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https://www.readbyqxmd.com/read/29234937/-lysosomal-acid-lipase-deficiency-lal-d-diagnostic-and-therapeutic-options-in-an-underdiagnosed-disease
#1
REVIEW
S Synoracki, S Kathemann, K W Schmid, H Jastrow, H A Baba
BACKGROUND AND CLINICAL SETTING: Lysosomal acid lipase deficiency is an autosomal recessive storage disease caused by mutations in the LIPA gene. The accumulation of cholesteryl esters and triglycerides in hepatocytes lead to hepatomegaly with progressive fibrosis and liver cirrhosis. Characteristically, patients have a hepatomegaly combined with high serum levels of cholesterol, LDL-cholesterol and in some cases triglyceride, whereas HDL-cholesterol is decreased. Histologically, hepatocytes show a microvesicular steatosis with typically ballooned Kupffer cells...
December 12, 2017: Der Pathologe
https://www.readbyqxmd.com/read/29214758/comparison-of-four-human-papillomavirus-genotyping-methods-next-generation-sequencing-inno-lipa-electrochemical-dna-chip-and-nested-pcr
#2
Pornjarim Nilyanimit, Jira Chansaenroj, Witthaya Poomipak, Kesmanee Praianantathavorn, Sunchai Payungporn, Yong Poovorawan
BACKGROUND: Human papillomavirus (HPV) infection causes cervical cancer, thus necessitating early detection by screening. Rapid and accurate HPV genotyping is crucial both for the assessment of patients with HPV infection and for surveillance studies. METHODS: Fifty-eight cervicovaginal samples were tested for HPV genotypes using four methods in parallel: nested-PCR followed by conventional sequencing, INNO-LiPA, electrochemical DNA chip, and next-generation sequencing (NGS)...
March 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29212458/associations-of-sedentary-behavior-and-physical-activity-with-older-adults-physical-function-an-isotemporal-substitution-approach
#3
Akitomo Yasunaga, Ai Shibata, Kaori Ishii, Mohammad Javad Koohsari, Shigeru Inoue, Takemi Sugiyama, Neville Owen, Koichiro Oka
BACKGROUNDS: The purpose of this study was to examine, in a sample of Japanese older adults, the associations of objectively-assessed sedentary behavior (SB) and physical activity (PA) with performance-based physical function. The isotemporal substitution (IS) approach was used to model simultaneously the effects of the specific activity being performed and the activity being displaced, in an equal time-exchange manner. METHODS: Among 287 older adults (65-84 years), we used accelerometers to identify the daily average time spent on SB (≤1...
December 6, 2017: BMC Geriatrics
https://www.readbyqxmd.com/read/29204715/insight-into-the-reaction-mechanism-of-lipoyl-synthase-a-qm-mm-study
#4
Geng Dong, Lili Cao, Ulf Ryde
Lipoyl synthase (LipA) catalyses the final step of the biosynthesis of the lipoyl cofactor by insertion of two sulfur atoms at the C6 and C8 atoms of the protein-bound octanoyl substrate. In this reaction, two [4Fe4S] clusters and two molecules of S-adenosyl-L-methionine are used. One of the two FeS clusters is responsible for the generation of a powerful oxidant, the 5'-deoxyadenosyl radical (5'-dA•). The other (the auxiliary cluster) is the source of both sulfur atoms that are inserted into the substrate...
December 4, 2017: Journal of Biological Inorganic Chemistry: JBIC
https://www.readbyqxmd.com/read/29196158/prevalence-of-cholesteryl-ester-storage-disease-among-hypercholesterolemic-subjects-and-functional-characterization-of-mutations-in-the-lysosomal-acid-lipase-gene
#5
Terje Vinje, Lene Wierød, Trond P Leren, Thea Bismo Strøm
Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides contained in low density lipoprotein. Patients who are homozygous or compound heterozygous for mutations in the lysosomal acid lipase gene (LIPA), and have some residual enzymatic activity, have cholesteryl ester storage disease. One of the clinical features of this disease is hypercholesterolemia. Thus, patients with hypercholesterolemia who do not carry a mutation as a cause of autosomal dominant hypercholesterolemia, may actually have cholesteryl ester storage disease...
