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https://www.readbyqxmd.com/read/28228381/low-intensity-pulsed-ultrasound-lipus-for-bone-healing-a-clinical-practice-guideline
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28208387/network-clustering-and-community-detection-using-modulus-of-families-of-loops
#5
Heman Shakeri, Pietro Poggi-Corradini, Nathan Albin, Caterina Scoglio
We study the structure of loops in networks using the notion of modulus of loop families. We introduce an alternate measure of network clustering by quantifying the richness of families of (simple) loops. Modulus tries to minimize the expected overlap among loops by spreading the expected link usage optimally. We propose weighting networks using these expected link usages to improve classical community detection algorithms. We show that the proposed method enhances the performance of certain algorithms, such as spectral partitioning and modularity maximization heuristics, on standard benchmarks...
January 2017: Physical Review. E
https://www.readbyqxmd.com/read/28204987/the-effects-of-topical-carbonic-anhydrase-inhibitor-in-treatment-of-nystagmus
#6
Ebru Demet Aygit, Osman Bulut Ocak, Aslı İnal, Korhan Fazıl, Serpil Akar, Birsen Gokyigit
OBJECTIVE: To evaluate the effects of topical carbonic anhydrase inhibitor (CAI), brinzolamide (Azopt), for treatment of nystagmus patients. MATERIALS AND METHODS: Patients who used Brinzolamide for treatment of nystagmus were retrospectively analyzed. 23 patients were included in this study. The patients' diagnosis were idiopathic infantile nystagmus 18 (78.2%) and oculocutaneous albinism in 5 (21.8%). Azopt eye drop was used in both eyes, 3 times a day. Detailed eye examination in all of the patients before treatment and repeated at the end of the first week after treatment...
February 15, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28192564/a-japanese-family-with-autosomal-dominant-oculocutaneous-albinism-type-4
#7
Ryoko Oki, Kisaburo Yamada, Satoko Nakano, Kenichi Kimoto, Ken Yamamoto, Hiroyuki Kondo, Toshiaki Kubota
Purpose: We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. Methods: A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. DNA was extracted from 17 family members and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28186599/-diagnosis-of-a-case-with-oculocutaneous-albinism-type-%C3%A2-with-next-generation-exome-capture-sequencing
#8
Yuqiang Lyu, Jing Huang, Kaihui Zhang, Guohua Liu, Min Gao, Zhongtao Gai, Yi Liu
OBJECTIVE: To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism. METHODS: The clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation exome capture sequencing. The nature and impact of detected mutation were predicted and validated. RESULTS: The child has displayed strabismus, poor vision, nystagmus and brown hair. DNA sequencing showed that the patient has carried compound heterozygous mutations of the TYRP1 gene, namely c...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28185149/advances-and-trends-in-advanced-oxidation-processes
#9
EDITORIAL
Dionissios Mantzavinos, Ioannis Poulios, Albin Pintar
No abstract text is available yet for this article.
January 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28183060/toxic-and-endocrine-disrupting-effects-of-wastewater-treatment-plant-influents-and-effluents-on-a-freshwater-isopod-asellus-aquaticus-isopoda-crustacea
#10
Maja Plahuta, Tatjana Tišler, Mihael Jožef Toman, Albin Pintar
In the present study a biological "in vivo" assay, with freshwater isopod Asellus aquaticus, was used to define and evaluate the potential impact of the wastewater treatment plant (WWTP) wastewaters on local wildlife. Samples of both untreated and mechanically and biologically treated WWTP wastewater, were tested in the presence and absence of the formulated sediment for their lethal and sublethal effects. Chronic exposures to wastewater samples caused concentration dependent reduced locomotion, body pigmentation and molting frequency in exposed organisms...
January 31, 2017: Chemosphere
https://www.readbyqxmd.com/read/28181849/european-interprofessional-education-network-conference-nijmegen-the-netherlands-bridging-education-and-practice
#11
Nynke Scherpbier-de Haan, Albine Moser, Wietske Kuijer-Siebelink
No abstract text is available yet for this article.
March 2017: Journal of Interprofessional Care
https://www.readbyqxmd.com/read/28177849/the-clinical-evaluation-of-infantile-nystagmus-what-to-do-first-and-why
#12
Morgan Bertsch, Michael Floyd, Taylor Kehoe, Wanda Pfeifer, Arlene V Drack
INTRODUCTION: Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm. METHODS: Retrospective chart review. Exclusion criteria were no nystagmus, acquired after 6 months, or lack of examination. DATA COLLECTED: pediatric eye examination findings, ancillary testing, order of testing, referral, and final diagnoses. Final diagnosis was defined as meeting published clinical criteria and/or confirmed by diagnostic testing...
January 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28170433/cellular-and-ultrastructural-characterization-of-the-grey-morph-phenotype-in-southern-right-whales-eubalaena-australis
#13
Guy D Eroh, Fred C Clayton, Scott R Florell, Pamela B Cassidy, Andrea Chirife, Carina F Marón, Luciano O Valenzuela, Michael S Campbell, Jon Seger, Victoria J Rowntree, Sancy A Leachman
Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black skin with white patches on their bellies and occasionally on their backs; these patches remain white as the whale ages. Grey morphs (previously referred to as partial albinos) appear mostly white at birth, with a splattering of rounded black marks; but as the whales age, the white skin gradually changes to a brownish grey color. The cellular and developmental bases of grey morphism are not understood...
