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1.
J Clin Med ; 13(3)2024 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-38337472

RESUMO

Background: This study aimed to document recovery trajectories among adolescents with anorexia nervosa (AN) based on three markers of remission, namely changes in body weight, food restriction, and excessive exercise, and to identify predictors of these trajectories. Methods: One hundred twenty-six adolescent girls (14.7 ± 1.3 years) were recruited during initial assessment visits at specialized eating disorder (ED) programs in five University Health Centers across the province of Quebec, Canada. z-BMI and AN symptom severity (food restriction and excessive exercise) were assessed at initial assessment visits and subsequently reassessed at each quarterly follow-up over a 12-month period to identify recovery trajectories. Results: Considering the three markers of remission, three distinct trajectories emerged: Group 1, rapid responders; Group 2, gradual responders; and Group 3, unstable responders. At initial visits, a difference between groups was found regarding the type of treatment (p = 0.01) and weight suppression (p = 0.02). Group 1 had a higher number of youths hospitalized than Group 2 and Group 3, and a greater weight suppression than Group 3. Furthermore, individuals with atypical AN were more likely to belong to Group 2 than to Group 1 and Group 3 (p < 0.0001). Conclusions: This study contributes to a better understanding of the heterogeneity of recovery trajectories in adolescent girls with AN.

2.
Nutrients ; 15(11)2023 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-37299504

RESUMO

This Special Issue of Nutrients, entitled "Nutritional Management and Outcomes in Anorexia Nervosa", aims to advance aspects of the scientific understanding of some serious or frequent somatic involvements and of the precocious nutrition management of severe forms of the disease in order to assist clinicians in the management of such patients [...].


Assuntos
Anorexia Nervosa , Terapia Nutricional , Humanos , Anorexia Nervosa/terapia
3.
Eur Eat Disord Rev ; 31(5): 709-716, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37194134

RESUMO

PURPOSE: Anorexia Nervosa (AN) is a serious and potentially lethal mental disorder characterised by a deliberate quest to reduce one's weight. It can have multiple physical and psychological consequences. The clinical presentation of AN can include gastrointestinal symptoms, however, the pathophysiology of these symptoms in the context of AN remains uncertain. It is hypothesised that patients with AN may have an increase in intestinal permeability, which could lead to an increase in faecal calprotectin (fCP), a marker of intestinal inflammation. No relation between AN and elevation of fCP has been previously described in literature. METHODS: Eight patients hospitalised for AN have a dosage of fCP. RESULTS: Calprotectine was found to be elevated in 50% of cases, with or without any underlying comorbid gastrointestinal disease. Only the duration of illness tended to be associated with the increase in fCP suggesting a greater alteration as a function related to the time of denutrition. CONCLUSION: Although these findings provide insights in the potential pathophysiology of gastrointestinal symptoms in AN, further studies that evaluate the factors associated with elevated fCP in patients with AN are needed.


Assuntos
Anorexia Nervosa , Complexo Antígeno L1 Leucocitário , Humanos , Anorexia Nervosa/diagnóstico , Biomarcadores , Trato Gastrointestinal , Fezes
4.
Nutrients ; 14(1)2022 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-35011105

RESUMO

Inadequate nutritional rehabilitation of severely malnourished adolescents with Anorexia Nervosa (AN) increases the risk of medical complications. There is no consensus on best practices for inpatient nutritional rehabilitation and medical stabilization for severe AN. This study aimed to elaborate an admission protocol for adolescents with severe AN based on a comprehensive narrative review of current evidence. A Pubmed search was conducted in July 2017 and updated in August 2020, using the keywords severe AN or eating disorders (ED), management guidelines and adolescent. Relevant references cited in these guidelines were retrieved. A secondary search was conducted using AN or ED and refeeding protocol, refeeding syndrome (RS), hypophosphatemia, hypoglycemia, cardiac monitoring or cardiac complications. Evidence obtained was used to develop the admission protocol. Selective blood tests were proposed during the first three days of nutritional rehabilitation. Higher initial caloric intake is supported by evidence. Continuous nasogastric tube feeding was proposed for patients with a BMI < 12 kg/m2. We monitor hypoglycemia for 72 h. Continuous cardiac monitoring for bradycardia <30 BPM and systematic phosphate supplementation should be considered. Developing protocols is necessary to improve standardization of care. We provide an example of an inpatient admission protocol for adolescents with severe AN.


