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INTRODUCTION: The prevalence of type 1 diabetes is increasing worldwide. The advent of new monitoring devices has enabled tighter glycemic control. AIM: To study the impact of glucose monitoring devices on the everyday life of young children with type 1 diabetes (T1D) and their parents. METHODS: A questionnaire was addressed to parents of children with T1D under the age of 6 years with an insulin pump treated in one of the hospitals of the ADIM network in France between January and July 2020. RESULTS: Among the 114 families included in the study, 53% of parents (26/49) woke up every night to monitor blood glucose levels when their child had flash glucose monitoring (FGM), compared with 23% (13/56) of those whose child had continuous glucose monitoring (CGM). Overall, 81% of parents (86/108) found that glucose monitoring improved their own sleep and parents whose child had CGM were significantly more likely to report improved sleep (86% vs 73%, p = 0.006). Forty-nine percent of parents (55/113) declared that they (in 87% of cases, the mother only) had reduced their working hours or stopped working following their child's T1D diagnosis. Maternal unemployment was significantly associated with the presence of siblings (p = 0.001) but not with glycemic control (p = 0,87). Ninety-eight percent of parents (105/107) think that glucose monitoring improves school integration. CONCLUSION: In these families of children with T1D, new diabetes technologies reduced the burden of care but sleep disruption remained common. Social needs evaluation, particularly of mothers, is important at initial diagnosis of T1D in children.
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Diabetes Mellitus Tipo 1 , Niño , Humanos , Preescolar , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Glucemia , Hipoglucemiantes/uso terapéutico , Automonitorización de la Glucosa Sanguínea , Monitoreo Continuo de Glucosa , PadresRESUMEN
Recently, many plant-derived bioactive agents have been included in dermo-cosmetics formulations. This leads to an extensive portfolio of innovative products with an expanded range of benefits, including anti-aging, antioxidant, hydrating and depigmenting. Although different technologies drawing on science and nature are used to create these high-performing molecules, there remains some debate about the mechanism of action of the natural bioactive ingredients within dermo-cosmetics. This review recapitulates the main biological mechanisms underlying the activity of natural active ingredients, with a specific focus on their synergistic use for the management of common, yet quite specific, skin conditions. A total of 28 plant-derived bioactives were selected from the Givaudan Active Beauty (Argenteuil, France) portfolio, a multinational company specializing in innovative natural actives research. An extensive literature review about their biological activity was conducted by a PubMed search using different keywords. No language or publication date restrictions were used. Givaudan Active Beauty data on file were also considered. The bioactive ingredients were described according to the pathogenetic mechanisms underlying 10 common skin conditions that dermo-cosmetics may address. Literature data have shown that plant-derived bioactives are involved in a wide range of biological mechanisms showing anti-inflammatory, antioxidant, and moisturizing properties, along with skin barrier protection and collagen synthesis activities. As a result, different combinations of bioactives within dermo-cosmetics can be defined to counteract simultaneously the different pathogenetic mechanisms underlying different skin conditions. Available literature supports the synergistic use of plant-derived bioactive agents within dermo-cosmetics as a viable and safe option for managing the most common skin conditions.
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Antioxidantes , Piel , Francia , TecnologíaRESUMEN
BACKGROUND: The aim of the present study was to assess the prevalence of overweight, obesity, and early adiposity rebound in nursery school children aged 3.5-4.5 years and to evaluate associations with deprivation. METHODS: A cross-sectional study was conducted in the Bouches-du-Rhône department in southeastern France. Data for all nursery school children aged 3.5-4.5 years were collected during systematic medical examinations. The prevalence of overweight and obesity was determined using French, International Obesity Task Force (IOTF), and World Health Organization reference values. A French ecological deprivation index was used to assess associations with deprivation. RESULTS: Among 19,295 children included in the study, the prevalence of overweight (IOTF-25 < BMI < IOTF-30) was 9.1% and the prevalence of obesity (BMI > IOTF-30) was 2.6%. Children attending nursery schools in the most disadvantaged areas were 4.3 times more likely to be affected by obesity than those from schools in the most advantaged areas (OR: 4.32; 95% CI: 2.98-6.25, p < 0.001), after adjusting for gender, age group, and school status. Early adiposity rebound was observed in 2131 of 9872 children (21.6%). CONCLUSION: Programs to prevent childhood overweight and obesity in France should be intensified and take account of major persistent social inequalities. Medical practitioners should learn to systematically assess BMI curve dynamics and early adiposity rebound.
