their satisfaction and self-assessed clinical skills, following the French National Health Institute's adapted Kirkpatrick model. RESULTS: Sixty-four (84%) of the 76 residents who attended the courses completed the form. The mean satisfaction score for the entire course was 4.78±0.42. Over 80% of the students felt that their clinical skills had improved. CONCLUSION: Medical education is an important part of residency training. Our training course responded to the perceived needs of the students with consistently satisfactory evaluations. Before the evaluation of the impact of the course on patient care, further studies are needed to assess the acquisition of knowledge and skills through objective evaluations.


Assuntos
Currículo , Internato e Residência , Neonatologia/educação , Medicina de Emergência Pediátrica , Atitude do Pessoal de Saúde , Competência Clínica , França , Humanos , Avaliação de Programas e Projetos de Saúde , Inquéritos e Questionários
9.
J Gynecol Obstet Hum Reprod ; 46(1): 61-67, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28403958

RESUMO

OBJECTIVES: To describe the practice of fetal and placental pathological examinations in a large series of spontaneous stillbirths over 10 years. MATERIALS AND METHODS: Inclusion of cases recorded by the Lower Normandy Regional Fetal-Infant Mortality Observatory (observatoire régional de mortalité fœto-infantile) from January 1, 2005 to December 31, 2014. The possible cause of death was coded in accordance with the ReCoDe classification system. RESULTS: Seven hundred and forty-four cases were recorded. The placental examinations were conducted in 93.7% of cases (CI95%[91.7-95.3]), increasing over the study period, and an autopsy was proposed in 87.2% of cases (CI95%[84.8-89.6]). Autopsy was conducted less frequently during the most recent period, with parental refusal increasing over time. In multivariate analysis, no factor was associated with a higher frequency of placental examinations, while autopsy was proposed more often under certain circumstances: less than 4 pregnancies (P<10-2), birth weight from 1000 to 1500 grams (P=0.05), singleton (P<10-2), clinical context not suggesting a cause (P<10-3), type 1 or 2 maternity ward (P<10-2), antepartum death (P<10-3). CONCLUSION: Placental analysis was almost systematically realized, as suggested by international guidelines. Fetal autopsy was often performed, however only in some specific circumstances. New practice guidance to realize customized fetal autopsies appear to be necessary.


Assuntos
Autopsia/estatística & dados numéricos , Feto/patologia , Placenta/patologia , Natimorto/epidemiologia , Adulto , Feminino , França/epidemiologia , Número de Gestações , Humanos , Recém-Nascido de muito Baixo Peso , Análise Multivariada , Gravidez , Estudos Retrospectivos
10.
J Gynecol Obstet Biol Reprod (Paris) ; 45(6): 626-32, 2016 Jun.
Artigo em Francês | MEDLINE | ID: mdl-26321609

RESUMO

UNLABELLED: Intrapartum asphyxia is a rare yet serious complication during labor with immediate consequences and possible long-term neurological impairment. The international Cerebral Palsy Task Force established criteria that attribute a cerebral palsy to intrapartum asphyxia: metabolic acidemia measured at birth with pH<7 and base deficit≥12mmol/L. OBJECTIVE: To determine the risk factors of an intrapartum asphyxia occurring in term live births, to evaluate the short-term consequences. METHODS: Our retrospective study included all births between 2002 and 2010 in a level 3 maternity of a university hospital center. Inclusion criteria were those of the Cerebral Palsy Task Force associated with a gestational age≥34weeks of gestation. We studied the conventional markers of intrapartum asphyxia: Apgar score at 5minutes, abnormal cardiotogographic recordings whether they occurred after a sentinel hypoxic event or not before and during labor. The duration of expulsive efforts, the amniotic fluid aspects, the delivery mode as well as the preexisting pregnancy pathologies were also evaluated. On the other hand, we studied the short-term consequences at the newborns: death, multiorgan failure and especially the occurring of a neonatal encephalopathy using Sarnat and Sarnat staging. RESULTS: One hundred and twenty-nine newborns (0.43%) out of 29,416 live births had a pH<7 of whom only 82 (0.27%) presented a real intrapartum asphyxia and were included in this study. A preexisting pregnancy pathology was found in 22% of the women. Hypoxic events were noted in only 9/82 of the cases. Abnormal cardiotocographic recordings were present in 97.6% of the cases. The duration of expulsive efforts as well as the amniotic fluid aspects did not interfere with the occurring of a metabolic acidemia. Caesarean rate was at 46.3% and instrumental extraction rate was at 34.1%. Thity-eight newborns (46.3%) were admitted in neonatal intensive care in which we noted 3 deaths (3.65%), 2 multiorgan failures (2.4%) and 17 neonatal encephalopathy (20.7%). The pH value seemed to influence the occurring of an encephalopathy: 50% when pH<6.9 vs. 13.6% when pH≥6.9 (P=0.0013), as well as for the base deficit: 50% when BD<-18 vs. 15.7% when BD≥-18 (P=0.0068). Apgar score at 5minutes also seemed predictive for a neonatal encephalopathy: 100% when<4, 46% between 4 and 6 and 11% when>6 (P<0.001). CONCLUSIONS: Our results showed an intrapartum asphyxia rate half the one widely recorded of 0.5% of total live births. Our study also validates the commonly used markers to evaluate a high risk of an early neonatal encephalopathy. This study should be continued with the evaluation of hypoxia long-term consequences on the psychomotor development of these kids and especially the occurring of cerebral palsy.


