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1.
J Autism Dev Disord ; 51(1): 30-44, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32347469

RESUMO

The early recognition of ASD in adults is challenging, in particular due to the lack of appropriate and robust diagnostic tools. We performed a psychometric validation and diagnostic accuracy study of the French version of the RAADS-R on a sample of 305 adults: 105 with ASD without ID, 99 with psychiatric disorders, and 103 non-psychiatric control groups. The French version of the RAADS-R demonstrates good reliability and diagnostic validity, suggesting that it can help clinicians during the diagnostic process in adults with ASD without ID. However, the finding that a two-factor structure better fits the results requires further validation. This study point out the need of further study of RAADS in psychiatric disorders group due to the relatively high false positive rate (55.6%) of ASD.


Assuntos
Síndrome de Asperger/diagnóstico , Síndrome de Asperger/psicologia , Transtorno Autístico/diagnóstico , Transtorno Autístico/psicologia , Psicometria/normas , Tradução , Adolescente , Adulto , Idoso , Síndrome de Asperger/epidemiologia , Transtorno Autístico/epidemiologia , Estudos Transversais , Feminino , França/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Psicometria/métodos , Reprodutibilidade dos Testes , Adulto Jovem
2.
BMJ Open ; 10(10): e036718, 2020 10 07.
Artigo em Inglês | MEDLINE | ID: mdl-33033014

RESUMO

INTRODUCTION: Tracheal intubation is one of the most daily practiced procedures performed in intensive care unit (ICU). It is associated with severe life-threatening complications, which can lead to intubation-related cardiac arrest. Using a preshaped endotracheal tube plus stylet may have potential advantages over endotracheal tube without stylet. The stylet is a rigid but malleable introducer which fits inside the endotracheal tube and allows for manipulation of the tube shape; to facilitate passage of the tube through the laryngeal inlet. However, some complications from stylets have been reported including mucosal bleeding, perforation of the trachea or oesophagus and sore throat. The use of a stylet for first-attempt intubation has never been assessed in ICU and benefit remains to be established. METHODS AND ANALYSIS: The endotracheal tube plus stylet to increase first-attempt success during orotracheal intubation compared with endotracheal tube alone in ICU patients (STYLETO) trial is an investigator-initiated, multicentre, stratified, parallel-group unblinded trial with an electronic system-based randomisation. Patients will be randomly assigned to undergo the initial intubation attempt with endotracheal tube alone (ie,without stylet, control group) or endotracheal tube + stylet (experimental group). The primary outcome is the proportion of patients with successful first-attempt orotracheal intubation. The single, prespecified, secondary outcome is the incidence of complications related to intubation, in the hour following intubation. Other outcomes analysed will include safety, exploratory procedural and clinical outcomes. ETHICS AND DISSEMINATION: The study project has been approved by the appropriate ethics committee 'Comité-de-Protection-des-Personnes Nord-Ouest3-19.04.26.65808 Cat2 RECHMPL19_0216/STYLETO2019-A01180-57'". Informed consent is required. The results will be submitted for publication in a peer-reviewed journal and presented at one or more scientific conferences. If combined use of endotracheal tube plus stylet facilitates tracheal intubation of ICU patients compared with endotracheal tube alone, its use will become standard practice, thereby decreasing first-attempt intubation failure rates and, potentially, the frequency of intubation-related complications. TRIAL REGISTRATION DETAILS: ClinicalTrials.gov Identifier: NCT04079387; Pre-results.


Assuntos
Estado Terminal , Laringe , Humanos , Unidades de Terapia Intensiva , Intubação Intratraqueal/efeitos adversos , Estudos Multicêntricos como Assunto , Ensaios Clínicos Controlados Aleatórios como Assunto , Traqueia
3.
Oxid Med Cell Longev ; 2019: 5496346, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31178967

