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https://www.readbyqxmd.com/read/29332042/protective-effects-of-indian-spice-curcumin-against-amyloid-%C3%AE-in-alzheimer-s-disease
#1
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
#2
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
https://www.readbyqxmd.com/read/29279144/mild-hyperbilirubinaemia-as-an-endogenous-mitigator-of-overweight-and-obesity-implications-for-improved-metabolic-health
#3
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
https://www.readbyqxmd.com/read/29207733/the-association-between-prolonged-jaundice-and-tata-box-dinucleotide-repeats-in-gilbert-s-syndrome
#4
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
#5
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...
December 1, 2017: 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
#6
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
https://www.readbyqxmd.com/read/29196523/dna-replication-timing-alterations-identify-common-markers-between-distinct-progeroid-diseases
#7
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 1, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29193635/inactivation-of-ammecr1-is-associated-with-growth-bone-and-heart-alterations
#8
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...
November 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29183300/metabolic-syndrome-and-its-components-among-university-students-in-kenya
#9
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
https://www.readbyqxmd.com/read/29178447/phenotype-and-genotype-analysis-of-a-french-cohort-of-119-patients-with-charge-syndrome
#10
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%...
November 27, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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