keyword
MENU ▼
Read by QxMD icon Read
search

gilbert syndrome

keyword
https://www.readbyqxmd.com/read/28338110/frequency-of-the-ugt1a1-28-polymorphism-in-a-romanian-cohort-of-gilbert-syndrome-individuals
#1
Viorica E Radoi, Radu I Ursu, Elena Poenaru, Cosmin Arsene, Camil L Bohiltea, Roxana Bohiltea
BACKGROUND AND AIMS: Gilbert syndrome (GS) is characterized by unconjugated hyperbilirubinemia without liver disease or overt hemolysis and it is found in 3-10% of the general population. Inherited hyperbilirubinaemia is attributable to a reduced UGT1A1 activity. The UGT1A1 promoter (TA) repeats variants are documented of being involved in abnormally elevated bilirubin levels. The aim of the present study is to analyze the impact of UGT1A1 promoter variants on bilirubin levels in Romanian patients clinically supected with GS...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28321066/gilbert-syndrome-with-concomitant-hereditary-spherocytosis-presenting-with-moderate-unconjugated-hyperbilirubinemia
#2
Mitsuhiko Aiso, Minami Yagi, Atsushi Tanaka, Kotaro Miura, Ryo Miura, Toshihiko Arizumi, Yoriyuki Takamori, Sayuri Nakahara, Yoshihiro Maruo, Hajime Takikawa
We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compound heterozygote UGT1A1*6. In addition, since the laboratory findings and imaging studies revealed lysemia as well as gallstone and splenomegaly, a diagnosis of hereditary spherocytosis was made as a comorbidity...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28300459/mildly-elevated-unconjugated-bilirubin-is-associated-with-reduced-platelet-activation-related-thrombogenesis-and-inflammation-in-gilbert-s-syndrome
#3
Avinash R Kundur, Abishek B Santhakumar, Andrew C Bulmer, Indu Singh
Gilbert's syndrome (GS) is associated with a mild unconjugated hyperbilirubinemia, increased circulating antioxidant capacity, and reduced cardiovascular disease (CVD) risk. The current study investigated whether mildly elevated circulating unconjugated bilirubin (UCB) is negatively associated with multiple thrombotic risk factors including platelet activity, hemostatic function, and inflammation in individuals with GS. Blood samples were collected from matched GS and control subjects (14 per group). Activation-dependent platelet surface marker expression of PAC-1 (binds to GPIIb/IIIa surface receptors on activated platelets) and CD62P (marker for P-selectin released from activated degranulated platelets) was assessed in adenosine diphosphate (ADP)-stimulated platelets using flow cytometry...
March 16, 2017: Platelets
https://www.readbyqxmd.com/read/28296739/ugt1a1-28-relationship-with-abnormal-total-bilirubin-levels-in-chronic-hepatitis-c-patients-outcomes-from-a-case-control-study
#4
Marcelo Moreira Tavares de Souza, Victor Van Vaisberg, Rodrigo Martins Abreu, Aline Siqueira Ferreira, Camila daSilvaFerreira, Paulo Dominguez Nasser, Helena Scavone Paschoale, Flair José Carrilho, Suzane Kioko Ono
Gilbert syndrome (GS) is a frequent benign clinical condition, marked by intermittent unconjugated hyperbilirubinemia, mostly due to the polymorphism uridine diphosphate-glucuronosyltransferase 1A1*28 (UGT1A1*28). Hyperbilirubinemia has been reported in a GS patient undergoing hepatitis C treatment, and other UGT isoforms polymorphisms have been linked to worse outcomes in viral hepatitis. Yet, little is known to GS contributions' to the liver disease scenario. Our aim was to assess UGT1A1 genotypes' frequency in chronic hepatitis C (CHC) patients and correlate with total bilirubin (TB)...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28296151/bilirubin-protects-the-aging-heart
#5
EDITORIAL
Samuel O Adeosun, David E Stec
In this issue of Acta Physiologica, Bakrania, et al., examined the effects of hyperbilirubinemia on the aging male heart under basal conditions and after ischemic injury (1) . Heart disease is a significant problem for the aging population in general and males in particular. Ischemic heart disease is a leading cause of global mortality for males and is responsible for one out of four deaths in males in the United States. Therefore, developing novel strategies to combat the development and progression of heart disease has the potential to save millions of lives a year...
