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https://www.readbyqxmd.com/read/29677220/hiv-1-adaptation-studies-reveal-a-novel-env-mediated-homeostasis-mechanism-for-evading-lethal-hypermutation-by-apobec3g
#1
Terumasa Ikeda, Menelaos Symeonides, John S Albin, Ming Li, Markus Thali, Reuben S Harris
HIV-1 replication normally requires Vif-mediated neutralization of APOBEC3 antiviral enzymes. Viruses lacking Vif succumb to deamination-dependent and -independent restriction processes. Here, HIV-1 adaptation studies were leveraged to ask whether viruses with an irreparable vif deletion could develop resistance to restrictive levels of APOBEC3G. Several resistant viruses were recovered with multiple amino acid substitutions in Env, and these changes alone are sufficient to protect Vif-null viruses from APOBEC3G-dependent restriction in T cell lines...
April 20, 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29670325/retinal-detachment-in-albinism
#2
Ahmad M Mansour, Jay Chhablani, J Fernando Arevalo, Lihteh Wu, Ravi Sharma, Suthasinee Sinawat, Tharikarn Sujirakul, Alexandre Assi, Wandsy M Vélez-Vázquez, Mohamad A Mansour, Ozcan Kayikcioglu, Cem Kucukerdonmez, Ali Kal
Purpose: To report the visual and anatomic outcomes of albino retinal detachment (ARD) repair. Methods: Collaborative retrospective analysis of ARD. Outcome measures were number of surgical interventions, final retinal reattachment, and best corrected visual acuity (BCVA) at last follow-up. Results: Seventeen eyes of 16 patients (12 males; mean age =37.8 years) had the following complications at presentation: macula off (14), total (7) or inferior detachment (5), proliferative vitreoretinopathy (5), detectable break (16), lattice (5), horseshoe tears (9), and giant tear or dialysis (4)...
2018: Clinical Ophthalmology
https://www.readbyqxmd.com/read/29665066/serotonin-beta-amyloid-and-cognition-in-parkinson-disease
#3
Vikas Kotagal, Cathie Spino, Nicolaas I Bohnen, Robert A Koeppe, Roger L Albin
OBJECTIVE: Serotoninergic neurotransmission may modulate beta-amyloid peptide (Aβ) metabolism through up-regulation of alpha-secretase. Early Parkinson disease (PD) shows variable serotoninergic denervation, which may impact Aβ deposition. METHODS: We conducted three analyses to explore associations between serotoninergic neurotransmission and cerebral Aβ burden in PD. The first was a cross-sectional imaging study of PD subjects (n=23) using the serotoninergic transporter positron emission tomography (PET) ligand [11 C]DASB and amyloid PET Pittsburgh compound B ([11 C]PiB)...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29662299/clinical-characteristics-and-causes-of-visual-impairment-in-a-low-vision-clinic-in-northern-jordan
#4
May M Bakkar, Eman A Alzghoul, Mera F Haddad
Aim: The aim of the study was to identify causes of visual impairment among patients attending a low vision clinic in the north of Jordan and to study the relevant demographic characteristics of these patients. Subjects and methods: The retrospective study was conducted through a review of clinical records of 135 patients who attended a low vision clinic in Irbid. Clinical characteristics of the patients were collected, including age, gender, primary cause of low vision, best corrected visual acuity, and current prescribed low vision aids...
2018: Clinical Ophthalmology
https://www.readbyqxmd.com/read/29658579/identification-of-tyr-mutations-in-patients-with-oculocutaneous-albinism
#5
Wan Sun, Yanjie Shen, Shan Shan, Liyun Han, Yang Li, Zheng Zhou, Zilin Zhong, Jianjun Chen
Oculocutaneous albinism (OCA) is a set of autosomal recessive disorders characterized by hypopigmented hair, skin and eyes. Homozygous or compound heterozygous mutations in the tyrosinase (TYR) gene can cause OCA1, which is the most common and severe subtype of albinism. In the present study, 17 patients with non‑syndromic OCA were enrolled from eight provinces of China and were non‑consanguineous, with the exception of Patient 4000301. Total genomic DNA was isolated from peripheral blood. Screening was performed for the whole exons and their flanking regions of the TYR gene using Sanger sequencing and the pathogenicity of variants was predicted using in silico analysis...
