Anorexia nervosa in adolescents: evolution of weight history and impact of excess premorbid weight.

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.

Sleep duration, quality of life and depression in adolescents: a school-based survey.

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.

Renal injury in pediatric anorexia nervosa: a retrospective study.

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.

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.

Marfan syndrome is an autosomal dominant disorder mainly caused by mutations within FBN1 gene. The disease displays large variability in age of onset or severity and very poor phenotype/genotype correlations have been demonstrated. We investigated the hypothesis that phenotype severity could be related to the variable expression level of fibrillin-1 (FBN1) synthesized from the wild-type (WT) allele. Quantitative reverse-transcription and polymerase chain reaction was used to evaluate FBN1 levels in skin fibroblasts from 80 Marfan patients with premature termination codons and in skin fibroblasts from 80 controls. Results in controls showed a 3.9-fold variation in FBN1 mRNA synthesis level between subjects. A similar 4.4-fold variation was found in the Marfan population, but the mean level of FBN1 mRNA was a half of the control population. Differential allelic expression analysis in Marfan fibroblasts showed that over 90% of FBN1 mRNA was transcribed from the wild allele and the mutated allele was not detected. In the control population, independently of the expression level of FBN1, we observed steady-state equilibrium between the two allelic-mRNAs suggesting that FBN1 expression mainly depends on trans-acting regulators. Finally, we show that a low level of residual WT FBN1 mRNA accounts for a high risk of ectopia lentis and pectus abnormality and tends to increase the risk of aortic dilatation.

Depressive symptoms among teenagers in the emergency department: prevalence estimate and concordance with parental perceptions.

PURPOSE: This study aims to estimate the prevalence of depressive symptoms among adolescents seen in hospital emergency departments and to investigate the concordance between self-reported adolescent depression and parental perceptions of their adolescents' health status. METHOD: A multicentre cross-sectional survey in three emergency departments receiving adolescents in Ile-de-France took place in 2010. All adolescents completed a questionnaire including the Adolescent Depression Rating Scale (ADRS) and a series of questions concerning somatisation and risk behaviours. Parents simultaneously completed a questionnaire collecting their perceptions of their adolescent's health status. RESULTS: The study included 346 adolescents, and of them, 320 were fully analysed. ADRS scores were in the normal range for 70.6 % of the sample (score of <3) (n=226); 19.4 % (n=62) showed moderate depressive symptoms (3 ≤ score<6), and 10.0 %, severe depressive symptoms (score of ≥ 6) (n=32). We observed a wide discrepancy between adolescent depression, determined by a score on a self-administered scale, and parental perceptions of it. CONCLUSION: Routine use of a self-administered questionnaire in emergency units could enable identification of adolescents with moderate or severe depressive symptoms. The present study confirms the importance of increasing parental awareness of their adolescent children's depressive symptoms.

Experience of adolescence in patients treated with GH during childhood.

OBJECTIVE: To assess quality of life (QoL) and self-esteem among older adolescents and young adults treated with growth hormone (GH) during childhood for partial or complete GH deficiency or small for gestational age (SGA) status. METHODS: Postal survey, including a general self-questionnaire and two QoL questionnaires (SF36 and QLS-H), conducted among patients treated with GH at the pediatric outpatient clinic of the Ambroise Pard University Hospital (Boulogne-Billancourt, France) during the last 20 years. RESULTS: Thirty five patients (53.8%) returned their questionnaires completed. Social adjustment and quality of life of patients evaluated was similar to the general population despite lower-than-average final height. However a negative impact on sexuality and relationships with members of the opposite sex was suggested by the later mean ages of first romantic kiss and first sexual intercourse (15.5 years and 19.0 years old, respectively). CONCLUSION: Among patients treated with GH during childhood, psychological impacts may persist in late adolescence. These results indicate a need for improved management of GH-treated children at puberty.

In malnourished adolescent with anorexia nervosa, Cockroft-Gault formula is the most relevant formula to estimate renal function.

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.

[Why assess the cost of childhood home accidents?]. / Pourquoi estimer le coût des accidents domestiques de l'enfant?

Injury cost is an epidemiological marker and evaluate the burden of a public health problem for Society. Cost analysis is a challenge, especially for indirect costs which represent the most important part of the economic burden. The cost knowledge allows accurate targets and supports the identification of the optimal injury prevention strategy regarding cost-benefit and cost-efficacy.

[Are children all equal when it comes to home accidents?]. / Les enfants sont-ils tous egaux face aux accidents domestiques?