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Sobrepeso , Obesidad Infantil , Adiposidad , Índice de Masa Corporal , Niño , Estudios Transversales , Humanos , Sobrepeso/epidemiología , Obesidad Infantil/epidemiología , Prevalencia , Escuelas de PárvulosRESUMEN
Neonatal screening for congenital hypothyroidism (CH) is based on the measurement of thyroid-stimulating hormone (TSH) in whole dried blood samples on filter paper in all newborns. The objective of screening for CH is to prevent mental retardation, which is irreversible in the event of a late diagnosis, by setting up prompt treatment (before day 15) with levothyroxine. The threshold value of TSH on filter paper on day 3 is 17 mIU/L in France in the GSP method (GSP, Genetic Screening Processor, Perkin Elmer): It is one of the highest thresholds used in the world. In many countries, the TSH threshold is between 6 and 12 mIU/L. Studies have found that a threshold of > 17 mIU/L may miss as much as 30% of cases of CH, with 30-80% of these being permanent CH. Recent studies suggest that mild CH (currently missed by the French TSH threshold) is associated with cognitive consequences if left untreated. An inverse relationship between TSH at screening (below the current threshold) and cognitive development at preschool or school age has been shown. These studies advocate for the evaluation of a lowering of the threshold of TSH on filter paper in France: (a) to determine the number of CH diagnoses with the new threshold and whether these "new cases" would be transitory or permanent; and (b) to analyze the cost-effectiveness of the strategy.
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Hipotiroidismo Congénito , Tamizaje Neonatal , Hipotiroidismo Congénito/complicaciones , Hipotiroidismo Congénito/diagnóstico , Francia , Humanos , Recién Nacido , Tamizaje Neonatal/métodos , TirotropinaRESUMEN
Short stature in children can be caused by congenital pituitary disorders involving at least one form of growth hormone deficiency. Clinical and radiological evaluations of the index case and family history assessments are essential to guide genetic diagnostic testing and interpret results. The first-line approach is panel testing of genes involved in pituitary development with variants known to be pathogenic in this context. It identifies a genetic cause in less than 10% of cases, however. Whole-exome and whole-genome sequencing techniques may provide original information but also raise new questions regarding the pathophysiological role of identified variants. These new tools can make genetic counselling more complex. The role of clinicians in these interpretations is therefore important. © 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
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Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, inherited metabolic diseases, and infections. However, despite thorough investigations, a cause cannot be determined in approximately 50% of cases. Here, we report three cases with recurrent ALF caused by NBAS and SCYL1 pathogenic variants. These patients did not present with any other phenotypic sign usually associated with NBAS and SCYL1 pathogenic variants. Two of them underwent liver transplantation and are healthy without recurrence of ALF. We propose NBAS and SCYL1 genetic analysis in children with unexplained fever-triggered recurrent ALF even without a typical phenotype.
