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Isaacs syndrome

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https://www.readbyqxmd.com/read/28441279/congenital-etiology-is-an-independent-risk-factor-for-complications-in-adolescents-undergoing-corrective-scoliosis-surgery-comparison-of-in-hospital-comorbidities-using-nationwide-kid-s-inpatient-database
#1
Gregory W Poorman, Cyrus M Jalai, Bassel Diebo, Shaleen Vira, John Buza, Joe Baker, Jared Tishelman, Samantha Horn, Olivia Bono, Kartik Shenoy, Saqib Hasan, Justin Paul, Evan Isaacs, Ian Kaye, Abiola Atanda, Aaron J Buckland, Virginie LaFage, Thomas Errico, Peter G Passias
BACKGROUND: Congenital scoliosis (CS) is associated with more rigid, complex deformities relative to adolescent idiopathic scoliosis (AIS) which theoretically increases surgical complications. Despite extensive literature studying AIS patients, few studies have been performed on CS patients. The purpose of this study was to evaluate complications associated with spinal fusions for CS and AIS. METHODS: A retrospective review of the Kid's Inpatient Database (KID) years 2000 to 2009 was performed...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28440686/severe-ovarian-hyperstimulation-syndrome-after-combined-gnrh-agonist-and-low-dose-human-chorionic-gonadotropin-trigger-in-a-patient-with-a-single-kidney
#2
Nigel Pereira, Jovana P Lekovich, Isaac Kligman, Zev Rosenwaks
Ovarian hyperstimulation syndrome (OHSS) following gonadotropin-releasing hormone agonist (GnRH-a) trigger is rare. Here, we report a case of severe OHSS after combined GnRH-a and low-dose human chorionic gonadotropin (hCG) trigger in a patient with a single kidney. The patient is a 32-year-old women with a two-year history of infertility. The patient's history was significant for a single kidney, that is, she had donated a kidney to a family member three years ago. The patient underwent controlled ovarian stimulation (COS) for in vitro fertilization (IVF) and received a combined 2 mg GnRH-a and 1500 IU hCG ovulatory trigger...
April 25, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28438465/isaacs-syndrome-with-caspr2-antibody-a-series-of-three-cases
#3
Jie Song, Sisi Jing, Chao Quan, Jun Lu, Xiangyang Qiao, Kai Qiao, Jiahong Lu, Jianying Xi, Chongbo Zhao
Isaacs syndrome is a form of peripheral nerve hyperexcitability, characterized by spontaneous muscle twitching and stiffness. Some patients are reported to be positive for CASPR2 antibody that may be one of the pathogenic autoantibodies in Isaacs syndrome. We reported a series of three patients with Isaacs syndrome, including their clinical features, electrophysiologic findings, laboratory parameters and therapeutic responses. All the three patients were positive for CASPR2 antibodies examined on transfected human embryonic kidney 293 cells by indirect immunofluorescence method...
April 21, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28437498/superior-mesenteric-artery-syndrome-as-a-complication-of-scoliosis-surgery
#4
Philip K Louie, Bryce A Basques, Adam Bitterman, Shalin Shah, Kishan Patel, Isaac Abramchayev, Jonathan Lewin
Superior mesenteric artery (SMA) syndrome is a rare and potentially life-threatening complication of scoliosis surgery. The anatomical relationship of the duodenum and the superior mesenteric artery, the correction of angular deformity of the spine, and the normal adolescent growth spurt all contribute to the condition. We report the case of a 14-year-old boy who had a history of idiopathic scoliosis and presented with bilious vomiting that had persisted for 7 days after posterior T9-L4 fusion with instrumentation...
March 2017: American Journal of Orthopedics
https://www.readbyqxmd.com/read/28429606/parent-and-patient-perceptions-of-functional-impairment-due-to-tourette-syndrome-development-of-a-shortened-version-of-the-child-tourette-syndrome-impairment-scale
#5
Kara S Francis Barfell, Ryan R Snyder, Kelly M Isaacs-Cloes, Jordan F Garris, Alyssa R Roeckner, Paul S Horn, Michael D Guthrie, Steve W Wu, Donald L Gilbert
The Child Tourette Syndrome Impairment Scale (CTIM) rates 37 problems in school, social, and home domains separately for tics and for comorbid diagnoses. However, a shorter version would be easier to implement in busy clinics. Using published data from 85 children with Tourette syndrome, 92 controls, and parents, factor analysis was used to generate a "mini-CTIM" composed of 12 items applied to tic and comorbid diagnoses. Child- and parent-rated mini-CTIM scores were compared and correlated across raters and accounting for clinician-rated tic severity and presence of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD)...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28417553/calcineurin-inhibitor-free-strategies-for-prophylaxis-and-treatment-of-gvhd-in-children-with-posterior-reversible-encephalopathy-syndrome-after-stem-cell-transplantation
#6
Vered Shkalim-Zemer, Osnat Konen, Yoel Levinsky, Orli Michaeli, Anat Yahel, Aviva Krauss, Isaac Yaniv, Jerry Stein
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is a distinct clinico-radiologic entity that can occur following allogeneic hematopoietic stem cell transplantation, often in the context of treatment with calcineurin inhibitors (CNIs). PROCEDURE: We describe the results of CNI-free management of 14 children with PRES and review the clinical and radiologic manifestations of their presentation. RESULTS: Discontinuation of CNIs usually resulted in remission of PRES, but patients with established graft versus host disease (GVHD) at the time when treatment was changed often experienced progressive GVHD despite administration of immune suppressive and modulating treatments...
