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https://www.readbyqxmd.com/read/28525403/genetic-diseases-associated-with-an-increased-risk-of-skin-cancer-development-in-childhood
#1
Alexander L Fogel, Kavita Y Sarin, Joyce M C Teng
PURPOSE OF REVIEW: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. RECENT FINDINGS: In basal cell nevus syndrome (BCNS), the patched2 (PTCH2) and suppressor of fused (SUFU) genes have been implicated in disease pathogenesis...
May 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28507374/ophthalmo-genetic-analysis-of-pakistani-patients-with-nonsyndromic-oculocutaneous-albinism-through-whole-exome-sequencing
#2
Hadia Gul, Muhammad Zeeshan Ali, Ejazullah Khan, Muhammad Zubair, Muhammad Badar, Saadullah Khan, Abdul Haleem Shah, Muzammil Ahmad Khan
Oculocutaneous albinism (OCA) is a disorder of defective melanin biosynthesis that is characterized by hypo-pigmentation of skin, hair and retinal pigment epithelium. Phenotypically, OCA patients exhibit white milky skin, whitish to golden hair and deterioration of retinal cells. Until recently, genetic studies have reported seven causative genes (TYR, TYRP1, OCA2, SLC45A2, SLC24A2, C10ORF11 and MCIR) and an uncharacterized OCA5 locus. Herein we present the medico-genetic study of three Pakistani patients inheriting autosomal recessive OCA...
May 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28493836/carbohydrate-antigen-125-and-carcinoembryonic-antigen-in-the-differentiation-of-tuberculous-peritonitis-and-peritonitis-carcinomatosa
#3
Huan Tong, Yang Tai, Cheng Ye, Hao Wu, Lin-Hao Zhang, Jin-Hang Gao, Zhao-Ping Yan, Zhi-Yin Huang, Cheng-Wei Tang
Tumor markers could increase in both tuberculous peritonitis and peritonitis carcinomatosa, confusing the differentiation of these diseases. This study aimed to better understand the extent of elevation and diagnostic efficacies of carbohydrate antigen 125 (CA 125), carcinoembryonic antigen (CEA) and combinative use of them in tuberculous peritonitis and peritonitis carcinomatosa. Of 2998 patients reviewed, 101, 120 and 71 patients were assigned to TBP group (tuberculous peritonitis), non-OCA group (non-ovarian carcinoma-related peritonitis carcinomatosa) and OCA group (ovarian carcinoma-related peritonitis carcinomatosa), respectively...
April 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28485764/%C3%A3-kad-kunskap-om-familj%C3%A3-rt-melanom-och-de-bakom%C3%A2-liggande-generna
#4
Hildur Helgadottir, Kari Nielsen, Veronica Höiom
Increased knowledge on familial melanoma and the underlying genetics Approximately 5-10 % of all melanoma patients have close relatives with melanoma. 5-20% of melanoma families have germline mutations in the CDKN2A gene. Swedish CDKN2A mutation carriers have a young median age of onset of melanoma, increased risks of multiple primary melanoma and of tobacco-associated cancers in respiratory and upper digestive tissues, and also worse survival compared to non-carriers. In up to 80% of melanoma families no high risk melanoma associated germline mutations are found...
May 9, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28476152/a-novel-nonsense-mutation-in-the-tyrosinase-gene-is-related-to-the-albinism-in-a-capuchin-monkey-sapajus-apella
#5
Felipe Tadeu Galante Rocha de Vasconcelos, Einat Hauzman, Leonardo Dutra Henriques, Paulo Roney Kilpp Goulart, Olavo de Faria Galvão, Ronaldo Yuiti Sano, Givago da Silva Souza, Jessica Lynch Alfaro, Luis Carlos de Lima Silveira, Dora Fix Ventura, Daniela Maria Oliveira Bonci
BACKGROUND: Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be caused by mutations in the tyrosinase gene (TYR), which expresses the tyrosinase enzyme and has an important role in the synthesis of melanin pigment. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals...
May 5, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28474520/noninvasively-imaging-subcutaneous-tumor-xenograft-by-a-handheld-raman-detector-with-the-assistance-of-an-optical-clearing-agent
#6
Yunfei Zhang, Haoran Liu, Jiali Tang, Zhuoyun Li, Xingyu Zhou, Ren Zhang, Liang Chen, Ying Mao, Cong Li
A handheld Raman detector with operational convenience, high portability, and rapid acquisition rate has been applied in clinics for diagnostic purposes. However, the inherent weakness of Raman scattering and strong scattering of the turbid tissue restricts its utilization to superficial locations. To extend the applications of a handheld Raman detector to deep tissues, a gold nanostar-based surface-enhanced Raman scattering (SERS) nanoprobe with robust colloidal stability, a fingerprint-like spectrum, and extremely high sensitivity (5...
