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1.
Arch Pediatr ; 31(3): 188-194, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38538465

ABSTRACT

BACKGROUND: Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8-10 years of age and a low-density lipoprotein cholesterol (LDL-C) target of <135 mg/dL. Longitudinal data from large databases on pharmacological management of pediatric HeFH are lacking. OBJECTIVE: Here, we describe treatment patterns and LDL-C goal attainment in pediatric HeFH using longitudinal real-world data. METHODS: This was a retrospective and prospective multicenter cohort study (2015-2021) of children with HeFH, diagnosed genetically or clinically, aged <18 years, and followed up in the National French Registry of FH (REFERCHOL). Data on the study population as well as treatment patterns and outcomes are summarized as mean±SD. RESULTS: We analyzed the data of 674 HeFH children (age at last visit: 13.1 ± 3.6 years; 82.0 % ≥10 years; 52.5 % females) who were followed up for a mean of 2.8 ± 3.5 years. Initiation of lipid-lowering therapy was on average at 11.8 ± 3.0 years of age for a duration of 2.5 ± 2.8 years. At the last visit, among patients eligible for treatment (573), 36 % were not treated, 57.1 % received statins alone, 6.4 % statins with ezetimibe, and 0.2 % ezetimibe alone. LDL-C was 266±51 mg/dL before treatment and 147±54 mg/dL at the last visit (-44.7 %) in treated patients. Regarding statins, 3.3 %, 65.1 %, and 31.6 % of patients received high-, moderate-, and low-intensity statins, respectively. Overall, 59 % of children on statin therapy alone and 35.1 % on bitherapy did not achieve the LDL-C goal; fewer patients in the older age group did not reach the treatment goal. CONCLUSION: Pediatric patients with FH followed up in specialist lipid clinics in France receive late treatment, undertreatment, or suboptimal treatment and half of them do not reach the therapeutic LDL-C goal. Finding a more efficient framework for linking scientific evidence to clinical practice is needed.


Subject(s)
Anticholesteremic Agents , Hydroxymethylglutaryl-CoA Reductase Inhibitors , Hypercholesterolemia , Hyperlipoproteinemia Type II , Adolescent , Child , Female , Humans , Male , Anticholesteremic Agents/therapeutic use , Cholesterol, LDL/therapeutic use , Cohort Studies , Ezetimibe/therapeutic use , Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use , Hyperlipoproteinemia Type II/drug therapy , Hyperlipoproteinemia Type II/epidemiology , Prospective Studies , Retrospective Studies
2.
Orphanet J Rare Dis ; 19(1): 84, 2024 Feb 23.
Article in English | MEDLINE | ID: mdl-38395939

ABSTRACT

BACKGROUND: The determinants of early-onset obesity (< 6 years) are not completely elucidated, however eating behavior has a central role. To date no study has explored eating behavior in children with severe, early-onset obesity. Self-administered questionnaire data from these children were examined to evaluate eating behavior and the etiology of early-onset obesity. METHODS: Children with severe, early-onset obesity (body mass index [BMI] > International Obesity Task Force [IOTF] 30) of different etiologies (hypothalamic obesity [HO], intellectual disability with obesity [IDO], common polygenic obesity [CO]) were prospectively included. BMI history and responses from the Dykens' Hyperphagia Questionnaire and an in-house Impulsivity Questionnaire at first visit were compared between groups. RESULTS: This cohort of 75 children (39 girls; mean age ± standard deviation [SD] 10.8 ± 4.4 years) had severe, early-onset obesity at an age of 3.8 ± 2.7 years, with a BMI Z-score of 4.9 ± 1.5. BMI history varied between the 3 groups, with earlier severe obesity in the HO group versus 2 other groups (BMI > IOTF40 at 3.4 ± 1.6 vs. 4.6 ± 1.6 and 8.4 ± 4.1 years for the IDO and CO groups, respectively [P < 0.01]). Absence of adiposity rebound was more prevalent in the HO group (87% vs. 63% and 33% for the IDO and CO groups, respectively [P < 0.01]). The Dykens' mean total score for the cohort was 22.1 ± 7.2 with no significant between-group differences. Hyperphagia (Dykens' score > 19) and impulsivity (score > 7) were found in 50 (67%) and 11 children (15%), respectively, with no difference between the HO, IDO and CO groups regarding the number of patients with hyperphagia (10 [67%], 14 [74%], and 26 [63%] children, respectively) or impulsivity (2 [13%], 1 [7%], and 8 [19%] children, respectively). Children with food impulsivity had significantly higher total and severity scores on the Dykens' Questionnaire versus those without impulsivity. CONCLUSION: The Dykens' and Impulsivity questionnaires can help diagnose severe hyperphagia with/without food impulsivity in children with early-onset obesity, regardless of disease origin. Their systematic use can allow more targeted management of food access control in clinical practice and monitor the evolution of eating behavior in the case of innovative therapeutic targeting hyperphagia.


