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ARC syndrome

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https://www.readbyqxmd.com/read/29568764/correlation-of-serum-uric-acid-levels-with-nonculprit-plaque-instability-in-patients-with-acute-coronary-syndromes-a-3-vessel-optical-coherence-tomography-study
#1
Donghui Zhang, Ruoxi Zhang, Ning Wang, Lin Lin, Bo Yu
Elevated serum uric acid (SUA) level is known to be a prognostic factor in patients with acute coronary syndrome (ACS). However, the correlation between SUA level and coronary plaque instability has not been fully evaluated. The aim of this study was to investigate the association between SUA level and plaque instability of nonculprit lesions in patients with ACS using optical coherence tomography. A total of 150 patients with ACS who underwent 3-vessel optical coherence tomography were selected. Patients were classified into 3 groups according to tertiles of SUA level...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29561315/a-degenerative-form-of-mixed-transcortical-aphasia
#2
Leila Saadatpour, Usama Tariq, Alicia Parker, Leilani Doty, Kenneth M Heilman
Mixed transcortical aphasia (MTA) is characterized by decreased spontaneous speech, impaired naming, and poor comprehension, but with intact repetition. MTA has been reported to be the sequela of left hemisphere watershed infarction that isolates Wernicke's perisylvian arc. We report a 55-year-old right-handed woman who began having word-finding difficulty and then gradually developed impaired spontaneous speech, comprehension, and naming, but with intact repetition. Magnetic resonance imaging showed atrophy in the left frontal, parietal, and temporal lobes...
March 2018: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/29483835/loss-of-p21-promoted-tumorigenesis-in-the-background-of-telomere-dysfunctions-induced-by-trf2-and-wrn-deficiency
#3
Xiaoyu Si, Chihao Shao, Jing Li, Shuting Jia, Wenru Tang, Jihong Zhang, Julun Yang, Xiaoming Wu, Ying Luo
Werner syndrome (WS) is a rare autosomal recessive progeria disease with genetic instability/cancer predisposition, thus a good model in understanding aging related carcinogenesis. Telomere dysfunction induced cellular senescence is essential in the manifestation of the WS phenotype. Our previous data has shown that p21 (encoded by Cdkn1a gene) could induce cellular senescence and suppress cellular growth of ALT (alternative lengthening of telomere) tumors derived from WS, suggested that p21 might play a key role in maintaining senescence of WS cells...
2018: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29423307/the-importance-of-the-bulbocavernosus-reflex
#4
REVIEW
Jean Gabriel Previnaire
The BCR consists of the contraction of the bulbocavernosus muscle in response to squeezing the glans penis or clitoris, and is mediated through the pudendal nerve. In case of a complete lesion, the presence of BCR is indicative of intact S2-S4 spinal reflex arcs and loss of supraspinal inhibition, determining an upper motor neuron (UMN) lesion, its absence a lower motor neuron (LMN) lesion. The BCR further helps distinguish conus medullaris from cauda equina syndromes. Sensory or motor function in the most caudal sacral segments, not BCR, defines the sacral sparing as part of the International Standards for Neurological Classification of Spinal Cord Injury (ISNCSCI)...
2018: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/29409756/vps33b-and-vipar-are-essential-for-epidermal-lamellar-body-biogenesis-and-function
#5
Clare Rogerson, Paul Gissen
Mutations in VPS33B and VIPAS39 cause the severe multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome. Amongst other symptoms, patients with ARC syndrome suffer from severe ichthyosis. Roles for VPS33B and VIPAR have been reported in lysosome-related organelle biogenesis, integrin recycling, collagen homeostasis and maintenance of cell polarity. Mouse knockouts of Vps33b or Vipas39 are good models of ARC syndrome and develop an ichthyotic phenotype. We demonstrate that the skin manifestations in Vps33b and Vipar deficient mice are histologically similar to those of patients with ARC syndrome...