November 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29185266/are-vaginal-swabs-comparable-to-cervical-smears-for-human-papillomavirus-dna-testing
#6
Liselotte Coorevits, Ans Traen, Luc Bingé, Jo Van Dorpe, Marleen Praet, Jerina Boelens, Elizaveta Padalko
OBJECTIVE: Human papillomavirus (HPV) testing is widely incorporated into cervical cancer screening strategies. Current screening requires pelvic examination for cervical sampling, which may compromise participation. The acceptance could be raised by introducing testing on vaginal swabs. We explored the interchangeability of vaginal swabs and cervical smears for HPV testing, by means of a prospective study conducted in female sex workers (FSWs). Besides, we report on the occurrence of 32 different HPV genotypes in FSW with low-grade squamous intraepithelial lesion (LSIL) or high-grade squamous intraepithelial lesion (HSIL)...
January 2018: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/29177377/-epidermolysis-bullosa-in-peru-clinical-and-epidemiological-study-of-patients-treated-in-a-national-reference-pediatric-hospital-1993-2015
#7
Rosario Torres-Iberico, Patricia Palomo-Luck, Gilmer Torres-Ramos, Roxana Lipa-Chancolla
OBJECTIVES: To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease. MATERIALS AND METHODS: Observational, descriptive and transversal study. We reviewed the clinical histories and laboratory tests of patients diagnosed with EB treated in INSN from 1993 to 2015. RESULTS: 93 patients were registered...
April 2017: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/29170530/identification-and-analysis-of-seven-effector-protein-families-with-different-adaptive-and-evolutionary-histories-in-plant-associated-members-of-the-xanthomonadaceae
#8
Renata de A B Assis, Lorraine Cristina Polloni, José S L Patané, Shalabh Thakur, Érica B Felestrino, Julio Diaz-Caballero, Luciano Antonio Digiampietri, Luiz Ricardo Goulart, Nalvo F Almeida, Rafael Nascimento, Abhaya M Dandekar, Paulo A Zaini, João C Setubal, David S Guttman, Leandro Marcio Moreira
The Xanthomonadaceae family consists of species of non-pathogenic and pathogenic γ-proteobacteria that infect different hosts, including humans and plants. In this study, we performed a comparative analysis using 69 fully sequenced genomes belonging to this family, with a focus on identifying proteins enriched in phytopathogens that could explain the lifestyle and the ability to infect plants. Using a computational approach, we identified seven phytopathogen-enriched protein families putatively secreted by type II secretory system: PheA (CM-sec), LipA/LesA, VirK, and four families involved in N-glycan degradation, NixE, NixF, NixL, and FucA1...
November 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29114435/hepatitis-c-virus-genie-a-web-2-0-interpretation-and-analytics-platform-for-the-versant-hepatitis-c-virus-genotype-line-probe-assay-version-2-0
#9
Alex M Dussaq, Abha Soni, Christopher Willey, Seung L Park, Shuko Harada
Context: Hepatitis C virus (HCV) genotyping at our institution is performed using the Versant HCV genotype 2.0 Line Probe Assay (LiPA). The last steps of this procedure are manual, laborious, and error-prone process that involves the comparison of the banding pattern on a test strip to a physical reference table. Aim: We developed a web-based HCV genotype interpretation platform that utilizes a scanned image to generate the genotypes, thus minimizing interpretation time and reducing error...
2017: Journal of Pathology Informatics
https://www.readbyqxmd.com/read/29094929/structural-basis-for-the-serratia-marcescens-lipase-secretion-system-crystal-structures-of-the-membrane-fusion-protein-and-nucleotide-binding-domain
#10
Daichi Murata, Hiroyuki Okano, Clement Angkawidjaja, Masato Akutsu, Shun-Ichi Tanaka, Kenyu Kitahara, Takuya Yoshizawa, Hiroyoshi Matsumura, Yuji Kado, Eiichi Mizohata, Tsuyoshi Inoue, Satoshi Sano, Yuichi Koga, Shigenori Kanaya, Kazufumi Takano
Serratia marcescens secretes a lipase, LipA, through a type I secretion system (T1SS). The T1SS for LipA, the Lip system, is composed of an inner membrane ABC transporter with its nucleotide-binding domains (NBD), LipB, a membrane fusion protein, LipC, and an outer membrane channel protein, LipD. Passenger protein secreted by this system has been functionally and structurally characterized well, but relatively little information about the transporter complex is available. Here, we report the crystallographic studies of LipC without the membrane anchor region, LipC-, and the NBD of LipB (LipB-NBD)...
