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https://www.readbyqxmd.com/read/27911035/content-validity-of-the-credibility-and-expectancy-questionnaire-in-a-pain-rehabilitation-setting
#1
Vera-Christina Mertens, Albine Moser, Jeanine Verbunt, Rob Smeets, Mariëlle Goossens
: Content validity, the proper reflection of the concept to be measured, is yet unknown for the Credibility and Expectancy Questionnaire (CEQ). It is frequently used in pain rehabilitation because treatment expectancy is influential on the outcome. OBJECTIVE: To test and improve the content validity of the CEQ in a sample of patients with chronic pain in different phases of their treatment. METHODS: A qualitative observational study design using the Three-Step Test-Interview method was used...
December 2, 2016: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/27910137/amelanotic-naevoid-melanoma-in-a-16-month-old-albino-infant
#2
N Knöpfel, A Martín-Santiago, L J Del Pozo, C Saus, M Pascual, L Requena
Melanoma in individuals with oculocutaneous albinism has been reported in the literature to be rare compared with the more common occurrence of squamous cell carcinoma and basal cell carcinoma. We present a singular case of amelanotic naevoid melanoma arising from a small congenital naevus in a 16-month old albino boy, the youngest reported to date.
December 2, 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27907266/retinal-axon-guidance-at-the-midline-chiasmatic-misrouting-and-consequences
#3
REVIEW
Delphine S Prieur, Alexandra Rebsam
The visual representation of the outside world relies on the appropriate connectivity between the eyes and the brain. Retinal ganglion cells are the sole neurons that send an axon from the retina to the brain, and thus the guidance decisions of retinal axons en route to their targets in the brain shape the neural circuitry that forms the basis of vision. Here, we focus on the choice made by retinal axons to cross or avoid the midline at the optic chiasm. This decision allows each brain hemisphere to receive inputs from both eyes corresponding to the same visual hemifield, and is thus crucial for binocular vision...
December 1, 2016: Developmental Neurobiology
https://www.readbyqxmd.com/read/27906055/mesenchymal-stem-cells-multipotent-stromal-cells-mscs-are-glycolytic-and-thus-glucose-is-a-limiting-factor-of-in-vitro-models-of-msc-starvation
#4
Austin Nuschke, Melanie Rodrigues, Albin W Wells, Kyle Sylakowski, Alan Wells
BACKGROUND: Mesenchymal stem/multipotent stromal cells (MSCs) contribute to tissue repair but are challenged during wound healing when the blood supply is disrupted, thereby limiting nutrient delivery. Survival mechanisms against 'starvation' include autophagy, which we previously found to enhance differentiation efficiency. MSC response to models of in vitro nutrient deprivation are of great interest for improving MSC survival and therapeutic efficacy; however, the rate-limiting nutrients are unknown...
December 1, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/27900855/a-new-type-of-syndromic-albinism-associated-with-mutations-in-ap3d1
#5
Lluis Montoliu, Michael S Marks
No abstract text is available yet for this article.
October 19, 2016: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/27899366/optical-coherence-tomography-angiography-of-foveal-hypoplasia
#6
Kaivon Pakzad-Vaezi, Pearse Keane, João Nobre Cardoso, Catherine Egan, Adnan Tufail
AIMS: To discuss foveal development in the context of detailed retinal vasculature imaging in foveal hypoplasia using optical coherence tomography angiography. METHODS: In this case series, the optical coherence tomography angiography results of four patients with idiopathic foveal hypoplasia and two patients with foveal hypoplasia secondary to oculocutaneous albinism are presented. RESULTS: Cases with intact visual acuity demonstrated lower grades of foveal hypoplasia on optical coherence tomography, while those with poor vision demonstrated high grades of foveal hypoplasia...
November 29, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27889061/biallelic-mutations-in-mitf-cause-coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-and-deafness
#7
Aman George, Dina J Zand, Robert B Hufnagel, Ruchi Sharma, Yuri V Sergeev, Janet M Legare, Gregory M Rice, Jessica A Scott Schwoerer, Mariana Rius, Laura Tetri, David M Gamm, Kapil Bharti, Brian P Brooks
Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27889060/autosomal-recessive-mutations-in-ap3b2-adaptor-related-protein-complex-3-beta-2-subunit-cause-an-early-onset-epileptic-encephalopathy-with-optic-atrophy
#8
Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, Caroline Paris, Jessica Douglas, Gaetan Lesca, Stylianos Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, Catherine Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Laurence Faivre, Julien Thevenon
Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals with epileptic encephalopathy, we ascertained two unrelated affected individuals with EOEE associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-exome sequencing...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27887888/evaluating-outer-segment-length-as-a-surrogate-measure-of-peak-foveal-cone-density
#9
Melissa A Wilk, Brandon M Wilk, Christopher S Langlo, Robert F Cooper, Joseph Carroll
Adaptive optics (AO) imaging tools enable direct visualization of the cone photoreceptor mosaic, which facilitates quantitative measurements such as cone density. However, in many individuals, low image quality or excessive eye movements precludes making such measures. As foveal cone specialization is associated with both increased density and outer segment (OS) elongation, we sought to examine whether OS length could be used as a surrogate measure of foveal cone density. The retinas of 43 subjects (23 normal and 20 albinism; aged 6-67 years) were examined...
