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https://www.readbyqxmd.com/read/28401034/targeting-wolman-disease-and-cholesteryl-ester-storage-disease-disease-pathogenesis-and-therapeutic-development
#1
REVIEW
Francis Aguisanda, Natasha Thorne, Wei Zheng
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive...
2017: Current Chemical Genomics and Translational Medicine
https://www.readbyqxmd.com/read/28400281/the-pseudomonas-transcriptional-regulator-algr-controls-lipa-expression-via-the-noncoding-rna-rsmz-in-pseudomonas-protegens-pf-5
#2
Menggang Li, Jinyong Yan, Yunjun Yan
Pseudomonas lipases are well studied enzymes. However, few studies have been conducted to explore the mechanism underlying the regulation of lipases expression. AlgR, a global regulator, controls the expression of multiple genes, regulates bacterial peristalsis, and participates in the regulation of quorum-sensing (QS) system, and so on. In this study, the effect of AlgR on lipase expression was investigated by knocking out the algR and rsmZ genes or overexpressing them. It is found out that AlgR can regulate the expression of lipA at both transcriptional and translational levels, but the transcriptional level was dominant...
April 8, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28399607/surgeon-reported-needs-for-improved-training-in-identifying-and-managing-free-flap-compromise
#3
Catherine McMillan, Veerle D'Hondt, Alexandra H Marshall, Paul Binhammer, Joan Lipa, Laura Snell
Background This study examined the need for improved training in the identification and management of free flap (FF) compromise and assessed a potential role for simulated scenario training. Methods Online needs assessment surveys were completed by plastic surgeons and a subsample with expertise in microsurgery education participated in focus groups. Data were analyzed using descriptive statistics and mixed qualitative methods. Results In this study, 77 surgeons completed surveys and 11 experts participated in one of two focus groups...
April 11, 2017: Journal of Reconstructive Microsurgery
https://www.readbyqxmd.com/read/28399426/hpv-related-external-genital-lesions-among-men-residing-in-brazil
#4
Roberto J C Silva, Staci L Sudenga, Laura Sichero, Maria Luiza Baggio, Lenice Galan, Ricardo Cintra, B Nelson Torres, Mark Stoler, Anna R Giuliano, Luisa L Villa
The aims of this study were to determine the incidence of external genital lesions (EGLs), specifically histologically confirmed condyloma (genital warts) and Penile Intraepithelial Neoplasia (PeIN), and genital HPV infection progression to EGLs among healthy men aged 18-73 residing in Brazil. Subjects included 1118 men enrolled in the HPV Infection in Men (HIM) study between July 2005 and June 2009. At each visit, EGLs were biopsied and subjected to pathological evaluation. HPV status in genital swabs and biopsies was determined by Linear Array and INNO-LiPA, respectively...
April 8, 2017: Brazilian Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28391883/childhood-adult-onset-lysosomal-acid-lipase-deficiency-a-serious-metabolic-and-vascular-phenotype-beyond-liver-disease-four-new-pediatric-cases
#5
Pierre Poinsot, Sophie Collardeau Frachon, Lioara Restier, André Sérusclat, Mathilde Di Filippo, Sybil Charrière, Philippe Moulin, Alain Lachaux, Noel Peretti
BACKGROUND: The childhood/adult-onset lysosomal acid lipase deficiency (LALD; late-onset LALD) is a rare genetic disease. Children present severe fatty liver disease with early cirrhosis. Before enzyme replacement therapy, statins were the standard treatment to improve the severe dyslipidemia. However, late-onset LALD should be considered as a systemic metabolic disease: chronic hyper-low-density lipoprotein and hypo-high-density lipoprotein cholesterolemia induces early atherosclerosis in addition to the liver morbidity...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28389708/mathematical-modeling-and-experimental-validation-of-nanoemulsion-based-drug-transport-across-cellular-barriers
#6
Ekta Kadakia, Lipa Shah, Mansoor M Amiji
PURPOSE: Nanoemulsions have shown potential in delivering drug across epithelial and endothelial cell barriers, which express efflux transporters. However, their transport mechanisms are not entirely understood. Our goal was to investigate the cellular permeability of nanoemulsion-encapsulated drugs and apply mathematical modeling to elucidate transport mechanisms and sensitive nanoemulsion attributes. METHODS: Transport studies were performed in Caco-2 cells, using fish oil nanoemulsions and a model substrate, rhodamine-123...
