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ARC syndrome

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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
#1
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
#2
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)...
November 7, 2017: 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28875319/kisspeptin-expression-features-in-the-arcuate-and-anteroventral-periventricular-nuclei-of-hypothalamus-of-letrozole-induced-polycystic-ovarian-syndrome-in-rats
#10
Elham Aliabadi, Mohammad Reza Namavar, Keywan Mortezaee, Heidar Toolee, Sara Keshtgar, Hossein Mirkhani, Mohammad Akbari, Tayebeh Rastegar, Somayeh Solhjoo
PURPOSE: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of the reproductive system characterized by polycystic ovaries and androgen excess. Letrozole is a nonsteroidal aromatase inhibitor that is used in experimental research to induce PCOS. Kisspeptin is an essential protein in regulation of cyclicity. Kisspeptin receptor is expressed in the hypothalamus and pituitary glands, and kisspeptin containing neurons are affected from sex steroid hormones. We aimed to investigate the number of kisspeptin-positive cells in the arcuate (Arc) and anteroventral periventricular nuclei (AVPV) of hypothalamus in the letrozole-induced PCOS...
November 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28844478/-descriptive-and-comparative-study-of-cardiovascular-risk-factors-and-physical-activity-in-patients-with-acute-coronary-syndrome
#11
Maria Isabel Vazquez-Arce, Elena Marques-Sule
AIM: To analyse several cardiovascular risk factors by means of the physical activity performed by patients with acute coronary syndrome (ACS). DESIGN: Cross-sectional study. LOCATION: Cardiovascular prevention service (Health Department, Valencia, Spain). PARTICIPANTS: The study included 401 individuals with acute coronary syndrome and discharged from hospital 2-3months before the assessment. The inclusion criteria included age between 30 and 80years-old, no contraindication for physical activity, and no previous participation in cardiac rehabilitation programmes...
August 22, 2017: Atencion Primaria
https://www.readbyqxmd.com/read/28804447/activity-dependent-arc-expression-and-homeostatic-synaptic-plasticity-are-altered-in-neurons-from-a-mouse-model-of-angelman-syndrome
#12
Elissa D Pastuzyn, Jason D Shepherd
Angelman syndrome (AS) is a neurodevelopmental disorder that results from deletions or mutations in chromosome 15, which usually includes the UBE3A gene. Ube3A protein is an E3 ubiquitin ligase that ubiquitinates proteins and targets them for degradation. The immediate-early gene Arc, a master regulator of synaptic plasticity, was identified as a putative substrate of Ube3A, but there have been conflicting reports on whether Arc is a bona fide E3 ligase substrate. Using multiple approaches, we found no evidence for a physical interaction between Arc and Ube3A in vivo...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28797410/prevalence-predictors-and-clinical-presentation-of-a-calcified-nodule-as-assessed-by-optical-coherence-tomography
#13
Tetsumin Lee, Gary S Mintz, Mitsuaki Matsumura, Wenbin Zhang, Yang Cao, Eisuke Usui, Yoshihisa Kanaji, Tadashi Murai, Taishi Yonetsu, Tsunekazu Kakuta, Akiko Maehara
OBJECTIVES: This study sought to determine the anatomic characteristics and clinical presentation associated with a calcified nodule (CN) as assessed by optical coherence tomography. BACKGROUND: CN is an unusual but demonstrable cause of acute coronary syndromes (ACS). METHODS: We studied 889 de novo culprit lesions in 889 patients (48% ACS) who underwent optical coherence tomography before intervention. CN was defined as an eruptive accumulation of nodular calcification (small fractured calcifications)...
August 2017: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28754394/a-potentially-lethal-dysfunction-of-a-subcutaneous-implantable-cardiac-defibrillator-the-phantom-menace
#14
Mihaela Calcaianu, Didier Bresson, Jacques Lévy
In this article we describe, to our knowledge, the first case of a potentially lethal dysfunction of a subcutaneous implantable cardioverter-defibrillator (S-ICD). A 70-year-old patient underwent primary S-ICD implantation. Nine months after, communication could not be established with the device. Chest radiography revealed that the lead had moved and wrapped around the generator. After equipment extraction, we observed the lead wound around the sagittal axis of the generator. A burn mark with melted metal was found inside the generator...
