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Isaacs syndrome

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https://www.readbyqxmd.com/read/28222181/correction-genomic-and-clinical-effects-associated-with-a-relaxation-response-mind-body-intervention-in-patients-with-irritable-bowel-syndrome-and-inflammatory-bowel-disease
#1
Braden Kuo, Manoj Bhasin, Jolene Jacquart, Matthew A Scult, Lauren Slipp, Eric Isaac Kagan Riklin, Veronique Lepoutre, Nicole Comosa, Beth-Ann Norton, Allison Dassatti, Jessica Rosenblum, Andrea H Thurler, Brian C Surjanhata, Nicole N Hasheminejad, Leslee Kagan, Ellen Slawsby, Sowmya R Rao, Eric A Macklin, Gregory L Fricchione, Herbert Benson, Towia A Libermann, Joshua Korzenik, John W Denninger
[This corrects the article DOI: 10.1371/journal.pone.0123861.].
2017: PloS One
https://www.readbyqxmd.com/read/28194389/elastic-suture-shoelace-technique-for-fasciotomy-closure-after-treatment-of-compartmental-syndrome-associated-to-tibial-fracture
#2
Paulo Sergio Martins Castelo Branco, Mauricio Cardoso Junior, Isaac Rotbande, José Antonio Fraga Ciraudo, Celso Ricardo Correa de Melo Silva, Paulo Cesar Dos Santos Leal
This article reports the use of elastic suture as an adjuvant in surgical wound closure caused by decompressive fasciotomy after compartment syndrome associated with a compound fracture of the tibia. Widely used in other medico-surgical specialties, this technique is unusual in orthopedics surgery, but the simplicity of the procedure and the successful outcome observed in this case allows for its consideration as indicated for situations similar to that presented in this study.
January 2017: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/28193298/does-drug-induced-sleep-endoscopy-change-the-surgical-decision-in-surgically-na%C3%A3-ve-non-syndromic-children-with-snoring-sleep-disordered-breathing-from-the-standard-adenotonsillectomy-a-retrospective-cohort-study
#3
Malak Jamal Gazzaz, André Isaac, Scott Anderson, Noura Alsufyani, Yaser Alrajhi, Hamdy El-Hakim
BACKGROUND: Adenotonsillectomy is the most commonly performed operation for pediatric snoring/sleep disordered breathing (S/SDB). However, 20-40% of patients will fail to improve. Drug-induced sleep endoscopy (DISE) may provide a more individualized surgical plan and limit unsuccessful surgeries. The aim of this study was to assess the impact of DISE on surgical decision-making in surgically naïve children with S/SDB. METHODS: A retrospective observational cohort study was undertaken at the Stollery Children's Hospital...
February 13, 2017: Journal of Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28192585/correlations-of-objective-metrics-for-quantifying-dysfunctional-lens-syndrome-with-visual-acuity-and-phacodynamics
#4
Fernando Faria-Correia, Isaac Ramos, Bernardo Lopes, Tiago Monteiro, Nuno Franqueira, Renato Ambrósio
PURPOSE: To study the relationship between objective metrics for quantifying crystalline lens dysfunction with visual impairment and phacodynamics parameters in age-related nuclear cataracts. METHODS: A total of 51 eyes (34 patients) with age-related nuclear cataract had phacoemulsification. The Dysfunctional Lens Index (0 to 10 points) was measured by a ray-tracing aberrometry (iTrace Visual Function Analyzer; Tracey Technologies, Houston, TX). The average lens density (0 to 100) was evaluated using a rotating Scheimpflug system (Pentacam HR; Oculus Optikgeräte GmbH, Wetzlar, Germany), and the nuclear opalescence score was subjectively assessed using the Lens Opacities Classification System III (LOCS III)...
February 1, 2017: Journal of Refractive Surgery
https://www.readbyqxmd.com/read/28115629/a-novel-role-for-transcription-coupled-nucleotide-excision-repair-for-the-in-vivo-repair-of-3-n4-ethenocytosine
#5
Isaac A Chaim, Alycia Gardner, Jie Wu, Teruaki Iyama, David M Wilson, Leona D Samson
Etheno (ε) DNA base adducts are highly mutagenic lesions produced endogenously via reactions with lipid peroxidation (LPO) products. Cancer-promoting conditions, such as inflammation, can induce persistent oxidative stress and increased LPO, resulting in the accumulation of ε-adducts in different tissues. Using a recently described fluorescence multiplexed host cell reactivation assay, we show that a plasmid reporter bearing a site-specific 3,N(4)-ethenocytosine (εC) causes transcriptional blockage. Notably, this blockage is exacerbated in Cockayne Syndrome and xeroderma pigmentosum patient-derived lymphoblastoid and fibroblast cells...
January 23, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28092684/biallelic-mutations-in-the-3-exonuclease-toe1-cause-pontocerebellar-hypoplasia-and-uncover-a-role-in-snrna-processing
#6
Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, Maha S Zaki, Stephanie Grainger, Shashank Sathe, Eric L Van Nostrand, Zinayida Schlachetzki, Basak Rosti, Naiara Akizu, Eric Scott, Jennifer L Silhavy, Laura Dean Heckman, Rasim Ozgur Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez-Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Tim L Shaw, Sebastian Markmiller, Isaac Marin-Valencia, Justin H Davies, Linda de Meirleir, Hulya Kayserili, Umut Altunoglu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blaser, Ahmet Okay Çağlayan, Kaya Bilguvar, Huseyin Per, Christina Fagerberg, Henrik T Christesen, Maria Kibaek, Kimberly A Aldinger, David Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B Dobyns, Neil C Chi, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B Gabriel, Murat Gunel, Enza Maria Valente, Marie-Cecile Nassogne, Eric J Bennett, Gene W Yeo, Frank Baas, Jens Lykke-Andersen, Joseph G Gleeson
Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg(2+)-dependent 3'-end RNases with substrate specificity that is mostly unknown. Pontocerebellar hypoplasia type 7 (PCH7) is a unique recessive syndrome characterized by neurodegeneration and ambiguous genitalia. We studied 12 human families with PCH7, uncovering biallelic, loss-of-function mutations in TOE1, which encodes an unconventional deadenylase...
January 16, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28087011/acute-aortic-syndrome-in-autosomal-dominant-polycystic-kidney-disease
#7
Ioannis Dimarakis, Isaac Kadir
No abstract text is available yet for this article.
February 2017: Kidney International
https://www.readbyqxmd.com/read/27998308/semilobar-holoprosencephaly-in-a-12-month-old-baby-boy-born-to-a-primigravida-patient-with-type-1-diabetes-mellitus-a-case-report
#8
Pedro Pallangyo, Frederick Lyimo, Paulina Nicholaus, Hilda Makungu, Maria Mtolera, Isaac Mawenya
BACKGROUND: Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the associated high rates of spontaneous abortion the incidence is 1:16,000 among live deliveries. Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations...
December 20, 2016: Journal of Medical Case Reports
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
#9
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...
February 2017: 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
#10
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...
January 6, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/27867916/impact-of-human-immunodeficiency-virus-in-the-pathogenesis-and-outcome-of-patients-with-glioblastoma-multiforme
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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...
March 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27667487/-voltage-gated-potassium-channel-complex-antibodies-associated-encephalopathy-and-related-diseases
#18
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
#19
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
#20
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
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