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Roxann Diez Gross, Ronit Gisser, Gregory Cherpes, Katie Hartman, Rishi Maheshwary
Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS...
October 19, 2016: American Journal of Medical Genetics. Part A
Fernando J Sialana, Peter Gulyassy, Peter Májek, Evelina Sjöstedt, Viktor Kis, André C Müller, Elena L Rudashevskaya, Jan Mulder, Keiryn L Bennett, Gert Lubec
The molecular composition of synaptic signal transduction machineries shapes synaptic neurotransmission. The repertoire of receptors, transporters and channels (RTCs) comprises major signaling events in the brain. RTCs are conventionally studied by candidate immunohistochemistry and biochemistry, which are low throughput with resolution greatly affected by available immunoreagents and membrane interference. Therefore, a comprehensive resource of synaptic brain RTCs is still lacking. In particular, studies on the detergent-soluble synaptosomal fraction, known to contain transporters and channels, are limited...
October 19, 2016: Proteomics
Maxime Cailleret, Steven Jansen, Elisabeth M R Robert, Lucía Desoto, Tuomas Aakala, Joseph A Antos, Barbara Beikircher, Christof Bigler, Harald Bugmann, Marco Caccianiga, Vojtěch Čada, J Julio Camarero, Paolo Cherubini, Hervé Cochard, Marie R Coyea, Katarina Čufar, Adrian J Das, Hendrik Davi, Sylvain Delzon, Michael Dorman, Guillermo Gea-Izquierdo, Sten Gillner, Laurel J Haavik, Henrik Hartmann, Ana-Maria Hereş, Kevin R Hultine, Pavel Janda, Jeffrey M Kane, Vyacheslav I Kharuk, Thomas Kitzberger, Tamir Klein, Koen Kramer, Frederic Lens, Tom Levanic, Juan Carlos Linares Calderon, Francisco Lloret, Raquel Lobo-Do-Vale, Fabio Lombardi, Rosana López Rodríguez, Harri Mäkinen, Stefan Mayr, Ilona Mészáros, Juha M Metsaranta, Francesco Minunno, Walter Oberhuber, Andreas Papadopoulos, Mikko Peltoniemi, Any Mary Petritan, Brigitte Rohner, Gabriel Sangüesa-Barreda, Dimitrios Sarris, Jeremy M Smith, Amanda B Stan, Frank Sterck, Dejan B Stojanović, Maria Laura Suarez, Miroslav Svoboda, Roberto Tognetti, José M Torres-Ruiz, Volodymyr Trotsiuk, Ricardo Villalba, Floor Vodde, Alana R Westwood, Peter H Wyckoff, Nikolay Zafirov, Jordi Martínez-Vilalta
Tree mortality is a key factor influencing forest functions and dynamics, but our understanding of the mechanisms leading to mortality and the associated changes in tree growth rates are still limited. We compiled a new pan-continental tree-ring width database from sites where both dead and living trees were sampled (2,970 dead and 4,224 living trees from 190 sites, including 36 species), and compared early and recent growth rates between trees that died and those that survived a given mortality event. We observed a decrease in radial growth before death in ca...
October 19, 2016: Global Change Biology
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that disrupted DPP6, a potassium channel interacting protein. Copy Number (CN) analysis in 14,077 cases with neurodevelopmental disorders and 8,960 control subjects revealed that 60% of cases with exonic deletions in LRRC4C had a second clinically recognizable syndrome associated with variable clinical phenotypes, including 16p11...
October 19, 2016: American Journal of Medical Genetics. Part A
Buki Kwon, Palinda Ruvan Munashingha, Yong-Keol Shin, Chul-Hwan Lee, Bing Li, Yeon-Soo Seo
Highly conserved eukaryotic histones are polybasic proteins that package DNA into nucleosomes, a building block of chromatin, allowing extremely long DNA molecules to form compact and discrete chromosomes. The histone N-terminal tails that extend from the nucleosome core act as docking sites for many proteins through diverse posttranslational modifications, regulating various DNA transactions. In this report, we present evidence that the nucleosomes can positively regulate the enzymatic activity of Rad27 (yeast Fen1), a major processing enzyme important for Okazaki fragment in eukaryotes...
October 19, 2016: FEBS Journal
Marlen Vitales-Noyola, Rita Martínez-Martínez, Juan P Loyola-Rodríguez, Lourdes Baranda, Perla Niño-Moreno, Roberto González-Amaro
BACKGROUND: Periodontal disease is chronic inflammatory process that affects the attachment structures of the teeth and constitutes a significant cause of tooth loss in adults. Although different bacteria play an important role in the triggering of this condition, the progression and severity of the disease are strongly affected by the host immune response, which is under the control of different immune-regulatory mechanisms, including T regulatory (Treg) cells. The aim of this study was to assess the frequency and function of CD69(+) Treg lymphocytes in patients with chronic periodontal disease...
