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Isaacs syndrome

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https://www.readbyqxmd.com/read/27875107/the-effect-of-elevated-intra-abdominal-pressure-on-tlr4-signaling-in-intestinal-mucosa-and-on-intestinal-bacterial-translocation-in-a-rat
#1
Adam Strier, Dragan Kravarusic, Arnold G Coran, Isaac Srugo, Nir Bitterman, Tatiana Dorfman, Yulia Pollak, Ibrahim Matter, Igor Sukhotnik
BACKGROUND: Recent evidence suggests that elevated intra-abdominal pressure (IAP) may adversely affect the intestinal barrier function. Toll-like receptor 4 (TLR-4) is responsible for the recognition of bacterial endotoxin or lipopolysaccharide and for initiation of the Gram-negative septic shock syndrome. The objective of the current study was to determine the effects of elevated IAP on intestinal bacterial translocation (BT) and TLR-4 signaling in intestinal mucosa in a rat model. METHODS: Male Sprague-Dawley rats were randomly assigned to one of two experimental groups: sham animals (Sham) and IAP animals who were subjected to a 15 mmHg pressure pneumoperitoneum for 30 minutes...
November 22, 2016: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/27871769/-effect-of-mechanical-vibration-on-transcutaneous-oxygen-levels-in-the-feet-of-type-2-diabetes-mellitus-patients
#2
Gerardo Rodríguez Reyes, Lidia Núñez Carrera, Aldo Alessi Montero, Adriana Solís Vivanco, Ivett Quiñones Uriostegui, Alberto Isaac Pérez Sanpablo
BACKGROUND AND OBJECTIVE: Foot conditions in patients with diabetes mellitus (DM) are major causes of morbidity and disability. Whole body vibration may promote blood circulation in the lower limbs, hence facilitating perfusion and promoting the supply of nutrients and oxygen to comprised tissues. Transcutaneous oxygen levels (TcPO2)>40mmHg in cases of diabetic foot syndrome are associated with a good prognosis in the resolution of ulcers. The objective of this study was to determine whether whole body vibration favors some parameters of interest related to complications associated with the diabetic foot syndrome...
November 18, 2016: Medicina Clínica
https://www.readbyqxmd.com/read/27867916/impact-of-human-immunodeficiency-virus-in-the-pathogenesis-and-outcome-of-patients-with-glioblastoma-multiforme
#3
Winward Choy, Carlito Lagman, Seung J Lee, Timothy T Bui, Michael Safaee, Isaac Yang
BACKGROUND: Improvement in antiviral therapies have been accompanied by an increased frequency of non-Acquired Immune Deficiency Syndrome (AIDS) defining malignancies, such as glioblastoma multiforme. Here, we investigated all reported cases of human immunodeficiency virus (HIV)-positive patients with glioblastoma and evaluated their clinical outcomes. A comprehensive review of the molecular pathogenetic mechanisms underlying glioblastoma development in the setting of HIV/AIDS is provided...
October 2016: Brain Tumor Research and Treatment
https://www.readbyqxmd.com/read/27851346/1711-multiorgan-dysfunction-syndrome-in-a-track-athlete-with-sct-role-of-plasmapheresis-and-rbc-exchange
#4
Abhishek Bhardwaj, Isaac Matthias, Jason Lam, Michael Bonk, Elizabeth Malsin, Mark Mikkelsen, Michael Sims, Roy Gay
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27799067/identification-of-a-rai1-associated-disease-network-through-integration-of-exome-sequencing-transcriptomics-and-3d-genomics
#5
Maria Nicla Loviglio, Christine R Beck, Janson J White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A Shaw, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Jacques Rougemont, Ioannis Xenarios, James R Lupski, Alexandre Reymond
BACKGROUND: Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. METHODS: We investigated a cohort of 15 individuals with a clinical suspicion of SMS who showed neither deletion in the SMS critical region nor damaging variants in RAI1 using whole exome sequencing. A combination of network analysis (co-expression and biomedical text mining), transcriptomics, and circularized chromatin conformation capture (4C-seq) was applied to verify whether modified genes are part of the same disease network as known SMS-causing genes...
