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1.
Rev Med Suisse ; 19(842): 1718-1721, 2023 Sep 20.
Artigo em Francês | MEDLINE | ID: mdl-37728267

RESUMO

The Nurse consultation (CI) was implemented in 2013 at the emergency department of the Lausanne Children's Hospital. It offers medical delegated care for children aged three to 18. Ten years after its implementation, this article takes stock of its progress. Patients and families are satisfied with the care provided at a rate of 94.3 %. The CI seems to offer quality and safe healthcare. It allows the emergency team to have more time and resources for patients whose lives are at risk or need careful assessment due to their age or medical history. The CI is an innovative and relevant model of care in the context of uncomplicated childhood illnesses.


La consultation infirmière (CI) a été mise en place en 2013 aux urgences de l'Hôpital de l'enfance de Lausanne (HEL). Elle propose une prise en charge sous délégation médicale d'enfants âgés de trois à 18 ans. Dix ans après son implantation, cet article fait le point. Les patients et familles sont satisfaits de la prise en charge à 94,3 %. La CI semble offrir des soins de qualité et sécuritaires. Elle permet à l'équipe des urgences d'avoir plus de temps et de moyens pour les patients dont le pronostic vital est engagé ou qui sont à risque au vu de leur âge ou leurs antécédents. La CI est un modèle innovant et pertinent de prise en charge dans un contexte de pathologies simples de pédiatrie.


Assuntos
Serviço Hospitalar de Emergência , Encaminhamento e Consulta , Criança , Humanos
3.
Swiss Med Wkly ; 152: w30124, 2022 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-35147399

RESUMO

BACKGROUND: The high off-label use of drugs in paediatric patients raises questions on the efficacy and safety when prescribing psychotropic drugs. In our studies, we aimed to characterise the use of psychotropic drugs in the paediatric service of a tertiary hospital and quantify the proportion of off-label prescriptions with respect to age, indication and dosage recommendations approved in Switzerland, France and the USA. METHODS: We conducted a retrospective cohort study (RCS) that included hospitalised patients from 1 December 2017, to 28 June 2018 with at least one PD prescription (n = 74) and a prospective cohort study (PCS) that included those hospitalised from 29 June 2018, to 30 November 2018 with at least one psychotropic drug prescription (n = 37). For both studies, we collected demographic, medical and medication data. Off-label prescriptions were identified by comparing the marketing authorisations published in the three selected countries. RESULTS: The average age of RCS and PCS patients were 13 ± 3 years and 14 ± 2 years, respectively. Of the 168 and 86 psychotropic prescriptions collected in the RCS and PCS, respectively, 70% and 71% prescriptions were off-label based on Swiss marketing authorisations. These rates declined when compared with French marketing authorisations (61% and 67% prescriptions) and were significantly lower when compared with American marketing authorisations (56% and 51% prescriptions). Psychotropic drugs were often prescribed as needed in both studies (53% and 43% of prescriptions), with only half of the patients actually receiving one of these prescribed psychotropic drugs. CONCLUSION: Our results showed a high proportion of off-label prescriptions of psychotropic drugs in a hospital setting. The off-label prescription rates according to Swiss marketing authorisations were the highest when compared with French and American marketing authorisations. Harmonisation of either international marketing authorisations or dosage recommendations at a national level could be a step forward to improved and evidence-based use of psychotropic drugs in children and adolescents.


Assuntos
Uso Off-Label , Psicotrópicos , Adolescente , Criança , Prescrições de Medicamentos , Humanos , Estudos Prospectivos , Psicotrópicos/uso terapêutico , Estudos Retrospectivos , Suíça
4.
Eur J Pediatr ; 180(4): 1125-1131, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33089387