November 22, 2016: Vision Research
https://www.readbyqxmd.com/read/27878623/history-of-internal-fixation-part-1-early-developments-with-wires-and-plates-before-world-war-ii
#10
REVIEW
Philippe Hernigou, Jacques Pariat
Though the date at which an orthopaedic implant was first used cannot be ascertained with any certainty, the fixation of bone fracture using an iron wire was reported for the first time in a French manuscript in 1775. The first techniques of operative fracture treatment were developed at the end of the 18th and in the beginning of the 19th centuries. The use of cerclage wires to fix fractures was the most frequent fixation at this time. The French Berenger-Feraud (1832-1900) had written the first book on internal fixation...
November 23, 2016: International Orthopaedics
https://www.readbyqxmd.com/read/27872683/safe-and-effective-sofosbuvir-based-therapy-in-patients-with-mental-health-disease-on-hepatitis-c-virus-treatment
#11
Lydia Shuk Yee Tang, Jack Masur, Zayani Sims, Amy Nelson, Anu Osinusi, Anita Kohli, Sarah Kattakuzhy, Michael Polis, Shyam Kottilil
AIM: To study impact of baseline mental health disease on hepatitis C virus (HCV) treatment; and Beck's Depression Inventory (BDI) changes with sofosbuvir- and interferon-based therapy. METHODS: This is a retrospective cohort study of participants from 5 studies enrolled from single center trials conducted at the Clinical Research Center of the National Institutes of Health, Bethesda, MD, United States. All participants were adults with chronic HCV genotype 1 infection and naïve to HCV therapy...
November 8, 2016: World Journal of Hepatology
https://www.readbyqxmd.com/read/27871484/identification-of-a-nuclear-exosome-decay-pathway-for-processed-transcripts
#12
Nicola Meola, Michal Domanski, Evdoxia Karadoulama, Yun Chen, Coline Gentil, Dennis Pultz, Kristoffer Vitting-Seerup, Søren Lykke-Andersen, Jens S Andersen, Albin Sandelin, Torben Heick Jensen
The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its co-factor Mtr4p/hMTR4, which links to RNA-binding protein adaptors. One example is the trimeric human nuclear exosome targeting (NEXT) complex, which is composed of hMTR4, the Zn-finger protein ZCCHC8, and the RNA-binding factor RBM7. NEXT primarily targets early and unprocessed transcripts, which demands a rationale for how the nuclear exosome recognizes processed RNAs. Here, we describe the poly(A) tail exosome targeting (PAXT) connection, which comprises the ZFC3H1 Zn-knuckle protein as a central link between hMTR4 and the nuclear poly(A)-binding protein PABPN1...
November 3, 2016: Molecular Cell
https://www.readbyqxmd.com/read/27849413/storage-pool-diseases-illuminate-platelet-dense-granule-biogenesis
#13
Andrea L Ambrosio, Santiago M Di Pietro
Platelet dense granules (DGs) are membrane bound compartments that store polyphosphate and small molecules such as ADP, ATP, Ca(2+), and serotonin. The release of DG contents plays a central role in platelet aggregation to form a hemostatic plug. Accordingly, congenital deficiencies in the biogenesis of platelet DGs underlie human genetic disorders that cause storage pool disease and manifest with prolonged bleeding. DGs belong to a family of lysosome-related organelles, which also includes melanosomes, the compartments where the melanin pigments are synthesized...
November 16, 2016: Platelets
https://www.readbyqxmd.com/read/27832328/-ophthalmological-rehabilitation-of-visually-impaired-children
#14
E K Altpeter, N X Nguyen
BACKGROUND: There are very few studies on visually impaired children in Germany; therefore, the aim of this study was to investigate the current spectrum of diseases of visually impaired children and the care of these children in schools and kindergartens with aids and integrative support. PATIENTS AND METHODS: In a retrospective study all children (n =303) who attended the outpatient department for the visually impaired of the University Eye Hospital Tübingen in 2013 and 2014 were evaluated...