Injuries are complex phenomena with multifactorial geneses, Interaction between host and agent is influenced by human and material environment. Social differences in injury risks are considerable and some mechanisms are strongly linked to social differences: drowning, falls, intoxications and burns. The knowledge of these specificities and the impact lead to select approaches to target high risk population. The less accessibility to prevention has to be taken in account in the prevention process.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected of being affected with Marfan syndrome or related disorders that had been referred to our laboratory for molecular diagnosis. We identified and report 23 mutations and 20 polymorphisms. Subsequently, we screened the TGFBR1 gene in the first 74 patients for whom no defect had been found, and identified 6 novel mutations and 12 polymorphisms. Mutation-carrying probands displayed at referral a large clinical spectrum ranging from the Loeys-Dietz syndrome and neonatal Marfan syndrome to isolated aortic aneurysm. Furthermore, a TGFBR1 gene mutation was found in a Shprintzen-Goldberg syndrome patient. Finally, we observed that the yield of mutation detection within the two genes was very low : 4.8% for classical MFS, 4.6% for incomplete MFS and 1% for TAAD in the TGFBR2 gene; 6.2%, 6.2% and 7% respectively in the TGFBR1 gene; in contrast to LDS, where the yield was exceptionally high (87.5%).

Iron metabolism in patients with anorexia nervosa: elevated serum hepcidin concentrations in the absence of inflammation.

BACKGROUND: Only a few studies based on small cohorts have been carried out on iron status in anorexia nervosa (AN) patients. OBJECTIVE: The aim of this study was to evaluate the role of hepcidin in hyperferritinemia in AN adolescents. DESIGN: Twenty-seven adolescents hospitalized for AN in the pediatric inpatient unit of Ambroise Paré Academic Hospital were enrolled in the study. The control group comprised 11 patients. Hematologic variables and markers of iron status, including serum hepcidin, were measured before and after nutritional rehabilitation. RESULTS: The mean age of patients was 14.4 y. Except for 2 AN patients and 1 control patient, all patients presented normal hemoglobin, vitamin B-12, and folate concentrations. Markers of inflammation and cytokines were normal throughout the study. None of the muscular lysis markers were elevated. Most AN patients had normal serum iron concentrations on admission. Serum ferritin concentrations were significantly higher in patients than in control subjects (198 compared with 49 µg/L, respectively; P < 0.001). The median hepcidin concentration was significantly higher in AN patients than in the control group (186.5 compared with 39.5 µg/L, respectively; P = 0.002). There was a highly significant correlation between ferritinemia and serum hepcidin concentrations (P < 0.0001). After nutritional rehabilitation, a significant reduction was observed (P = 0.004) in serum ferritin. Serum hepcidin analyzed in a smaller number of patients also returned to within the normal range. CONCLUSIONS: Hepcidin and ferritin concentrations were higher in the serum of AN patients, without any evidence of iron overload or inflammation. These concentrations returned to normal after nutritional rehabilitation. These results suggest that nutritional stress induced by malnourishment in the hepatocyte could be yet another mechanism that regulates hepcidin.

Spinal imaging contributes to the diagnosis of Marfan syndrome.

UNLABELLED: The diagnosis of Marfan syndrome (MFS) is defined by a combination of major and minor criteria, related to the different systems involved, according to the Ghent nosology of the spine. Spinal imaging can detect both skeletal (including scoliosis and spondylolisthesis) and neurological involvement (i.e. dural ectasia). The aim of the present study was to assess the interest of screening the rachis by conventional radiography CR and complementary imaging (computed tomography [CT] or magnetic resonance imaging [MRI]) in patients suspected of MFS, and to modelise the most relevant imaging procedure to diagnose MFS. METHODS: Evaluation of the sensitivity and specificity of CR of the lumbosacral spine versus sectional imaging for the detection of dural ectasia (DE) in a subgroup of 92 patients suspected of MFS. Retrospective analysis of the contribution of CR to the diagnosis of MFS in 1992 patients referred to our clinic. RESULTS: DE was detected by CR in 12 of the 92 patients (13%) and was always confirmed by CT or MRI. Complementary imaging alone detected 33 DE (35.9%). All patients with DE detected by CR were diagnosed with MFS. Among the 1992 patients, 591 were confirmed MFS; 117 patients had DE detected by CR (19,8%) while 12 (2,0%) were detected by complementary imaging. In MFS patients, 98 (16.6%) had significant scoliosis and 14 (2.4%) had spondylolisthesis. The positive predictive value of DE detected by CR for the diagnosis of MFS was 92.9% (95% IC: 86.8-96.4), and the negative predictive value was 74.6% (95% IC: 72.6-76.5). We conclude that spinal imaging is useful for the diagnosis of MFS.