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https://www.readbyqxmd.com/read/28339057/gpr143-mutations-in-chinese-patients-with-ocular-albinism-type-1
#1
Xiuhua Jia, Jin Yuan, Xiaoyun Jia, Shiqi Ling, Shiqiang Li, Xiangming Guo
The aim of the present study was to evaluate mutations of the G protein-coupled receptor 143 (GPR143) gene for ocular albinism type 1 (OA1) in Chinese patients. For the current study, 8 patients with OA1 were selected from the database of ocular genetic diseases. Genomic DNA of OA1 was prepared from venous leukocytes collected from the patients. Cycle sequencing was used to analyze the exons and adjacent introns of GPR143. The variation detected was analyzed by bidirectional DNA sequencing and further evaluated in 96 controls using heteroduplex‑single strand conformational polymorphism analysis...
March 23, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28333861/vouchers-for-future-kidney-transplants-to-overcome-chronological-incompatibility-between-living-donors-and-recipients
#2
Jeffrey L Veale, Alexander M Capron, Nima Nassiri, Gabriel Danovitch, H Albin Gritsch, Amy Waterman, Joseph Del Pizzo, Jim C Hu, Marek Pycia, Suzanne McGuire, Marian Charlton, Sandip Kapur
BACKGROUND: The waiting list for kidney transplantation is long and growing. The creation of "vouchers" for future kidney transplants enables living donation to occur when optimal for the donor and transplantation to occur later, when and if needed by the recipient. METHODS: The donation of a kidney at a time that is optimal for the donor generates a 'voucher' that only a specified recipient may redeem later when needed. The voucher provides the recipient with priority in being matched with a living donor from the end of a future transplantation chain...
March 22, 2017: Transplantation
https://www.readbyqxmd.com/read/28330969/influence-of-the-coronary-circulation-on-thermal-tolerance-and-cardiac-performance-during-warming-in-rainbow-trout
#3
Andreas Ekström, Michael Axelsson, Albin Gräns, Jeroen Brijs, Erik Sandblom
Thermal tolerance in fish may be related to an oxygen limitation of cardiac function. While the hearts of some fish species receive oxygenated blood via a coronary circulation, the influence of this oxygen supply on thermal tolerance and cardiac performance during warming remain unexplored. Here, we analyzed the effect in vivo of acute warming on coronary blood flow in adult sexually mature rainbow trout (Onchorhynchus mykiss), and the consequences of chronic coronary ligation on cardiac function and thermal tolerance in juvenile trout...
February 22, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28330741/intermediate-steroid-withdrawal-after-renal-transplantation-and-anti-hla-antibodies-hla-abs-development
#4
Elena Monfá, David San Segundo, Juan Carlos Ruiz San Millán, Judith Sanabria, Zoila Albines, Emilio Rodrigo, Iñigo Romón, Esther Asensio, Manuel Arias, Marcos López-Hoyos
INTRODUCTION: Steroid withdrawal in renal transplantation is desirable to avoid their adverse effects. However, by decreasing the immunosuppression, could lead to an increased risk for the development of HLA-Abs. OBJECTIVE: Evaluate the relationship between steroid withdrawal and development of HLA-Abs in renal transplantation. METHODS: We analyzed sera by Luminex from 182 kidney transplants performed from 1998 to 2011, before and two years after transplantation...
March 19, 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28321442/improved-electron-hole-separation-and-migration-in-anatase-tio2-nanorod-reduced-graphene-oxide-composites-and-their-influence-on-photocatalytic-performance
#5
Gregor Žerjav, Muhammad Shahid Arshad, Petar Djinović, Ita Junkar, Janez Kovač, Janez Zavašnik, Albin Pintar
The as-synthesized TiO2 nanorods a-TNR (amorphous TiO2 layer covering the crystalline anatase TiO2 core) and TNR (fully crystalline anatase TiO2) were decorated with reduced graphene oxide (rGO) to synthesize two series of TiO2 + rGO composites with different nominal loadings of GO (from 4 to 20 wt%). The structural, surface and electronic properties of the obtained TiO2 + rGO composites were analyzed and correlated to their performance in the photocatalytic oxidation of aqueous bisphenol A solution. X-ray photoelectron spectroscopy (XPS) analyses revealed that charge separation in TiO2 + rGO composites is improved due to the perfect matching of TiO2 and rGO valence band maxima (VBM)...
March 21, 2017: Nanoscale
https://www.readbyqxmd.com/read/28299591/dealing-with-the-other-between-the-ethical-and-the-moral-albinism-on-the-african-continent
#6
Elvis Imafidon
Albinism is a global public health issue but it assumes a peculiar nature in the African continent due, in part, to the social stigma faced by persons with albinism (PWAs) in Africa. I argue that there are two essential reasons for this precarious situation. First, in the African consciousness, albinism is an alterity or otherness. The PWA in Africa is not merely a physical other but also an ontological other in the African community of beings, which provides a hermeneutic for the stigmatising separateness or difference of the PWA...
