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https://www.readbyqxmd.com/read/29775120/successful-improvement-of-pain-symptomatology-in-a-suspected-case-of-cramp-fasciculation-syndrome-via-interventional-pain-treatment
#1
Anita Gupta, Lucas First, Celeste A Swain
Peripheral nerve hyperexcitability (PNH) syndromes are a rare set of neuromuscular disorders that include cramp-fasciculation syndrome (CFS) and Isaacs syndrome (IS). Successful treatment of these diseases has been achieved with antiepileptic medications; however, chronic pain symptoms can persist. We provide a case report of a 25-year-old female who has suffered from painful severe muscle spasms and fasciculations since childhood. With CFS as our working diagnosis, a treatment regimen using interventional pain techniques, including sympathetic chain blocks, ketamine infusions, and trigger point injections, resulted in a significant decrease in the patient's chronic pain symptoms...
May 18, 2018: Journal of Pain & Palliative Care Pharmacotherapy
https://www.readbyqxmd.com/read/29773431/preoperative-frailty-assessment-predicts-loss-of-independence-after-vascular-surgery
#2
Graham W Donald, Amir A Ghaffarian, Farid Isaac, Larry W Kraiss, Claire L Griffin, Brigitte K Smith, Mark R Sarfati, Julie L Beckstrom, Benjamin S Brooke
OBJECTIVE: Frailty, a clinical syndrome associated with loss of metabolic reserves, is prevalent among patients who present to vascular surgery clinics for evaluation. The Clinical Frailty Scale (CFS) is a rapid assessment method shown to be highly specific for identifying frail patients. In this study, we sought to evaluate whether the preoperative CFS score could be used to predict loss of independence after major vascular procedures. METHODS: We identified all patients living independently at home who were prospectively assessed using the CFS before undergoing an elective major vascular surgery procedure (admitted for >24 hours) at an academic medical center between December 2015 and December 2017...
May 14, 2018: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29735513/a-unifying-theory-for-cognitive-abnormalities-in-functional-neurological-disorders-fibromyalgia-and-chronic-fatigue-syndrome-systematic-review
#3
REVIEW
Tiago Teodoro, Mark J Edwards, Jeremy D Isaacs
BACKGROUND: Functional cognitive disorder (FCD) describes cognitive dysfunction in the absence of an organic cause. It is increasingly prevalent in healthcare settings yet its key neuropsychological features have not been reported in large patient cohorts. We hypothesised that cognitive profiles in fibromyalgia (FM), chronic fatigue syndrome (CFS) and functional neurological disorders (FNDs) would provide a template for characterising FCD. METHODS: We conducted a systematic review of studies with cognition-related outcomes in FM, CFS and FND...
May 7, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29734990/exosomal-cargo-properties-endothelial-function-and-treatment-of-obesity-hypoventilation-syndrome-a-proof-of-concept-study
#4
Rakesh Bhattacharjee, Abdelnaby Khalyfa, Ahamed A Khalyfa, Babak Mokhlesi, Leila Kheirandish-Gozal, Isaac Almendros, Eduard Peris, Atul Malhotra, David Gozal
STUDY OBJECTIVES: Longitudinal studies support the usage of positive airway pressure (PAP) therapy in treating obstructive sleep apnea (OSA) to improve cardiovascular disease. However, the anticipated benefit is not ubiquitous. In this study, we elucidate whether PAP therapy leads to immediate improvements on endothelial function, a subclinical marker of cardiovascular status, by examining the effect of circulating exosomes, isolated from patients before and after PAP therapy, on naive endothelial cells...
April 30, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29723293/elevated-androstenedione-in-young-adult-but-not-early-adolescent-prenatally-androgenized-female-rats
#5
Ami B Shah, Isaac Nivar, Diana L Speelman
BACKGROUND: Elevated testosterone (T) is routinely reported as a marker of hyperandrogenemia in rodent models for polycystic ovary syndrome (PCOS). In women with PCOS, elevated serum androstenedione (A4) is associated with more severe phenotypes, including a positive correlation with serum T, DHEAS, free androgen index (FAI), LH, and LH/FSH ratio. Furthermore, A4, along with calculated free T and FAI, was identified as one of the best predictors of PCOS in adult women of all ages (18 to > 50 y)...
2018: PloS One
https://www.readbyqxmd.com/read/29709933/repetitive-discharge-in-a-case-of-isaacs-syndrome-with-burning-sensation
#6
Masanori Kurihara, Izumi Sugimoto, Yuki Hatanaka, Yasuhisa Sakurai
No abstract text is available yet for this article.
