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https://www.readbyqxmd.com/read/28805618/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-21q11-2-q21-1-and-a-literature-review
#1
Chih-Ping Chen, Ming Chen, Chia-Hsun Wu, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Shun-Ping Chang, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of 21q11.2-q21.1. CASE REPORT: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar [18]/46,XX [4]. The parental karyotypes were normal...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805617/molecular-cytogenetic-characterization-of-a-duplication-of-15q24-2-q26-2-associated-with-anencephaly-and-neural-tube-defect
#2
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chen-Chi Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect (NTD). CASE REPORT: A 35-year-old pregnant woman was found to have a fetus with anencephaly by prenatal ultrasound at 12 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with anencephaly. Cytogenetic analysis of the cultured placental tissues revealed a karyotype of 46,XX,dup(15) (q24...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805298/female-urethral-injuries-associated-with-pelvic-fracture-a-systematic-review-of-the-literature
#3
REVIEW
Devin N Patel, Cynthia S Fok, George D Webster, Jennifer T Anger
OBJECTIVES: To systematically review the literature of female urethral injuries associated with pelvic fracture and determine optimal management of this rare injury. MATERIALS AND METHODS: Using Meta-analysis Of Observational Studies in Epidemiology criteria, we searched Cochrane, Pubmed and OVID databases for all articles available before June 30, 2016 using the terms "female pelvic fracture urethroplasty," "female urethral distraction," "female pelvic fracture urethral injury," "female pelvic fracture urethra girls...
August 14, 2017: BJU International
https://www.readbyqxmd.com/read/28805187/changes-in-patient-characteristics-following-cardiac-transplantation-the-montreal-heart-institute-experience
#4
Nicola Vistarini, Anthony Nguyen, Michel White, Normand Racine, Louis P Perrault, Anique Ducharme, Denis Bouchard, Philippe Demers, Michel Pellerin, Yoan Lamarche, Ismaïl El-Hamamsy, Geneviève Giraldeau, Guy Pelletier, Michel Carrier
BACKGROUND: Heart transplantation is no longer considered an experimental operation, but rather a standard treatment; nevertheless the context has changed substantially in recent years owing to donor shortage. The aim of this study was to review the heart transplant experience focusing on very long-term survival (≥ 20 years) and to compare the initial results with the current era. METHODS: From April 1983 through April 1995, 156 consecutive patients underwent heart transplantation...
August 3, 2017: Canadian Journal of Surgery. Journal Canadien de Chirurgie
https://www.readbyqxmd.com/read/28804859/fertility-life-table-of-tetranychus-palmarum-flechtmann-noronha-acari-tetranychidae-in-oil-palm
#5
A C S Noronha, C T Ferreira, E J M Tavares, D B Lima
Some species of spider mites belonging to the Tetranychidae family are known to associate with oil palm (Elaeis guineensis Jacq. - Arecaceae). The occurrence of Tetranychus palmarum Flechtmann & Noronha (Acari, Tetranychidae) was verified on oil palm seedlings under greenhouse conditions in the State of Pará in Northern Brazil. Plants with colonies of T. palmarum presented yellowish spots on leaflets and leaves with chlorosis. The objective of this study was to access the biology and fertility life table of T...
August 13, 2017: Neotropical Entomology
https://www.readbyqxmd.com/read/28804813/a-systematic-review-of-the-clinical-applications-and-complications-of-bone-marrow-aspirate-concentrate-in-management-of-bone-defects-and-nonunions
#6
REVIEW
Mohamed A Imam, James Holton, Lukas Ernstbrunner, Wojciech Pepke, Florian Grubhofer, Ali Narvani, Martyn Snow
PURPOSE: Fracture healing encompasses a succession of dynamic multifactorial metabolic events, which ultimately re-establishes the integrity of the biomechanical properties of the bone. Up to 10% of the fractures occurring annually will need additional surgical procedures because of impaired healing. The aim of this article is to review the current literature regarding the use of bone marrow aspirate concentrate (BMAC) and its effectiveness in the management of bone defects. METHODS: We have included all published clinical literature investigating the development, techniques and applications of BMAC...
