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https://www.readbyqxmd.com/read/28334965/photosensitive-epilepsy-is-associated-with-reduced-inhibition-of-alpha-rhythm-generating-networks
#1
Anna Elisabetta Vaudano, Andrea Ruggieri, Pietro Avanzini, Giuliana Gessaroli, Gaetano Cantalupo, Antonietta Coppola, Sanjay M Sisodiya, Stefano Meletti
Photosensitivity is a condition in which lights induce epileptiform activities. This abnormal electroencephalographic response has been associated with hyperexcitability of the visuo-motor system. Here, we evaluate if intrinsic dysfunction of this network is present in brain activity at rest, independently of any stimulus and of any paroxysmal electroencephalographic activity. To address this issue, we investigated the haemodynamic correlates of the spontaneous alpha rhythm, which is considered the hallmark of the brain resting state, in photosensitive patients and in people without photosensitivity...
February 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334874/efficient-cnv-breakpoint-analysis-reveals-unexpected-structural-complexity-and-correlation-of-dosage-sensitive-genes-with-clinical-severity-in-genomic-disorders
#2
Ling Zhang, Jingmin Wang, Cheng Zhang, Dongxiao Li, Claudia M B Carvalho, Haoran Ji, Jianqiu Xiao, Ye Wu, Weichen Zhou, Hongyan Wang, Li Jin, Yang Luo, Xiru Wu, James R Lupski, Feng Zhang, Yuwu Jiang
Genomic disorders are the clinical conditions manifested by submicroscopic genomic rearrangements including copy number variants (CNVs). The CNVs can be identified by array-based comparative genomic hybridization (aCGH), the most commonly used technology for molecular diagnostics of genomic disorders. However, clinical aCGH only informs CNVs in the probe interrogated regions. Neither orientational information nor the resulting genomic rearrangement structure is provided, which is a key to uncovering mutational and pathogenic mechanisms underlying genomic disorders...
March 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334784/testing-the-ret-and-sema3d-genetic-interaction-in-mouse-enteric-nervous-system-development
#3
Ashish Kapoor, Dallas R Auer, Dongwon Lee, Sumantra Chatterjee, Aravinda Chakravarti
For most multigenic disorders, clinical manifestation (penetrance) and presentation (expressivity) are likely to be an outcome of genetic interaction between multiple susceptibility genes. Here, using gene knockouts in mice we evaluated genetic interaction between loss of Ret and loss of Sema3d, two Hirschsprung disease susceptibility genes. We intercrossed Ret and Sema3d double null heterozygotes to generate mice with the nine possible genotypes and assessed survival by counting various genotypes, myenteric plexus presence by acetylcholinesterase staining and embryonic day 12...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334541/-autoantibodies-in-systemic-connective-tissue-disease-and-anca-associated-vasculitis-their-relationship-to-interstitial-lung-diseases-and-prognosis
#4
Martina Doubková, Jana Pokorná
Lung disease, including interstitial lung disease (ILD), is a frequent complication of systemic connective tissue disorders (CTD) and ANCA (anti-neutrophil cytoplasmic antibody) associated vasculitis (AAV). Pulmonary manifestations are prognostic factor of CTDs and vasculitis. Autoantibodies assessment is a part of differential diagnosis algorithm of lung diseases. Autoantibodies importance is mainly clinical-diagnostic. Using detection of some autoantibodies it is possible to determine prognosis of lung involvement, especially in CTDs...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28334496/seasonality-at-the-clinical-onset-of-type-1-diabetes-lessons-from-the-sweet-database
#5
A Gerasimidi Vazeou, O Kordonouri, M Witsch, J M Hermann, G Forsander, C de Beaufort, H J Veeze, C Maffeis, V Cherubini, O Cinek, B Piccini, R W Holl, T Danne
BACKGROUND: Seasonality at the clinical onset of type 1 diabetes (T1D) has been suggested by different studies, however, the results are conflicting. This study aimed to evaluate the presence of seasonality at clinical onset of T1D based on the SWEET database comprising data from 32 different countries. METHODS: The study cohort included 23 603 patients (52% males) recorded in the international multicenter SWEET database (48 centers), with T1D onset ≤20 years, year of onset between 1980 and 2015, gender, year and month of birth and T1D-diagnosis documented...
