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A Ridder, M L T M Müller, V Kotagal, K A Frey, R L Albin, N I Bohnen
OBJECTIVES: Dopaminergic degeneration affects both nigrostriatal projection neurons and retinal amacrine cells in Parkinson disease (PD). Parkinsonian retinopathy is associated with impaired color discrimination and contrast sensitivity. Some prior studies described associations between color discrimination deficits and cognitive deficits in PD, suggesting that contrast discrimination deficits are due, at least in part, to cognitive deficits in PD. We investigated the relationship between cognitive deficits and impaired contrast sensitivity in PD...
October 7, 2016: Parkinsonism & related Disorders
Lucia Mauri, Emanuela Manfredini, Alessandra Del Longo, Emanuela Veniani, Manuela Scarcello, Roberta Terrana, Adriano Egidio Radaelli, Donata Calò, Giuseppe Mingoia, Antonella Rossetti, Giovanni Marsico, Marco Mazza, Giovanni Pietro Gesu, Maria Cristina Patrosso, Silvana Penco, Elena Piozzi, Paola Primignani
Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1). Our purpose was to detect mutations and genetic frequencies of the main causative genes, offering to albino patients an exhaustive diagnostic assessment within a multidisciplinary approach including ophthalmological, dermatological, audiological and genetic evaluations...
October 13, 2016: Journal of Human Genetics
V Lebese, C Aldous, H L Malherbe
BACKGROUND: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES: To ascertain the effectiveness of the current national CD surveillance system and its implementation. METHOD: A descriptive, retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received, types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014...
September 5, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Elisabetta De Filippo, Anke C Schiedel, Prashiela Manga
Developmental eye defects in X-linked Ocular Albinism type I (OA1) are caused by G-Protein Coupled Receptor 143 (GPR143) mutations. Mutations result in dysfunctional melanosome biogenesis and macromelanosome formation in pigment cells, including melanocytes and retinal pigment epithelium. GPR143, primarily expressed in pigment cells, localizes exclusively to endolysosomal and melanosomal membranes unlike most GPCRs, which localize to the plasma membrane. There is some debate regarding GPR143 function and elucidating the role of this receptor may be instrumental for understanding neurogenesis during eye development and for devising therapies for OA1...
October 6, 2016: Journal of Investigative Dermatology
Melanie Kolditz, Thivaharan Albin, Dirk Abel, Alessandro Fasse, Gert-Peter Brüggemann, Kirsten Albracht
BACKGROUND AND OBJECTIVE: Effective leg extension training at a leg press requires high forces, which need to be controlled to avoid training-induced damage. In order to avoid high external knee adduction moments, which are one reason for unphysiological loadings on knee joint structures, both training movements and the whole reaction force vector need to be observed. In this study, the applicability of lateral and medial changes in foot orientation and position as possible manipulated variables to control external knee adduction moments is investigated...
September 27, 2016: Computer Methods and Programs in Biomedicine
J J Xue, J F Xue, H Q Xue, Y Y Guo, Y Liu, N Ouyang
Albinism is a diverse group of hypopigmentary disorders caused by multiple-genetic defects. The genetic diagnosis of patients affected with albinism by Sanger sequencing is often complex, expensive, and time-consuming. In this study, we performed targeted next-generation sequencing to screen for 16 genes in a patient with albinism, and identified 21 genetic variants, including 19 known single nucleotide polymorphisms, one novel missense mutation (c.1456 G>A), and one disease-causing mutation (c.478 G>C)...
September 19, 2016: Genetics and Molecular Research: GMR
Fan Zhu, Bharat Panwar, Hiroko H Dodge, Hongdong Li, Benjamin M Hampstead, Roger L Albin, Henry L Paulson, Yuanfang Guan
We present COMPASS, a COmputational Model to Predict the development of Alzheimer's diSease Spectrum, to model Alzheimer's disease (AD) progression. This was the best-performing method in recent crowdsourcing benchmark study, DREAM Alzheimer's Disease Big Data challenge to predict changes in Mini-Mental State Examination (MMSE) scores over 24-months using standardized data. In the present study, we conducted three additional analyses beyond the DREAM challenge question to improve the clinical contribution of our approach, including: (1) adding pre-validated baseline cognitive composite scores of ADNI-MEM and ADNI-EF, (2) identifying subjects with significant declines in MMSE scores, and (3) incorporating SNPs of top 10 genes connected to APOE identified from functional-relationship network...
