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Reye Syndrom

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https://www.readbyqxmd.com/read/28922055/nance-horan-syndrome-in-females-due-to-a-balanced-x-1-translocation-that-disrupts-the-nhs-gene-familial-case-report-and-review-of-the-literature
#1
Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra Del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes, Verónica Fabiola Morán-Barroso
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them...
September 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28919129/dissecting-the-catatonia-phenotype-in-psychotic-and-mood-disorders-on-the-basis-of-familial-genetic-factors
#2
Victor Peralta, Lourdes Fañanás, Migdyrai Martín-Reyes, Manuel J Cuesta
BACKGROUND: This study examines the familial aggregation (familiality) of different phenotypic definitions of catatonia in a sample of multiplex families with psychotic and mood disorders. METHODS: Participants were probands with a lifetime diagnosis of a DSM-IV functional psychotic disorder, their parents and at least one first-degree relative with a psychotic disorder. The study sample included 441 families comprising 2703 subjects, of whom 1094 were affected and 1609 unaffected...
September 14, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28916459/variation-in-campylobacter-jejuni-culturability-in-presence-of-acanthamoeba-castellanii-neff
#3
María Reyes-Batlle, Cecilia Girbau, Atteneri López-Arencibia, Ines Sifaoui, Aitor Rizo Liendo, Carlos J Bethencourt Estrella, Ana B García Méndez, Olfa Chiboub, Soumaya Hajaji, Aurora Fernández-Astorga, Basilio Valladares, Enrique Martínez-Carretero, José E Piñero, Jacob Lorenzo-Morales
Free-living amoebae (FLA) are protozoa that are widely distributed in the environment mainly in water and soil related habitats. These amoebae have also been reported to be associated with some bacterial pathogens for humans such as Campylobacter spp. The species C. jejuni is the causative agent of about 90% of human campylobacteriosis cases worldwide and this disease may even end up in severe autoimmune sequelae as Guillain-Barré syndrome (GBS). In this study, the interactions between the strain Acanthamoeba castellanii Neff and Campylobacter jejuni was investigated...
September 12, 2017: Experimental Parasitology
https://www.readbyqxmd.com/read/28882395/genetic-variant-of-stickler-s-syndrome
#4
P Rocha Cabrera, L Cordovés Dorta, M A Serrano García, M J Losada Castillo, J A Abreu Reyes, M Gómez Resa
CASES REPORTS: Three myopic components of a same family came for study because presented severely degraded vitreous, equatorial membranes, retinal pigment epithelium hyperplasia, vascular sheathed and sclerosis of peripheral predominance. A genetic study confirmed the diagnosis of Stickler syndrome with a variant in the mutation of the COL2A1 gene. DISCUSSION: Stickler's syndrome should be suspected in families with a characteristic phenotype with vitreous syneresis and alterations in the retina, but there may be genetic variants that do not express the classic phenotype...
