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https://www.readbyqxmd.com/read/29137095/differences-in-ugt1a1-gene-mutations-and-pathological-liver-changes-between-chinese-patients-with-gilbert-syndrome-and-crigler-najjar-syndrome-type-ii
#1
Lei Sun, Man Li, Liang Zhang, Xiaoying Teng, Xiangmei Chen, Xingang Zhou, Zhiyuan Ma, Liming Qi, Peng Wang
Diagnosis of Crigler-Najjar syndrome type II (CNS-II) and Gilbert syndrome (GS) based on the serum bilirubin concentration is difficult, because this parameter can fluctuate under certain conditions. The aim of this study was to explore differences in UGT1A1 gene mutations, which cause both CNS and GS, and pathological changes between CNS-II and GS.Ninety-five Chinese patients with hereditary unconjugated hyperbilirubinemia were enrolled in this study. Peripheral blood samples obtained from patients were used to evaluate bilirubin levels and for UGT1A1 gene testing...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29096787/structural-and-functional-phenotyping-of-the-failing-heart-is-the-left-ventricular-ejection-fraction-obsolete
#2
REVIEW
Michael R Bristow, David P Kao, Khadijah K Breathett, Natasha L Altman, John Gorcsan, Edward A Gill, Brian D Lowes, Edward M Gilbert, Robert A Quaife, Douglas L Mann
Diagnosis, prognosis, treatment, and development of new therapies for diseases or syndromes depend on a reliable means of identifying phenotypes associated with distinct predictive probabilities for these various objectives. Left ventricular ejection fraction (LVEF) provides the current basis for combined functional and structural phenotyping in heart failure by classifying patients as those with heart failure with reduced ejection fraction (HFrEF) and those with heart failure with preserved ejection fraction (HFpEF)...
November 2017: JACC. Heart Failure
https://www.readbyqxmd.com/read/29064599/spinal-cord-stimulation-in-patients-with-complex-regional-pain-syndrome-a-possible-target-for-immunomodulation
#3
Nadia Kriek, Marco W J Schreurs, J George Groeneweg, Wim A Dik, Gilbert C H Tjiang, Ismail Gültuna, Dirk L Stronks, Frank J P M Huygen
OBJECTIVE: Complex regional pain syndrome (CRPS) is characterized by continued pain disproportional to the inciting event, sensory abnormalities, vasomotor and sudomotor disturbances, and motor and trophic changes. Inflammatory involvement has been demonstrated in past CRPS studies resulting in pain, swelling, and warmth. Currently, it is unknown whether spinal cord stimulation (SCS) has immunomodulatory properties. The aim of this study was to determine whether SCS has immunomodulatory properties in CRPS patients...
October 24, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/29061678/letter-re-teaching-neuroimages-acute-parinaud-syndrome
#4
Kavin Vanikieti, Marc Bouffard, Aubrey Gilbert, Joseph Rizzo
No abstract text is available yet for this article.
October 24, 2017: Neurology
https://www.readbyqxmd.com/read/28987255/genetic-testing-in-liver-disease-what-to-order-in-whom-and-when
#5
REVIEW
Emily A Schonfeld, Robert S Brown
Genetic causes of liver disease lead to a wide range of presentations, from mildly abnormal liver tests to acute liver failure. This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, lysosomal acid lipase deficiency, Gilbert syndrome, alpha-1 antitrypsin deficiency, and Wilson disease.
November 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28985505/combined-crispri-a-based-chemical-genetic-screens-reveal-that-rigosertib-is-a-microtubule-destabilizing-agent
#6
Marco Jost, Yuwen Chen, Luke A Gilbert, Max A Horlbeck, Lenno Krenning, Grégory Menchon, Ankit Rai, Min Y Cho, Jacob J Stern, Andrea E Prota, Martin Kampmann, Anna Akhmanova, Michel O Steinmetz, Marvin E Tanenbaum, Jonathan S Weissman
Chemical libraries paired with phenotypic screens can now readily identify compounds with therapeutic potential. A central limitation to exploiting these compounds, however, has been in identifying their relevant cellular targets. Here, we present a two-tiered CRISPR-mediated chemical-genetic strategy for target identification: combined genome-wide knockdown and overexpression screening as well as focused, comparative chemical-genetic profiling. Application of these strategies to rigosertib, a drug in phase 3 clinical trials for high-risk myelodysplastic syndrome whose molecular target had remained controversial, pointed singularly to microtubules as rigosertib's target...