April 27, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29643172/the-syndromic-deafness-mutation-g12r-impairs-fast-and-slow-gating-in-cx26-hemichannels
#7
Isaac E García, Felipe Villanelo, Gustavo F Contreras, Amaury Pupo, Bernardo I Pinto, Jorge E Contreras, Tomás Pérez-Acle, Osvaldo Alvarez, Ramon Latorre, Agustín D Martínez, Carlos González
Mutations in connexin 26 (Cx26) hemichannels can lead to syndromic deafness that affects the cochlea and skin. These mutations lead to gain-of-function hemichannel phenotypes by unknown molecular mechanisms. In this study, we investigate the biophysical properties of the syndromic mutant Cx26G12R (G12R). Unlike wild-type Cx26, G12R macroscopic hemichannel currents do not saturate upon depolarization, and deactivation is faster during hyperpolarization, suggesting that these channels have impaired fast and slow gating...
April 11, 2018: Journal of General Physiology
https://www.readbyqxmd.com/read/29620980/management-of-lower-limb-amputations
#8
Alifa Isaacs-Itua, Imad Sedki
The most common reason for lower limb amputations in the UK is peripheral arterial disease. A thoughtful approach to surgery, with consideration of optimal amputation level and residual limb shape, can improve prosthetic use and functional outcomes. Prosthesis socket design and fit, as well as use of appropriate components, must be considered in accordance with the patient's activity level and potential. Major developments in prosthetics over the past 20 years, particularly in the area of joint design, including microprocessor knees, have increased options to improve ambulation...
April 2, 2018: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/29616624/invasive-strategy-and-frailty-in-very-elderly-patients-with-acute-coronary-syndromes
#9
Isaac Llaó, Albert Ariza-Solé, Juan Sanchis, Oriol Alegre, Ramon López-Palop, Francesc Formiga, Francisco Marín, María T Vidán, Manuel Martínez-Sellés, Alessandro Sionis, Miguel Vives-Borrás, Joan Antoni Gómez-Hospital, Josep Gómez-Lara, Gerard Roura, Pablo Díez-Villanueva, Iván Núñez-Gil, Jaume Maristany, Lluis Asmarats, Héctor Bueno, Emad Abu-Assi, Àngel Cequier
AIMS: Current guidelines recommend an early invasive strategy in patients with non-ST segment elevation acute coronary syndromes (NSTEACS). The role of an invasive strategy in frail elderly patients remains controversial. METHODS AND RESULTS: The LONGEVO-SCA registry included unselected NSTEACS patients aged ≥80 years. A geriatric assessment was performed during hospitalization, including frailty. We evaluated the impact of an invasive strategy during the admission on the incidence of cardiac death, reinfarction or new revascularisation at 6-months...
April 3, 2018: EuroIntervention
https://www.readbyqxmd.com/read/29581140/transmission-of-a-tp53-germline-mutation-from-unaffected-male-carrier-associated-with-pediatric-glioblastoma-in-his-child-and-gestational-choriocarcinoma-in-his-female-partner
#10
Jennifer A Cotter, Linda Szymanski, Catherine Karimov, Lara Boghossian, Ashley Margol, Girish Dhall, Benita Tamrazi, G Isaac Varaprasathan, David M Parham, Alexander R Judkins, Jaclyn A Biegel
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by germline alterations in the tumor suppressor gene TP53. LFS is associated with numerous malignancies including astrocytoma. Sanger sequencing and chromosomal microarray studies of blood and tumor tissue from a 4-year-old boy with glioblastoma demonstrated a germline TP53 mutation with loss of heterozygosity for the short arm of chromosome 17 as the second inactivating event in the tumor. There was no family history of LFS, but the child's mother had recently died from metastatic choriocarcinoma after antecedent normal term delivery of a then 6-month-old daughter...
March 26, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29482547/is-there-a-c-reactive-protein-value-beyond-which-one-should-consider-infection-as-the-cause-of-acute-heart-failure
#11
Joana Pereira, Ana Ribeiro, João Ferreira-Coimbra, Isaac Barroso, João-Tiago Guimarães, Paulo Bettencourt, Patrícia Lourenço
BACKGROUND: Heart Failure (HF) is a low grade inflammatory condition. High sensitivity C-reactive protein (hsCRP) is an established marker of inflammation. A cut-off value of hsCRP beyond which an infection should be sought has never been studied in HF. We aimed to determine the best hsCRP cut-off for infection prediction in acute HF. METHODS: We analyzed patients included in an acute HF registry - EDIFICA (Estratificação de Doentes com InsuFIciência Cardíaca Aguda)...