April 7, 2017: Pharmaceutical Research
https://www.readbyqxmd.com/read/28380884/measuring-finesse-and-gas-absorption-with-lorentzian-recovery-spectroscopy
#7
Si Tan, Paul Berceau, Shailendhar Saraf, John A Lipa
In this paper we present a method for obtaining accurate finesse by recovering the Lorentzian profile of cavity resonances with a laser continuously locked to the cavity and apply it to weak gas absorption measurements. The technique was implemented on our noise-immune cavity-enhanced optical heterodyne molecular spectroscopy (NICE-OHMS) experimental setup. The measurement is performed in the cavity-locked regime, leading to high repeatability and easy automation. The technique involves locking the carrier to a fundamental mode of the cavity and sweeping a second set of sidebands across adjacent cavity modes...
April 3, 2017: Optics Express
https://www.readbyqxmd.com/read/28374935/prenatal-sonographic-findings-in-a-case-of-wolman-s-disease
#8
Matthew J Blitz, Burton Rochelson, Monica Sood, Martin G Bialer, Nidhi Vohra
No published case of Wolman's disease has described the prenatal sonographic findings. We present a case in which a third-trimester sonographic examination demonstrated fetal hepatomegaly and bilateral adrenal echogenicity suggestive of diffuse calcification. Wolman's disease, also known as lysosomal acid lipase (LIPA) deficiency, is a rare autosomal-recessive disorder characterized by complete absence of the LIPA enzyme. The diagnosis of Wolman's disease was made postnatally by biochemical testing, which indicated absence of LIPA enzyme activity and gene sequencing, which confirmed homozygosity for the G66V mutation within the LIPA gene...
April 4, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28361051/on-the-role-of-additional-4fe-4s-clusters-with-a-free-coordination-site-in-radical-sam-enzymes
#9
REVIEW
Etienne Mulliez, Victor Duarte, Simon Arragain, Marc Fontecave, Mohamed Atta
The canonical CysXXXCysXXCys motif is the hallmark of the Radical-SAM superfamily. This motif is responsible for the ligation of a [4Fe-4S] cluster containing a free coordination site available for SAM binding. The five enzymes MoaA, TYW1, MiaB, RimO and LipA contain in addition a second [4Fe-4S] cluster itself bound to three other cysteines and thus also displaying a potentially free coordination site. This review article summarizes recent important achievements obtained on these five enzymes with the main focus to delineate the role of this additional [4Fe-4S] cluster in catalysis...
2017: Frontiers in Chemistry
https://www.readbyqxmd.com/read/28349438/combinatorial-labeling-method-for-improving-peptide-fragmentation-in-mass-spectrometry
#10
Bhanuramanand Kuchibhotla, Sankara Rao Kola, Jagannadham V Medicherla, Swamy V Cherukuvada, Vishnu M Dhople, Madhusudhana Rao Nalam
Annotation of peptide sequence from tandem mass spectra constitutes the central step of mass spectrometry-based proteomics. Peptide mass spectra are obtained upon gas-phase fragmentation. Identification of the protein from a set of experimental peptide spectral matches is usually referred as protein inference. Occurrence and intensity of these fragment ions in the MS/MS spectra are dependent on many factors such as amino acid composition, peptide basicity, activation mode, protease, etc. Particularly, chemical derivatizations of peptides were known to alter their fragmentation...
March 27, 2017: Journal of the American Society for Mass Spectrometry
https://www.readbyqxmd.com/read/28347342/identification-and-analysis-of-genomic-islands-in-burkholderia-cenocepacia-au-1054-with-emphasis-on-pathogenicity-islands
#11
Feng-Biao Guo, Lifeng Xiong, Kai-Yue Zhang, Chuan Dong, Fa-Zhan Zhang, Patrick C Y Woo
BACKGROUND: Genomic islands (GIs) are genomic regions that reveal evidence of horizontal DNA transfer. They can code for many functions and may augment a bacterium's adaptation to its host or environment. GIs have been identified in strain J2315 of Burkholderia cenocepacia, whereas in strain AU 1054 there has been no published works on such regions according to our text mining and keyword search in Medline. RESULTS: In this study, we identified 21 GIs in AU 1054 by combining two computational tools...
