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https://www.readbyqxmd.com/read/28820170/paradoxical-worsening-of-a-case-of-tb-subretinal-abscess-with-serpiginous-like-choroiditis-following-the-initiation-of-antitubercular-therapy
#1
Sudha K Ganesh, B Sowkath Ali
A 37-year-old immunocompetent male patient presented with the blurring of vision, both eyes for the past1 year. Fundus examination revealed bilateral multiple subretinal abscesses with areas of healed serpiginous-like choroiditis. Laboratory investigations showed positive tuberculin skin test, positive QuantiFERON TB-Gold Test, and high resolution computed tomography chest showed enlarged mediastinal lymph nodes. The aqueous sample revealed polymerase chain reaction (PCR) positive for Mycobacterium tuberculosis (MTB) (MPB64 genome)...
August 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28819573/an-interstitial-4q-deletion-with-a-mosaic-complementary-ring-chromosome-in-a-child-with-dysmorphism-linear-skin-pigmentation-and-hepatomegaly
#2
J Carter, H Brittain, D Morrogh, N Lench, J J Waters
Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphism, linear skin pigmentation, and hepatomegaly. An additional small ring chromosome was detected in 5/30 cells examined via G-banding. Confirmation of the origin of the ring chromosome was obtained by FISH analysis which identified that the ring chromosome contained material from the deleted region of chromosome 4 and was therefore complementary to the 21...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28814448/carcinogen-susceptibility-is-regulated-by-genome-architecture-and-predicts-cancer-mutagenesis
#3
Pablo E García-Nieto, Erin K Schwartz, Devin A King, Jonas Paulsen, Philippe Collas, Rafael E Herrera, Ashby J Morrison
The development of many sporadic cancers is directly initiated by carcinogen exposure. Carcinogens induce malignancies by creating DNA lesions (i.e., adducts) that can result in mutations if left unrepaired. Despite this knowledge, there has been remarkably little investigation into the regulation of susceptibility to acquire DNA lesions. In this study, we present the first quantitative human genome-wide map of DNA lesions induced by ultraviolet (UV) radiation, the ubiquitous carcinogen in sunlight that causes skin cancer...
August 16, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28811343/comparative-genomics-of-escherichia-coli-isolated-from-skin-and-soft-tissue-and-other-extraintestinal-infections
#4
Amit Ranjan, Sabiha Shaik, Nishant Nandanwar, Arif Hussain, Sumeet K Tiwari, Torsten Semmler, Savita Jadhav, Lothar H Wieler, Munirul Alam, Rita R Colwell, Niyaz Ahmed
Escherichia coli, an intestinal Gram-negative bacterium, has been shown to be associated with a variety of diseases in addition to intestinal infections, such as urinary tract infections (UTIs), meningitis in neonates, septicemia, skin and soft tissue infections (SSTIs), and colisepticemia. Thus, for nonintestinal infections, it is categorized as extraintestinal pathogenic E. coli (ExPEC). It is also an opportunistic pathogen, causing cross infections, notably as an agent of zoonotic diseases. However, comparative genomic data providing functional and genetic coordinates for ExPEC strains associated with these different types of infections have not proven conclusive...
August 15, 2017: MBio
https://www.readbyqxmd.com/read/28811336/catastrophic-unbalanced-genome-rearrangements-cause-somatic-loss-of-berry-color-in-grapevine
#5
Pablo Carbonell-Bejerano, Carolina Royo, Rafael Torres-Pérez, Jérôme Grimplet, Lucie Fernandez, Jose M Franco-Zorrilla, Diego Lijavetzky, Elisa Baroja, Juana Martínez, Enrique García-Escudero, Javier Ibáñez, José M Martínez-Zapater
Grape color somatic variants that can be used to develop new grapevine cultivars occasionally appear associated to deletion events of uncertain origin. To understand the mutational mechanisms generating somatic structural variation in grapevine, we compared the Tempranillo Blanco (TB) white berry somatic variant to its black berry ancestor, Tempranillo Tinto. Whole-genome sequencing (WGS) uncovered a catastrophic genome rearrangement in TB that caused the hemizygous deletion of 313 genes, including the loss of the functional copy for the MYB transcription factors required for anthocyanin pigmentation in the berry skin...