May 17, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28472184/lung-function-decline-in-subjects-with-and-without-copd-in-a-population-based-cohort-in-latin-america
#7
Rogelio Pérez-Padilla, Rosario Fernandez-Plata, Maria Montes de Oca, Maria Victorina Lopez-Varela, Jose R Jardim, Adriana Muiño, Gonzalo Valdivia, Ana Maria B Menezes
BACKGROUND: Lung-function decline is one of the possible mechanisms leading to Chronic Obstructive Pulmonary Disease (COPD). METHODS: We analyzed data obtained from two population-based surveys of adults (n = 2026) conducted in the same individuals 5-9 years (y) after their baseline examination in three Latin-American cities. Post BronchoDilator (postBD) FEV1 decline in mL/y, as %predicted/y (%P/y) and % of baseline/y (%B/y) was calculated and the influence of age, gender, BMI, baseline lung function, BD response, exacerbations rate evaluated using multivariate models...
2017: PloS One
https://www.readbyqxmd.com/read/28470625/an-anti-amoebic-vaccine-generation-of-the-recombinant-antigen-lc3-from-entamoeba-histolytica-linked-to-mutated-exotoxin-a-pe%C3%AE-iii-via-the-pichia-pastoris-system
#8
Sandra Luz Martínez-Hernández, Daniel Cervantes-García, Martín Muñoz-Ortega, Liseth R Aldaba-Muruato, Victor M Loera-Muro, Jorge A Ascacio-Martínez, María de Jesús Loera-Arias, Roberto Montes de Oca-Luna, Javier Ventura-Juárez
OBJECTIVE: To generate an immunogenic chimeric protein containing the Entamoeba histolytica LC3 fragment fused to the retrograde delivery domains of exotoxin A of Pseudomonas aeruginosa and KDEL3 for use as an effective vaccine. RESULTS: A codon-optimized synthetic gene encoding the PEΔIII-LC3-KDEL3 fusion construct was designed for expression in Pichia pastoris. This transgene was subcloned into the plasmid pPIC9 for methanol-inducible expression. After transformation and selection of positive-transformed clones by PCR, the expression of the recombinant protein PEΔIII-LC3-KDEL3 was elicited...
May 3, 2017: Biotechnology Letters
https://www.readbyqxmd.com/read/28468009/what-comes-after-ursodeoxycholic-acid-in-primary-biliary-cholangitis
#9
Lin Lee Wong, Vinod S Hegade, David E J Jones
Primary biliary cholangitis (PBC) is a rare autoimmune liver disease characterized by chronic cholestasis. Treatment with the accepted primary therapy ursodeoxycholic acid (UDCA) has been shown to be associated with delayed disease progression probably through reduced impact of cholestatic injury on the target biliary epithelial cells. Patients with inadequate response to UDCA (which can be identified through validated biochemical criteria) are at increased risk of disease progression, need for liver transplantation, and death...
2017: Digestive Diseases
https://www.readbyqxmd.com/read/28464389/facile-access-to-naoc%C3%A2-as-and-its-use-as-an-arsenic-source-to-form-germylidenylarsinidene-complexes
#10
Matthias Driess, Shenglai Yao, Yves Großheim, Arseni Kastenko, Ernesto Ballestero-Martínez, Stefan Schutte, Mark Bispinghoff, Hansjörg Grützmacher
A facile, one-pot synthesis of [Na(OCAs)(dioxane)x] (x = 2.3 - 3.3) in 78% yield is reported through the reaction of arsine gas with dimethylcarbonate in the presence of NaOtBu and 1,4-dioxane. It has been employed for the synthesis of the first arsaketenyl-functionalized germylene [LGeAsCO] (2, L = CH[CMeNDipp]2, Dipp = 2,6-iPr2C6H3) from the reaction with LGeCl 1. If exposed to daylight, 2 undergoes CO elimination to form the 1,3-digerma-2,4-diarsacyclobutadiene [L2Ge2As2] 3 which contains a symmetric Ge2As2 ring with ylide-like Ge=As bonds...
