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https://www.readbyqxmd.com/read/28731401/intraoperative-perception-and-estimates-on-extent-of-resection-during-awake-glioma-surgery-overcoming-the-learning-curve
#1
Darryl Lau, Shawn L Hervey-Jumper, Seunggu J Han, Mitchel S Berger
OBJECTIVE There is ample evidence that extent of resection (EOR) is associated with improved outcomes for glioma surgery. However, it is often difficult to accurately estimate EOR intraoperatively, and surgeon accuracy has yet to be reviewed. In this study, the authors quantitatively assessed the accuracy of intraoperative perception of EOR during awake craniotomy for tumor resection. METHODS A single-surgeon experience of performing awake craniotomies for tumor resection over a 17-year period was examined...
July 21, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28730502/establishment-of-11-linked-x-str-loci-within-1-1-mb-to-assist-with-kinship-testing
#2
James Chun-I Lee, Chun-Yen Lin, Li-Chin Tsai, Yu-Jen Yu, Keng-Hsien Liao, Adrian Linacre, Hsing-Mei Hsieh
This report identifies and characterizes 10 novel short tandem repeat (STR) loci on the human X chromosome, all of which are within a range of 1.1 Mb. These newly characterized loci were developed to aid in kinship assignment when the X chromosome is specifically required. The repeat DNA sequences were identified initially using data in GenBank and are located immediately upstream and downstream from the previously described locus DXS6807. Only those loci with seven or more observed alleles were used for further study resulting in the identification of 10 new loci...
July 20, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28728056/sequence-based-diversity-of-23-autosomal-str-loci-in-koreans-investigated-using-an-in-house-massively-parallel-sequencing-panel
#3
Eun Hye Kim, Hwan Young Lee, So Yeun Kwon, Eun Young Lee, Woo Ick Yang, Kyoung-Jin Shin
As DNA databases continue to grow and international cooperation increases, forensic STR loci have expanded to increase the discriminatory power and inter-database compatibility. Current capillary electrophoresis (CE) and/or massively parallel sequencing (MPS)-based commercial STR analysis systems reflect such changing trends of expanding STR loci. Due to the general gains of larger multiplexing and the detection of sequence variation, the application of MPS technology to STR analysis has further improved discrimination and is expected to aid in mixture interpretation by increasing the effective number of alleles...
July 9, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28727070/short-term-heat-stress-causes-altered-intracellular-signaling-in-oxidative-skeletal-muscle
#4
S Ganesan, C M Summers, S C Pearce, N K Gabler, R J Valentine, L H Baumgard, R P Rhoads, J T Selsby
Heat stress (HS) causes morbidities and mortalities, in part by inducing organ-specific injury and dysfunction. Further, HS markedly reduces farm animal productivity, and this is especially true for lean tissue accretion. The purpose of this investigation was to determine the extent to which short-term HS caused muscle dysfunction in skeletal muscle. We have previously found increased free radical injury in skeletal muscle following 24 h of HS. Thus, we hypothesized that HS would lead to apoptosis, autophagy, and decreased mitochondrial content in skeletal muscle...
June 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28724489/population-genetic-structure-of-the-cayo-santiago-colony-of-rhesus-macaques-macaca-mulatta
#5
Sreetharan Kanthaswamy, Robert F Oldt, Jillian Ng, Angelina V Ruiz-Lambides, Elizabeth Maldonado, Melween I Martínez, Carlos A Sariol
The rhesus macaque population at Cayo Santiago increases annually and is in urgent need of control. In-depth assessments of the colony's population genetic and pedigree structures provide a starting point for improving the colony's long-term management program. We evaluated the degree of genetic variation and coefficients of inbreeding and kinship of the Cayo Santiago colony by using pedigree and short tandem repeat (STR) data from 4738 rhesus macaques, which represent 7 extant social groups and a group of migrant males...
