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https://www.readbyqxmd.com/read/27907151/changes-in-galanin-systems-in-a-rat-model-of-post-traumatic-stress-disorder-ptsd
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27751291/long-qt-syndrome-and-torsades-de-pointes-complicating-mitral-valve-replacement
#9
Shegu Gilbert, Devender Singh, M Lawrance Jesuraj
Severe QT interval prolongation >500ms occurs in one quarter of cardiac surgical patients in the perioperative period while moderate prolongation occurs in most of them. Prolonged QT interval may be associated with torsades de pointes and lead to sudden cardiac death. Because of the high incidence of prolonged QT in cardiac surgery patients and its perioperative adverse outcomes, it is vital to identify it early and take necessary precautions. We report and discuss the catastrophic events and management of two patients with long QT syndrome complicating mitral valve replacement...
September 2016: Indian Heart Journal
https://www.readbyqxmd.com/read/27708529/imatinib-induced-hyperbilirubinemia-with-ugt1a1-28-promoter-polymorphism-first-case-series-in-patients-with-gastrointestinal-stromal-tumor
#10
Muhammad Wasif Saif, Melissa Hennessey Smith, Antonia Maloney, Robert B Diasio
Imatinib, an orally administered protein-tyrosine kinase inhibitor (TKI) is indicated for the treatment of chronic myeloid leukemia (CML) and gastrointestinal stromal tumor (GIST). Severe hepatotoxicity associated with imatinib is rare, and relationship to polymorphism of uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) expression and related frequency of hyperbilirubinemia or toxicity are not well known. We present a case series patients who developed hyperbilirubinemia while on oral administration imatinib for treatment of GIST...
October 2016: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/27681308/a-case-of-acquired-gilbert-s-syndrome
#11
Jonathan Leong, Maria-Stella Serrano
No abstract text is available yet for this article.
September 27, 2016: Clinical Pediatrics
https://www.readbyqxmd.com/read/27673361/medullary-thyroid-carcinoma-associated-with-germline-ret-k666n-mutation
#12
Jian Yu Xu, Elizabeth G Grubbs, Steven G Waguespack, Camilo Jimenez, Robert F Gagel, Julie Ann Sosa, Rena Vassilopoulou-Sellin, Ramona Dadu, Mimi I Hu, Chardria S Trotter, Michelle Jackson, Thereasa A Rich, Samuel M Hyde, Steven I Sherman, Gilbert J Cote
BACKGROUND: Multiple endocrine neoplasia type 2 is an autosomal dominant inherited syndrome caused by activating mutations in the RET proto-oncogene. The K666N RET DNA variant was previously reported in two isolated medullary thyroid carcinoma (MTC) cases, but no family studies are available, and its oncogenic significance remains unknown. METHODS: The clinical features, genetic data, and family information of eight index MTC patients with a germline RET K666N variant were assessed...
September 27, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27673085/poster-330-rehabilitation-of-a-patient-with-chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-clippers-syndrome-a-case-report
#13
Gilbert Siu, Don Vongviphut, Megha Mandalaywala
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27671877/preliminary-evaluation-of-child-self-rating-using-the-child-tourette-syndrome-impairment-scale
#14
Kelly Isaacs Cloes, Kara S Francis Barfell, Paul S Horn, Steve W Wu, Sarah E Jacobson, Kathleen J Hart, Donald L Gilbert
AIM: To evaluate and compare how children with Tourette syndrome and parents rate tic and non-tic behavioral related impairment in home, school, and social domains; to compare these with clinician tic ratings; and to identify factors that may predict greater impairment. METHOD: In a sample of 85 Tourette syndrome and 92 healthy control families, the Child Tourette Syndrome Impairment Scale, designed for parent-report and which includes 37 items rated for tic and non-tic impairment, was administered to parents and, with the referent modified, to children ages 9 to 17 years...
