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https://www.readbyqxmd.com/read/28991657/quantitative-analysis-of-brain-atrophy-in-patients-with-xeroderma-pigmentosum-group-a-carrying-the-founder-mutation-in-japan
#1
Takehiro Ueda, Fumio Kanda, Masahiro Nishiyama, Chikako Nishigori, Tatsushi Toda
INTRODUCTION: Xeroderma pigmentosum (XP) is an inherited congenital disease presenting with dermatological and neurological manifestations. In Japan, XP complementation group A (XP-A) is most frequently observed in eight clinical subtypes, and the homozygous founder mutation, IVS3-1G>C in XPA, suffer from severe manifestations including progressive brain atrophy since childhood. In this study, we used magnetic resonance imaging (MRI) and applied volumetric analysis to elucidate the start and the progression of the brain atrophy in these patients...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28990860/in-a-genomic-era-placental-pathology-still-holds-the-key-in-the-nondysmorphic-stillbirth
#2
Jamie Campbell, Kristy Armstrong, Nithiya Palaniappan, Eddy Maher, Mary Glancy, Mary Porteous, Kathryn J Mckenzie, Margaret J Evans
Objective To explore the relative utility of genetic testing in contrast to placental pathology in explaining causation of death in the structurally normal stillborn population. Methods A retrospective review of a structurally normal stillborn infant cohort in South East Scotland between 2011 and 2015, defined by death at or after 24 weeks of gestation. We reviewed pathology reports and collected demographic data on cases. This information was collated with genetic test results (quantitative fluorescent polymerase chain reaction and microarray analysis) and placental pathology to create a database for analysis...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28989136/morphology-of-the-dentin-resin-interface-yielded-by-two-step-etch-and-rinse-adhesives-with-different-solvents
#3
João C Ferreira, Patrícia T Pires, Álvaro F de Azevedo, Sofia Arantes-Oliveira, Mário J Silva, Paulo R de Melo
AIM: The study aimed to analyze the morphology of the dentin-resin interface yielded by two-step etch-and-rinse adhesive systems with different solvents and compositions. MATERIALS AND METHODS: A total of 32 dentine disks were prepared and randomly assigned to four groups of one-bottle etch-and-rinse adhesive systems containing different solvents: group I, Adper Scotchbond-IXT™ (ethanol/water); group II, XP-Bond™ (tertiary butanol); group III, Prime and Bond NT(®) (acetone); and group IV, One Coat bond® (5% water)...
October 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28988442/dramatic-response-to-nivolumab-in-xeroderma-pigmentosum-skin-tumor
#4
Fanny Chambon, Sophie Osdoit, Kelly Bagny, Anne Moro, Jacqueline Nguyen, Yves Réguerre
We report the case of a 6-year-old female with xeroderma pigmentosum (XP) who developed a nonoperable scalp tumor, treated with anti-programmed cell death protein 1 (anti-PD-1) therapy (nivolumab). She presented with a sarcomatoid carcinoma of the scalp with bone lysis as well as vascular and meningeal contact. Nivolumab was initiated because it has emerged as a promising immunotherapy. We observed a dramatic tumor response with excellent tolerance. However, while on nivolumab therapy she developed two large skin melanomas and several squamous cell carcinomas, which have been resected...
October 8, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28978905/early-progression-of-xanthogranulomatous-pyelonephritis-in-children-might-be-dependent-on-vimentin-expression
#5
Danuta Ostalska-Nowicka, Katarzyna Mackowiak-Lewandowicz, Aneta Konwerska, Jacek Zachwieja
BACKGROUND Xanthogranulomatous pyelonephritis (XP) is an extremely rare, severe, atypical form of chronic renal parenchymal inflammation accompanied by hydronephrosis and/or urolithiasis. The pathomechanism of XP is not yet fully understood. Microscopically, XP is indicated by the presence of multinucleated giant cells and lipid-laden macrophages, as well as inflammatory infiltration and intensive renal fibrosis. The lipid accumulation in kidney parenchyma may be secondary to the altered flow of low-density lipoprotein (LDL)-derived cholesterol particles inside the affected cells...