Assuntos
Anorexia Nervosa/reabilitação , Protocolos Clínicos/normas , Transtornos da Alimentação e da Ingestão de Alimentos/reabilitação , Guias de Prática Clínica como Assunto , Adolescente , Feminino , Hospitalização , Humanos , Pacientes Internados , Masculino
5.
Med Sci (Paris) ; 37(8-9): 786-790, 2021.
Artigo em Francês | MEDLINE | ID: mdl-34491188

RESUMO

TITLE: Maladies chroniques - S'appuyer sur les enjeux de l'adolescence pour une transition réussie vers les services pour adultes. ABSTRACT: La transition de la prise en charge pédiatrique vers la prise en charge d'adulte est un processus qui nécessite d'être abordé très tôt dans le suivi d'un enfant porteur d'une maladie chronique. Elle doit tenir compte du rythme de chacun des intervenants : le praticien, l'adolescent et sa famille. L'interaction entre les bouleversements de l'adolescence et le processus de transition entraîne trop souvent une rupture du suivi, avec ses conséquences en termes de morbidité et de mortalité. Depuis quelques années, des guides et des structures dédiées sont mises en place pour favoriser un passage serein vers les structures pour adultes.


Assuntos
Transição para Assistência do Adulto , Adolescente , Adulto , Doença Crônica , Humanos
6.
J Eat Disord ; 9(1): 36, 2021 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-33691797

RESUMO

BACKGROUND: Anorexia Nervosa (AN) is a highly prevalent disease in adolescents and young adults (AYAs). The quality of initial inpatient medical management in a patient with severe malnutrition due to AN is crucial to prevent further medical instability. This review aims to inventory evidence regarding initial refeeding and management of AYAs with AN in an inpatient setting, in order to avoid medical complications. METHODS: A systematic review will be conducted using PubMed, MEDLINE, All EBM Reviews, Embase, PsycINFO, Cochrane Database and CINAHL. The search strategy consists of terms related to anorexia, hospitalization and Pediatrics. Randomized controlled trials, case-control studies, cross-sectional and cohort studies will be included. Participants will include adolescents and adults 18-24 years old diagnosed with AN and meeting criteria for severe disease. The primary outcome will be any of the following complications: hypophosphatemia, refeeding syndrome, hypoglycemia, cardiac arrythmia, hepatic cytolysis or death. Data will be extracted and the risk of bias will be assessed by one author and reviewed by a second author. Results will be presented in a systematic narrative synthesis format. The quality of evidence for all outcomes will be evaluated using the GRADE methodology. DISCUSSION: This systematic review will examine current evidence on initial inpatient refeeding and help to document effectiveness of initial inpatient management in AYAs with severe AN in avoiding further medical complications. TRIAL REGISTRATION: This study is registered on PROSPERO under the reference number CRD42019123608 .

7.
J Pain Symptom Manage ; 61(2): 416-422, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32961219

RESUMO

The coronavirus disease 2019 pandemic presents unprecedented challenges for the health care system. The pressure on health care staff continues to intensify, accentuated by the confinement (lockdown) of the population and the unprecedented duration of this emergency. Separately and especially together, overwork, degraded conditions of care because of the never-ending emergency, and the risk of exposure to the virus can lead to acute psychological distress or signs of burnout. This original program was developed at Cochin Hospital in Paris, France to prevent these potentially dramatic psychological consequences, support the medical staff, and identify those most affected to offer them specific care. A program and a space for relaxation and support for hospital caregivers by hospital caregivers, the Port Royal Bulle (the Bubble) offers these workers help in decompression and relaxation. It combines a warm and caring welcome that promotes attention, listening, conversations, and exchanges as needed, empathetic support, and the ability to participate in soothing, relaxing, or low-impact physical activities. It takes care of caregivers. The Bubble is a program that is simple to set up and that appears to meet professionals' expectations. Making it permanent and enlarging its scale, as a complement to existing programs, might help to support health care personnel in their work.