August 13, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28804623/recent-advances-in-the-molecular-mechanisms-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#7
Keiko Watanabe, Yusuke Kobayashi, Kouji Banno, Yusuke Matoba, Haruko Kunitomi, Kanako Nakamura, Masataka Adachi, Kiyoko Umene, Iori Kisu, Eiichiro Tominaga, Daisuke Aoki
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a disease caused by congenital absence of the uterus and two-thirds of the upper vagina. The pathogenic mechanism of MRKHS may involve gene abnormalities, and there are various case reports associating MRKHS with the Wnt family member 4 (Wnt4) mutation. Analysis of genes mapped to regions in which deletion and duplication are frequently detected in patients with MRKHS has shown involvement of LIM homeobox 1 (LHX1), HNF1 homeobox B (HNF1B) and T-box 6 (TBX6)...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28803999/growth-arrest-and-morphological-changes-triggered-by-emodin-on-trypanosoma-cruzi-epimastigotes-cultivated-in-axenic-medium
#8
Ana R De Lima, Karem Noris-Suárez, Antonio Bretaña, Victor T Contreras, Maria C Navarro, Luis Pérez-Ybarra, José Bubis
Emodin is an anthraquinone obtained from Rheum palmatum rootstocks. Here we tested the cytotoxic effects of emodin on Trypanosoma cruzi epimastigotes, as well as the morphological changes that were induced by this compound in the parasite. Emodin was permeable and blocked in vitro cell division of T. cruzi epimastigotes in axenic medium, causing growth arrest in a dose-dependent but reversible manner. Emodin-exposed epimastigotes underwent duplication of organelles, such as the nucleus, kinetoplast and flagellum, but were incapable of completing cytokinesis...
August 10, 2017: Biochimie
https://www.readbyqxmd.com/read/28803962/post-analytical-stability-of-23-common-chemistry-and-immunochemistry-analytes-in-incurred-samples
#9
Betina Klint Nielsen, Tina Frederiksen, Lennart Friis-Hansen, Pia Bükmann Larsen
BACKGROUND: Storage of blood samples after centrifugation, decapping and initial sampling allows ordering of additional blood tests. The pre-analytic stability of biochemistry and immunochemistry analytes has been studied in detail, but little is known about the post-analytical stability in incurred samples. METHODS: We examined the stability of 23 routine analytes on the Dimension Vista® (Siemens Healthineers, Denmark): 42-60 routine samples in lithium-heparin gel tubes (Vacutainer, BD, USA) were centrifuged at 3000×g for 10min...
August 10, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28803594/does-adherence-to-the-mediterranean-dietary-pattern-reduce-asthma-symptoms-in-children-a-systematic-review-of-observational-studies
#10
Maria M Papamichael, Catherine Itsiopoulos, Nugroho H Susanto, Bircan Erbas
OBJECTIVE: The purpose of the present systematic review was to synthesize evidence from the literature to assess efficacy of the Mediterranean dietary pattern in childhood asthma. Design/Setting A systematic search of six databases, three clinical trial registries and hand-search of peer-reviewed articles was conducted up to 29 October 2016. Inclusion criteria included exposure to a Mediterranean dietary pattern, measurement of asthma symptoms and study population of children aged <18 years...
August 14, 2017: Public Health Nutrition
https://www.readbyqxmd.com/read/28803446/urinary-tract-infections-due-to-esbl-producing-enterobacteriaceae-in-renal-transplant-recipients-a-systematic-review-and-meta-analysis
#11
Michail Alevizakos, Dimitrios Nasioudis, Eleftherios Mylonakis
BACKGROUND: Urinary tract infections (UTIs) are the most common infectious complications among renal transplant recipients (RTR). UTIs caused by extended-spectrum beta-lactamase (ESBL)-producing Enterobacteriaceae (ESBL-PE) have been associated with inferior clinical outcomes and increased financial burden. METHODS: We performed a systematic review and meta-analysis by searching through the PubMed and EMBASE databases (to May 20, 2016) and identifying studies that reported data on the number of RTR who developed an ESBL-PE UTI...