October 5, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28974143/structural-dynamics-and-interactions-of-xeroderma-pigmentosum-complementation-group-a-xpa98-210-with-damaged-dna
#6
Sushmita Pradhan, Venkata Satish Kumar Mattaparthi
Nucleotide Excision Repair (NER) in higher organisms repair massive DNA abrasions caused by ultra-violet (UV) rays, and various mutagens, where Xeroderma Pigmentosum group A (XPA) protein is known to be involved in damage recognition step. Any mutations in XPA cause classical Xeroderma Pigmentosum (XP) disease. The extent to which XPA is required in the NER is still unclear. Here, we present the comparative study on the structural and conformational changes in globular DNA binding domain of XPA98-210 in DNA bound and DNA free state...
October 4, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28957753/structure-based-design-of-herg-neutral-antihypertensive-oxazalone-and-imidazolone-derivatives
#7
Busecan Aksoydan, Isik Kantarcioglu, Ismail Erol, Ramin Ekhteiari Salmas, Serdar Durdagi
Angiotensin II receptor type 1 (AT1) antagonists are the most recent drug class against hypertension. Recently first crystal structure of AT1 receptor is deposited to the protein data bank (PDB ID: 4YAY). In this work, several molecular screening methods such as molecular docking and de novo design studies were performed and it is found that oxazolone and imidazolone derivatives reveal similar/better interaction energy profiles compared to the FDA approved sartan molecules at the binding site of the AT1 receptor...
August 12, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28951035/cleaning-and-shaping-oval-canals-with-3%C3%A2-instrumentation-systems-a-correlative-micro-computed-tomographic-and-histologic-study
#8
Mariane F L S Lacerda, Marília F Marceliano-Alves, Alejandro R Pérez, José C Provenzano, Mônica A S Neves, Fábio R Pires, Lucio S Gonçalves, Isabela N Rôças, José F Siqueira
INTRODUCTION: The present study evaluated the cleaning and shaping ability of 3 instrumentation systems in oval canals of extracted vital teeth using a correlative analytic approach. METHODS: Oval distal canals from 33 freshly extracted mandibular molars with pulp vitality were scanned by micro-computed tomographic (micro-CT) imaging for sample selection. Specimens matched by anatomic similarities were distributed into 3 experimental groups according to the instrument system to be evaluated: the Self-Adjusting File (SAF; ReDentNOVA, Ra'anana, Israel), TRUShape (Dentsply Sirona, Tulsa, OK), and XP-endo Shaper (FKG Dentaire, La Chaux-de-Fonds, Switzerland)...
September 23, 2017: Journal of Endodontics
https://www.readbyqxmd.com/read/28928379/ylehd-an-epoxide-hydrolase-with-promiscuous-haloalkane-dehalogenase-activity-from-tropical-marine-yeast-yarrowia-lipolytica-is-induced-upon-xenobiotic-stress
#9
Chandrika Bendigiri, Smita Zinjarde, Ameeta RaviKumar
Recalcitrant environmental pollutants, like bromoorganics and epoxides are hydrolysed with limited substrate specificities by microbial oxygenases, reductases, hydrolases and dehalogenases. Here, we report the identification and characterisation of a protein (XP_504164) from the tropical marine yeast Yarrowia lipolytica NCIM 3589, known to degrade bromoorganics and epoxides. Multiple sequence alignment suggests it belongs to α/β superfamily with conservation of catalytic triad and oxyanion hole motifs. The corresponding gene cloned and protein (Ylehd) expressed in E...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28926624/molecular-characterization-expression-analysis-and-heterologous-expression-of-two-translationally-controlled-tumor-protein-genes-from-cucumis-sativus
#10
Xiang Nan Meng, Qiu Min Chen, Hai Yan Fan, Tie Feng Song, Na Cui, Ju Yong Zhao, Shu Min Jia, Ke Xin Meng
The translationally controlled tumor protein (TCTP) is a family of abundant and ubiquitous proteins involved in several important primary functions. Cucumbers harbor two TCTP genes, CsTCTP1 and CsTCTP2; however, their functional roles remain unclear. In this study, we isolated CsTCTP1 and CsTCTP2 (XP-004134215 and XP-004135602, respectively) promoters, full-length cDNA and genomic sequences from Cucumis sativus. Bioinformatics analysis, containing cis-acting elements, structural domains, phylogenetic tree and conserved motifs, suggested the conservation and divergence of CsTCTP1 and CsTCTP2, thus providing knowledge regarding their functions...