Assuntos
Esgotamento Profissional/prevenção & controle , COVID-19/epidemiologia , Serviços de Saúde do Trabalhador/organização & administração , Angústia Psicológica , Terapia de Relaxamento , Apoio Social , COVID-19/psicologia , COVID-19/terapia , França , Humanos
8.
J Pediatr Adolesc Gynecol ; 33(6): 681-685, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32730801

RESUMO

STUDY OBJECTIVE: Estrogens are suspected to have a negative effect on pulmonary function in women with cystic fibrosis (CF). The aim of our study was to investigate, in a CF adolescent population, the effect of hormonal contraception (HC) on lung function by assessing the forced expiratory volume in 1 second (FEV1), the number of exacerbations of pulmonary condition, and antibiotic use. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: We conducted a cohort retrospective chart review of girls from age 13 to 18 years old who were followed in the CF clinic of a university hospital center. Wilcoxon rank sum test with continuity correction, 2-sample t test, conditional test of Poisson rates, and χ2 test were conducted to identify differences in results between adolescents with or without use of HC for the following outcomes: FEV1, use of antibiotics by nebulizer, and hospital admission for exacerbations of pulmonary condition. RESULTS: Among 127 adolescents, 64/127 (50.4%) took HC; 12/127 (9%) continuously had been taking HC over 3 years. For girls taking HC for more than 3 years, FEV1 at 18 years old was significantly higher than for girls who had never taken HC (85.17% vs 71.05%; P = .043). However, there was no difference in the number of hospital admissions for exacerbation of pulmonary condition between these 2 groups (P = .057). There was no difference between HC vs non-HC users in the percent of patients taking antibiotics by nebulizer over the 6 years of follow-up. CONCLUSION: Our study suggests that in adolescents with CF, HC has no deleterious effects on the FEV1. Further prospective studies could be done to confirm these results.


Assuntos
Fibrose Cística/patologia , Volume Expiratório Forçado/efeitos dos fármacos , Contracepção Hormonal , Hospitalização/estatística & dados numéricos , Pulmão/efeitos dos fármacos , Adolescente , Antibacterianos/administração & dosagem , Canadá/epidemiologia , Estudos de Coortes , Feminino , Hospitais Universitários , Humanos , Estudos Retrospectivos
9.
Eur J Pediatr ; 179(1): 61-71, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31515671

RESUMO

The use of transition readiness questionnaires is strongly recommended in adolescents with chronic conditions. The aim of our study was to validate "Good2Go," the first French-language transition readiness questionnaire. We analyzed the data from 2 multicentric studies (Canada and France) involving adolescents with chronic conditions (type 1 diabetes, inflammatory bowel disease, cystic fibrosis, epilepsy, juvenile idiopathic arthritis). Content and construct validity were examined using factorial and Rasch analysis (structural validity), Spearman's correlation, and Mann-Whitney test (external validity). Cronbach's α and intra-class correlation coefficients explored reliability. Cognitive interviews assessed wording comprehension and item appropriateness. Good2Go was completed by 321 participants (boys = 51%; mean age = 16.4 years (standard deviation = 1.5; min = 14.0; max = 18.0); Canada = 51.1%). Factor analysis identified 3 domains: "health self-advocacy," "knowledge about chronic conditions," and "self-management skills." The 3-domain structure showed a satisfying Rasch fit, internal consistency, and test-retest reliability. Good2Go domain scores were significantly higher in participants over 17 years of age, indicating satisfactory external validity.Conclusion: Good2Go is a valid 20-item questionnaire to assess transition readiness in adolescents with chronic conditions and may be useful in routine care to propose individually tailored preparation for their transfer to adult healthcare. Further research is now needed to analyze correlation between domain scores and success of transition.What is Known:• In adolescents with chronic conditions, the use of transition readiness questionnaires is recommended to propose individually tailored preparation for their transfer to adult healthcare.• However, no French-language questionnaire has been so far validated.What is New:• Based on a complete validation methodology, this study highlights that the French-language 20-items Good2Go questionnaire has good psychometric properties.• It explores all transition key points though 3 scored domains: "health self-advocacy", "knowledge about chronic disease" and "self-management skills".