October 19, 2016: Journal of Oral Pathology & Medicine
Yang Yu, Igor Petrik, Kelly N Chacón, Parisa Hosseinzadeh, Honghui Chen, Ninian J Blackburn, Yi Lu
Type 1 copper (T1Cu) proteins are electron transfer (ET) proteins involved in many important biological processes. While the effects of changing primary and secondary coordination spheres in the T1Cu ET function have been extensively studied, no report has explored the effect of the overall protein structural perturbation on active site configuration or reduction potential of the protein, even though the protein scaffold has been proposed to play a critical role in enforcing the entatic or "rack-induced" state for ET functions...
October 19, 2016: Protein Science: a Publication of the Protein Society
Rosemary Fama, Edith V Sullivan, Stephanie A Sassoon, Adolf Pfefferbaum, Natalie M Zahr
BACKGROUND: Executive functioning and episodic memory impairment occur in HIV infection (HIV) and chronic alcoholism (ALC). Comorbidity of these conditions (HIV + ALC) is prevalent and heightens risk of vulnerability to separate and compounded deficits. Age and disease-related variables can also serve as mediators of cognitive impairment and should be considered, given the extended longevity of HIV-infected individuals in this era of improved pharmacological therapy. METHODS: HIV, ALC, HIV + ALC, and normal controls (NC) were administered traditional and computerized tests of executive function and episodic memory...
October 19, 2016: Alcoholism, Clinical and Experimental Research
Sharon L I Wong, Maria B Sukkar
Secreted protein acidic and rich in cysteine (SPARC) is a matricellular protein which regulates interactions between cells and their surrounding extracellular matrix (ECM), and thus governs fundamental cellular functions such as cell adhesion, proliferation and differentiation. SPARC also regulates the expression and activity of numerous growth factors and matrix metalloproteinases essential for ECM degradation and turnover. Studies in SPARC-null mice have revealed a critical role for SPARC in tissue development, injury and repair, and in the regulation of the immune response...
October 19, 2016: British Journal of Pharmacology
Zühtü Özbek, Hasan Emre Aydin, Atacan Emre Koçman, Emre Özkara, Erdem Söztutar, Ezgi Bektur, Murat Vural, Aydan Köse, Ali Arslantaş, Cengiz Bayçu
AIM: In this study, we investigated the effects of genistein in a rat model of sciatic nerve crush injury and complete sciatic nerve transection. The effects of genistein were compared with those of gabapentin, which is widely used in clinical practice for peripheral nerve injury. MATERIAL AND METHODS: Forty-eight rats were randomly divided into six groups (n = 8 for all groups): group 1 (sham); group 2, sciatic nerve crush injury (control); group 3, sciatic nerve crush injury + genistein 20 mg/kg; group 4, sciatic nerve crush injury + gabapentin 90 mg/kg; group 5, sciatic nerve transection + genistein 20 mg/kg; group 6, sciatic nerve transection + gabapentin 90 mg/kg...
September 21, 2016: Turkish Neurosurgery
Suzy L Wong
BACKGROUND: Grip strength is a measure of overall muscular strength and has been associated with disability, morbidity and mortality. Normative data are used to interpret an individual's grip strength measurements, but Canadian reference values are not available for a wide age range. DATA AND METHODS: The data pertain to 11,108 respondents aged 6 to 79 to the 2007-to-2013 Canadian Health Measures Survey, whose right-hand and left-hand grip strength were measured with a handgrip dynamometer...
October 19, 2016: Health Reports
Yuji Itoh, Daniel Petkovsek, Peter K Kaiser, Rishi P Singh, Justis P Ehlers
BACKGROUND AND OBJECTIVE: To assess the relationship between spectral-domain optical coherence tomography (SD-OCT) features and functional outcomes for diabetic macular edema (DME) undergoing treatment with intravitreal bevacizumab (Avastin; Genentech, South San Francisco, CA). PATIENTS AND METHODS: Institutional review board-approved, retrospective, consecutive case series of eyes receiving intravitreal bevacizumab (1.25 mg) for DME. SD-OCT features were evaluated and correlated with functional response to anti-vascular endothelial growth factor (VEGF) therapy...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Luis Schiper, Bluma Linkowski Faintuch, Roberto José da Silva Badaró, Erica Aparecida de Oliveira, Victor E Arana Chavez, Elisangela Chinen, Joel Faintuch
OBJECTIVES: Conventional imaging methods are excellent for the morphological characterization of the consequences of osteonecrosis; however, only specialized techniques have been considered useful for obtaining functional information. To explore the affinity of radiotracers for severely devascularized bone, a new mouse model of isolated femur implanted in a subcutaneous abdominal pocket was devised. To maintain animal mobility and longevity, the femur was harvested from syngeneic donors...