February 27, 2018: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29460957/mosaicism-of-de-novo-pathogenic-scn1a-variants-in-epilepsy-is-a-frequent-phenomenon-that-correlates-with-variable-phenotypes
#12
Iris M de Lange, Marco J Koudijs, Ruben van 't Slot, Boudewijn Gunning, Anja C M Sonsma, Lisette J J M van Gemert, Flip Mulder, Ellen C Carbo, Marjan J A van Kempen, Nienke E Verbeek, Isaac J Nijman, Robert F Ernst, Sanne M C Savelberg, Nine V A M Knoers, Eva H Brilstra, Bobby P C Koeleman
OBJECTIVE: Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases. The most important determinant of disease severity is the type of variant, with variants that cause a complete loss of function of the SCN1A protein (α-subunit of the neuronal sodium channel Nav1.1) being detected almost exclusively in Dravet syndrome patients. However, even within Dravet syndrome disease severity ranges greatly, and consequently other disease modifiers must exist...
March 2018: Epilepsia
https://www.readbyqxmd.com/read/29437513/cleft-lip-and-palate-in-charge-syndrome-phenotypic-features-that-influence-management
#13
Kathryn V Isaac, Ingrid M Ganske, Stephen A Rottgers, So Young Lim, John B Mulliken
OBJECTIVE: Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. DESIGN: This is a retrospective review from 1998 to 2016. PATIENTS: Patients with CHARGE syndrome were diagnosed clinically and genetically...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29377322/shared-and-distinct-alterations-of-white-matter-tracts-in-remitted-and-nonremitted-patients-with-schizophrenia
#14
Jing-Ying Huang, Chih-Min Liu, Tzung-Jeng Hwang, Yu-Jen Chen, Yung-Chin Hsu, Hai-Gwo Hwu, Yi-Tin Lin, Ming-Hsien Hsieh, Chen-Chung Liu, Yi-Ling Chien, Wen-Yih Isaac Tseng
Patients with schizophrenia do not usually achieve remission state even after adequate antipsychotics treatment. Previous studies found significant difference in white matter integrity between patients with good outcomes and those with poor outcomes, but difference is still unclear at individual tract level. This study aimed to use a systematic approach to identify the tracts that were associated with remission state in patients with schizophrenia. We evaluated 91 patients with schizophrenia (remitted, 50; nonremitted, 41) and 50 healthy controls through diffusion spectrum imaging...
May 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29370420/c3-glomerulonephritis-secondary-to-mutations-in-factors-h-and-i-rapid-recurrence-in-deceased-donor-kidney-transplant-effectively-treated-with-eculizumab
#15
Neetika Garg, Yuzhou Zhang, Anne Nicholson-Weller, Eliyahu V Khankin, Nicolò Ghiringhelli Borsa, Nicole C Meyer, Susan McDermott, Isaac E Stillman, Helmut G Rennke, Richard J Smith, Martha Pavlakis
Background: C3 glomerulonephritis (C3GN) is caused by alternate complement pathway over-activation. It frequently progresses to end-stage renal disease, recurs in two-thirds of transplants and in half of these cases progresses to allograft loss. There is currently no proven treatment for C3GN. Case Presentation: We describe a family segregating pathogenic alleles of complement factor H and I (CFH and CFI). The only member carrying both mutations developed C3GN. Prolonged delayed graft function after deceased donor transplantation, heavy proteinuria and isolated C3 hypocomplementemia prompted an allograft biopsy confirming diagnosis of recurrent C3GN...
January 23, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29353275/endocrine-and-metabolic-disturbances-in-survivors-of-hematopoietic-stem-cell-transplantation-in-childhood-and-adolescence
#16
Shlomit Shalitin, Lihi Pertman, Michal Yackobovitch-Gavan, Isaac Yaniv, Yael Lebenthal, Moshe Phillip, Jerry Stein
BACKGROUND/AIMS: The objective was to evaluate endocrine complications in survivors of hematopoietic stem cell transplantation (HSCT) performed during childhood. METHODS: Endocrine dysfunction and metabolic syndrome parameters were assessed by chart review of 178 childhood HSCT survivors (median age at evaluation, 15.5 [range: 3.8-29.8] years; median follow-up, 8.5 [range: 2-23.4] years). RESULTS: The following statistically significant associations were identified (p < 0...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29316848/integrated-wearable-and-self-carrying-active-upper-limb-orthosis
#17
Roberto Merchant, David Cruz-Ortiz, Mariana Ballesteros-Escamilla, Isaac Chairez
The aim of this study was to develop a prototype of an orthotic system that can be used as a support tool in the rehabilitation of the upper limb. The construction of this device was motivated by the increasing number of subjects suffering from full or partial loss of the upper limb function as a consequence of spinal cord injuries, strokes, occupational syndromes and sports injuries. The majority of procedures used in upper limb rehabilitation consist of repetitive movements enforced by physiotherapists; a robotic device executing the same tasks seems to be a plausible solution if the orthosis can be programmed and controlled automatically...