Subject(s)
Hyperphagia , Obesity , Child , Female , Humans , Infant , Child, Preschool , Hyperphagia/complications , Obesity/etiology , Body Mass Index , Feeding Behavior , Impulsive Behavior , Surveys and Questionnaires
3.
Pediatr Gastroenterol Hepatol Nutr ; 26(5): 249-265, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37736220

ABSTRACT

Purpose: Infant regurgitation is associated with other functional gastrointestinal disorders and signs and symptoms that have a major impact on the quality of life of infants and their families. This study evaluated the safety, tolerance, and real-world effectiveness of an anti-regurgitation formula containing locust bean gum (LBG), prebiotics, and postbiotics to alleviate digestive symptoms beyond regurgitation. Methods: This 3-month study involved infants with regurgitation requiring the prescription of an anti-regurgitation formula according to usual clinical practice. Outcomes included evaluation of the evolution of stool consistency and frequency; occurrence of colic, constipation, and diarrhea; and assessment of regurgitation severity. Infant crying, parental assessment of infant well-being, and parental satisfaction with the stool consistency were also evaluated. Results: In total, 190 infants (average age: 1.9±1.1 months) were included. After three months, stool frequency and consistency remained within the normal physiological range, with 82.7% of infants passing one or two stools per day and 90.4% passing loose or formed stools. There was no significant increase in the number of infants with diarrhea, whereas a decrease was observed in the number of infants with constipation after 1 month (p=0.001) and with colic after both 1 and 3 months (p<0.001). Regurgitation severity and crying decreased and parental satisfaction with stool consistency, formula acceptability, infant well-being, and sleep quality increased. Monitoring of adverse events did not reveal any safety concerns. Conclusion: Formulas containing LBG, prebiotics, and postbiotics were well tolerated and provided an effective strategy for managing infant regurgitation and gastrointestinal discomfort.

4.
Arch Pediatr ; 30(6): 408-414, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37407324

ABSTRACT

INTRODUCTION: In France, approximately 100 obese adolescents undergo a bariatric procedure every year. To date, only data from laparoscopic adjustable gastric banding (LAGB) or sleeve gastrectomy (SG) have been published. Our objective was to report the outcomes of a series of French obese adolescents who underwent a Roux-en-Y gastric bypass (RYGB). METHODS: We included all obese adolescents aged 13-19 years who underwent RYGB in our department from 2008 with at least 2 years of follow-up after surgery. We analyzed the course of the anthropometric data, comorbidities, and subsequent adverse events. RESULTS: Starting in September 2008, out of 93 obese adolescents who requested bariatric surgery, 39 (35%) underwent a bariatric procedure. From these adolescents, 2-year follow-up data were available for 26 patients who had a RYGB. At the time of surgery, the mean patient age was 17.4 years (standard deviation [SD]=1.4) and the body mass index (BMI) was 52.0 kg/m² (SD=7.8). One patient was lost to follow-up. At 2 years after surgery,  the mean BMI was 35.7 kg/m² (SD=9.4) with a mean decrease in BMI of 31.9% (SD=11.6). Comorbidities improved for most of the patients: high blood pressure (2/2) and pseudotumor cerebri (1/1) were cured after surgery, and dyslipidemia improved globally. The complications observed were anemia, abdominal pain requiring celioscopy (n = 2), and oxalic nephrolithiasis. CONCLUSION: Only one third of the obese adolescents requesting bariatric surgery were operated on. Our series including exclusively obese adolescents who underwent an RYGB presents the results of this technique on weight loss and comorbidities; mechanical and nutritional complications remain uncommon. These results are similar to those obtained in studies of adult patients.