RESUMO

Lactic acidosis is a common complication of status asthmaticus in adults. However, data is sparse in children. The aim of this study was to describe the prevalence and risk factors for lactic acidosis in children hospitalised for acute moderate or severe asthma. A total of 154 children 2-17 years of age were enrolled in a prospective observational study conducted in a tertiary hospital. All had capillary blood gas assessment 4 h after the first dose of salbutamol in hospital. The primary endpoint was the prevalence of lactic acidosis. Potential contributing factors such as age, sex, BMI, initial degree of asthma severity, type of salbutamol administration (nebuliser or inhaler), steroids, ipratropium bromide, and glucose-containing maintenance fluid represented secondary endpoints. All in all, 87% of patients had hyperlactatemia (lactate concentration > 2.2 mmol/l). Lactic acidosis (lactate concentration > 5 mmol/l and anion gap ≥ 16 mmol/l) was observed in 26%. In multivariate analysis, age more than 6 years (OR = 2.8, 95% CI 1.2-6.6), glycemia above 11 mmol/l (OR = 3.2 95% CI 1.4-7.4), and salbutamol administered by nebuliser (OR = 10, 95% CI 2.7-47) were identified as risk factors for lactic acidosis in children with moderate or severe asthma.Conclusion: Lactic acidosis is a frequent and early complication of acute moderate or severe asthma in children. What is Known: • Lactic acidosis during acute asthma is associated with b2-mimetics administration. • Salbutamol-related lactic acidosis is self-limited but important to recognise, as compensatory hyperventilation of lactic acidosis can be mistaken for respiratory worsening and lead to inappropriate supplemental bronchodilator administration. What is New: • Lactic acidosis is a frequent complication of acute asthma in the paediatric population. • Age older than 6 years, hyperglycaemia, and nebulised salbutamol are risk factors for lactic acidosis during asthma.


Assuntos
Acidose Láctica , Asma , Acidose Láctica/induzido quimicamente , Acidose Láctica/epidemiologia , Adolescente , Albuterol , Asma/complicações , Asma/epidemiologia , Criança , Pré-Escolar , Humanos , Prevalência , Fatores de Risco
5.
J Asthma ; 58(2): 190-196, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-31566459

RESUMO

Introduction: Correct technique with a pressurized metered-dose inhaler (pMDI) equipped with a valved holding chamber (VHC) or spacer provides an important advantage for adequate control of asthma and virus-induced wheezing in young children. The aim of this study was to assess the ability and knowledge of physicians and nurses to use a pMDI with a masked VHC in two pediatric emergency units.Methods: Study design: Two-center observational study. Inhaler use technique was assessed in 50 physicians and 50 nurses using a child mannequin and a validated videotaped nine-step scoring method. The participants' knowledge was evaluated by a questionnaire.Results: The inhalation technique was perfectly mastered by 49% of the study participants and almost perfectly mastered by another 34% (mean score 8.3 ± 0.7; range 5-9). Nurses were more likely than doctors to demonstrate the technique perfectly (66% vs. 32%, p < 0.05). The two most common errors were forgetting to shake the pMDI between two consecutive puffs (38% of the participants) and putting the patient in an incorrect position (11%). About half of the participants reported that they checked each patient's inhalation technique at every opportunity and knew how to clean the VHC. A large majority did not employ a reliable method to determine the amount of medication remaining in pMDIs without a counter.Conclusion: Healthcare professionals' practical skills and knowledge on inhalation therapy were not completely mastered and could be improved with a mandatory training program.


Assuntos
Asma/tratamento farmacológico , Conhecimentos, Atitudes e Prática em Saúde , Hospitais Pediátricos , Inaladores Dosimetrados , Enfermeiras e Enfermeiros/normas , Médicos/normas , Administração por Inalação , Adulto , Serviço Hospitalar de Emergência , Feminino , Humanos , Espaçadores de Inalação , Masculino , Manequins , Pessoa de Meia-Idade
7.
Cochrane Database Syst Rev ; 6: CD012431, 2020 06 04.
Artigo em Inglês | MEDLINE | ID: mdl-32497279