September 4, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28868030/association-of-posterior-reversible-encephalopathy-syndrome-and-transient-apical-ballooning-syndrome-takotsubo-first-case-report-of-a-man-and-review-of-the-literature
#5
Stephan Grimaldi, Emilie Doche, Caroline Rey, Nadia Laksiri, Salah Boussen, Jacques Quilici, Emmanuelle Robinet, Fabien Devemy, Jean Pelletier
INTRODUCTION: An association of posterior reversible encephalopathy syndrome (PRES) and takotsubo is rare. We present the first case of a male patient. CASE REPORT: A 69-year-old man presented to the hospital in a persistent comatose state following a generalized tonic-clonic seizure with high blood pressure. The electrocardiogram revealed transient left bundle branch block. Troponin and BNP were elevated. Cardiac ultrasound showed large apical akinesia with altered left ventricular ejection fraction, and the left ventriculogram showed characteristic regional wall motion abnormalities involving the mid and apical segments...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28852706/ultra-rare-mutations-in-srcap-segregate-in-caribbean-hispanic-families-with-alzheimer-disease
#6
Badri N Vardarajan, Giuseppe Tosto, Roger Lefort, Lei Yu, David A Bennett, Philip L De Jager, Sandra Barral, Dolly Reyes-Dumeyer, Peter L Nagy, Joseph H Lee, Rong Cheng, Martin Medrano, Rafael Lantigua, Ekaterina Rogaeva, Peter St George-Hyslop, Richard Mayeux
OBJECTIVE: To identify rare coding variants segregating with late-onset Alzheimer disease (LOAD) in Caribbean Hispanic families. METHODS: Whole-exome sequencing (WES) was completed in 110 individuals from 31 Caribbean Hispanic families without APOE ε4 homozygous carriers. Rare coding mutations segregating in families were subsequently genotyped in additional families and in an independent cohort of Caribbean Hispanic patients and controls. SRCAP messenger RNA (mRNA) expression was assessed in whole blood from mutation carriers with LOAD, noncarriers with LOAD, and healthy elderly controls, and also from autopsied brains in 2 clinical neuropathologic cohort studies of aging and dementia...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28819726/population-pharmacokinetics-of-stiripentol-in-paediatric-patients-with-dravet-syndrome-treated-with-stiripentol-valproate-and-clobazam-combination-therapy
#7
Sophie Peigné, Stéphanie Chhun, Michel Tod, Elisabeth Rey, Christelle Rodrigues, Catherine Chiron, Gérard Pons, Vincent Jullien
AIM: The aim of this study was to describe the pharmacokinetics of stiripentol in children with Dravet syndrome and to determine the concentrations of stiripentol achieved in this population for the usual 25 mg/kg twice-daily dose. METHODS: Thirty-five children with epilepsy were included in a prospective population pharmacokinetic study (using MONOLIX software). Four blood samples were drawn per patient. Stiripentol area under the plasma concentration-time curve (AUC) values and trough concentrations were simulated for 7000 theoretical children weighing between 10 and 70 kg for the 25 mg/kg twice-daily dose...
August 17, 2017: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/28805949/the-reversible-p2y12-antagonist-act-246475-causes-significantly-less-blood-loss-than-ticagrelor-at-equivalent-antithrombotic-efficacy-in-rat
#8
Markus Rey, Markus Kramberg, Patrick Hess, Keith Morrison, Roland Ernst, Franck Haag, Edgar Weber, Martine Clozel, Martine Baumann, Eva Caroff, Francis Hubler, Markus A Riederer, Beat Steiner
The P2Y12 receptor is a validated target for prevention of major adverse cardiovascular events in patients with acute coronary syndrome. The aim of this study was to compare two direct-acting, reversible P2Y12 antagonists, ACT-246475 and ticagrelor, in a rat thrombosis model by simultaneous quantification of their antithrombotic efficacy and surgery-induced blood loss. Blood flow velocity was assessed in the carotid artery after FeCl3 -induced thrombus formation using a Doppler flow probe. At the same time, blood loss after surgical wounding of the spleen was quantified...
October 2017: Pharmacology Research & Perspectives
https://www.readbyqxmd.com/read/28783504/puberty-arises-with-testicular-alterations-and-defective-amh-expression-in-rams-prenatally-exposed-to-testosterone
#9
S E Recabarren, M Recabarren, D Sandoval, A Carrasco, V Padmanabhan, R Rey, H G Richter, C C Perez-Marin, T Sir-Petermann, P P Rojas-Garcia
The male gonadal tissue can be a sensitive target to the reprogramming effects of testosterone (T) during prenatal development. We have demonstrated that male lambs born to dams receiving T during pregnancy-a model system to the polycystic ovary syndrome (PCOS)-show a decreased number of germ cells early in life, and when adult, a reduced amount of sperm and ejaculate volume. These findings are a key to put attention to the male offspring of women bearing PCOS, as they are exposed to increased levels of androgen during pregnancy which can reprogram their reproductive outcome...