August 13, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28802919/nonmotor-signs-in-genetic-forms-of-parkinson-s-disease
#12
Meike Kasten, Connie Marras, Christine Klein
Although only a minority (i.e., ~5%) of Parkinson's disease (PD) cases is due to well-defined genetic causes, important clues about the common, "idiopathic" PD (iPD) can be garnered from monogenic model diseases. Nonmotor signs (NMS) are also present in monogenic PD and reviewed in this chapter for the confirmed PD genes SNCA, LRRK2, VPS35, Parkin, PINK1, DJ-1, and the risk factor gene GBA. Within the context of the MDSGene database (www.mdsgene.org), we performed a systematic literature search and extracted information on cognitive decline, depression, psychotic signs and symptoms, autonomic signs and symptoms, anxiety, sleep disorder, and olfactory impairment...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802185/diagnostic-yield-and-clinical-impact-of-routine-cell-culture-for-respiratory-viruses-among-children-with-a-negative-multiplex-rt-pcr-result
#13
M AlGhounaim, Y Xiao, C Caya, J Papenburg
BACKGROUND: Polymerase chain reaction (PCR) is the reference standard for respiratory virus testing. However, cell culture may still have added value in identifying viruses not detected by PCR. OBJECTIVES: We aimed to estimate the yield and clinical impact of routine respiratory virus culture among children with a negative PCR result. STUDY DESIGN: A retrospective cohort study was performed from Jan. 2013 to Sept. 2015. Respiratory samples from hospitalized or immunocompromised patients <18years old were routinely inoculated on traditional tube cell culture monolayers if they tested negative by a PCR assay for 12 respiratory viruses...
July 29, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28802080/segmental-allotetraploidy-generates-extensive-homeologous-expression-rewiring-and-phenotypic-diversity-at-the-population-level-in-rice
#14
Yue Sun, Ying Wu, Chunwu Yang, Shuai Sun, Xiuyun Lin, Lixia Liu, Chunming Xu, Jonathan F Wendel, Lei Gong, Bao Liu
Allopolyploidization, i.e., concomitant merging and doubling of two or more divergent genomes in a common nucleus/cytoplasm, is known to instantly alter genome-wide transcriptome dynamics, a phenomenon referred to as "transcriptomic shock". However, the immediate effects of transcriptomic alteration in generating phenotypic diversity at the population level remain under-investigated. Here, we employed the MassARRAY-based Sequenom platform to assess and compare orthologous, allelic, and homeologous gene expression status in two tissues (leaf and root) of a set of randomly chosen individuals from populations of parental rice subspecies (indica and japonica), in vitro "hybrids" (parental mixes), reciprocal F1 hybrids and reciprocal tetraploids at the 5(th) -selfed generation (S5)...
August 12, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28802053/gene-panel-testing-of-breast-and-ovarian-cancer-patients-identifies-a-recurrent-rad51c-duplication
#15
Liisa M Pelttari, Hermela Shimelis, Heidi Toiminen, Anders Kvist, Therese Törngren, Åke Borg, Carl Blomqvist, Ralf Bützow, Fergus Couch, Kristiina Aittomäki, Heli Nevanlinna
Gene-panel sequencing allows comprehensive analysis of multiple genes simultaneously and is now routinely used in clinical mutation testing of high-risk breast and ovarian cancer patients. However, only BRCA1 and BRCA2 are often analyzed also for large genomic changes. Here, we have analyzed 10 clinically relevant susceptibility genes in 95 breast or ovarian cancer patients with gene-panel sequencing including also CNV analysis for genomic changes. We identified 12 different pathogenic BRCA1, BRCA2, TP53, PTEN, CHEK2, or RAD51C mutations in 18/95 patients (19%)...