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Proteínas Adaptadoras del Transporte Vesicular/genética , Proteínas de Unión al ADN/genética , Fallo Hepático Agudo/genética , Mutación , Proteínas de Neoplasias/genética , Niño , Preescolar , Femenino , Marcadores Genéticos , Pruebas Genéticas , Humanos , Lactante , Fallo Hepático Agudo/diagnóstico , Masculino , RecurrenciaRESUMEN
AIMS: This study aimed to evaluate whether hospital-based home care was desired by the parents of children diagnosed with type 1 diabetes (T1D) under the age of 5 years and their general practitioners, and to identify the main expectations and obstacles to its implementation. METHODS: This descriptive bicentric study in France was performed between November 2016 and November 2017. Data were collected by interviewing 57 families of children diagnosed with diabetes before the age of 5 years and the corresponding 30 general practitioners. The primary endpoint was the families' or general practitioners' acceptance of home-based care after diagnosis. RESULTS: A high proportion of families and physicians (86% and 93%, respectively) expressed a wish for hospital-based home care, most of whom considered it essential (79% and 87%, respectively). Low-income families were less likely to accept this care pathway (P<0.001). The families' expectations regarding home care were help with social care, the management of emergencies, and return to school. The physicians' main request was improved interprofessional collaboration. CONCLUSION: Hospital-based home care seems to be an acceptable transition after conventional care for children just diagnosed with T1D. Multidisciplinary support, personalized social care, and access to welfare benefits may improve acceptance rates, especially among low-income families.
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Actitud del Personal de Salud , Actitud Frente a la Salud , Diabetes Mellitus Tipo 1/terapia , Médicos Generales , Servicios de Atención a Domicilio Provisto por Hospital , Padres , Niño , Preescolar , Estudios Transversales , Diabetes Mellitus Tipo 1/diagnóstico , Femenino , Francia , Encuestas de Atención de la Salud , Humanos , Lactante , Masculino , Calidad de VidaRESUMEN
Vitamin D supplementation is essential for the entire population, especially during pregnancy and in the pediatric period. We report two case studies of full-term newborns who presented long-bone fractures associated with severe vitamin D deficiency transmitted to them by their mothers, even though maternal supplementation had been implemented according to the existing recommendations. These observations encourage the investigation of neonatal vitamin D deficiency in the presence of long-bone fractures in the absence of traumatic birth and the necessity of reenforcing the means of prevention and the selection of risk groups in order to adjust vitamin D supplementation during pregnancy individually.
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Fracturas del Fémur/etiología , Fracturas del Húmero/etiología , Complicaciones del Embarazo/diagnóstico , Deficiencia de Vitamina D/complicaciones , Femenino , Fracturas del Fémur/diagnóstico por imagen , Humanos , Fracturas del Húmero/diagnóstico por imagen , Recién Nacido , Embarazo , Radiografía , Deficiencia de Vitamina D/diagnósticoRESUMEN
OBJECTIVE: In hair care cosmetic products' evaluation, one commonly used method is to evaluate the hair appearance as a gold standard in order to determine the effect of an active ingredient on the final state of the hair via visual appreciation. Although other techniques have been proposed for a direct analysis of the hair fibres, they give only surface or structural information, without any accurate molecular information. A different approach based on confocal Raman spectroscopy has been proposed for tracking in situ the molecular change in the keratin directly in the human hair fibres. It presents a high molecular specificity to detect chemical interactions between molecules and can provide molecular information at various depths at the cortex and cuticle levels. METHODS: To evaluate the potential of confocal Raman spectroscopy in testing the efficiency of cosmetic ingredients on keratin structure, we undertook a pilot study on the effectiveness of a smoothing shampoo on natural human hair, by analysing α-helix and ß-sheet spectral markers in the Amide I band and spectral markers specific to the cystin sulfur content. RESULTS: We confirmed that an active proved to be effective on a gold standard decreases α-helix keratin conformation and promotes ß-sheet keratin conformation in the hair fibres. We also showed that treatment with the effective active decreases the intensity of covalent disulfide (S-S at 510 cm-1 ) cross-linking bands of cysteine. These data confirm that the effective active also acts on the tertiary structure of keratin. CONCLUSION: From these experiments, we concluded that the effective active has a smoothing effect on the human hair fibres by acting on α-helix and ß-sheet keratin conformation and on the tertiary structure of keratin. Based on these results, confocal Raman spectroscopy can be considered a powerful technique for investigating the influence of hair cosmetic ingredients on keratin structure in human hair fibres. Moreover, this analytical technique has the advantage of being non-destructive and label free; in addition, it does not require sample extraction or purification and it can be applied routinely in cosmetic laboratories.