RESUMO

BACKGROUND: Skeletal muscle dysfunction in patients with chronic obstructive pulmonary disease (COPD) is not fully reversed by exercise training. Antioxidants are critical for muscle homeostasis and adaptation to training. However, COPD patients experience antioxidant deficits that worsen after training and might impact their muscle response to training. Nutritional antioxidant supplementation in combination with pulmonary rehabilitation (PR) would further improve muscle function, oxidative stress, and PR outcomes in COPD patients. METHODS: Sixty-four COPD patients admitted to inpatient PR were randomized to receive 28 days of oral antioxidant supplementation targeting the previously observed deficits (PR antioxidant group; α-tocopherol: 30 mg/day, ascorbate: 180 mg/day, zinc gluconate: 15 mg/day, selenomethionine: 50 µg/day) or placebo (PR placebo group). PR consisted of 24 sessions of moderate-intensity exercise training. Changes in muscle endurance (primary outcome), oxidative stress, and PR outcomes were assessed. RESULTS: Eighty-one percent of the patients (FEV1 = 58.9 ± 20.0%pred) showed at least one nutritional antioxidant deficit. Training improved muscle endurance in the PR placebo group (+37.4 ± 45.1%, p < 0.001), without additional increase in the PR antioxidant group (-6.6 ± 11.3%; p = 0.56). Nevertheless, supplementation increased the α-tocopherol/γ-tocopherol ratio and selenium (+58 ± 20%, p < 0.001, and +16 ± 5%, p < 0.01, respectively), muscle strength (+11 ± 3%, p < 0.001), and serum total proteins (+7 ± 2%, p < 0.001), and it tended to increase the type I fiber proportion (+32 ± 17%, p = 0.07). The prevalence of muscle weakness decreased in the PR antioxidant group only, from 30.0 to 10.7% (p < 0.05). CONCLUSIONS: While the primary outcome was not significantly improved, COPD patients demonstrate significant improvements of secondary outcomes (muscle strength and other training-refractory outcomes), suggesting a potential "add-on" effect of the nutritional antioxidant supplementation (vitamins C and E, zinc, and selenium) during PR. This trial is registered with NCT01942889.


Assuntos
Suplementos Nutricionais/análise , Pulmão/fisiopatologia , Músculo Esquelético/efeitos dos fármacos , Doença Pulmonar Obstrutiva Crônica/tratamento farmacológico , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
4.
Psychooncology ; 28(8): 1679-1686, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31152683

RESUMO

OBJECTIVE: Intrafamilial disclosure of hereditary cancer predisposition in BRCA1/2 and mismatch repair gene (MMR) syndromes allows appropriate prevention strategies in at-risk relatives. We previously showed in a nationwide study that the uptake of genetic targeted testing (GTT) in these families was only 30%. We aimed to identify the clinical and psychosocial factors affecting the probands' intrafamilial disclosure and relatives' uptake of GTT in BRCA1/2 or MMR syndromes. METHODS: We assessed clinical variables, family history, and psychosocial variables of probands (depressive symptoms, anxiety, alexithymia, optimism, coping, family relationship, perception of cancer risks, and of hereditary transmission), together with disclosure and uptake of GTT within 103 French BRCA1/2 or MMR families. RESULTS: Among relatives eligible for GTT, 68% were informed of the predisposition, and 37% underwent GTT, according to probands' reports. Intrafamilial disclosure was inversely associated with the degree of kinship (P < .01). In multivariable analysis, disclosure increased with time since probands' genetic diagnosis (P < .01) and probands' feeling of family cohesion (0.01). GTT uptake increased with probands' depressive symptoms (0.02) and decreased with probands' perception of cancer risks (0.03). BRCA1/2 and MMR groups did not differ concerning family information and GTT uptake. CONCLUSIONS: This study identified factors affecting disclosure to relatives and GTT uptake in BRCA1/2 and MMR syndromes and gives new insights to improve probands' follow-up and intrafamilial sharing of genetic information.


Assuntos
Proteína BRCA1 , Proteína BRCA2 , Reparo de Erro de Pareamento de DNA/genética , Revelação , Família , Predisposição Genética para Doença , Testes Genéticos , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação
5.
Int J Cardiol ; 285: 86-92, 2019 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-30857849