June 23, 2017: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/28774657/prevalence-of-rheumatic-diseases-in-adult-population-in-spain-episer-2016-study-aims-and-methodology
#10
Daniel Seoane-Mato, Carlos Sánchez-Piedra, Lucía Silva-Fernández, Francisca Sivera, Francisco J Blanco, Fernando Pérez Ruiz, Antonio Juan-Mas, José M Pego-Reigosa, Javier Narváez, Neus Quilis Martí, Raúl Cortés Verdú, Fred Antón-Pagés, Víctor Quevedo Vila, Laura Garrido Courel, Natividad Del Val Del Amo, Inmaculada Paniagua Zudaire, Gustavo Añez Sturchio, Fermín Medina Varo, María Del Mar Ruiz Tudela, Antonio Romero Pérez, Javier Ballina, Anahy Brandy García, Dolores Fábregas Canales, Teresa Font Gayá, Carolina Bordoy Ferrer, Beatriz González Álvarez, Laura Casas Hernández, Fátima Álvarez Reyes, Mónica Delgado Sánchez, Cristina Martínez Dubois, Simón Ángel Sánchez-Fernández, Luisa Marena Rojas Vargas, Paula Virginia García Morales, Alejandro Olivé, Paula Rubio Muñoz, Marta Larrosa, Noemí Navarro Ricos, Eduard Graell Martín, Eugenio Chamizo, Lara Chaves Chaparro, Sara Rojas Herrera, Jordi Pons Dolset, Miguel Ángel Polo Ostariz, Susana Ruiz-Alejos Garrido, Cristina Macía Villa, Ana Cruz Valenciano, María Luisa González Gómez, Mercedes Morcillo Valle, Deseada Palma Sánchez, María José Moreno Martínez, Marta Mayor González, Joana Atxotegi Sáenz de Buruaga, Irati Urionagüena Onaindia, Boris Anthony Blanco Cáceres, Federico Díaz-González, Sagrario Bustabad
AIMS: To describe the methodology of the EPISER 2016 (study of the prevalence of rheumatic diseases in adult population in Spain), as well its strengths and limitations. The aim of this study is to estimate the prevalence of rheumatoid arthritis (RA), psoriatic arthritis (PsA), ankylosing spondylitis (AS), systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), osteoarthritis (knee, hip, hands, and cervical and lumbar spine), fibromyalgia, gout and clinical osteoporotic fracture...
July 31, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28768756/impact-of-timing-on-the-functional-recovery-achieved-with-platelet-supplementation-after-treatment-with-ticagrelor
#11
M Urooj Zafar, Donald A Smith, Usman Baber, Samantha Sartori, Kevin Chen, David W Lam, Carlos A Linares-Koloffon, Juan Rey-Mendoza, Gustavo Jimenez Britez, Gines Escolar, Valentin Fuster, Juan J Badimon
BACKGROUND: American College of Cardiology/American Heart Association guidelines advise waiting 5 to 7 days before operating on P2Y12 inhibitor-treated acute coronary syndrome patients, to allow dissipation of its antiplatelet effects. Platelet transfusion is often used to restore hemostasis during operations, but its effectiveness and optimal timing are unclear. We investigated the degree of functional gains obtained from platelet supplementation after loading and maintenance of dual antiplatelet therapy with ticagrelor and the influence of timing on this strategy...
August 2017: Circulation. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28756692/the-safety-of-available-treatments-for-chronic-constipation
#12
Blanca Serrano-Falcon, Enrique Rey
INTRODUCTION: Chronic constipation is a frequent syndrome which, not only causes an appreciable deterioration in quality of life, but also entails a high economic cost due, among other things, to its treatment. This is because of the widespread use of laxatives, even by subjects who have not sought medical care, as well as little patient satisfaction with the treatment. Although this generally involves the use of drugs regarded as safe, there is no clear evidence about their short- and long-term effects, something that complicates appropriate prescription and follow-up by health professionals and hinders therapeutic compliance...