OBJECTIF: Dans l'évaluation des produits cosmétiques pour le soin des cheveux, une méthode communément utilisée consiste à évaluer l'aspect des cheveux afin de déterminer l'effet d'un principe actif sur l'état final des cheveux via l'appréciation visuelle. Bien que d'autres techniques ont été proposées pour une analyse directe de la fibre capillaire, elles ne donnent que des informations de surface ou de structure, sans aucune information moléculaire précise. Une approche différente par la spectroscopie confocale Raman a été proposée pour le suivi in situ du changement moléculaire de la kératine directement dans les fibres de cheveux humains. Il présente une grande spécificité moléculaire, détecter les interactions chimiques entre les molécules et peut fournir des informations moléculaires à différents niveaux de profondeur du cortex et de la cuticule. MÉTHODES: Afin d'évaluer le potentiel de la spectroscopie Raman confocale pour tester l'efficacité des ingrédients cosmétiques sur la structure de la kératine, nous avons entrepris une étude pilote sur l'efficacité d'un shampooing lissant sur cheveux naturels, en analysant les marqueurs spectraux de l'hélice α et du feuillet ß dans la bande Amide I et les marqueurs spectraux spécifiques au contenu en sulfure-cystine. RÉSULTATS: Nous avons confirmé qu'un actif s'avérant efficace sur un gold standard diminue la conformation de la kératine en hélice α et favorise la conformation de la kératine en feuillet ß dans les fibres des cheveux. Nous avons également montré que le traitement avec l'actif efficace diminue l'intensité des bandes de cystéine réticulant sous forme de ponts disulfures covalents (S - S à 510 cm-1). Ces données confirment que l'actif efficace agit également sur la structure tertiaire de la kératine. CONCLUSION: À partir de ces expériences, nous avons conclu que l'actif efficace a un effet lissant sur les fibres du cheveu humain en agissant sur la conformation hélice α et feuillet ß de la kératine et sur la structure tertiaire de la kératine. Sur la base de ces résultats, la spectroscopie confocale Raman peut être considérée comme une technique puissante pour étudier l'influence des ingrédients cosmétiques sur la structure de la kératine dans les fibres de cheveux. De plus, cette technique analytique a l'avantage d'être non destructive et ne nécessite pas de marquage; de plus, elle ne nécessite pas d'extraction ou de purification des échantillons et peut être appliquée en routine dans les laboratoires de cosmétiques.
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Preparaciones para el Cabello , Cabello/química , Queratinas/química , Espectrometría Raman/métodos , Humanos , Conformación ProteicaRESUMEN
Tall stature is not a common motive for medical consultation, even though by definition 2.5 % of children in the general population are concerned. It is usually defined as height greater than+2 standard deviations (SD) using the appropriate growth chart for age and gender, or a difference greater than +2 SD between actual height and target height. With a patient presenting tall stature, the physician has to determine whether it is a benign feature or a disease. Indeed, making the diagnosis is essential for hormonal disease or genetic overgrowth syndromes. The past medical history including parents' height, prenatal and birth data, physical examination along with anthropometry (height, weight, head circumference, body mass index), and growth chart evaluation with the detailed growth pattern are generally sufficient to make the diagnosis such as familial tall stature, obesity, or early puberty. Bone age estimation may be helpful for some specific etiologies and is also necessary to help predict final adult height. After exclusion of common causes, further investigation is required. Sudden growth acceleration often reveals endocrine pathology such as early puberty, hyperthyroidism, or acrogigantism. Tall stature accompanied by dysmorphic features, congenital malformations, developmental delay, or a family medical history may be related to genetic disorders such as Marfan, Sotos, or Wiedemann-Beckwith syndromes. We relate here the most frequent etiologies of overgrowth syndromes.