May 2, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28464040/pulsed-lavage-cleansing-of-osteochondral-grafts-depends-on-lavage-duration-flow-intensity-and-graft-storage-condition
#11
Yang Sun, Weibo Jiang, Esther Cory, Jason P Caffrey, Felix H Hsu, Albert C Chen, Jincheng Wang, Robert L Sah, William D Bugbee
INTRODUCTION: Osteochondral allograft (OCA) transplantation is generally effective for treating large cartilage lesions. Cleansing OCA subchondral bone to remove donor marrow elements is typically performed with pulsed lavage. However, the effects of clinical and experimental parameters on OCA marrow removal by pulsed lavage are unknown. The aim of the current study was to determine the effects on marrow cleansing in human osteochondral cores (OCs) of (1) lavage duration, (2) lavage flow intensity, and (3) OC sample type and storage condition...
2017: PloS One
https://www.readbyqxmd.com/read/28460943/ancestral-andean-grain-quinoa-as-source-of-lactic-acid-bacteria-capable-to-degrade-phytate-and-produce-b-group-vitamins
#12
Silvana L Carrizo, Cecilia E Montes de Oca, Jonathan E Laiño, Nadia E Suarez, Graciela Vignolo, Jean Guy LeBlanc, Graciela Rollán
The lactic acid bacteria (LAB) microbiota of quinoa grains (QG) and spontaneous sourdough (QSS) was evaluated. Different strains of Lactobacillus (L.) plantarum (7), L. rhamnosus (5), L. sakei (1), Pediococcus (Ped.) pentosaceus (9), Leuconostoc (Leuc.) mesenteroides (1), Enterococcus (E.) casseliflavus (2), E. mundtii (3), E. hirae (1), E. gallinarum (12), Enterococcus sp. (1), and E. hermanniensis (2) were isolated, identified and characterized. Only four strains isolated from QSS and eight strains isolated from QG showed amylolytic activity...
November 2016: Food Research International
https://www.readbyqxmd.com/read/28460923/new-insights-about-flocculation-process-in-sodium-caseinate-stabilized-emulsions
#13
Cristián Huck-Iriart, Juan Montes-de-Oca-Ávalos, María Lidia Herrera, Roberto Jorge Candal, Cristiano Luis Pinto-de-Oliveira, Iris Linares-Torriani
Flocculation process was studied in emulsions formulated with 10wt.% sunflower oil, 2, 5 or 7.5wt.% NaCas, and with or without addition of sucrose (0, 5, 10, 15, 20 or 30wt.%). Two different processing conditions were used to prepare emulsions: ultraturrax homogenization or further homogenization by ultrasound. Emulsions with droplets with diameters above (coarse) or below (fine) 1μm were obtained. Emulsions were analyzed for droplet size distribution by static light scattering (SLS), stability by Turbiscan, and structure by confocal laser scanning microscopy (CLSM) and small angle X-ray scattering (SAXS)...
November 2016: Food Research International
https://www.readbyqxmd.com/read/28454292/dna-vaccine-encoding-human-papillomavirus-antigens-flanked-by-a-signal-peptide-and-a-kdel-sequence-induces-a-potent-therapeutic-antitumor-effect
#14
Jose J Perez-Trujillo, Rodolfo Garza-Morales, Jose A Barron-Cantu, Gabriel Figueroa-Parra, Aracely Garcia-Garcia, Humberto Rodriguez-Rocha, Jaime Garcia-Juarez, Gerardo E Muñoz-Maldonado, Odila Saucedo-Cardenas, Roberto Montes-De-Oca-Luna, Maria De Jesus Loera-Arias
Cellular immune responses play a critical role in the eradication of intracellular infections and malignant cells through the recognition and subsequent removal of the infection or malignant cells. Effective antigen presentation is crucial for stimulating the immune system against malignant cells. Calreticulin (CRT) has been used to improve antigen presentation. However, CRT overexpression has been previously associated with the development of pancreatic and breast cancer. The import and retention signals of CRT in the endoplasmic reticulum (ER) can be used to overcome CRT overexpression...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28452956/protective-effect-of-caffeic-acid-derivatives-on-tert-butyl-hydroperoxide-induced-oxidative-hepato-toxicity-and-mitochondrial-dysfunction-in-hepg2-cells
#15
Tzung-Hsun Tsai, Chun-Hsien Yu, Yu-Ping Chang, Yu-Ting Lin, Ching-Jang Huang, Yueh-Hsiung Kuo, Po-Jung Tsai
Oxidative stress results in structural and functional abnormalities in the liver and is thought to be a crucial factor in liver diseases. The aim of this study was to investigate the cytoprotective and antioxidant effects of caffeic acid (CA) derivatives on tert-butyl hydroperoxide (t-BHP)-induced oxidative stress in HepG2 cells. Nine CA derivatives were synthesized, including N-phenylethyl caffeamide (PECA), N-(3-florophen)methyl caffeamide (FMCA), N-(4-methoxy-phen)methyl caffeamide (MPMCA), N-heptyl caffeamide (HCA), N-octyl caffeamide (OCA), octyl caffeate (CAOE), phenpropyl caffeate (CAPPE), phenethyl caffeate (CAPE), and phenmethyl caffeate (CAPME)...