October 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/28334272/17%C3%AE-estradiol-induced-acsl4-protein-expression-promotes-an-invasive-phenotype-in-estrogen-receptor-positive-mammary-carcinoma-cells
#6
Anissa Belkaid, Rodney J Ouellette, Marc E Surette
Long chain acyl-CoA synthase-4 (ACSL4) expression has been associated with an aggressive phenotype in breast carcinoma cells, whereas its role in ERα-positive breast cancer has not been studied. ACSL4 prefers 20-carbon polyunsaturated fatty acid (PUFA) substrates, and along with other ACSLs has been associated with cellular uptake of exogenous fatty acids. 17β-estradiol induces proliferation and invasive capacities in ERα+ve breast carcinoma that is associated with modifications of cellular lipid metabolism...
March 10, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28334078/relationships-between-morphologic-and-functional-patterns-in-the-polymicrogyric-cortex
#7
Matteo Lenge, Carmen Barba, Domenico Montanaro, Gayane Aghakhanyan, Francesca Frijia, Renzo Guerrini
Polymicrogyria is a malformation of cortical folding and layering underlying different cognitive and neurological manifestations. The polymicrogyric cortex has heterogeneous morphofunctional patterns, qualitatively described at magnetic resonance imaging (MRI) by variable severity gradients and functional activations. We investigated the link between abnormal cortical folding and cortical function in order to improve surgical planning for patients with polymicrogyria and intractable epilepsy. We performed structural and functional MRI on 14 patients with perisylvian polymicrogyria and adopted surface-based methods to detect alterations of cortical thickness (CT) and local gyrification index (LGI) compared with normal cortex (30 age-matched subjects)...
February 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28333923/interdisciplinary-approach-at-the-primary-healthcare-level-for-bolivian-immigrants-with-chagas-disease-in-the-city-of-s%C3%A3-o-paulo
#8
Maria Aparecida Shikanai Yasuda, Camila Gonçalves Sátolo, Noemia Barbosa Carvalho, Magda Maya Atala, Rosario Quiroga Ferrufino, Ruth Moreira Leite, Célia Regina Furucho, Expedito Luna, Rubens Antonio Silva, Marcia Hage, Caroline Medeji Ramos de Oliveira, Felipe Delatorre Busser, Vera Lucia Teixeira de Freitas, Dalva Marli Valerio Wanderley, Luzia Martinelli, Sonia Regina Almeida, Pedro Albajar Viñas, Nivaldo Carneiro
BACKGROUND/METHODS: In a pioneering cross-sectional study among Bolivian immigrants in the city of São Paulo, Brazil, the epidemiological profile, clinical manifestations and morbidity of Chagas disease were described. The feasibility of the management of Chagas disease at primary healthcare clinics using a biomedical and psychosocial interdisciplinary approach was also tested. Previously, a Trypanosoma cruzi (T. cruzi) infection rate of 4.4% among 633 immigrants was reported. The samples were screened using two commercial enzyme-linked immunoassay (ELISA) tests generated with epimastigote antigens, and those with discrepant or seropositive results were analyzed by confirmatory tests: indirect immunofluorescence (IFI), TESA-blot and a commercial recombinant ELISA...
March 23, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28333903/-evaluation-of-oro-cecal-transit-time-in-patients-with-irritable-bowel-syndrome-with-cereal-products-intolerance
#9
Aleksandra Błońska, Paulina Konrad, Jan Chojnacki, Cezary Chojnacki
The main symptoms of irritable bowel syndrome (IBS) include abnormal frequency of bowel movements. On this basis, three main clinical types of the disease have been distinguished, i.e.: constipation (IBSC), diarrhea (IBS-D) and mixed-type (IBS-M) in accordance with the Rome III criteria. These disorders mainly affect the colon, but symptoms related to upper gastrointestinal tract are also often observed. AIM: The aim of the study was to assess the oro-caecal transit time in patients with irritable bowel syndrome with IgG-dependent hypersensitivity to cereal products...
March 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28333858/immune-reconstitution-inflammatory-syndrome-causing-progressive-optic-nerve-edema-in-cryptococcal-meningitis
#10
Astrid C Werner, Laurel N Vuong, Thomas R Hedges, Caroline R Baumal
PURPOSE: To report an human immunodeficiency virus-positive patient undergoing therapy for cryptococcal meningitis who developed progressive optic disc edema that was steroid responsive. METHODS: Observational case report. RESULTS: One month after commencing antifungal treatment for cryptococcal meningitis, the patient developed bilateral, progressive, recurrent optic disc edema with subretinal fluid that coincided with initiation of highly active antiretroviral therapy and recovery of CD4 cell counts...
