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Anthony Adimonye, Elzbieta Stankiewicz, Susannah La-Touche, Sakunthala Kudahetti, Giorgia Trevisan, Brendan Tinwell, Cathy Corbishley, Yong-Jie Lu, Nick Watkin, Daniel Berney
BACKGROUND: Therapeutic targeting of the PI3K-AKT-mTOR pathway may benefit patients with advanced penile squamous cell carcinoma (PSCC). OBJECTIVES: To determine the prevalence of PIK3CA copy number gain and correlate this with the activity status of PI3K-AKT-mTOR pathway in pre-malignant penile intraepithelial neoplasia (PeIN) and invasive PSCC. MATERIALS AND METHODS: Archival tissue blocks were obtained from 58 PeIN and 244 primary PSCC patients treated at St George's Hospital...
2018: PloS One
Verónica Botero, Victor H Garcia, Catalina Gomez-Duarte, Ana M Aristizabal, Ana M Arrunategui, Gabriel J Echeverri, Harry Pachajoa
BACKGROUND Lysosomal acid lipase deficiency is a rare genetic metabolic lipid storage disease, with a high morbidity, and mortality, in children and adults. It is characterized by a mutation in the LIPA gene that causes an alteration of lipid metabolism, resulting in deposits of cholesterol esters and triglycerides in organs such as the liver, blood vessels, and gastrointestinal tract. Lysosomal acid lipase deficiency is predominantly caused by the mutation c.894G>A, seen in approximately 50-70% of patients...
June 9, 2018: American Journal of Case Reports
Francesca Rollo, Maria Gabriella Dona', Raul Pellini, Barbara Pichi, Ferdinando Marandino, Renato Covello, Maria Benevolo
OBJECTIVE: Cervical lymph node Fine Needle Aspirates (FNAs) may represent the only specimens available for an initial characterization of patients with lymphadenopathy. Morphology and HPV-DNA presence were evaluated in FNAs collected from patients with oropharyngeal cancer (OPSCC) or cancer of unknown primary (CUP). FNA HPV results were compared with those of the respective formalin-fixed paraffin-embedded (FFPE) primary cancer. METHODS: Liquid-based cytology was performed on FNAs collected in PreservCyt...
June 6, 2018: Cytopathology: Official Journal of the British Society for Clinical Cytology
Helen Kelly, Helena Faust, Admire Chikandiwa, Jean Ngou, Helen A Weiss, Michel Segondy, Joakim Dillner, Sinead Delany-Moretlwe, Philippe Mayaud
Background: Human papillomavirus (HPV) serodynamics following infection has never been evaluated prospectively among women living with HIV (WLHIV). We determined HPV seroprevalence, seroconversion, and cervical HPV-DNA acquisition among WLHIV. Methods: Prospective study of 604 WLHIV in Johannesburg, South Africa aged 25-50 years. At baseline and 16 months (endline), HPV type-specific antibodies (HPV6/11/16/18/31/33/35/39/45/52/56/58/59/68/73) were measured using HPV-pseudovirions and cervical HPV-DNA genotypes using INNO-LiPA...
May 30, 2018: Journal of Infectious Diseases
C H Bretagne, V Jooste, D Guenat, D Riethmuller, A M Bouvier, I Bedgedjian, J L Prétet, S Valmary-Degano, C Mougin
BACKGROUND: Despite the availability of safe and effective HPV vaccines in France, more than 80% of girls remain unvaccinated. SETTING: A regional university hospital referral centre in France. OBJECTIVE: To estimate the overall prevalence and distribution of HPV in vaccinated, sexually active young French women who were screened for cervical cancer by cytology and HPV testing. METHODS: High-risk HPV (HR-HPV) prevalence, genotype-specific prevalence and extent of multiple infections were assessed in 125 cervical samples from females with available vaccine data using hc2 assay and INNO-LiPA assay...
May 25, 2018: Journal of Gynecology Obstetrics and Human Reproduction
Y X Zhang, M B Liu, H Huang, W Chen, B Zhang
Objective: To summarize the clinicopathological characteristics and prognostic factors of squamous cell carcinoma (SCC) of the base of tongue (BOT). Method: Review the clinical data of 124 cases of patients with BOT tumors. HPV-DNA was detected using SPF10-DNA enzyme immunoassay and LiPA genotyping method. Survival rates and prognostic factors was calculated with SPSS 19.0 software using the Kaplan-Meier method and multivariate Cox model survival analysis. Result: 5-year disease-specific survival (DSS), 5-year overall survival and median survival time for patients with SCC BOT were 54...
