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https://www.readbyqxmd.com/read/28100328/-repeated-yellowing-of-the-skin-and-sclera-for-2-years
#1
Xiao-Ye Yuan, Xiang-Ling He, Hui Zou, Run-Ying Zou
A two-year-old girl was admitted due to repeated yellowing of the skin and sclera for 2 years and had no other specific symptoms or signs. The use of phenobarbital could relieve the symptoms of jaundice. Multiple examinations showed increased indirect bilirubin levels, and the results of aminotransferases and liver imaging were normal. There was no evidence of hemolysis. The analysis of UGT1A1 gene in her family found that this child had double homozygous mutation of c.211G>A(G71R) and c.1456T>G(Y486D), which had been reported as the pathogenic mutation for Gilbert syndrome...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28096081/mice-with-hyperbilirubinemia-due-to-gilbert-s-syndrome-polymorphism-are-resistant-to-hepatic-steatosis-by-decreased-serine-73-phosphorylation-of-ppar%C3%AE
#2
Terry D Hinds, Peter A Hosick, Michael W Hankins, Andrea Nestor-Kalinoski, David E Stec
Gilbert's syndrome is derived from a polymorphism (TA repeat) in the hepatic UGT1A1 gene which results in decreased conjugation and increased levels of unconjugated bilirubin. Recently, we have shown that bilirubin binds directly to the fat burning nuclear peroxisome proliferator-activated receptor α (PPARα). Additionally, we have shown that serine 73 phosphorylation (Ser(P)(73)) of PPARα decreases activity by reducing its protein levels and transcriptional activity. The aim of this study was to determine if humanized mice with the Gilbert's polymorphism (HuUGT*28) have increased PPARα activation and reduced hepatic fat accumulation...
January 17, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28093842/gilbert-syndrome-in-patients-with-type-1-diabetes-prevalence-glycemic-control-and-microalbuminuria
#3
Sigal Singer, Nurit Pilpel, Orit Pinhas-Hamiel
BACKGROUND: Gilbert syndrome (GS) is a common hereditary condition, characterized by intermittent unconjugated hyperbilirubinemia. In adults with type 2 diabetes and GS, a markedly lower prevalence of nephropathy was documented, suggesting a beneficial effect of hyperbilirubinemia. We investigated the prevalence of GS among individuals with type 1 diabetes mellitus (T1DM), and the prevalence of microalbuminuria. METHODS: The prevalence of GS was assessed in 401 (204 female) patients with T1DM, median age 21...
January 17, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28090565/thbs2-is-a-candidate-modifier-of-liver-disease-severity-in-alagille-syndrome
#4
Ellen A Tsai, Melissa A Gilbert, Christopher M Grochowski, Lara A Underkoffler, He Meng, Xiaojie Zhang, Michael M Wang, Hailu Shitaye, Kurt D Hankenson, David Piccoli, Henry Lin, Binita M Kamath, Marcella Devoto, Nancy B Spinner, Kathleen M Loomes
BACKGROUND & AIMS: Alagille syndrome is an autosomal-dominant, multisystem disorder caused primarily by mutations in JAG1, resulting in bile duct paucity, cholestasis, cardiac disease, and other features. Liver disease severity in Alagille syndrome is highly variable, however, factors influencing the hepatic phenotype are unknown. We hypothesized that genetic modifiers may contribute to the variable expressivity of this disorder. METHODS: We performed a genome-wide association study in a cohort of Caucasian subjects with known pathogenic JAG1 mutations, comparing patients with mild vs severe liver disease, followed by functional characterization of a candidate locus...
September 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28074283/diabetes-and-nephrotic-syndrome-questions
#5
Rodney D Gilbert, Edward Hind, Bhumita Vadgama
No abstract text is available yet for this article.
January 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28050400/the-association-between-prolonged-jaundice-and-ugt1a1-gene-polymorphism-g71r-in-gilbert-s-syndrome
#6
Ehsan Alaee, Behnaz Bazrafshan, Ali Reza Azaminejad, Mahnaz Fouladinejad, Majid Shahbazi
INTRODUCTION: Jaundice is a common condition during the neonatal period. Prolonged jaundice occurs in a large number of breastfed infants. Considering the impact of genetic factors on the incidence of jaundice present study was conducted. AIM: The aim of this study was to determine the association between prolonged jaundice and G71R polymorphism in Gilbert's syndrome. MATERIALS AND METHODS: This case-control study was conducted at Taleghani Children's Hospital of Gorgan, Iran...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28028852/structural-investigation-on-wlarg-from-campylobacter-jejuni-a-sugar-aminotransferase
#7
Garrett T Dow, Michel Gilbert, James B Thoden, Hazel M Holden
Campylobacter jejuni is a Gram-negative bacterium that represents a leading cause of human gastroenteritis worldwide. Of particular concern is the link between C. jejuni infections and the subsequent development of Guillain-Barré syndrome, an acquired autoimmune disorder leading to paralysis. All Gram-negative bacteria contain complex glycoconjugates anchored to their outer membranes, but in most strains of C. jejuni, this lipoglycan lacks the O-antigen repeating units. Recent mass spectrometry analyses indicate that the C...