March 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28333850/multimodality-ocular-imaging-in-a-case-report-of-hyperviscosity-syndrome-associated-with-lymphoplasmacytic-leukemia-the-images-tell-the-story
#11
Rene Y Choi, Rachel Jacoby, Akbar Shakoor
PURPOSE: To report the clinical course of a patient with ocular manifestations of hyperviscosity syndrome associated with Waldenström macroglobulinemia, and for the first time, video imaging of mobile emboli in the conjunctival and retinal vasculature. METHODS AND PATIENT: A 60-year-old woman with newly diagnosed Waldenström macroglobulinemia, with no visual complaints was evaluated by the Ophthalmology service for a baseline ocular examination. RESULTS: At presentation, ocular examination revealed a visual acuity of 20/25 in each eye...
March 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28333847/management-of-children-with-autism-spectrum-disorder-in-the-anesthesia-and-radiographic-context
#12
Ingalill G Berglund, Berit Björkman, Karing Enskär, Maria Faresjö, Karina Huus
OBJECTIVE: As a primary objective, this study purports to develop guidelines to better care for children with autism spectrum disorder (ASD), particularly regarding these children's preparation for anesthesia and radiologic procedures. METHODS: Using a Delphi method with an online distribution of questionnaire, guidelines for caring for children with ASD were created. Twenty-one participants were included in the expert panel. These participants were working with children with ASD in several anesthesia and radiology departments in Sweden...
March 21, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28333695/pulmonary-manifestations-of-rheumatologic-diseases
#13
Michal Cidon, Manvi Bansal, Dominik Hartl
PURPOSE OF REVIEW: The present review intends to provide an overview of the diversity and complexity of pulmonary manifestations of rheumatologic diseases and gaps in knowledge to effectively manage them. RECENT FINDINGS: Diffuse lung disease in children with rheumatologic diseases represents a heterogeneous group of autoimmune disorders. Despite their significant morbidity and mortality, we have limited understanding about their pathogenesis. Here, we provide an overview of the pathophysiology and current management approach of these disorders, highlighting tools which assist with diagnosis, risk stratification and therapy...
March 22, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28333601/simultaneous-occurrence-of-varicella-zoster-virus-induced-pancreatitis-and-hepatitis-in-a-renal-transplant-recipient-a-case-report-and-review-of-literature
#14
Puneet Chhabra, Priyadarshi Ranjan, Deepak K Bhasin
INTRODUCTION: Gastrointestinal complications are common after renal transplantation, including oral lesions, esophagitis, gastritis, diarrhea, and colon carcinoma. The differential diagnosis is difficult in this scenario because multiple factors such as drugs, infections, and preexisting gastrointestinal disease come into play. CASE PRESENTATION: We report a case of varicella zoster virus-induced pancreatitis and hepatitis in a renal transplant recipient. The patient underwent renal transplantation 3 years earlier and now presented with severe pain in the epigastrium radiating to his back and had raised serum lipase levels and skin lesions characteristic of varicella...
2017: Permanente Journal
https://www.readbyqxmd.com/read/28333460/exceptional-structural-compliance-of-the-b12f12-2-superweak-anion
#15
Dmitry V Peryshkov, Steven H Strauss
The single-crystal X-ray structures, thermogravimetric analyses, and/or FTIR spectra of a series of salts of the B12F12(2-) anion and homoleptic Ag(L)n(+) cations are reported (L = CH2Cl2, n = 2; L = PhCH3, n = 3; L = CH3CN; n = 2-4; L = CO, n = 1, 2). The superweak-anion nature of B12F12(2-) (Y(2-)) was demonstrated by the rapid reaction of microcrystalline Ag2(Y) with 1 atm of CO to form a nonclassical silver(I) carbonyl compound with an FTIR ν(CO) band at 2198 cm(-1) (and with the proposed formula [Ag(CO)n]2[Y])...