Assuntos
Asfixia Neonatal/diagnóstico , Asfixia Neonatal/epidemiologia , Cesárea/estatística & dados numéricos , Extração Obstétrica/estatística & dados numéricos , Hipóxia-Isquemia Encefálica/diagnóstico , Hipóxia-Isquemia Encefálica/epidemiologia , Nascido Vivo , Complicações na Gravidez/epidemiologia , Adulto , Índice de Apgar , Biomarcadores , Feminino , França/epidemiologia , Humanos , Recém-Nascido , Gravidez , Estudos Retrospectivos , Fatores de Risco
11.
Arch Pediatr ; 23(8): 787-91, 2016 Aug.
Artigo em Francês | MEDLINE | ID: mdl-27345559

RESUMO

The aim of this study was to evaluate the impact on vaccination coverage of a protocol in which promotion and administration of pertussis vaccine in the maternity ward were proposed upon discharge from a French university hospital. Pertussis is a potentially fatal bacterial respiratory infection, especially in young infants. Since 2004 the High Council of Public Health has recommended vaccinating adults who may become parents. This recommendation is not widely applied in France. The study, organized as a professional practice evaluation (EPP) was conducted by a multidisciplinary team at Caen University Hospital. Thirty couples were included for each period. The primary endpoint was the rate of vaccination coverage for both parents at hospital discharge. Before the information campaign (first period, January 2012), immunization coverage of mothers and fathers was 20% and 13%, respectively. No couple had received a prescription for vaccines. During the second period (June 2013), vaccination coverage was 77% at hospital discharge for mothers and 57% for fathers. Parental immunization coverage against pertussis was multiplied by four to five during the study, which is very encouraging, and it is important to continue this campaign at the region and national levels.


Assuntos
Promoção da Saúde , Pais , Vacina contra Coqueluche , Vacinação/estatística & dados numéricos , Adulto , Feminino , França , Hospitais Universitários , Humanos , Recém-Nascido , Masculino , Avaliação de Programas e Projetos de Saúde
12.
Arch Mal Coeur Vaiss ; 98(5): 582-5, 2005 May.
Artigo em Francês | MEDLINE | ID: mdl-15966614

RESUMO

Acute myocarditis with Toxoplasma Gondii in immunocompetent patients is rare and the paediatric cases touch old children. These myocarditis lead sometimes cardiac insufficiency and sometimes mimic a myocardial infarction. The evolution is often favorable, even when there is no pest-destroying treatment. We report a case of myocarditis toxoplasma Gondii with which has occurred in a 11 month and half old infant, whose evolution was favorable with a symptomatic and pest-destroying treatment. The interest of this observation is related to the scarcity of acute myocarditis caused by toxplasmosis in infant without immunoinsufficiency.