July 1, 2017: Journal of the American Association for Laboratory Animal Science: JAALAS
https://www.readbyqxmd.com/read/28723299/support-for-disease-only-genotypes-and-excess-of-homozygosity-at-the-cyth4-primate-specific-gttt-repeat-in-schizophrenia
#6
Ehteram Khademi, Elham Alehabib, Ehsan Esmaili Shandiz, Azadeh Ahmadifard, Monavvar Andarva, Javad Jamshidi, Simin Rahimi-Aliabadi, Ramin Pouriran, Farhad Ramezani Nejad, Nader Mansoori, Neda Shahmohammadibeni, Shaghyegh Taghavi, Parasto Shokraeian, Haleh Akhavan-Niaki, Coro Paisán-Ruiz, Hossein Darvish, Mina Ohadi
OBJECTIVE: The role of short tandem repeats (STRs) in the control of gene expression among species is being increasingly understood following the identification of several instances in which certain STRs occur identically, or expand differentially, in primates versus nonprimates. These STRs may regulate genes that participate in characteristics that have diverged primates from other species (e.g., brain higher order functions). The CYTH4 gene contains the longest tetranucleotide STR in its core promoter, at 7-repeats, and links to the evolution of human and nonhuman primates...
July 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28717961/determining-the-optimal-forensic-dna-analysis-procedure-following-investigation-of-sample-quality
#7
Ronny Hedell, Johannes Hedman, Petter Mostad
Crime scene traces of various types are routinely sent to forensic laboratories for analysis, generally with the aim of addressing questions about the source of the trace. The laboratory may choose to analyse the samples in different ways depending on the type and quality of the sample, the importance of the case and the cost and performance of the available analysis methods. Theoretically well-founded guidelines for the choice of analysis method are, however, lacking in most situations. In this paper, it is shown how such guidelines can be created using Bayesian decision theory...
July 17, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28717960/population-genetic-analysis-of-the-globalfiler-str-loci-in-3032-individuals-from-the-altay-han-population-of-xinjiang-in-northwest-china
#8
XueBo Li, Liangliang Li, Qingshan Wang, Jianzhong Zhang, Wendong Ge, Rufeng Bai, Xiaojun Yu, Meisen Shi
The genetic polymorphisms of 21 autosomal short tandem repeat (STR) loci included in the GlobalFiler™ PCR Amplification Kit were evaluated in 3032 unrelated individuals Altay Han of Xinjiang, northwest China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters. SE33 showed the greatest power of discrimination in Altay Han population, whereas TPOX showed the lowest. The combined discrimination power and probability of excluding paternity of the 21 autosomal STR loci were 0...
July 17, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28709047/persistence-of-immersed-blood-and-hair-dna-a-preliminary-study-based-on-casework
#9
Christophe Frippiat, Agathe Gastaldi, Séverine Van Grunderbeeck
In some cases, evidence is collected from rivers, canals, lakes or sink pipes. To determine the utility of analyzing these samples and for cases in which DNA was recovered from submerged bulletproof vest parts, we evaluated the time necessary to degrade the blood and, subsequently, DNA on bulletproof vests. In a second experiment, also based on cases, blood was diluted in water from a kitchen sink pipe and incubated at room temperature for different times. Subsequently, DNA quality was assessed. In a parallel experiment, hair roots were incubated in spring water for different time periods...
July 5, 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/28708964/compounds-from-ilex-paraguariensis-extracts-confer-antioxidant-effects-in-the-brains-of-rats-subjected-to-chronic-immobilization-stress
#10
Ana C Colpo, Maria Eduarda de Lima, Marisol Maya-López, Hemerson Rosa, Cristina Márquez-Curiel, Sonia Galván-Arzate, Abel Santamaría, Vanderlei Folmer
Immobilization induces oxidative damage to the brain. Ilex paraguariensis extracts (Mate) and chlorogenic acid (CGA), its major natural compound, exert protective effects against reactive oxygen species (ROS) formation. Here, the effects of Mate and CGA on oxidative damage induced by chronic immobilization stress (CIS) in cortex (CTX), hippocampus (HIP) and striatum (STR) were investigated. For CIS, animals were immobilized during 6 h every day for 21 consecutive days. Rats received Mate or CGA daily by intra-gastric gavage 30 min before every restraint session...