October 5, 2016: Scientific Reports
Vincent Galand, Dominique Pavin, Nathalie Behar, Vincent Auffret, Damien Fénéon, Albin Behaghel, Jean-Claude Daubert, Philippe Mabo, Raphaël P Martins
BACKGROUND: Pulmonary vein (PV) isolation, using cryoballoon or radiofrequency ablation, is the cornerstone therapy for symptomatic paroxysmal atrial fibrillation (AF) refractory to antiarrhythmic drugs. One-third of the patients have recurrences, mainly due to PV reconnections. AIMS: To describe the different locations of reconnection sites in patients who had previously undergone radiofrequency or cryoballoon ablation, and to compare the characteristics of the redo procedures in both instances...
September 28, 2016: Archives of Cardiovascular Diseases
Tianzhi Chen, Haidong Wang, Yu Liu, Bingling Zhao, Yuanyuan Zhao, Ruiwen Fan, Pengchao Wang, Changsheng Dong
To investigate whether ocular albinism type 1 (OA1) is differentially expressed in the skin of mice with different coat colors and to determine its correlation with coat color establishment in mouse, the expression patterns and tissue distribution characterization of OA1 in the skin of mice with different coat colors were qualitatively and quantitatively analyzed by real-time quantitative PCR (qRT-PCR), immunofluorescence staining and Western blot. The qRT-PCR analysis revealed that OA1 mRNA was expressed in all mice skin samples tested, with the highest expression level in brown skin, a moderate expression level in black skin and the lowest expression level in gray skin...
2016: International Journal of Molecular Sciences
Achikam Haim, Dominic Julian, Christopher Albin-Brooks, Holly M Brothers, Kathryn M Lenz, Benedetta Leuner
During pregnancy and the postpartum period, the adult female brain is remarkably plastic exhibiting modifications of neurons, astrocytes and oligodendrocytes. However, little is known about how microglia, the brain's innate immune cells, are altered during this time. In the current studies, microglial density, number and morphological phenotype were analyzed within multiple regions of the maternal brain that are known to show neural plasticity during the peripartum period and/or regulate peripartum behavioral changes...
September 26, 2016: Brain, Behavior, and Immunity
José L Sánchez-Vicente, Miguel Contreras-Díaz, Laura Llerena-Manzorro, Trinidad Rueda, Fernando López-Herrero, Fredy E Molina-Socola, Ana Muñoz-Morales, Enrique Rodríguez de la Rúa-Franch
PURPOSE: To describe the clinical presentations and image findings of a patient with foveal hypoplasia. METHODS: Observational case report of one patient. The clinical presentation of the patient was documented by fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography. RESULTS: A 55-year-old healthy white female with bilateral foveal hypoplasia without nystagmus was presented. There were no signs suggestive of ocular albinism...
September 28, 2016: Retinal Cases & Brief Reports
Thomas Welton, Sarim Ather, Frank A Proudlock, Irene Gottlob, Robert A Dineen
Albinism is a group of congenital disorders of the melanin synthesis pathway. Multiple ocular, white matter and cortical abnormalities occur in albinism, including a greater decussation of nerve fibres at the optic chiasm, foveal hypoplasia and nystagmus. Despite this, visual perception is largely preserved. It was proposed that this may be attributable to reorganisation among cerebral networks, including an increased interhemispheric connectivity of the primary visual areas. A graph-theoretic model was applied to explore brain connectivity networks derived from resting-state functional and diffusion-tensor magnetic resonance imaging data in 23 people with albinism and 20 controls...
September 29, 2016: Human Brain Mapping
J R Anusha, Albin T Fleming, M Valan Arasu, Byung Chul Kim, Naif Abdullah Al-Dhabi, Kook-Hyun Yu, C Justin Raj
The present work focused on the synthesis of β-chitosan submicron particles (CSPs) from Todarodes pacificus using mechanochemical techniques. The gladius was submitted to a sequence of mechanical and chemical treatments to synthesize β-chitin (CT), which was further deacetylated to form spherical chitosan submicron particles with an average diameter of ⩽100 nm. The surface morphology of β-chitin and CSPs was observed using electron microscopy. The degree of deacetylation (DD%), evaluated from the absorbance peak of a Fourier Transform Infrared (FTIR) spectrum, was 80 ± 2...
