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https://www.readbyqxmd.com/read/29666169/impact-of-transitional-care-on-endocrine-and-anthropometric-parameters-in-prader-willi-syndrome
#1
Anne-Cécile Paepegaey, Muriel Coupaye, Asma Jaziri, Florence Menesguen, Béatrice Dubern, Michel Polak, Jean-Michel Oppert, Maithe Tauber, Graziella Pinto, Christine Poitou
CONTEXT: The transition of patients with Prader-Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity, and cognitive and behavioral disabilities. OBJECTIVE: To assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received (n=31) or not (n=64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team...
April 17, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29624734/predominant-role-of-microglia-in-brain-iron-retention-in-sanfilippo-syndrome-a-pediatric-neurodegenerative-disease
#2
Vincent Puy, Walaa Darwiche, Stéphanie Trudel, Cathy Gomila, Christelle Lony, Laurent Puy, Thibaud Lefebvre, Sandrine Vitry, Agnès Boullier, Zoubida Karim, Jérôme Ausseil
Neuroinflammation and iron accumulation are hallmarks of a variety of adult neurodegenerative diseases. In Sanfilippo syndrome (mucopolysaccharidosis type III, MPSIII, a pediatric neurodegenerative disease that shares some features with adult neurodegenerative diseases), the progressive accumulation of heparan sulfate oligosaccharides (HSOs) induces microglia and astrocytes to produce pro-inflammatory cytokines leading to severe neuroinflammation. The objectives of the present study were (1) to measure the local iron concentration and to assess iron metabolism in the brain of a MPSIIIB murine model and (2) to identify the brain cells involved in this accumulation...
April 6, 2018: Glia
https://www.readbyqxmd.com/read/29623047/sympathetic-metabolic-adaptations-and-oxidative-stress-in-autism-spectrum-disorders-how-far-from-physiology
#3
Antonietta Messina, Vincenzo Monda, Francesco Sessa, Anna Valenzano, Monica Salerno, Ilaria Bitetti, Francesco Precenzano, Rosa Marotta, Francesco Lavano, Serena M Lavano, Margherita Salerno, Agata Maltese, Michele Roccella, Lucia Parisi, Roberta I Ferrentino, Gabriele Tripi, Beatrice Gallai, Giuseppe Cibelli, Marcellino Monda, Giovanni Messina, Marco Carotenuto
Autism spectrum disorders (ASD) is a complex and multifaceted neurobehavioral syndrome with no specific cause still identified, despite the worldwide increasing (prevalence for 1,000 children from 6.7 to 14.6, between 2000 and 2012). Many biological and instrumental markers have been suggested as potential predictive factors for the precocious diagnosis during infancy and/or pediatric age. Many studies reported structural and functional abnormalities in the autonomic system in subjects with ASD. Sleep problems in ASD are a prominent feature, having an impact on the social interaction of the patient...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29619157/glomerular-hyperfiltration-as-predictor-of-cardiometabolic-risk-factors-among-children-and-adolescents-the-childhood-and-adolescence-surveillance-and-prevention-of-adult-v-study
#4
Roya Kelishadi, Mostafa Qorbani, Farahnak Assadi, Mohammad Esmaeil Motlagh, Shirin Djalalinia, Ali Shahsavari, Hasan Ziaodini, Majzoubeh Taheri, Gita Shafiee, Azadeh Aminianfar, Sajjad Esmaeili, Tahereh Aminaei, Morteza Mansourian, Ramin Heshmat
Background: The prevalence of glomerular hyperfiltration and chronic kidney disease is increasing worldwide in parallel with obesity hypertension epidemic. The effect of increases in glomerular filtrations (GFR) in children with metabolic syndrome has not been studied. The purpose of the present study is to investigate the relationship between GFR and cardiometabolic risk factors in a large sample of pediatric population. Methods: In this nationwide survey, 3800 participants were selected by cluster random sampling from 30 provinces in Iran...