Subject(s)
Gastric Bypass , Laparoscopy , Obesity, Morbid , Adult , Humans , Adolescent , Gastric Bypass/adverse effects , Gastric Bypass/methods , Obesity, Morbid/surgery , Treatment Outcome , Retrospective Studies , Obesity
5.
Nutrients ; 15(5)2023 Feb 28.
Article in English | MEDLINE | ID: mdl-36904230

ABSTRACT

The first objective of infant formulas is to ensure the healthy growth of neonates and infants, as the sole complete food source during the first months of life when a child cannot be breastfed. Beyond this nutritional aspect, infant nutrition companies also try to mimic breast milk in its unique immuno-modulating properties. Numerous studies have demonstrated that the intestinal microbiota under the influence of diet shapes the maturation of the immune system and influences the risk of atopic diseases in infants. A new challenge for dairy industries is, therefore, to develop infant formulas inducing the maturation of immunity and the microbiota that can be observed in breastfed delivered vaginally, representing reference infants. Streptococcus thermophilus, Lactobacillus reuteri DSM 17938, Bifidobacterium breve (BC50), Bifidobacterium lactis Bb12, Lactobacillus fermentum (CECT5716), and Lactobacillus rhamnosus GG (LGG) are some of the probiotics added to infant formula, according to a literature review of the past 10 years. The most frequently used prebiotics in published clinical trials are fructo-oligosaccharides (FOSs), galacto-oligosaccharides (GOSs), and human milk oligosaccharides (HMOs). This review sums up the expected benefits and effects for infants of pre-, pro-, syn-, and postbiotics added to infant formula regarding the microbiota, immunity, and allergies.


Subject(s)
Infant Formula , Probiotics , Infant, Newborn , Female , Child , Humans , Infant , Breast Feeding , Milk, Human , Oligosaccharides/pharmacology
7.
J Clin Med ; 12(3)2023 Jan 25.
Article in English | MEDLINE | ID: mdl-36769573

ABSTRACT

Obepi-Roche 2020 by the "Ligue Contre l'Obésité" (League Against Obesity) estimated overweight and obesity prevalence in France. The adopted methodology was chosen to be as similar as possible to that of a series of quota-based surveys conducted every three years from 1997 to 2012 (Obepi-Roche studies). The 2020 survey was conducted online from 24th September to 5th October 2020 by the Odoxa polling institute on a sample of metropolitan French subjects aged 18 years or over. Participants (n = 9598) self-measured their height and weight according to detailed instructions. Prevalence estimates were produced for all categories of body mass index. The prevalence of excess weight was 47.3% (17.0% of subjects with obesity), with higher values in the north and east of France. When comparing these 2020 estimates to previous Obepi-Roche estimates in order to visualize trends since 1997, it appeared that overweight fluctuated around 30%, and obesity prevalence increased steadily at a rapid pace. The increase was even steeper in the youngest age groups and for severe and complex obesity. Given the slightly different methodologies between the 1997-2012 studies and the 2020 survey, the worrying trends in obesity prevalence since 1997 must be confirmed, calling for a reedition of the Obepi-Roche series.

8.
J Pediatr Gastroenterol Nutr ; 76(3): 331-337, 2023 03 01.
Article in English | MEDLINE | ID: mdl-36729656

ABSTRACT

BACKGROUND AND OBJECTIVES: Renal and/or urinary manifestations (RUM) have been reported in pediatric patients with inflammatory bowel disease (IBD) but their incidence is unknown. The aims of this study were to assess the prevalence and causes of these manifestations in children with IBD and determine the causal link with 5-aminosalicylic acid (5-ASA) treatment. METHODS: A retrospective observational study was performed with children with diagnosis of IBD. All children with RUM during follow-up and/or impaired renal function [estimated glomerular filtration rate (eGFR) < 90 mL/min/1.73 m 2 ] were identified. RESULTS: Of 228 included patients, 9 (3.9%) had a RUM during follow-up [follow-up: 5 years (1-12 years)] at a median age of 16 years (8-17 years). It concerned 7 of 171 patients with Crohn disease and 2 of 57 with ulcerative colitis. Seven patients were taking 5-ASA at the time of the RUM. Only 1 of them had an iatrogenic renal complication related to this treatment. Patients with RUM had a more severe disease with increased anti-tumor necrosis factor-α use ( P = 0.031), more abscesses ( P = 0.003), and a higher rate of digestive surgery ( P = 0.04). For the whole cohort, a significant decrease in eGFR was found during follow-up (121 vs 107 mL/min/1.73 m 2 , P < 0.001). At the end of follow-up, 38 of 202 (19%) patients had an eGFR < 90 mL/min/1.73 m 2 . CONCLUSION: In children with IBD, RUM can occur, independently of treatment with 5-ASA. During follow-up, a significant decrease in eGFR was observed. We suggest monitoring renal function in all patients with IBD.