November 2016: Journal of Advanced Research
Ingrid Vasconcellos Faber, Joana Rosa Marques Prota, Alberto Rolim Muro Martinez, Anamarli Nucci, Iscia Lopes-Cendes, Marcondes Cavalcante França Júnior
INTRODUCTION: Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations. METHODS: We describe clinical, laboratory, electrophysiological, and genetic findings of a patient who developed an immune-mediated demyelinating neuropathy as the main clinical feature of CHS. RESULTS: The patient presented with subacute flaccid paraparesis, absent reflexes, and reduced vibration sense...
September 26, 2016: Muscle & Nerve
Caitlin Nosanov Winsor, Ann M Holleschau, John E Connett, C Gail Summers
PURPOSE: Reports of best-corrected visual acuity (BCVA) in albinism are often based on overlapping clinical phenotypes. BCVA in albinism has been shown to improve with age. This study reports a large cross-sectional investigation to determine whether BCVA differs by specific type of albinism when age-corrected. METHODS: This retrospective review identified 170 individuals with a specific type of albinism identified by mutation(s) in a gene known to cause albinism (for OCA1, OCA2, and Hermansky-Pudlak syndrome ([HPS]) or a specific phenotype (white hair and no melanin pigment in OCA1A; pigmentary mosaicism in the obligate carriers for males with OA1)...
September 16, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Kevin J O'Brien, Jay Lozier, Andrew R Cullinane, Brigitte Osorio, Khanh Nghiem, Vladislav Speransky, Wadih M Zein, James C Mullikin, Anne T Neff, Karen L Simon, May Christine V Malicdan, William A Gahl, Lisa R Young, Bernadette R Gochuico
PURPOSE: Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report a novel mutation in HPS6 in a Caucasian man with hemophilia B and oculocutaneous albinism. RESULTS: The patient was diagnosed with hemophilia B at age 4months due to recurrent soft tissue bleeding episodes, and he was also diagnosed with Hermansky-Pudlak syndrome at 32years of age due to unexplained oculocutaneous albinism...
September 3, 2016: Molecular Genetics and Metabolism
S J Lubbe, V Escott-Price, A Brice, T Gasser, A M Pittman, J Bras, J Hardy, P Heutink, N M Wood, A B Singleton, D G Grosset, C B Carroll, M H Law, F Demenais, M M Iles, D T Bishop, J Newton-Bishop, N M Williams, H R Morris
A shared genetic susceptibility between cutaneous malignant melanoma (CMM) and Parkinson's disease (PD) has been suggested. We investigated this by assessing the contribution of rare variants in genes involved in CMM to PD risk. We studied rare variation across 29 CMM risk genes using high-quality genotype data in 6875 PD cases and 6065 controls and sought to replicate findings using whole-exome sequencing data from a second independent cohort totaling 1255 PD cases and 473 controls. No statistically significant enrichment of rare variants across all genes, per gene, or for any individual variant was detected in either cohort...
July 28, 2016: Neurobiology of Aging
Vikas Kotagal, Christina Lineback, Nicolaas I Bohnen, Roger L Albin
BACKGROUND: Orthostatic hypotension is increasingly reported as a risk factor for development of late-stage disease features in Parkinson disease (PD). Less is known about its significance in individuals with early PD who are often targeted for neuroprotective trials. METHODS: Using data from the CALM-PD trial (n = 275), we explored whether early orthostatic hypotension predicts a decline in the Unified Parkinson's Disease Rating Scale (UPDRS) II (activities of daily living) or UDPRS III (motor) score after 102 weeks...
September 9, 2016: Parkinsonism & related Disorders
Marie Abitbol, Philippe Bossé, Bénédicte Grimard, Lionel Martignat, Laurent Tiret
No abstract text is available yet for this article.
September 15, 2016: Animal Genetics
Ivana Roth-Albin, Safiah H C Mai, Zeeshan Ahmed, Ji Cheng, Karen Choong, Perry V Mayer
OBJECTIVES: Data concerning outcomes of Canadian patients with diabetic foot ulcers (DFUs) are limited. The objectives of this study were to evaluate the healing rates and identify the predictors of poor outcomes following advanced wound care in patients presenting with DFUs. METHODS: We conducted retrospective cohort study of adult patients who had DFUs and were referred to a single Canadian advanced diabetic foot and wound care centre between January 1, 2010, and December 31, 2010...
September 12, 2016: Canadian Journal of Diabetes
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