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Gilberts Syndrome

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https://www.readbyqxmd.com/read/29747002/dual-therapy-strategy-for-modification-of-adiponectin-receptor-signaling-in-aging-associated-chronic-diseases
#1
REVIEW
Masaaki Waragai, Gilbert Ho, Yoshiki Takamatsu, Yuka Shimizu, Hiromu Sugino, Shuei Sugama, Takato Takenouchi, Eliezer Masliah, Makoto Hashimoto
Given the paradigm of anti-insulin resistance in therapies for metabolic syndrome, there has been considerable interest in adiponectin (APN), an adipocyte-derived sensitizer of insulin receptor signaling. In contrast to hypoadiponectinemia in metabolic syndrome, evidence suggests that Alzheimer's disease (AD) and other diseases, including chronic heart failure (CHF) and chronic kidney disease (CKD), are characterized by hyperadiponectinemia as well as the APN/obesity paradoxes, indicating that a decrease in APN might also be beneficial for these diseases...
May 7, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29744077/hyperbilirubinemia-following-lenalidomide-administration
#2
Veronica Azmy, Natalia Neparidze
Asymptomatic hyperbilirubinemia in a patient with no underlying liver disease or renal impairment while on lenalidomide therapy may be attributable to the unmasking of previously undiagnosed Gilbert's syndrome, as previously shown in the literature. The hyperbilirubinemia should resolve after discontinuation of the drug.
May 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29681225/the-united-kingdom-and-ireland-experience-of-the-haemodialysis-reliable-outflow-graft-for-vascular-access
#3
James P Hunter, Simon R Knight, N Inston, D Ridway, A Tavakoli, S Suttie, D Kingsmore, T Brown, S Sultan, J Gilbert
OBJECTIVES: To describe the UK and Ireland experience of the Haemodialysis Reliable Outflow graft in complex vascular access. DESIGN: Observational, multi-centre case series. METHODS: Data from any patient undergoing Haemodialysis Reliable Outflow graft were collected from eight UK and one Irish centre. Any Haemodialysis Reliable Outflow procedure between July 2013 and May 2016 was included. Demographics, primary and secondary patency rates, and complications were analysed...
April 1, 2018: Journal of Vascular Access
https://www.readbyqxmd.com/read/29652564/examining-the-relationship-between-nonalcoholic-fatty-liver-disease-and-the-metabolic-syndrome-in-nondiabetic-subjects
#4
Harry G Preuss, Gilbert R Kaats, Nate Mrvichin, Anand Swaroop, Debasis Bagchi, Dallas Clouatre, Jeffrey M Preuss
OBJECTIVE: Nonalcoholic fatty liver disease (NAFLD) is considered by some to be the hepatic manifestation of the metabolic syndrome (MS). However, others believe NAFLD is a distinct entity that actually initiates MS. Whichever is true, a definite linkage exists between both is generally accepted based upon the frequency of common occurrence and realization that insulin resistance (IR) is and realization that. The objective is to better understand the relationship between NAFLD and MS...
April 13, 2018: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/29618507/further-delineation-of-the-mecp2-duplication-syndrome-phenotype-in-59-french-male-patients-with-a-particular-focus-on-morphological-and-neurological-features
#5
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Mylène Béri-Dexheimer, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier-Daire, Marlene Rio, Jean-Paul Bonnefont, Bernard Echenne, Hubert Journel, Lydie Burglen, Sandrine Chantot-Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin-Robinet, Réseau AChro-Puce, Jean-Michel Pedespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent-Delorme, Bénédicte Duban-Bedu, Nadia Bahi-Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean-Luc Alessandri, Dominique Martin-Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne-Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert-Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent Des Portes, Salima El Chehadeh
The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication...