July 14, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28706611/a-novel-variant-in-the-pah-gene-causing-phenylketonuria-in-an-iranian-pedigree
#11
Elaheh Alavinejad, Seyede Zahra Sajedi, Masoumeh Razipour, Mona Entezam, Neda Mohajer, Aria Setoodeh, Saeed Talebi, Mohammad Keramatipour
BACKGROUND: Phenylalanine hydroxylase (PAH) gene is the well-known causative gene for classic Phenylketonuria (PKU) (OMIM#261600) disease, with more than 500 reported mutations. Through this study, a novel mutation in the PAH gene in an Iranian pedigree with phenylketonuria was introduced. METHODS: A consanguineous family with a 10-year old affected girl was referred for genetic analysis. Mutation screening of all exons and exon-intron boundaries was performed by Sanger sequencing, and mini haplotype analysis was carried out by genotyping of Short Tandem Repeat (STR) and Variable Number Tandem Repeat (VNTR) alleles...
July 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/28705464/diversity-of-pneumocystis-jirovecii-across-europe-a-multicentre-observational-study
#12
Alexandre Alanio, Maud Gits-Muselli, Nicolas Guigue, Marie Desnos-Ollivier, Enrique J Calderon, David Di Cave, Damien Dupont, Axel Hamprecht, Philippe M Hauser, Jannik Helweg-Larsen, Marta Kicia, Katrien Lagrou, Martina Lengerova, Olga Matos, Willem J G Melchers, Florent Morio, Gilles Nevez, Anne Totet, Lewis P White, Stéphane Bretagne
Pneumocystis jirovecii is an airborne human-specific ascomycetous fungus responsible for Pneumocystis pneumonia (PCP) in immunocompromised patients, affecting >500,000 patients per year (www.gaffi.org). The understanding of its epidemiology is limited by the lack of standardised culture. Recent genotyping data suggests a limited genetic diversity of P. jirovecii. The objective of the study was to assess the diversity of P. jirovecii across European hospitals and analyse P. jirovecii diversity in respect to clinical data obtained from the patients...
June 29, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28704439/inner-and-inter-population-structure-construction-of-chinese-jiangsu-han-population-based-on-y23-str-system
#13
Huipin Wang, Huajie Ba, Chun Yang, Jianqiu Zhang, Yunchun Tai
In this study, we analyzed the genetic polymorphisms of 23 Y-STR loci from PowerPlex® Y23 system in 916 unrelated healthy male individuals from Chinese Jiangsu Han, and observed 912 different haplotypes including 908 unique haplotypes and 4 duplicate haplotypes. The haplotype diversity reached 0.99999 and the discrimination capacity and match probability were 0.9956 and 0.0011, respectively. The gene diversity values ranged from 0.3942 at DYS438 to 0.9607 at DYS385a/b. Population differentiation within 10 Jiangsu Han subpopulations were evaluated by RST values and visualized in Neighbor-Joining trees and Multi-Dimensional Scaling plots as well as population relationships between the Jiangsu Han population and other 18 Eastern Asian populations...
2017: PloS One
https://www.readbyqxmd.com/read/28702932/phylogenetic-analysis-of-rabbit-haemorrhagic-disease-virus-rhdv-strains-isolated-in-poland
#14
Andrzej Fitzner, Wieslaw Niedbalski
The aim of this study was to characterise the nucleotide and amino acid sequence of complete genomes (7.5 kb) from RHDV strains isolated in Poland and estimate the genetic variability in different elements of the viral RNA. In addition, the sequence of Polish RHDV isolates isolated from 1988-2015 was compared with the sequences of other European RHDV, including the RHDVa and RHDV2/RHDVb subtypes. The complete sequence was developed by the compilation of partial nucleotide sequences. This sequence consisted of approximately 7428 nucleotides...
July 12, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28700963/application-of-dip-strs-to-sexual-physical-assault-investigations-eight-case-reports
#15
Fabio Oldoni, Vincent Castella, Diana Hall
DIP-STRs are compound markers formed by a deletion/insertion polymorphism linked to a microsatellite. They enable the deconvolution of unbalanced DNA mixtures from two individuals, up to 1000 fold excess of one contributor. In practice, this novel tool allows to test for the presence of a DNA of interest in traces appearing not useful because of the masking effect of the major DNA contributor. Thus far two sets of DIP-STRs have been published: the first set was described as proof-of-principle, while the second set was specifically developed for forensic applications...