2018: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29607525/remission-of-loss-of-control-eating-and-changes-in-components-of-the-metabolic-syndrome
#5
Lisa M Shank, Marian Tanofsky-Kraff, Rachel M Radin, Lauren B Shomaker, Denise E Wilfley, Jami F Young, Sheila Brady, Cara H Olsen, James C Reynolds, Jack A Yanovski
OBJECTIVE: Pediatric loss of control (LOC) eating prospectively predicts the worsening of metabolic syndrome components. However, it is unknown if remission of LOC eating is associated with improvements in metabolic health. Therefore, we conducted a secondary analysis of a trial that enrolled adolescent girls with LOC eating, examining whether LOC remission (vs. persistence) at end-of-treatment was associated with changes in metabolic syndrome components at 6-month follow-up. METHOD: One hundred three adolescent girls (age 14...
April 1, 2018: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29604982/hiv-neuropathology
#6
Susan Morgello
Primary human immunodeficiency virus (HIV) neuropathologies can affect all levels of the neuraxis and occur in all stages of natural history disease. Some, like HIV encephalitis, HIV myelitis, and diffuse infiltrative lymphocytosis of peripheral nerve, reflect productive infection of the nervous system; others, like vacuolar myelopathy, distal symmetric polyneuropathy, and central and peripheral nervous system demyelination, are not clearly related to regional viral replication, and reflect more complex cascades of dysregulated host immunity and metabolic dysfunction...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29575286/planar-xanthomas-secondary-to-post-transplantation-cholangiopathy-in-a-16-month-old-boy
#7
Nirali Patel, Adam Norberg, Marcia Hogeling
Planar xanthomas in children represent rare dermatologic findings associated with abnormalities in lipid metabolism. While planar xanthomas in Alagille's syndrome have been well described in the literature, there have been no cases reported of eruptive xanthomas in pediatric liver transplant patients. Herein we report a case of a 16-month-old boy status post-liver transplantation who presents with planar xanthomas secondary to cholangiopathy. A brief review of xanthomas and the related literature is also provided...
March 25, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29563068/pediatric-endocrine-and-metabolic-diseases-and-proteomics
#8
Ioanna Kosteria, Christina Kanaka-Gantenbein, Athanasios K Anagnostopoulos, George P Chrousos, George Th Tsangaris
The principles of Predictive, Preventive and Personalized Medicine (PPPM) dictate the need to recognize individual susceptibility to disease in a timely fashion and to offer targeted preventive interventions and treatments. Proteomics is a state-of-the art technology- driven science aiming at expanding our understanding of the pathophysiologic mechanisms that underlie disease, but also at identifying accurate predictive, diagnostic and therapeutic biomarkers, that will eventually promote the implementation of PPPM...
March 18, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29558000/hemolytic-uremic-syndrome-with-dual-caution-in-an-infant-cobalamin-c-defect-and-complement-dysregulation-successfully-treated-with-eculizumab
#9
Ulkem Kocoglu Barlas, Hasan Serdar Kıhtır, Nilufer Goknar, Melike Ersoy, Nihal Akcay, Esra Sevketoglu
BACKGROUND: Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury. Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant mortality and high risk of progression to end-stage kidney disease. It is mostly caused by dysregulation of the alternative complement pathway. Cobalamin C (Cbl C) defect is a genetic disorder of cobalamin metabolism and is a rare cause of HUS. CASE-DIAGNOSIS/TREATMENT: We present a 6-month-old male infant who was admitted to the pediatric intensive care unit (PICU) due to restlessness, severe hypertension, anemia, respiratory distress, and acute kidney injury...
March 20, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29528815/updates-in-diagnosis-management-and-treatment-of-neuroblastoma
#10
Caroline C Swift, Meryle J Eklund, Jacqueline M Kraveka, Adina L Alazraki
Neuroblastoma is an embryonic tumor of the peripheral sympathetic nervous system. It is the most common extracranial solid tumor of childhood and accounts for up to 15% of all pediatric cancer fatalities. The manifestation of neuroblastoma is variable depending on the location of the tumor and on the presence or absence of paraneoplastic syndromes. The prognosis of neuroblastoma is also highly variable, ranging from spontaneous regression to widespread metastatic disease that is unresponsive to treatment. The age of the patient, stage of disease, histopathologic results, and multiple biologic factors contribute to the presurgical and pretreatment risk stratification of a patient with neuroblastoma...