RESUMO

BACKGROUND: Sore throat is a common condition caused by viruses or bacteria, and is a leading cause of antibiotic prescription in primary care. The most common bacterial species is group A streptococcus ('strep throat'). Between 50% to 70% of pharyngitis cases are treated with antibiotics, despite the majority of cases being viral in origin. One strategy to reduce antibiotics is to use rapid tests for group A streptococcus to guide antibiotic prescriptions. Rapid tests can be used alone or in combination with a clinical scoring system. OBJECTIVES: To assess the efficacy and safety of strategies based on rapid tests to guide antibiotic prescriptions for sore throat in primary care settings. SEARCH METHODS: We searched CENTRAL, MEDLINE, Embase, CINAHL, Web of Science, and LILACS, as well as the trial registries ClinicalTrials.gov and the WHO ICTRP on 5 June 2019. SELECTION CRITERIA: We included randomised controlled trials (RCTs) comparing rapid tests with management based on clinical grounds to guide the prescription of antibiotics for people with a sore throat in ambulatory care settings. We included trials that randomised individuals, as well as cluster-RCTs in which individual practitioners (or practices) or emergency departments were randomised. DATA COLLECTION AND ANALYSIS: Two review authors independently extracted data on the primary outcomes (number of participants provided with an antibiotic prescription; number of participants with an antibiotic dispensed) and secondary outcomes (duration of sore throat symptoms; duration of other symptoms; quality of life measures; number of participants with a complication attributed to the index infection; number of participants in need of re-consultation by the end of follow-up; number of participants in need of hospital admission by the end of follow-up; number of satisfied participants; number of participants with an adverse event attributed to the rapid test). We assessed the risk of bias of all included trials and used GRADE to assess the certainty of the evidence. We performed meta-analyses and sensitivity analyses when feasible. MAIN RESULTS: We included five trials (2891 children and adult participants in total; 2545 participants after adjusting for clustering). Management in the intervention group was as follows: in three trials rapid tests were used in combination with a clinical scoring system; in one trial, some physicians were asked to use rapid tests alone, while others were asked to use rapid tests in combination with a clinical scoring system; in one trial, rapid tests were used alone. Based on data from five trials (2545 participants), a large reduction in prescribed antibiotics was found in the rapid test group (481/1197) versus management based on clinical grounds (865/1348), for a summary risk difference (RD) of -25%, 95% confidence interval (CI) -31% to -18%; I2 = 62%; moderate-certainty evidence. Estimates of effect on antibiotic prescription rates were stable in various sensitivity analyses. Based on data from two trials (900 people) originating from the same overarching study, the evidence suggests that rapid tests may not reduce dispensed antibiotic treatments: rapid test group (156/445) versus management based on clinical grounds (197/455); summary RD -7%, 95% CI -17% to 2%; I2 = 53%; low-certainty evidence. Four trials (2075 participants) reported data on the number of participants with a complication attributed to the index infection; the summary odds ratio (OR) was 0.85, 95% CI 0.03 to 26.65; P = 0.93; I2 = 62%; very low-certainty evidence, which means that people in the rapid testing group were less likely to develop complications of the index infection, but the evidence is very uncertain. Two trials (1161 participants) reported on the number of participants in need of re-consultation by the end of follow-up; the summary OR was 1.12, 95% CI 0.57 to 2.21; P = 0.74; I2 = 59%; low-certainty evidence, which means that participants in the rapid testing group were more likely to be in need of re-consultation by the end of the study follow-up, but the evidence is uncertain. Lack of data impeded assessment of other secondary outcomes (including safety outcomes) and of sources of heterogeneity.  AUTHORS' CONCLUSIONS: Rapid testing to guide antibiotic treatment for sore throat in primary care probably reduces antibiotic prescription rates by 25% (absolute risk difference), but may have little or no impact on antibiotic dispensing. More studies are needed to assess the efficacy and safety of rapid test-guided antibiotic prescribing, notably to evaluate patient-centred outcomes and variability across subgroups (e.g. adults versus children).


Assuntos
Antibacterianos/uso terapêutico , Faringite/tratamento farmacológico , Faringite/microbiologia , Infecções Estreptocócicas/diagnóstico , Streptococcus pyogenes/isolamento & purificação , Adulto , Técnicas Bacteriológicas , Criança , Prescrições de Medicamentos/estatística & dados numéricos , Feminino , Humanos , Masculino , Faringite/virologia , Ensaios Clínicos Controlados Aleatórios como Assunto , Infecções Estreptocócicas/microbiologia
8.
Arch Dis Child ; 105(3): 236-240, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31488402