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Gigantismo/diagnóstico , Gigantismo/etiología , Trastornos del Crecimiento/diagnóstico , Trastornos del Crecimiento/etiología , Adolescente , Algoritmos , Niño , Preescolar , Femenino , Humanos , MasculinoRESUMEN
INTRODUCTION: Diabetes insipidus is characterized by hypoosmotic polyuria related to deficiency of arginine-vasopressin (AVP) secretion (central diabetes insipidus, CDI) or renal insensitivity to AVP (nephrogenic diabetes insipidus, NDI). The water deprivation test with assessment of AVP activity is currently the gold standard for differential diagnosis in patients presenting polyuria-polydipsia syndrome. Nevertheless, it can be dangerous without proper surveillance and its interpretation may be challenging. Other markers have been suggested. Direct quantification of circulating AVP is not sufficient for diagnosis: vasopressin is unstable, analysis is complex. AVP comes from prohormone preprovasopressin with concomitant release of copeptin (C-terminal moiety) in the equimolar ratio. Copeptin is stable in vitro, with easy and rapid measurement (<4h). Past studies have shown greater sensitivity and specificity of copeptin versus AVP to discriminate etiologies of polyuria in adults, but its value has not been demonstrated in infants yet. OBSERVATION: A 7-month-old infant presented polyuria-polydipsia syndrome with poor weight gain. Laboratory tests pointed out hypernatremia (170mmol/L) and blood hyperosmolarity (330mOsm/L) with inappropriate urinary hypoosmolarity (168mOsm/L). Plasmatic copeptin measurement was found at a very high level, 303pmol/L (1-14pmol/L). DdAVP administration did not improve the polyuria, confirming the final diagnosis of NDI. Hyperhydration with a hypoosmolar diet normalized the hydration status and circulating levels of copeptin within 1 week. CONCLUSION: Copeptin, a stable peptide reflecting AVP secretion, could be a safer and faster biomarker for etiological diagnosis of polyuria-polydipsia syndrome in children. Before regularization of hydration status, a single baseline measurement may be enough to discriminate NDI from other etiologies without the water deprivation test.
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Diabetes Insípida/diagnóstico , Glicopéptidos/sangre , Biomarcadores/sangre , Diabetes Insípida/sangre , Diagnóstico Diferencial , Humanos , Lactante , Masculino , Polidipsia/diagnóstico , Polidipsia/etiología , Poliuria/diagnóstico , Poliuria/etiologíaRESUMEN
Infant food diversification has undergone a rapid succession of good practice recommendations in France, but there has been no assessment of pediatrician practices on food diversification. OBJECTIVE: To assess the practices of pediatricians in relation to current recommendations of the French Society of Pediatrics on infant food diversification. METHODS: This was an observational study conducted from 1 November 2014 to 31 March 2015. The study population consisted of 97 pediatricians in the Var department and 84 pediatric residents assigned to the University of Aix-Marseille in France. A questionnaire was sent by email or post to determine physician characteristics, food diversification methods in healthy children and those at atopic risk, and how the pediatric consultation was conducted. The expected answers were based on the most recent recommendations of the French Society of Pediatrics published in 2008, updated from 2003. In summary, breastfeeding is recommended up to 6 months. Food diversification can be started between 4 and 6 months in children with no allergy risk. Gluten, honey, legumes and cow's milk are introduced between 4 and 7 months, after 12 months and after 36 months, respectively. In atopic children, food diversification is delayed until after 6 months and the most allergenic foods (nuts, exotic fruits, peanuts, and shellfish) are introduced after the age of 12 months. RESULTS: Eighty-four responses were obtained (51%): 50 pediatricians and 34 pediatric residents. Sixteen items were classified depending on whether or not an update after 2003 existed. Over 80% of the physicians responded as recommended for the recently updated items for the age of introduction of "solid food in healthy children", "gluten", "cow's milk protein hydrolysates", and "the time until introduction of cow's milk in the atopic child". At best, 65% of physicians responded in accordance with recommendations for items without a recent update, age of introduction of "cow's milk", "milk desserts", "animal proteins", "fats", "vegetables", "use of a hypoallergenic infant formula", and "breastfeeding extension with atopic child". Pediatric residents had the same responses as pediatricians. Seventy-two physicians did not consider the allergenic status of the children to delay the introduction of the most allergenic foods. The lack of complete updating the introduction of solid foods schedule could explain the differences between pediatrician practices and recommendations. Moreover, old recommendations on allergenic food eviction are still available. CONCLUSION: Pediatricians and pediatric residents partially applied the current recommendations on the introduction of solid food.
