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https://www.readbyqxmd.com/read/28635516/concentration-of-uhcl1-in-the-serum-of-children-with-acute-appendicitis-before-and-after-surgery-and-its-correlation-with-crp-and-prealbumin
#1
Ewa Matuszczak, Marzena Tylicka, Wojciech Dębek, Anna Tokarzewicz, Ewa Gorodkiewicz, Adam Hermanowicz
Ubiquitin-mediated protein degradation plays a crucial role in various cellular processes, including signal transduction, cell differentiation, and stress response. Ubiquitin C-terminal hydrolase 1 (UCHL1) is a unique deubiquitinating enzyme that has both hydrolase and ligase activities. The aim of this study was the determination of UCHL1 concentration in serum of children with appendicitis, before and after the surgery. MATERIAL AND METHODS: 42 children with acute appendicitis, who were managed at the Pediatric Surgery Department, between 2013 and 2014, were randomly included into the study (age 9 months up to 14 years, mean age 2...
February 27, 2017: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#2
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28616421/cystic-fibrosis-prevalence-among-a-group-of-high-risk-children-in-the-main-referral-children-hospital-in-iran
#3
Mohammad Reza Modaresi, Jamal Faghinia, Mohsen Reisi, Majid Keivanfar, Shiva Navaie, Javad Seyyedi, Faride Baharzade
BACKGROUND: Knowledge about cystic fibrosis (CF) in Iran is very limited. The objective of this study was to determine the prevalence of CF among a group of high-risk children with suggestive clinical features in the main referral hospital in Iran. MATERIALS AND METHODS: This study children consisted of 505 patients who had presented with one or more of the following symptoms: chronic or recurrent respiratory symptoms, gastrointestinal symptoms as rectal prolapse, steatorrhea, hepatobiliary disease as prolonged jaundice, failure to thrive, hyperglycemia and glycosuria, hypochloremic metabolic alkalosis, hypoprothrombinemia, anemia or edema, and positive family history of CF...
2017: Journal of Education and Health Promotion
https://www.readbyqxmd.com/read/28610912/characteristics-of-cardiomyopathy-in-alstr%C3%A3-m-syndrome-prospective-single-center-data-on-38-patients
#4
Alessandra Brofferio, Vandana Sachdev, Hwaida Hannoush, Jan D Marshall, Jürgen K Naggert, Stanislav Sidenko, Anna Noreuil, Arlene Sirajuddin, Joy Bryant, Joan C Han, Andrew E Arai, William A Gahl, Meral Gunay-Aygun
BACKGROUND: Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Complex metabolic disturbances are common and cardiomyopathy is a well-recognized feature in infants as well as in older children and adults. Although the mechanism of cardiomyopathy is not known, previous reports suggest that individuals with infantile-onset cardiac disease recover completely. METHODS: In this single center prospective series of 38 children and adults (age range 1...
May 30, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28606575/good-adherence-to-the-mediterranean-diet-reduces-the-risk-for-nash-and-diabetes-in-pediatric-patients-with-obesity-the-results-of-an-italian-study
#5
Claudia Della Corte, Antonella Mosca, Andrea Vania, Arianna Alterio, Salvatore Iasevoli, Valerio Nobili
OBJECTIVE: In the last decade, it was demonstrated that the Mediterranean diet (MD) represents an ideal diet for all age groups and has an important role in the prevention of metabolic and cardiovascular diseases, as well as nonalcoholic fatty liver disease (NAFLD). The aim of the present study was to analyze the association between adherence to the MD and NAFLD, with laboratory and histologic evaluation, in a group of children and adolescents with obesity. METHODS: We enrolled 243 patients with obesity referred to our department from March 2014 to November 2015...