Subject(s)
Colitis, Ulcerative , Crohn Disease , Inflammatory Bowel Diseases , Humans , Child , Adolescent , Prevalence , Inflammatory Bowel Diseases/epidemiology , Colitis, Ulcerative/diagnosis , Crohn Disease/diagnosis , Mesalamine/adverse effects , Kidney/physiology , Kidney/pathology , Retrospective Studies
9.
J Mark Access Health Policy ; 11(1): 2154418, 2023.
Article in English | MEDLINE | ID: mdl-36518150

ABSTRACT

Background: Clinician's choice of hypoallergenic formulas in the first-line management of cow's milk protein allergy (CMPA) should be informed by evidence on clinical efficacy and cost-effectiveness. Objective: We compare the cost-effectiveness of amino acid-based formula (AAF), extensively hydrolyzed casein formula with Lactobacillus rhamnosus Gorbach Goldin (EHCF+LGG), extensively hydrolyzed whey formula (EHWF), and rice hydrolyzed formula (RHF) in non-breastfed children in France. Methods: Immunotolerance and atopic manifestations' prevalence were based on a prospective non-randomized study with a 36-month follow-up. Resource utilization was sourced from a survey of French clinicians, and unit costs were based on national data. Costs and health consequences were discounted at 2.5% annually. Results were reported using the Collective and French National Health Insurance perspectives. Results: Children receiving EHCF+LGG were predicted to require less healthcare resources, given their reduced prevalence of CMPA symptoms at 3 years. In the base case, EHCF+LGG led to savings of at least €674 per child compared to AAF, EHWF, and RHF at 3 years, from both perspectives. Nutrition had the highest economic burden in CMPA, driven by hypoallergenic formulas and dietetic replacements costs. Results were robust to one-way and probabilistic sensitivity analyses. Conclusions: EHCF+LGG was associated with more symptom-free time, higher immune tolerance, and lower costs.

10.
J Pediatr ; 253: 18-24.e2, 2023 02.
Article in English | MEDLINE | ID: mdl-36049522

ABSTRACT

OBJECTIVE: To identify childhood and parental factors associated with initiation of statin therapy in children with heterozygous familial hypercholesterolemia (HeFH), including underlying genetic diagnosis or parental premature atherosclerotic cardiovascular disease (ASCVD). STUDY DESIGN: This multicenter cohort study included 245 HeFH child-parent pairs from the REFERCHOL national register (2014-2020). Demographic and clinical characteristics at the last visit were collected. Vascular disease in parents was defined as a history of ASCVD, and/or a coronary artery calcium score >100, and/or stenosis of >50% in at least carotid artery. Statistical analyses included descriptive analysis, logistic regression for univariate and multivariate effects of statins, and a sensitivity analysis combining the characteristics of children and parents. RESULTS: Among the 245 children in the study cohort, 135 (58%), with a mean age of 14 ± 3 years, were treated with a statin. In multivariable analysis, the predictive childhood factors associated with statin treatment were genetic diagnosis (OR, 2.5; 95% CI, 1.3 to 4.9; P = .01), older age (OR, 4.4; 95% CI, 1.8-10.6; P = .01), more than 2 visits (OR, 2.36; 95% CI, 1.18-4.73; P = .015), and longer duration of follow-up (OR, 1.3; 95% CI, 1.1-1.6; P < .001). The predictive parental factor associated with childhood treatment was the presence of vascular disease (OR, 2.4; 95% CI, 1.0-5.7; P = .04). CONCLUSIONS: HeFH confirmed by DNA testing during childhood and a history of vascular disease in parents were independently associated with statin treatment in children with HeFH. Genetic diagnosis may be useful for cardiovascular prevention in children.


