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https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#1
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#2
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28893745/a-new-risk-locus-in-chchd5-for-hypertension-and-obesity-in-a-chinese-child-population-a-cohort-study
#3
Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu, Jie Mi
OBJECTIVE: Coiled-coil-helix-coiled-coil-helix domain containing 5 (CHCHD5), a mitochondrial protein, is involved in the oxidative folding process in the mitochondrial intermembrane space. A previous study identified a hypertension-related single nucleotide polymorphism (SNP), rs3748024, in CHCHD5 in adults, but there are no reports regarding the association between CHCHD5 and obesity, which is a known risk factor for hypertension. The aim of the present study is to investigate the associations of the SNP rs3748024 with hypertension and obesity...
September 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28862935/what-is-the-relationship-between-dairy-intake-and-blood-pressure-in-black-and-white-children-and-adolescents-enrolled-in-a-weight-management-program
#4
Diane M DellaValle, Janet Carter, Molly Jones, Melissa Howard Henshaw
BACKGROUND: The DASH (Dietary Approaches to Stop Hypertension) clinical trials and other studies have demonstrated a relationship between diet and cardiovascular outcomes in adults, yet little is known of this relationship in children. Childhood obesity has reached epidemic proportions in the United States, with similar increases in hypertension among this population. The purpose of our study was to examine the association between dairy intake and blood pressure (BP) in a cohort of children and adolescents (aged 4-17 years) enrolled in a weight management program...
August 14, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28860773/can-melatonin-prevent-or-improve-metabolic-side-effects-during-antipsychotic-treatments
#5
Maria-Cristina Porfirio, Juliana Paula Gomes de Almeida, Maddalena Stornelli, Silvia Giovinazzo, Diane Purper-Ouakil, Gabriele Masi
In the last two decades, second-generation antipsychotics (SGAs) were more frequently used than typical antipsychotics for treating both psychotic and nonpsychotic psychiatric disorders in both children and adolescents, because of their lower risk of adverse neurological effects, that is, extrapyramidal symptoms. Recent studies have pointed out their effect on weight gain and increased visceral adiposity as they induce metabolic syndrome. Patients receiving SGAs often need to be treated with other substances to counteract metabolic side effects...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28846756/prevalence-of-pathogenic-copy-number-variation-in-adults-with-pediatric-onset-epilepsy-and-intellectual-disability
#6
Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade
Importance: Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. Objectives: To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectual disability. Design, Setting, and Participants: In this cross-sectional study, genome-wide microarray was used to evaluate a cohort of 143 adults with unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toronto Western Hospital epilepsy outpatient clinic from January 1, 2012, through December 31, 2014...
August 28, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28820041/a-report-of-7-year-experience-on-pediatric-continuous-renal-replacement-therapy
#7
Ayse Filiz Yetimakman, Selman Kesici, Murat Tanyildiz, Umut Selda Bayrakci, Benan Bayrakci
BACKGROUND: Continuous renal replacement therapies (CRRTs) either as continuous venovenous hemofiltration (CVVH) or hemodiafiltration (CVVHD) are used frequently in critically ill children. Many clinical variables and technical issues are known to affect the result. The factors that could be modified to increase the survival of renal replacement are sought. As a contribution, we present the data on 104 patients who underwent CRRT within a 7-year period. MATERIALS AND METHOD: A total of 104 patients admitted between 2009 and 2016 were included in the study...
January 1, 2017: Journal of Intensive Care Medicine
https://www.readbyqxmd.com/read/28816920/similar-metabolic-innate-immunity-and-adipokine-profiles-in-adult-and-pediatric-sepsis-versus-systemic-inflammatory-response-syndrome-a-pilot-study
#8
Theonymfi Tavladaki, Anna Maria Spanaki, Helen Dimitriou, Efmorfia Kondili, Christianna Choulaki, Dimitris Georgopoulos, George Briassoulis
OBJECTIVES: To examine whether the septic profiles of heat shock protein 72, heat shock protein 90α, resistin, adiponectin, oxygen consumption, CO2 production, energy expenditure, and metabolic pattern, along with illness severity, nutritional, and inflammatory indices, differ between adult and pediatric patients compared with systemic inflammatory response syndrome and healthy controls. To evaluate whether these biomolecules may discriminate sepsis from systemic inflammatory response syndrome in adult and pediatric patients...
August 12, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28806468/an-overview-of-hemophagocytic-lymphohistiocytosis
#9
Ysabella M Esteban, Jill L O de Jong, Melissa S Tesher
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome characterized by a dysregulated hyperinflammatory response associated with aberrant activation of lymphocytes and macrophages that results in hypercytokinemia. It is classically divided into two types: (1) primary or familial HLH and (2) secondary HLH. Familial HLH is generally an autosomal recessive condition, whereas secondary HLH is usually associated with infectious diseases, autoinflammatory and autoimmune diseases (where it is more commonly known as macrophage activation syndrome), malignancy, immunosuppression, hematopoietic stem cell transplantation, organ transplantation, HIV infection, and metabolic diseases...