July 2017: Nutrition
https://www.readbyqxmd.com/read/28604755/physical-exercise-intervention-at-school-improved-hepcidin-inflammation-and-iron-metabolism-in-overweight-and-obese-children-and-adolescents
#6
Susana Coimbra, Cristina Catarino, Henrique Nascimento, Ana Inês Alves, Ana Filipa Medeiros, Elsa Bronze-da-Rocha, Elísio Costa, Petronila Rocha-Pereira, Luísa Aires, André Seabra, Jorge Mota, Helena Ferreira Mansilha, Carla Rêgo, Alice Santos-Silva, Luís Belo
BACKGROUND: Obesity is often associated with iron deficiency in children and adolescents. We aimed to study the effect of 8-month physical exercise (PE) intervention in hepcidin and other markers of inflammation and in iron status in overweight/obese children and adolescents. METHODS: Seventy-three overweight/obese children and adolescents participated in the 8-month longitudinal study; they were divided in two groups according to their participation in an after-school PE program: PE (n=44) and control (n=29) groups...
June 12, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28598844/combustion-derived-nanoparticles-in-key-brain-target-cells-and-organelles-in-young-urbanites-culprit-hidden-in-plain-sight-in-alzheimer-s-disease-development
#7
Angélica González-Maciel, Rafael Reynoso-Robles, Ricardo Torres-Jardón, Partha S Mukherjee, Lilian Calderón-Garcidueñas
Millions of children and young adults are exposed to fine particulate matter (PM2.5) and ozone, associated with Alzheimer's disease (AD) risk. Mexico City (MC) children exhibit systemic and brain inflammation, low cerebrospinal fluid (CSF) Aβ1-42, breakdown of nasal, olfactory, alveolar-capillary, duodenal, and blood-brain barriers, volumetric and metabolic brain changes, attention and short-term memory deficits, and hallmarks of AD and Parkinson's disease. Airborne iron-rich strongly magnetic combustion-derived nanoparticles (CDNPs) are present in young urbanites' brains...
June 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28589948/associations-between-fatty-acids-and-low-grade-inflammation-in-children-from-the-lisaplus-birth-cohort-study
#8
C Harris, H Demmelmair, A von Berg, I Lehmann, C Flexeder, B Koletzko, J Heinrich, M Standl
BACKGROUND/OBJECTIVES: Assessing fatty acid (FA) composition in relation to inflammatory markers can shed light on the role of different FA and their metabolism in low-grade inflammation. Existing exploratory studies in children are scarce, and findings inconsistent. We hence aim to analyse associations of FA with common inflammatory markers, high-sensitivity C-reactive protein (hs-CRP) and interleukin-6 (IL-6), in 10-year-old children. SUBJECTS/METHODS: Complete data were available for 958 participants from the 10-year follow-up of the LISAplus (Influence of Lifestyle-Related Factors on the Immune System and the Development of Allergies in Childhood plus the Influence of Traffic Emissions and Genetics) birth cohort study...
June 7, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28585021/the-relationship-between-hyperthyrotropinemia-and-metabolic-and-cardiovascular-risk-factors-in-a-large-group-of-overweight-and-obese-children-and-adolescents
#9
G Radetti, G Grugni, F Lupi, N Marazzi, S Longhi, A Fanolla, A Sartorio
PURPOSE: Mild TSH elevations are frequently observed in obese patients, in the absence of any detectable thyroid disease. Our objective is to evaluate the relationship between the raised TSH levels and the biochemical and clinical consequences of obesity. METHODS: This is a retrospective cross-sectional study of a large population of obese children and adolescents. We evaluated 833 subjects (340 m, 493 f), aged 14.4 ± 2.5 (range 5.2-18.5) years, height SDS 0...
June 5, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28578066/microbial-metabolites-profile-during-in-vitro-human-colonic-fermentation-of-breakfast-menus-consumed-by-mexican-school-children
#10
Victor Manuel Zamora-Gasga, Efigenia Montalvo-González, Guadalupe Loarca-Piña, Pedro Alberto Vázquez-Landaverde, Juscelino Tovar, Sonia G Sáyago-Ayerdi
The nutrition transition promotes the development of childhood obesity. Currently, Mexico is affected by this serious public health problem. The nutritional and functional characterization of a whole menu has a number of advantages over the study of single nutrients. Since breakfast is considered the most important meal of the day, this study aimed to evaluate the metabolite profile produced by in vitro human colonic fermentation of the isolated indigestible fraction (IF) from three different Mexican breakfast (M-B) menus (Modified "MM-B", traditional "TM-B", and alternative "AM-B"), previously identified as commonly consumed by Mexican schoolchildren in Nayarit State, Mexico...