Assuntos
Miocardite/etiologia , Miocardite/microbiologia , Toxoplasmose/complicações , Doença Aguda , Humanos , Lactente , Masculino , Toxoplasmose/tratamento farmacológico , Resultado do Tratamento
13.
Arch Pediatr ; 12 Suppl 1: S49-53, 2005 Apr.
Artigo em Francês | MEDLINE | ID: mdl-15893239

RESUMO

We report a case of Legionella pneumonia in an immunocompetent child. Legionella pneumonia is a rare pathology among children, and even rarer when they are immuno-competent; a few cases have been reported in the literature. This is explained by the fact that infection occurs primarily to immuno-suppressed patients. Legionella bacteria are not systematically sought for in front of child's atypical pneumonia, contrary to Mycoplasma or Chlamydiae. In addition, a number of cases are probably not even noticed because either not serious (Pontiac fever), spontaneously cured, or cured with macrolides prescribed in the case of suspected pneumonia with Mycoplasma.


Assuntos
Doença dos Legionários/patologia , Pneumonia/patologia , Antibacterianos/uso terapêutico , Pré-Escolar , Humanos , Doença dos Legionários/tratamento farmacológico , Macrolídeos/uso terapêutico , Masculino , Pneumonia/tratamento farmacológico
14.
Arch Pediatr ; 22(9): 974-7, 2015 Sep.
Artigo em Francês | MEDLINE | ID: mdl-26228803

RESUMO

Nager syndrome belongs to a heterogeneous group of disorders involving abnormal development of the extremities, face, and jaw: acrofacial dysostosis (AFD). Fewer than 100 cases of Nager syndrome have been reported to date. Recently, mutations in the 1q21.2 region of the SF3B4 gene (splicing factor 3B subunit 4), which encodes a spliceosomal protein (SAP49) involved in the assembly of the spliceosomal complex U2SNP, have been demonstrated in patients with Nager syndrome. We report the case of a child who had a characteristic association (Pierre Robin sequence, bilateral and symmetrical malar hypoplasia, absent thumbs) clinically diagnosed as Nager syndrome. This child also presented tetralogy of Fallot. This combination is unusual; only two other cases have been described. The karyotype and the CGH-array were normal. After the description in 2012 of several mutations in the SF3B4 gene (1q21.2) in Nager syndrome, a genetic search for our patient revealed the mutation c.1229delC. In 2013, other authors showed the presence of these same mutations in the majority of their patients diagnosed as Nager syndrome. The haploinsufficiency of the SF3B4 region seems to be the major cause of Nager syndrome.


Assuntos
Anormalidades Múltiplas/genética , Face/anormalidades , Disostose Mandibulofacial/complicações , Disostose Mandibulofacial/genética , Mutação , Proteínas de Ligação a RNA/genética , Tetralogia de Fallot/complicações , Tetralogia de Fallot/genética , Biomarcadores/sangue , Feminino , Humanos , Lactente , Fenótipo , Fatores de Processamento de RNA , Spliceossomos/genética
15.
Arch Pediatr ; 22(2): 185-90, 2015 Feb.
Artigo em Francês | MEDLINE | ID: mdl-25497366

RESUMO

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare neonatal pathology that combines refractory hypoxemia with severe pulmonary arterial hypertension, and leads to death every time. Histologic examination of lung tissue confirms the diagnosis and is characterized by a decreased number of pulmonary capillaries, immature lobular development, and abnormal proximity between pulmonary arteries and veins. This abnormal proximity is responsible for an arteriovenous shunt. We report five cases confirmed by postmortem histology, which occurred over 14 years in Lower Normandy (France). The cumulative incidence is therefore of 1.8 for 100,000 births. In these five cases, the first symptoms appeared during the first hour of life and death occurred before 24h in four of five cases. The patient with the longest survival had mild histological lesions and delayed emergence of the first symptoms. Genitourinary and gastrointestinal anomalies were associated with ACD/MPV in two cases, and bilateral pulmonary hypoplasia in three cases. Optimized invasive ventilation, pulmonary vasodilators, vasoactive drugs, and pulmonary surfactant did not improve survival. Extracorporeal membrane oxygenation (ECMO) was not used. We present a review of the literature on ACD/MPV, a clinical and histological entity little known to both clinicians and pathologists, whereas a premortem diagnosis is possible and genetic counseling in affected families can be suggested.