RESUMO

BACKGROUND: Impaired pulmonary function is an independent predictor of mortality in adult congenital heart disease (CHD), but has been scarcely studied in the paediatric CHD population. AIMS: To compare the pulmonary function of children with CHD to healthy controls, and evaluate its association with clinical outcomes, exercise capacity, and quality of life. METHODS: Cross-sectional multicentre study among 834 children (555 CHD and 279 control subjects) who underwent a complete spirometry and a cardiopulmonary exercise test (CPET). The 5th centile (Z-score = -1.64) was used to define the lower limit of normal. The association of clinical and CPET variables with spirometry was studied using a multivariate analysis. Children and their parents filled in the Kidscreen health-related quality of life questionnaire. RESULTS: Forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1) Z-scores values were lower in children with CHD than controls (-0.4 ±â€¯1.5 vs. 0.4 ±â€¯1.3, P < 0.001 and -0.5 ±â€¯1.4 vs. 0.4 ±â€¯1.2, P < 0.001, respectively), without any obstructive airway disorder. Restrictive pattern was more frequent in CHD patients than in controls (20% vs. 4%, P < 0.0001). FVC Z-scores were predominantly impaired in complex CHD, such as heterotaxy (-1.1 ±â€¯0.6), single ventricle (-1.0 ±â€¯0.2), and complex anomalies of the ventricular outflow tracts (-0.9 ±â€¯0.1). In multivariate analysis, FVC was associated with age, body mass index, peak oxygen uptake, genetic anomalies, the number of cardiac surgery and cardiac catheter procedures. FVC and FEV1 correlated with self and proxy-related quality of life scores. CONCLUSION: These results suggest that pulmonary function should be monitored early in life, from childhood, in the CHD population. TRIAL REGISTRATION NUMBER: NCT01202916, post-results.


Assuntos
Teste de Esforço/métodos , Tolerância ao Exercício/fisiologia , Volume Expiratório Forçado/fisiologia , Cardiopatias Congênitas/fisiopatologia , Pulmão/fisiopatologia , Qualidade de Vida , Capacidade Vital/fisiologia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/psicologia , Humanos , Masculino , Consumo de Oxigênio , Estudos Retrospectivos
6.
Fertil Steril ; 111(5): 1020-1029.e2, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30922647

RESUMO

OBJECTIVE: To evaluate the potentially protective effects of oral contraceptives (OC) on bone loss in a large population of young women with anorexia nervosa (AN). DESIGN: Cross-sectional study. SETTING: University hospital. PATIENT(S): Three hundred and five patients with AN (99 of them using OC) and 121 age-matched controls. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Areal bone mineral density (aBMD) evaluated by dual-energy X-ray absorptiometry and bone turnover markers, with leptin evaluated concomitantly. RESULT(S): Although the AN patients taking OC presented lower aBMD compared with the controls at all bone sites, the whole body excepted, their aBMD values were systematically higher than those of AN patients who were not taking OC for the whole body and the lumbar spine, femoral neck, hip, and radius. These differences persisted after multiple adjustments. Preservation of aBMD improved with longer durations of OC use and shorter delays between disease onset and the start of OC. Moreover, patients with the lowest body mass index showed the best bone tissue responses to OC. Bone formation markers were systematically lower in the two groups of patients with AN compared with the controls. The markers of bone resorption were normalized in AN patients using OC. CONCLUSION(S): Although OC use does not provide total protection of aBMD, our data suggest that OC might be prescribed for young women with AN to limit their bone loss.


Assuntos
Anorexia Nervosa/tratamento farmacológico , Anorexia Nervosa/epidemiologia , Densidade Óssea/efeitos dos fármacos , Reabsorção Óssea/epidemiologia , Reabsorção Óssea/prevenção & controle , Anticoncepcionais Orais/administração & dosagem , Adolescente , Adulto , Anorexia Nervosa/diagnóstico , Densidade Óssea/fisiologia , Reabsorção Óssea/diagnóstico , Estudos de Casos e Controles , Estudos Transversais , Feminino , Humanos , Adulto Jovem
7.
Ann Intensive Care ; 9(1): 15, 2019 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-30671679