March 10, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28293790/deconstructing-the-genitourinary-syndrome-of-menopause
#6
Pedro Vieira-Baptista, Claudia Marchitelli, Hope K Haefner, Gilbert Donders, Faustino Pérez-López
The concept of genitourinary syndrome of menopause (GSM) was recently introduced and has been gaining widespread use. While some justifications for its introduction are straightforward, others may be questionable. Numerous unspecific symptoms and signs were included in the definition of the syndrome, but the minimum number required for diagnosis was not established. While the GSM definition is designed to facilitate identifying vulvovaginal and urinary estrogen-deprivation-associated symptoms and signs, several concerns have evolved: (1) the syndrome may result in the underdiagnosis of vulvar and urinary pathology; and (2) serious conditions (e...
March 14, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28289185/fifteen-years-of-research-on-oral-facial-digital-syndromes-from-1-to-16-causal-genes
#7
REVIEW
Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H Giles, Colin A Johnson, Martijn A Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J Pazour, Vicente Herranz-Pérez, Jaclyn S Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R Leroux, John B Wallingford, Oliver E Blacque, Maxence V Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet
Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS...
March 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28280378/ugt1a1-polymorphisms-in-cancer-impact-on-irinotecan-treatment
#8
REVIEW
Masashi Takano, Toru Sugiyama
Mutations in the UGT1A1 gene have been implicated in Gilbert syndrome, which shows mild hyperbilirubinemia, and a more aggressive childhood subtype, Crigler-Najjar syndrome. To date, more than 100 variants have been found in the UGT1A1 gene. Among them, UGT1A1*28 and UGT1A1*6 have been reported to be associated with severe toxicities in patients treated with irinotecan-based chemotherapy by increasing the dose of SN-38 (7-ethyl-10-hydroxycamptothecin), an active form of irinotecan. Many association studies and meta-analyses have demonstrated the contribution of UGT1A1*28 and UGT1A1*6 polymorphisms to the toxicities caused by irinotecan-based therapy...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28279382/trials-of-imaging-use-in-the-emergency-department-for-acute-chest-pain
#9
REVIEW
Gilbert L Raff, Udo Hoffmann, James E Udelson
Over 8 million patients seek emergency department care for acute chest pain annually in the United States alone, and <5% have an acute coronary syndrome. In the absence of overt electrocardiographic or biomarker evidence, expensive and time-consuming diagnostic strategies are frequently required. Beginning in 2000, radionuclide myocardial perfusion, stress echocardiography, cardiac magnetic resonance imaging, and coronary computed tomographic angiography have become increasingly common in evaluating these patients...
March 2017: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28259802/a-pharmacokinetic-study-of-gc-1-delivery-using-a-nanochannel-membrane-device
#10
Carly S Filgueira, Andrea Ballerini, Eugenia Nicolov, Corrine Ying Xuan Chua, Priya Jain, Zachary W Smith, April L Gilbert, Francesco Scaglione, Alessandro Grattoni
This study demonstrated a nanochannel membrane device (NMD) for controlled and sustained release of GC-1 in rats, in the context of the treatment of metabolic syndrome. Release profiles were established in vitro both with and without 5% labrasol for over 2 months. In vivo pharmacokinetic evaluation showed effective GC-1 plasma concentrations, which resulted in significant reductions in body weight after just one week of treatment when compared to the NMD releasing vehicle only (PBS). We also provided evidence that rats treated with NMD-GC-1 present sub-active thyroids and clear differences in the morphology of the epithelium and follicles as compared to the controls, while the heart showed changes in weight...