Subject(s)
Atherosclerosis , Hydroxymethylglutaryl-CoA Reductase Inhibitors , Hypercholesterolemia , Hyperlipoproteinemia Type II , Humans , Child , Adolescent , Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use , Cohort Studies , Cholesterol, LDL , Hyperlipoproteinemia Type II/diagnosis , Hyperlipoproteinemia Type II/drug therapy , Hyperlipoproteinemia Type II/genetics , Hypercholesterolemia/complications , Atherosclerosis/etiology , Atherosclerosis/genetics
11.
Clin Transl Allergy ; 12(2): e12112, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35218323

ABSTRACT

BACKGROUND: Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated food allergy, with potential dehydration secondary to vomiting. Differences exist regarding culprit foods, and age of tolerance depending on the country of origin. We aimed at describing the characteristics of a French population of children with FPIES, and define risk factors for failure during challenge. METHODS: Data from 179 children who were referred for FPIES in two pediatric tertiary centers between 2014 and 2020 were retrospectively collected. The diagnosis of FPIES was based on international consensus guidelines. Clinical characteristics, culprit food, and age at resolution were assessed. Tolerance was defined as no adverse reaction after OFC or accidental exposure. RESULTS: In the 192 described FPIES, the age at first symptoms was 5.8 months old. The main offending foods were cow's milk (60.3%), hen's egg (16.2%), and fish (11.7%). Single FPIES was observed in 94.4% and multiple FPIES in 5.6% of cases. The age at resolution of FPIES was 2.2 years old, and resolution occurred later for fish than for milk (2.9 years vs. 2.0, p = 0.01). Severe acute FPIES was a risk factor for delayed resolution (RR: 3.3 [1.2-9.2]), but not IgE sensitization. Performing a food challenge within 12 months after the first reaction increased the risk of failure (OR: 2.6 [1.1-6.6]). CONCLUSION: In this French cohort of children with FPIES, the main culprit foods were ubiquitous. Rice, oat, and soy were rarely or not involved. Multiple FPIES was infrequent. Our data confirmed the overall good prognosis of FPIES, the later resolution of FPIES to fish and in the case of severe acute FPIES.

12.
Acta Paediatr ; 111(2): 403-410, 2022 Feb.
Article in English | MEDLINE | ID: mdl-34812549

ABSTRACT

AIM: To assess the impact of complementary feeding bottles given at maternity hospital and/or over the first month after discharge from the maternity ward on cow's milk allergy (CMA) risk in breastfed infants. METHODS: Case-control study involving infants aged 6-9 months and who were breastfed for at least 1 month. RESULTS: In 554 cases with a diagnosis of CMA and 211 controls, feeding bottles at maternity hospital, feeding bottles during the first month of life, avoidance of dairy products during pregnancy or breastfeeding, family history of allergy, intake of antibiotics and consumption of proton-pump inhibitors or antacids by the infant during the first month of life were associated with increased risk of CMA in a univariate model. In a multivariate model, only feeding bottle at maternity hospital (OR = 1.81 [1.27; 2.59]), family history of allergy (OR = 2.83 [2.01; 3.99]) and avoidance of dairy products during pregnancy or breastfeeding (OR = 5.62 [1.99; 15.87]) were independent risk factors of CMA. CONCLUSION: Complementary bottles given at maternity hospital to newborns who will be exclusively breastfed increases the later risk of CMA. Similarly, avoidance of dairy products during pregnancy or breastfeeding should be discouraged.


Subject(s)
Breast Feeding , Milk Hypersensitivity , Animals , Bottle Feeding , Case-Control Studies , Cattle , Female , Humans , Infant , Infant Nutritional Physiological Phenomena , Infant, Newborn , Milk Hypersensitivity/epidemiology , Pregnancy
13.
Clin Obes ; 11(6): e12480, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34558201

ABSTRACT

Mental health after bariatric surgery during adolescence has been little explored. This is a sensitive period in terms of self-image on which bariatric surgery could have negative effects because of the rapid and significant changes in morphology it induces. Previous studies have explored mental effects using questionnaires and only related to psychopathological disorders. The objective of our study was to complement these studies by exploring, via in-depth interviews, the adolescents' views on changes after bariatric surgery at psychological as well as socio-emotional levels. Fourteen adolescents with obesity were recruited in a French hospital 6-43 months after surgery. They participated in one-on-one interviews lasting an average of 45 minutes. A lexical analysis (using ALCESTE software© ) of their speech highlighted the most positive effects, particularly in terms of social relationships, physical activities, self-esteem and reduced stigma, along with less positive effects in terms of eating behaviour and skin. In terms of clinical implications, this study confirmed the value of bariatric surgery for adolescents at psychological and social levels and its contribution to their mental health. However, it also highlighted the importance of pre- and post-operative support.


