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https://www.readbyqxmd.com/read/28334945/ubiquitin-related-network-underlain-by-cag-n-loci-modulate-age-at-onset-in-machado-joseph-disease
#1
Zhao Chen, Chunrong Wang, Caifa Zheng, Zhe Long, Li Cao, Xunhua Li, Huifang Shang, Xinzhen Yin, Baorong Zhang, Jingyu Liu, Dongxue Ding, Yun Peng, Huirong Peng, Wei Ye, Rong Qiu, Qian Pan, Kun Xia, Shengdi Chen, Jorge Sequeiros, Tetsuo Ashizawa, Beisha Tang, Hong Jiang
No abstract text is available yet for this article.
February 15, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28333849/autism-spectrum-disorder-in-males-with-sex-chromosome-aneuploidy-xxy-klinefelter-syndrome-xyy-and-xxyy
#2
Nicole R Tartaglia, Rebecca Wilson, Judith S Miller, Jessica Rafalko, Lisa Cordeiro, Shanlee Davis, David Hessl, Judith Ross
OBJECTIVE: Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD diagnoses in SCA. METHODS: Evaluation of participants with XXY/KS (n=20), XYY (n=57) and XXYY (n=21) included medical history, cognitive/adaptive testing, Social Communication Questionnaire, Social Responsiveness Scale, Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, and DSM ASD criteria...
March 21, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28329250/sudden-cardiac-arrest-risk-assessment-population-science-and-the-individual-risk-mandate
#3
Robert J Myerburg, Jeffrey J Goldberger
Importance: High-resolution stratification of risk of sudden cardiac arrest (SCA) in individual patients is a tool that is necessary for achieving effective and efficient application of data generated by population-based research. This concept is at the core of initiatives for merging cost effectiveness with maximized clinical efficiency and individual patient treatment. Observations: For this review, we analyzed data on sudden cardiac death and SCA available from population studies that included large longitudinal and cross-sectional databases, observational cohort studies, and randomized clinical trials...
March 22, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28327921/the-superior-cerebellar-artery-aneurysm-a-posterior-circulation-aneurysm-with-favorable-microsurgical-outcomes
#4
Ana Rodríguez-Hernández, Brian P Walcott, Harjus Birk, Michael T Lawton
BACKGROUND: Superior cerebellar artery (SCA) aneurysms are usually grouped with aneurysms that arise from the upper basilar artery or more broadly, the posterior circulation. However, the SCA aneurysm has distinctive anatomy that facilitates safe surgical management, notably few associated perforating arteries, and excellent exposure in the carotid-oculomotor triangle. OBJECTIVE: To demonstrate the outcomes of patients treated with microsurgery in a continuous surgical series...
January 24, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#5
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28319124/different-subregional-metabolism-patterns-in-patients-with-cerebellar-ataxia-by-18f-fluorodeoxyglucose-positron-emission-tomography
#6
Minyoung Oh, Jae Seung Kim, Jungsu S Oh, Chong Sik Lee, Sun Ju Chung
We evaluated cerebellar subregional metabolic alterations in patients with cerebellar ataxia, a representative disease involving the spinocerebellum. We retrospectively analyzed 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) images in 44 patients with multiple system atrophy of the cerebellar type (MSA-C), 9 patients with spinocerebellar ataxia (SCA) type 2, and 14 patients with SCA type 6 and compared with 15 patients with crossed cerebellar diaschisis (CCD) and 89 normal controls. Cerebellar subregional metabolism was assessed using 13 cerebellar subregions (bilateral anterior lobes [ANT], superior/mid/inferior posterior lobes [SUPP/MIDP/INFP], dentate nucleus [DN], anterior vermis [ANTV], and superior/inferior posterior vermis [SUPV/INFV]) to determine FDG uptake ratios...