Assuntos
Cianose/etiologia , Síndrome da Persistência do Padrão de Circulação Fetal/complicações , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Masculino
16.
J Fr Ophtalmol ; 38(3): 193-8, 2015 Mar.
Artigo em Francês | MEDLINE | ID: mdl-25726252

RESUMO

PURPOSE: This study aimed at investigating serious side effects of the pupillary dilation protocol used in Caen University Hospital for the screening of retinopathy of prematurity. This protocol includes one drop of phenylephrine 5% and two drops of tropicamide 0.5% instilled at a 5-minute interval. PATIENTS AND METHODS: This retrospective study included all premature infants with a birth weight less than or equal to 1500 g and/or a gestational age less than or equal to 30 gestational weeks, hospitalized in the neonatal intensive care unit of Caen University Medical Center, having ocular fundus examinations for retinopathy of prematurity screening between 2009 and 2014. The medical records of patients who died or developed necrotizing enterocolitis were reviewed to analyze the imputability of the two eye drops used for pupil dilation. RESULTS: Five-hundred and twelve infants were included, corresponding to 1033 ocular fundus examinations. No case of death could be ascribed to the use of eye drops. Two cases of necrotizing enterocolitis could be ascribed to the use of tropicamide with a doubtful and plausible intrinsic imputability according to French imputability criteria. CONCLUSION: The pupillary dilation protocol used in Caen University Hospital for screening of retinopathy of prematurity might be implicated in two cases of necrotizing enterocolitis with an uncertain imputability of tropicamide 0.5% eye drops. No serious side effect could be ascribed to the use of phenylephrine 5% eye drops in this study.


Assuntos
Enterocolite Necrosante/induzido quimicamente , Recém-Nascido de muito Baixo Peso , Midriáticos/administração & dosagem , Midriáticos/efeitos adversos , Fenilefrina/administração & dosagem , Fenilefrina/efeitos adversos , Retinopatia da Prematuridade/diagnóstico , Tropicamida/administração & dosagem , Tropicamida/efeitos adversos , Relação Dose-Resposta a Droga , Esquema de Medicação , Quimioterapia Combinada , Feminino , França , Fundo de Olho , Humanos , Recém-Nascido , Masculino , Triagem Neonatal , Soluções Oftálmicas , Estudos Retrospectivos
17.
Biochem Pharmacol ; 52(12): 1915-9, 1996 Dec 24.
Artigo em Inglês | MEDLINE | ID: mdl-8951351

RESUMO

Caffeine metabolism by hepatic microsomal P450 enzymes is well documented in experimental animals and humans. However, its induction effect on P450 enzymes has not been thoroughly studied. In a preliminary experiment, the time-dependent incubation of 1 mM caffeine with rat hepatocyte culture resulted in an increase of its own metabolic rate. The dose-dependent expression of rat hepatic and renal cytochromes (CYP) 1A1/1A2 was then investigated after per os administration of caffeine. P450 expression was monitored by using specific enzymatic activities and Northern blot analysis. Caffeine caused a dose-dependent elevation of hepatic CYP1A1/1A2 activities in microsomal preparations, which ranged from 1.7- to 6-fold for ethoxyresorufin O-deethylase and 3- to 8.9-fold for methoxy-resorufin O-demethylase according to the dose regimen of 50 and 150 mg caffeine/kg/day for 3 days, respectively. Northern blot analysis demonstrated that caffeine treatment increased liver CYP1A1 and CYP1A2 mRNA levels over the dose regimen of 50-150 mg caffeine/kg/day for 3 days, respectively. The result of this study demonstrates that caffeine increases its own metabolism in a dose-dependent manner and induces CYP1A1/1A2 expression through either transcriptional activation or mRNA stabilization.


Assuntos
Citocromo P-450 CYP1A1/biossíntese , Citocromo P-450 CYP1A2/biossíntese , Animais , Células Cultivadas , Indução Enzimática/efeitos dos fármacos , Regulação Enzimológica da Expressão Gênica/efeitos dos fármacos , Rim/enzimologia , Masculino , Microssomos Hepáticos/enzimologia , RNA Mensageiro/genética , Ratos , Ratos Wistar
18.
J Clin Virol ; 13(3): 131-9, 1999 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10443789