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Dieta , Pediatras , Pautas de la Práctica en Medicina , Adulto , Femenino , Hipersensibilidad a los Alimentos/prevención & control , Francia , Adhesión a Directriz , Humanos , Lactante , Masculino , Persona de Mediana Edad , Guías de Práctica Clínica como Asunto , Encuestas y CuestionariosRESUMEN
Patients with Xq26.3 microduplication present with X-linked acrogigantism (X-LAG) syndrome, an early-childhood form of gigantism due to marked growth hormone (GH) hypersecretion from mixed GH-PRL adenomas and hyperplasia. The microduplication includes GPR101, which is upregulated in patients' tumor tissue. The GPR101 gene codes for an orphan G protein coupled receptor that is normally highly expressed in the hypothalamus. Our aim was to determine whether GPR101 loss of function mutations or deletions could be involved in patients with congenital isolated GH deficiency (GHD). Taking advantage of the cohort of patients from the GENHYPOPIT network, we studied 41 patients with unexplained isolated GHD. All patients had Sanger sequencing of the GPR101 gene and array comparative genome hybridization (aCGH) to look for deletions. Functional studies (cell culture with GH secretion measurements, cAMP response) were performed. One novel GPR101 variant, c.589 G>T (p.V197L), was seen in the heterozygous state in a patient with isolated GHD. In silico analysis suggested that this variant could be deleterious. Functional studies did not show any significant difference in comparison with wild type for GH secretion and cAMP response. No truncating, frameshift, or small insertion-deletion (indel) GPR101 mutations were seen in the 41 patients. No deletion or other copy number variation at chromosome Xq26.3 was found on aCGH. We found a novel GPR101 variant of unknown significance, in a patient with isolated GH deficiency. Our study did not identify GPR101 abnormalities as a frequent cause of GH deficiency.
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Enanismo Hipofisario/congénito , Enanismo Hipofisario/genética , Mutación/genética , Receptores Acoplados a Proteínas G/genética , Secuencia de Aminoácidos , Niño , Estudios de Cohortes , Simulación por Computador , Femenino , Humanos , Masculino , Receptores Acoplados a Proteínas G/química , Alineación de SecuenciaRESUMEN
BACKGROUND: Topical delivery of molecules into the human skin is one of the main issues in dermatology and cosmetology. Several techniques were developed to study molecules penetration into the human skin. Although widely accepted, the conventional methods such as Franz diffusion cells are unable to provide the accurate localization of actives in the skin layers. A different approach based on Raman spectroscopy has been proposed to follow-up the permeation of actives. It presents a high molecular specificity to distinguish exogenous molecules from skin constituents. METHODS: Raman micro-imaging was applied to monitor the skin penetration of hyaluronic acids (HA) of different molecular weights. The first step, was the spectral characterization of these HA. After, we have determined spectral features of HA by which they can be detected in the skin. In the second part, transverse skin sections were realized and spectral images were recorded. RESULTS: Our results show a difference of skin permeation of the three HA. Indeed, HA with low molecular weight (20-300 kDa) passes through the stratum corneum in contrast of the impermeability of high molecular weight HA (1000-1400 kDa). CONCLUSION: Raman spectroscopy represents an analytical, non-destructive, and dynamic method to evaluate the permeation of actives in the skin layers.