Assuntos
Doença Crônica/terapia , Conhecimentos, Atitudes e Prática em Saúde , Inquéritos e Questionários , Transição para Assistência do Adulto , Adolescente , Canadá , Feminino , França , Humanos , Masculino , Psicometria , Reprodutibilidade dos Testes , Traduções
10.
Clin Nutr ; 39(6): 1914-1918, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31495736

RESUMO

AIM: Serum creatinine level is the most used test to evaluate renal function in patients with anorexia nervosa (AN). We investigated which formula of glomerular filtration rate (GFR) based on simple blood sample had the best correlation with the gold standard in malnourished adolescent patients with AN. METHODS: A prospective study was conducted on 34 adolescents hospitalized for the restrictive type of AN between 2014 and 2017. The GFR was measured by isotopic technique and calculated using the Cockroft-Gault, Schwartz equations and 3 other formula. RESULTS: For the 34 AN patients, mean BMI -2.7 zscore, the mean measured GFR was 107+/-26 mL/min/1.73 m2. Among them, 35% (12/34) had a GFR under 90 mL/min/1.73 m2. The calculated GFR with Cockroft-Gault formula had the best correlation with the measured GFR (R2 = 0.852), whatever the creatinine level. No correlation was found between creatinine level and measured GFR. CONCLUSION: Kidney dysfunction is common in malnourished AN adolescents, so clinicians should always evaluate AN patients for renal impairments. Creatinine level is a poor indicator of renal function in this population. The most accurate formula to test GFR with a simple blood test is the Cockroft-Gault formula.


Assuntos
Anorexia Nervosa/complicações , Taxa de Filtração Glomerular , Nefropatias/diagnóstico , Rim/fisiopatologia , Desnutrição/etiologia , Modelos Biológicos , Estado Nutricional , Adolescente , Fatores Etários , Anorexia Nervosa/diagnóstico , Anorexia Nervosa/fisiopatologia , Biomarcadores/sangue , Criança , Creatinina/sangue , Cistatina C/sangue , Hospitalização , Humanos , Nefropatias/etiologia , Nefropatias/fisiopatologia , Desnutrição/diagnóstico , Desnutrição/fisiopatologia , Valor Preditivo dos Testes , Estudos Prospectivos , Fatores de Risco
11.
Eat Weight Disord ; 25(4): 1021-1027, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31168728

RESUMO

PURPOSE: Anorexia nervosa (AN) is a complex medical condition affecting mainly adolescents and young adults. To monitor and prevent refeeding syndrome, current guidelines recommend daily laboratory testing in the first week of hospitalization and 2-3 times/week for the following 3 weeks. The aims of this study were to determine the proportion of abnormal results of the blood tests done during the first week of nutritional rehabilitation in adolescents with AN, the proportion of test having led to supplementation and the cost of all these tests. METHOD: A retrospective chart review of admissions for eating disorders between May 2014 and May 2015 in a tertiary Pediatric University Hospital center was performed. Patients were included if they were younger than 18 years, admitted for protocol-based refeeding and met criteria for AN (DSM 5). RESULTS: Among the 99 hospitalizations included in the study, the mean age was 14.6 years (± 1.7), with a female predominance (97%). The mean admission BMI was 15.3 ± 2 kg/m2 (Z-score - 2.6 ± 1.4). The mean length of hospitalization was 40.3 days ± 21.8. Of the 1289 laboratory tests performed, only 1.5% revealed abnormal values and 0.85% led to supplementation. No critical value was identified. The total cost for the tests performed was 148,926.80 CAD$, 1504$/admitted patient, instead of 3890$/admitted patient had we followed the recommendations. CONCLUSION: More precise criteria should be developed regarding the frequency of laboratory tests needed to monitor and prevent refeeding syndrome. At present, the recommendations could lead to unnecessary testing and expenses. LEVEL OF EVIDENCE: Level IV: Dramatic results in uncontrolled trials.