August 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28796426/vitamin-d-levels-in-smith-lemli-opitz-syndrome
#10
Miyad Movassaghi, Simona Bianconi, Richard Feinn, Christopher A Wassif, Forbes D Porter
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome caused by mutations in the 7-dehydrocholesterol reductase gene. This inborn error of cholesterol synthesis leads to elevated concentrations of 7-dehydrocholesterol (7-DHC). 7-DHC also serves as the precursor for vitamin D synthesis. Limited data is available on vitamin D levels in individuals with SLOS. Due to elevated concentrations of 7-DHC, we hypothesized that vitamin D status would be abnormal and possibly reach toxic levels in patients with SLOS...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28792718/mdr-1-and-cyp3a5-polymorphisms-in-pediatric-idiopathic-nephrotic-syndrome-impact-on-susceptibility-and-response-to-steroids-preliminary-results
#11
Amira Moussa, Sameh Mabrouk, Haithem Hamdouni, Maroua Ajmi, Miniar Tfifha, Asma Omezzine, Saoussen Abroug, Ali Bouslama
BACKGROUND: Oral steroid treatment is the first line of therapy for childhood nephrotic syndrome (NS). However, resistance to this treatment has been observed in some patients. Here, we investigated the association of two steroid metabolism-related genes with susceptibility to childhood NS and the steroid response. METHODS: We genotyped the single nucleotide polymorphisms (SNP) of MDR-1 [C1236T (rs1128503), G2677T/A (rs2032582), and C3435T (rs1045642)] and the CYP3A5 gene (A6986G) in 63 NS patients and 110 age and gender matched controls by PCR-RFLP...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28776381/insulin-resistance-and-the-metabolic-syndrome-are-related-to-the-severity-of-steatosis-in-the-pediatric-population-with-obesity
#12
Esther Ubiña-Aznar, Leopoldo Tapia-Ceballos, José Miguel Rosales-Zabal, Rocío Porcel-Chacón, Francisco Poveda-Gómez, Carmen Lozano-Calero, Carmen Ortiz-Cuevas, Francisco Rivas-Ruiz, Andrés Sánchez Cantos, José María Navarro Jarabo
BACKGROUND: To determine the factors associated with an increased risk for severe steatosis (SS) and establish the Homeostatic Model Assessment-Insulin Resistance (HOMA-IR) as a screening tool. METHODS: A cross-sectional study was performed in obese children to assess the relationship between the metabolic syndrome (MetS) and glucose metabolism alterations (GMA) and the risk for severe steatosis. RESULTS: A total of 94 children (51 males) aged from six to 14 years were included...
August 4, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28774273/thrombotic-microangiopathy-associated-with-valproic-acid-toxicity
#13
Sean A Hebert, Timothy P Bohan, Christian L Erikson, Rita D Swinford
BACKGROUND: Thrombotic microangiopathy (TMA) is a serious, sometimes life-threatening disorder marked by the presence of endothelial injury and microvascular thrombi. Drug-induced thrombotic microangiopathy (DI-TMA) is one specific TMA syndrome that occurs following drug exposure via drug-dependent antibodies or direct tissue toxicity. Common examples include calcineurin inhibitors Tacrolimus and Cyclosporine and antineoplastics Gemcitabine and Mitomycin. Valproic acid has not been implicated in DI-TMA...
August 3, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28759667/early-life-epilepsies-and-the-emerging-role-of-genetic-testing
#14
Anne T Berg, Jason Coryell, Russell P Saneto, Zachary M Grinspan, John J Alexander, Mariana Kekis, Joseph E Sullivan, Elaine C Wirrell, Renée A Shellhaas, John R Mytinger, William D Gaillard, Eric H Kossoff, Ignacio Valencia, Kelly G Knupp, Courtney Wusthoff, Cynthia Keator, William B Dobyns, Nicole Ryan, Tobias Loddenkemper, Catherine J Chu, Edward J Novotny, Sookyong Koh
Importance: Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established. Objective: To provide a contemporary account of the patterns of use and diagnostic yield of genetic testing for early-life epilepsies. Design, Setting, and Participants: In this prospective cohort, children with newly diagnosed epilepsy with an onset at less than 3 years of age were recruited from March 1, 2012, to April 30, 2015, from 17 US pediatric hospitals and followed up for 1 year...