April 13, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29652989/-analysis-of-clinical-characteristics-and-genetic-mutation-in-a-pedigree-affected-with-chediak-higashi-syndrome
#6
Jiangang Zhao, Zhi Wang, Liyu Zhang, Hongli Sun, Ying Yang
OBJECTIVE: To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS). METHODS: Clinical data of two CHS patients from the pedigree was collected and analyzed. Targeted next generation sequencing and Sanger sequencing were conducted to detect potential mutation of the LYST gene. RESULTS: Both patients presented immunodeficiency, oculocutaneous albinism, and acidophilic inclusion body on bone marrow and blood smears...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29643732/cutaneous-cancers-in-nigerian-albinos-a-review-of-22-cases
#7
Oluwafemi Olasupo Awe, Terence Akhator Azeke
Context: Albinism is an inherited disorder of hypopigmentation involving the skin, eyes, and hair. This disorder results in the absence or reduction in melanin production. There are two main types of albinism which are ocular albinism and oculocutaneous albinism. It could also be classified as syndromic or nonsyndromic the melanin, which protects from the harmful effect of ultraviolet radiation of the sun on the normal skin, is deficient in the albino, predisposing them more, to cutaneous malignancies...
January 2018: Nigerian Journal of Surgery: Official Publication of the Nigerian Surgical Research Society
https://www.readbyqxmd.com/read/29617955/duration-of-zika-viremia-in-serum
#8
Albin Fontaine, Franck de Laval, Didier Belleoud, Sébastien Briolant, Séverine Matheus
No abstract text is available yet for this article.
March 30, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29599975/exosomes-as-a-novel-pathway-for-regulating-development-and-diseases-of-the-skin
#9
Ying Liu, Haidong Wang, Juan Wang
Exosomes are one of the most potent intercellular communicators, which are able to communicate with adjacent or distant cells. Exosomes deliver various bioactive molecules, including membrane receptors, proteins, mRNA and microRNA, to target cells and serve roles. Recent studies have demonstrated that exosomes may regulate the functions and diseases of the skin, which is the largest organ of the human body. The abnormal functions of the skin lead to the progression of scleroderma, melanoma, baldness and other diseases...
March 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29593643/spontaneous-nystagmus-in-the-dark-in-an-infantile-nystagmus-patient-may-represent-negative-optokinetic-afternystagmus
#10
Ting-Feng Lin, Christina Gerth-Kahlert, James V M Hanson, Dominik Straumann, Melody Ying-Yu Huang
Abnormal projection of the optic nerves to the wrong cerebral hemisphere transforms the optokinetic system from its usual negative feedback loop to a positive feedback loop with characteristic ocular motor instabilities including directional reversal of the optokinetic nystagmus (OKN) and spontaneous nystagmus, which are common features of infantile nystagmus syndrome (INS). Visual input plays a critical role in INS linked to an underlying optic nerve misprojection such as that often seen in albinism. However, spontaneous nystagmus often continues in darkness, making the visual, sensory-driven etiology questionable...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29587765/occupational-exposure-to-asphalt-mixture-during-road-paving-is-related-to-increased-mitochondria-dna-copy-number-a-cross-sectional-study
#11
Yiyi Xu, Christian H Lindh, Bo A G Jönsson, Karin Broberg, Maria Albin
BACKGROUND: Asphalt workers are exposed to polyaromatic hydrocarbons (PAHs) from hot mix asphalt via both inhalation and dermal absorption. The use of crumb rubber modified (CRM) asphalt may result in higher exposure to PAHs and more adverse effects. Our aim is to assess occupational exposure to PAHs from conventional and CRM asphalt paving by measuring PAH metabolites in urine, and to investigate the effects on mitochondrial DNA copy number (mtDNAcn) and telomere length. METHODS: We recruited 116 workers paving conventional asphalt, 51 workers paving CRM asphalt and 100 controls in Sweden, all males...