2017: PloS One
https://www.readbyqxmd.com/read/28913549/multicenter-phase-ii-study-of-capecitabine-plus-cisplatin-as-first-line-therapy-for-human-epidermal-growth-factor-receptor-2-negative-advanced-gastric-cancer-yokohama-clinical-oncology-group-study-ycog1107
#11
Kei Sato, Chikara Kunisaki, Takashi Kosaka, Ryo Takagawa, Masazumi Takahashi, Yusuke Izumisawa, Hiroshi Miyamoto, Sho Sato, Yusaku Tanaka, Naotaka Yamaguchi, Jun Kimura, Hidetaka A Ono, Hirochika Makino, Hirotoshi Akiyama, Itaru Endo
PURPOSE: S-1 plus cisplatin therapy is the recommended standard first-line regimen for human epidermal growth factor receptor 2 (HER-2)-negative advanced unresectable or recurrent gastric cancer (AGC) in the Japanese Gastric Cancer Treatment Guidelines. By contrast, capecitabine plus cisplatin (XP) therapy has been second-line therapy for these patients. This prospective study aimed to evaluate the efficacy and safety of XP as a first-line regimen for HER2-negative patients with AGC. METHODS: In this multicenter, open-label, phase II study, patients received cisplatin (80 mg/m(2) i...
September 14, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28905131/exploring-evidence-of-positive-selection-signatures-in-cattle-breeds-selected-for-different-traits
#12
Mengistie Taye, Wonseok Lee, Soomin Jeon, Joon Yoon, Tadelle Dessie, Olivier Hanotte, Okeyo Ally Mwai, Stephen Kemp, Seoae Cho, Sung Jong Oh, Hak-Kyo Lee, Heebal Kim
Since domestication, the genome landscape of cattle has been changing due to natural and artificial selection forces resulting in several general and specialized cattle breeds of the world. Identifying genomic regions affected due to these forces in livestock gives an insight into the history of selection for economically important traits and genetic adaptation to specific environments of the populations under consideration. This study explores the genes/genomic regions under selection in relation to the phenotypes of Holstein, Hanwoo, and N'Dama cattle breeds using Tajima's D, XP-CLR, and XP-EHH population statistical methods...
September 13, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28900499/profiling-chemotherapy-associated-myelotoxicity-among-chinese-gastric-cancer-population-receiving-cytotoxic-conventional-regimens-epidemiological-features-timing-predictors-and-clinical-impacts
#13
Ci Zhu, Yan Wang, Xicheng Wang, Chunmei Bai, Dan Su, Bing Cao, Jianming Xu
Objectives: We aim to evaluate the epidemiological features, timing, predictors and clinical impacts of chemotherapy-associated myelotoxicity in Chinese gastric cancer population receiving six established cytotoxic conventional regimens (CF/XP, EC(O)F/EC(O)X, DC(O)F/DC(O)X, PC(O)F/PC(O)X, FOLFOX4, or mFOLFOX7/XELOX). Patients and methods: A 4-year multicenter, prospective, observational study was conducted in multiple hospitals/institutes spanning three major regions in China. A total of 1,285 patients with gastric cancer, treated with six selected regimens between 2010 and 2014 were included...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28894662/acellular-dermal-matrix-treating-periocular-melanoma-in-a-patient-with-xeroderma-pigmentosa
#14
Kamlen Pillay, Saleigh Adams, Laura Vandermaesen, Donald Anthony Hudson
We report a 7-year-old girl with xeroderma pigmentosum (XP), who presented in our clinic with a large melanoma (35 × 50 × 20 mm, Breslow depth 18 mm) in the zygomatic-malar area. Palliative surgery was performed to maintain her residual vision and to reduce the pain caused by the compression of local structures. Because of the limited access of autologous skin grafts in pediatric patients with XP who are severely affected, we opted to use an acellular dermal matrix. There was 100% graft uptake, and the pain due to compression by the tumor was alleviated...