RESUMO

BACKGROUND: Impaired nutritional status is adversely associated with suboptimal outcomes in critically ill children. Undernutrition at pediatric intensive care unit (PICU) admission ranges from 15 to 65%. A lack of knowledge of the nutritional status of children in French PICUs prevents us from specifically targeting education. This study aims to describe the nutritional status of children in French PICUs and to assess nutritional practices and physicians' knowledge of nutrition, in order to focus NutriSIP (the French-speaking PICU nutrition group) future education programs. A prospective observational multicenter point prevalence study was conducted in French PICUs, recruiting all children admitted over three different weeks. Anthropometric measurements were taken (weight, height/length, mid-upper arm, and head circumferences), in order to calculate nutritional indices. Nutritional status was defined according to WHO Body Mass Index z-score and dynamic assessment based on growth faltering detection. Concurrently, PICU physicians and PICU nurses from seven French-speaking countries completed a survey to ascertain knowledge about local nutritional care practices and overall nutrition knowledge. PICU physicians' responses were compared to PICU nurses' responses (previously published). RESULTS: Four hundred and thirty-two children were included in the observational study from 27 French PICUs. Undernutrition was diagnosed in 18.5% of them, young age and underlying chronic condition being the two independent risk factors. Faltering growth was diagnosed in 4.8% and overweight in 7.4%. Subjective nutritional assessment was not accurate. Thirty-eight French-speaking PICUs completed the survey. These showed nutritional practices frequently did not comply with international guidelines, especially regarding nutritional goals, and the reasons for withholding enteral nutrition. Comparison between physicians' and nurses' responses to the survey showed large discrepancies. CONCLUSION: Undernutrition is frequent at admission in French PICUs. Nutritional status should be assessed using a holistic approach, because of the potential impact on outcome. French-speaking PICU healthcare professionals need further nutrition education, in order to improve nutritional practices to comply with international recommendations. This study will serve as a baseline to focus NutriSIP teaching programs in the future.

8.
Mol Genet Genomic Med ; 6(6): 957-965, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30308700

RESUMO

BACKGROUND: General practitioners (GPs) have an increasing role in referring patients with putative mutation in BRCA1/2 genes for genetics consultation and for long-term follow-up of mutation carriers. METHODS: We compared the expectations of the GPs' role according to BRCA1/2 mutation carriers and to GPs themselves. RESULTS: Overall, 38% (58/152) of eligible GPs and 70% (176/252) of eligible patients were surveyed. Although 81% of GPs collected the family history, only 24% considered that they know criteria indicating genetics consultation and 39% sufficient knowledge of BRCA1/2 guidelines to answer patients' questions. Twelve% of GPs were aware of the French national guidelines. Among unsatisfied patients, 40% felt that their GP was able to answer (moderately, sufficiently, or completely) specific questions about BRCA1/2 care as compared with 81% in satisfied patients. Only 33% of GPs reported being informed directly by the geneticist about the patients' results. GPs' main expectations for their role in BRCA1/2 carrier care were psychological support and informing relatives about screening (72% and 71%, respectively), which contrasts with the perceptions of patients, who mainly requested medical advice for BRCA1/2-related care (51%). CONCLUSION: There is an important need for GP training and enhancing interactions between GPs and geneticists to improve the GP's role in BRCA1/2 screening and management.


Assuntos
Proteína BRCA2/genética , Neoplasias da Mama/psicologia , Clínicos Gerais/normas , Triagem de Portadores Genéticos/normas , Aconselhamento Genético/normas , Conhecimentos, Atitudes e Prática em Saúde , Adulto , Idoso , Idoso de 80 Anos ou mais , Proteína BRCA1/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Feminino , Clínicos Gerais/psicologia , Aconselhamento Genético/psicologia , Humanos , Pessoa de Meia-Idade , Encaminhamento e Consulta/normas
9.
Lancet ; 392(10141): 31-40, 2018 07 07.
Artigo em Inglês | MEDLINE | ID: mdl-29910040