October 5, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28983876/novel-missense-lcat-gene-mutation-associated-with-an-atypical-phenotype-of-familial-lcat-deficiency-in-two-portuguese-brothers
#7
I Castro-Ferreira, Rute Carmo, Sérgio Estrela Silva, Otília Corrêa, Susana Fernandes, Susana Sampaio, Rodrigues-Pereira Pedro, Augusta Praça, João Paulo Oliveira
Familial lecithin-cholesterol acyltransferase deficiency (FLD) is a rare recessive disorder of cholesterol metabolism, caused by loss-of-function mutations in the human LCAT gene, leading to alterations in the lipid/lipoprotein profile, with extremely low HDL levels.The classical FLD phenotype is characterized by diffuse corneal opacification, haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the corneas, has been reported in a few families worldwide.We describe an intermediate phenotype of LCAT deficiency, with CKD preceding the development of corneal clouding, in two Portuguese brothers apparently homozygous for a novel missense LCAT gene mutation...
October 6, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28940135/ectopic-retroperitoneal-adrenocortical-carcinoma-in-the-setting-of-lynch-syndrome
#8
Jesse P Wright, Kathleen W Montgomery, Joshua Tierney, Jill Gilbert, Carmen C Solórzano, Kamran Idrees
Adrenocortical carcinoma (ACC) is rare within the adult population. Ectopic ACC proves even rarer. This variant is formed by cortical fragments arrested during embryologic migration. ACC is also known to be associated with several genetic syndromes and has recently been linked to Lynch syndrome in 3% of cases. We present the case of a 68-year-old male with a confirmed diagnosis of Lynch syndrome secondary to a germline MSH2 mismatch-repair gene-mutation who presented with 2 months history of non-specific abdominal pain...
September 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28922972/perioperative-anesthetic-management-of-patients-having-liver-transplantation-for-uncommon-conditions
#9
Anthony Bonavia, Justin Pachuski, Dmitri Bezinover
This review focuses on the perioperative anesthetic management of patients having liver transplantation (LT) performed for several uncommon indications or in combination with rare pathology. Conditions discussed in the article include Alagille syndrome, hypertrophic cardiomyopathy, Gilbert's syndrome, porphyria, Wilson's disease, and Budd-Chiari syndrome. In comparison to other indications, LT in these settings is infrequent because of the low incidence of these pathologies. Most of these conditions (with the exception of Gilbert syndrome) are associated with a high probability of significant perioperative complications and increased mortality and morbidity...
September 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28895791/general-lack-of-correlations-between-age-and-signs-of-the-metabolic-syndrome-in-subjects-with-non-diabetic-fasting-glucose-values
#10
Harry G Preuss, Nate Mrvichin, Dallas Clouatre, Debasis Bagchi, Jeffrey M Preuss, Nicholas V Perricone, Anand Swaroop, Gilbert R Kaats
BACKGROUND: Insulin resistance and advancing age are well-recognized risk factors for metabolic syndrome. Recent reports indicate that fasting glucose levels in non-diabetic patients correlate appropriately with the development of certain elements in metabolic syndrome, which suggest a cause-effect relationship with insulin resistance. OBJECTIVE: The present investigation assessed whether a significant association exists between chronological age and various elements of metabolic syndrome in this same group of subjects possessing non-diabetic fasting glucose levels...
September 12, 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28852159/loss-of-the-podocyte-glucocorticoid-receptor-exacerbates-proteinuria-after-injury
#11
Han Zhou, Xuefei Tian, Alda Tufro, Gilbert Moeckel, Shuta Ishibe, Julie Goodwin
Nephrotic syndrome is a common disorder in adults and children whose etiology is largely unknown. Glucocorticoids remain the mainstay of therapy in most cases, though their mechanism of action remains poorly understood. Emerging evidence suggests that immunomodulatory therapies used in nephrotic syndrome directly target the podocytes. To study how steroids directly affect the podocytes in the treatment of proteinuria, we created a mouse model with podocyte-specific deletion of the glucocorticoid receptor. The podocyte-specific glucocorticoid receptor (GR) knockout mice had similar renal function and protein excretion compared to wild type...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28835498/structural-transitions-of-the-conserved-and-metastable-hantaviral-glycoprotein-envelope
#12
Ilona Rissanen, Robert Stass, Antra Zeltina, Sai Li, Jussi Hepojoki, Karl Harlos, Robert J C Gilbert, Juha T Huiskonen, Thomas A Bowden
Hantaviruses are zoonotic pathogens that cause severe hemorrhagic fever and pulmonary syndrome. The outer membrane of the hantavirus envelope displays a lattice of two glycoproteins, Gn and Gc, which orchestrate host cell recognition and entry. Here, we describe the crystal structure of the Gn glycoprotein ectodomain from the Asiatic Hantaan virus (HTNV), the most prevalent pathogenic hantavirus. Structural overlay analysis reveals that the HTNV Gn fold is highly similar to the Gn of Puumala virus (PUUV), a genetically and geographically distinct and less pathogenic hantavirus found predominantly in northeastern Europe, confirming that the hantaviral Gn fold is architecturally conserved across hantavirus clades...
