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https://www.readbyqxmd.com/read/29166502/outcomes-of-long-term-treatments-of-type-i-hereditary-angioedema-in-a-turkish-family
#1
Gulsen Akoglu, Belgin Kesim, Gokhan Yildiz, Ahmet Metin
BACKGROUND: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE: We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS: The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. RESULTS: Five members had experienced recurrent swellings on the face and extremities triggered by trauma...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29166238/shiga-toxin-producing-e-coli-infections-associated-with-flour
#2
Samuel J Crowe, Lyndsay Bottichio, Lauren N Shade, Brooke M Whitney, Nereida Corral, Beth Melius, Katherine D Arends, Danielle Donovan, Jolianne Stone, Krisandra Allen, Jessica Rosner, Jennifer Beal, Laura Whitlock, Anna Blackstock, June Wetherington, Lisa A Newberry, Morgan N Schroeder, Darlene Wagner, Eija Trees, Stelios Viazis, Matthew E Wise, Karen P Neil
Background In 2016, a multijurisdictional team investigated an outbreak of Shiga toxin-producing Escherichia coli (STEC) serogroup O121 and O26 infections linked to contaminated flour from a large domestic producer. Methods A case was defined as infection with an outbreak strain in which illness onset was between December 21, 2015, and September 5, 2016. To identify exposures associated with the outbreak, outbreak cases were compared with non-STEC enteric illness cases, matched according to age group, sex, and state of residence...
November 23, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29165669/clinvar-improving-access-to-variant-interpretations-and-supporting-evidence
#3
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Karen Karapetyan, Kenneth Katz, Chunlei Liu, Zenith Maddipatla, Adriana Malheiro, Kurt McDaniel, Michael Ovetsky, George Riley, George Zhou, J Bradley Holmes, Brandi L Kattman, Donna R Maglott
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical significance of variants are submitted by clinical testing laboratories, research laboratories, expert panels and other groups. ClinVar aggregates data by variant-disease pairs, and by variant (or set of variants). Data aggregated by variant are accessible on the website, in an improved set of variant call format files and as a new comprehensive XML report...
November 20, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29165334/development-and-validation-of-an-on-line-water-toxicity-sensor-with-immobilized-luminescent-bacteria-for-on-line-surface-water-monitoring
#4
Marjolijn Woutersen, Bram van der Gaag, Afua Abrafi Boakye, Jan Mink, Robert S Marks, Arco J Wagenvoort, Henk A M Ketelaars, Bram Brouwer, Minne B Heringa
Surface water used for drinking water production is frequently monitored in The Netherlands using whole organism biomonitors, with for example Daphnia magna or Dreissena mussels, which respond to changes in the water quality. However, not all human-relevant toxic compounds can be detected by these biomonitors. Therefore, a new on-line biosensor has been developed, containing immobilized genetically modified bacteria, which respond to genotoxicity in the water by emitting luminescence. The performance of this sensor was tested under laboratory conditions, as well as under field conditions at a monitoring station along the river Meuse in The Netherlands...