April 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28406856/treating-women-who-are-pregnant-and-parenting-for-opioid-use-disorder-and-the-concurrent-care-of-their-infants-and-children-literature-review-to-support-national-guidance
#7
Stacey L Klaman, Krystyna Isaacs, Anne Leopold, Joseph Perpich, Susan Hayashi, Jeff Vender, Melinda Campopiano, Hendrée E Jones
OBJECTIVES: The prevalence of opioid use disorder (OUD) during pregnancy is increasing. Practical recommendations will help providers treat pregnant women with OUD and reduce potentially negative health consequences for mother, fetus, and child. This article summarizes the literature review conducted using the RAND/University of California, Los Angeles Appropriateness Method project completed by the US Department of Health and Human Services Substance Abuse and Mental Health Services Administration to obtain current evidence on treatment approaches for pregnant and parenting women with OUD and their infants and children...
April 13, 2017: Journal of Addiction Medicine
https://www.readbyqxmd.com/read/28365191/-thymoma-and-autoimmune-diseases
#8
Y Jamilloux, H Frih, C Bernard, C Broussolle, P Petiot, N Girard, P Sève
The association between thymoma and autoimmunity is well known. Besides myasthenia gravis, which is found in 15 to 20% of patients with thymoma, other autoimmune diseases have been reported: erythroblastopenia, systemic lupus erythematosus, inflammatory myopathies, thyroid disorders, Isaac's syndrome or Good's syndrome. More anecdotally, Morvan's syndrome, limbic encephalitis, other autoimmune cytopenias, autoimmune hepatitis, and bullous skin diseases (pemphigus, lichen) have been reported. Autoimmune diseases occur most often before thymectomy, but they can be discovered at the time of surgery or later...
March 29, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28361262/the-interrelationship-of-metabolic-syndrome-and-neurodegenerative-diseases-with-focus-on-brain-derived-neurotrophic-factor-bdnf-kill-two-birds-with-one-stone
#9
REVIEW
Shima Motamedi, Isaac Karimi, Fariba Jafari
The brain-derived neurotrophic factor (BDNF) is involved in metabolic syndrome (MetS) and neurodegenerative diseases (NDD) like Alzheimer's disease, Huntington's disease, Parkinson's disease and depression. If one factor plays an essential role in the pathogenesis of two diseases, it can be concluded that there might be a common root in these two diseases, as well. This review was aimed to highlight the crucial roles of BDNF in the pathogenesis of MetS and NDD and to introduce sole prophylactic or therapeutic applications, BDNF gene therapy and BDFN administration, in controlling MetS and NDD...
March 30, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28342180/metabolic-syndrome-in-patients-on-first-line-antiretroviral-therapy-containing-zidovudine-or-tenofovir-in-rural-lesotho-southern-africa
#10
Niklaus Daniel Labhardt, Urs Franz Müller, Isaac Ringera, Jochen Ehmer, Mokete M Motlatsi, Karolin Pfeiffer, Michael A Hobbins, Josephine A Muhairwe, Juergen Muser, Christoph Hatz
OBJECTIVE: To assess the prevalence of metabolic syndrome (MetS) among patients in rural Lesotho who are taking first-line anti-retroviral therapy (ART) containing either zidovudine or tenofovir disoproxil. METHODS: Cross-sectional survey in 10 facilities in two districts in Lesotho of adult (≥16 years) patients on non-nucleoside reverse transcriptase inhibitor (NNRTI)-based first-line ART for ≥6 months. MetS was defined according to the International Diabetes Federation criteria...