RESUMO

BACKGROUND: A high frequency of virus infections has been recently pointed out in the exacerbations of asthma in children. OBJECTIVES: To confirm this, using conventional and molecular detection methods, and expanding the study to younger children. STUDY DESIGN: One hundred and thirty-two nasal aspirates from 75 children hospitalized for a severe attack of asthma were studied (32 infants, mean age 9.1 months; and 43 children, mean age 5.6 years). According to the virus, a viral isolation technique, immunofluorescence assays (IFA) or both were used for the detection of rhinovirus, enterovirus, respiratory syncytial (RS) virus, adenovirus, coronavirus 229E, influenza and parainfluenza virus. Polymerase chain reaction (PCR) assays were used for the detection of rhinovirus, enterovirus, RS virus, adenovirus, coronavirus 229E and OC43, Chlamydia pneumoniae and Mycoplasma pneumoniae. RESULTS: Using IFA and viral isolation techniques, viruses were detected in 33.3% of cases, and by PCR techniques, nucleic acid sequences of virus, Chlamydia pneumoniae and Mycoplasma pneumoniae were obtained in 71.9% of cases. The combination of conventional and molecular techniques detects 81.8% of positive samples. Two organisms were identified in the same nasal sample in 20.4% of the cases. The percentage of detections was higher (85.9%) in the younger group than in the other (77%). The most frequently detected agents were rhinovirus (46.9%) and RS virus (21.2%). Using PCR rather than conventional techniques, the detection rates were increased 5.8- and 1.6-fold in rhinovirus and RS virus infections, respectively. The detection levels of the other organisms are as follows: 9.8, 5.1, 4.5, 4.5, 4.5, 3.7, and 2.2% for enterovirus, influenza virus, Chlamydia pneumoniae, adenovirus, coronavirus, parainfluenza virus, and Mycoplasma pneumoniae, respectively. CONCLUSION: These results confirm the previously reported high frequency of rhinovirus detection in asthmatic exacerbations in children. They also point out the frequency of RS virus detection, and emphasize the fact that PCR assays may be necessary to diagnose respiratory infections in asthma.


Assuntos
Asma/complicações , Infecções por Chlamydia/complicações , Pneumonia por Mycoplasma/complicações , Infecções Respiratórias/complicações , Viroses/complicações , Vírus/isolamento & purificação , Adolescente , Asma/microbiologia , Asma/virologia , Criança , Pré-Escolar , Infecções por Chlamydia/diagnóstico , Infecções por Chlamydia/microbiologia , Chlamydophila pneumoniae/genética , Chlamydophila pneumoniae/isolamento & purificação , Imunofluorescência , Humanos , Lactente , Mycoplasma pneumoniae/genética , Mycoplasma pneumoniae/isolamento & purificação , Infecções por Picornaviridae/complicações , Infecções por Picornaviridae/diagnóstico , Infecções por Picornaviridae/virologia , Pneumonia por Mycoplasma/microbiologia , Reação em Cadeia da Polimerase/métodos , Infecções Respiratórias/diagnóstico , Viroses/diagnóstico , Viroses/virologia
19.
J Clin Pathol ; 44(12): 1029-30, 1991 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-1791205

RESUMO

The results of a study of a screening test for urinary tract infection (UTI) in infants under 18 months is reported. Two hundred and forty three urine specimens were tested in the laboratory using AMES Multistix 8SG reagent strips read by photometer. The strips included three potential markers for urinary tract infection: leucocyte esterase, nitrite, and protein. The predictive value of a positive result (PPV) was low. The predictive value of negative test (NPV) when combining the screen of leucocyte esterase, nitrite, and protein was 99.4% with no difference between boys and girls. The test for leucocyte esterase had a 97.6% negative predictive value. An examination of the results by age confirms the good NPV in all age groups. Paediatricians should find Multistix 8SG strips a useful aid in the diagnosis of urinary tract infection in infants, and that costly culture of samples with negative strip tests can be avoided.


Assuntos
Fitas Reagentes , Infecções Urinárias/urina , Humanos , Lactente , Recém-Nascido , Valor Preditivo dos Testes , Sensibilidade e Especificidade , Infecções Urinárias/diagnóstico
20.
Intensive Care Med ; 15(4): 279-82, 1989.
Artigo em Inglês | MEDLINE | ID: mdl-2501375

RESUMO

A computer program for parenteral and combined parenteral and enteral nutrition of children in intensive care unit is described. It acts as a guide for the prescribing physician by using informative messages, food composition tables and alarms when mistakes or uncommon prescription values are input from the keyboard.


Assuntos
Nutrição Enteral , Nutrição Parenteral Total , Terapia Assistida por Computador , Peso Corporal , Criança , Fenômenos Fisiológicos da Nutrição Infantil , Pré-Escolar , Cuidados Críticos , Humanos , Lactente , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Software
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