March 1, 2017: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/28217413/deformation-response-of-the-iliotibial-band-tensor-fascia-lata-complex-to-clinical-grade-longitudinal-tension-loading-in-vitro
#11
Mark Wilhelm, Omer Matthijs, Kevin Browne, Gesine Seeber, Anja Matthijs, Phillip S Sizer, Jean-Michel Brismée, C Roger James, Kerry K Gilbert
BACKGROUND: Iliotibial Band (ITB) syndrome is a troublesome condition with prevalence as high as 12% in runners. Stretching has been utilized as a conservative treatment. However, there is limited evidence supporting ITB elongation in response to a stretching force. PURPOSE/HYPOTHESES: The purpose of this study was to describe the iliotibial band tensor fascia lata complex (ITBTFLC) tissue elongation response to a simulated clinical stretch in-vitro. The authors hypothesized that the ITBTFLC would undergo statistically significant elongation when exposed to a clinical-grade stretching regimen, with the majority of the elongation occurring within the proximal ITBTFLC region...
February 2017: International Journal of Sports Physical Therapy
https://www.readbyqxmd.com/read/28217062/anesthetic-management-of-a-case-of-gilbert-s-syndrome-for-mitral-and-aortic-valve-replacement-role-of-transesophageal-echocardiography
#12
P S Nagaraja, Naveen G Singh, S Subash, N Manjunatha, C G Prabhushankar, N Sathish
Gilbert's syndrome (GS) is an autosomal inherited disorder characterized by relative deficiency of glucuronyl transferase and poor uptake of unconjugated bilirubin by hepatocytes. Cardiac surgery on cardiopulmonary bypass (CPB) in these patients triggers further hepatic dysfunction. Transesophageal echocardiography (TEE) and Doppler assessment of hepatic vein help in assessing hepatic blood flow (HBF) during cardiac surgery. Here, we discuss anesthetic management and role of TEE in maintaining HBF perioperatively in a 25-year-old male patient with GS undergoing double valve replacement with tricuspid valve plasty...
January 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/28213806/clinical-ugt1a1-genetic-analysis-in-pediatric-patients-experience-of-a-reference-laboratory
#13
Ann M Moyer, Jennifer M Skierka, Katrina E Kotzer, Michelle L Kluge, John L Black, Linnea M Baudhuin
BACKGROUND: Neonatal hyperbilirubinemia can be severe or prolonged and warrant exploration into the underlying etiology, which may include genetic assessment of UGT1A1 for inherited disorders (i.e. Crigler-Najjar syndrome or Gilbert syndrome). METHODS: In our reference laboratory, we performed UGT1A1 gene sequencing analysis on 346 pediatric patients referred for a clinical indication of hyperbilirubinemia. RESULTS: Males (n = 241) had significantly higher mean total bilirubin concentration compared to females (n = 105) (9...
February 17, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28207997/chronically-elevated-bilirubin-protects-from-cardiac-reperfusion-injury-in-the-male-gunn-rat
#14
Bhavisha Bakrania, Eugene F Du Toit, Kevin J Ashton, Karl-Heinz Wagner, John P Headrick, Andrew C Bulmer
AIMS: Bilirubin is associated with reduced risk of cardiovascular disease, as evidenced in conditions of mild hyperbilirubinaemia (Gilbert's Syndrome). Little is known regarding myocardial stress-resistance in hyperbilirubinemic conditions or whether life-long exposure modifies cardiac function, which might contribute to protection from cardiovascular disease. METHODS: Hyperbilirubinemic rats and littermate controls underwent echocardiography at 3, 6 and 12 mo of age, with hearts subsequently assessed for resistance to 30 min of ischaemia...
February 16, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28176767/intragenic-fmr1-disease-causing-variants-a-significant-mutational-mechanism-leading-to-fragile-x-syndrome
#15
Angélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, Massimiliano Rossi, Anne-Sophie Casteleyn, Vincent des Portes, Claire Feger, Elsa Nourisson, Paul Kuentz, Claire Redin, Julien Thevenon, Anne-Laure Mosca-Boidron, Patrick Callier, Jean Muller, Gaetan Lesca, Frédéric Huet, Véronique Geoffroy, Salima El Chehadeh, Matthieu Jung, Benoit Trojak, Stéphanie Le Gras, Daphné Lehalle, Bernard Jost, Stéphanie Maury, Alice Masurel, Patrick Edery, Christel Thauvin-Robinet, Bénédicte Gérard, Jean-Louis Mandel, Laurence Faivre, Amélie Piton
Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo variant c...
