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https://www.readbyqxmd.com/read/28285817/update-on-lysosomal-acid-lipase-deficiency-diagnosis-treatment-and-patient-management
#1
Carmen Camarena, Luis J Aldamiz-Echevarria, Begoña Polo, Miguel A Barba Romero, Inmaculada García, Jorge J Cebolla, Emilio Ros
Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. In patients with no enzyme function, the disease develops during the perinatal period and is invariably associated with death during the first year of life. In all other cases, the phenotype is heterogeneous, although most patients develop chronic liver diseases and may also develop an early cardiovascular disease...
May 10, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28215807/proteomic-responses-of-european-flounder-to-temperature-and-hypoxia-as-interacting-stressors-differential-sensitivities-of-populations
#2
Nicolas Pédron, Sébastien Artigaud, José-Luis Zambonino Infante, Nicolas Le Bayon, Grégory Charrier, Vianney Pichereau, Jean Laroche
In the context of global change, ectotherms are increasingly impacted by abiotic perturbations. Along the distribution area of a species, the populations at low latitudes are particularly exposed to temperature increase and hypoxic events. In this study, we have compared the proteomic responses in the liver of European flounder populations, by using 2-D electrophoresis. One southern peripheral population from Portugal vs two northern core populations from France, were reared in a common garden experiment. Most of the proteomic differences were observed between the two experimental conditions, a cold vs a warm and hypoxic conditions...
May 15, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28192119/leflunomide-induces-nad-p-h-quinone-dehydrogenase-1-enzyme-via-the-aryl-hydrocarbon-receptor-in-neonatal-mice
#3
Amrit Kumar Shrestha, Ananddeep Patel, Renuka T Menon, Weiwu Jiang, Lihua Wang, Bhagavatula Moorthy, Binoy Shivanna
Aryl hydrocarbon receptor (AhR) has been increasingly recognized to play a crucial role in normal physiological homeostasis. Additionally, disrupted AhR signaling leads to several pathological states in the lung and liver. AhR activation transcriptionally induces detoxifying enzymes such as cytochrome P450 (CYP) 1A and NAD(P)H quinone dehydrogenase 1 (NQO1). The toxicity profiles of the classical AhR ligands such as 3-methylcholanthrene and dioxins limit their use as a therapeutic agent in humans. Hence, there is a need to identify nontoxic AhR ligands to develop AhR as a clinically relevant druggable target...
March 25, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28173647/-analysis-of-newborn-screening-for-galactosemia-and-genotype-phenotype-of-confirmed-galatosemia-cases
#4
R L Yang, F Tong, F Hong, G L Qian, D W Wu, Z Y Zhao
Objective: To investigate the prevalence of galactosemia(GAL), and the characteristics of genotype and phenotype of newborns who were confirmed with GAL in newborn screening in Zhejiang province. Method: The number of all live births, newborn screened infants and all clinical data of confirmed newborns with GAL from October 2013 to March 2015 were retrospectively analyzed by reviewing the data of Zhejiang Province screening center database. And the characteristics of genes and the clinical data of GAL cases who were confirmed by correlative gene test and enzyme activity measurement were analyzed...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28139365/vitamin%C3%A2-a-in-pediatrics-an-update-from-the-nutrition-committee-of-the-french-society-of-pediatrics
#5
M Vidailhet, D Rieu, F Feillet, A Bocquet, J-P Chouraqui, D Darmaun, C Dupont, M-L Frelut, J-P Girardet, R Hankard, J-C Rozé, U Siméoni, D Turck, A Briend
Vitamin A (retinol) fulfills multiple functions in vision, cell growth and differentiation, embryogenesis, the maintenance of epithelial barriers and immunity. A large number of enzymes, binding proteins and receptors facilitate its intestinal absorption, hepatic storage, secretion, and distribution to target cells. In addition to the preformed retinol of animal origin, some fruits and vegetables are rich in carotenoids with provitamin A precursors such as β-carotene: 6μg of β-carotene corresponds to 1μg retinol equivalent (RE)...