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Ácido Hialurónico/química , Ácido Hialurónico/farmacocinética , Absorción Cutánea/fisiología , Piel/química , Piel/metabolismo , Espectrometría Raman/métodos , Administración Cutánea , Adulto , Femenino , Humanos , Ácido Hialurónico/administración & dosificación , Técnicas In Vitro , Peso Molecular , Relación Estructura-ActividadRESUMEN
UNLABELLED: Pediatric obesity may induce multiple complications, including cardiovascular and metabolic problems in adulthood. It may also cause respiratory disorders, which are not usually the first-intention diagnosis by physicians. The aim of this study was to evaluate how investigations had been performed in obese children referred to Timone Pediatric Hospital. PATIENTS AND METHODS: A retrospective study of children referred to our department for severe non-syndromic obesity was conducted. The clinical features comprised history, anthropometric parameters, dietary habits, acanthosis nigricans, symptoms of obstructive sleep apnea syndrome (OSAS) as well as the paraclinical endocrine markers, blood gases, and sleep recordings. RESULTS: Of 102 patients (mean age, 10.5±3.3 years; BMI Z-score, 4.52±1.5), 29.4% had OSAS symptoms (n=30). Nine had a pathological polysomnography confirming OSAS. Eight of them required ventilation: these children were the most severe with an earlier weight gain (2.17±1.2 years vs. 4.0±2.2 years; P=0.01) and a higher BMI Z-score (7.2±2.3 vs. 4.3±1.1; P=0.027). Obesity hypoventilation syndrome (OHS) was diagnosed in 3.9% of these children (n=4). CONCLUSION: Diagnosis of OSAS and OHS, often overlooked in obese children, requires a systematic approach and early clinical detection of respiratory disorders. Better accessibility to sleep respiratory explorations would improve quality of care for these children.
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Obesidad Infantil/complicaciones , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/terapia , Adolescente , Índice de Masa Corporal , Niño , Femenino , Francia/epidemiología , Humanos , Masculino , Síndrome de Hipoventilación por Obesidad/diagnóstico , Síndrome de Hipoventilación por Obesidad/terapia , Polisomnografía/métodos , Prevalencia , Pruebas de Función Respiratoria , Terapia Respiratoria , Estudios Retrospectivos , Factores de Riesgo , Apnea Obstructiva del Sueño/epidemiología , Apnea Obstructiva del Sueño/etiologíaRESUMEN
We report on the case of a 3-year-old child presenting bilateral bronchiectasis due to recurrent pneumonia with esophageal achalasia. The final diagnosis was triple A syndrome. This presentation is particularly atypical and rare at this age.
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Insuficiencia Suprarrenal/complicaciones , Insuficiencia Suprarrenal/diagnóstico , Bronquiectasia/etiología , Acalasia del Esófago/complicaciones , Acalasia del Esófago/diagnóstico , Preescolar , Humanos , MasculinoRESUMEN
Over the last two decades, the understanding of the mechanisms involved in pituitary ontogenesis has largely increased. Since the first description of POU1F1 human mutations responsible for a well-defined phenotype without extra-pituitary malformation, several other genetic defects of transcription factors have been reported with variable degrees of phenotype-genotype correlations. However, to date, despite the identification of an increased number of genetic causes of isolated or multiple pituitary deficiencies, the etiology of most (80-90 %) congenital cases of hypopituitarism remains unsolved. Identifying new etiologies is of importance as a post-natal diagnosis to better diagnose and treat the patients (delayed pituitary deficiencies, differential diagnosis of a pituitary mass on MRI, etc.), and as a prenatal diagnosis to decrease the risk of early death (undiagnosed corticotroph deficiency for instance). The aim of this review is to summarize the main etiologies and phenotypes of combined pituitary hormone deficiencies, associated or not with extra-pituitary anomalies, and to suggest how the identification of such etiologies could be improved in the near future.