December 20, 2017: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
Lina Qin, Xianzhang Jiang, Zhiyang Dong, Jianzhong Huang, Xiuzhen Chen
Background: The ascomycete fungus Trichoderma reesei was widely used as a biotechnological workhorse for production of cellulases and recombinant proteins due to its large capacity of protein secretion. Transgenesis by random integration of a gene of interest (GOI) into the genome of T. reesei can generate series of strains that express different levels of the indicated transgene. The insertion site of the GOI plays an important role in the ultimate production of the targeted proteins...
2018: Biotechnology for Biofuels
Guy Shalom, Lipa Bodner, Sima Halevy
BACKGROUND: Melkersson-Rosenthal Syndrome (MRS) is a rare syndrome. Recently, possible association between MRS and psoriasis was reported. Our objective is to evaluate the presence of co-morbidities in MRS with a focus on psoriasis-related morbidities. METHODS: We conducted a case-control study consisting of a series of 12 patients with MRS and two groups of age- and gender-matched controls: 30 patients with psoriasis vulgaris and 28 patients with acute contact dermatitis...
May 16, 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
Amanda J Hooper, John R Burnett, Damon A Bell, Gerald F Watts
PURPOSE OF REVIEW: We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT FINDINGS: The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy number variants can be detected. However, increasing the number of genes tested increases the number of variants detected, which may or may not be pathogenic...
May 19, 2018: Current Atherosclerosis Reports
Mourad Ben Said, Alaa Ben Asker, Hanène Belkahia, Raoua Ghribi, Rachid Selmi, Lilia Messadi
Anaplasma marginale, which is responsible for bovine anaplasmosis in tropical and subtropical regions, is a tick-borne obligatory intraerythrocytic bacterium of cattle and wild ruminants. In Tunisia, information about the genetic diversity and the phylogeny of A. marginale strains are limited to the msp4 gene analysis. The purpose of this study is to investigate A. marginale isolates infecting 16 cattle located in different bioclimatic areas of northern Tunisia with single gene analysis and multilocus sequence typing methods on the basis of seven partial genes (dnaA, ftsZ, groEL, lipA, secY, recA and sucB)...
May 12, 2018: Ticks and Tick-borne Diseases
Robson Carlos Alnoch, Adriano Alves Stefanello, Viviane de Paula Martini, Jeferson Luiz Richter, Cesar Mateo, Emanuel Maltempi de Souza, David Alexander Mitchell, Marcelo Muller-Santos, Nadia Krieger
Genes encoding lipase LipBC (lipA) and foldase LifBC (lipB) were identified in the genome of Burkholderia contaminans LTEB11. Analysis of the predicted amino acid sequence of lipA showed its high identity with lipases from Pseudomonas luteola (91%), Burkholderia cepacia (96%) and Burkholderia lata (97%), and classified LipBC lipase in the lipase subfamily I.2. The genes lipA and lipB were amplified and cloned into expression vectors pET28a(+) and pT7-7, respectively. His-tagged LipBC and native LifBC were co-expressed in Escherichia coli and purified...
May 15, 2018: International Journal of Biological Macromolecules
Ben-Zion Joshua, Lipa Bodner, Ruthy Shaco-Levy
Lipoma is a very common soft tissue neoplasm, but only infrequently found in the oral region. Intramuscular lipoma (IML) is a relatively common variant of lipoma. The most common site for IML is the large muscles of the extremities, and it is quite rare in the oral cavity. A case of IML affecting the floor of the mouth/tongue of a 42-year-old female is described. The patient presented with a 4 cm diameter yellow mass in the right side of the sublingual area. Axial and coronal magnetic resonance imaging demonstrated its infiltrating nature that can be distinguished from the ordinary well-encapsulated lesion...
2018: Case Reports in Medicine
L Wang, M Y Jiang, Y Qin, L Li, Z N Wu, T Y Li, T Wu, W Chen
Objective: To evaluate the feasibility and effectiveness of isothermal human papillomavirus (HPV) DNA amplification test as a primary screening test in the early detection of cervical cancer. Methods: From June to August 2016, 2, 774 women aged 30-64 years old from Inner Mongolia were recruited for cervical cancer screening. HPV DNA was detected by Isomega and cobas4800. INNO-LiPA HPV Genotyping Extra was served as a reference method for the cases whose results were inconsistent by using these two methods. Histological diagnosis was considered as a gold standard to estimate the effectiveness and accuracy of Isomega and cobas4800 for detecting CIN2 or greater...
April 23, 2018: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
Jessica E Lipa, Brian M Worthmann, David R Dowling
Conventional frequency-domain acoustic-field analysis techniques are typically limited to the bandwidth of the field under study. However, this limitation may be too restrictive, as prior work suggests that field analyses may be shifted to lower or higher frequencies that are outside the field's original bandwidth [Worthmann and Dowling (2017). J. Acoust. Soc. Am. 141(6), 4579-4590]. This possibility exists because below- and above-band acoustic fields can be mimicked by the frequency-difference and frequency-sum autoproducts, which are quadratic products of frequency-domain complex field amplitudes at a pair of in-band frequencies...