March 15, 2017: Theoretical Medicine and Bioethics
https://www.readbyqxmd.com/read/28298193/identification-of-two-novel-mutations-in-the-slc45a2-gene-in-a-hungarian-pedigree-affected-by-unusual-oca-type-4
#7
Lola Tóth, Beáta Fábos, Katalin Farkas, Adrienn Sulák, Kornélia Tripolszki, Márta Széll, Nikoletta Nagy
BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities. OCA type IV (OCA4, OMIM 606574) develops due to homozygous or compound heterozygous mutations in the solute carrier family 45, member 2 (SLC45A2) gene. This gene encodes a membrane-associated transport protein, which regulates tyrosinase activity and, thus, melanin content by changing melanosomal pH and disrupting the incorporation of copper into tyrosinase. METHODS: Here we report two Hungarian siblings affected by an unusual OCA4 phenotype...
March 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28296950/cellular-and-molecular-defects-in-a-patient-with-hermansky-pudlak-syndrome-type-5
#8
Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organelle Complexes (BLOCs), which are groups of proteins that function together in the formation and/or trafficking of lysosomal-related endosomal compartments. BLOC-2, for example, consists of the proteins HPS3, HPS5, and HPS6...
2017: PloS One
https://www.readbyqxmd.com/read/28289846/a-deletion-in-the-hermansky-pudlak-syndrome-4-hps4-gene-appears-to-be-responsible-for-albinism-in-channel-catfish
#9
Yueru Li, Xin Geng, Lisui Bao, Ahmed Elaswad, Kevin W Huggins, Rex Dunham, Zhanjiang Liu
Albinism is caused by a series of genetic abnormalities leading to reduction of melanin production. Albinism is quite frequent in catfish, but the causative gene and the molecular basis were unknown. In this study, we conducted a genome-wide association study (GWAS) using the 250 K SNP array. The GWAS analysis allowed mapping of the albino phenotype in the Hermansky-Pudlak syndrome 4 (Hps4) gene, which is known to be involved in melanosome biosynthesis. Sequencing analysis revealed that a 99-bp deletion was present in all analyzed albino catfish at the intron 2 and exon 3 junction...
March 13, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28284561/novel-mutation-in-two-brothers-with-hermansky-pudlak-syndrome-type-3
#10
Kirstin Sandrock-Lang, Ingrid Bartsch, Nina Buechele, Udo Koehler, Carl Philipp Simon-Gabriel, Matthias Eckenweiler, Barbara Zieger
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS patients are characterized by impaired secretion of dense (δ)-bodies (CD63). Meanwhile, there are ten known human HPS genes, each leading to a particular clinical HPS subtype (HPS1-HPS10). We report on two Turkish brothers showing typical HPS phenotype comprising oculocutaneous albinism and bleeding symptoms. Pathological bleeding time as well as platelet aggregometry analyses revealed impaired platelet function...
March 6, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28274239/occupational-exposure-to-particles-and-mitochondrial-dna-relevance-for-blood-pressure
#11
Yiyi Xu, Huiqi Li, Maria Hedmer, Mohammad Bakhtiar Hossain, Håkan Tinnerberg, Karin Broberg, Maria Albin
BACKGROUND: Particle exposure is a risk factor for cardiovascular diseases. Mitochondrial DNA (mtDNA) is a primary target for oxidative stress generated by particle exposure. We aimed to elucidate the effects of occupational exposure to particle-containing welding fumes on different biomarkers of mtDNA function, and in turn, explore if they modify the association between particle exposure and cardiovascular response, measured as blood pressure. METHODS: We investigated 101 welders and 127 controls (all non-smoking males) from southern Sweden...
March 9, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28266639/molecular-outcomes-clinical-consequences-and-genetic-diagnosis-of-oculocutaneous-albinism-in-pakistani-population
#12
Mohsin Shahzad, Sairah Yousaf, Yar M Waryah, Hadia Gul, Tasleem Kausar, Nabeela Tariq, Umair Mahmood, Muhammad Ali, Muzammil A Khan, Ali M Waryah, Rehan S Shaikh, Saima Riazuddin, Zubair M Ahmed
Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in the skin, hair, and iris. OCA is amongst the most common causes of vision impairment in children. To date, pathogenic variants in six genes have been identified in individuals with nsOCA. Here, we determined the identities, frequencies, and clinical consequences of OCA alleles in 94 previously unreported Pakistani families. Combination of Sanger and Exome sequencing revealed 38 alleles, including 22 novel variants, segregating with nsOCA phenotype in 80 families...