July 2017: Food Research International
https://www.readbyqxmd.com/read/28571015/insulin-like-growth-factors-and-metabolic-syndrome-in-obese-children
#11
Elena Inzaghi, Barbara Baldini Ferroli, Danilo Fintini, Armando Grossi, Valerio Nobili, Stefano Cianfarani
BACKGROUND/AIMS: Insulin-like growth factor (IGF)-I is related to cardiometabolic risk in adults, whereas the metabolic role of IGF-II is unclear. The aim of this study was to assess IGFs in obese children and correlate them with metabolic syndrome (MetS) components. METHODS: This is a retrospective study including 574 obese children (11.34 ± 3.16 years). All subjects underwent complete anthropometry and biochemical assessment. In a subgroup of 136 subjects, body composition was evaluated...
June 1, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28557176/genetic-variations-at-the-human-growth-hormone-receptor-ghr-gene-locus-are-associated-with-idiopathic-short-stature
#12
Christel Dias, Mara Giordano, Rosalie Frechette, Simonetta Bellone, Constantin Polychronakos, Laurent Legault, Cheri L Deal, Cynthia Gates Goodyer
GH plays an essential role in the growing child by binding to the growth hormone receptor (GHR) on target cells and regulating multiple growth promoting and metabolic effects. Mutations in the GHR gene coding regions result in GH insensitivity (dwarfism) due to a dysfunctional receptor protein. However, children with idiopathic short stature (ISS) show growth impairment without GH or GHR defects. We hypothesized that decreased expression of the GHR gene may be involved. To test this, we investigated whether common genetic variants (microsatellites, SNPs) in regulatory regions of the GHR gene region were associated with the ISS phenotype...
May 29, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28557140/diet-quality-of-children-post-liver-transplantation-does-not-differ-from-healthy-children
#13
Abeer S Alzaben, Krista MacDonald, Cheri Robert, Andrea Haqq, Susan M Gilmour, Jason Yap, Diana R Mager
Little has been studied regarding the diets of children following LTX. The study aim was to assess and compare dietary intake and DQ of healthy children and children post-LTX. Children and adolescents (2-18 years) post-LTX (n=27) and healthy children (n=28) were studied. Anthropometric and demographic data and two 24-hour recalls (one weekend; one weekday) were collected. Intake of added sugar, HFCS, fructose, GI, and GL was calculated. DQ was measured using three validated DQ indices: the HEI-C, the DGI-CA, and the DQI-I...
May 29, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28555633/low-birthweight-increases-the-likelihood-of-severe-steatosis-in-pediatric-non-alcoholic-fatty-liver-disease
#14
Elisabetta Bugianesi, Carla Bizzarri, Chiara Rosso, Antonella Mosca, Nadia Panera, Silvio Veraldi, Andrea Dotta, Germana Giannone, Massimiliano Raponi, Marco Cappa, Anna Alisi, Valerio Nobili
OBJECTIVES: Small for gestational age (SGA) is associated with an increased risk of non-alcoholic fatty liver disease (NAFLD). Our aim was to investigate the correlation of birthweight with the severity of liver damage in a large cohort of children with NAFLD. METHODS: Two hundred and eighty-eight consecutive Caucasian Italian overweight/obese children with biopsy-proven NAFLD were included in the study. We examined the relative association of each histological feature of NAFLD with metabolic alterations, insulin-resistance, I148M polymorphism in the patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene, and birthweight relative to gestational age...
May 30, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28542302/influence-of-catch-up-growth-on-spatial-learning-and-memory-in-a-mouse-model-of-intrauterine-growth-restriction
#15
Cristina Duran Fernandez-Feijoo, Cristina Carrasco Carrasco, Núria Villalmazo Francisco, Judit Cebrià Romero, Jose Ramon Fernández Lorenzo, J C Jiménez-Chillaron, Marta Camprubí Camprubí
BACKGROUND: Intrauterine growth restriction (IUGR) and rapid postnatal weight gain or catch up growth (CUG) increase the susceptibility to metabolic syndrome during adult life. Longitudinal studies have also revealed a high incidence of learning difficulties in children with IUGR. The aim of the present study was to investigate the effect of nutrition and CUG on learning memory in an IUGR animal model. We hypothesized that synaptic protein expression and transcription, an essential mechanism for memory consolidation, might be affected by intrauterine undernutrition...