January 27, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28130929/use-of-antenatal-corticosteroids-in-special-circumstances-a-comprehensive-review
#6
REVIEW
Everett F Magann, Kjell Haram, Songthip Ounpraseuth, Jan H Mortensen, Horace J Spencer, John C Morrison
The aim of this study was to determine, in pregnancies complicated by preterm premature rupture of membranes (PPROM), hypertension, intrauterine growth restriction, multi-fetal gestations and pregnancies 23-26 weeks and ≥34 weeks' gestation, whether antenatal corticosteroids benefit the fetus. Literature review using PubMed, Web of Science, Clinical trials.gov, Cochrane Database of Systematic Reviews (1990-2015). Search terms linked special circumstances with corticosteroids. Randomized clinical trials, retrospective and prospective cohort studies, and case control studies were reviewed...
April 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28028560/pathophysiology-prevention-treatment-and-outcomes-of-intestinal-failure-associated-liver-disease
#7
REVIEW
Noora H Al-Shahwani, David L Sigalet
BACKGROUND: Intestinal failure-associated liver disease (IFALD) remains a serious problem in the treatment of infants with nutritional problems and short bowel syndrome. METHODS: A review of the recent literature from 2010 to 2016, concentrating on articles related to the pathophysiology of IFALD and to outcomes of novel nutritional and pharmacological therapies for neonatal cholestasis in the post-surgical neonate. RESULTS: The pathophysiology of IFALD relates to an increase sensitivity of the neonatal liver to cholestasis in the non-fed state; prolonged cholestasis almost inevitably results in liver damage which will progress from fibrosis to cirrhosis...
April 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/27440109/effects-of-soy-containing-diet-and-isoflavones-on-cytochrome-p450-enzyme-expression-and-activity
#8
Martin J J Ronis
Cytochromes P450 (CYPs) play an important role in metabolism and clearance of most clinically utilized drugs and other xenobiotics. They are important in metabolism of endogenous compounds including fatty acids, sterols, steroids and lipid-soluble vitamins. Dietary factors such as phytochemicals are capable of affecting CYP expression and activity, which may be important in diet-drug interactions and in the development of fatty liver disease, cardiovascular disease and cancer. One important diet-CYP interaction is with diets containing plant proteins, particularly soy protein...
August 2016: Drug Metabolism Reviews
https://www.readbyqxmd.com/read/27411428/dress-syndrome-presents-as-leukoencephalopathy
#9
Seyed Hasan Tonekaboni, Narjes Jafari, Zahra Chavoshzadeh, Bibi Shahin Shamsian, Nima Rezaei
DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a potentially life-threatening syndrome, which reflects a serious hypersensitivity reaction to drugs, presenting by generalized skin rash, fever, eosinophilia, atypical lymphocytosis, and internal organ involvement. Herein a 21-month old male infant with DRESS and Encephalopathy syndrome is presented who complicated after phenobarbital usage that persisted due to phenytoin cream usage. The case received phenobarbital after a seizure disorder presented as "status epilepticus"...
September 2015: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27387539/the-immature-rat-as-a-potential-model-for-chemical-risks-to-children-ontogeny-of-selected-hepatic-p450s
#10
Brooks T McPhail, Catherine A White, Brian S Cummings, Srinivasa Muralidhara, Jewell T Wilson, James V Bruckner
Concern about potential susceptibilities of infants and children to chemicals has led to the consideration of immature rodents as potential test surrogates. Maturation of some hepatic microsomal cytochrome P450s (CYPs), that participate in metabolic activation of organic solvents and polycyclic aromatic hydrocarbons (PAHs), may differ significantly between humans and rodents. The present investigation was undertaken to delineate the ontogeny of selected hepatic CYPs in male and female Sprague-Dawley (S-D) rats, and to contrast them with developmental profiles in humans...
August 25, 2016: Chemico-biological Interactions
https://www.readbyqxmd.com/read/27257052/histamine-is-correlated-with-liver-fibrosis-in-biliary-atresia
#11
Kejun Zhou, Guoxiang Xie, Jie Wen, Jun Wang, Weihua Pan, Ying Zhou, Yongtao Xiao, Yang Wang, Wei Jia, Wei Cai
BACKGROUND AND AIMS: Biliary atresia (BA) is a severe neonatal cholestasis disease that is caused by obstruction of extra bile ducts. Liver fibrosis progresses dramatically in BA, and the underlying molecular mechanism is largely unknown. METHODS: Amino acids and biogenic amines were quantified by targeted metabolomic methods in livers of 52 infants with BA and 16 infants with neonatal hepatitis syndrome (NHS). Normal adjacent nontumor liver tissues from 5 hepatoblastoma infants were used as controls...