2017: PloS One
https://www.readbyqxmd.com/read/28318017/thymic-crosstalk-restrains-the-pool-of-cortical-thymic-epithelial-cells-with-progenitor-properties
#7
Catarina Meireles, Ana R Ribeiro, Rute D Pinto, Catarina Leitão, Pedro M Rodrigues, Nuno L Alves
Cortical (cTEC) and medullary (mTEC) thymic epithelial cells establish key microenvironments for T-cell differentiation and arise from thymic epithelial cell progenitors (TEP). However, the nature of TEPs and the mechanism controlling their stemness in the postnatal thymus remain poorly defined. Using TEC clonogenic assays as a surrogate to survey TEP activity, we found that a fraction of cTECs generates specialized clonal-derived colonies, which contain cells with sustained colony-forming capacity (ClonoTECs)...
March 20, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28314818/allometric-analysis-detects-brain-size-independent-effects-of-sex-and-sex-chromosome-complement-on-human-cerebellar-organization
#8
Catherine Mankiw, Min Tae M Park, P K Reardon, Ari M Fish, Liv S Clasen, Deanna Greenstein, Jay N Giedd, Jonathan D Blumenthal, Jason P Lerch, M Mallar Chakravarty, Armin Raznahan
The cerebellum is a large hindbrain structure that is increasingly recognized for its contribution to diverse domains of cognitive and affective processing in human health and disease. Although several of these domains are sex-biased, our fundamental understanding of cerebellar sex differences - including their spatial distribution, potential biological determinants, and independence from brain volume variation - lags far behind that for the cerebrum. Here, we harness automated neuroimaging methods for cerebellar morphometrics in 417 individuals to (i) localize normative male-female differences in raw cerebellar volume, (ii) compare these to sex chromosome effects estimated across five rare X-/Y-chromosome aneuploidy (SCA) syndromes, and (iii) clarify brain size-independent effects of sex and SCA on cerebellar anatomy using a generalizable allometric approach which considers scaling relationships between regional cerebellar volume and brain volume in health...
March 17, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28286093/needle-based-confocal-laser-endomicroscopy-for-the-diagnosis-of-pancreatic-cystic-lesions-an-international-external-interobserver-and-intraobserver-study-with-videos
#9
Somashekar G Krishna, William R Brugge, John M Dewitt, Pradermchai Kongkam, Bertrand Napoleon, Carlos Robles-Medranda, Damien Tan, Samer El-Dika, Sean McCarthy, Jon Walker, Mary E Dillhoff, Andrei Manilchuk, Carl Schmidt, Benjamin Swanson, Zarine K Shah, Phil A Hart, Darwin L Conwell
BACKGROUND AND AIMS: EUS-guided nCLE characteristics of common types of PCLs have been identified; however surgical histopathology was available in a minority of subjects. We sought to assess the performance characteristics of EUS-nCLE for differentiating mucinous from non-mucinous PCLs in a larger series of subjects with a definitive diagnosis. METHODS: Six endosonographers (nCLE experience >30 cases each) blinded to all clinical data, reviewed nCLE images of PCLs from 29 subjects with surgical (n=23) or clinical (n=6) correlation...
March 9, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28283549/mild-hypothermia-preserves-myocardial-conduction-during-ischemia-by-maintaining-gap-junction-intracellular-communication-and-sodium-channel-function
#10
Michelle Mj Nassal, Xiaoping Wan, Zack Dale, Isabelle Deschenes, Lance D Wilson, Joseph Stephen Piktel
BACKGROUND: Acute cardiac ischemia induces conduction velocity (CV) slowing and conduction block, promoting reentrant arrhythmias leading to sudden cardiac arrest (SCA). Previously, we found that mild hypothermia (MH, 32°C) attenuates ischemia-induced conduction block and CV slowing in a canine model of early global ischemia. Acute ischemia impairs cellular excitability and the GJ protein connexin 43 (Cx43). We hypothesized that MH prevented ischemia-induced conduction block and CV slowing by preserving GJ expression and localization...