April 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29600900/bilirubin-acts-as-a-multi-potent-guardian-of-cardiovascular-integrity-more-than-just-a-radical-idea
#6
Andrew Cameron Bulmer, Bhavisha A Bakrania, Eugene Francois Du Toit, Ai-Ching Boon, Paul J Clark, Lawrie W Powell, Karl-Heinz Wagner, John P Headrick
Bilirubin, a potentially toxic catabolite of heme and indicator of hepato-biliary insufficiency, exhibits potent cardiac and vascular protective properties. Individuals with Gilbert's syndrome (GS) may experience hyperbilirubinemia in response to stressors including reduced hepatic bilirubin excretion/increased red blood cell breakdown, with individuals usually informed by their clinician that their condition is of little consequence. However, GS appears to protect from all-cause mortality, with progressively elevated total bilirubin associated with protection from ischemic heart and chronic obstructive pulmonary diseases...
March 30, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29558524/survival-of-viral-pathogens-in-animal-feed-ingredients-under-transboundary-shipping-models
#7
Scott A Dee, Fernando V Bauermann, Megan C Niederwerder, Aaron Singrey, Travis Clement, Marcelo de Lima, Craig Long, Gilbert Patterson, Maureen A Sheahan, Ana M M Stoian, Vlad Petrovan, Cassandra K Jones, Jon De Jong, Ju Ji, Gordon D Spronk, Luke Minion, Jane Christopher-Hennings, Jeff J Zimmerman, Raymond R R Rowland, Eric Nelson, Paul Sundberg, Diego G Diel
The goal of this study was to evaluate survival of important viral pathogens of livestock in animal feed ingredients imported daily into the United States under simulated transboundary conditions. Eleven viruses were selected based on global significance and impact to the livestock industry, including Foot and Mouth Disease Virus (FMDV), Classical Swine Fever Virus (CSFV), African Swine Fever Virus (ASFV), Influenza A Virus of Swine (IAV-S), Pseudorabies virus (PRV), Nipah Virus (NiV), Porcine Reproductive and Respiratory Syndrome Virus (PRRSV), Swine Vesicular Disease Virus (SVDV), Vesicular Stomatitis Virus (VSV), Porcine Circovirus Type 2 (PCV2) and Vesicular Exanthema of Swine Virus (VESV)...
2018: PloS One
https://www.readbyqxmd.com/read/29533157/longitudinal-examination-of-links-between-risk-factors-for-the-metabolic-syndrome-and-both-age-and-fasting-glucose-levels-in-nondiabetic-subjects
#8
Harry G Preuss, Gilbert R Kaats, Nate Mrvichin, Debasis Bagchi, Anand Swaroop
BACKGROUND: Previous evaluations in nondiabetic subjects revealed statistically significant correlations between fasting blood glucose (FBG) levels used as an estimate of insulin resistance and many components constituting the metabolic syndrome. Similar significant correlations were not found employing chronological age as the independent variable in the same nondiabetic individuals. OBJECTIVE: The major purpose here was to replicate as well as corroborate the previous cross-sectional observations, emphasizing results obtained from data collected longitudinally...
May 2018: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/29528771/lethal-fat-embolism-complicating-sotos-syndrome
#9
John D Gilbert, Roger W Byard
Sotos syndrome is a rare congenital syndrome caused by deletions or mutations in the NSD1 gene (chromosome 5q35) which results in overgrowth. A wide range of manifestations may result in unexpected and/or early death, including congenital cardiac malformations and tumours, epilepsy, intra-tumoural haemorrhage or embolism and bleeding diatheses. A case of lethal pulmonary fat embolism complicating revision of a left total hip replacement following spontaneous fracture is reported in a 39-year-old man with Sotos syndrome...
April 2018: Medicine, Science, and the Law
https://www.readbyqxmd.com/read/29466901/modified-isth-pregnancy-specific-dic-score-in-parturients-with-liver-rupture-population-based-case-series
#10
Ranit Hizkiyahu, Anat Rabinovich, Jecko Thachil, Eyal Sheiner, Gad Shaked, Gilbert Sebbag, Eli Maymon, Offer Erez
OBJECTIVES: Liver rupture and hematoma are rare life-threatening complications of pregnancy. The aims of the current study are to: (1) characterize in a population-based study all cases of liver hematoma and/or rupture; and (2) validate the utility of the International Society on Thrombosis and Haemostasis (ISTH) modified pregnancy specific disseminated intravascular coagulation (DIC) score in those cases. STUDY DESIGN: A retrospective cohort study including all patients with liver subcapsular hematoma or rupture between the years 1996 and 2012 was conducted...