November 1, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27795989/normothermic-machine-perfusion-of-deceased-donor-liver-grafts-is-associated-with-improved-postreperfusion-hemodynamics
#6
Roberta Angelico, M Thamara P R Perera, Reena Ravikumar, David Holroyd, Constantin Coussios, Hynek Mergental, John R Isaac, Asim Iqbal, Hentie Cilliers, Paolo Muiesan, Peter J Friend, Darius F Mirza
BACKGROUND: Graft reperfusion poses a critical challenge during liver transplantation and can be associated with hemodynamic instability/postreperfusion syndrome. This is sequel to ischemia-reperfusion injury and normothermic machine preservation (NMP) may affect hemodynamic changes. Herein, we characterize postreperfusion hemodynamics in liver grafts after NMP and traditional cold preservation. MATERIALS AND METHODS: Intraoperative records of patients receiving grafts after NMP (n = 6; NMP group) and cold storage (CS) (n = 12; CS group) were compared...
September 2016: Transplantation Direct
https://www.readbyqxmd.com/read/27793082/dwarfism-with-joint-laxity-in-friesian-horses-is-associated-with-a-splice-site-mutation-in-b4galt7
#7
Peter A Leegwater, Manon Vos-Loohuis, Bart J Ducro, Iris J Boegheim, Frank G van Steenbeek, Isaac J Nijman, Glen R Monroe, John W M Bastiaansen, Bert W Dibbits, Leanne H van de Goor, Ids Hellinga, Willem Back, Anouk Schurink
BACKGROUND: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to identify the gene defect that causes the recessively inherited trait in Friesian horses to understand the disease process at the molecular level...
October 28, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27673131/poster-377-the-mystery-case-of-the-edematous-and-painful-foot-refractory-lower-limb-complex-regional-pain-syndrome-crps-in-the-setting-of-lymphedema-in-a-patient-with-endometrial-cancer-and-lynch-syndrome-a-case-report
#8
Michelle Chi, Isaac P Syrop, Jonas M Sokolof
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
#9
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/27667487/-voltage-gated-potassium-channel-complex-antibodies-associated-encephalopathy-and-related-diseases
#10
Osamu Watanabe
Voltage-gated potassium channel (VGKC) complex antibodies are auto-antibodies, initially identified in acquired neuromyotonia (aNMT; Isaacs' syndrome), which cause muscle cramps and difficulty in opening the palm of the hands. Subsequently, these antibodies were found in patients presenting with aNMT along with psychosis, insomnia, and dysautonomia, collectively termed Morvan's syndrome (MoS), and in a limbic encephalopathy (LE) patient with prominent amnesia and frequent seizures. Typical LE cases have a distinctive adult-onset, frequent, brief dystonic seizure semiology that predominantly affects the arms and ipsilateral face...
September 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27663946/withdrawn-depressed-behaviors-and-error-related-brain-activity-in-youth-with-obsessive-compulsive-disorder
#11
Gregory L Hanna, Yanni Liu, Yona E Isaacs, Angela M Ayoub, Jose J Torres, Nolan B O'Hara, William J Gehring
OBJECTIVE: The pathophysiology of obsessive-compulsive disorder (OCD) involves increased activity in corticostriatal circuits connecting the anterior cingulate cortex with other brain regions. The error-related negativity (ERN) is a negative deflection in the event-related potential after an incorrect response that is believed to reflect anterior cingulate cortex activity. This study examined the relation of the ERN to OCD symptom dimensions and other childhood symptom dimensions. METHOD: The ERN, correct response negativity, and accuracy were measured during a flanker task to assess performance monitoring in 80 youth with a lifetime diagnosis of OCD and 80 matched healthy comparison participants ranging from 8 to 18 years old...
