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gilbert syndrome

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
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...
March 13, 2018: Journal of the American College of Nutrition
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...
January 1, 2018: Medicine, Science, and the Law
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
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...
February 9, 2018: Annals of Surgical Oncology
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...
February 1, 2018: Critical Reviews in Clinical Laboratory Sciences
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
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...
January 1, 2018: Journal of Child Neurology
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
Corinne Urwyler-Rösselet, Giel Tanghe, Kirsten Leurs, Barbara Gilbert, Riet De Rycke, Michiel De Bruyne, Saskia Lippens, Sonja Bartunkova, Philippe De Groote, Carine Niessen, Marek Haftek, Peter Vandenabeele, Wim Declercq
In humans, 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 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 knockout mice (RIPK4EKO)...
January 6, 2018: Journal of Investigative Dermatology
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"...
December 14, 2017: Atherosclerosis
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
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
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
Juan Carlos Rivera-Mulia, Romain Desprat, Claudia Trevilla-Garcia, Daniela Cornacchia, Hélène Schwerer, Takayo Sasaki, Jiao Sima, Tyler Fells, Lorenz Studer, Jean-Marc Lemaitre, David M Gilbert
Progeroid syndromes are rare genetic disorders that phenotypically resemble natural aging. Different causal mutations have been identified, but no molecular alterations have been identified that are in common to these diseases. DNA replication timing (RT) is a robust cell type-specific epigenetic feature highly conserved in the same cell types from different individuals but altered in disease. Here, we characterized DNA RT program alterations in Hutchinson-Gilford progeria syndrome (HGPS) and Rothmund-Thomson syndrome (RTS) patients compared with natural aging and cellular senescence...
December 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
Mariana Moysés-Oliveira, Giuliana Giannuzzi, Richard J Fish, Jill A Rosenfeld, Florence Petit, Maria de Fatima Soares, Leslie Domenici Kulikowski, Adriana Di-Battista, Malú Zamariolli, Fan Xia, Thomas Liehr, Nadezda Kosyakova, Gianna Carvalheira, Michael Parker, Eleanor G Seaby, Sarah Ennis, Rodney D Gilbert, R Tanner Hagelstrom, Maria L Cremona, Wenhui L Li, Alka Malhotra, Anjana Chandrasekhar, Denise L Perry, Ryan J Taft, Julie McCarrier, Donald G Basel, Joris Andrieux, Taiza Stumpp, Fernanda Antunes, Gustavo José Pereira, Marguerite Neerman-Arbez, Vera Ayres Meloni, Margaret Drummond-Borg, Maria Isabel Melaragno, Alexandre Reymond
We report five individuals with loss-of-function of the X-linked AMMECR1: a girl with a balanced X-autosome translocation and inactivation of the normal X-chromosome; two boys with maternally inherited and de novo nonsense variants; and two half-brothers with maternally inherited microdeletion variants. They present with short stature, cardiac and skeletal abnormalities, and hearing loss. Variants of unknown significance in AMMECR1 in four male patients from two families with partially overlapping phenotypes were previously reported...
February 2018: Human Mutation
Samuel Mungai Mbugua, Samuel Thuo Kimani, Gilbert Munyoki
BACKGROUND: Metabolic syndrome refers to a cluster of interrelated disorders which occur together causing an increase in the risk of developing cardiovascular disease and diabetes. The university population is an understudied group despite the increase in the frequency of related disorders and metabolic risk factors e.g. obesity and diabetes, majorly due to the assumption that they are in their most active phase of life therefore healthy. This study looked at metabolic syndrome, the sedentary lifestyles and dietary habits present among university students attending Mount Kenya University, main campus...
November 28, 2017: BMC Public Health
Marine Legendre, Véronique Abadie, Tania Attié-Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin-Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre-Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent-Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu-Dramard, Marie-Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quélin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne-Marie Guerrot, Massimiliano Rossi, Alice Masurel-Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez-Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or atypical forms on the basis of major and minor clinical criteria. The detection rate of a pathogenic variant in the CHD7 gene varies from 67% to 90%...
December 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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)
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
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