RESUMO

BACKGROUND: Acute acidaemia is frequently observed during critical illness. Sodium bicarbonate infusion for the treatment of severe metabolic acidaemia is a possible treatment option but remains controversial, as no studies to date have examined its effect on clinical outcomes. Therefore, we aimed to evaluate whether sodium bicarbonate infusion would improve these outcomes in critically ill patients. METHODS: We did a multicentre, open-label, randomised controlled, phase 3 trial. Local investigators screened eligible patients from 26 intensive care units (ICUs) in France. We included adult patients (aged ≥18 years) who were admitted within 48 h to the ICU with severe acidaemia (pH ≤7·20, PaCO2 ≤45 mm Hg, and sodium bicarbonate concentration ≤20 mmol/L) and with a total Sequential Organ Failure Assessment score of 4 or more or an arterial lactate concentration of 2 mmol/L or more. We randomly assigned patients (1:1), by stratified randomisation with minimisation via a restricted web platform, to receive either no sodium bicarbonate (control group) or 4·2% of intravenous sodium bicarbonate infusion (bicarbonate group) to maintain the arterial pH above 7·30. Our protocol recommended that the volume of each infusion should be within the range of 125-250 mL in 30 min, with a maximum of 1000 mL within 24 h after inclusion. Randomisation criteria were stratified among three prespecified strata: age, sepsis status, and the Acute Kidney Injury Network (AKIN) score. The primary outcome was a composite of death from any cause by day 28 and the presence of at least one organ failure at day 7. All analyses were done on data from the intention-to-treat population, which included all patients who underwent randomisation. This study is registered with ClinicalTrials.gov, number NCT02476253. FINDINGS: Between May 5, 2015, and May 7, 2017, we enrolled 389 patients into the intention-to-treat analysis in the overall population (194 in the control group and 195 in the bicarbonate group). The primary outcome occurred in 138 (71%) of 194 patients in the control group and 128 (66%) of 195 in the bicarbonate group (absolute difference estimate -5·5%, 95% CI -15·2 to 4·2; p=0·24). The Kaplan-Meier method estimate of the probability of survival at day 28 between the control group and bicarbonate group was not significant (46% [95% CI 40-54] vs 55% [49-63]; p=0·09. In the prespecified AKIN stratum of patients with a score of 2 or 3, the Kaplan-Meier method estimate of survival by day 28 between the control group and bicarbonate group was significant (37% [95% CI 28-48] vs 54% [45-65]; p=0·0283). [corrected] Metabolic alkalosis, hypernatraemia, and hypocalcaemia were observed more frequently in the bicarbonate group than in the control group, with no life-threatening complications reported. INTERPRETATION: In patients with severe metabolic acidaemia, sodium bicarbonate had no effect on the primary composite outcome. However, sodium bicarbonate decreased the primary composite outcome and day 28 mortality in the a-priori defined stratum of patients with acute kidney injury. FUNDING: French Ministry of Health and the Société Française d'Anesthésie Réanimation.


Assuntos
Acidose/tratamento farmacológico , Unidades de Terapia Intensiva , Bicarbonato de Sódio/uso terapêutico , Acidose/mortalidade , Estudos de Coortes , Humanos , Concentração de Íons de Hidrogênio , Infusões Intravenosas , Terapia de Substituição Renal , Análise de Sobrevida
10.
Clin Endocrinol (Oxf) ; 88(6): 863-872, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29633301

RESUMO

OBJECTIVE: This study compared the profiles of the two types of anorexia nervosa (AN; restrictive: AN-R, and binge eating/purging: AN-BP) in terms of body composition, gynaecological status, disease history and the potential effects on bone metabolism. DESIGN: Two hundred and eighty-six women with AN (21.8 ± 6.5 years; 204 AN-R and 82 AN-BP) and 130 age-matched controls (CON; 22.6 ± 6.8 years) were enrolled. Areal bone mineral density (aBMD) was determined using DXA and resting energy expenditure (REE) was indirectly assessed using calorimetry. Markers of bone formation (osteocalcin [OC], procollagen type I N-terminal propeptide [PINP] and resorption (type I-C telopeptide breakdown products [CTX]) and leptin were concomitantly evaluated. RESULTS: Anorexia nervosa patients presented an alteration in aBMD and bone turnover. When compared according to type, AN-BP were older than AN-R and showed less severe undernutrition, lower CTx levels, longer duration of AN, and higher REE levels and aBMD at radius and lumbar spine. After adjustment for age, weight and hormonal contraceptive use, the aBMD and CTx differences disappeared. In both AN groups, aBMD was positively correlated with anthropometric parameters and negatively correlated with durations of AN and amenorrhoea, the bone formation markers (OC and PINP) and the leptin/fat mass ratio. REE was positively correlated with aBMD in AN-R patients only. CONCLUSIONS: This study shows the profiles of AN patients according to AN type. However, the impact of the profile characteristics on bone status, although significant, was minor and disappeared after multiple adjustments. The positive correlation between REE and aBMD reinforces the concept that energy disposal and bone metabolism are strongly interdependent.