August 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28690381/polymorphism-of-the-pai-1gene-4g-5g-may-be-linked-with-polycystic-ovary-syndrome-and-associated-pregnancy-disorders-in-south-indian-women
#15
Maniraja Jesintha Mary, Lakshmanan Saravanan, Munuswamy Deecaraman, Melantharu Vijayalakshmi, Vetrivel Umashankar, Jaigopal Sailaja
Polycystic Ovary syndrome (PCOS) is the most common endocrine disorder affecting 5 - 10% of all women of reproductive age group. The present research was carried out to study the impact of Plasminogen Activator Inhibitor (PAI-1) 4G/5G polymorphism (rs1799889) in PCOS, and the risk of developing PCOS in South Indian Population. The study was carried out in 60 subjects of South Indian population (30 PCOS and 30 Non PCOS) recruited from ARC Research and Fertility Centre, Chennai, India. Genotype and Allelic frequencies were compared by Fisher exact test, Hardy Weinberg equilibrium...
2017: Bioinformation
https://www.readbyqxmd.com/read/28673891/dural-arteriovenous-fistula-and-foix-alajouanine-syndrome-assessment-of-functional-scores-with-review-of-pathogenesis
#16
Carlito Lagman, Lawrance K Chung, Rohan V Chitale, Isaac Yang
OBJECTIVE: To assess the use of functional scores in the evaluation of patients with dural arteriovenous fistula and Foix-Alajouanine syndrome. METHODS: We systematically surveyed the literature to identify relevant patients. Aminoff-Logue Scale (ALS) and modified Rankin Scale (mRS) scores were ascertained and combined to form a novel functional score, the Aminoff-Rankin Composite (ARC) score. We compared functional scores between surgery and embolization groups and ran one-sided point-biserial analyses to test our expectation that positive correlations exist between functional scores and treatment outcomes...
October 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28673240/association-of-platelet-to-lymphocyte-ratio-with-non-culprit-atherosclerotic-plaque-vulnerability-in-patients-with-acute-coronary-syndrome-an-optical-coherence-tomography-study
#17
Xuedong Wang, Zulong Xie, Xinxin Liu, Xingtao Huang, Jiale Lin, Dan Huang, Bo Yu, Jingbo Hou
BACKGROUND: The platelet to lymphocyte ratio (PLR), an indirect inflammatory biomarker, has been recently demonstrated to be associated with severity of coronary artery disease. In the present study, we sought to investigate whether PLR is associated with vulnerable plaque characteristics of non-culprit lesions in patients with acute coronary syndrome (ACS). METHODS: The patients in our study were divided into two groups (high PLR group and low PLR group). A total of 119 non-culprit plaques from 71 patients with ACS were assessed by optical coherence tomography (OCT)...
July 3, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28673238/report-of-an-unsual-case-of-anophthalmia-and-craniofacial-cleft-in-a-newborn-with-toxoplasma-gondii-congenital-infection
#18
Gabriel Emmanuel Arce-Estrada, Valeria Gómez-Toscano, Carlos Cedillo-Peláez, Ana Luisa Sesman-Bernal, Vanessa Bosch-Canto, José Luis Mayorga-Butrón, José Antonio Vargas-Villavicencio, Dolores Correa
BACKGROUND: We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only. CASE PRESENTATION: A two-month-old male had a twin in utero who disappeared between the 7(th) and the 14(th) week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood...
July 3, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28629996/production-of-medically-useful-nitric-monoxide-using-ac-arc-discharge
#19
S R Li, Y F Huang, Z Liu, M H Sui, J M Liu, K P Yan
Inhaled nitric monoxide (iNO) is increasingly used as a medical treatment for acute respiratory distress syndrome. A course of the existing nitric monoxide (NO) therapy with gas cylinders could cost up to approximately $15,000 for an average of 30.2 h. Moreover, a gas cylinder containing a mixture of N2 and NO may potentially leak NO. The objective of this study is to develop an efficient and cost-effective on-site iNO generation system. In the present setup, NO was generated by using dry air or mixed oxygen/nitrogen (O2/N2) and an AC power source with an output power level of 5-30 W at atmospheric pressure...
June 16, 2017: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/28607167/the-role-of-creb-srf-and-mef2-in-activity-dependent-neuronal-plasticity-in-the-visual-cortex
#20
Nisha S Pulimood, Wandilson Dos Santos Rodrigues, Devon A Atkinson, Sandra M Mooney, Alexandre E Medina
The transcription factors CREB (cAMP response element binding factor), SRF (serum response factor), and MEF2 (myocyte enhancer factor 2) play critical roles in the mechanisms underlying neuronal plasticity. However, the role of the activation of these transcription factors in the different components of plasticity in vivo is not well known. In this study, we tested the role of CREB, SRF, and MEF2 in ocular dominance plasticity (ODP), a paradigm of activity-dependent neuronal plasticity in the visual cortex...
July 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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