October 1, 2016: Clinics
Xing Zhou Qu, Ming Yi Wang, Hui Shan Ong, Chen Ping Zhang
OBJECTIVES: This study aimed to evaluate the stability of prostheses supported by zygoma implants and remaining teeth for subjects who had undergone hemi-maxillectomy. METHODS: Ten patients were included in the study. Oral rehabilitation was performed using a temporary prosthesis that was supported by remaining teeth for the first three months. Then, a zygoma implant was placed to provide support for a final prosthesis in addition to the remaining teeth. Each prosthesis was tailor-made according to biomechanical three-dimensional finite element analysis results...
October 1, 2016: Clinics
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Flávio Moura Rezende, Acary Souza Bulle Oliveira
Motor neuron disease is one of the major groups of neurodegenerative diseases, mainly represented by amyotrophic lateral sclerosis. Despite wide genetic and biochemical data regarding its pathophysiological mechanisms, motor neuron disease develops under a complex network of mechanisms not restricted to the unique functions of the alpha motor neurons but which actually involve diverse functions of glial cell interaction. This review aims to expose some of the leading roles of glial cells in the physiological mechanisms of neuron-glial cell interactions and the mechanisms related to motor neuron survival linked to glial cell functions...
October 2016: Arquivos de Neuro-psiquiatria
Ying Yang, Xiaojing Cheng, Qingzhi Xu, Renjun Li, Zengxun Liu, Liping Wang, Yanqing Zhang, Guoqiang Ren, Jintong Liu
Objective: To evaluate the effect of maintenance modified electroconvulsive therapy (MECT) on schizophrenic patients. Methods: From June 2012 to June 2014, 62 patients with schizophrenia, who had recovered from a successful course of acute MECT, were recruited. Thirty-one patients received maintenance MECT and risperidone, as the experimental group. Another 31 patients were enrolled in the control group, and received risperidone only. The effects on cognitive functions, clinical symptoms and relapse rate were determined...
October 2016: Arquivos de Neuro-psiquiatria
Luciana G Madeira, Renata Lf Passos, Juliana F de Souza, Nilton A Rezende, Luiz O C Rodrigues
Objective: Neurofibromatosis type 1 (NF1) causes neural and cutaneous disorders and reduced exercise capacity. Exercise/heat exposure increasing internal temperature must be compensated by eccrine sweat function and warmed skin vasodilation. We suspected NF1 could adversely affect eccrine sweat function and/or vascular thermoregulatory responses (VTR). Methods: The eccrine sweat function and VTR of 25 NF1 volunteers (14 males, 11 females; 16-57 years old) were compared with 23 non-NF1 controls matched by sex, age, height and weight (CG)...
October 2016: Arquivos de Neuro-psiquiatria
Ana Luiza Flores Saenger, Celia Pereira Caldas, Luciana Branco Motta
Screening with a simplified instrument is effective for identifying elderly at risk of functional decline, for more comprehensive subsequent evaluation. However, use of a measurement tool in a different sociocultural context from the original requires prior adaptation. The current article aims to describe the initial stages of a cross-cultural adaptation of PRISMA-7, a questionnaire developed to identify community-dwelling elderly at risk of functional decline. Evaluation of conceptual and item equivalences showed pertinence to the Brazilian context...
October 10, 2016: Cadernos de Saúde Pública
Juarez Pereira Furtado, Wagner Yoshizaki Oda, Igor da Costa Borysow, Silke Kapp
The term "territory" and its correlates have become commonplace in the field of Mental Health since the psychiatric reform, a potentially emancipatory milestone in non-hospital-centered ideals. However, in a previous empirical study, we found a lack of consistent concepts and practices (corresponding to the use of this term) in the territorial reinsertion of persons with mental illness. To clarify the term's various uses and its possible correlations in practice, we have conducted a systematic survey of scientific articles and official documents, comparing them to each other and with the concept of territory from Critical Geography...
October 10, 2016: Cadernos de Saúde Pública
Marcos Vinícius Zanchet, Larissa Luvison Gomes da Silva, Jorge Eduardo Fouto Matias, Júlio Cezar Uili Coelho
Background: The outcome of the patients after liver transplant is complex and to characterize the risk for complications is not always easy. In this context, the hepatic post-reperfusion biopsy is capable of portraying alterations of prognostic importance. Aim: To compare the results of liver transplantation, correlating the different histologic features of the hepatic post-reperfusion biopsy with graft dysfunction, primary non-function and patient survival in the first year after transplantation...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
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