Subject(s)
Bariatric Surgery , Obesity, Morbid , Adolescent , Humans , Mental Health , Obesity, Morbid/surgery , Postoperative Period , Self Concept
14.
J Magn Reson Imaging ; 54(5): 1393-1403, 2021 11.
Article in English | MEDLINE | ID: mdl-34155711

ABSTRACT

BACKGROUND: In severe obesity, left ventricular (LV) and right ventricular (RV) remodeling and contractile dysfunction have been documented, but less is known regarding left atrial (LA) dysfunction and its association with LV/RV remodeling, especially in children. PURPOSE: To assess the effects of severe childhood obesity on cardiac function by using multichamber strain analysis with MRI. STUDY TYPE: Prospective. SUBJECTS: Forty-five children aged 7-18 years (including 20 with severe obesity, defined as a body mass index values above the 99th percentile). FIELD STRENGTH: 5 T. SEQUENCE: Steady-state-free-precession (SSFP) images in short-axis views and longitudinal two- and four-chamber views. ASSESSMENT: Cardiac strain measurements were derived from standard SSFP cine images by using a dedicated MR imaging feature tracking software. Inter- and intra-rater reliability were evaluated. STATISTICAL TESTS: Independent sample t test, Spearman's correlation coefficient, principal component analysis, Bland-Altman analysis, and intra-class correlation coefficients (ICC). A P value <0.05 was considered statistically significant. RESULTS: As compared to children without obesity, those with obesity showed significantly reduced LA reservoir function (22.2% ± 6.4% vs. 33.8% ± 9.0%) and contractile function (5.4% ± 3.2% vs. 13.3% ± 8.0%) as well as significantly decreased absolute values for LA longitudinal strain in reservoir and contraction phases and LA radial motion fraction in reservoir and contraction phases. Children with severe obesity showed significantly reduced absolute RV radial motion fraction (-10.6% ± 2.9% vs. -18.2% ± 2.9%) and circumferential strain (-10.6% ± 2.9% vs. -16% ± 2.5%) as well as higher LV mass index (28.7% ± 5.1% vs. 21.7 ± 4.6 g/m2 ) along with significantly reduced LV ejection fraction (56.4% ± 3.9% vs. 60% ± 4.1%), LV radial strain (56% ± 6% vs. 61.8% ± 11.3%), and longitudinal strain (-17.8% ± 1.8% vs. -20.3% ± 3.2%). Reliability was good to excellent, with ICC ranging from 79.1% to 97.7%. DATA CONCLUSION: MR feature-tracking strain analysis revealed multichamber dysfunction in severely obese children with impaired LA reservoir and atrial contraction phases, which suggest an early loss in the compensatory ability of atrial contraction with severe obesity. LEVEL OF EVIDENCE: 2 TECHNICAL EFFICACY STAGE: 3.


Subject(s)
Obesity, Morbid , Pediatric Obesity , Adolescent , Child , Humans , Magnetic Resonance Imaging , Magnetic Resonance Imaging, Cine , Pediatric Obesity/complications , Pediatric Obesity/diagnostic imaging , Prospective Studies , Reproducibility of Results , Ventricular Function, Left
15.
J Clin Endocrinol Metab ; 106(10): 2991-3006, 2021 09 27.
Article in English | MEDLINE | ID: mdl-34097736