March 27, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28343981/global-epidemiology-of-hcv-subtypes-and-resistance-associated-substitutions-evaluated-by-sequencing-based-subtype-analyses
#12
Tania Welzel, Neeru Bhardwaj, Charlotte Hedskog, Krishna Chodavarapu, Gregory Camus, John McNally, Diana Brainard, Michael D Miller, Hongmei Mo, Evguenia Svarovskaia, Ira Jacobson, Stefan Zeuzem, Kosh Agarwal
BACKGROUND & AIMS: Hepatitis C virus (HCV) is highly variable with 7 genotypes and 67 subtypes characterized to date. HCV genotype (GT) and subtype, and presence of resistance associated substitutions (RASs) represent the key viral determinants for the selection of direct-acting antiviral (DAA) treatment regimens. However, currently available HCV genotyping assays have limitations in differentiating between HCV subtypes and RAS prevalence in different subtypes is largely undefined. METHODS: In this study, we compared HCV GT and subtypes with INNO-LiPA 2...
March 23, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28339465/comparative-accuracy-of-the-reba-mtb-mdr-and-hain-mtbdrplus-line-probe-assays-for-the-detection-of-multidrug-resistant-tuberculosis-a-multicenter-non-inferiority-study
#13
Joshua Havumaki, Doris Hillemann, Nazir Ismail, Shaheed Vally Omar, Sophia B Georghiou, Samuel G Schumacher, Catharina Boehme, Claudia M Denkinger
INTRODUCTION: Despite recent diagnostic advances, the majority of multidrug-resistant tuberculosis (MDR-TB) cases remain undiagnosed. Line probes assays (LiPAs) hold great promise to curb the spread of MDR-TB as they can rapidly detect MDR-TB even when laboratory infrastructure is limited, yet few of these assays are currently widely available or supported by World Health Organization (WHO) policy. METHODS: The aim of this prospective, blinded, non-inferiority study was to compare the performance of YD Diagnostics REBA MTB MDR LiPA (YD) to the WHO-endorsed Hain MTBDRplus V1 LiPA (Hain V1) for the detection of rifampicin and isoniazid resistance...
2017: PloS One
https://www.readbyqxmd.com/read/28333966/associations-of-human-papillomavirus-hpv-genotypes-with-high-grade-cervical-neoplasia-cin2-in-a-cohort-of-women-living-with-hiv-in-burkina-faso-and-south-africa
#14
Helen A Kelly, Jean Ngou, Admire Chikandiwa, Bernard Sawadogo, Clare Gilham, Tanvier Omar, Olga Lompo, Sylviane Doutre, Nicolas Meda, Helen A Weiss, Sinead Delany-Moretlwe, Michel Segondy, Philippe Mayaud
OBJECTIVE: To describe associations of high-risk human papillomavirus (HR-HPV) with high-grade cervical intraepithelial neoplasia (CIN2+) in women living with HIV (WLHIV) in Burkina Faso (BF) and South Africa (SA). METHODS: Prospective cohort of WLHIV attending HIV outpatient clinics and treatment centres. Recruitment was stratified by ART status. Cervical HPV genotyping using INNO-LiPA and histological assessment of 4-quadrant cervical biopsies at enrolment and 16 months later...
2017: PloS One
https://www.readbyqxmd.com/read/28329525/oral-inverted-ductal-papilloma-not-related-to-hpv
#15
Alan Motta Do Canto, Florence Zumbaio Mistro, Sergio Kignel, Fabiana Martins, Michelle Palmieri, Paulo Henrique Braz-Silva
Oral inverted ductal papilloma (OIDP) is a rare, nonrecurrent,benign lesion of salivary glands. The etiologyis still poorly understood; the correlation with humanpapilloma virus (HPV) is controversial. Herein wepresent a 74-year-old man with a tumor in lower lip.Incisional biopsy was performed and the histologicaldiagnosis was OIDP. Inno-LiPA assay, based onpolymerase chain reaction and in situ hybridizationwas used to assess for HPV with no detection of viralDNA. Surgical excision was performed without anyrecurrences after two years of follow-up...