February 21, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29427212/recontacting-patients-with-updated-genetic-testing-recommendations-for-medullary-thyroid-carcinoma-and-pheochromocytoma-or-paraganglioma
#11
Minerva A Romero Arenas, Thereasa A Rich, Samuel M Hyde, Naifa L Busaidy, Gilbert J Cote, Mimi I Hu, Robert F Gagel, Paul W Gidley, Camilo Jimenez, Michael E Kupferman, Susan K Peterson, Steven I Sherman, Anita Ying, Roland L Bassett, Steven G Waguespack, Nancy D Perrier, Elizabeth G Grubbs
BACKGROUND: No guidelines exist regarding physicians' duty to inform former patients about novel genetic tests that may be medically beneficial. Research on the feasibility and efficacy of disseminating information and patient opinions on this topic is limited. METHODS: Adult patients treated at our institution from 1950 to 2010 for medullary thyroid cancer, pheochromocytoma, or paraganglioma were included if their history suggested being at-risk for a hereditary syndrome but genetic risk assessment would be incomplete by current standards...
May 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29390925/diagnostic-criteria-and-contributors-to-gilbert-s-syndrome
#12
Karl-Heinz Wagner, Ryan G Shiels, Claudia Anna Lang, Nazlisadat Seyed Khoei, Andrew C Bulmer
Hyperbilirubinemia is a well-known condition in the clinical setting; however, the causes of elevated serum bilirubin are diverse, as are the clinical ramifications of this condition. For example, diagnoses of individuals vary depending on whether they exhibit an unconjugated or conjugated hyperbilirubinemia. Diagnoses can include conditions of disordered bilirubin metabolism (Gilbert's, Crigler-Najjar, Rotor, or Dubin-Johnson syndromes) or an acquired disease, including alcoholic/non-alcoholic fatty liver disease, hepatotropic hepatitis, cirrhosis, or hepato-biliary malignancy...
March 2018: Critical Reviews in Clinical Laboratory Sciences
https://www.readbyqxmd.com/read/29386646/-gilbert-s-like-syndrome-as-part-of-a-spectrum-of-persistent-unconjugated-hyperbilirubinemia-in-post-chronic-hepatitis-patients
#13
Jin Ye, Lianlian Cui, Yingqiao Zhou, Ying Huang, Omar Banafa, Xiaohua Hou, Zhen Ding, Rong Lin
Gilbert's syndrome (GS) patients present with remittent unconjugated hyperbilirubinemia. In this study, we investigated the correlation between polymorphisms in the gene encoding UDP-glucuronosyltransferase, UGT1A1, and the development of unconjugated hyperbilirubinemia in clinical GS and post-hepatitis hyperbilirubinemia. Blood samples were collected from 285 patients, including 85 patients who were clinically diagnosed with GS, 70 patients who had indirect hyperbilirubinemia during the recovery period of chronic liver diseases, 109 patients with normal hepatic function and 21 chronic active hepatitis patients...
January 31, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29366381/an-atypical-rett-syndrome-phenotype-due-to-a-novel-missense-mutation-in-cacna1a
#14
Madison V Epperson, Michael E Haws, Shannon M Standridge, Donald L Gilbert
BACKGROUND: Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome...