March 23, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/28333231/tolerability-of-integrase-inhibitors-in-a-real-life-setting
#16
Judit Peñafiel, Elisa de Lazzari, Mireia Padilla, Jhon Rojas, Ana Gonzalez-Cordon, Jose L Blanco, Jordi Blanch, Maria A Marcos, Montserrat Lonca, Maria Martinez-Rebollar, Montserrat Laguno, Amparo Tricas, Ana Rodriguez, Josep Mallolas, Jose M Gatell, Esteban Martinez
Background: Integrase inhibitors have shown better tolerability than other drugs in clinical trials, but some post-marketing data have suggested potential differences among them. Aims: We compared rates and reasons for discontinuation of raltegravir-, elvitegravir- and dolutegravir-based regimens in a large cohort of HIV-infected patients. Methods: Retrospective analysis of a prospectively followed cohort including all antiretroviral-naive and all virologically suppressed antiretroviral-experienced patients prescribed a first regimen containing raltegravir, elvitegravir or dolutegravir with at least one follow-up visit...
February 28, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28333114/inflammatory-cytokines-as-uremic-toxins-ni-son-todos-los-que-estan-ni-estan-todos-los-que-son
#17
REVIEW
Esmeralda Castillo-Rodríguez, Soledad Pizarro-Sánchez, Ana B Sanz, Adrian M Ramos, Maria Dolores Sanchez-Niño, Catalina Martin-Cleary, Beatriz Fernandez-Fernandez, Alberto Ortiz
Chronic kidney disease is among the fastest growing causes of death worldwide. An increased risk of all-cause and cardiovascular death is thought to depend on the accumulation of uremic toxins when glomerular filtration rate falls. In addition, the circulating levels of several markers of inflammation predict mortality in patients with chronic kidney disease. Indeed, a number of cytokines are listed in databases of uremic toxins and uremic retention solutes. They include inflammatory cytokines (IL-1β, IL-18, IL-6, TNFα), chemokines (IL-8), and adipokines (adiponectin, leptin and resistin), as well as anti-inflammatory cytokines (IL-10)...
March 23, 2017: Toxins
https://www.readbyqxmd.com/read/28332881/an-individualized-approach-to-the-evaluation-and-management-of-primary-aldosteronism
#18
Anand Vaidya, Carl D Malchoff, Richard J Auchus
OBJECTIVE: With the increased emphasis on personalized and individualized medicine, the American Association of Clinical Endocrinologists Adrenal Scientific Committee has developed a series of articles to update members on personalized medicine as it applies to adrenal diseases. METHODS: Synthesis of literature review, guidelines from professional societies, and personal experience. RESULTS: Since Conn described primary aldosteronism (PA) over 60 years ago, debate has raged about the prevalence of PA in the hypertensive population, the wisdom of broadly screening for PA, and prudent approach to the evaluation and management of these patients...
March 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28332859/magnesium-sulfate-mediate-morphine-administration-reduction-in-varicocelectomy-surgery
#19
Sedigheh Nadri, Hormoz Mahmoudvand, Mahmoud Reza Moradkhani
AIMS: Varicocelectomy is the most common operation carried out by doctors for male infertility treatment. The aim of varicocele treatment is to hinder the refluxing venous drainage to the testis, retaining arterial inflow, and lymphatic drainage. A lot of pain is generated after this surgery, and the use of opium should be reduced to nearest minimum, as all drugs are toxins. Thus the aim of the present study is to facilitate morphine usage reduction after varicocelectomy surgery. MATERIAL AND METHODS: One-hundred (100) patients who were varicocelectomy candidate were randomized into two groups: experimental group contain 50 patients and control group contain 50 patients as well...
March 23, 2017: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
https://www.readbyqxmd.com/read/28332775/ocular-involvement-in-pemphigus-vulgaris-a-retrospective-study-of-a-large-spanish-cohort
#20
Agustin España, Pilar Iranzo, Josep Herrero-González, José M Mascaro, Ricardo Suárez
BACKGROUND AND OBJECTIVES: Ocular/periocular involvement in pemphigus vulgaris (OPV) has rarely been reported. The objective of the present study was to investigate the pattern of OPV and define the prognostic value of its manifestation. PATIENTS AND METHODS: From 1985 to 2014, a total of 167 patients with pemphigus vulgaris (PV) were treated at four tertiary Spanish hospitals. In this retrospective study, we included all patients with OPV. Clinical data and information on associated symptoms were obtained from patients' medical records...
March 23, 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
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