August 2016: Digestive and Liver Disease
https://www.readbyqxmd.com/read/26627605/hsp90-and-hepatobiliary-transformation-during-sea-lamprey-metamorphosis
#12
Yu-Wen Chung-Davidson, Chu-Yin Yeh, Ugo Bussy, Ke Li, Peter J Davidson, Kaben G Nanlohy, C Titus Brown, Steven Whyard, Weiming Li
BACKGROUND: Biliary atresia (BA) is a human infant disease with inflammatory fibrous obstructions in the bile ducts and is the most common cause for pediatric liver transplantation. In contrast, the sea lamprey undergoes developmental BA with transient cholestasis and fibrosis during metamorphosis, but emerges as a fecund adult. Therefore, sea lamprey liver metamorphosis may serve as an etiological model for human BA and provide pivotal information for hepatobiliary transformation and possible therapeutics...
December 1, 2015: BMC Developmental Biology
https://www.readbyqxmd.com/read/26615381/early-onset-hepatocellular-disease-in-an-infant-with-zellweger-syndrome
#13
Mehri Najafi Sani, Mitra Ahmadi, Pejman Roohani, Nima Rezaei
Zellweger syndrome (ZS) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. Herein, a 3-month-old female with ZS is presented who was referred because of increased liver enzymes (subclinical hepatitis), which was detected in work-up of her neck cyst, severe hypotonia, and abnormal facies. An increased concentration of very long chain fatty acid in lipid profile was detected...
October 2015: Acta Medica Iranica
https://www.readbyqxmd.com/read/26488552/inhibition-of-heme-oxygenase-activity-using-a-microparticle-formulation-of-zinc-protoporphyrin-in-an-acute-hemolytic-newborn-mouse-model
#14
Kazumichi Fujioka, Flora Kalish, Ronald J Wong, David K Stevenson
BACKGROUND: Increased bilirubin production due to hemolysis can lead to neonatal hyperbilirubinemia. Inhibition of heme oxygenase (HO), the rate-limiting enzyme in heme catabolism, by metalloporphyrins (Mps) may be an ideal preventive strategy for neonatal hemolytic disease. Zinc protoporphyrin (ZnPP) is a naturally occurring Mp, potent, not phototoxic, with minimal HO-1 upregulation, but is not orally absorbed. Recently, we designed a lipid-based ZnPP formulation (ZnPP-Lipid), which is orally absorbed by newborn mice...
February 2016: Pediatric Research
https://www.readbyqxmd.com/read/26409061/risk-factors-for-vertical-transmission-of-hepatitis-c-virus-a-single-center-experience-with-710-hcv-infected-mothers
#15
Amparo Garcia-Tejedor, Vicente Maiques-Montesinos, Vicente José Diago-Almela, Antonio Pereda-Perez, Vicente Alberola-Cuñat, José Luís López-Hontangas, Alfredo Perales-Puchalt, Alfredo Perales
OBJECTIVE: The aim of this study was to analyze the risk factors on the perinatal transmission of hepatitis C virus (HCV). STUDY DESIGN: A retrospective cohort study with 711 infants born to 710 HCV-infected mothers was conducted at the Hospital La Fe, in Valencia, Spain, from 1986 to 2011. As potential risk factors for transmission we analyzed: maternal age, mode of acquisition of HCV infection, HIV co-infection, antiretroviral treatment against HIV, CD4 cell count, HIV and HCV viral load, liver enzyme levels during pregnancy, smoking habit, gestational age, intrapartum invasive procedures, length of rupture of membranes, length of labor, mode of delivery, episiotomy, birth weight, newborn gender and type of feeding...