July 31, 2017: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/28736762/confusion-in-the-study-of-immune-reconstitution-inflammatory-syndrome
#13
Claudia Alvarado-de la Barrera, Gustavo Reyes-Terán
As a consequence of late presentation for HIV care, a significant proportion of individuals develop immune reconstitution inflammatory syndrome (IRIS) soon after initiation of antiretroviral therapy. Incidence, predictors, and models of pathogenesis of IRIS vary in the literature. Here we discuss factors that may contribute to this lack of consensus. We propose that different pathogens drive different types of IRIS and suggest that these clinical conditions should be studied individually and not grouped under the general heading of "IRIS...
2017: Pathogens & Immunity
https://www.readbyqxmd.com/read/28722580/rapid-active-sampling-surveys-as-a-tool-to-evaluate-factors-associated-with-acute-gastroenteritis-and-norovirus-infection-among-children-in-rural-guatemala
#14
Daniel Olson, Molly M Lamb, Maria R Lopez, Maria A Paniagua-Avila, Alma Zacarias, Gabriela Samayoa-Reyes, Celia Cordon-Rosales, Edwin J Asturias
We examined burden and factors associated with norovirus (NoV) acute gastroenteritis (AGE) among children in rural Guatemala. Children age 6 weeks to 17 years were enrolled into three AGE surveillance groups, using two-stage cluster sampling: a prospective participatory syndromic surveillance (PSS) cohort and two cross-sectional rapid active sampling (RAS) surveys, conducted from April 2015 to February 2016. Epidemiologic and NoV testing data were used to identify factors associated with NoV infection, AGE, and NoV+ AGE...
June 19, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28715895/chronic-diarrhea-weight-loss-and-heart-failure-features-of-the-same-disease
#15
María Megía Sánchez, Carmen Poves Francés, Enrique Rey Díaz-Rubio
Carcinoid tumors are neoplasm that release hormone-like substances. They can produce liver metastasis and present with symptoms of the carcinoid syndrome. A 78 year old man presented with a history of chronic diarrhea, weight loss and shortness of breath.
July 18, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28713377/th1-and-th17-cells-and-associated-cytokines-discriminate-among-clinically-isolated-syndrome-and-multiple-sclerosis-phenotypes
#16
Gabriel Arellano, Eric Acuña, Lilian I Reyes, Payton A Ottum, Patrizia De Sarno, Luis Villarroel, Ethel Ciampi, Reinaldo Uribe-San Martín, Claudia Cárcamo, Rodrigo Naves
Multiple sclerosis (MS) is a chronic, inflammatory, and demyelinating disease of the central nervous system. It is a heterogeneous pathology that can follow different clinical courses, and the mechanisms that underlie the progression of the immune response across MS subtypes remain incompletely understood. Here, we aimed to determine differences in the immunological status among different MS clinical subtypes. Blood samples from untreated patients diagnosed with clinically isolated syndrome (CIS) (n = 21), different clinical forms of MS (n = 62) [relapsing-remitting (RRMS), secondary progressive, and primary progressive], and healthy controls (HCs) (n = 17) were tested for plasma levels of interferon (IFN)-γ, IL-10, TGF-β, IL-17A, and IL-17F by immunoanalysis...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28684614/ubiquinol-effects-on-antiphospholipid-syndrome-prothrombotic-profile-a-randomized-placebo-controlled-trial
#17
Carlos Pérez-Sánchez, María Ángeles Aguirre, Patricia Ruiz-Limón, María Carmen Abalos-Aguilera, Yolanda Jiménez-Gómez, Iván Arias-de la Rosa, Antonio Rodriguez-Ariza, Lucía Fernández-Del Río, José Antonio Gonzalez-Reyes, Pedro Segui, Eduardo Collantes-Estévez, Nuria Barbarroja, Francisco Velasco, Savino Sciascia, Irene Cecchi, María José Cuadrado, José Manuel Villalba, Chary López-Pedrera
OBJECTIVE: Antiphospholipid syndrome (APS) leukocytes exhibit an oxidative perturbation, directly linked to alterations in mitochondrial dynamics and metabolism. This disturbance is related to the patients' prothrombotic status and can be prevented by in vitro treatment with coenzyme Q10. Our aim was to investigate short-term effects of in vivo ubiquinol (reduced coenzyme Q10[Qred]) supplementation on markers related to inflammation and thrombosis in APS through a prospective, randomized, crossover, placebo-controlled trial...