2017: PloS One
https://www.readbyqxmd.com/read/28533125/markers-of-immune-mediated-inflammation-in-the-brains-of-young-adults-and-adolescents-with-type-1-diabetes-and-fatal-diabetic-ketoacidosis-is-there-a-difference
#16
William H Hoffman, Carol M Artlett, Dallas Boodhoo, Mary G F Gilliland, Luis Ortiz, Dries Mulder, David H T Tjan, Alvaro Martin, Alexandru Tatomir, Horea Rus
Due to the limited data on diabetic ketoacidosis and brain edema (DKA/BE) in children/adolescents and the lack of recent data on adults with type 1 diabetes (T1D), we addressed the question of whether neuroinflammation was present in the fatal DKA of adults. We performed immunohistochemistry (IHC) studies on the brains of two young adults with T1D and fatal DKA and compared them with two teenagers with poorly controlled diabetes and fatal DKA. C5b-9, the membrane attack complex (MAC) had significantly greater deposits in the grey and white matter of the teenagers than the young adults (p=0...
May 19, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28527212/apolipoprotein-e4-gender-body-mass-index-inflammation-insulin-resistance-and-air-pollution-interactions-recipe-for-alzheimer-s-disease-development-in-mexico-city-young-females
#17
Lilian Calderón-Garcidueñas, Suzanne M de la Monte
Given the epidemiological trends of increasing Alzheimer's disease (AD) and growing evidence that exposure and lifestyle factors contribute to AD risk and pathogenesis, attention should be paid to variables such as air pollution, in order to reduce rates of cognitive decline and dementia. Exposure to fine particulate matter (PM2.5) and ozone (O3) above the US EPA standards is associated with AD risk. Mexico City children experienced pre- and postnatal high exposures to PM2.5, O3, combustion-derived iron-rich nanoparticles, metals, polycyclic aromatic hydrocarbons, and endotoxins...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28520899/increased-urinary-trimethylamine-n-oxide-tmao-following-cryptosporidium-infection-and-protein-malnutrition-independent-of-microbiome-effects
#18
D T Bolick, J Mayneris-Perxachs, G L Medlock, G L Kolling, J Papin, J R Swann, R L Guerrant
Cryptosporidium infections have been associated with growth stunting even in the absence of diarrhea. Having previously detailed the effects of protein deficiency on both microbiome and metabolome in this model, we now describe the specific gut microbial and biochemical effects of Cryptosporidium infection. Protein deficient mice were infected with Cryptosporidium parvum oocysts for 6-13 days and compared to uninfected controls. Following infection there was an increase in the urinary excretion of choline- and amino acid-derived metabolites...
May 17, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28512724/congenital-pulmonary-alveolar-proteinosis-from-birth-to-ten-years-of-age
#19
Sandra Alavuk Kundović, Ljiljana Popović
Pulmonary alveolar proteinosis is a rare lung disease in which lipoproteinaceous material accumulates within the alveoli, interfering with gas exchange. The disease is classified into congenital, secondary, and acquired. The congenital form includes inborn errors of surfactant metabolism, lysinuric protein intolerance and mutations in the components of granulocyte-macrophage colony-stimulating factor receptor. The main symptoms are non-specific. The radiologic appearance of pulmonary alveolar proteinosis is bilateral, symmetric and perihilar airspace consolidation...
May 17, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28508131/muscle-wasting-in-chronic-kidney-disease
#20
Eduardo A Oliveira, Wai W Cheung, Kalodiah G Toma, Robert H Mak
Loss of lean body mass is a relevant component of the cachexia, or protein energy wasting (PEW), syndrome. Reduced muscle mass seems to be the most solid criterion for the presence of cachexia/PEW in patients with chronic kidney disease (CKD), and those with greater muscle mass loss have a higher risk of death. Children with CKD have many risk factors for lean mass and muscle wasting, including poor appetite, inflammation, growth hormone resistance, and metabolic acidosis. Mortality risks in patients with CKD increases as body mass index (BMI) and weight decreases...
May 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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