March 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29505526/encephalopathy-associated-with-propofol-infusion-syndrome-a-case-report
#11
Xiaolin Li, Zhangning Zhao, Xiaomin Liu, Gaoting Ma, Mei-Jia Zhu
INTRODUCTION: Propofol infusion syndrome (PRIS) is a rare but potentially fatal complication of propofol infusion. It is clinically characterized by metabolic acidosis, refractory bradycardia, rhabdomyolysis, renal failure, hyperlipidemia, and hepatomegaly. Brain lesion was only reported once in a pediatric patient. We present the 1st adult case with colon polyp and cancer who was diagnosed with PRIS. Her brain magnetic resonance imaging (MRI) and computed tomography (CT) scans reveal prominent bilateral brain lesions, matching with the proposed pathophysiologic mechanism of the syndrome...
January 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29504307/lack-of-evidence-of-the-role-of-apoa5-3-utr-polymorphisms-in-iranian-children-and-adolescents-with-metabolic-syndrome
#12
Samaneh Salehi, Modjtaba Emadi-Baygi, Majdaddin Rezaei, Roya Kelishadi, Parvaneh Nikpour
BACKGROUND: Metabolic syndrome (MetS) is a complex and multifactorial disorder characterized by insulin resistance, dyslipidaemia, hyperglycemia, abdominal obesity, and elevated blood pressure. The apolipoprotein A5 (APOA5) gene variants have been reported to correlate with two major components of MetS, including low levels of high density lipoprotein cholesterol (HDL-C) and high levels of triglyceride. In the present study, we explored the associations between five single nucleotide polymorphisms (SNPs) of APOA5 gene and the MetS risk...
February 2018: Diabetes & Metabolism Journal
https://www.readbyqxmd.com/read/29503328/pediatric-movement-disorders
#13
REVIEW
Rahul Badheka, Narendra Kumar Barad, Charulata Savant Sankhla
Pediatric movement disorders are commonly encountered clinical entities in the pediatric outpatient department. These disorders are a heterogenous group of disorders and may represent an underlying genetic disorder, a metabolic disorder or a hypoxic-ischemic insult during the perinatal period. Hyperkinetic movement disorders are more common as compared to hypokinetic disorders. This is unlike the situation in adult movement disorders where hypokinetic disorders are more often seen. A child's nervous system is more prone to hypoxic-ischemic insults due to its higher metabolic demands and the presence of an immature blood-brain barrier...
March 2018: Neurology India
https://www.readbyqxmd.com/read/29500632/correction-to-effects-of-obesity-and-metabolic-syndrome-on-cardiovascular-outcomes-in-pediatric-kidney-transplant-recipients-a-longitudinal-study
#14
Kristen Sgambat, Sarah Clauss, K Y Lei, Jiuzhou Song, Shaik O Rahaman, Margaret Lasota, Asha Moudgil
As originally published, this article contained errors owing to oversights in typesetting. The article has now been amended accordingly.
March 2, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29497824/acute-kidney-injury-in-children-with-chronic-liver-disease
#15
Akash Deep, Romit Saxena, Bipin Jose
Acute kidney injury (AKI) is a common accompaniment in patients with liver disease. The causes, risk factors, manifestations and management of AKI in these patients vary according to the liver disease in question (acute liver failure, acute-on-chronic liver failure, post-liver transplantation or metabolic liver disease). There are multiple causes of AKI in patients with liver disease-pre-renal, acute tubular necrosis, post-renal, drug-induced renal failure and hepatorenal syndrome (HRS). Definitions of AKI in liver failure are periodically revised and updated, but pediatric definitions have still to see the light of the day...