November 22, 2017: Sensors
https://www.readbyqxmd.com/read/29163992/cd56-negative-aggressive-nk-cell-leukemia-relapsing-as-multiple-cranial-nerve-palsies-case-report-and-literature-review
#5
M Guerreiro, F Príncipe, M J Teles, S Fonseca, A H Santos, E Fonseca, P Gomes, C Marques, M Lima
Background: Aggressive natural killer cell leukemia (ANKL) is extremely rare and habitually manifests as a systemic disease with multiorgan failure that rapidly evolves to death. The neoplastic natural killer (NK) cells usually harbor the Epstein-Barr virus (EBV) with a latent viral infection pattern type II; they often have a cytoplasmic CD3ε(+) and surface CD3(-), CD2(+), and CD56(+) immunophenotype, and they show complex genetic abnormalities affecting multiple tumor suppressor genes and oncogenes...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29163459/crispr-cas9-system-as-a-valuable-genome-editing-tool-for-wine-yeasts-with-application-to-decrease-urea-production
#6
Ileana Vigentini, Marinella Gebbia, Alessandra Belotti, Roberto Foschino, Frederick P Roth
An extensive repertoire of molecular tools is available for genetic analysis in laboratory strains of S. cerevisiae. Although this has widely contributed to the interpretation of gene functionality within haploid laboratory isolates, the genetics of metabolism in commercially-relevant polyploid yeast strains is still poorly understood. Genetic engineering in industrial yeasts is undergoing major changes due to Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and CRISPR-associated protein (Cas) engineering approaches...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29163379/medfly-gut-microbiota-and-enhancement-of-the-sterile-insect-technique-similarities-and-differences-of-klebsiella-oxytoca-and-enterobacter-sp-aa26-probiotics-during-the-larval-and-adult-stages-of-the-vienna-8-d53-genetic-sexing-strain
#7
Georgios A Kyritsis, Antonios A Augustinos, Carlos Cáceres, Kostas Bourtzis
The Mediterranean fruit fly, Ceratitis capitata, is a major agricultural pest worldwide. The development of genetic sexing strains (GSSs) for this species that allows male-only sterile insects releases has boosted the effectiveness of the environmental friendly pest control method known as the sterile insect technique. The last generation of these strains, the VIENNA 7 and VIENNA 8, are currently used in all mass rearing facilities worldwide and are considered as models for such pest control applications. The sterile insect technique depends on the rearing of sufficient numbers of adequate "biological quality" laboratory flies to be released in the field...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29163007/from-mice-to-mole-rats-species-specific-modulation-of-adult-hippocampal-neurogenesis
#8
Maria K Oosthuizen
Rodent populations living in their natural environments have very diverse ecological and life history profiles that may differ substantially from that of conventional laboratory rodents. Free-living rodents show species-specific neurogenesis that are dependent on their unique biology and ecology. This perspective aims to illustrate the benefit of studying wild rodent species in conjunction with laboratory rodents. African mole-rats are discussed in terms of habitat complexity, social structures, and longevity...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29162611/hdl-subspecies-defined-by-presence-of-apolipoprotein-c-iii-and-incident-coronary-heart-disease-in-four-cohorts
#9
Majken K Jensen, Sarah A Aroner, Kenneth J Mukamal, Jeremy D Furtado, Wendy S Post, Michael Y Tsai, Anne Tjønneland, Joseph F Polak, Eric B Rimm, Kim Overvad, Robyn L McClelland, Frank M Sacks
Background -The causal role of high density lipoprotein (HDL) cholesterol in cardioprotection has been questioned by genetic and randomized studies. Novel measures that relate to HDL function may contribute new information to prediction of cardiovascular risk. Apolipoprotein C-III (apoC-III) is a key regulator of lipoprotein metabolism. We investigated whether subspecies of HDL defined by apoC-III are associated with coronary heart disease (CHD). Methods -We used immuno-affinity chromatography to measure the apoA-I concentrations of HDL that contains and lacks apoC-III in two prospective studies of adults free of CHD...
November 21, 2017: Circulation
https://www.readbyqxmd.com/read/29162533/derivation-of-an-oral-reference-dose-rfd-for-di-2-ethylhexyl-cyclohexan-1-4-dicarboxylate-dehch-an-alternative-to-phthalate-plasticizers
#10
Brian J Hughes, Kevin Cox, Virunya Bhat
Di 2-ethylhexyl cyclohexane-1,4-dicarboxylate (DEHCH, CAS 84731-70-4) is an ester of polycarboxylic acid assessed in a wide variety of ecotoxicological and mammalian toxicity assays as a substitute for phthalate ester-type plasticizers. Laboratory animal data indicate that DEHCH has a low acute oral and dermal toxicity, is non-irritating to the skin and eyes, and is a non-sensitizer. In an OECD 422 combined repeat dose toxicity study with a reproductive/developmental toxicity screening test in Sprague-Dawley rats, minimal effects were observed on the liver, spleen, and thyroid...