November 10, 2017: Biochemistry
https://www.readbyqxmd.com/read/29091308/in-vivo-and-in-vitro-effects-of-pth1-34-on-osteogenic-and-adipogenic-differentiation-of-human-bone-marrow-derived-mesenchymal-stem-cells-through-regulating-microrna-155
#11
Huan-Sheng Han, Fang Ju, Shuo Geng
This study aimed to investigate the effect of parathyroid hormone (PTH1-34) on osteogenic and adipogenic differentiation of hBMSCs by the regulation of miR-155. A total of 36 adult volunteers were selected in this study. Effects of PTH1-34 on the proliferation of hBMSCs and miR-155 expression were investigated using a MTT assay. The hBMSCs were divided into blank, PTH1-34, miR-155 mimic, miR-155 mimic negative control (NC), miR-155 inhibitor, miR-155 inhibitor NC, PTH1-34 + miR-155 mimic, PTH1-34 + miR-155 inhibitor and NPS R-568 groups...
November 1, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29057431/is-routine-performance-of-the-uterine-cervix-canal-curettage-prior-to-the-curettage-of-the-uterine-cavity-justified
#12
Szymon Piątek, Jacek Lipa, Monika Górska, Katarzyna Malecha, Grzegorz Panek, Mirosław Wielgoś
OBJECTIVES: Endocervical curettage (ECC) together with the dilatation and curettage of the uterine cavity (D & C) is routinely performed in everyday clinical practice. The aim of this study is to assess the rationale of the performance of ECC prior to D & C in indications other than abnormal uterine bleeding (AUB). MATERIAL AND METHODS: Case histories of 736 patients after ECC performed in the 1st Department of Obstetrics and Gynaecology, Medical University of Warsaw, were analyzed retrospectively, the indications for the procedure - age, menopausal status, parity, procedure operator's experience - as well as the result of the histopathology examination were taken into account...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/29056428/a-lipoylated-metabolic-protein-released-by-staphylococcus-aureus-suppresses-macrophage-activation
#13
James P Grayczyk, Cameron J Harvey, Irina Laczkovich, Francis Alonzo
The virulence factors of pathogenic microbes often have single functions that permit immune suppression. However, a proportion possess multiple activities and are considered moonlighting proteins. By examining secreted virulence factors of Staphylococcus aureus, we determine that the bacterial lipoic acid synthetase LipA suppresses macrophage activation. LipA is known to modify the E2 subunit of the metabolic enzyme complex pyruvate dehydrogenase (E2-PDH) with a fatty acid derivative, lipoic acid, yielding the metabolic protein lipoyl-E2-PDH...
November 8, 2017: Cell Host & Microbe
https://www.readbyqxmd.com/read/29051382/destruction-and-reformation-of-an-iron-sulfur-cluster-during-catalysis-by-lipoyl-synthase
#14
Erin L McCarthy, Squire J Booker
Lipoyl synthase (LipA) catalyzes the last step in the biosynthesis of the lipoyl cofactor, which is the attachment of two sulfhydryl groups to C6 and C8 of a pendant octanoyl chain. The appended sulfur atoms derive from an auxiliary [4Fe-4S] cluster on the protein that is degraded during turnover, limiting LipA to one turnover in vitro. We found that the Escherichia coli iron-sulfur (Fe-S) cluster carrier protein NfuA efficiently reconstitutes the auxiliary cluster during LipA catalysis in a step that is not rate-limiting...
October 20, 2017: Science
https://www.readbyqxmd.com/read/29045810/a-novel-next-generation-sequencing-assay-as-an-alternative-to-currently-available-methods-for-hepatitis-c-virus-genotyping
#15
G Dirani, E Paesini, E Mascetra, P Farabegoli, B Dalmo, B Bartolini, A R Garbuglia, M R Capobianchi, V Sambri
Chronic HCV infection is one of the leading causes of liver-related death and in many countries it is a primary reason for having a liver transplant. HCV genotype identification has long been used in the clinical practice, since different genotypes have different response rates and required different doses and durations of IFN/RBV treatment; moreover both the frequency and the pattern of resistance to different Direct-Acting Antivirals (DAAs) classes are subtype specific. Hence the necessity to make an accurate HCV subtyping becomes a fundamental tool to optimize current and future clinical management of HCV infected subjects...