RESUMO

OBJECTIVES: To investigate whether nebulised hypertonic saline (HS) treatment would decrease length of hospital stay (LOS) among infants with moderate-to severe-bronchiolitis compared with standard supportive care (SC). METHODS: We conducted an open, multicentre, randomised clinical trial from 1 April 2013 to 31 March 2016, in Swiss children's hospitals. Patients aged 6 weeks to 24 months with a primary diagnosis of moderate or severe bronchiolitis were included. Children with previous episodes of wheezing, cardiac disease, chronic respiratory disease, immunodeficiency, prematurity (gestational age <34 weeks), corticotherapy in the preceding 2 weeks or inhaled bronchodilators within 24 hours before presentation were excluded. Patients were randomised to receive standard SC with nebulisation of 4 mL of 3% sodium chloride every 6 hours versus SSC. Main outcomes and measures were LOS duration of oxygen therapy, transfer to intensive care unit (ICU), readmission within 7 days following discharge and adverse events. RESULTS: 121 children were randomised. No statistically significant differences were found between treatment groups at baseline (age, Wang Score, atopic history, smoking exposure). Children in the HS group had a non-significant difference in length of stay -2.8 hours (-10; 16) compared with the SC group. There were no differences in oxygen therapy duration, transfer to ICU, readmission rate or adverse events. The intervention was discontinued at the parents' request in 16% of the cases. CONCLUSION: Our study does not support the use of HS nebulisation in children with moderate to severe bronchiolitis. TRIAL REGISTRATION NUMBER: NCT01812525.


Assuntos
Anti-Inflamatórios/administração & dosagem , Bronquiolite/tratamento farmacológico , Solução Salina Hipertônica/administração & dosagem , Administração por Inalação , Cuidados Críticos/estatística & dados numéricos , Feminino , Humanos , Lactente , Tempo de Internação/estatística & dados numéricos , Masculino , Nebulizadores e Vaporizadores , Oxigenoterapia , Estudos Prospectivos , Resultado do Tratamento
9.
Paediatr Int Child Health ; 38(2): 113-120, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29105576

RESUMO

BACKGROUND: Hypoxaemia is a predictor of pneumonia-related mortality. WHO published recommendations for oxygen therapy based on clinical signs which state that, when oxygen is plentiful, it should be given to children with central cyanosis, inability to drink, severe chest indrawing, RR >70 breaths/min, grunting with every breath (in young infants) or those who display head nodding. These guidelines, however, are based on a few studies only. AIM: To assess the accuracy of combinations of clinical signs which predict hypoxaemia in pre-school children aged 2 months to 5 years with acute respiratory distress in hospitals in Switzerland and Senegal. METHODS: This observational study was conducted in four emergency units, two in Switzerland and two in Senegal. Patients aged 2 months to 5 years with acute respiratory distress were eligible for inclusion. Clinical signs were compared with transcutaneous blood saturation levels (SaO2). RESULTS: About 111 children were assessed, 67 in Switzerland and 44 in Senegal. The prevalence of hypoxaemia was 13%. Twelve models of combined symptoms were analysed. The WHO model, for when oxygen supply is ample, had the highest diagnostic performance with a sensitivity of 0.93 and a specificity of 0.60. CONCLUSIONS: Clinical signs alone are unreliable for the detection of hypoxaemia. The current WHO model, for ample oxygen supply proved to be the best clinical predictor, although a great number of non-hypoxaemic children were unnecessarily treated because of the low specificity of this model.


Assuntos
Hipóxia/diagnóstico , Hipóxia/patologia , Síndrome do Desconforto Respiratório/complicações , Monitorização Transcutânea dos Gases Sanguíneos , Pré-Escolar , Hospitais , Humanos , Hipóxia/epidemiologia , Hipóxia/terapia , Lactente , Oxigenoterapia , Prevalência , Senegal , Sensibilidade e Especificidade , Inquéritos e Questionários , Suíça
10.
Rev Med Suisse ; 13(544-545): 92-95, 2017 Jan 11.
Artigo em Francês | MEDLINE | ID: mdl-28703546

RESUMO

Nutrition is central in pediatric care : essential for growth and development, it plays also a role in the prevention of many diseases.Even if breastfeeding is highly recommended, its implementation may be difficult in particular for premature and ill newborns. The creation of a specific unit for breastfeeding support in neonatology allows to help mothers willing to nurse and to improve the rate of breastfeeding for these vulnerable infants.Eating disorders represent an important challenge for patient care. Early detection and rapid management of anorexia is essential for the prognosis. This article describes the challenges and the practical process underlying the development of a practical guideline to manage children and adolescents hospitalized for anorexia.


La nutrition est un thème central en pédiatrie : essentielle pour la croissance et le développement de l'enfant, elle joue également un rôle dans la prévention de nombreuses maladies.Bien que fortement recommandée, la mise en place de l'allaitement peut être difficile en particulier chez les nouveau-nés prématurés ou malades. La création d'une unité de soutien à l'allaitement en néonatologie a permis d'offrir un soutien aux mères souhaitant allaiter et d'améliorer le taux de lactation. Les troubles du comportement alimentaire représentent un important challenge de prise en charge. Une détection et une prise en charge rapide de l'anorexie sont essentielles pour le pronostic. Cet article décrit les enjeux et le processus parcouru pour élaborer un guide de prise en charge des enfants et adolescent(e)s hospitalisé(e)s pour une anorexie.