2017: PloS One
https://www.readbyqxmd.com/read/28145517/whole-genome-sequencing-identifies-novel-compound-heterozygous-lysosomal-trafficking-regulator-gene-mutations-associated-with-autosomal-recessive-chediak-higashi-syndrome
#14
Yaqiong Jin, Li Zhang, Senfen Wang, Feng Chen, Yang Gu, Enyu Hong, Yongbo Yu, Xin Ni, Yongli Guo, Tieliu Shi, Zigang Xu
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by varying degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. This syndrome is molecularly characterized by pathognomonic mutations in the LYST (lysosomal trafficking regulator). Using whole genome sequencing (WGS) we attempted to identify novel mutations of CHS based on a family of CHS with atypical symptoms. The two patients demonstrated a phenotypic constellation including partial oculocutaneous albinism, frequency upper respiratory infection or a marginal intelligence, without bleeding tendency and severe immunodeficiency...
February 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28144890/progressive-retinal-degeneration-in-a-girl-with-knobloch-syndrome-who-presented-with-signs-of-ocular-albinism
#15
Libe Gradstein, Ronald M Hansen, Gerald F Cox, Pablo Altschwager, Anne B Fulton
PURPOSE: We report for the first time electroretinographic (ERG) evidence of progressive retinal abnormalities in a girl who presented in infancy with ocular features of albinism and gradually developed choroidal sclerosis and patchy retinal atrophy leading to a diagnosis of Knobloch syndrome (KS, OMIM 267750, COL18A1). METHODS: At age 2 months, nystagmus and esotropia prompted ophthalmic evaluation. The appearance of choroidal sclerosis and atrophic retinal patches led to further evaluation at age 8 years...
January 31, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28144619/two-complex-cases-of-hermansky-pudlak-syndrome-highlight-a-potential-biologic-explanation-for-an-associated-crohn-s-disease-phenotype
#16
M Anthony Sofia, Atsushi Sakuraba, David T Rubin
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a lack of dense granules in platelets. HPS types 1 and 4 are associated with a granulomatous enterocolitis that is phenotypically indistinguishable from Crohn's disease. We present two cases of HPS-associated Crohn's disease phenotype in which the patients were refractory to standard medical management. The pathophysiology of HPS is mediated by single-gene defects that alter endosome trafficking, and we hypothesize that this mechanism leads to the observed association with a CD phenotype...
2017: ACG Case Reports Journal
https://www.readbyqxmd.com/read/28134341/identification-and-characterization-of-a-plastidic-adenine-nucleotide-uniporter-osbt1-3-required-for-chloroplast-development-in-the-early-leaf-stage-of-rice
#17
Daoheng Hu, Yang Li, Wenbin Jin, Hanyu Gong, Qiong He, Yangsheng Li
Chloroplast development is an important subject in botany. In this study, a rice (Oryza sativa) mutant exhibiting impairment in early chloroplast development (seedling leaf albino (sla)) was isolated from a filial generation via hybridization breeding. The sla mutant seedlings have an aberrant form of chloroplasts, which resulted in albinism at the first and second leaves; however, the leaf sheath was green. The mutant gradually turned green after the two-leaf stage, and the third leaf was a normal shade of green...
January 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28121614/benefits-of-object-oriented-models-and-modelichart-modern-tools-and-methods-for-the-interdisciplinary-research-on-smart-biomedical-technology
#18
Jonas Gesenhues, Marc Hein, Maike Ketelhut, Moriz Habigt, Daniel Rüschen, Mare Mechelinck, Thivaharan Albin, Steffen Leonhardt, Thomas Schmitz-Rode, Rolf Rossaint, Rüdiger Autschbach, Dirk Abel
Computational models of biophysical systems generally constitute an essential component in the realization of smart biomedical technological applications. Typically, the development process of such models is characterized by a great extent of collaboration between different interdisciplinary parties. Furthermore, due to the fact that many underlying mechanisms and the necessary degree of abstraction of biophysical system models are unknown beforehand, the steps of the development process of the application are iteratively repeated when the model is refined...
January 25, 2017: Biomedizinische Technik. Biomedical Engineering
https://www.readbyqxmd.com/read/28121143/very-strong-binding-for-a-neutral-calix-4-pyrrole-receptor-displaying-positive-allosteric-binding
#19
Troels Duedal, Kent A Nielsen, Gunnar Olsen, Charlotte B G Rasmussen, Jacob Kongsted, Eric Levillain, Tony Breton, Eigo Miyazaki, Kazuo Takimiya, Steffen Bähring, Jan O Jeppesen
The dual-analyte responsive behavior of tetraTTF-calix[4]pyrrole receptor 1 has been shown to complex electron-deficient planar guests in a 2:1 fashion by adopting a so-called 1,3-alternate conformation. However, stronger 1:1 complexes have been demonstrated with tetraalkylammonium halide salts that defer receptor 1 to its cone conformation. Herein, we report the complexation of an electron-deficient planar guest, 1,4,5,8-naphthalenetetracarboxylic dianhydride (NTCDA, 2) that champions the complexation with 1, resulting in a high association constant Ka = 3 × 10(10) M(-2)...
February 7, 2017: Journal of Organic Chemistry
https://www.readbyqxmd.com/read/28119086/two-types-of-albino-mutants-in-desert-and-migratory-locusts-are-caused-by-gene-defects-in-the-same-signaling-pathway
#20
Ryohei Sugahara, Seiji Tanaka, Akiya Jouraku, Takahiro Shiotsuki
Albinism is caused by mutations in the genes involved in melanin production. Albino nymphs of Locusta migratoria and Schistocerca gregaria reared under crowded conditions are uniformly creamy-white in color. However, nothing is known about the molecular mechanisms underlying this phenomenon in locusts. The albino strain of L. migratoria is known to lack the dark-color-inducing neuropeptide corazonin (Crz). In this study, we report that this albino strain has a 10-base-pair deletion in the gene LmCRZ, which encodes Crz...
January 21, 2017: Gene
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