November 2015: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/26400395/dose-of-phenobarbital-and-age-of-treatment-at-early-life-are-two-key-factors-for-the-persistent-induction-of-cytochrome-p450-enzymes-in-adult-mouse-liver
#16
Yun-Chen Tien, Ke Liu, Chad Pope, Pengcheng Wang, Xiaochao Ma, Xiao-bo Zhong
Drug treatment of neonates and infants and its long-term consequences on drug responses have emerged in recent years as a major challenge for health care professionals. In the current study, we use phenobarbital as a model drug and mouse as an in vivo model to demonstrate that the dose of phenobarbital and age of treatment are two key factors for the persistent induction of gene expression and consequential increases of enzyme activities of Cyp2b, Cyp2c, and Cyp3a in adult livers. We show that phenobarbital treatment at early life of day 5 after birth with a low dose (<100 mg/kg) does not change expression and enzyme activities of Cyp2b, Cyp2c, and Cyp3a in adult mouse liver, whereas phenobarbital treatment with a high dose (>200 mg/kg) significantly increases expression and enzyme activities of these P450s in adult liver...
December 2015: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/26305066/the-epidemiology-of-liver-diseases-unique-to-pregnancy-in-a-us-community-a-population-based-study
#17
Alina M Allen, W Ray Kim, Joseph J Larson, Jordan K Rosedahl, Barbara P Yawn, Kimberly McKeon, J Eileen Hay
BACKGROUND & AIMS: Little is known in the United States about the epidemiology of liver diseases that develop only during (are unique to) pregnancy. We investigated the incidence of liver diseases unique to pregnancy in Olmsted County, Minnesota, and long-term maternal and fetal outcomes. METHODS: We identified 247 women with liver diseases unique to pregnancy from 1996 through 2010 using the Rochester Epidemiology Project database. The crude incidence rate was calculated by the number of liver disease cases divided by 35,101 pregnancies...
February 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/26105491/pp170-prenatal-vitamin-c-and-e-supplementation-is-associated-with-a-reduction-in-placental-abruption-and-preterm-birth-in-smokers
#18
R Gandley, A Abramovici
INTRODUCTION: Maternal tobacco use increases the incidence of numerous adverse pregnancy outcomes including miscarriage, small for gestational age infants, spontaneous preterm birth and placental abruption. OBJECTIVES: We evaluated the relationship between prenatal vitamin C/E supplementation and perinatal outcomes by maternal smoking status. METHODS: Secondary analysis of a multicenter trial of vitamin C/E starting at 9-16 weeks in low-risk nulliparous women with singletons...
July 2012: Pregnancy Hypertension
https://www.readbyqxmd.com/read/25856083/preterm-prelabor-rupture-of-membranes-and-outcome-of-very-low-birth-weight-infants-in-the-german-neonatal-network
#19
Kathrin Hanke, Annika Hartz, Maike Manz, Meike Bendiks, Friedhelm Heitmann, Thorsten Orlikowsky, Andreas Müller, Dirk Olbertz, Thomas Kühn, Jens Siegel, Axel von der Wense, Christian Wieg, Angela Kribs, Anja Stein, Julia Pagel, Egbert Herting, Wolfgang Göpel, Christoph Härtel
OBJECTIVE: It was the aim of our study to evaluate the independent effect of preterm prelabor rupture of membranes (PPROM) as a cause of preterm delivery on mortality during primary hospital stay and significant morbidities in very-low-birth-weight (VLBW) infants < 32 weeks of gestation. DESIGN: Observational, epidemiological study design. SETTING: Population-based cohort, German Neonatal Network (GNN). POPULATION: 6102 VLBW infants were enrolled in GNN from 2009-2012, n=4120 fulfilled criteria for primary analysis (< 32 gestational weeks, no pre-eclampsia, HELLP (highly elevated liver enzymes and low platelets syndrome) or placental abruption as cause of preterm birth)...
2015: PloS One
https://www.readbyqxmd.com/read/25806562/prophylactic-milrinone-for-the-prevention-of-low-cardiac-output-syndrome-and-mortality-in-children-undergoing-surgery-for-congenital-heart-disease
#20
REVIEW
Barbara E U Burkhardt, Gerta Rücker, Brigitte Stiller
BACKGROUND: Children with congenital heart disease often undergo heart surgery at a young age. They are at risk for postoperative low cardiac output syndrome (LCOS) or death. Milrinone may be used to provide inotropic and vasodilatory support during the immediate postoperative period. OBJECTIVES: This review examines the effectiveness of prophylactic postoperative use of milrinone to prevent LCOS or death in children having undergone surgery for congenital heart disease...
March 25, 2015: Cochrane Database of Systematic Reviews
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