April 28, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28451931/predictive-value-of-gut-peptides-in-t2d-remission-randomized-controlled-trial-comparing-metabolic-gastric-bypass-sleeve-gastrectomy-and-greater-curvature-plication
#16
Anna Casajoana, Jordi Pujol, Amador Garcia, Jordi Elvira, Nuria Virgili, Francisco Javier de Oca, Xavier Duran, Sonia Fernández-Veledo, Joan Vendrell, Nuria Vilarrasa
BACKGROUND: Our aim was to determine the predictive value of gut hormone changes for the improvement of type 2 diabetes (T2D) following metabolic Roux-en-Y gastric bypass (mRYGB), sleeve gastrectomy (SG), and greater curvature plication (GCP) in a randomized controlled trial. Contradictory results have been obtained regarding the role of gastrointestinal hormones (in particular GLP-1) in beneficial metabolic bariatric surgery outcomes. METHODS: Forty-five patients with T2D (mean BMI 39...
April 27, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28451379/retrospective-analysis-in-oculocutaneous-albinism-patients-for-the-2-7%C3%A2-kb-deletion-in-the-oca2-gene-revealed-a-co-segregation-of-the-controversial-variant-p-r305w
#17
Jackson Gao, Leera D'Souza, Keith Wetherby, Christian Antolik, Melissa Reeves, David R Adams, Santa Tumminia, Xinjing Wang
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant either in the TYR or the OCA2 gene. Diagnostic sequencing of the TYR and OCA2 genes is routinely used for molecular diagnosis of OCA subtypes. To study the possibility that genomic abnormalities with single or multiple exon involvement may account for a portion of the potential missing pathogenic variants (the second), we retrospectively analyzed the TYR gene by long range PCR and analyzed the target 2...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28442557/high-phosphate-induces-a-pro-inflammatory-response-by-vascular-smooth-muscle-cells-modulation-by-vitamin-d-derivatives
#18
Julio M Martínez-Moreno, Carmen Herencia, Addy Montes de Oca, Juan M Díaz-Tocados, Noemi Vergara, Mª José Gomez, Silvia D López-Argüello, Antonio Camargo, Esther Peralbo-Santaella, Maria E Rodríguez-Ortiz, Antonio Canalejo, Mariano Rodriguez, Juan R Muñoz-Castañeda, Yolanda Almaden
In chronic kidney disease patients, high phosphate (HP) levels are associated to cardiovascular disease, the major cause of morbidity and mortality. Since serum phosphate has been independently correlated with inflammation, the present study aimed to investigate an independent direct effect of HP as a pro-inflammatory factor in VSMCs. A possible modulatory effect of vitamin D was also investigated. The study was performed in an in vitro model of human aortic smooth muscle cells (HASMCs). Incubation of cells in a HP (3...
April 25, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28431499/asthma-copd-overlap-syndrome-acos-in-primary-care-of-four-latin-america-countries-the-puma-study
#19
Maria Montes de Oca, Maria Victorina Lopez Varela, Maria E Laucho-Contreras, Alejandro Casas, Eduardo Schiavi, Juan Carlos Mora
BACKGROUND: Asthma-COPD overlap syndrome (ACOS) prevalence varies depending on the studied population and definition criteria. The prevalence and clinical characteristics of ACOS in an at-risk COPD primary care population from Latin America was assessed. METHODS: Patients ≥40 years, current/ex-smokers and/or exposed to biomass, attending routine primary care visits completed a questionnaire and performed spirometry. COPD was defined as post-bronchodilator forced expiratory volume in 1 s/forced vital capacity (FEV1/FVC) < 0...
April 21, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#20
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
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