March 27, 2018: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/29580292/hermansky-pudlak-syndrome-type-2-manifests-with-fibrosing-lung-disease-early-in-childhood
#12
Meike Hengst, Lutz Naehrlich, Poornima Mahavadi, Joerg Grosse-Onnebrink, Suzanne Terheggen-Lagro, Lars Høsøien Skanke, Luise A Schuch, Frank Brasch, Andreas Guenther, Simone Reu, Julia Ley-Zaporozhan, Matthias Griese
BACKGROUND: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce. METHODS: Six children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded...
March 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29555241/crispr-mutagenesis-confirms-the-role-of-oca2-in-melanin-pigmentation-in-astyanax-mexicanus
#13
Hannah Klaassen, Yongfu Wang, Kay Adamski, Nicolas Rohner, Johanna E Kowalko
Understanding the genetic basis of trait evolution is critical to identifying the mechanisms that generated the immense amount of diversity observable in the living world. However, genetically manipulating organisms from natural populations with evolutionary adaptations remains a significant challenge. Astyanax mexicanus, the blind Mexican cavefish, exists in two interfertile forms, a surface-dwelling form and multiple independently evolved cave-dwelling forms. Cavefish have evolved a number of morphological and behavioral traits and multiple quantitative trait loci (QTL) analyses have been performed to identify loci underlying these traits...
March 16, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29524626/altered-organization-of-the-visual-cortex-in-fhonda-syndrome
#14
REVIEW
Khazar Ahmadi, Alessio Fracasso, Jelle A van Dijk, Charlotte Kruijt, Maria van Genderen, Serge O Dumoulin, Michael B Hoffmann
A fundamental scheme in the organization of the early visual cortex is the retinotopic representation of the contralateral visual hemifield on each hemisphere. We determined the cortical organization in a novel congenital visual pathway disorder, FHONDA-syndrome, where the axons from the temporal retina abnormally cross to the contralateral hemisphere. Using ultra-high field fMRI at 7 T, the population receptive field (pRF) properties of the primary visual cortex were modeled for two affected individuals and two controls...
March 7, 2018: NeuroImage
https://www.readbyqxmd.com/read/29507659/lrp1-expression-in-colon-cancer-predicts-clinical-outcome
#15
Camille Boulagnon-Rombi, Christophe Schneider, Chloé Leandri, Albin Jeanne, Virginie Grybek, Aude Marchal Bressenot, Coralie Barbe, Benjamin Marquet, Saviz Nasri, Christelle Coquelet, Caroline Fichel, Nicole Bouland, Arnaud Bonnomet, Reza Kianmanesh, Anne-Sophie Lebre, Olivier Bouché, Marie-Danièle Diebold, Georges Bellon, Stéphane Dedieu
LRP1 (low-density lipoprotein receptor-related protein 1), a multifunctional endocytic receptor, has recently been identified as a hub within a biomarker network for multi-cancer clinical outcome prediction. As its role in colon cancer has not yet been characterized, we here investigate the relationship between LRP1 and outcome. Materials and Methods: LRP1 mRNA expression was determined in colon adenocarcinoma and paired colon mucosa samples, as well as in stromal and tumor cells obtained after laser capture microdissection...
February 6, 2018: Oncotarget
https://www.readbyqxmd.com/read/29501208/-precision-medicine-a-major-step-forward-in-specific-situations-a-myth-in-refractory-cancers
#16
REVIEW
Nicolas Albin, Anne Mc Leer, Linda Sakhri
In recent years, high-throughput sequencing techniques have been developed for cancerology and many clinical trials are currently structured around biomarkers that can guide specific treatment choices. This approach is characteristic of precision medicine, which is actually a concept initiated several decades ago with, for example, retinoic acid in promyelocytic leukemia. This paper will review the different types of molecular alterations and « -omics » biological analyses, bioinformatics tools, coupled drug/biomarkers already validated, the ethical issues of whole genomic sequencing of an individual as part of an inclusion in a clinical trial and finally the first results of precision medicine trials...