March 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28259707/clinical-and-molecular-phenotyping-of-a-child-with-hermansky-pudlak-syndrome-7-an-uncommon-genetic-type-of-hps
#13
Melanie M Bryan, Nathanial J Tolman, Karen L Simon, Marjan Huizing, Robert B Hufnagel, Brian P Brooks, Vladislav Speransky, James C Mullikin, William A Gahl, May Christine V Malicdan, Bernadette R Gochuico
PURPOSE: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex or Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, -2, or -3. Very few patients with BLOC-1 deficiency (HPS-7, -8, and -9 types) have been diagnosed. We report results of comprehensive clinical testing and molecular analyses of primary fibroblasts from a new case of HPS-7. RESULTS: A 6-year old Paraguayan male presented with hypopigmentation, ocular albinism, nystagmus, reduced visual acuity, and easy bruising...
February 27, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28256490/retinal-imaging-with-smartphone
#14
D S Ademola-Popoola, V A Olatunji
BACKGROUND: The use of smartphones for various purposes among health professionals is increasing, especially with the availability of different applications. On account of cost, fundus cameras are not readily available in ophthalmic practice in developing countries. Since smartphones are readily available, easy to use and portable, they may present a cheap alternative in a resource-limited economy. AIM AND OBJECTIVES: to explore the use of smartphone (Blackberry Z-10) for retinal imaging in a resource-limited economy...
March 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28245096/triple-reassortant-influenza-a-virus-with-h3-of-human-seasonal-origin-na-of-swine-origin-and-internal-a-h1n1-pandemic-2009-genes-is-established-in-danish-pigs
#15
Jesper Schak Schak Krog, Charlotte Kristiane Hjulsager, Michael Albin Larsen, Lars Erik Larsen
The present report describe a triple-reassortant influenza A virus with a HA that resembles H3 of human seasonal influenza from 2004/2005, N2 from influenza A virus already established in swine and the internal gene cassette from A(H1N1)pdm09, has spread in Danish pig herds. The virus has been detected in several Danish pig herds during the last two-three years and may possess a challenge for human as well as animal health.
February 28, 2017: Influenza and Other Respiratory Viruses
https://www.readbyqxmd.com/read/28243493/proposal-for-management-and-dermoscopy-follow-up-of-nevi-in-patients-affected-by-oculocutaneous-albinism-type-ia
#16
Rosario Peralta, Emilia Cohen Sabban, Paula Friedman, Carolina Marcucci, Luis A Bollea Garlatti, Gastón Galimberti, Horacio Cabo
Albino patients are at great risk for developing cutaneous neoplasms, including melanomas. In this paper we describe the dermatoscopic findings of nevi in two patients with oculocutaneous albinism type Ia (OCA-Ia) highlighting that they manifest a vascular pattern similar to that described for amelanotic melanoma. We propose managing these patients with dermoscopy, using the comparative approach, digital follow up (DFU), and reflectance confocal microscopy as a complementary tool for difficult cases.
January 2017: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/28228381/low-intensity-pulsed-ultrasound-lipus-for-bone-healing-a-clinical-practice-guideline
#17
Rudolf W Poolman, Thomas Agoritsas, Reed A C Siemieniuk, Ian A Harris, Inger B Schipper, Brent Mollon, Maureen Smith, Alexandra Albin, Sally Nador, Will Sasges, Stefan Schandelmaier, Lyubov Lytvyn, Ton Kuijpers, Loes W A H van Beers, Michael H J Verhofstad, Per Olav Vandvik
No abstract text is available yet for this article.
February 21, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28224046/eighth-international-chorea-acanthocytosis-symposium-summary-of-workshop-discussion-and-action-points
#18
Samuel S Pappas, Juan Bonifacino, Adrian Danek, William T Dauer, Mithu De, Lucia De Franceschi, Gilbert DiPaolo, Robert Fuller, Volker Haucke, Andreas Hermann, Benoit Kornmann, Bernhard Landwehrmeyer, Johannes Levin, Aaron M Neiman, Dobrila D Rudnicki, Ody Sibon, Antonio Velayos-Baeza, Jan J Vonk, Ruth H Walker, Lois S Weisman, Roger L Albin
Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis). The Eighth International Chorea-Acanthocytosis Symposium was held in May 2016 in Ann Arbor, MI, USA, and focused on molecular mechanisms driving ChAc pathophysiology. Accompanying the meeting, members of the neuroacanthocytosis research community and other invited scientists met in a workshop to discuss the current understanding and next steps needed to better understand ChAc pathogenesis...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28218459/what-would-dr-james-parkinson-think-today-ii-neuroimaging-in-parkinson-s-disease
#19
Roger L Albin
No abstract text is available yet for this article.
February 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28211458/molecular-genetic-and-clinical-evaluation-of-three-chinese-families-with-x-linked-ocular-albinism
#20
Xuan Zou, Hui Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Huajin Li, Ruifang Sui
X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three novel mutations, c.333_360+14del42insCTT, c.276G>A (p.W92X), and c.793C>T (p.R265X), were identified in GPR143 by PCR followed by Sanger sequencing in these families. All affected individuals presented with nystagmus, photophobia, poor visual acuity, foveal hypoplasia and varying degrees of hypopigmentation of the fundus...
February 17, 2017: Scientific Reports
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