ABSTRACT

CONTEXT: Unlike homozygous variants, the implication of heterozygous variants on the leptin-melanocortin pathway in severe obesity has not been established. OBJECTIVE: To describe the frequency, the phenotype, and the genotype-phenotype relationship for heterozygous variants in LEP, LEPR, POMC, and PCSK1 in severe obesity. METHODS: In this retrospective study, genotyping was performed on at least 1 of the LEP, LEPR, POMC, and PCSK1 genes in 1486 probands with severe obesity (600 children, 886 adults). The phenotype was collected in 60 subjects with heterozygous variants and 16 with homozygous variants. We analyzed variant frequency, body mass index (BMI), age of obesity onset, food impulsivity, and endocrine abnormalities. RESULTS: The frequency of subjects with homozygous variants was 1.7% (n = 26), and 6.7% (n = 100) with heterozygous variants. Adults with homozygous variants had a higher BMI (66 vs 53 kg/m2, P = .015), an earlier onset of obesity (0.4 vs 5.4 years, P < .001), more often food impulsivity (83% vs 42%, P = .04), and endocrine abnormalities (75% vs 26%, P < .01). The BMI was higher for subjects with high-impact heterozygous variants (61 vs 50 kg/m², P = .045) and those with a second heterozygous variant on the pathway (65 vs 49 kg/m², P < .01). In children, no significant differences were found for the age of obesity onset and BMI. CONCLUSION: Heterozygous variants in LEP, LEPR, POMC, and PCSK1 are frequent in severe obesity and sometimes associated with a phenotype close to that of homozygotes. These data suggest a systematic search for variants in severe early-onset obesity, to discuss therapy that targets this key pathway.


Subject(s)
Leptin/genetics , Obesity, Morbid/genetics , Pro-Opiomelanocortin/genetics , Proprotein Convertase 1/genetics , Receptors, Leptin/genetics , Adult , Age of Onset , Body Mass Index , Child , Female , Genetic Association Studies , Genetic Variation , Heterozygote , Homozygote , Humans , Male , Phenotype , Retrospective Studies , Signal Transduction/genetics
17.
Rev Prat ; 71(10): 1084-1087, 2021 12.
Article in French | MEDLINE | ID: mdl-35147361

ABSTRACT

Adequate dietary intake for infant development. The main nutrients required for an adequate infant de¬velopment, particularly neurological, are some lipids (essential fatty acids, arachidonic and docosahexaenoic acids), iron, calcium and vitamind. Appropriate energy intake is also necessary to allow growth. During the first 6 months, these needs are well covered by breastfeeding or infant formula. After complementary feeding intro¬duction, breastfeeding with iron supplementation or consumption of at least 700ml per day of infant for¬mula, addition of fat in each of the salty dishes and vitamin d supplementation allow to ensure all these basic needs. Contrary to popular belief, neither the reasonable addition of salt and sugar to infant meals, nor the excess protein intake induce any risk.


Les apports alimentaires indispensables au développement du nourrisson. Les principaux nutriments indispensables au bon développement, notamment neurologique, des nourrissons sont certains lipides (acides gras essentiels, acides arachidonique et docosahexaénoïque), le fer, le calcium et la vitamine  D. Des apports énergétiques suffisants sont aussi nécessaires pour assurer une croissance staturo-pondérale satisfaisante. Au cours des six premiers mois, ces besoins sont bien couverts par l'allaitement maternel ou une préparation infantile. Après la diversification, l'allaitement avec une supplémentation martiale ou la consommation d'au moins 700  mL par jour de lait infantile, l'ajout de graisses dans chacun des plats salés et la supplémentation en vitamine  D permettent d'assurer la totalité de ces besoins essentiels. Contrairement à une idée répandue, ni l'ajout raisonnable de sel et de sucre dans les plats du nourrisson ni l'excès d'apports protéiques n'exposent à un quelconque risque.


Subject(s)
Child Development , Diet , Breast Feeding , Child , Eating , Energy Intake , Female , Humans , Infant , Infant Nutritional Physiological Phenomena
20.
Pediatr Emerg Care ; 37(12): e1745-e1746, 2021 Dec 01.
Article in English | MEDLINE | ID: mdl-32118832

ABSTRACT

ABSTRACT: An 8-year-old child experienced abdominal pain and melena due to duodenal and ileal ulcerations throughout antiretroviral prophylactic treatment after a needlestick injury. Mild to moderate adverse effects often occur with lamivudine and zidovudine, but more severe adverse effects such as intestinal ulcers resulting in melena after a prophylactic antiretroviral treatment may question the safety of the current guidelines.


Subject(s)
Anti-HIV Agents , Drug-Related Side Effects and Adverse Reactions , HIV Infections , Anti-HIV Agents/adverse effects , Child , HIV Infections/complications , HIV Infections/drug therapy , Humans , Lamivudine/therapeutic use , Zidovudine/therapeutic use
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