May 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29383277/perilunate-dislocations-and-perilunate-fracture-dislocations-in-the-u-s-military
#6
John C Dunn, Logan R Koehler, Nicholas A Kusnezov, Elizabeth Polfer, Justin D Orr, Miguel A Pirela-Cruz, Justin S Mitchell
Background  Perilunate dislocations and perilunate fracture dislocations (PLDs/PLFDs) are rare and often associated with poor outcomes. Heretofore, these outcomes have not been evaluated in a high-demand military population. Questions/Purpose  The purpose of this study was to evaluate the outcomes in a young, active population after sustaining PLD/PLFD injuries. Patients and Methods  We retrospectively reviewed the U.S. military service members who underwent surgical treatment for a PLD/PLFD (Current Procedural Terminology codes 25695 and 25685) between June 1, 2010, and June 1, 2014 through the Military Health System Management Analysis and Reporting Tool (M2) database, capturing patients with a minimum 2-year follow-up...
February 2018: Journal of Wrist Surgery
https://www.readbyqxmd.com/read/29363642/anterior-subcutaneous-transposition-of-the-ulnar-nerve-affects-elbow-range-of-motion-a-mean-13-5-years-of-follow-up
#7
Xing-Hua Liu, Mao-Qi Gong, Yang Wang, Chang Liu, Shao-Liang Li, Xie-Yuan Jiang
BACKGROUND: Surgical decompression of the ulnar nerve is effective for cubital tunnel syndrome. However, deep approaches may result in iatrogenic elbow stiffness. This long-term study was to evaluate the range of motion (ROM) of the elbow and functional outcomes after anterior subcutaneous transposition. METHODS: A total of 115 patients (78 male and 37 female; mean age: 46.6 years) who underwent anterior subcutaneous transposition of the ulnar nerve between 2001 and 2005 were evaluated retrospectively; mean follow-up was 13...
February 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29317055/scapholunate-interosseous-ligament-dysfunction-as-a-source-of-elbow-pain-syndromes-possible-mechanisms-and-implications-for-hand-surgeons-and-therapists
#8
Cigdem Ayhan, Seval Tanrıkulu, Gursel Leblebicioglu
Elbow pain syndromes are common upper extremity musculoskeletal disorders, and they are usually associated with repetitive occupational exposure. Ligaments are often one of the sources of musculoskeletal disorders because of their mechanical and neurological properties. The wrist ligaments are some of the ligaments most vulnerable to occupational exposure. Since most occupational tasks require wrist extension for handling tools and loading, the scapholunate interosseous ligament (SLIL) bears greater strain during loading, which results in creep deformation and hysteresis...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29299949/hiv-aids-related-hyponatremia-an-old-but-still-serious-problem
#9
Zhanjun Shu, Zimeng Tian, Jinglin Chen, Jianping Ma, Aihemaiti Abudureyimu, Qianqian Qian, Li Zhuo
Hyponatremia is the most common electrolyte disorder in hospitals. Many medical illnesses, including congestive heart failure, liver failure, renal failure and pneumonia, may be associated with hyponatremia. In addition, hyponatremia in patients with the acquired immunodeficiency syndrome (AIDS) and AIDS-related complex (ARC) was first reported in 1993. The evidence suggests that severe hyponatremia is associated with increased morbidity and mortality in human immunodeficiency virus (HIV)/AIDS patients; however, the incidence of hyponatremic syndrome in HIV/AIDS patients remains very high in clinical practice, as almost 40% of HIV/AIDS inpatients in Xinjiang, a developing region of China, are hyponatremic...
November 2018: Renal Failure
https://www.readbyqxmd.com/read/29223473/-cryptogenic-west-syndrome-clinical-profile-response-to-treatment-and-prognostic-factors
#10
María Calderón Romero, Elena Arce Portillo, Mercedes López Lobato, Beatriz Muñoz Cabello, Bárbara Blanco Martínez, Marcos Madruga Garrido, Olga Alonso Luego
INTRODUCTION: West syndrome (WS) is an age-dependent epileptic encephalopathy in which the prognosis varies according to the, not always identified, underlying origin. OBJECTIVES: To define the profile of cryptogenic (a least studied isolated sub-group) WS, in Spain. To study its outcome, response to different treatments, and to establish prognostic factors. PATIENTS AND METHODS: The study included a review of the medical records of 16 patients diagnosed with cryptogenic WS during the period, 2000-2015...