August 15, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28810834/multiple-trait-qtl-mapping-and-genomic-prediction-for-wool-traits-in-sheep
#6
Sunduimijid Bolormaa, Andrew A Swan, Daniel J Brown, Sue Hatcher, Nasir Moghaddar, Julius H van der Werf, Michael E Goddard, Hans D Daetwyler
BACKGROUND: The application of genomic selection to sheep breeding could lead to substantial increases in profitability of wool production due to the availability of accurate breeding values from single nucleotide polymorphism (SNP) data. Several key traits determine the value of wool and influence a sheep's susceptibility to fleece rot and fly strike. Our aim was to predict genomic estimated breeding values (GEBV) and to compare three methods of combining information across traits to map polymorphisms that affect these traits...
August 15, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28809141/hpv-11-variability-persistence-and-progression-to-genital-warts-in-men-the-him-study
#7
Ema Flores-Díaz, Karen A Sereday, Silvaneide Ferreira, Bradley Sirak, João Simão Sobrinho, Maria Luiza Baggio, Lenice Galan, Roberto C Silva, Eduardo Lazcano-Ponce, Anna R Giuliano, Luisa L Villa, Laura Sichero, The Him Study Group
HPV-11 and HPV-6 are the etiological agents of about 90 % of genital warts (GWs). The intra-typic variability of HPV-11 and its association with infection persistence and GW development remains undetermined. Here, HPV infection in men (HIM) participants who had an HPV-11 genital swab and/or GW, preceded or not by a normal skin genital swab were analysed. Genomic variants were characterized by PCR-sequencing and classified within lineages (A, B) and sublineages (A1, A2, A3, A4). HPV-11 A2 variants were the most frequently detected in the genital swab samples from controls and in both genital swabs and GW samples from cases...
August 15, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28807318/application-of-a-specific-quantitative-real-time-pcr-qpcr-to-identify-leishmania-infantum-dna-in-spleen-skin-and-hair-samples-of-wild-leporidae
#8
María Victoria Ortega, Inmaculada Moreno, Mercedes Domínguez, María Luisa de la Cruz, Ana Belén Martín, Antonio Rodríguez-Bertos, Raúl López, Alejandro Navarro, Sergio González, María Mazariegos, Joaquín Goyache, Lucas Domínguez, Nerea García
The aim of this study was to compare a quantitative real-time PCR (qPCR) validated for the detection of Leishmania infantum in dogs with a nested PCR but in wild Leporidae. Additionally, L. infantum results from indirect immunofluorescent antibody test (IFAT) and in vitro culture were also compared with qPCR. Different samples (spleen, skin and hair) recovered from 224 European rabbits and 70 Iberian hares from two green areas of Madrid Council were analysed for the detection of L. infantum. The presence of Leishmania kDNA was detected by qPCR in 58 out of 221 (26...
August 30, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28801673/photosensitizer-in-lipid-nanoparticle-a-nano-scaled-approach-to-antibacterial-function
#9
Bishakh Rout, Chi-Hsien Liu, Wei-Chi Wu
Photosensitization-based antimicrobial therapy (PAT) is an alternative therapy aimed at achieving bacterial inactivation. Researchers use various photosensitizers to achieve bacterial inactivation. However, the most widely used approach involves the use of photosensitizers dispersed in aqueous solution, which could limit the effectiveness of photodynamic inactivation. Therefore, the approaches to encapsulate the photosensitizer in appropriate vehicles can enhance the delivery of the photosensitizer. Herein, Toluidine Blue O (TBO) was the photosensitizer, and lipid nanoparticles were used for its encapsulation...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28800953/col7a1-editing-via-crispr-cas9-in-recessive-dystrophic-epidermolysis-bullosa
#10
Stefan Hainzl, Patricia Peking, Thomas Kocher, Eva M Murauer, Fernando Larcher, Marcela Del Rio, Blanca Duarte, Markus Steiner, Alfred Klausegger, Johann W Bauer, Julia Reichelt, Ulrich Koller
Designer nucleases allow specific and precise genomic modifications and represent versatile molecular tools for the correction of disease-associated mutations. In this study, we have exploited an ex vivo CRISPR/Cas9-mediated homology-directed repair approach for the correction of a frequent inherited mutation in exon 80 of COL7A1, which impairs type VII collagen expression, causing the severe blistering skin disease recessive dystrophic epidermolysis bullosa. Upon CRISPR/Cas9 treatment of patient-derived keratinocytes, using either the wild-type Cas9 or D10A nickase, corrected single-cell clones expressed and secreted similar levels of type VII collagen as control keratinocytes...