December 28, 2016: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/28012006/diabetes-and-nephrotic-syndrome-answers
#8
Rodney D Gilbert, Edward Hind, Bhumita Vadgama
No abstract text is available yet for this article.
December 23, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28004508/the-molecular-basis-of-jaundice-an-old-symptom-revisited
#9
Silvia Gazzin, Flora Masutti, Libor Vitek, Claudio Tiribelli
Increased serum bilirubin level is a widely used diagnostic marker for hepatic illnesses. Nevertheless, mild elevation of unconjugated serum bilirubin (such as in Gilbert syndrome) has been recently demonstrated to correlate with low risk of chronic pro-inflammatory and/or oxidative stress-mediated diseases. In accord, a low serum bilirubin level has emerged as an important predisposing factor or a biomarker of these pathologic conditions including cardiovascular, tumor, and possibly neurodegenerative diseases...
December 22, 2016: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/27968820/mortality-outcomes-after-busulfan-containing-conditioning-treatment-and-haemopoietic-cell-transplantation-in-patients-with-gilbert-s-syndrome-a-retrospective-cohort-study
#10
George B McDonald, Ashley T Evans, Jeannine S McCune, Gary Schoch, J Donald Ostrow, Ted A Gooley
BACKGROUND: Gilbert's syndrome is a common inherited disorder of bilirubin metabolism, characterised by mild, unconjugated hyperbilirubinaemia. However, the effect of Gilbert's syndrome on the disposition of some drugs can lead to unexpected toxicity. We tested the hypothesis that patients undergoing myeloablative conditioning and haemopoietic cell transplantation would have different mortality outcomes depending on whether or not they had laboratory evidence of Gilbert's syndrome. METHODS: In this retrospective cohort study, we used clinical and laboratory data of patients who had haemopoietic cell transplantation from Jan 1, 1991, to Dec 31, 2011...
November 2016: Lancet Haematology
https://www.readbyqxmd.com/read/27968817/gilbert-s-syndrome-in-haemopoietic-cell-transplantation
#11
Mukta Arora
No abstract text is available yet for this article.
November 2016: Lancet Haematology
https://www.readbyqxmd.com/read/27965142/duane-syndrome-with-prominent-oculo-auricular-phenomenon
#12
Aubrey L Gilbert, David G Hunter
Duane syndrome is a congenital cranial dysinnervation disorder involving absent or anomalous innervation of the lateral and medial rectus muscles that is sometimes associated with other manifestations of dysinnervation. We describe a patient with right esotropic Duane syndrome with a long-standing retroauricular tugging sensation in right gaze who was noted to have prominent ipsilateral oculo-auricular phenomenon, representing either abnormal enhancement of existing innervation or an uncommon dysinnervation...
December 10, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27907151/changes-in-galanin-systems-in-a-rat-model-of-post-traumatic-stress-disorder-ptsd
#13
Karen Barnabas, Lin Zhang, Huiying Wang, Gilbert Kirouac, Maria Vrontakis
Post-traumatic stress disorder (PTSD) is a chronic syndrome triggered by exposure to trauma and a failure to recover from a normal negative emotional reaction to traumatic stress. The neurobiology of PTSD and the participation of neuropeptides in the neural systems and circuits that control fear and anxiety are not fully understood. The long-term dysregulation of neuropeptide systems contributes to the development of anxiety disorders, including PTSD. The neuropeptide galanin (Gal) and its receptors participate in anxiety-like and depression-related behaviors via the modulation of neuroendocrine and monoaminergic systems...
2016: PloS One
https://www.readbyqxmd.com/read/27901392/assessment-of-frailty-in-aged-dogs
#14
Julie Hua, Sara Hoummady, Claude Muller, Jean-Louis Pouchelon, Marc Blondot, Caroline Gilbert, Loic Desquilbet
OBJECTIVE To define a frailty-related phenotype-a clinical syndrome associated with the aging process in humans-in aged dogs and to investigate its association with time to death. ANIMALS 116 aged guide dogs. PROCEDURES Dogs underwent a clinical geriatric assessment (CGA) and were followed to either time of death or the study cutoff date. A 5-component clinical definition of a frailty phenotype was derived from clinical items included in a geriatric health evaluation scoresheet completed by veterinarians during the CGA...