September 27, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27666369/tbce-mutations-cause-early-onset-progressive-encephalopathy-with-distal-spinal-muscular-atrophy
#15
Antonella Sferra, Gilbert Baillat, Teresa Rizza, Sabina Barresi, Elisabetta Flex, Giorgio Tasca, Adele D'Amico, Emanuele Bellacchio, Andrea Ciolfi, Viviana Caputo, Serena Cecchetti, Annalaura Torella, Ginevra Zanni, Daria Diodato, Emanuela Piermarini, Marcello Niceta, Antonietta Coppola, Enrico Tedeschi, Diego Martinelli, Carlo Dionisi-Vici, Vincenzo Nigro, Bruno Dallapiccola, Claudia Compagnucci, Marco Tartaglia, Georg Haase, Enrico Bertini
Tubulinopathies constitute a family of neurodevelopmental/neurodegenerative disorders caused by mutations in several genes encoding tubulin isoforms. Loss-of-function mutations in TBCE, encoding one of the five tubulin-specific chaperones involved in tubulin folding and polymerization, cause two rare neurodevelopmental syndromes, hypoparathyroidism-retardation-dysmorphism and Kenny-Caffey syndrome. Although a missense mutation in Tbce has been associated with progressive distal motor neuronopathy in the pmn/pmn mice, no similar degenerative phenotype has been recognized in humans...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27664246/prevention-and-screening-in-brca-mutation-carriers-and-other-breast-ovarian-hereditary-cancer-syndromes-esmo-clinical-practice-guidelines-for-cancer-prevention-and-screening
#16
S Paluch-Shimon, F Cardoso, C Sessa, J Balmana, M J Cardoso, F Gilbert, E Senkus
No abstract text is available yet for this article.
September 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/27659859/epidemiology-of-primary-rubella-infection-in-the-central-african-republic-data-from-measles-surveillance-2007-2014
#17
Alain Farra, Marilou Pagonendji, Alexandre Manikariza, Dieubéni Rawago, Rock Ouambita-Mabo, Gilbert Guifara, Ionela Gouandjika-Vasilache
BACKGROUND: Although rubella is generally considered a benign childhood disease, infection of a pregnant woman can cause foetal congenital rubella syndrome, which results in embryo-foetal disease and malformations. The syndrome is still a public health problem in developing countries where the vaccine has not yet been introduced, such as the Central African Republic (CAR). The aim of the study reported here was to define the epidemiology of primary rubella infection, in order to determine its effect on morbidity rates in the country...
2016: BMC Infectious Diseases
https://www.readbyqxmd.com/read/27641049/conservation-implications-of-physiological-carry-over-effects-in-bats-recovering-from-white-nose-syndrome
#18
Christina M Davy, Gabriela F Mastromonaco, Julia L Riley, James H Baxter-Gilbert, Heather Mayberry, Craig K R Willis
Although it is well documented that infectious diseases can pose threats to biodiversity, the potential long-term consequences of pathogen exposure on individual fitness and its effects on population viability have rarely been studied. We tested the hypothesis that pathogen exposure causes physiological carry-over effects with a pathogen that is uniquely suited to this question because the infection period is specific and time limited. The fungus Pseudogymnoascus destructans causes white-nose syndrome (WNS) in hibernating bats, which either die due to the infection while hibernating or recover following emergence from hibernation...
September 18, 2016: Conservation Biology: the Journal of the Society for Conservation Biology
https://www.readbyqxmd.com/read/27628566/genetic-and-biochemical-study-of-dual-hereditary-jaundice-dubin-johnson-and-gilbert-s-syndromes-haplotyping-and-founder-effect-of-deletion-in-abcc2
#19
Lenka Slachtova, Ondrej Seda, Jana Behunova, Martin Mistrik, Pavel Martasek
No abstract text is available yet for this article.
October 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27610311/relation-between-unconjugated-bilirubin-and-rdw-neutrophil-to-lymphocyte-ratio-platelet-to-lymphocyte-ratio-in-gilbert-s-syndrome
#20
Hakan Sarlak, Erol Arslan, Mustafa Cakar, Mustafa Tanriseven, Salim Ozenc, Muharrem Akhan, Fatih Bulucu
BACKGROUND: Unconjugated bilirubin (UCB) plays a protective role in coronary artery disease. Red cell distribution width (RDW), neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) are inflammatory biomarkers and higher levels are related to atherosclerosis and adverse cardiovascular events. AIM: We aimed to investigate the relation between UCB levels and RDW, NLR, PLR in people with Gilbert's syndrome (GS). MATERIALS AND METHODS: We selected 2166 subjects (1082 with GS and 1084 healthy controls) from a database having 33,695 people...
2016: SpringerPlus
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