Assuntos
Anorexia Nervosa/metabolismo , Adolescente , Adulto , Antropometria , Biomarcadores/metabolismo , Composição Corporal/fisiologia , Peso Corporal/fisiologia , Densidade Óssea/fisiologia , Remodelação Óssea/fisiologia , Feminino , Humanos , Pessoa de Meia-Idade , Adulto Jovem
11.
Heart ; 104(12): 1026-1036, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29170358

RESUMO

OBJECTIVE: We aimed to compare the cardiopulmonary fitness of children with congenital heart diseases (CHD) with that of age-adjusted and gender-adjusted controls. We also intended to identify clinical characteristics associated with maximum oxygen uptake (VO2max) in this population. METHODS AND RESULTS: We included in a cross-sectional multicentre study a total of 798 children (496 CHD and 302 controls) who underwent a complete cardiopulmonary exercise test (CPET). The association of clinical characteristics with VO2max was studied using a multivariate analysis. Mean VO2max in the CHD group and control represented 93%±20% and 107%±17% of predicted values, respectively. VO2max was significantly lower in the CHD group, overall (37.8±0.3vs 42.6±0.4 mL/kg/min, P<0.0001) and for each group (P<0.05). The mean VO2max decline per year was significantly higher in CHD than in the controls overall (-0.84±0.10 vs -0.19±0.14 mL/kg/min/year, P<0.01), for boys (-0.72±0.14vs 0.11±0.19 mL/kg/min/year, P<0.01) and for girls (-1.00±0.13 vs -0.55±0.21 mL/kg/min/year, P=0.05). VO2max was associated with body mass index, ventilatory anaerobic threshold, female gender, restrictive ventilatory disorder, right ventricle systolic hypertension, tricuspid regurgitation, the number of cardiac catheter or surgery procedures, and the presence of a genetic anomaly. CONCLUSIONS: Although the magnitude of the difference was not large, VO2max among children with CHD was significantly lower than in normal children. We suggest performing CPET in routine follow-up of these patients. TRIAL REGISTRATION NUMBER: ClinicalTrials.gov NCT01202916;Post-results.


Assuntos
Aptidão Cardiorrespiratória , Cardiopatias Congênitas/fisiopatologia , Consumo de Oxigênio , Adolescente , Fatores Etários , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Teste de Esforço , Tolerância ao Exercício , Feminino , França , Nível de Saúde , Cardiopatias Congênitas/diagnóstico , Humanos , Masculino , Valor Preditivo dos Testes , Prognóstico
12.
Arch Cardiovasc Dis ; 111(3): 180-188, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29100908

RESUMO

BACKGROUND: The quality of life (QoL) of children receiving vitamin K antagonist (VKA) treatment has been scarcely studied. AIM: To assess QoL of children, and its evolution, throughout our non-selective international normalized ratio (INR) self-monitoring education programme. METHODS: Children and parents completed QoL questionnaires (Qualin, PedsQL) during education sessions. Scores were compared with those from controls. RESULTS: A total of 111 children (mean±standard deviation age 8.7±5.4 years) were included over a 3-year period. Indications for VKA treatment were congenital heart diseases (valve replacement [42.3%], total cavopulmonary connection [29.7%]), myocardiopathy (11.7%), coronary aneurysm (7.2%), venous/intracardiac thrombosis (4.5%), pulmonary artery hypertension (1.8%), arrhythmia (0.9%) and extra-cardiac disease (1.8%). Eighty children, 105 mothers and 74 fathers completed the QoL questionnaires. QoL was good among children aged 1-4 years and moderately impaired in those aged between 5 and 18 years. There was no significant relationship between self-reported QoL and patient's sex, type of VKA, number of group sessions attended, disease duration or time of diagnosis (prenatal or postnatal). QoL scores were significantly lower among children with congenital heart diseases compared with other diseases. There were few differences in QoL between children under transient VKA treatment and those treated for life. Parental proxy QoL scoring correlated well with but was significantly lower than child self-assessments. QoL reported by mothers increased throughout the education programme, independently of any improvement of the health condition. CONCLUSIONS: This QoL study provides original data from a large cohort of children and their parents participating in a formalized INR self-monitoring education programme for VKA treatment.