July 13, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28798184/complete-genome-sequence-and-annotation-of-the-staphylococcus-aureus-strain-hg001
#11
Isabelle Caldelari, Béatrice Chane-Woon-Ming, Céline Noirot, Karen Moreau, Pascale Romby, Christine Gaspin, Stefano Marzi
Staphylococcus aureus is an opportunistic Gram-positive pathogen responsible for a wide range of infections from minor skin abscesses to life-threatening diseases. Here, we report the draft genome assembly and current annotation of the HG001 strain, a derivative of the RN1 (NCT8325) strain with restored rbsU (a positive activator of SigB).
August 10, 2017: Genome Announcements
https://www.readbyqxmd.com/read/28796362/primary-cutaneous-acral-cd8-positive-t-cell-lymphoma-with-extra-cutaneous-involvement-a-long-standing-case-with-an-unexpected-progression
#12
Alberti-Violetti S, Fanoni D, Provasi M, Corti L, Venegoni L, Berti E
Primary cutaneous acral CD8+ T-cell lymphoma (acral CD8+ TCL) is a new provisional entity characterized by acral skin lesions and an indolent course. We describe an extraordinary case characterized by relapsed nodules with CD8+ cytotoxic infiltrates on the left ear. After 35 years, the skin lesions spread to other acral sites, and a mass with the same histological features as the other skin lesions appeared on the nose. Multiple courses of chemotherapy led to stable disease. Histological examinations carried out at different times showed the gradual transformation of the neoplastic cells with an increased proliferation index...
August 10, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28794481/a-pooled-mutational-analysis-identifies-ionizing-radiation-associated-mutational-signatures-conserved-between-mouse-and-human-malignancies
#13
Philip R Davidson, Amy L Sherborne, Barry Taylor, Alice O Nakamura, Jean L Nakamura
Single nucleotide variants (SNVs) identified in cancer genomes can be de-convolved using non-negative matrix factorization (NMF) into discrete trinucleotide-based mutational signatures indicative of specific cancer-causing processes. The stability of NMF-generated mutational signatures depends upon the numbers of variants available for analysis. In this work, we sought to assess whether data from well-controlled mouse models can compensate for scarce human data for some cancer types. High quality sequencing data from radiotherapy-induced cancers is particularly scarce and the mutational processes defining ionizing radiation (IR)-induced mutagenesis in vivo are poorly defined...
August 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28794131/heterogeneous-clinical-spectrum-of-dnajc12-deficient-hyperphenylalaninemia-from-attention-deficit-to-severe-dystonia-and-intellectual-disability
#14
Francjan J van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, Nan Shen, Danique van Vliet, Mohammed Al-Owain, Khushnooda Ramzan, Salwa M Alkhalifi, Roelineke J Lunsing, Rebecca M Heiner-Fokkema, Anahita Rassi, Corinne Gemperle-Britschgi, Georg F Hoffmann, Nenad Blau, Beat Thöny
BACKGROUND: Autosomal recessive mutations in DNAJC12, encoding a cochaperone of HSP70 with hitherto unknown function, were recently described to lead to hyperphenylalaninemia, central monoamine neurotransmitter (dopamine and serotonin) deficiency, dystonia and intellectual disability in six subjects affected by homozygous variants. OBJECTIVE: Patients exhibiting hyperphenylalaninemia in whom deficiencies in hepatic phenylalanine hydroxylase and tetrahydrobiopterin cofactor metabolism had been excluded were subsequently analysed for DNAJC12 variants...
August 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28793012/refractory-pemphigus-foliaceus-associated-with-herpesvirus-infection-case-report
#15
Nurimar C Fernandes, Heloisa Rampinelli, Leandro Magalhães de Souza, Maria Angélica A M Guimarães
Pemphigus foliaceus (PF) is an autoimmune disease characterized by blistering of the skin. Infections caused by members of the herpesviridae family have been suggested as a possible triggering factor for pemphigus vulgaris (PV), but not for PF. The present study aimed to investigate the presence of Human herpesvirus (types 1, 2, 3) in corticosteroid refractory skin lesions from a patient with PF, by a Polymerase chain reaction (PCR) assay. The sample collected from cutaneous blisters has tested positive for herpes simplex virus type 1 (HSV1) after sequence analysis of the amplified viral genomic segment...