October 2016: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/27613121/decreased-soluble-ifn-%C3%AE-receptor-sifnar2-in-multiple-sclerosis-patients-a-potential-serum-diagnostic-biomarker
#12
Teresa Órpez-Zafra, Jose Pavía, Isaac Hurtado-Guerrero, Maria J Pinto-Medel, Jose Luis Rodriguez Bada, Patricia Urbaneja, Margarita Suardíaz, Luisa M Villar, Manuel Comabella, Xavier Montalban, Jose C Alvarez-Cermeño, Laura Leyva, Óscar Fernández, Begoña Oliver-Martos
BACKGROUND: The soluble isoform of the interferon-β (IFN-β) receptor (sIFNAR2) could modulate the activity of both endogenous and systemically administered IFN-β. Previously, we described lower serum sIFNAR2 levels in untreated multiple sclerosis (MS) than in healthy controls (HCs). OBJECTIVE: To assess sIFNAR2 levels in a new cohort of MS patients and HCs, as well as in patients with clinically isolated syndrome (CIS) and with other inflammatory neurological disorders (OIND) and to assess its ability as a diagnostic biomarker...
September 9, 2016: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/27525286/neuropathology-of-zika-virus-infection
#13
Isaac H Solomon, Danny A Milner, Rebecca D Folkerth
Zika virus (ZIKV) is a member of the Flaviviridae family that had been associated only with mild disease prior to the 2015 outbreak in Brazil. A dramatic increase in reported cases of microcephaly and Guillain-Barré syndrome during this time prompted significant research into possible associations with ZIKV and its neurotropic properties. Infection of neural progenitor cells and organoids have been shown to induce apoptosis and dysregulation of growth, and mouse studies have demonstrated viral replication in brain tissue in adults, as well as vertical transmission resulting in embryonic brain abnormalities...
June 2016: Journal of Neuroinfectious Diseases
https://www.readbyqxmd.com/read/27477770/the-complement-component-c5-promotes-liver-steatosis-and-inflammation-in-murine-non-alcoholic-liver-disease-model
#14
Lorena Bavia, Bruno Cogliati, Juliano Bertollo Dettoni, Venancio Avancini Ferreira Alves, Lourdes Isaac
Non-Alcoholic Fatty Liver Disease (NALD) is considering a hepatic manifestation of metabolic syndrome. Although the pathogenesis of NALD is not completely understood, insulin resistance and inflammatory cytokines are implicated. Considering that component C5 is a central mediator of inflammation, we investigated the role of C5 in the establishment of NALD. Eight to ten-week old B6 C5(+) and A/J C5(-) male mice were fed a high fat diet containing glucose (HFDG) for 6 and 10 weeks. We observed that B6 C5(+) mice HFDG-fed for 10 weeks developed hepatomegaly, triglycerides (TG) accumulation, steatosis and enhanced liver TNF-α, IL-6, IL-12p70 and IL-17 levels when compared to A/J C5(-) mice...
September 2016: Immunology Letters
https://www.readbyqxmd.com/read/27452794/developing-an-algorithm-to-detect-early-childhood-obesity-in-two-tertiary-pediatric-medical-centers
#15
Todd Lingren, Vidhu Thaker, Cassandra Brady, Bahram Namjou, Stephanie Kennebeck, Jonathan Bickel, Nandan Patibandla, Yizhao Ni, Sara L Van Driest, Lixin Chen, Ashton Roach, Beth Cobb, Jacqueline Kirby, Josh Denny, Lisa Bailey-Davis, Marc S Williams, Keith Marsolo, Imre Solti, Ingrid A Holm, John Harley, Isaac S Kohane, Guergana Savova, Nancy Crimmins
OBJECTIVE: The objective of this study is to develop an algorithm to accurately identify children with severe early onset childhood obesity (ages 1-5.99 years) using structured and unstructured data from the electronic health record (EHR). INTRODUCTION: Childhood obesity increases risk factors for cardiovascular morbidity and vascular disease. Accurate definition of a high precision phenotype through a standardize tool is critical to the success of large-scale genomic studies and validating rare monogenic variants causing severe early onset obesity...