September 1, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28739653/the-metabolic-syndrome-in-children-and-adolescents-shifting-the-focus-to-cardiometabolic-risk-factor-clustering
#15
Sheela N Magge, Elizabeth Goodman, Sarah C Armstrong
Metabolic syndrome (MetS) was developed by the National Cholesterol Education Program Adult Treatment Panel III, identifying adults with at least 3 of 5 cardiometabolic risk factors (hyperglycemia, increased central adiposity, elevated triglycerides, decreased high-density lipoprotein cholesterol, and elevated blood pressure) who are at increased risk of diabetes and cardiovascular disease. The constellation of MetS component risk factors has a shared pathophysiology and many common treatment approaches grounded in lifestyle modification...
July 24, 2017: Pediatrics
https://www.readbyqxmd.com/read/28737859/association-between-dietary-glycemic-load-and-metabolic-syndrome-in-obese-children-and-adolescents
#16
Angela Cornejo-Monthedoro, Isel Negreiros-Sánchez, Carlos Del Águila, Marlit Ysla-Marquillo, Percy Mayta-Tristán
OBJETIVE: To study the association between the metabolic syndrome (MS) and the glycemic load (GL) of food intake among obese children and adolescents seen in consultation by the endocrinology team in a pediatric referral hospital in Lima, Peru. POPULATION AND METHOD: Cross-sectional study among obese children and adolescents (body mass index ≥ 95 percentile), 10-15 years old. The MS was classified according to criteria of the International Diabetes Federation...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28737569/elevated-hemoglobin-level-is-associated-with-advanced-fibrosis-in-pediatric-nonalcoholic-fatty-liver-disease
#17
Valentina Giorgio, Antonella Mosca, Arianna Alterio, Anna Alisi, Antonio Grieco, Valerio Nobili, Luca Miele
OBJECTIVES: Hemoglobin (Hb) and red blood cell distribution width (RDW) have been reported to be a risk marker of metabolic syndrome and nonalcoholic fatty liver disease (NAFLD). No study exists on pediatric populations. We aimed to determine the association between hematological parameters, and the severity of disease in children with biopsy-proven NAFLD. METHODS: A total of 117 children (85 boys, mean age 12 years) with ultrasound evidence of NAFLD undergoing liver biopsy for diagnosis of nonalcoholic steatohepatitis (NASH), were prospectively enrolled between January 2011 and May 2013 in the setting of a tertiary care center...
August 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28708597/mri-based-evaluation-of-multiorgan-iron-overload-is-a-predictor-of-adverse-outcomes-in-pediatric-patients-undergoing-allogeneic-hematopoietic-stem-cell-transplantation
#18
Natalia Maximova, Massimo Gregori, Giulia Boz, Roberto Simeone, Davide Zanon, Giulia Schillani, Floriana Zennaro
The medical records of 44 pediatric patients who underwent allogeneic transplantation from 2011 to 2015 were retrospectively reviewed. Magnetic resonance imaging was used to measure iron concentrations in the liver, spleen, pancreas and bone. These patients were divided into two groups, 18 with non-elevated (< 100 μmol/g; Group 1) liver iron concentration before transplantation and 26 with elevated (> 100 μmol/g; Group 2) concentration . We compared transplant-related outcomes in the two groups. Iron overload was a negative prognostic risk factor for sinusoidal obstruction syndrome (OR = 17), osteoporosis (OR = 6...
July 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28693789/real-life-glycemic-control-in-children-with-type-2-diabetes-a-population-based-study
#19
Joseph Meyerovitch, Maya Zlotnik, Michal Yackobovitch-Gavan, Moshe Phillip, Shlomit Shalitin
OBJECTIVES: To characterize children and adolescents with type 2 diabetes mellitus (T2DM) insured by a large health maintenance organization, and to identify variables associated with treatment quality and disease outcome. STUDY DESIGN: Children and adolescents diagnosed with T2DM over a 9-year period were identified from the database of Clalit Health Services, a large health maintenance organization in Israel (1 213 362 members aged 0-18 years). Demographic, anthropometric, clinical, and laboratory data were analyzed...
September 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28690234/-pcdh19-gene-mutations-lead-to-epilepsy-with-mental-retardation-limited-to-females-in-2-cases-and-literature-review
#20
Li Yang, Ahmed Arafat, Jing Peng, Chen Chen, Yuping Ma, Fei Yin
Epilepsy with mental retardation limited to females (EFMR) is a syndrome characterized by early onset heat-sensitive epilepsy of infancy or early childhood and generally limited to females, which previously reported that the cadherin gene superfamily subtype protocadherin 19 (PCDH19) gene is its pathogenic gene. We retrospectively analyzed the clinical data for 2 cases of EFMR patients with PCDH19 mutation diagnosed by Department of Pediatric Neurology of Xiangya Hospital, Central South University in 2015. Literature on PubMed, OMIM and HGMD relevant to this syndrome was reviewed, and the clinical characteristics were summarized accordingly...
June 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
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