Assuntos
Pediatria/tendências , Adolescente , Anorexia/epidemiologia , Anorexia/terapia , Aleitamento Materno/métodos , Aleitamento Materno/psicologia , Criança , Criança Hospitalizada , Feminino , Humanos , Recém-Nascido , Mães , Pediatria/métodos , Gravidez
11.
Arch Dis Child ; 102(9): 804-808, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28408468

RESUMO

BACKGROUND AND OBJECTIVE: Urinary tract infection (UTI) represents the most common bacterial infection in infants, and its prevalence increases with the presence of high-grade vesicoureteral reflux (VUR). However, voiding cystourethrography (VCUG) is invasive, and its indication in infants <3 months is not yet defined. This study aims to investigate, in infants aged 0-3 months, if the presence of Escherichia coli versus non-E. coli bacteria and/or normal or abnormal renal ultrasound (US) could avoid the use of VCUG. METHOD: One hundred and twenty-two infants with a first febrile UTI were enrolled. High-grade VUR was defined by the presence of VUR grade ≥III. The presence of high-grade VUR was recorded using VCUG, and correlated with the presence of E. coli/non-E. coli UTI and with the presence of normal/abnormal renal US. The Bayes theorem was used to calculate pretest and post-test probability. RESULTS: The probability of high-grade VUR was 3% in the presence of urinary E. coli infection. Adding a normal renal US finding decreased this probability to 1%. However, in the presence of non-E. coli bacteria, the probability of high-grade VUR was 26%, and adding an abnormal US finding increased further this probability to 55%. CONCLUSIONS: In infants aged 0-3 months with a first febrile UTI, the presence of E. coli and normal renal US findings allow to safely avoid VCUG. Performing VCUG only in infants with UTI secondary to non-E. coli bacteria and/or abnormal US would save many unnecessary invasive procedures, limit radiation exposure, with a very low risk (<1%) of missing a high-grade VUR.


Assuntos
Infecções por Escherichia coli/etiologia , Rim/diagnóstico por imagem , Infecções Urinárias/etiologia , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/diagnóstico , Fatores Etários , Algoritmos , Bacteriúria/diagnóstico , Bacteriúria/microbiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Ultrassonografia , Procedimentos Desnecessários , Bexiga Urinária/diagnóstico por imagem , Infecções Urinárias/microbiologia , Micção , Urografia
12.
Pediatr Emerg Care ; 32(4): 256-61, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26855342

RESUMO

OBJECTIVES: This study aimed to identify, through systematic literature review, the most reliable clinical, biological, and radiological signs of ovarian torsion in the pediatric population and to compare their diagnostic value. METHODS: This is a systematic review of the literature, searching MEDLINE, EMBASE, and Cochrane Databases for articles published between January 1990 and January 2014. RESULTS: From the 946 references initially identified, 14 retrospective publications fulfilled the inclusion criteria, involving a total of 663 episodes of ovarian torsion. Sudden onset abdominal pain with nausea and/or vomiting is the most frequent symptom of ovarian torsion. It can occur at any age, not only in menarchal or perimenarchal patients. Abdominal tenderness is present in 88.4% of patients, whereas only 24% have a palpable mass. Blood tests are commonly requested (51.4% of cases) but are not diagnostic. Abnormalities on plain abdominal radiograph include masses, calcifications, and ossified images. Ultrasound has a sensitivity for ovarian torsion of 79% and computerized tomographic scan of 42.2%. There is a significant diagnostic delay at 101.8 hours (median). CONCLUSIONS: Abdominal pain in children and adolescents is difficult to evaluate, and the diagnosis of ovarian torsion remains a challenge. Because of its potential complications, we need effective clinical tools. From our review of the literature, it was not possible to develop a diagnostic algorithm. Further research is needed to improve our practice and shorten the delay to diagnosis. Considering the low incidence of ovarian torsion, a multicenter prospective study would be required.