December 6, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29162813/chemogenomic-analysis-reveals-key-role-for-lysine-acetylation-in-regulating-arc-stability
#11
Jasmin Lalonde, Surya A Reis, Sudhir Sivakumaran, Carl S Holland, Hendrik Wesseling, John F Sauld, Begum Alural, Wen-Ning Zhao, Judith A Steen, Stephen J Haggarty
The role of Arc in synaptic plasticity and memory consolidation has been investigated for many years with recent evidence that defects in the expression or activity of this immediate-early gene may also contribute to the pathophysiology of brain disorders including schizophrenia and fragile X syndrome. These results bring forward the concept that reversing Arc abnormalities could provide an avenue to improve cognitive or neurological impairments in different disease contexts, but how to achieve this therapeutic objective has remained elusive...
November 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/29118715/differential-regulation-of-thyroid-hormone-metabolism-target-genes-during-non-thyoidal-illness-syndrome-triggered-by-fasting-or-sepsis-in-adult-mice
#12
Klaus N Fontes, Adriana Cabanelas, Flavia F Bloise, Cherley Borba Vieira de Andrade, Luana L Souza, Marianna Wilieman, Isis H Trevenzoli, Lais C Agra, Johnatas D Silva, Christianne Bandeira-Melo, Pedro L Silva, Patricia R M Rocco, Tania M Ortiga-Carvalho
Fasting and sepsis induce profound changes in thyroid hormone (TH) central and peripheral metabolism. These changes affect TH action and are called the non-thyroidal illness syndrome (NTIS). To date, it is still debated whether NTIS represents an adaptive response or a real hypothyroid state at the tissue level. Moreover, even though it has been considered the same syndrome, we hypothesized that fasting and sepsis induce a distinct set of changes in thyroid hormone metabolism. Herein, we aimed to evaluate the central and peripheral expression of genes involved in the transport (MCT8/ Slc16a2 and MCT10/ Slc16a10 ), metabolism ( Dio1, Dio2 , and Dio3 ) and action ( Thra and Thrb ) of TH during NTIS induced by fasting or sepsis...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29111827/prism-under-cover-test-in-alternate-fixation-horizontal-strabismus
#13
Jaime Tejedor, Francisco José Gutiérrez-Carmona
PURPOSE: To evaluate the applicability of the prism under cover test (PUCT) to quantify manifest deviation in horizontal strabismus with alternate fixation when simultaneous prism and cover test (SPCT) is not feasible. METHODS: Children aged 4-11 years, with alternate fixation horizontal strabismus and alternate prism and cover test (APCT) distance deviation (DD) up to 25 PD were eligible. In group 1 of the study, SPCT was not feasible (n = 18), whereas in group 2, it was feasible (n = 24)...
February 2018: Current Eye Research
https://www.readbyqxmd.com/read/29069077/functional-convergence-of-histone-methyltransferases-ehmt1-and-kmt2c-involved-in-intellectual-disability-and-autism-spectrum-disorder
#14
Tom S Koemans, Tjitske Kleefstra, Melissa C Chubak, Max H Stone, Margot R F Reijnders, Sonja de Munnik, Marjolein H Willemsen, Michaela Fenckova, Connie T R M Stumpel, Levinus A Bok, Margarita Sifuentes Saenz, Kyna A Byerly, Linda B Baughn, Alexander P A Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M Kramer
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. In addition to EHMT1 mutations, de novo variants were reported in four additional genes (MBD5, SMARCB1, NR1I3, and KMT2C), in single individuals with clinical characteristics overlapping Kleefstra syndrome. Here, we present a novel cohort of five patients with de novo loss of function mutations affecting the histone methyltransferase KMT2C...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29046204/-clinical-features-and-vps33b-mutations-in-a-family-affected-by-arthrogryposis-renal-dysfunction-and-cholestasis-syndrome
#15
Da-Gui Huang, Jia-Jia Liu, Li Guo, Yuan-Zong Song
Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B or VIPAS39 gene. The aim of this study was to investigate the clinical features and VPS33B gene mutations of an infant with ARC syndrome. A 47-day-old female infant was referred to the hospital with the complaint of jaundiced skin and sclera for 45 days and abnormal liver function for 39 days. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined diagnosis...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28991327/-delusional-parasitosis-intestinal-and-dermatological-clinical-cases
#16
Edith Pérez de Arce, Daniela Rosset, Mario Arcos, Douglas Castillo, Carlos Gil, Caroll Beltrán, Luis Carlos Gil
Illusory parasitosis, better known as delusional parasitosis, is a neuropsychiatric syndrome in which patients have the belief of suffering a parasitic disease, that can not be demonstrated after an exhaustive medical study. These patients are characterized by being polyconsultants in different medical specialties and, many of them, have antecedents of psychiatric disorders, some of them undiagnosed. Knowing the existence of the clinical picture, diagnosing early and empathizing with the patient, could give to clinician some clues for a timely and assertive psychiatric referral, and improve patient adherence to the proposed treatment...