February 2018: Proceedings of the Institution of Mechanical Engineers. Part H, Journal of Engineering in Medicine
https://www.readbyqxmd.com/read/29236593/role-of-genetic-testing-for-inherited-prostate-cancer-risk-philadelphia-prostate-cancer-consensus-conference-2017
#18
Veda N Giri, Karen E Knudsen, William K Kelly, Wassim Abida, Gerald L Andriole, Chris H Bangma, Justin E Bekelman, Mitchell C Benson, Amie Blanco, Arthur Burnett, William J Catalona, Kathleen A Cooney, Matthew Cooperberg, David E Crawford, Robert B Den, Adam P Dicker, Scott Eggener, Neil Fleshner, Matthew L Freedman, Freddie C Hamdy, Jean Hoffman-Censits, Mark D Hurwitz, Colette Hyatt, William B Isaacs, Christopher J Kane, Philip Kantoff, R Jeffrey Karnes, Lawrence I Karsh, Eric A Klein, Daniel W Lin, Kevin R Loughlin, Grace Lu-Yao, S Bruce Malkowicz, Mark J Mann, James R Mark, Peter A McCue, Martin M Miner, Todd Morgan, Judd W Moul, Ronald E Myers, Sarah M Nielsen, Elias Obeid, Christian P Pavlovich, Stephen C Peiper, David F Penson, Daniel Petrylak, Curtis A Pettaway, Robert Pilarski, Peter A Pinto, Wendy Poage, Ganesh V Raj, Timothy R Rebbeck, Mark E Robson, Matt T Rosenberg, Howard Sandler, Oliver Sartor, Edward Schaeffer, Gordon F Schwartz, Mark S Shahin, Neal D Shore, Brian Shuch, Howard R Soule, Scott A Tomlins, Edouard J Trabulsi, Robert Uzzo, Donald J Vander Griend, Patrick C Walsh, Carol J Weil, Richard Wender, Leonard G Gomella
Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results Consensus was strong that patients should engage in shared decision making for genetic testing...
December 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29223372/diagnostic-and-prognostic-plasma-biomarkers-for-idiopathic-pneumonia-syndrome-after-hematopoietic-cell-transplantation
#19
Sachiko Seo, Jeffrey Yu, Isaac C Jenkins, Wendy M Leisenring, Terry Steven-Ayers, Jane M Kuypers, Meei-Li Huang, Keith R Jerome, Michael Boeckh, Sophie Paczesny
Idiopathic pneumonia syndrome (IPS) is a noninfectious pulmonary complication after hematopoietic cell transplantation (HCT) and is difficult to diagnose. In 41 patients with IPS, we evaluated 6 candidate proteins in plasma samples at day 7 post-HCT and at onset of IPS to identify potential diagnostic or prognostic biomarkers for IPS. Samples at similar times from 162 HCT recipients without documented infections and 37 HCT recipients with respiratory viral pneumonia served as controls. In multivariable models, a combination of Stimulation-2 (ST2; odds ratio [OR], 2...
April 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29160545/benign-familial-fleck-retina-multimodal-imaging-including-optical-coherence-tomography-angiography
#20
Jose Mauricio Botto de Barros Garcia, David Leonardo Cruvinel Isaac, Tainara Sardeiro, Érika Aquino, Marcos Avila
This report presents multimodal imaging of a 27-year-old woman diagnosed with benign familial fleck retina (OMIM 228980), an uncommon disorder. Fundus photographs revealed retinal flecks that affected her post-equatorial retina but spared the macular area. Fundus autofluorescence and infrared imaging demonstrated a symmetrical pattern of yellow-white fleck lesions that affected both eyes. Her full-field electroretinogram and electrooculogram were normal. An optical coherence tomography B-scan was performed for both eyes, revealing increased thickness of the retinal pigmented epithelium leading to multiple small pigmented epithelium detachments...
September 2017: Arquivos Brasileiros de Oftalmologia
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