Assuntos
Anorexia Nervosa , Síndrome da Realimentação , Adolescente , Criança , Feminino , Hospitalização , Humanos , Laboratórios , Masculino , Síndrome da Realimentação/prevenção & controle , Estudos Retrospectivos , Adulto Jovem
12.
Arch Cardiovasc Dis ; 113(1): 40-49, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31735609

RESUMO

BACKGROUND: Little is known about the incidence of cardiovascular events (CVEs) and their associated risk markers in children with Marfan syndrome (MFS). AIMS: To assess the incidence of CVEs and determine risk markers in a cohort diagnosed with Marfan syndrome during childhood and followed for several years. METHODS: From a French multicentre nationwide database, 462 patients with MFS diagnosed during childhood were included prospectively. Patients' files were screened for a period of 20 years (1993-2013). CVEs (e.g. death, aortic dissection, cardiac valve or aortic root surgery) were assessed during the prospective follow-up. RESULTS: Median (interquartile range) age at the end of follow-up was 17.2 (11.1-21.3) years. CVEs were reported for 35 participants (7.6%; 95% confidence interval [CI] 5.3-10.4%). First CVEs were prophylactic aortic root surgery (n=29), aortic dissection (n=4; two aged <18 years) and death (n=2). Kaplan-Meier cumulative incidence of CVEs was 5.3% (95% CI 3.3-8.7%) during childhood (aged≤18 years) and 19.4% (95% CI 13.3-27.9%) at 25years of age. The cumulative rate of CVEs was higher in case of Valsalva sinus Z-score increase of≥0.1 per year (P=0.0003), maximal Valsalva sinus diameter growth speed ≥5mm per year (P=0.03), aortic regurgitation≥2 (P=0.0005) and maximal Valsalva sinus Z-score≥3 before 16 years of age (P<0.0001). In a multivariable Cox proportional analysis, the Valsalva sinus Z-score remained significantly related to outcome. Considering aortic root evolution, aortic regurgitation, age at diagnosis and beta-blocker therapy were related to Valsalva sinus Z-score evolution during follow-up. CONCLUSIONS: CVEs in children with MFS are mainly related to prophylactic aortic root surgery. Aortic dissections are rarely observed in children. The Valsalva sinus Z-score is a strong indicator of subsequent CVEs in children with MFS. Attention to follow-up and beta-blocker observance may be warranted in high-risk children.


Assuntos
Doenças Cardiovasculares/epidemiologia , Síndrome de Marfan/epidemiologia , Adolescente , Adulto , Fatores Etários , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/mortalidade , Doenças Cardiovasculares/terapia , Criança , Pré-Escolar , Bases de Dados Factuais , Feminino , França/epidemiologia , Humanos , Incidência , Lactente , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/mortalidade , Síndrome de Marfan/terapia , Prognóstico , Estudos Prospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Adulto Jovem
13.
J Clin Med ; 8(2)2019 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-30823566

RESUMO

Drugs are widely prescribed for anorexia nervosa in the nutritional, somatic, and psychiatric fields. There is no systematic overview in the literature, which simultaneously covers all these types of medication. The main aims of this paper are (1) to offer clinicians an overview of the evidence-based data in the literature concerning the medication (psychotropic drugs and medication for somatic and nutritional complications) in the field of anorexia nervosa since the 1960s, (2) to draw practical conclusions for everyday practise and future research. Searches were performed on three online databases, namely MEDLINE, Epistemonikos and Web of Science. Papers published between September 2011 and January 2019 were considered. Evidence-based data were identified from meta-analyses, if there were none, from systematic reviews, and otherwise from trials (randomized or if not open-label studies). Evidence-based results are scarce. No psychotropic medication has proved efficacious in terms of weight gain, and there is only weak data suggesting it can alleviate certain psychiatric symptoms. Concerning nutritional and somatic conditions, while there is no specific, approved medication, it seems essential not to neglect the interest of innovative therapeutic strategies to treat multi-organic comorbidities. In the final section we discuss how to use these medications in the overall approach to the treatment of anorexia nervosa.