November 10, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/27829879/hermansky-pudlak-syndrome-in-pregnancy-a-case-report
#15
Lydia Yusuf, Srivasavi Dukka, Etienne Ciantar
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Clinically, it presents as oculocutaneous albinism combined with bleeding diathesis. This is due to the absence of dense bodies in platelets causing a delayed secondary response resulting in prolonged bleeding time despite normal platelet count and coagulation factors. This has consequences for major bleeding, the risk of which is high at delivery. In the longer term, the condition is also associated with the development of pulmonary fibrosis, inflammatory bowel disorders caused by granulomatous colitis and renal failure...
December 2016: Obstetric Medicine
https://www.readbyqxmd.com/read/27829221/mutation-analysis-of-a-chinese-family-with-oculocutaneous-albinism
#16
Xiong Wang, Yaowu Zhu, Na Shen, Jing Peng, Chunyu Wang, Haiyi Liu, Yanjun Lu
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by either complete lack of or a reduction in melanin biosynthesis in the skin, hair, and eyes. OCA1, the most common and severe type, is caused by mutations in the tyrosinase (TYR) gene. In this study, we report a Chinese family with two members affected by OCA. Blood samples were collected from all family members. Genomic DNA was isolated from blood leukocytes, and all coding exons and adjacent intronic sequences of the TYR gene were examined for mutation analysis using polymerase chain reaction (PCR)-based sequencing...
November 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27818166/new-priorities-analysis-of-the-new-kidney-allocation-system-on-ucla-patients-transplanted-from-the-deceased-donor-waitlist
#17
Michelle J Hickey, Ying Zheng, Nicole Valenzuela, Qiuheng Zhang, Carolyn Krystal, Erik Lum, Eileen W Tsai, Gerald S Lipshutz, H Albin Gritsch, Gabriel Danovitch, Jeffrey Veale, David Gjertson, Michael Cecka, Elaine F Reed
UNOS implemented a new kidney allocation system (New KAS) on December 4, 2014 with a primary goal of increasing equity to organ transplant for patients that were immunologically or socially disadvantaged by the previous allocation system (Previous KAS) that prioritized long wait times. We examined the effects of the New KAS on patients transplanted from the UCLA deceased donor waitlist during the first year and compared to the last year of the Previous KAS. The total number of deceased donor kidney transplants was increased in the New KAS as compared to the Previous KAS (178 vs 148)...
November 3, 2016: Human Immunology
https://www.readbyqxmd.com/read/27804227/reduce-reuse-recycle-a-retrieval-transport-pathway-for-the-membrane-fusion-machinery-involved-in-melanosome-biogenesis
#18
Jarred J Bultema, Santiago M Di Pietro
The formation of the melanosome - the organelle responsible for synthesizing the melanin pigment found in hair, skin, and eyes - has long been studied as a model for the specialized development of organelles. In part this is due to the relative ease in identifying genes that impact pigmentation based on subtle to severe forms of albinism. The melanosome belongs to a family of lysosome-related organelles (LROs) that share some characteristics including an acidic lumen, part of their protein content, and biogenesis mechanisms...
November 2, 2016: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/27803022/transcriptional-dynamics-during-human-adipogenesis-and-its-link-to-adipose-morphology-and-distribution
#19
Anna Ehrlund, Niklas Mejhert, Christel Björk, Robin Andersson, Agné Kulyté, Gaby Åström, Masayoshi Itoh, Hideya Kawaji, Timo Lassmann, Carsten O Daub, Piero Carninci, Alistair Rr Forrest, Yoshihide Hayashizaki, Albin Sandelin, Erik Ingelsson, Fantom Consortium, Mikael Rydén, Jurga Laurencikiene, Peter Arner, Erik Arner
White adipose tissue (WAT) can develop into several phenotypes with different pathophysiological impact on type 2 diabetes. To better understand the adipogenic process, the transcriptional events that occur during in vitro differentiation of human adipocytes were investigated and the findings linked to WAT phenotypes. Single molecule transcriptional profiling provided a detailed map of the expressional changes of genes, enhancers, and long non-coding RNAs, where different types of transcripts share common dynamics during differentiation...
November 1, 2016: Diabetes
https://www.readbyqxmd.com/read/27802373/innate-color-preference-of-zebrafish-and-its-use-in-behavioral-analyses
#20
Jong-Su Park, Jae-Ho Ryu, Tae-Ik Choi, Young-Ki Bae, Suman Lee, Hae Jin Kang, Cheol-Hee Kim
Although innate color preference of motile organisms may provide clues to behavioral biases, it has remained a longstanding question. In this study, we investigated innate color preference of zebrafish larvae. A cross maze with different color sleeves around each arm was used for the color preference test (R; red, G; green, B; blue, Y; yellow). The findings showed that 5 dpf zebrafish larvae preferred blue over other colors (B > R > G > Y). To study innate color recognition further, tyrosinase mutants were generated using CRISPR/Cas9 system...
October 2016: Molecules and Cells
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