Assuntos
Doenças Ovarianas/diagnóstico , Anormalidade Torcional/diagnóstico , Dor Abdominal/etiologia , Adolescente , Criança , Pré-Escolar , Gerenciamento Clínico , Feminino , Humanos , Lactente , Recém-Nascido , Doenças Ovarianas/terapia , Anormalidade Torcional/terapia
13.
Swiss Med Wkly ; 144: w14065, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25535735

RESUMO

QUESTIONS UNDER STUDY: Iron deficiency with or without anaemia is the most common deficiency in the world. Its prevalence is higher in developing countries and in low socioeconomic populations. We aimed at determining and comparing the prevalence of iron deficiency in an immigrant and non-immigrant population. METHODS: Every child scheduled for a routine check-up at 12 months of age was allowed to participate in the study. Haemoglobin, ferritin, anthropometric data, familial and nutritional status were measured. RESULTS: 586 infants were eligible and 463 were included in the study as they had assessment data at 12 months. Children were divided into two groups: immigrants' children and non-immigrants' children. The global prevalence of iron deficiency was 5.7% at 12 months. A significant difference for iron deficiency was noticed between the groups at 12 months (p = 0.01). Among risk factors, immigration (odds ratio 2.91; 95% CI 1.05-8.04) and unemployment (odds ratio 6.08; 95% CI 1.18-31.30) had the higher odds in the multivariable analysis. CONCLUSION: The prevalence of iron deficiency in the immigrant population is higher than in non-immigrants. Immigration and the category of employment are risk factors for iron deficiency, as starting baby cereals before 9 months is a protective factor. Good socioeconomic conditions in Switzerland, the quality of food for pregnant women and young infants may be the explanation. A study up to five years of age is necessary before drawing general conclusions on infancy.


Assuntos
Anemia Ferropriva/sangue , Anemia Ferropriva/etnologia , Emigrantes e Imigrantes/estatística & dados numéricos , Deficiências de Ferro , Aleitamento Materno/estatística & dados numéricos , Emigração e Imigração , Feminino , Ferritinas/sangue , Alimentos , Hemoglobinas/análise , Humanos , Lactente , Masculino , Estado Nutricional , Prevalência , Estudos Prospectivos , Fatores de Risco , Suíça/epidemiologia , Desemprego
14.
Rev Med Suisse ; 10(412-413): 114-5, 2014 Jan 15.
Artigo em Francês | MEDLINE | ID: mdl-24558913

RESUMO

Treatment of pediatric fever is based on two main molecules, paracetamol and ibuprofen. Fever should be treated when associated with discomfort. The two molecules have almost similar efficacy and safety. Monotherapy should be preferred to a combined or alternating treatment. Antipyretics do not seem to prevent febrile seizures.


Assuntos
Prática Clínica Baseada em Evidências/tendências , Febre/terapia , Acetaminofen/administração & dosagem , Criança , Prática Clínica Baseada em Evidências/normas , Humanos , Ibuprofeno/administração & dosagem , Convulsões Febris/prevenção & controle
15.
Mol Genet Metab ; 92(1-2): 104-8, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17604671

RESUMO

Complex I deficiency is a frequent cause of mitochondrial disease as it accounts for one third of these disorders. By genotyping several putative disease loci using microsatellite markers we were able to describe a new NDUFS7 mutation in a consanguineous family with Leigh syndrome and isolated complex I deficiency. This mutation lies in the first intron of the NDUFS7 gene (c.17-1167 C>G) and creates a strong donor splice site resulting in the generation of a cryptic exon. This mutation is predicted to result in a shortened mutant protein of 41 instead of 213 amino acids containing only the first five amino acids of the normal protein. Analysis of the assembly state of the respiratory chain complexes under native condition revealed a marked decrease of fully assembled complex I while the quantity of the other complexes was not altered. These results report the first intronic NDUFS7 gene mutation and demonstrate the crucial role of NDUFS7 in the biogenesis of complex I.


Assuntos
Complexo I de Transporte de Elétrons/genética , Éxons/genética , Doença de Leigh/genética , Mitocôndrias/metabolismo , Mutação/genética , NADH Desidrogenase/genética , Sequência de Aminoácidos , Sequência de Bases , Análise Mutacional de DNA , Complexo I de Transporte de Elétrons/deficiência , Feminino , Humanos , Lactente , Íntrons/genética , Doença de Leigh/metabolismo , Doença de Leigh/patologia , Masculino , Mitocôndrias/genética , Dados de Sequência Molecular , Linhagem , Splicing de RNA
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