March 10, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28280363/discrimination-of-serous-cystadenoma-from-mucinous-cystadenoma-in-the-pancreas-with-contrast-enhanced-ultrasonography-a-prospective-study-in-61-patients
#11
Ya Sun, Fubo Zhou, Fangyi Liu, Yanyan Hu, Shuilian Tan, Ping Liang, Enqiang Linghu, Xiaoling Yu
OBJECTIVES: The preoperative diagnosis between serous cystadenomas (SCAs) and mucinous cystadenomas (MCAs) in pancreas is significant due to their completely different biological behaviors. The purpose of our study was to examine and compare detailed contrast-enhanced ultrasonography (CEUS) images of SCAs and MCAs and to determine whether there are significant findings that can contribute to the discrimination between these two diseases. METHODS: From April 2015 to June 2016, 61 patients (35 patients with SCAs and 26 patients with MCAs) were enrolled in this study...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28266924/an-evolution-based-strategy-for-engineering-allosteric-regulation
#12
David Pincus, Orna Resnekov, Kimberly Reynolds
Allosteric regulation provides a way to control protein activity at the time scale of milliseconds to seconds inside the cell. An ability to engineer synthetic allosteric systems would be of practical utility for the development of novel biosensors, creation of synthetic cell signaling pathways, and design of small molecule pharmaceuticals with regulatory impact. To this end, we outline a general approach - termed Rational Engineering of Allostery at Conserved Hotspots (REACH) - to introduce novel regulation into a protein of interest by exploiting latent allostery that has been hard-wired by evolution into its structure...
March 6, 2017: Physical Biology
https://www.readbyqxmd.com/read/28265105/glioprotection-of-retinal-astrocytes-after-intravitreal-administration-of-memantine-in-the-mouse-optic-nerve-crush-model
#13
Ruta Maciulaitiene, Giedre Pakuliene, Simon Kaja, Dainius Haroldas Pauza, Giedrius Kalesnykas, Ingrida Januleviciene
BACKGROUND In glaucoma, non-intraocular pressure (IOP)-related risk factors can result in increased levels of extracellular glutamate, which triggers a cascade of neurodegeneration characterized by the excessive activation of N-methyl-D-aspartate (NMDA). The purpose of our study was to evaluate the glioprotective effects of memantine as a prototypic uncompetitive NMDA blocker on retinal astrocytes in the optic nerve crush (ONC) mouse model for glaucoma. MATERIAL AND METHODS Optic nerve crush was performed on all of the right eyes (n=8), whereas left eyes served as contralateral healthy controls (n=8) in Balb/c/Sca mice...
March 7, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28264588/communication-partner-training-for-health-care-professionals-in-an-inpatient-rehabilitation-setting-a-parallel-randomised-trial
#14
Renee Heard, Robyn O'halloran, Kathryn Mckinley
PURPOSE: The purpose of this study is to determine if the E-Learning Plus communication partner training (CPT) programme is as effective as the Supported Conversation for Adults with Aphasia (SCA(TM)) CPT programme in improving healthcare professionals' confidence and knowledge communicating with patients with aphasia. METHOD: Forty-eight healthcare professionals working in inpatient rehabilitation participated. Participants were randomised to one of the CPT programmes...
March 7, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28257476/cardiac-iron-overload-in-chronically-transfused-patients-with-thalassemia-sickle-cell-anemia-or-myelodysplastic-syndrome
#15
Mariane de Montalembert, Jean-Antoine Ribeil, Valentine Brousse, Agnes Guerci-Bresler, Aspasia Stamatoullas, Jean-Pierre Vannier, Cécile Dumesnil, Agnès Lahary, Mohamed Touati, Krimo Bouabdallah, Marina Cavazzana, Emmanuelle Chauzit, Amandine Baptiste, Thibaud Lefebvre, Hervé Puy, Caroline Elie, Zoubida Karim, Olivier Ernst, Christian Rose
The risk and clinical significance of cardiac iron overload due to chronic transfusion varies with the underlying disease. Cardiac iron overload shortens the life expectancy of patients with thalassemia, whereas its effect is unclear in those with myelodysplastic syndromes (MDS). In patients with sickle cell anemia (SCA), iron does not seem to deposit quickly in the heart. Our primary objective was to assess through a multicentric study the prevalence of cardiac iron overload, defined as a cardiovascular magnetic resonance T2*<20 ms, in patients with thalassemia, SCA, or MDS...
