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ARC syndrome

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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
#1
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
#2
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
#3
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
#4
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-fistulas-and-foix-alajouanine-syndrome-evaluation-of-functional-scores-with-review-of-pathogenesis
#5
Carlito Lagman, Lawrance K Chung, Rohan V Chitale, Isaac Yang
OBJECTIVE: To evaluate the use of functional scores as predictors of symptom outcomes in patients with dural arteriovenous fistulas (dAVF) and Foix-Alajouanine syndrome. METHODS: The literature was systematically surveyed to identify 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. Subgroup analyses were performed for the comparison of surgery versus embolization and for patients with symptom duration less than 6 months...
June 30, 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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28606559/adiponectin-at-physiological-level-glucose-independently-enhances-inhibitory-postsynaptic-current-onto-npy-neurons-in-the-hypothalamic-arcuate-nucleus
#10
Shigetomo Suyama, Wang Lei, Naoto Kubota, Takashi Kadowaki, Toshihiko Yada
Adiponectin regulates glucose and lipid metabolism, acting against atherosclerosis and metabolic syndrome. Accumulating evidences suggest that adiponectin acts on the brain including the arcuate nucleus of hypothalamus (ARC). The ARC contains orexigenic neuropeptide Y (NPY)/agouti related peptide (AgRP) neurons and anorexigenic proopiomelanocortin (POMC) neurons, the first order neurons for feeding regulation. We recently reported that intracerebroventricular injection of adiponectin at low glucose level suppressed food intake, while at elevated glucose level it promoted food intake, exhibiting glucose-dependent reciprocal effects...
March 22, 2017: Neuropeptides
https://www.readbyqxmd.com/read/28544027/a-novel-vps33b-mutation-in-a-patient-with-arthrogryposis-renal-dysfunction-cholestasis-syndrome
#11
Amanda T Moon, Theresa Christensen, Jenna L Streicher, Leslie Castelo-Soccio
We report a case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome in a girl with a novel VPS33B mutation. To our knowledge, this is the first reported case of ARC syndrome in the United States.
May 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28534226/the-diagnostic-value-of-a-modified-neer-test-in-identifying-subacromial-impingement-syndrome
#12
Yu Guosheng, Ren Chongxi, Cui Guoqing, Xu Junling, Ji Hailong
BACKGROUND: Subacromial impingement syndrome (SAIS) is characterized by pain experienced through an arc of elevation as the shoulder abducts and diagnosed commonly by Neer test (NT). However, the diagnostic accuracy of NT for SAIS is still limited. Here, a modified Neer test (MNT) was introduced to improve the accuracy of the clinical examination in diagnosing SAIS and differentiating it from frozen shoulder. The aim of this study was to investigate the diagnostic values of MNT in diagnosing SAIS and differentiating it from frozen shoulder...
May 22, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28521888/clinical-significance-of-lipid-rich-plaque%C3%A2-detected-by-optical-coherence%C3%A2-tomography-a%C3%A2-4-year-follow-up-study
#13
MULTICENTER STUDY
Lei Xing, Takumi Higuma, Zhao Wang, Aaron D Aguirre, Kyoichi Mizuno, Masamichi Takano, Harold L Dauerman, Seung-Jung Park, Yangsoo Jang, Chong-Jin Kim, Soo-Joong Kim, So-Yeon Choi, Tomonori Itoh, Shiro Uemura, Harry Lowe, Darren L Walters, Peter Barlis, Stephen Lee, Amir Lerman, Catalin Toma, Jack Wei Chieh Tan, Erika Yamamoto, Krzysztof Bryniarski, Jiannan Dai, Thomas Zanchin, Shaosong Zhang, Bo Yu, Hang Lee, James Fujimoto, Valentin Fuster, Ik-Kyung Jang
BACKGROUND: Lipid-rich plaque (LRP) is thought to be a precursor to cardiac events. However, its clinical significance in coronary arteries has never been systematically investigated. OBJECTIVES: This study investigated the prevalence and clinical significance of LRP in the nonculprit region of the target vessel in patients undergoing percutaneous coronary intervention (PCI). METHODS: The study included 1,474 patients from 20 sites across 6 countries undergoing PCI, who had optical coherence tomography (OCT) imaging of the target vessel...
May 23, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28419877/effect-of-foot-orthoses-on-the-medial-longitudinal-arch-in-children-with-flexible-flatfoot-deformity-a-three-dimensional-moment-analysis
#14
Amir Ali Jafarnezhadgero, Morteza Madadi Shad, Mahdi Majlesi
Foot orthoses are often used to correct altered gait patterns. The purpose of this study was to investigate how foot orthoses can modify the magnitude of three dimensional moments of ankle, knee, and hip joints during a stride of gait in children with flexible flat feet. Bilateral gait data were collected from fourteen male children (age 10.2±1.4 years) suffering from flat feet syndrome. In order to obtain the kinematics data, a Vicon system with six cameras (100Hz) was used and two Kistler force plates (1000Hz) to record the kinetics data under each leg...