November 18, 2017: Regulatory Toxicology and Pharmacology: RTP
https://www.readbyqxmd.com/read/29162393/pcr-based-discrimination-of-emerging-streptococcus-pneumoniae-serotypes-22f-and-33f
#11
Hayley D Gillis, Walter H B Demczuk, Averil Griffith, Irene Martin, Michelle Warhuus, Amanda L S Lang, May ElSherif, Shelly A McNeil, Jason J LeBlanc
Serotyping of Streptococcus pneumoniae is important to monitor disease epidemiology and assess the impact of pneumococcal vaccines. Traditionally, the Quellung reaction used serotype-specific antibodies to classify S. pneumoniae based on differences in capsular antigens. More recently, PCR-based serotype deduction relying on serotype-specific capsule biosynthesis genes has been broadly applied for pneumococcal surveillance. However, PCR-based serotyping lacks discrimination for certain S. pneumoniae serotypes, including the differentiation of serotype 22F from 22A, and serotype 33F from 33A and 37...
November 18, 2017: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/29162042/novel-intragenic-deletions-within-the-ube3a-gene-in-two-unrelated-patients-with-angelman-syndrome-case-report-and-review-of-the-literature
#12
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
BACKGROUND: Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region. Functional loss of UBE3A is due to 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy and genomic imprinting defects. CASE PRESENTATION: We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis...
November 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29161691/failure-to-thrive-in-the-context-of-carney-complex
#13
Amit Tirosh, Adi Auerbach, Belen Bonella, Phaedon D Zavras, Elena Belyavskaya, Charalampos Lyssikatos, Karen Meir, Ram Weiss, Hagit Daum, Maya B Lodish, David Gillis, Constantine A Stratakis
BACKGROUND/AIMS: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT). METHODS: A retrospective case series of pediatric patients with CNC presenting with FTT. RESULTS: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC...
November 21, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29158665/pharmacokinetics-and-tolerability-of-mb12066-a-beta-lapachone-derivative-targeting-nad-p-h-quinone-oxidoreductase-1-two-independent-double-blind-placebo-controlled-combined-single-and-multiple-ascending-dose-first-in-human-clinical-trials
#14
Seokuee Kim, SeungHwan Lee, Joo-Youn Cho, Seo Hyun Yoon, In-Jin Jang, Kyung-Sang Yu
MB12066 is a molecule derived from β-lapachone that shown effects on obesity in previous studies. The present studies were conducted to evaluate the tolerability and pharmacokinetics (PK) of MB12066 after the oral administration of single and multiple doses to healthy volunteers. The study comprised 2 independent, randomized, double-blind, placebo-controlled, combined single and multiple ascending dose first-in-human clinical trials to evaluate the safety, tolerability and PK of MB12066 in healthy Korean volunteers...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/29158599/application-of-genome-editing-technologies-in-rats-for-human-disease-models
#15
REVIEW
Kazuto Yoshimi, Tomoji Mashimo
Laboratory rats and mice are representative experimental animals for models of human disease. The emergence of genome editing technologies has enabled us to produce a variety of genetically modified animals, including rats, as a means of elucidating the in vivo functions of the gene of interest and characterizing the molecular mechanisms of human disease. Several advanced techniques for knock-in methodologies in rats are currently in development, which permit researchers to introduce precise nucleotide modifications at target sites in the rat's genome...
November 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29157988/de-novo-thrombotic-microangiopathy-after-kidney-transplantation
#16
REVIEW
Neetika Garg, Helmut G Rennke, Martha Pavlakis, Kambiz Zandi-Nejad
Thrombotic microangiopathy (TMA) is a serious complication of transplantation that adversely affects kidney transplant recipient and allograft survival. Post-transplant TMA is usually classified into two categories: 1) recurrent TMA and 2) de novo TMA. Atypical hemolytic uremic syndrome (aHUS) resulting from dysregulation and over-activation of the alternate complement pathway is a rare disease but the most common diagnosis associated with recurrence in the allografts. De novo TMA, on the other hand, represents an overwhelming majority of the cases of post-transplant TMA and is a substantially more heterogeneous entity than recurrent aHUS...