14.
Eat Weight Disord ; 24(2): 323-327, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28550606

RESUMO

PURPOSE: Although primarily a mental health disorder, anorexia nervosa (AN) has many physical consequences. Among them, the consequences on kidney function are often underestimated. We evaluated renal function in adolescent AN inpatients and investigated the correlation between the GFR and intrinsic patient characteristics. METHODS: A single-center retrospective study was conducted on 51 patients hospitalized for the restrictive type of AN in 2013. Data were divided into: (1) medical history of AN; (2) growth parameters and vital signs upon admission; and (3) blood tests. The glomerular filtration rate (GFR) was calculated using the Cockroft-Gault, MAYO Clinical Quadratic (MCQ), Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI), the Modification of Diet in Renal Disease (MDRD), and Schwartz equations. RESULTS: The calculated percentages of patients with a GFR below 90 mL/min/1.73 m2 according to the different equations were as follows: Cockroft-Gault, 45%; MDRD, 28%; CKD-EPI, 14%; MCQ, 12%, and Schwartz, 4%. There was a strong association between the body mass index (BMI) and the GFR according to all equations (p < 0.0001). The lowest heart rate was significantly associated with a reduced GFR according to the Cockroft-Gault equation (p = 0.03). The GFR values did not differ significantly after rehydration. CONCLUSION: Clinicians should evaluate AN patients for renal complications, especially when the BMI and heart rate are very low. Dehydration was not solely responsible for renal impairment. LEVEL OF EVIDENCE: Level III, single-center retrospective cohort study.


Assuntos
Anorexia Nervosa/complicações , Índice de Massa Corporal , Taxa de Filtração Glomerular/fisiologia , Nefropatias/etiologia , Rim/fisiopatologia , Adolescente , Anorexia Nervosa/fisiopatologia , Criança , Feminino , Humanos , Nefropatias/fisiopatologia , Masculino , Estudos Retrospectivos
15.
Minerva Pediatr ; 71(2): 125-134, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28643991

RESUMO

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


Assuntos
Depressão/epidemiologia , Qualidade de Vida , Sono/fisiologia , Estudantes/estatística & dados numéricos , Adolescente , Estudos de Coortes , Feminino , Humanos , Masculino , Análise Multivariada , Paris/epidemiologia , Instituições Acadêmicas , Transtornos do Sono do Ritmo Circadiano/epidemiologia , Fatores Socioeconômicos , Inquéritos e Questionários , Fatores de Tempo , Adulto Jovem
16.
Eur J Pediatr ; 178(2): 213-219, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30397823

RESUMO

The purpose of our study is to establish if the proportion of patients diagnosed with anorexia nervosa that have a history of excess weight has increased over a 10-year period and to study how different premorbid weight groups vary in terms of clinical characteristics. We performed a single-center, retrospective cohort study of all new patients presenting with anorexia nervosa, restrictive and binge/purge subtypes, in 2004 and 2014 at the Adolescent Medicine Clinic of Sainte-Justine University Health Centre (n = 172). The prevalence of excess premorbid weight was similar in both cohorts (32% in 2004 versus 29.5% in 2014). The historically overweight subgroup had a lower heart rate at intake (64.77 versus 69.75, p = 0.03). Patients with excess premorbid weight lost an average of 1 kg more per month than their historically thinner counterparts (2.6 kg versus 1.6 kg/month, p = 0.0011). The total decrease in BMI was much greater in patients with a history of excess weight (7 BMI points versus 3.8, p = 0.0001).Conclusion: Since overweight and obese patients present with significant weight suppression values, our study stresses the importance of screening for AN in all patients rather than in only the noticeably underweight. What is Known: • More than one third of patients presenting with AN have a history of overweight or obesity, which is comparable to the general population. • A delay between AN onset and diagnosis has been described in overweight adolescents. What is New: • Historically overweight patients presenting with AN demonstrate increased speed of weight loss, greater drop in BMI, and lower heart rate at presentation. • For patients with a history of excess weight considered as having recovered from AN, the average BMI at discharge was within normal limits.