March 1, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29497134/spontaneous-consecutive-esotropia
#16
Nathalie Voide, Matthieu P Robert
PURPOSE: Although less frequent than consecutive exotropia, consecutive esotropia is a well-known type of strabismus when it follows the surgical correction of an exotropia. Spontaneous conversion from initial constant, large-angle exotropia beyond the age of 3 months to esotropia or orthophoria, however, is not common. We describe a series of infants who presented a spontaneous evolution from a large-angle infantile exotropia to either an orthophoria or a spontaneously consecutive esotropia...
March 2, 2018: Eye
https://www.readbyqxmd.com/read/29479339/the-natural-history-of-metabolic-comorbidities-in-turner-syndrome-from-childhood-to-early-adulthood-comparison-between-45-x-monosomy-and-other-karyotypes
#17
Yael Lebenthal, Sigal Levy, Efrat Sofrin-Drucker, Nessia Nagelberg, Naomi Weintrob, Shlomit Shalitin, Liat de Vries, Ariel Tenenbaum, Moshe Phillip, Liora Lazar
Objective: Patients with Turner syndrome (TS) are at increased risk for metabolic disorders. We aimed to delineate the occurrence and evolution of metabolic comorbidities in TS patients and to determine whether these differ in 45,X monosomy and other karyotypes. Methods: A longitudinal and cross-sectional retrospective cohort study was conducted in a tertiary pediatric endocrine unit during 1980-2016. Ninety-eight TS patients, 30 with 45,X monosomy were followed from childhood to early adulthood...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29477186/practice-paper-of-the-academy-of-nutrition-and-dietetics-nutrition-intervention-and-human-immunodeficiency-virus-infection
#18
Amanda Willig, Lauri Wright, Theresa A Galvin
Nutrition is an integral component of medical care for people living with human immunodeficiency virus (HIV)/autoimmune deficiency syndrome (AIDS) (PLWHA). The Academy of Nutrition and Dietetics supports integration of medical nutrition therapy into routine care for this population. Fewer PLWHA experience wasting and undernutrition, while the prevalence of obesity and other chronic diseases has increased significantly. Improved understanding of HIV infection's impact on metabolism and chronic inflammation has only increased the complexity of managing chronic HIV infection...
March 2018: Journal of the Academy of Nutrition and Dietetics
https://www.readbyqxmd.com/read/29453589/validity-of-triglyceride-glucose-index-as-an-indicator-for-metabolic-syndrome-in-children-and-adolescents-the-caspian-v-study
#19
Pooneh Angoorani, Ramin Heshmat, Hanieh-Sadat Ejtahed, Mohammad Esmaeil Motlagh, Hasan Ziaodini, Majzoubeh Taheri, Tahereh Aminaee, Azam Goodarzi, Mostafa Qorbani, Roya Kelishadi
PURPOSE: The purpose of this study was to determine the cut-off values of triglycerides and glucose (TyG) index as one of the indirect indices for metabolic syndrome (MetS) in a pediatric population. METHODS: This national study was conducted in 2015 on 14400 students, aged 7-18 years. They were selected by random cluster sampling from 30 provinces of our country during the fifth survey of a national school-based surveillance program. MetS was defined based on the Adult Treatment Panel III (ATP III) criteria modified for the pediatric age group...
February 16, 2018: Eating and Weight Disorders: EWD
https://www.readbyqxmd.com/read/29429528/changes-in-lipid-metabolism-in-pediatric-patients-with-severe-sepsis-and-septic-shock
#20
Ana Carolina G Bermudes, Werther B de Carvalho, Patricia Zamberlan, Giovana Muramoto, Raul C Maranhão, Artur F Delgado
OBJECTIVES: Limited knowledge exists regarding the lipid profiles of critically ill pediatric patients with systemic inflammatory response syndrome. The aim of this study was to evaluate the relationship between the intensity of the inflammatory response and changes in the lipid profiles of critically ill pediatric patients admitted to a pediatric intensive care unit (PICU) with severe sepsis/septic shock. METHODS: This was a prospective and observational study at a 15-bed PICU at a public university hospital...
March 2018: Nutrition
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