March 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29332042/protective-effects-of-indian-spice-curcumin-against-amyloid-%C3%AE-in-alzheimer-s-disease
#15
P Hemachandra Reddy, Maria Manczak, Xiangling Yin, Mary Catherine Grady, Andrew Mitchell, Sahil Tonk, Chandra Sekhar Kuruva, Jasvinder Singh Bhatti, Ramesh Kandimalla, Murali Vijayan, Subodh Kumar, Rui Wang, Jangampalli Adi Pradeepkiran, Gilbert Ogunmokun, Kavya Thamarai, Kandi Quesada, Annette Boles, Arubala P Reddy
The purpose of our article is to assess the current understanding of Indian spice, curcumin, against amyloid-β (Aβ)-induced toxicity in Alzheimer's disease (AD) pathogenesis. Natural products, such as ginger, curcumin, and gingko biloba have been used as diets and dietary supplements to treat human diseases, including cancer, cardiovascular, respiratory, infectious, diabetes, obesity, metabolic syndromes, and neurological disorders. Products derived from plants are known to have protective effects, including anti-inflammatory, antioxidant, anti-arthritis, pro-healing, and boosting memory cognitive functions...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29317263/keratinocyte-specific-ablation-of-ripk4-allows-epidermal-cornification-but-impairs-skin-barrier-formation
#16
Corinne Urwyler-Rösselet, Giel Tanghe, Kirsten Leurs, Barbara Gilbert, Riet De Rycke, Michiel De Bruyne, Saskia Lippens, Sonia Bartunkova, Philippe De Groote, Carien Niessen, Marek Haftek, Peter Vandenabeele, Wim Declercq
In humans, receptor-interacting protein kinase 4 (RIPK4) mutations can lead to the autosomal recessive Bartsocas-Papas and popliteal pterygium syndromes, which are characterized by severe skin defects, pterygia, as well as clefting. We show here that the epithelial fusions observed in RIPK4 full knockout (KO) mice are E-cadherin dependent, as keratinocyte-specific deletion of E-cadherin in RIPK4 full KO mice rescued the tail-to-body fusion and fusion of oral epithelia. To elucidate RIPK4 function in epidermal differentiation and development, we generated epidermis-specific RIPK4 KO mice (RIPK4EKO )...
January 6, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29279144/mild-hyperbilirubinaemia-as-an-endogenous-mitigator-of-overweight-and-obesity-implications-for-improved-metabolic-health
#17
Nazlisadat Seyed Khoei, Annemarie Grindel, Marlies Wallner, Christine Mölzer, Daniel Doberer, Rodrig Marculescu, Andrew Bulmer, Karl-Heinz Wagner
BACKGROUND AND AIMS: Mild endogenous elevation of unconjugated bilirubin (UCB) as seen in Gilbert's syndrome (GS), might mitigate cardiovascular disease (CVD) risk factors including overweight/obesity. This study aimed to determine whether hyperbilirubinaemia is linked to improved anthropometric data and lipid profile. METHODS: Our study considered GS and age-/gender-matched healthy controls (n = 248). Additionally, obese female type 2 diabetic patients (DM2) (n = 26) were included as a "disease control group"...
February 2018: Atherosclerosis
https://www.readbyqxmd.com/read/29207733/the-association-between-prolonged-jaundice-and-tata-box-dinucleotide-repeats-in-gilbert-s-syndrome
#18
Yadollah Zahed Pasha, Mousa Ahmadpor Kacho, Haleh Akhavan Niaki, Mehdi Tarighati, Ehsan Alaee
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. Aim: To determine the association between prolonged jaundice and TATA box dinucleotide repeats in Gilbert's Syndrome (GS). Materials and Methods: In this case-control study, the case group consisted of 51 neonates with jaundice, aged more than two weeks with indirect bilirubin level higher than 10 mg/dl...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29200157/an-infant-with-unusually-high-unconjugated-hyperbilirubinemia-due-to-coexistence-of-hereditary-spherocytosis-and-gilbert-syndrome
#19
Ivona Butorac Ahel, Kristina Baraba Dekanic, Goran Palcevski, Jelena Roganovic
Hereditary spherocytosis is the most frequent congenital hemolytic anemia and is characterized with variable degree of anemia, jaundice, and splenomegaly. In the case of severe hyperbilirubinemia out of proportion with hemolysis, other causes of hyperbilirubinemia must be considered. Gilbert syndrome (GS) is an autosomal dominant disorder characterized with intermittent hyperbilirubinemia without any other sign and symptom of liver disease as a result of reduced activity of uridine diphosphate-glucuronyl transferase 1A1...
March 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29200025/granulomatosis-with-polyangiitis-in-a-young-adult-with-down-syndrome-therapeutic-challenges-and-clues-to-immunopathogenesis
#20
Kofi A Mensah, Victoria Malek Pascha, Gilbert Moeckel, Abhijeet Danve
No abstract text is available yet for this article.
December 1, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
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