Assuntos
Anticoagulantes/administração & dosagem , Coagulação Sanguínea/efeitos dos fármacos , Monitoramento de Medicamentos/métodos , Coeficiente Internacional Normatizado , Educação de Pacientes como Assunto/métodos , Qualidade de Vida , Autocuidado/métodos , Vitamina K/antagonistas & inibidores , Adolescente , Comportamento do Adolescente , Anticoagulantes/efeitos adversos , Criança , Comportamento Infantil , Pré-Escolar , Feminino , Comportamentos Relacionados com a Saúde , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Pais/psicologia , Valor Preditivo dos Testes , Avaliação de Programas e Projetos de Saúde , Estudos Prospectivos , Inquéritos e Questionários
13.
Breast Cancer Res Treat ; 166(2): 631-639, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28779219

RESUMO

PURPOSE: This report compares the risk factors, the tumor phenotypes, and the BRCA1/BRCA2 genotype of early onset breast cancer (EOBC) patients between Southern Europe and North Africa. METHODS: Four hundred and fifty six women with invasive EOBC (≤40 years) were prospectively included from four centers in France (n = 270) and four centers in North Africa (Algeria, Egypt, Morocco, Tunisia; n = 186). Life style, tumor phenotype, familial history, BRCA1/BRCA2 genotype were compared between the two populations. RESULTS: We found an older age at menarche, a higher number of childbearing, a more frequent breastfeeding, a higher body mass index, a lower use of oral contraceptives in North African women compared to French women. TNM stage at diagnosis was higher in North African women than in French women. North African women had a lower incidence of triple negative and proliferative (Ki 67 index > 20%) tumors. There was a lower rate of BRCA1 mutation in North Africa (7 vs. 15%, P = 0.02). Three putative BRCA1/2 founder mutations were identified in North Africa. CONCLUSIONS: In EOBC, we found significant differences in risk factors, phenotype and a higher incidence of BRCA1 mutations in Southern Europe as compared to North Africa. The worst prognosis previously reported for EOBC in North Africa is more likely due to a higher stage at diagnosis than to a more aggressive phenotype, since triple negative tumors are more common in Southern Europe and advanced tumors in North Africa.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/patologia , África do Norte , Idade de Início , Neoplasias da Mama/genética , Feminino , França , Genótipo , Humanos , Estadiamento de Neoplasias , Estudos Prospectivos , Fatores de Risco
14.
J Pediatr Endocrinol Metab ; 30(8): 863-868, 2017 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-28753541

RESUMO

BACKGROUND: The aim of the study was to assess health-related quality of life (HR-QoL) in children with Turner syndrome in comparison with controls. METHODS: We prospectively recruited 16 female girls with Turner syndrome (mean age 15.2±2.6 years) and 78 female controls (mean age 12.7±2.8 years) in randomly selected schools. We used the PedsQL, a generic HR-QoL questionnaire (self and parents' versions). RESULTS: Global HR-QoL scores in Turner syndrome were lower than controls for self-reports (respectively, 74.3±3.0 vs. 82.8±1.3, p=0.01) and parents' reports (62.7±3.8 vs. 80.1±1.7, p<0.0001). In Turner syndrome, self-reported HR-QoL was impaired in school functioning (70.6±4.0 vs. 80.71±1.7, p=0.02), social functioning (78.2±4.0 vs. 90.4±1.8, p<0.01) and physical functioning (78.5±3.2 vs. 87.1±1.4, p=0.02), but not in emotional functioning. Parents' reported HR-QoL was impaired in all four dimensions. CONCLUSIONS: HR-QoL was impaired in this cohort of young females with Turner syndrome, as in previously reported adult studies. In addition to medical treatment and routine clinical follow-up, female girls and teenagers with Turner syndrome should also be supported psychologically by social, educational and psychotherapeutic interventions that aim to address their self-esteem and emotional difficulties.