March 1, 2018: Bulletin du Cancer
https://www.readbyqxmd.com/read/29494619/shared-activity-patterns-arising-at-genetic-susceptibility-loci-reveal-underlying-genomic-and-cellular-architecture-of-human-disease
#17
J Kenneth Baillie, Andrew Bretherick, Christopher S Haley, Sara Clohisey, Alan Gray, Lucile P A Neyton, Jeffrey Barrett, Eli A Stahl, Albert Tenesa, Robin Andersson, J Ben Brown, Geoffrey J Faulkner, Marina Lizio, Ulf Schaefer, Carsten Daub, Masayoshi Itoh, Naoto Kondo, Timo Lassmann, Jun Kawai, Damian Mole, Vladimir B Bajic, Peter Heutink, Michael Rehli, Hideya Kawaji, Albin Sandelin, Harukazu Suzuki, Jack Satsangi, Christine A Wells, Nir Hacohen, Thomas C Freeman, Yoshihide Hayashizaki, Piero Carninci, Alistair R R Forrest, David A Hume
Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns of transcriptional activity. Accordingly, shared transcriptional activity (coexpression) may help prioritise loci associated with a given trait, and help to identify underlying biological processes. Using cap analysis of gene expression (CAGE) profiles of promoter- and enhancer-derived RNAs across 1824 human samples, we have analysed coexpression of RNAs originating from trait-associated regulatory regions using a novel quantitative method (network density analysis; NDA)...
March 1, 2018: PLoS Computational Biology
https://www.readbyqxmd.com/read/29481433/does-a-low-6-minute-walk-distance-predict-elevated-postoperative-troponin
#18
Anahat K Dhillon, Andrew A Disque, Christine T Nguyen-Buckley, Tristan R Grogan, Dana L Russell, H Albin Gritsch, Jacques P Neelankavil
Our study of 100 major vascular and renal transplant patients evaluated the 6-minute walk test (6MWT) as an indicator of perioperative myocardial injury, using troponin as a marker. Using logistic regression and the area under the receiving operator characteristic curve, we compared the 6MWT to the Revised Cardiac Risk Index and metabolic equivalents. Only the 6MWT was associated with elevated postoperative troponins (95% CI, 0.98-0.99). However, the 6MWT area under the receiving operator characteristic curve (0...
February 23, 2018: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29480230/cardiovascular-risk-factor-burden-in-veterans-and-non-veterans-with-parkinson-disease
#19
Vikas Kotagal, Roger L Albin, Martijn L T M Müller, Nicolaas I Bohnen
BACKGROUND: Medical comorbidities, including cardiovascular risk factors such as hypertension and diabetes, influence disease progression in Parkinson disease (PD) and may be variably present in different clinical populations. OBJECTIVE/METHODS: We conducted a retrospective nested case-control study of 29 Veterans with PD and 29 non-Veteran PD controls. The groups were matched for age, gender, and disease duration. Both groups underwent clinical and imaging testing as part of their participation in a larger cross-sectional PD observational study at our research center...
2018: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/29478707/how-to-strengthen-the-presence-of-patients-in-health-technology-assessments-conducted-by-the-health-authorities
#20
Marie-France Mamzer, Sophie Dubois, Christian Saout, Nicolas Albin, Jehan-Michel Béhier, Anne Buisson, Vincent Diebolt, Olivier Delaitre, Christophe Duguet, Jean-Yves Fagon, Ségolène Gaillard, Claire Le Jeunne, René Mazars, Joëlle Micallef, Hervé Nabarette, Laurent Piazza, Catherine Raynaud, Nathalie Varoqueaux
The constant development of health technologies, combined with the increase in the cost of treatment, means that States must continually make choices about the introduction of new technologies into their healthcare system and how they are to be funded. In France, the systematic participation of patients in these processes is one of the targets to be met in terms of healthcare democracy. Although, on an international level, patient involvement in these assessments is constantly growing, it is difficult to define due to the presence of unstabilised elements in terms of both terminology and assessment methods...
December 21, 2017: Thérapie
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