November 4, 2017: Transplantation Reviews
https://www.readbyqxmd.com/read/29156423/under-pressure-evolutionary-engineering-of-yeast-strains-for-improved-performance-in-fuels-and-chemicals-production
#17
REVIEW
Robert Mans, Jean-Marc G Daran, Jack T Pronk
Evolutionary engineering, which uses laboratory evolution to select for industrially relevant traits, is a popular strategy in the development of high-performing yeast strains for industrial production of fuels and chemicals. By integrating whole-genome sequencing, bioinformatics, classical genetics and genome-editing techniques, evolutionary engineering has also become a powerful approach for identification and reverse engineering of molecular mechanisms that underlie industrially relevant traits. New techniques enable acceleration of in vivo mutation rates, both across yeast genomes and at specific loci...
November 17, 2017: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/29155671/capacity-development-through-the-us-president-s-malaria-initiative-supported-antimalarial-resistance-monitoring-in-africa-network
#18
Eric S Halsey, Meera Venkatesan, Mateusz M Plucinski, Eldin Talundzic, Naomi W Lucchi, Zhiyong Zhou, Celine I Mandara, Hawela Moonga, Busiku Hamainza, Abdoul Habib Beavogui, Simon Kariuki, Aaron M Samuels, Laura C Steinhardt, Don P Mathanga, Julie Gutman, Yves Eric Denon, Aline Uwimana, Ashenafi Assefa, Jimee Hwang, Ya Ping Shi, Pedro Rafael Dimbu, Ousmane Koita, Deus S Ishengoma, Daouda Ndiaye, Venkatachalam Udhayakumar
Antimalarial drug resistance is an evolving global health security threat to malaria control. Early detection of Plasmodium falciparum resistance through therapeutic efficacy studies and associated genetic analyses may facilitate timely implementation of intervention strategies. The US President's Malaria Initiative-supported Antimalarial Resistance Monitoring in Africa Network has assisted numerous laboratories in partner countries in acquiring the knowledge and capability to independently monitor for molecular markers of antimalarial drug resistance...
December 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29155423/experimental-models-of-pancreatic-cancer-desmoplasia
#19
Sujit Suklabaidya, Pujarini Dash, Biswajit Das, Voddu Suresh, Prakash K Sasmal, Shantibhusan Senapati
Desmoplasia is a fibro-inflammatory process and a well-established feature of pancreatic cancer. A key contributor to pancreatic cancer desmoplasia is the pancreatic stellate cell. Various in vitro and in vivo methods have emerged for the isolation, characterization, and use of pancreatic stellate cells in models of cancer-associated fibrosis. In addition to cell culture models, genetically engineered animal models have been established that spontaneously develop pancreatic cancer with desmoplasia. These animal models are currently being used for the study of pancreatic cancer pathogenesis and for evaluating therapeutics against pancreatic cancer...
November 20, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29154853/standards-and-guidelines-for-validating-next-generation-sequencing-bioinformatics-pipelines-a-joint-recommendation-of-the-association-for-molecular-pathology-and-the-college-of-american-pathologists
#20
REVIEW
Somak Roy, Christopher Coldren, Arivarasan Karunamurthy, Nefize S Kip, Eric W Klee, Stephen E Lincoln, Annette Leon, Mrudula Pullambhatla, Robyn L Temple-Smolkin, Karl V Voelkerding, Chen Wang, Alexis B Carter
Bioinformatics pipelines are an integral component of next-generation sequencing (NGS). Processing raw sequence data to detect genomic alterations has significant impact on disease management and patient care. Because of the lack of published guidance, there is currently a high degree of variability in how members of the global molecular genetics and pathology community establish and validate bioinformatics pipelines. Improperly developed, validated, and/or monitored pipelines may generate inaccurate results that may have negative consequences for patient care...
November 17, 2017: Journal of Molecular Diagnostics: JMD
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