Assuntos
Nível de Saúde , Qualidade de Vida/psicologia , Autoimagem , Ajustamento Social , Síndrome de Turner/psicologia , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Pais/psicologia , Autorrelato , Inquéritos e Questionários
15.
PLoS One ; 11(9): e0162396, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27588817

RESUMO

MAIN OBJECTIVES: To estimate the incidence of active bleeding after cardiac surgery (AB) based on a definition directly related on blood flow from chest drainage; to describe the AB characteristics and its management; to identify factors of postoperative complications. METHODS: AB was defined as a blood loss > 1.5 ml/kg/h for 6 consecutive hours within the first 24 hours or in case of reoperation for hemostasis during the first 12 postoperative hours. The definition was applied in a prospective longitudinal observational study involving 29 French centers; all adult patients undergoing cardiac surgery with cardiopulmonary bypass were included over a 3-month period. Perioperative data (including blood product administration) were collected. To study possible variation in clinical practice among centers, patients were classified into two groups according to the AB incidence of the center compared to the overall incidence: "Low incidence" if incidence is lower and "High incidence" if incidence is equal or greater than overall incidence. Logistic regression analysis was used to identify risk factors of postoperative complications. RESULTS: Among 4,904 patients, 129 experienced AB (2.6%), among them 52 reoperation. Postoperative bleeding loss was 1,000 [820;1,375] ml and 1,680 [1,280;2,300] ml at 6 and 24 hours respectively. Incidence of AB varied between centers (0 to 16%) but was independent of in-centre cardiac surgical experience. Comparisons between groups according to AB incidence showed differences in postoperative management. Body surface area, preoperative creatinine, emergency surgery, postoperative acidosis and red blood cell transfusion were risk factors of postoperative complication. CONCLUSIONS: A blood loss > 1.5 ml/kg/h for 6 consecutive hours within the first 24 hours or early reoperation for hemostasis seems a relevant definition of AB. This definition, independent of transfusion, adjusted to body weight, may assess real time bleeding occurring early after surgery.


Assuntos
Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Hemorragia Pós-Operatória/epidemiologia , Hemorragia Pós-Operatória/etiologia , Idoso , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Período Pós-Operatório , Estudos Prospectivos , Reoperação/efeitos adversos , Fatores de Risco
16.
J Clin Endocrinol Metab ; 99(4): E582-90, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24471564

RESUMO

BACKGROUND: The nutritional deprivation of adolescent girls with anorexia nervosa (AN) reduces bone mass acquisition. A better understanding of this process would improve the medical treatment of bone alteration and its long-term consequences. OBJECTIVE: The first aim was to model the bone mass acquisition in young women with AN. The second aim was to identify the clinical and biological factors associated with bone demineralization and investigate the potential role of sclerostin and dickkopf-1 protein (DKK-1). POPULATION AND METHODS: Ninety-eight AN patients (mean age 18.2 ± 2.6 years) and 63 age-matched controls were enrolled in this study. Areal bone mineral density (aBMD) was determined by dual-energy x-ray absorptiometry. Calciotropic hormones, bone turnover markers, sclerostin, DKK-1, and growth factors were concomitantly evaluated. RESULTS: The aBMD was significantly reduced at all bone sites in AN patients vs controls (range, -3.3% at the radius to -12.1% for total proximal femur). Bone formation markers IGF-1 and DKK-1 were significantly decreased in AN patients, whereas PTH, sclerostin, and the bone resorption markers were increased. In patients, the AN duration, amenorrhea, weight, body mass index, fat mass, and fat-free soft tissue were negatively correlated with aBMD, whereas the age of AN onset was positively correlated. Multiple regression analysis revealed that the duration of amenorrhea was the independent factor most negatively associated with aBMD at all bone sites except the radius. CONCLUSION: This case-control study demonstrated a dramatic reduction in aBMD, reinforced for the first time by our models, and indicates the need for early, systematic, and adapted bone mass monitoring. Moreover, appropriate treatment should be started early in patients with AN. Increased secretion of sclerostin suggests that it may be a target for pharmacological action.


Assuntos
Anorexia Nervosa/sangue , Anorexia Nervosa/fisiopatologia , Densidade Óssea , Proteínas Morfogenéticas Ósseas/fisiologia , Marcadores Genéticos/fisiologia , Peptídeos e Proteínas de Sinalização Intercelular/fisiologia , Osteogênese , Proteínas Adaptadoras de Transdução de Sinal , Adolescente , Adulto , Biomarcadores/sangue , Índice de Massa Corporal , Densidade Óssea/efeitos dos fármacos , Osso e Ossos/efeitos dos fármacos , Osso e Ossos/metabolismo , Estudos de Casos e Controles , Anticoncepcionais Orais/farmacologia , Feminino , Humanos , Osteogênese/efeitos dos fármacos , Adulto Jovem
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