July 6, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28681715/motor-cortex-trns-improves-pain-affective-and-cognitive-impairment-in-patients-with-fibromyalgia-preliminary-results-of-a-randomised-sham-controlled-trial
#18
RANDOMIZED CONTROLLED TRIAL
Massimiliano Curatolo, Giuseppe La Bianca, Giuseppe Cosentino, Roberta Baschi, Giuseppe Salemi, Rossella Talotta, Marcello Romano, Giovanni Triolo, Marina De Tommaso, Brigida Fierro, Filippo Brighina
OBJECTIVES: Fibromyalgia (FM) is a clinical syndrome characterised by widespread musculoskeletal pain, chronic fatigue, cognitive deficits, and sleep and mood disorders. The effectiveness of most pharmacological treatments is limited, and there is a need for new, effective and well-tolerated therapies. It has recently been shown that transcranial direct-current stimulation (tDCS) of the motor cortex reduces pain, and that tDCS of the dorso-lateral prefrontal cortex (DLPFC) improves anxiety, depression and cognitive impairment in FM patients...
May 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28668717/predictors-of-rapid-high-weight-gain-in-schizophrenia-longitudinal-analysis-of-the-french-face-sz-cohort
#19
O Godin, M Leboyer, F Schürhoff, L Boyer, M Andrianarisoa, L Brunel, E Bulzacka, B Aouizerate, F Berna, D Capdevielle, T D'Amato, H Denizot, C Dubertret, J Dubreucq, C Faget, F Gabayet, P M Llorca, J Mallet, D Misdrahi, C Passerieux, R Rey, R Richieri, A Schandrin, M Urbach, P Vidailhet, D Costagliola, G Fond
Metabolic syndrome (MetS) is highly prevalent in schizophrenia. However very little is known about the time course of MetS and its components. The few longitudinal studies that have been carried out had small sample sizes and a short follow-up. The aim of our study was to evaluate the prevalence of MetS and its components, at baseline and one year later, and to investigate predictors of weight gain (WG) in a cohort of individuals with schizophrenia. We followed 167 schizophrenia patients from the FACE-SZ cohort for one year...
June 20, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28666081/major-histocompatibility-complex-class-ii-alleles-influence-induction-of-pathogenic-antiphospholipid-antibodies-in-a-mouse-model-of-thrombosis
#20
Elizabeth Papalardo, Zurina Romay-Penabad, Rohan Willis, Premkumar Christadoss, Ana Laura Carrera-Marin, Elba Reyes-Maldonado, Rajani Rudrangi, Silvana Alfieri-Papalardo, Ethel Garcia-Latorre, Miri Blank, Silvia Pierangeli, Allan R Brasier, Emilio B Gonzalez
OBJECTIVE: Both environmental and genetic factors are important in the development of antiphospholipid antibodies (aPL) in patients with antiphospholipid syndrome (APS). Currently, the only available data on predisposing genetic factors have been obtained from epidemiologic studies, without mechanistic evidence. Therefore, we studied the influence of major histocompatibility complex (MHC) class II alleles on the production of aPL in a mouse model of APS. METHODS: Three groups of mice, MHC class II-deficient (MHCII(-/-) ) mice, MHCII(-/-) mice transgenic for human HLA-DQ6 (DQ6), DQ8, or DR4 alleles, and the corresponding wild-type (WT) mouse strains were immunized; half were immunized with human β2 -glycoprotein I (β2 GPI), and the other half were immunized with control ovalbumin (OVA) protein...
June 30, 2017: Arthritis & Rheumatology
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