February 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28168966/extracorporeal-membrane-oxygenation-for%C3%A2-acute-respiratory-distress-syndrome-after-pneumonectomy
#16
Jeremie Reeb, Anne Olland, Julien Pottecher, Xavier Delabranche, Mickael Schaeffer, Stephane Renaud, Nicola Santelmo, Romain Kessler, Gilbert Massard, Pierre-Emmanuel Falcoz
BACKGROUND: Postpneumonectomy acute respiratory distress syndrome (ppARDS) is a life-threatening condition with a disastrous prognosis. This study assessed the efficacy of venovenous extracorporeal membrane oxygenation (VV-ECMO) in adult patients with unresponsive severe ppARDS. METHODS: We retrospectively reviewed data of all patients treated with VV-ECMO for ppARDS from January 2009 to December 2015. We calculated the Sequential Organ Failure Assessment score before ECMO insertion and monitored the subsequent mechanical ventilation settings...
March 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28145671/evaluation-of-jaundice-in-adults
#17
Matthew V Fargo, Scott P Grogan, Aaron Saguil
Jaundice in adults can be an indicator of significant underlying disease. It is caused by elevated serum bilirubin levels in the unconjugated or conjugated form. The evaluation of jaundice relies on the history and physical examination. The initial laboratory evaluation should include fractionated bilirubin, a complete blood count, alanine transaminase, aspartate transaminase, alkaline phosphatase, ?-glutamyltransferase, prothrombin time and/or international normalized ratio, albumin, and protein. Imaging with ultrasonography or computed tomography can differentiate between extrahepatic obstructive and intrahepatic parenchymal disorders...
February 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/28135115/molecular-analysis-of-ephrin-a4-and-ephrin-b1-in-a-rabbit-model-of-craniosynostosis-likely-exclusion-as-the-loci-of-origin
#18
Gwen M Taylor, Gregory M Cooper, Joseph E Losee, Mark P Mooney, James Gilbert
Craniosynostosis (CS) has a prevalence of approximately 1 in every 2000 live births and is characterized by the premature fusion of one or more cranial sutures. Failure to maintain the cell lineage boundary at the coronal suture is thought to be involved in the pathology of some forms of CS. The Ephrin family of receptor tyrosine kinases consists of membrane-bound receptors and ligands that control cell patterning and the formation of developmental boundaries. Mutations in the ephrin A4 (EFNA4) and ephrin B1 (EFNB1) ligands have been linked to nonsyndromic CS and craniofrontonasal syndrome, respectively, in patient samples...
January 30, 2017: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/28132691/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#19
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, Stephan J Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A Shaw, Ankita Patel, Janice L Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M Nugent, James B Gibson, Benjamin Cogné, James R Lupski, Holly A F Stessman, Evan E Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28117080/genomic-and-clinical-profiling-of-a-national-nephrotic-syndrome-cohort-advocates-a-precision-medicine-approach-to-disease-management
#20
Agnieszka Bierzynska, Hugh J McCarthy, Katrina Soderquest, Ethan S Sen, Elizabeth Colby, Wen Y Ding, Marwa M Nabhan, Larissa Kerecuk, Shivram Hegde, David Hughes, Stephen Marks, Sally Feather, Caroline Jones, Nicholas J A Webb, Milos Ognjanovic, Martin Christian, Rodney D Gilbert, Manish D Sinha, Graham M Lord, Michael Simpson, Ania B Koziell, Gavin I Welsh, Moin A Saleem
Steroid Resistant Nephrotic Syndrome (SRNS) in children and young adults has differing etiologies with monogenic disease accounting for 2.9-30% in selected series. Using whole exome sequencing we sought to stratify a national population of children with SRNS into monogenic and non-monogenic forms, and further define those groups by detailed phenotypic analysis. Pediatric patients with SRNS were identified via a national United Kingdom Renal Registry. Whole exome sequencing was performed on 187 patients, of which 12% have a positive family history with a focus on the 53 genes currently known to be associated with nephrotic syndrome...
January 20, 2017: Kidney International
keyword
keyword
24426
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"