August 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28875618/intramyocardial-injection-of-stem-cells-in-pig-myocardial-infarction-model-the-first-trial-in-korea
#15
Min Chul Kim, Yong Sook Kim, Wan Seok Kang, Ki Hong Lee, Meeyoung Cho, Moon Hwa Hong, Kyung Seob Lim, Myung Ho Jeong, Youngkeun Ahn
Although cell therapy is emerged for cardiac repair, its efficacy is modest by intracoronary infusion. Therefore, we established the intramyocardial delivery technique using a left ventricular (LV) mapping system (NOGA® XP) using 18 pigs. After adipose tissue-derived mesenchymal stem cells (ATSCs) were delivered intramyocardially to porcine infarcted heart, LV ejection fraction (EF) was increased, and LV chamber size was decreased. We proved the therapeutic effect of intramyocardial injection of ATSC through a LV mapping system in the porcine model for the first time in Korea...
October 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28869364/nanocryl-coating-of-pmma-complete-denture-base-materials-to-prevent-scratching
#16
Hawa M Fathi, Hajer A Benonn, Anthony Johnson
The surface of polymethylmethacrylate (PMMA) is vulnerable to indentation by hard objects that may contribute to abrade the material surface and subject it to wear. This phenomenon promotes an increase in the surface roughness leading to microbial colonisation which can endanger the general health of wearers and damage the intra-oral prosthesis. The aim of this study is to investigate the effect of three different nanocryl coating agents (Easy Glaze, G-Coat Plus and Formulation XP) on surface roughness and thickness of PMMA material after a simulating cleaning process utilizing an electric toothbrush and three different dentifrices (pastes and immersion)...
September 2017: European Journal of Prosthodontics and Restorative Dentistry
https://www.readbyqxmd.com/read/28860187/analysis-of-dna-binding-by-human-factor-xeroderma-pigmentosum-complementation-group-a-xpa-provides-insight-into-its-interactions-with-nucleotide-excision-repair-substrates
#17
Norie Sugitani, Markus W Voehler, Michelle S Roh, Agnieszka M Topolska-Woś, Walter J Chazin
Xeroderma pigmentosum (XP) complementation group A (XPA) is an essential scaffolding protein in the multiprotein nucleotide excision repair (NER) machinery. The interaction of XPA with DNA is a core function of this protein; a number of mutations in the DNA-binding domain (DBD) are associated with XP disease. Although structures of the central globular domain of human XPA and data on binding of DNA substrates have been reported, the structural basis for XPA's DNA-binding activity remains unknown. X-ray crystal structures of the central globular domain of yeast XPA (Rad14) with lesion-containing DNA duplexes have provided valuable insights, but the DNA substrates used for this study do not correspond to the substrates of XPA as it functions within the NER machinery...
October 13, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28846868/transcription-coupled-repair-deficiency-protects-against-human-mutagenesis-and-carcinogenesis-personal-reflections-on-the-50th-anniversary-of-the-discovery-of-xeroderma-pigmentosum
#18
REVIEW
James E Cleaver
Xeroderma pigmentosum (XP) patients who lack the main damage recognition protein for global genome repair (GGR), XPC, have greatly increased skin cancer rates and elevated mutation frequencies originating from unrepaired ultraviolet photoproducts in the nontranscribed regions of the genome and in nontranscribed strands of expressed genes. But they show no increased mutations in transcribed strands. In contrast, cancer is absent from Cockayne syndrome (CS) patients that have defective transcription coupled repair (TCR) despite severe photosensitivity, CS patients remarkably show no elevation of UV induced mutagenesis implying that defective TCR may be protective against mutagenesis and carcinogenesis...
October 2017: DNA Repair
https://www.readbyqxmd.com/read/28843705/recurrent-conjunctival-atypical-fibroxanthoma-in-pigmentosum-xeroderma
#19
M Cerdà-Ibáñez, A Barreiro-González, H Barranco González, J Aviñó Martínez, M Évole-Buselli, M Á Harto-Castaño
CASE REPORT: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. DISCUSSION: Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion...
August 23, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28833524/trichothiodystrophy-complementation-group-a-complicated-with-squamous-cell-carcinoma
#20
T Takeichi, S Tomimura, Y Okuno, M Hamada, M Kono, K Sugiura, M Akiyama
There are three related, clinically defined disorders of DNA repair: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS).(1) Photosensitivity, neurological/developmental abnormalities, and skin cancer are important pathological features that can be used to distinguish between these three archetypes.(1,2) TTD is a rare, autosomal recessive disease characterized by brittle, sulfur-deficient hair and multisystem abnormalities.(3) This article is protected by copyright. All rights reserved...
August 22, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
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