July 1, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28697408/a-finding-in-genetic-polymorphism-analysis-study-a-case-of-non-mosaic-47-xxx-without-manifestations
#16
Xingyi Yang, Zilan Ye, Xiaofang Zhang, Huijun Wang, Chao Liu
Trisomy X (47, XXX) is a sex chromosome aneuploidy condition in which females have an extra X chromosome, compared to the 46, XX karyotype in typical females. There is considerable variation in the phenotype, with some individuals very mildly affected and others with more significant physical and psychological features. However, the trisomy X in this case, without any of these phenotype, is rarely reported. Here, we report a case found during DNA sample collection in a study of genetic polymorphism analysis of loci in Chinese ethnic group, of a female with neither laboratory or clinical signs of Triple X syndrome...
June 30, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28694208/single-nucleotide-polymorphisms-minisequencing-in-hypervariable-regions-for-screening-of-thais
#17
Punlop Thongngam, Worraanong Leewattanapasuk, Tanin Bhoopat, Padchanee Sangthong
Mitochondrial DNA (mtDNA) analysis has displayed an important role and been considered as a powerful tool in various fields of forensic science applications. Nowadays, single nucleotide polymorphisms (SNPs) on mtDNA have become additional DNA markers when conventional STR typing practically fails. mtDNA sequencing of polymerase chain reaction (PCR) products from the hypervariable region I (HVRI) and II (HVRII) is the standard method of mtDNA analysis. However, mtDNA sequencing is rather expensive, time consuming and technically complex...
July 7, 2017: Gene
https://www.readbyqxmd.com/read/28691776/a-simple-method-of-vntr-d1s80-locus-allelic-ladder-construction-for-capillary-electrophoresis-based-genotyping
#18
Ju Yeon Jung, Su-Ji Kim, Yu-Li Oh, Si-Keun Lim, Yang Han Lee, Jung Ho Hwang
VNTR D1S80 locus genotyping has been largely replaced in forensics by STR. As the statute of limitations on murder cases was abolished in the Republic of Korea in July 2015, the demand for re-analysis of DNA from unresolved murder cases has increased. The National Forensic Service includes several recorded D1S80 genotypes as crucial clues. Here, we re-established the D1S80 analysis system using capillary electrophoresis and confirmed the reproducibility of the system by comparison with the genotypes of eight DNA samples that had been analyzed using PAGE in 2006...
July 10, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28689368/maximize-surgical-resection-beyond-contrast-enhancing-boundaries-in-newly-diagnosed-glioblastoma-multiforme-is-it-useful-and-safe-a-single-institution-retrospective-experience
#19
Federico Pessina, Pierina Navarria, Luca Cozzi, Anna Maria Ascolese, Matteo Simonelli, Armando Santoro, Elena Clerici, Marco Rossi, Marta Scorsetti, Lorenzo Bello
The extent of surgical resection (EOR) has been recorded as conditioning outcome in glioblastoma multiforme (GBM) patients but no significant improvements were recorded in survival. The study aimed to evaluate the impact of EOR on survival, investigating the role of fluid-attenuated inversion recovery (FLAIR) abnormalities removal. 282 newly diagnosed GBM patients were treated with surgery followed by concurrent and adjuvant chemo-radiotherapy. The EOR was defined as: SUPr, in case of resection amounting to 100% of enhanced and FLAIR areas; gross total (GTR) in case of resection between 90 and 100% of enhanced areas with variable amount of FLAIR abnormalities; sub-total (STR), between 10 and 89%; biopsy (B) <10%...
July 8, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28687443/ganglioglioma-of-brain-stem-and-cervicomedullary-junction-a-50years-review-of-literature
#20
REVIEW
M Burhan Janjua, Iryna Ivasyk, David J Pisapia, Mark M Souweidane
Gangliogliomas are rare low-grade brain tumors composed of both neoplastic glial and neuronal cell elements. The treatment modalities are relatively different in this location and hence factors affecting outcome are poorly understood. We identified 142 brain stem GG patients across 46 studies. The average age was 11.4years with significant difference b/w males and females under the age of 20 (p=0.001). 100% of tumors in the CMJ while, 72% of type I and 86% of type II tumors demonstrated contrast enhancement...
July 4, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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