April 7, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28416395/the-early-history-of-manganese-and-the-recognition-of-its-neurotoxicity-1837-1936
#15
Paul D Blanc
The history of the biomedical recognition manganese-caused neurotoxicity mirrors changing technologies as much as it does the ontology of parkinsonism. The initial 1837 report of manganese-induced neurologic injury was made by John Couper, a university-based physician in Scotland. He made clear that the outbreak occurred among workers at the Charles Tennant bleach manufactory in the environs of Glasgow. The relatively new technology of chlorine generation using manganese accounted for the novel exposure involved...
April 14, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28278134/limited-open-quadriceps-release-for-treatment-of-congenital-dislocation-of-the-knee
#16
Ahmed Omar Youssef
BACKGROUND: Congenital dislocation of the knee (CDK) is a rare condition for which the treatment is difficult and remains controversial. The aim of this case series is to evaluate the results of limited open quadriceps release for treatment of CDK. METHODS: Sixteen patients with CDK were managed at our institute from May 2006 to May 2014, and included 10 boys and 6 girls, with a mean age at presentation of 5 weeks (range, 1 to16 wk). Three patients who had an underlying neuromuscular syndrome were excluded...
April 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28277466/early-results-of-surgical-management-of-camptodactyly
#17
Brady T Evans, Peter M Waters, Donald S Bae
BACKGROUND: We hypothesize that surgery for moderate-to-severe camptodactyly (>50 degrees) results in modest gains in range of motion and improved digital position. METHODS: A retrospective analysis of patients undergoing surgery for camptodactyly at a tertiary children's hospital between 2000 and 2014 was performed. Surgery was indicated for patients with persistent, functionally limiting flexion contractures despite observation, therapy, and splinting. Data were collected on demographics, clinical history and presentation, nonoperative management, surgery, and clinical follow-up, focusing on range of motion at the involved joint...
July 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28277061/%C3%AE-granule-biogenesis-from-disease-to-discovery
#18
REVIEW
Chang Hua Chen, Richard W Lo, Denisa Urban, Fred G Pluthero, Walter H A Kahr
Platelets are critical to hemostasis and thrombosis. Upon detecting injury, platelets show a range of responses including the release of protein cargo from α-granules. This cargo is synthesized by platelet precursor megakaryocytes or endocytosed by megakaryocytes and/or platelets. Insights into α-granule biogenesis have come from studies of hereditary conditions where these granules are immature, deficient or absent. Studies of Arthrogryposis, Renal dysfunction, and Cholestasis (ARC) syndrome identified the first proteins essential to α-granule biogenesis: VPS33B and VPS16B...
March 2017: Platelets
https://www.readbyqxmd.com/read/28217086/increased-sparsity-of-hippocampal-ca1-neuronal-ensembles-in-a-mouse-model-of-down-syndrome-assayed-by-arc-expression
#19
Constance L Smith-Hicks, Peiling Cai, Alena V Savonenko, Roger H Reeves, Paul F Worley
Down syndrome (DS) is the leading chromosomal cause of intellectual disability, yet the neural substrates of learning and memory deficits remain poorly understood. Here, we interrogate neural networks linked to learning and memory in a well-characterized model of DS, the Ts65Dn mouse. We report that Ts65Dn mice exhibit exploratory behavior that is not different from littermate wild-type (WT) controls yet behavioral activation of Arc mRNA transcription in pyramidal neurons of the CA1 region of the hippocampus is altered in Ts65Dn mice...
2017: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/28167591/the-arc-of-human-immunodeficiency-virus-capacity-development-insights-from-a-decade-of-partnership-for-medical-education-in-zambia
#20
Cassidy W Claassen, Lottie Hachaambwa, Dorcas Phiri, Douglas C Watson, Devang Patel, Christopher M Bositis, Amy Bositis, Deus Mubangizi, Robert Redfield, Peter Mwaba, Robb Sheneberger
AbstractZambia and other sub-Saharan nations suffer from a critical shortage of trained health-care professionals to combat the human immunodeficiency virus/acquired immunodeficiency syndrome crisis. The University of Maryland and the Zambian Ministry of Health have partnered over the past decade to develop health-care capacity among physicians, nurses, and community health workers. We describe novel interventions to train health-care workers at all levels and argue that our collaboration represents a successful model for such partnerships between western medical institutions and African governmental health agencies...
May 2017: American Journal of Tropical Medicine and Hygiene
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