August 12, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28802018/characterization-of-two-catalase-peroxidase-encoding-genes-in-fusarium-verticillioides-reveals-differential-responses-to-in-vitro-versus-in-planta-oxidative-challenges
#16
Shan Gao, Scott E Gold, Anthony E Glenn
Catalase/peroxidases (KatGs) are a superfamily of reactive oxygen species (ROS)-degrading enzymes believed to be horizontally acquired by ancient Ascomycota from bacteria. Subsequent gene duplication resulted in two KatG paralogs in ascomycetes: the widely distributed intracellular KatG1 group, and the phytopathogen-dominated extracellular KatG2 group. To functionally characterize FvCP01 (KatG1) and FvCP02 (KatG2) in the maize pathogen Fusarium verticillioides, single and double gene deletion mutants were examined in response to hydrogen peroxide (H2 O2 )...
August 12, 2017: Molecular Plant Pathology
https://www.readbyqxmd.com/read/28801933/maldi-imaging-guided-microproteomic-analyses-of-heterogeneous-breast-tumors-a-pilot-study
#17
Deborah Alberts, Charles Pottier, Nicolas Smargiasso, Dominique Baiwir, Gabriel Mazzucchelli, Philippe Delvenne, Mark Kriegsmann, Daniel Kazdal, Arne Warth, Edwin De Pauw, Rémi Longuespée
PURPOSE: Matrix-assisted laser desorption/ionization (MALDI) imaging is an ideal tool to study intratumor heterogeneity (ITH) and its implication in prognostic stratification of patients. However there are some drawbacks concerning protein identification. On the other hand, laser microdissection (LMD)-based microproteomics allows retrieving thousands of protein identifications from small tissue pieces. As a proof of concept, we combined these two complementary approaches to analyze heterogeneous regions in breast tumors...
August 11, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/28801822/simultaneous-quantification-of-free-cholesterol-cholesteryl-esters-and-triglycerides-without-ester-hydrolysis-by-uhplc-separation-and-in-source-collision-induced-dissociation-coupled-ms-ms
#18
Michael S Gardner, Lisa G McWilliams, Jeffrey I Jones, Zsuzsanna Kuklenyik, James L Pirkle, John R Barr
We demonstrate the application of in-source nitrogen collision-induced dissociation (CID) that eliminates the need for ester hydrolysis before simultaneous analysis of esterified cholesterol (EC) and triglycerides (TG) along with free cholesterol (FC) from human serum, using normal phase liquid chromatography (LC) coupled to atmospheric pressure chemical ionization (APCI) tandem mass spectrometry (MS/MS). The analysis requires only 50 μL of 1:100 dilute serum with a high-throughput, precipitation/evaporation/extraction protocol in one pot...
August 11, 2017: Journal of the American Society for Mass Spectrometry
https://www.readbyqxmd.com/read/28801642/extreme-anoxia-tolerance-in-crucian-carp-and-goldfish-through-neofunctionalization-of-duplicated-genes-creating-a-new-ethanol-producing-pyruvate-decarboxylase-pathway
#19
Cathrine E Fagernes, Kåre-Olav Stensløkken, Åsmund K Røhr, Michael Berenbrink, Stian Ellefsen, Göran E Nilsson
Without oxygen, most vertebrates die within minutes as they cannot meet cellular energy demands with anaerobic metabolism. However, fish of the genus Carassius (crucian carp and goldfish) have evolved a specialized metabolic system that allows them to survive prolonged periods without oxygen by producing ethanol as their metabolic end-product. Here we show that this has been made possible by the evolution of a pyruvate decarboxylase, analogous to that in brewer's yeast and the first described in vertebrates, in addition to a specialized alcohol dehydrogenase...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28801222/inferring-incomplete-lineage-sorting-duplications-transfers-and-losses-with-reconciliations
#20
Yao-Ban Chan, Vincent Ranwez, Céline Scornavacca
Gene trees and species trees can be discordant due to several processes. Standard models of reconciliations consider macro-evolutionary events at the gene level: duplications, losses and transfers of genes. However, another common source of gene tree-species tree discordance is incomplete lineage sorting (ILS), whereby gene divergences corresponding to speciations occur "out of order". However, ILS is seldom considered in reconciliation models. In this paper, we devise a unified formal IDTL reconciliation model which includes all the abovementioned processes...
August 8, 2017: Journal of Theoretical Biology
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