July 20, 2016: Applied Clinical Informatics
https://www.readbyqxmd.com/read/27441098/speech-activated-myoclonus-mimicking-stuttering-in-a-patient-with-myoclonus-dystonia-syndrome
#16
David A Isaacs, Peter Hedera
BACKGROUND: Acquired neurogenic stuttering has been considered a fairly uncommon clinical occurrence; speech-activated myoclonus is a rare entity that can mimic stuttering and is caused by a wide array of etiologies. CASE REPORT: Here we report a patient with myoclonus-dystonia syndrome (MDS), due to an identified disease-causing mutation, who displayed speech-activated myoclonus mimicking stuttering. DISCUSSION: In MDS, myoclonus has only infrequently been reported to affect speech...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27427983/destabilized-smc5-6-complex-leads-to-chromosome-breakage-syndrome-with-severe-lung-disease
#17
Saskia N van der Crabben, Marije P Hennus, Grant A McGregor, Deborah I Ritter, Sandesh C S Nagamani, Owen S Wells, Magdalena Harakalova, Ivan K Chinn, Aaron Alt, Lucie Vondrova, Ron Hochstenbach, Joris M van Montfrans, Suzanne W Terheggen-Lagro, Stef van Lieshout, Markus J van Roosmalen, Ivo Renkens, Karen Duran, Isaac J Nijman, Wigard P Kloosterman, Eric Hennekam, Jordan S Orange, Peter M van Hasselt, David A Wheeler, Jan J Palecek, Alan R Lehmann, Antony W Oliver, Laurence H Pearl, Sharon E Plon, Johanne M Murray, Gijs van Haaften
The structural maintenance of chromosomes (SMC) family of proteins supports mitotic proliferation, meiosis, and DNA repair to control genomic stability. Impairments in chromosome maintenance are linked to rare chromosome breakage disorders. Here, we have identified a chromosome breakage syndrome associated with severe lung disease in early childhood. Four children from two unrelated kindreds died of severe pulmonary disease during infancy following viral pneumonia with evidence of combined T and B cell immunodeficiency...
August 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27380173/transforming-growth-factor-%C3%AE-1-t869c-gene-polymorphism-is-associated-with-acquired-sick-sinus-syndrome-via-linking-a-higher-serum-protein-level
#18
Jan-Yow Chen, Jiung-Hsiun Liu, Hong-Dar Isaac Wu, Kuo-Hung Lin, Kuan-Cheng Chang, Ying-Ming Liou
BACKGROUND: Familial sick sinus syndrome is associated with gene mutations and dysfunction of ion channels. In contrast, degenerative fibrosis of the sinus node tissue plays an important role in the pathogenesis of acquired sick sinus syndrome. There is a close relationship between transforming growth factor-β1 mediated cardiac fibrosis and acquired arrhythmia. It is of interest to examine whether transforming growth factor-β1 is involved in the pathogenesis of acquired sick sinus syndrome...
2016: PloS One
https://www.readbyqxmd.com/read/27269610/t-lymphocyte-activation-markers-as-predictors-of-responsiveness-to-rituximab-among-patients-with-fsgs
#19
Chang-Yien Chan, Isaac Desheng Liu, Lourdes Paula Resontoc, Kar-Hui Ng, Yiong-Huak Chan, Perry Yew-Weng Lau, Mya Than, Stanley C Jordan, Kong-Peng Lam, Wee-Song Yeo, Hui-Kim Yap
BACKGROUND AND OBJECTIVES: Rituximab is used with variable success in difficult FSGS. Because B cell depletion significantly affects T cell function, we characterized T cell subsets in patients with FSGS to determine if an immunologic signature predictive of favorable response to rituximab could be identified. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Twenty-two consecutive patients with FSGS (median age =14.4 years old; range =6.2-25.0 years old) and age of onset of nephrotic syndrome 1-18 years old receiving rituximab for clinical indications between October of 2009 and February of 2014 were studied...
August 8, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27249773/how-far-do-we-go-with-genetic-evaluation-gene-panel-and-tumor-testing
#20
Filipa Lynce, Claudine Isaacs
The traditional model by which an individual was identified as harboring a hereditary susceptibility to cancer was to test for a mutation in a single gene or a finite number of genes associated with a particular syndrome (e.g., BRCA1 and BRCA2 for hereditary breast and ovarian cancer or mismatch repair genes for Lynch syndrome). The decision regarding which gene or genes to test for was based on a review of the patient's personal medical history and their family history. With advances in next-generation DNA sequencing technology, offering simultaneous testing for multiple genes associated with a hereditary susceptibility to cancer is now possible...
2016: American Society of Clinical Oncology Educational Book
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