November 1, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28779830/role-of-procalcitonin-in-the-management-of-infected-patients-in-the-intensive-care-unit
#13
REVIEW
David N Gilbert
The combination of molecular pathogen diagnostics and the biomarker procalcitonin (PCT) are changing the use of antimicrobials in patients admitted to critical care units with severe community-acquired pneumonia, possible septic shock, or other clinical syndromes. An elevated serum PCT level is good supportive evidence of a bacterial pneumonia, whereas a low serum PCT level virtually eliminates an etiologic role for bacteria even if the culture for a potential bacterial pathogen is positive. Serum PCT levels can be increased in any shocklike state; a low PCT level eliminates invasive bacterial infection as an etiology in more than 90% of patients...
September 2017: Infectious Disease Clinics of North America
https://www.readbyqxmd.com/read/28750931/factor-h-autoantibody-is-associated-with-atypical-hemolytic-uremic-syndrome-in-children-in-the-united-kingdom-and-ireland
#14
Vicky Brocklebank, Sally Johnson, Thomas P Sheerin, Stephen D Marks, Rodney D Gilbert, Kay Tyerman, Meredith Kinoshita, Atif Awan, Amrit Kaur, Nicholas Webb, Shivaram Hegde, Eric Finlay, Maggie Fitzpatrick, Patrick R Walsh, Edwin K S Wong, Caroline Booth, Larissa Kerecuk, Alan D Salama, Mike Almond, Carol Inward, Timothy H Goodship, Neil S Sheerin, Kevin J Marchbank, David Kavanagh
Factor H autoantibodies can impair complement regulation, resulting in atypical hemolytic uremic syndrome, predominantly in childhood. There are no trials investigating treatment, and clinical practice is only informed by retrospective cohort analysis. Here we examined 175 children presenting with atypical hemolytic uremic syndrome in the United Kingdom and Ireland for factor H autoantibodies that included 17 children with titers above the international standard. Of the 17, seven had a concomitant rare genetic variant in a gene encoding a complement pathway component or regulator...
November 2017: Kidney International
https://www.readbyqxmd.com/read/28697030/severe-postpartum-headache-and-hypertension-caused-by-reversible-cerebral-vasoconstriction-syndrome-a-case-report
#15
Ed McIlroy, Rajamani Sethuraman, Reshma Woograsingh, Catherine Nelson-Piercy, Edward Gilbert-Kawai
Reversible cerebrovascular vasoconstriction syndrome is an uncommon condition that presents as severe headache and hypertension. Recent literature suggests a 1% incidence in postpartum headache cases. It can cause subarachnoid hemorrhages, cerebral ischemia, and seizures. It is often misdiagnosed as postdural puncture headache or preeclampsia. In this case, a postpartum woman, who had received epidural anesthesia for labor, presented 5 days postpartum with severe headache that did not resolve with an epidural blood patch...
November 15, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28692147/persisting-hyperbilirubinemia-in-patients-with-paroxysmal-nocturnal-hemoglobinuria-pnh-chronically-treated-with-eculizumab-the-role-of-hepatocanalicular-transporter-variants
#16
Ferras Alashkar, Susanne N Weber, Colin Vance, Dörte Herich-Terhürne, Ulrich Dührsen, Frank Lammert, Alexander Röth
BACKGROUND: Eculizumab-treated paroxysmal nocturnal hemoglobinuria (PNH) patients (pts) show a dramatic decrease in serum lactate dehydrogenase (LDH) activities and bilirubin concentrations. However, some pts remain hyperbilirubinemic, possibly indicating an inadequate response due to extravascular hemolysis. METHODS: Mutation analyses of hepatocanalicular transporter/nuclear receptor variants (ABCB4, ABCB11, ATP8B1, NR1H4) were performed in eight (five of eight males; mean age 38 years [range 26-68 years]) out of the 174 pts with PNH/-clone at our department due to a persistent increase in total bilirubin concentrations (median 3...
