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Isaacs syndrome

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https://www.readbyqxmd.com/read/28529006/validation-of-a-next-generation-sequencing-pipeline-for-the-molecular-diagnosis-of-multiple-inherited-cancer-predisposing-syndromes
#1
Paula Paulo, Pedro Pinto, Ana Peixoto, Catarina Santos, Carla Pinto, Patrícia Rocha, Isabel Veiga, Gabriela Soares, Catarina Machado, Fabiana Ramos, Manuel R Teixeira
Despite the growing knowledge of the genetic background behind the cancers that occur in a context of hereditary predisposition, personal or family cancer history may not be clear enough to support directional gene testing. Defined targeted next-generation sequencing gene panels allow identification of the causative disease mutations of multigene syndromes and differential diagnosis for syndromes with phenotypically overlapping characteristics. Herein, we established a next-generation sequencing analysis pipeline for the molecular diagnosis of multiple inherited cancer predisposing syndromes using the commercially available target sequencing panel TruSight Cancer...
May 18, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28521179/biological-predictors-of-insulin-resistance-associated-with-posttraumatic-stress-disorder-in-young-military-veterans
#2
Esther M Blessing, Victor Reus, Synthia H Mellon, Owen M Wolkowitz, Janine D Flory, Linda Bierer, Daniel Lindqvist, Firdaus Dhabhar, Meng Li, Meng Qian, Duna Abu-Amara, Isaac Galatzer-Levy, Rachel Yehuda, Charles R Marmar
Posttraumatic stress disorder (PTSD) is associated with increased risk for Type 2 diabetes and cardiovascular disease (cardiometabolic disease), warranting research into targeted prevention strategies. In the present case-control study of 160 young (mean age 32.7 years) male military veterans, we aimed to assess whether PTSD status predicted increased markers of cardiometabolic risk in otherwise healthy individuals, and further, to explore biological pathways between PTSD and these increased markers of cardiometabolic risk...
May 1, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28484680/superior-semicircular-canal-dehiscence-in-a-patient-with-ehlers-danlos-syndrome-a-case-report
#3
Lawrance K Chung, Carlito Lagman, Daniel T Nagasawa, Quinton Gopen, Isaac Yang
Superior semicircular canal dehiscence (SSCD) is a bony defect in the middle cranial fossa floor that results in an abnormal connection between the inner ear and cranial vault. Although the etiology of SSCD remains unclear, an inappropriately thin or fragile temporal bone likely predisposes an individual towards developing SSCD. Ehlers-Danlos syndrome (EDS) constitutes a group of genetic connective tissue disorders caused by a defect in the production, processing, or structure of collagen, or its associated proteins...
April 6, 2017: Curēus
https://www.readbyqxmd.com/read/28462913/a-clinicopathologic-evaluation-of-incidental-fundic-gland-polyps-with-dysplasia-implications-for-clinical-management
#4
Isaac E Lloyd, Wendy K Kohlmann, Keith Gligorich, Amy Hall, Elaine Lyon, Erinn Downs-Kelly, Wade S Samowitz, Mary P Bronner
OBJECTIVES: Fundic gland polyps (FGPs) can rarely exhibit dysplasia of the surface epithelium. Based on retrospective data, FGPs with dysplasia (FGPDs) are thought to be a strong marker for familial adenomatous polyposis (FAP), although sporadic, non-syndromic FGPDs also occur. Owing to the significant syndromic association, diagnosis of an apparently sporadic FGPD may prompt clinical evaluation for FAP, especially its attenuated variant. We sought to evaluate the positive predictive value of incidental FGPDs for FAP...
May 2, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28451480/rare-complications-of-cervical-spine-surgery-horner-s-syndrome
#5
Vincent C Traynelis, Hani R Malone, Zachary A Smith, Wellington K Hsu, Adam S Kanter, Sheeraz A Qureshi, Samuel K Cho, Evan O Baird, Robert E Isaacs, Ra'Kerry K Rahman, Galina Polevaya, Justin S Smith, Christopher Shaffrey, P Justin Tortolani, D Alex Stroh, Paul M Arnold, Michael G Fehlings, Thomas E Mroz, K Daniel Riew
STUDY DESIGN: A multicenter retrospective case series. OBJECTIVE: Horner's syndrome is a known complication of anterior cervical spinal surgery, but it is rarely encountered in clinical practice. To better understand the incidence, risks, and neurologic outcomes associated with Horner's syndrome, a multicenter study was performed to review a large collective experience with this rare complication. METHODS: We conducted a retrospective multicenter case series study involving 21 high-volume surgical centers from the AOSpine North America Clinical Research Network...
April 2017: Global Spine Journal
https://www.readbyqxmd.com/read/28444183/calcium-dysregulation-and-cdk5-atm-pathway-involved-in-a-mouse-model-of-fragile-x-associated-tremor-ataxia-syndrome
#6
Gaëlle Robin, José R López, Glenda M Espinal, Susan Hulsizer, Paul J Hagerman, Isaac N Pessah
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting with early alterations in neuronal network formation and function that precede neurodegeneration. Whether intranuclear inclusions containing DNA damage response (DDR) proteins, are causally linked to abnormal synaptic function, neuronal growth and survival are unknown. In a mouse that harbors a premutation CGG expansion (preCGG), cortical and hippocampal FMRP expression is moderately reduced from birth through adulthood, with greater FMRP reductions in the soma than in the neurite, despite several-fold elevation of Fmr1 mRNA levels...
April 21, 2017: Human Molecular Genetics
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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...
June 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
#16
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 antiretroviral therapy (ART) containing either zidovudine or tenofovir disoproxil. METHODS: Cross-sectional survey in 10 facilities in Lesotho among 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
#17
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
#18
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
#19
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
#20
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
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