Assuntos
Anorexia Nervosa/etiologia , Obesidade Infantil/epidemiologia , Adolescente , Índice de Massa Corporal , Peso Corporal , Criança , Estudos de Coortes , Feminino , Seguimentos , Humanos , Masculino , Obesidade Infantil/complicações , Prevalência , Estudos Retrospectivos , Aumento de Peso
17.
Eur J Hum Genet ; 26(12): 1759-1772, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30087447

RESUMO

Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder related to variants in the FBN1 gene. Prognosis is related to aortic risk of dissection following aneurysm. MFS clinical variability is notable, for age of onset as well as severity and number of clinical manifestations. To identify genetic modifiers, we combined genome-wide approaches in 1070 clinically well-characterized FBN1 disease-causing variant carriers: (1) an FBN1 eQTL analysis in 80 fibroblasts of FBN1 stop variant carriers, (2) a linkage analysis, (3) a kinship matrix association study in 14 clinically concordant and discordant sib-pairs, (4) a genome-wide association study and (5) a whole exome sequencing in 98 extreme phenotype samples.Three genetic mechanisms of variability were found. A new genotype/phenotype correlation with an excess of loss-of-cysteine variants (P = 0.004) in severely affected subjects. A second pathogenic event in another thoracic aortic aneurysm gene or the COL4A1 gene (known to be involved in cerebral aneurysm) was found in nine individuals. A polygenic model involving at least nine modifier loci (named gMod-M1-9) was observed through cross-mapping of results. Notably, gMod-M2 which co-localizes with PRKG1, in which activating variants have already been described in thoracic aortic aneurysm, and gMod-M3 co-localized with a metalloprotease (proteins of extra-cellular matrix regulation) cluster. Our results represent a major advance in understanding the complex genetic architecture of MFS and provide the first steps toward prediction of clinical evolution.


Assuntos
Genes Modificadores , Síndrome de Marfan/genética , Herança Multifatorial , Fenótipo , Adolescente , Adulto , Idoso , Células Cultivadas , Colágeno Tipo IV/genética , Feminino , Fibrilina-1/genética , Fibroblastos/metabolismo , Ligação Genética , Humanos , Masculino , Síndrome de Marfan/patologia , Pessoa de Meia-Idade , Mutação , Locos de Características Quantitativas
18.
Pediatr Res ; 83(1-1): 71-77, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28846673

RESUMO

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


Assuntos
Síndrome de Marfan/epidemiologia , Síndrome de Marfan/fisiopatologia , Adolescente , Tamanho Corporal , Osso e Ossos/anatomia & histologia , Criança , Pré-Escolar , Feminino , Fibrilina-1/genética , França , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Nomogramas , Curva ROC , Estudos Retrospectivos
20.
Eat Weight Disord ; 22(2): 285-289, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27995488

RESUMO

PURPOSE: Anorexia nervosa (AN) is a severe pathology on account of the high levels of associated morbidity and mortality. This study aimed to assess whether time in somatic intensive care unit, justified by a patient's somatic condition in the course of hospital care, has any relationship with patient outcome in terms of mortality in the long term. METHODS: 195 patients were hospitalised for AN between April 1996 and May 2002, 97 were re-assessed 9 years later on average. RESULTS: Out of 195 patients hospitalised for AN between April 1996 and May 2002, 29 had required transfer to intensive care. Mortality at 9 years was 20 times higher in the group having been transferred to intensive care, irrespective of the duration of follow-up. CONCLUSION: The clinical seriousness of the somatic condition during hospitalisation for AN is a risk factor for excess mortality in the medium term.


Assuntos
Anorexia Nervosa/mortalidade , Adolescente , Anorexia Nervosa/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Fatores de Risco , Índice de Gravidade de Doença , Fatores de Tempo , Adulto Jovem
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