July 10, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28672420/-30-year-old-patient-with-suspected-marfan-syndrome-and-progressive-gait-disturbance
#17
Maryam Balke, Helmar C Lehmann, Gereon R Fink, Gilbert Wunderlich
History A 30-year-old man presented with a history of progressive muscle weakness, difficulty in concentrating, and a slender habitus since early childhood. Marfan syndrome was suspected since the age of 14. Examinations 13 years later he was examined by Marfan experts and by genetic testing and Marfan syndrome could not be confirmed. Further neurological examination revealed the suspected diagnosis of myotonic dystrophy type 1, which was confirmed by genetic testing. Treatment and course Similar to Marfan syndrome, myotonic dystrophy is a multisystemic disorder with the risk of cardiac arrythmias...
July 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28642290/coronary-events-complicating-infective-endocarditis
#18
Virginie Roux, Erwan Salaun, Christophe Tribouilloy, Sandrine Hubert, Yohann Bohbot, Jean-Paul Casalta, Pierre-Antoine Barral, Dan Rusinaru, Frederique Gouriet, Cecile Lavoute, Julie Haentjens, Mathieu Di Biscegli, Aurelie Dehaene, Sebastien Renard, Anne-Claire Casalta, Julie Pradier, Jean-Francois Avierinos, Alberto Riberi, Marc Lambert, Frederic Collart, Alexis Jacquier, Franck Thuny, Laurence Camoin-Jau, Hubert Lepidi, Didier Raoult, Gilbert Habib
OBJECTIVE: Acute coronary syndromes (ACS) are a rare complication of infective endocarditis (IE). Only case reports and small studies have been published to date. We report the largest series of ACS in IE. The aim of our study was to describe the incidence and mechanisms of ACS associated with IE, to assess their prognostic impact and to describe their management. METHODS: In a bicentre prospective observational cohort study, all patients with a definite diagnosis of IE were prospectively included...
June 22, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28612834/sex-chromosome-aneuploidies-and-copy-number-variants-a-further-explanation-for-neurodevelopmental-prognosis-variability
#19
Jessica Le Gall, Mathilde Nizon, Olivier Pichon, Joris Andrieux, Séverine Audebert-Bellanger, Sabine Baron, Claire Beneteau, Frédéric Bilan, Odile Boute, Tiffany Busa, Valérie Cormier-Daire, Claude Ferec, Mélanie Fradin, Brigitte Gilbert-Dussardier, Sylvie Jaillard, Aia Jønch, Dominique Martin-Coignard, Sandra Mercier, Sébastien Moutton, Caroline Rooryck, Elise Schaefer, Marie Vincent, Damien Sanlaville, Cédric Le Caignec, Sébastien Jacquemont, Albert David, Bertrand Isidor
Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's syndrome, XYY syndrome, and Triple X syndrome are associated with a large range of neurological outcome. Another genetic event such as another cytogenetic abnormality may explain a part of this variable expressivity. In this study, we have recruited fourteen patients with intellectual disability or developmental delay carrying SCA associated with a copy-number variant (CNV)...
August 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28592168/homozygous-mutation-on-the-%C3%AE-globin-polyadenylation-signal-in-a-tunisian-patient-with-%C3%AE-thalassemia-intermedia-and-coinheritance-of-gilbert-s-syndrome
#20
Faten Haddad, Nawel Trabelsi, Leila Chaouch, Imen Darragi, Meriem Oueslati, Imen Boudriga, Dorra Chaouachi, Wijdene El-Borgi, Raouf Hafsia, Salem Abbes, Houyem Ouragini
We report here the clinical, hematological and molecular data in a 50-year-old patient with β-thalassemia intermedia (β-TI) caused by a homozygous β(+) mutation on the β-globin gene polyadenylation (polyA) signal (AATAAA>AAAAAA). β Haplotype analysis was accomplished by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Haplotype and framework analysis showed that this mutation is associated with the [- - - - + + +] β haplotype and framework 1 (CCGCT) (FW1). This mutation was previously reported in the heterozygous state in association with the codon 9 (+TA) mutation in a β-TI patient originating from Tunisia...
March 2017: Hemoglobin
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