2017: PloS One
https://www.readbyqxmd.com/read/28255331/detection-of-impaired-cerebral-autoregulation-using-selected-correlation-analysis-a-validation-study
#16
Martin A Proescholdt, Rupert Faltermeier, Sylvia Bele, Alexander Brawanski
Multimodal brain monitoring has been utilized to optimize treatment of patients with critical neurological diseases. However, the amount of data requires an integrative tool set to unmask pathological events in a timely fashion. Recently we have introduced a mathematical model allowing the simulation of pathophysiological conditions such as reduced intracranial compliance and impaired autoregulation. Utilizing a mathematical tool set called selected correlation analysis (sca), correlation patterns, which indicate impaired autoregulation, can be detected in patient data sets (scp)...
2017: Computational and Mathematical Methods in Medicine
https://www.readbyqxmd.com/read/28250985/factors-associated-with-growth-retardation-in-children-suffering-from-sickle-cell-anemia-first-report-from-central-africa
#17
Aimé Lukusa Kazadi, René Makuala Ngiyulu, Jean Lambert Gini-Ehungu, Jean Marie Mbuyi-Muamba, Michel Ntetani Aloni
Background. The aim of this study was to investigate and determine the risk factors associated with poor growth among SCA children. Methods. A cross-sectional study was conducted in Kinshasa, the capital's country. The nutritional status was assessed using the Z scores of the anthropometric indices. Results. We gathered data on the 256 patients, 138 females (53.9%), who entered the study. The mean age at presentation was 8.4 ± 4.9 years of age. Underweight, stunting, and wasting were found, respectively, in 47...
2017: Anemia
https://www.readbyqxmd.com/read/28238414/histological-features-of-bone-marrow-in-paediatric-patients-during-the-asymptomatic-phase-of-early-stage-black-african-sickle-cell-anaemia
#18
Alessandro Mauriello, Erica Giacobbi, Andrea Saggini, Antonella Isgrò, Simone Facchetti, Lucia Anemona
Bone marrow histological features of sickle cell anaemia (SCA) patients during early stages and in the asymptomatic phase of the disease appear an interesting area of study, representing early-stage consequences of SCA with a close relation to its pathophysiology. Unfortunately, this field of research has never been specifically addressed before. Bone marrow biopsies from 26 consecutive Black African SCA patients (M:F=1.6:1; age 2-17 years), free of clinical signs of chronic bone marrow damage, with no recent history of symptomatic vaso-occlusive episodes, and waiting for haematopoietic stem cell transplantation (HSCT), underwent morphological, immunohistochemical and electron microscopy evaluation...
February 23, 2017: Pathology
https://www.readbyqxmd.com/read/28228768/genome-wide-single-nucleotide-polymorphisms-in-cms-and-restorer-lines-discovered-by-genotyping-using-sequencing-and-association-with-marker-combining-ability-for-12-yield-related-traits-in-oryza-sativa-l-subsp-japonica
#19
Imdad U Zaid, Weijie Tang, Erbao Liu, Sana U Khan, Hui Wang, Edzesi W Mawuli, Delin Hong
Heterosis or hybrid vigor is closely related with general combing ability (GCA) of parents and special combining ability (SCA) of combinations. The evaluation of GCA and SCA facilitate selection of parents and combinations in heterosis breeding. In order to improve combining ability (CA) by molecular marker assist selection, it is necessary to identify marker loci associated with the CA. To identify the single nucleotide polymorphisms (SNP) loci associated with CA in the parental genomes of japonica rice, genome-wide discovered SNP loci were tested for association with the CA of 18 parents for 12 yield-related traits...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28219301/lunatum-excision-and-scaphocapitate-arthrodesis-in-kienb%C3%A3-ck-s-disease
#20
Güzelali Özdemir, Turgut Akgül, Özgür Çiçekli, Barış Yılmaz, Hasan Atbinici, Ferit Yücel
PURPOSE: The aim of this study was to compare functional results before and after lunatum excision and scaphocapitate arthrodesis (SCA) using an angular stable circular plate in patients with Lichtman's stage IIIB Kienböck's disease. METHODS: The study included nine patients (six females and three males) with a mean age of 33.2 ± 11 years (range: 18-54 years). Clinical and radiological assessment before and after surgery included wrist extension and flexion, range of motion and grip strength, visual analogue scale (VAS) score to assess pain, modified Mayo wrist scores, and measurements of the scapholunate (SL) angle and modified carpal height ratio...
January 2017: Journal of Orthopaedic Surgery
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