April 2018: Journal of the Acoustical Society of America
Admire Chikandiwa, Helen Kelly, Bernard Sawadogo, Jean Ngou, Pedro T Pisa, Lorna Gibson, Marie-Noelle Didelot, Nicolas Meda, Helen A Weiss, Michel Segondy, Philippe Mayaud, Sinead Delany-Moretlwe
OBJECTIVE: To report the prevalence and incidence of low-risk human papillomavirus infection (LR-HPV) and anogenital warts (AGW) among women living with HIV (WLHIV) in Burkina Faso (BF) and South Africa (SA), and to explore HIV-related factors associated with these outcomes. METHODS: We enrolled 1238 WLHIV (BF = 615; SA = 623) aged 25-50 years and followed them at three time points (6, 12 and 16 months) after enrolment. Presence of AGW was assessed during gynaecological examination...
2018: PloS One
Faten Tinsa, Manel Ben Romdhane, Hela Boudabous, Imen Bel Hadj, Ines Brini, Neji Tebib, Hela Louati, Soumeya Bekri, Khadija Boussetta
Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Genetic sequence analysis of the LIPA gene revealed homozygous mutation c.153 C>A (p.Tyr51*). The parents were heterozygous for this mutation...
April 26, 2018: Journal of Pediatric Hematology/oncology
Anthony Adimonye, Elzbieta Stankiewicz, Sakunthala Kudahetti, Giorgia Trevisan, Brendan Tinwell, Cathy Corbishley, Yong-Jie Lu, Nick Watkin, Daniel Berney
Objectives: To determine whether phosphatidylinositol-4,5-bisphosphate 3- kinase, catalytic subunit alpha (PIK3CA) copy number gain is common and could prove a useful marker for the activation status of the PI3K-AKT-mTOR pathway in penile squamous cell carcinoma (PSCC). Methods: Fresh frozen tissue and archival blocks were collected from 24 PSCC patients with 15 matched normal penile epithelium (NPE) tissue from St George's Hospital. PIK3CA mutational and copy number status (CNS) was assessed via Sanger sequencing and fluorescence in-situ hybridisation, respectively...
March 23, 2018: Oncotarget
So Young Eun, Joon No Lee, In-Koo Nam, Zhi-Qiang Liu, Hong-Seob So, Seong-Kyu Choe, RaeKil Park
Defects in the PEX5 gene impair the import of peroxisomal matrix proteins, leading to nonfunctional peroxisomes and other associated pathological defects such as Zellweger syndrome. Although PEX5 regulates autophagy process in a stress condition, the mechanisms controlling autophagy by PEX5 under nutrient deprivation are largely unknown. Herein, we show a novel function of PEX5 in the regulation of autophagy via Transcription Factor EB (TFEB). Under serum-starved conditions, when PEX5 is depleted, the mammalian target of rapamycin (mTORC1) inhibitor TSC2 is downregulated, which results in increased phosphorylation of the mTORC1 substrates, including 70S6K, S6K, and 4E-BP-1...
April 6, 2018: Experimental & Molecular Medicine
Yi Deng, Yao Nie, Yu Zhang, Yue Wang, Yan Xu
Pullulanase is crucial to the specific hydrolysis of branch points in amylopectin and is generally employed as an important enzyme in the starch-processing industry. Recombinant Bacillus subtilis that employs an inducible promoter would be a suitable candidate for pullulanase expression because of its safety and controllable production, but its level of pullulanase activity is relatively low. In this study, we investigated the effect of the enhancers DegQ, DegU, and DegS on pullulanase expression in a recombinant B...
August 2018: Protein Expression and Purification
Ana E Zacapala-Gómez, Napoleón Navarro-Tito, Luz Del C Alarcón-Romero, Carlos Ortuño-Pineda, Berenice Illades-Aguiar, Eduardo Castañeda-Saucedo, Julio Ortiz-Ortiz, Olga L Garibay-Cerdenares, Marco A Jiménez-López, Miguel A Mendoza-Catalán
BACKGROUND: Cervical cancer (CC) is the fourth cause of mortality by neoplasia in women worldwide. The use of immunomarkers is an alternative tool to complement currently used algorithms for detection of cancer, and to improve selection of therapeutic schemes. Aberrant expression of Ezrin and E-cadherin play an important role in tumor invasion. In this study we analyzed Ezrin and E-cadherin expression in liquid-based cervical cytology samples, and evaluated their potential use as prognostic immunomarkers...
March 27, 2018: BMC Cancer
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