2017: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/28791127/patterns-of-genomic-and-phenomic-diversity-in-wine-and-table-grapes
#16
Zoë Migicovsky, Jason Sawler, Kyle M Gardner, Mallikarjuna K Aradhya, Bernard H Prins, Heidi R Schwaninger, Carlos D Bustamante, Edward S Buckler, Gan-Yuan Zhong, Patrick J Brown, Sean Myles
Grapes are one of the most economically and culturally important crops worldwide, and they have been bred for both winemaking and fresh consumption. Here we evaluate patterns of diversity across 33 phenotypes collected over a 17-year period from 580 table and wine grape accessions that belong to one of the world's largest grape gene banks, the grape germplasm collection of the United States Department of Agriculture. We find that phenological events throughout the growing season are correlated, and quantify the marked difference in size between table and wine grapes...
2017: Horticulture Research
https://www.readbyqxmd.com/read/28783534/frequency-of-hepatitis-e-virus-rotavirus-and-porcine-enteric-calicivirus-at-various-stages-of-pork-carcass-processing-in-two-pork-processing-plants
#17
Tineke H Jones, Victoria Muehlhauser
Hepatitis E virus (HEV), rotavirus (RV), and porcine enteric calicivirus (PEC) infections are common in swine and raises concerns about the potential for zoonotic transmission through undercooked meat products. Enteric viruses can potentially contaminate carcasses during meat processing operations. There is a lack of information on the prevalence and control of enteric viruses in the pork processing chain. This study compared the incidence and levels of contamination of hog carcasses with HEV, RV and PEC at different stages of the dressing process...
July 29, 2017: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/28782597/pathogenicity-of-snakehead-vesiculovirus-in-rice-field-eels-monopterus%C3%A2-albus
#18
Lindan Sun, Jiagang Tu, Lizhu Yi, Wenjie Chen, Lijuan Zhao, Yunmao Huang, Rishen Liang, Jun Li, Meng Zhou, Li Lin
Snakehead vesiculovirus (SHVV) has caused mass mortality to cultured snakehead fish in China, resulting in enormous economic losses in snakehead fish culture. In this report, the whole genome of SHVV was sequenced. Interestingly, it shared more than 94% nucleotide sequence identity with Monopterus albus rhabdovirus (MoARV), which has caused great economic loss to cultured rice field eel (Monopterus albus). Therefore, the concern of cross-species infection of these viruses prompted us to investigate the susceptibility of rice field eel to SHVV infection...
August 3, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28782565/genomic-epidemiology-of-methicillin-susceptible-staphylococcus-aureus-across-colonisation-and-skin-and-soft-tissue-infection
#19
Alex Grinberg, Patrick J Biggs, Ji Zhang, Stephen Ritchie, Zachary Oneroa, Charlotte O'Neil, Ali Karkaba, Niluka S Velathanthiri, Geoffrey W Coombs
OBJECTIVES: Staphylococcus aureus skin and soft tissue infection (Sa-SSTI) places a significant burden on healthcare systems. New Zealand has a high incidence of Sa-SSTI, and here most morbidity is caused by a polyclonal methicillin-susceptible (MSSA) population. However, MSSA also colonise asymptomatically the cornified epithelia of approximately 20% of the population, and their divide between commensalism and pathogenicity is poorly understood. We aimed to see whether MSSA is genetically differentiated across asymptomatic colonisation and SSTI; and given the close interactions between people and pets, whether strains isolated from pets differ from human strains...
August 4, 2017: Journal of Infection
https://www.readbyqxmd.com/read/28777946/engineered-epidermal-progenitor-cells-can-correct-diet-induced-obesity-and-diabetes
#20
Jiping Yue, Xuewen Gou, Yuanyuan Li, Barton Wicksteed, Xiaoyang Wu
Somatic gene therapy is a promising approach for treating otherwise terminal or debilitating diseases. The human skin is a promising conduit for genetic engineering, as it is the largest and most accessible organ, epidermal autografts and tissue-engineered skin equivalents have been successfully deployed in clinical applications, and skin epidermal stem/progenitor cells for generating such grafts are easy to obtain and expand in vitro. Here, we develop skin grafts from mouse and human epidermal progenitors that were engineered by CRISPR-mediated genome editing to controllably release GLP-1 (glucagon-like peptide 1), a critical incretin that regulates blood glucose homeostasis...
August 3, 2017: Cell Stem Cell
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