December 2016: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/27869719/targeted-molecular-imaging-in-adrenal-disease-an-emerging-role-for-metomidate-pet-ct
#15
REVIEW
Iosif A Mendichovszky, Andrew S Powlson, Roido Manavaki, Franklin I Aigbirhio, Heok Cheow, John R Buscombe, Mark Gurnell, Fiona J Gilbert
Adrenal lesions present a significant diagnostic burden for both radiologists and endocrinologists, especially with the increasing number of adrenal 'incidentalomas' detected on modern computed tomography (CT) or magnetic resonance imaging (MRI). A key objective is the reliable distinction of benign disease from either primary adrenal malignancy (e.g., adrenocortical carcinoma or malignant forms of pheochromocytoma/paraganglioma (PPGL)) or metastases (e.g., bronchial, renal). Benign lesions may still be associated with adverse sequelae through autonomous hormone hypersecretion (e...
November 18, 2016: Diagnostics
https://www.readbyqxmd.com/read/27866642/genetic-susceptibility-to-gilbert-s-syndrome-in-a-valencian-population-efficacy-of-the-fasting-test
#16
A K Torres, N Escartín, C Monzó, C Guzmán, I Ferrer, C González-Muñoz, P Peña, V Monzó, G Marcaida, R Rodríguez-López
OBJECTIVE: To describe the populational distribution of the UGT1A1*28 variant (genetic variant code rs8175347) located in the promotor of the UGT gene and correlate its genotypes with the results of the fasting test, as well as its relationship with the biochemical disorder of Gilbert's syndrome (GS) in a Valencian population. PATIENTS AND METHODS: We studied the prevalence of the genotypes (TA)6/6 (TA)6/7 and (TA)7/7 of the deleterious variant rs8175347 in 144 patients with hyperbilirubinemia, 38 of whom had previously undergone the fasting test to diagnose GS, and in 150 control patients...
November 17, 2016: Revista Clínica Española
https://www.readbyqxmd.com/read/27851506/1871-serotonin-syndrome-in-a-patient-receiving-methylene-blue-for-ifosfamide-encephalopathy-prophylaxis
#17
Brian Gilbert, Marcos Viera
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27846841/integrative-transcriptome-network-analysis-of-ipsc-derived-neurons-from-schizophrenia-and-schizoaffective-disorder-patients-with-22q11-2-deletion
#18
Mingyan Lin, Erika Pedrosa, Anastasia Hrabovsky, Jian Chen, Benjamin R Puliafito, Stephanie R Gilbert, Deyou Zheng, Herbert M Lachman
BACKGROUND: Individuals with 22q11.2 Deletion Syndrome (22q11.2 DS) are a specific high-risk group for developing schizophrenia (SZ), schizoaffective disorder (SAD) and autism spectrum disorders (ASD). Several genes in the deleted region have been implicated in the development of SZ, e.g., PRODH and DGCR8. However, the mechanistic connection between these genes and the neuropsychiatric phenotype remains unclear. To elucidate the molecular consequences of 22q11.2 deletion in early neural development, we carried out RNA-seq analysis to investigate gene expression in early differentiating human neurons derived from induced pluripotent stem cells (iPSCs) of 22q11...
November 15, 2016: BMC Systems Biology
https://www.readbyqxmd.com/read/27819792/-molecular-identification-of-hemoglobin-d-punjab-in-cases-detected-in-two-families
#19
Patricia Bouchán-Valencia, Georgina Coeto-Barona, Fany Rosenfeld-Mann, Rocío Trueba-Gómez, Héctor Baptista-González, Mariano Rivera-Echegoyén, Gerardo Rodríguez-Terán, Octavio Martínez-Villegas
BACKGROUND: Hemoglobin D Punjab is the world most common variant hemoglobin D; in Mexico there are reports of isolated cases. Our goal is to present the clinical and molecular study in two families with HbD Punjab. The objective was to submit molecular diagnosis of two families with Hb D Punjab and clinical features. CLINICAL CASE: Family 1: neonate with maternal history of HbS carrier. Father and sister with natural variants for the evaluated mutations, mother, brother and index case were heterozygous for HbD Punjab...
November 2016: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/27811305/ammecr1-a-single-point-mutation-causes-developmental-delay-midface-hypoplasia-and-elliptocytosis
#20
Gaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, Ita O'Kelly, Katherine Lachlan, Rodney D Gilbert, Sarah Ennis
BACKGROUND: Deletions in the Xq22.3-Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME). The extrarenal biological and clinical significance of neighbouring genes to the Alport locus has been largely speculative. We sought to discover a genetic cause for two half-brothers presenting with nephrocalcinosis, early speech and language delay and midface hypoplasia with submucous cleft palate and bifid uvula...
November 3, 2016: Journal of Medical Genetics
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