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Hipopituitarismo/diagnóstico , Hipopituitarismo/etiología , Animales , Predicción , Humanos , Hipopituitarismo/genética , Mutación/genética , Fenotipo , Hipófisis/crecimiento & desarrollo , Hipófisis/metabolismo , Hormonas Hipofisarias/genética , Hormonas Hipofisarias/metabolismoRESUMEN
Monitoring of blood glucose is usually reported to reduce the risk of hypoglycemia in term newborns with high risk factors and for prematurity in neonatal intensive care unit patients. Differential diagnosis has rarely been discussed. In the eutrophic term newborn, hypoglycemia remains rare and an etiological diagnosis must be made. Intensive management of neonatal hypoglycemia is required to prevent neurodevelopmental defects. Without evident cause or if hypoglycemia persists, a systematic review of possible causes should be made. We report isolated glucocorticoid deficiency diagnosed in an infant at 10 months of age. This boy had neonatal hypoglycemia and mild jaundice that had not been investigated. During his first 9 months of life, he presented frequent infections. At 10 months of age, febrile seizures occurred associated with shock, hypoglycemia, hyponatremia, mild hyperpigmentation, and coma. He was diagnosed with hypocortisolemia and elevated ACTH levels. Brain injury was revealed by MRI after resuscitation, with hypoxic-ischemic and hypoglycemic encephalopathy. The molecular studies demonstrated the presence of p.Asp107Asn and previously unreported frameshift p.Pro281GlnfsX9 MC2R gene mutations. A substitutive hormone therapy was provided and during a follow-up of 12 months no adrenal crisis was noted. We report an unusual case of familial glucocorticoid deficiency with severe neurological injury. This case demonstrates the importance of an appropriate etiological diagnosis in neonatal hypoglycemia.
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Insuficiencia Suprarrenal/complicaciones , Hipoglucemia/etiología , Errores Congénitos del Metabolismo Esteroideo/complicaciones , Humanos , Recién Nacido , MasculinoRESUMEN
The literature contains a substantial amount of information about factors that adversely influence the linear growth in up to 85% of patients undergoing haematopoietic SCT (HSCT) with TBI and/or cranial irradiation (CI) for acute leukaemia (AL). By contrast, only a few studies have evaluated the impact of growth hormone (GH) therapy on growth rate and final height (FH) in these children. We evaluated growth rates during the pre- and post-transplant periods to FH in a group of 25 children treated with HSCT (n=22), TBI (n=21) or/and CI (n=8) for AL and receiving GH therapy. At the start of GH treatment, the median height Z-score was -2.19 (-3.95 to 0.02), significantly lower than at AL diagnosis (P<0.001). Overall height gain from start of GH treatment to FH was 0.59Z (-2.72 to 2.93) with a median height Z-score at FH of -1.35 (-5.35 to 0.27). This overall height gain effect was greater in girls than in boys (P=0.04). The number of children with heights in the reference population range was greater after than before GH therapy (P=0.07). At FH the GVHD and GH treatments lasting <2 years were associated with shorter FH (P=0.02 and 0.05). We found a measurable beneficial effect of GH treatment on growth up to FH.
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Estatura/efectos de los fármacos , Estatura/efectos de la radiación , Irradiación Craneana/efectos adversos , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Hormona de Crecimiento Humana/administración & dosificación , Leucemia Mieloide Aguda/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Irradiación Corporal Total/efectos adversos , Niño , Preescolar , Femenino , Estudios de Seguimiento , Hormona de Crecimiento Humana/deficiencia , Humanos , Lactante , Masculino , Estudios RetrospectivosRESUMEN
UNLABELLED: The association of type 1 diabetes mellitus (DM) and epilepsy has been previously reported. However, the physiopathology of this association remains misunderstood. OBJECTIVE: To describe epilepsy combined with type 1 DM in children. METHODS: Retrospective monocentric study of all the epileptic and type 1 diabetic children consulting at the Timone University Hospital, Marseille, France. For each patient, the type of epilepsy and its electroclinical and radiographic characteristics were studied as well as the type of diabetes (biological characteristics, glycemic control), and the onset of these 2 diseases. RESULTS: Ten patients are reported. Five suffered from generalized epilepsy (4 idiopathic, 1 nonidiopathic) and 5 from focal epilepsy (4 non-idiopathic, 1 idiopathic). For most of these cases, presence of GAD (glutamic acid decarboxylase) autoantibodies were confirmed and epilepsy followed diabetes. CONCLUSIONS: The 2 most common types of epilepsy in this association are idiopathic generalized epilepsy and non-idiopathic temporal epilepsy. Several mechanisms could be involved (immune, glycemia, and genetic disorders).