March 25, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28329220/prolonged-exposures-to-intermittent-hypoxia-promote-visceral-white-adipose-tissue-inflammation-in-a-murine-model-of-severe-sleep-apnea-effect-of-normoxic-recovery
#11
Alex Gileles-Hillel, Isaac Almendros, Abdelnaby Khalyfa, Recep Nigdelioglu, Zhuanhong Qiao, Robert B Hamanaka, Gökhan M Mutlu, Mahzad Akbarpour, David Gozal
Study Objective: Increased visceral white adipose tissue (vWAT) mass results in infiltration of inflammatory macrophages that drive inflammation and insulin resistance. Patients with obstructive sleep apnea (OSA) suffer from increased prevalence of obesity, insulin resistance, and metabolic syndrome. Murine models of intermittent hypoxia (IH) mimicking moderate-severe OSA manifest insulin resistance following short-term IH. We examined in mice the effect of long-term IH on the inflammatory cellular changes within vWAT and the potential effect of normoxic recovery (IH-R)...
March 1, 2017: Sleep
https://www.readbyqxmd.com/read/28276569/ccr5-cd8-t-cell-levels-and-monocyte-activation-precede-the-onset-of-acute-coronary-syndrome-in-hiv-infected-patients-on-antiretroviral-therapy
#12
Laura Tarancon-Diez, Rebeca S De Pablo-Bernal, Ana I Álvarez-Rios, Isaac Rosado-Sánchez, Beatriz Dominguez-Molina, Miguel Genebat, Yolanda M Pacheco, José Luis Jiménez, M Ángeles Muñoz-Fernández, Ezequiel Ruiz-Mateos, Manuel Leal
Acute coronary syndrome (ACS) is nowadays one of the leading causes of morbid-mortality in HIV-infected population, but innate and adaptive immune mechanisms preceding this event are unknown. In this work we comprehensively and longitudinally observed, by multiparametric flow cytometry and following a case-control design, increased CCR5(+)CD8(+) T-cells levels and monocytes expressing activation and adhesion markers in HIV-infected patients who are going to suffer ACS. In addition, we found direct associations between activated CD8(+) T-cells and myeloid cells that were only statistically significant in the group of patients with ACS and in the follow up time point just before the ACS...
March 9, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28245243/serelaxin-as-a-potential-treatment-for-renal-dysfunction-in-cirrhosis-preclinical-evaluation-and-results-of-a-randomized-phase-2-trial
#13
Victoria K Snowdon, Neil J Lachlan, Anna M Hoy, Patrick W F Hadoke, Scott I Semple, Dilip Patel, Will Mungall, Timothy J Kendall, Adrian Thomson, Ross J Lennen, Maurits A Jansen, Carmel M Moran, Antonella Pellicoro, Prakash Ramachandran, Isaac Shaw, Rebecca L Aucott, Thomas Severin, Rajnish Saini, Judy Pak, Denise Yates, Neelesh Dongre, Jeremy S Duffield, David J Webb, John P Iredale, Peter C Hayes, Jonathan A Fallowfield
BACKGROUND: Chronic liver scarring from any cause leads to cirrhosis, portal hypertension, and a progressive decline in renal blood flow and renal function. Extreme renal vasoconstriction characterizes hepatorenal syndrome, a functional and potentially reversible form of acute kidney injury in patients with advanced cirrhosis, but current therapy with systemic vasoconstrictors is ineffective in a substantial proportion of patients and is limited by ischemic adverse events. Serelaxin (recombinant human relaxin-2) is a peptide molecule with anti-fibrotic and vasoprotective properties that binds to relaxin family peptide receptor-1 (RXFP1) and has been shown to increase renal perfusion in healthy human volunteers...
February 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28241332/osteopathic-manipulative-treatment-in-the-management-of-isaacs-syndrome
#14
Lisa K T Shanahan, Selena G M Raines, Rachel L Coggins, Teanna Moore, Michael Carnes, Laura Griffin
Isaacs syndrome is a rare neuromuscular disorder characterized by chronic muscle stiffness, cramping, fasciculations, myokymia, and hyperhidrosis. Pathogenesis includes autoimmunity, paraneoplastic disorders, genetic predisposition, or toxin exposure. There is no known cure for Isaacs syndrome. This case report describes a patient who had been given the diagnosis of Isaacs syndrome and received osteopathic manipulative treatment to manage fascial and cranial dysfunctions and reduce nervous system hyperexcitability...
March 1, 2017: Journal of the American Osteopathic Association
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
#15
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
#16
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
#17
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
#18
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
#19
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,N4-ethenocytosine (εC) causes transcriptional blockage. Notably, this blockage is exacerbated in Cockayne Syndrome and xeroderma pigmentosum patient-derived lymphoblastoid and fibroblast cells...
April 7, 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
#20
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...
March 2017: Nature Genetics
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