March 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28322747/quantitation-of-the-rates-of-hepatic-and-intestinal-cholesterol-synthesis-in-lysosomal-acid-lipase-deficient-mice-before-and-during-treatment-with-ezetimibe
#16
Jen-Chieh Chuang, Adam M Lopez, Stephen D Turley
Esterified cholesterol (EC) and triglycerides, contained within lipoproteins taken up by cells, are hydrolysed by lysosomal acid lipase (LAL) in the late endosomal/lysosomal (E/L) compartment. The resulting unesterified cholesterol (UC) is transported via Niemann-Pick type C2 and C1 into the cytosolic compartment where it enters a putative pool of metabolically active cholesterol that is utilized in accordance with cellular needs. Loss-of-function mutations in LIPA, the gene encoding LAL, result in dramatic increases in tissue concentrations of EC, a hallmark feature of Wolman disease and cholesteryl ester storage disease (CESD)...
March 18, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28321238/association-of-non-synonymous-variants-in-wipf3-and-lipa-genes-with-abdominal-aortic-aneurysm-an-autopsy-study
#17
Yuko Maeda, Noriko Sato, Makiko Naka-Mieno, Seijiro Mori, Tomio Arai, Masashi Tanaka, Masaaki Muramatsu, Motoji Sawabe
BACKGROUND: Abdominal aortic aneurysm (AAA) is a multifactorial disease with strong genetic components. Various genetic loci have been associated with clinical AAA, but few studies have investigated pathological AAA, an intermediate phenotype of the disease. METHODS: We examined 2263 consecutive autopsies of older Japanese subjects from a study on geriatric diseases in Japanese individuals (The JG-SNP study). The presence of AAA was determined with a pathological diagnosis during autopsy...
December 2016: Journal of Geriatric Cardiology: JGC
https://www.readbyqxmd.com/read/28317805/prevalence-and-genetic-determinant-of-drug-resistant-tuberculosis-among-patients-completing-intensive-phase-of-treatment-in-a-tertiary-referral-center-in-nigeria
#18
Aminu Bashir Mohammad, Garba Iliyasu, Abdulrazaq Garba Habib
BACKGROUND: Drug-resistant tuberculosis (DR-TB) continues to be a challenge in developing countries with poor resources. Despite the high prevalence of primary DR-TB, its routine screening prior to the treatment is not performed in public hospitals in Nigeria. Data regarding drug resistance and its genetic determinant among follow-up patients with TB are lacking in Nigeria. Hence, the aim of this study was to determine the prevalence and genetic determinant of drug resistance among the follow-up patients with TB in a tertiary hospital in Nigeria...
January 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28299016/circumscribed-ciliochoroidal-effusion-presenting-as-an-acute-angle-closure-attack
#19
Roslyn Kathryn Manrique Lipa, María Eugenia González Sánchez, Carlos Antonio Hijar Ordovas, Abel Rojo Aragües, Carmen Garcia Borque
PURPOSE: To report a case of choroidal effusion probably caused by angiotensin receptor II blocker. CASE REPORT: A 52-year-old man with aplastic anemia and high blood pressure who developed unilateral acute angle closure glaucoma after receiving oral cyclosporine and angiotensin II receptor blocker (losartan). Ophthalmic examination revealed visual acuity of 20/30 in the left eye, mild mydriasis, iris bombe, no anterior chamber reaction, mild conjunctival hyperemia, and the intraocular pressure of 30 mmHg...
January 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28281724/common-and-separate-origins-of-the-left-and-right-inferior-phrenic-artery-with-a-review-of-the-literature
#20
Hayato Terayama, Shuang-Qin Yi, Osamu Tanaka, Teruhisa Kanazawa, Kaori Suyama, Noriyuki Kosemura, Shuhei Tetsu, Hajime Yamazaki, Reinii Sakamoto, Satoshi Kawakami, Toshiyasu Suzuki, Kou Sakabe
In a 94-year-old male cadaver, upon which routine dissection was being conducted, a rare variation was found in the gastrophrenic trunk (GPT), the common trunk of the left gastric artery (LGA), right inferior phrenic artery (RIPA), and left inferior phrenic artery (LIPA); the GPT arises from the abdominal aorta. A hepatosplenic trunk accompanied the variation. In this variation, the RIPA first branched from the GPT and then to the LIPA and LGA. Variations in the common trunk of the LIPA and RIPA in the GPT are common, but to our knowledge, a variation (separate inferior phrenic artery in the GPT) similar to our findings has not been previously reported...
March 10, 2017: Folia Morphologica (Warsz)
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