January 2018: Journal of Virological Methods
https://www.readbyqxmd.com/read/29041190/differential-optical-shadow-sensor-for-sub-nanometer-displacement-measurement-and-its-application-to-drag-free-satellites
#16
Andreas Zoellner, Si Tan, Shailendhar Saraf, Abdul Alfauwaz, Dan DeBra, Sasha Buchman, John A Lipa
We present a method for 3D sub-nanometer displacement measurement using a set of differential optical shadow sensors. It is based on using pairs of collimated beams on opposite sides of an object that are partially blocked by it. Applied to a sphere, our 3-axis sensor module consists of 8 parallel beam-detector sets for redundancy. The sphere blocks half of each beam's power in the nominal centered position, and any displacement can be measured by the differential optical power changes amongst the pairs of detectors...
October 16, 2017: Optics Express
https://www.readbyqxmd.com/read/29026820/a-qualitative-assessment-of-the-journey-to-delayed-breast-reconstruction
#17
Ho Man Cheng, Catherine McMillan, Joan E Lipa, Laura Snell
BACKGROUND: Canada has low immediate breast reconstruction (IBR) rates compared to the United States and Europe. Breast cancer survivors live with mastectomy defects sometimes for years, and this represents an area for improvement in cancer care. PURPOSE: This study qualitatively assessed (1) information provided about breast reconstruction at the time of cancer diagnosis among women seeking delayed breast reconstruction (DBR) and (2) referral practices for plastic surgery consultation for DBR...
August 2017: Plastic Surgery
https://www.readbyqxmd.com/read/29024035/the-role-of-human-papillomavirus-in-p16-positive-oral-cancers
#18
Simone Belobrov, Alyssa M Cornall, Richard J Young, Kendrick Koo, Christopher Angel, David Wiesenfeld, Danny Rischin, Suzanne M Garland, Michael McCullough
BACKGROUND: The aim of the present study was to identify the presence and frequency of human papillomavirus (HPV) nucleic acid in p16 positive oral squamous cell carcinomas (OSCC), to assess if the virus were transcriptionally active, and to assess the utility of p16 overexpression as a surrogate marker for HPV in OSCC. METHODS: Forty-six OSCC patients treated between 2007 and 2011 with available formalin-fixed paraffin embedded (FFPE) specimens were included. Twenty-three patients were positive for p16 by immunohistochemistry (IHC) and these were matched with 23 patients with p16 negative tumours...
October 11, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28963005/production-enhancement-of-the-extracellular-lipase-lipa-in-bacillus-subtilis-effects-of-expression-system-and-sec-pathway-components
#19
Ran Jing Ma, Yan Hong Wang, Lu Liu, Lei Lei Bai, Rui Ban
Lipases are among the most versatile biocatalysts, and are used in a range of industrially relevant bioconversion reactions. However, the production of LipA in recombinant Bacillus subtilis is still limited, due to unresolved issues surrounding the regulation of the expression and secretion systems. In this study, the gene encoding LipA from B. subtilis 168 was expressed in BNA under the control of the P43 and the PAE promoter. The extracellular lipase activity of the resulting strains BNACL and BNAAL was 7...
September 27, 2017: Protein Expression and Purification
https://www.readbyqxmd.com/read/28958330/genetically-confirmed-familial-hypercholesterolemia-in-patients-with-acute-coronary-syndrome
#20
Almudena Amor-Salamanca, Sergio Castillo, Emiliano Gonzalez-Vioque, Fernando Dominguez, Lucía Quintana, Carla Lluís-Ganella, Juan Manuel Escudier, Javier Ortega, Enrique Lara-Pezzi, Luis Alonso-Pulpon, Pablo Garcia-Pavia
BACKGROUND: Genetic screening programs in unselected individuals with increased levels of low-density lipoprotein cholesterol (LDL-C) have shown modest results in identifying individuals with familial hypercholesterolemia (FH). OBJECTIVES: This study assessed the prevalence of genetically confirmed FH in patients with acute coronary syndrome (ACS) and compared the diagnostic performance of FH clinical criteria versus FH genetic testing. METHODS: Genetic study of 7 genes (LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1, and LIPA) associated with FH and 12 common alleles associated with polygenic hypercholesterolemia was performed in 103 patients with ACS, age ≤65 years, and LDL-C levels ≥160 mg/dl...
October 3, 2017: Journal of the American College of Cardiology
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