June 2017: Revista Chilena de Infectología: órgano Oficial de la Sociedad Chilena de Infectología
https://www.readbyqxmd.com/read/28944252/anconeus-muscle-pedicle-bone-graft-with-periosteal-coverage-for-osteochondritis-dissecans-of-the-humeral-capitellum
#17
Kozo Shimada, Ko Temporin, Keiichiro Oura, Hiroyuki Tanaka, Ryosuke Noguchi
BACKGROUND: Treatment of advanced osteochondritis dissecans (OCD) of the capitellum is controversial, especially in moderate-sized lesions. PURPOSE: To establish a treatment algorithm for capitellum OCD, we tried to determine the utility of and problems associated with anconeus muscle-pedicle bone graft with periosteal coverage (ABGP) for the treatment of moderate-sized articular OCD defects of the capitellum. STUDY DESIGN: Case series; Level of evidence, 4...
September 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28936957/-pk-pd-of-vancomycin-in-patients-with-severe-acute-pancreatitis-combined-with-augmented-renal-clearance
#18
Juan He, Enqiang Mao, Feng Jing, Huiting Jiang, Wenyun Xu, Wanhua Yang, Erzhen Chen
OBJECTIVE: To evaluate the serum trough concentration and the pharmacokinetics/pharmacodynamics (PK/PD) of vancomycin in patients with severe acute pancreatitis (SAP), and analyze the effect of vancomycin continuous infusion for optimizing the characteristics of its PK/PD. METHODS: The inhospital patients with SAP received vancomycin treatment and admitted to emergency intensive care unit (EICU) of Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine from January 2011 to December 2016 were enrolled...
September 2017: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/28932286/pilot-report-non-operative-treatment-of-mayo-type-ii-olecranon-fractures-in-any-age-adult-patient
#19
Matthew D Putnam, Christy M Christophersen, Julie E Adams
BACKGROUND: We report on the non-operative treatment of Mayo Type II olecranon fractures. METHODS: Fourteen isolated Mayo Type II olecranon fractures were treated non-operatively, followed to discharge, and retrospectively reviewed. Treatment was splinting in extension followed by protected active motion beginning 3 weeks to 4 weeks post-injury. Mayo Elbow Performance Index (MEPI) and Shortened Disabilities of the Arm, Shoulder and Hand (QuickDASH) scores were available in 86% and 64% of cases, respectively...
October 2017: Shoulder & Elbow
https://www.readbyqxmd.com/read/28928382/functional-effects-of-proinflammatory-factors-present-in-sj%C3%A3-gren-s-syndrome-salivary-microenvironment-in-an-in-vitro-model-of-human-salivary-gland
#20
Mayte Arce-Franco, María Dominguez-Luis, Martina K Pec, Carlos Martínez-Gimeno, Pablo Miranda, Diego Alvarez de la Rosa, Teresa Giraldez, José María García-Verdugo, José David Machado, Federico Díaz-González
Primary Sjögren's syndrome (pSS) is an autoimmune exocrinopathy in which the role that the immune response plays in reducing exocrine gland function, including the glandular microenvironment of cytokines, has not been fully understood. Epithelial cells from biopsies of human parotid gland (HPG) were used to establish a model of human salivary gland in vitro. In this model, the functional consequences of several proinflammatory soluble factors present in the pSS glandular microenvironment were assessed. Stimulation with isoproterenol and calcium produced a significant increase in the basal activity of amylase in the HPG cell supernatants...
September 19, 2017: Scientific Reports
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