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https://www.readbyqxmd.com/read/28333916/genetic-susceptibility-to-bilateral-tinnitus-in-a-swedish-twin-cohort
#1
Iris Lianne Maas, Petra Brüggemann, Teresa Requena, Jan Bulla, Niklas K Edvall, Jacob V B Hjelmborg, Agnieszka J Szczepek, Barbara Canlon, Birgit Mazurek, Jose A Lopez-Escamez, Christopher R Cederroth
PURPOSE: Genetic contributions to tinnitus have been difficult to determine due to the heterogeneity of the condition and its broad etiology. Here, we evaluated the genetic and nongenetic influences on self-reported tinnitus from the Swedish Twin Registry (STR). METHODS: Cross-sectional data from the STR was obtained. Casewise concordance rates (the risk of one twin being affected given that his/her twin partner has tinnitus) were compared for monozygotic (MZ) and dizygotic (DZ) twin pairs (N = 10,464 concordant and discordant twin pairs) and heritability coefficients (the proportion of the total variance attributable to genetic factors) were calculated using biometrical model fitting procedures...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28329333/pre-and-postoperative-tricuspid-regurgitation-in-patients-with-severe-symptomatic-aortic-stenosis-importance-of-pre-operative-tricuspid-annulus-diameter
#2
Claire Dumont, Elena Galli, Emmanuel Oger, Maxime Fournet, Erwan Flecher, Christophe Leclercq, Jean-Philippe Verhoye, Erwan Donal
Aims: Secondary tricuspid regurgitation (STR) is commonly found in patients with aortic stenosis and is associated with increased morbidity. The study sought to evaluate the prevalence of pre-operative STR and its progression after surgical aortic valve replacement (SAVR) or transcatheter aortic valve implantation (TAVI). Also, it sought to analyse the predictors of post-operative changes in STR. Methods and results: We prospectively evaluated 116 patients (aged 75...
March 7, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28327364/telomere-length-analysis-in-down-syndrome-birth
#3
Pranami Bhaumik, Mandar Bhattacharya, Priyanka Ghosh, Sujoy Ghosh, Subrata Kumar Dey
Human reproductive fitness depends upon telomere chemistry. Maternal age, meiotic nondisjunction error and telomere length of mother of trisomic child are someway associated. Reports exhibiting maternal inheritance of telomere length in Down syndrome child are very scanty. To investigate this, we collected peripheral blood from 170 mothers of Down syndrome child and 186 age matched mothers of euploid child with their newly born babies. Telomere length was measured by restriction digestion - southern blotting technique...
March 19, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28322228/a-clear-bias-in-parental-origin-of-de-novo-pathogenic-cnvs-related-to-intellectual-disability-developmental-delay-and-multiple-congenital-anomalies
#4
Ruiyu Ma, Linbei Deng, Yan Xia, Xianda Wei, Yingxi Cao, Ruolan Guo, Rui Zhang, Jing Guo, Desheng Liang, Lingqian Wu
Copy number variation (CNV) is of great significance in human evolution and disorders. Through tracing the parent-of-origin of de novo pathogenic CNVs, we are expected to investigate the relative contributions of germline genomic stability on reproductive health. In our study, short tandem repeat (STR) and single nucleotide polymorphism (SNP) were used to determine the parent-of-origin of 87 de novo pathogenic CNVs found in unrelated patients with intellectual disability (ID), developmental delay (DD) and multiple congenital anomalies (MCA)...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28321376/role-of-glioblastoma-craniotomy-related-to-patient-survival-a-10-year-survey-in-a-tertiary-care-hospital-in-pakistan
#5
Saman Shahid, Kamran Hussain
A total of 270 glioblastoma patients were treated for tumor resection during 2004 to 2014. The following variables were examined: patient age group (PAG) and percent of the extent of resection (EOR) in four types of resections: gross total resection (GTR), subtotal resection (STR), partial resection (PR), and biopsy/decompression (BD). The Karnofsky performance scale (KPS) was used and the average survival time noted. The least survival time (7 months) was noticed in the patient age group 18 to 35 years with biopsy only, whereas, the maximum survival time (14...
April 2017: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/28317808/isolation-and-characterization-of-nontuberculous-mycobacteria-from-patients-with-pulmonary-tuberculosis-in-ghana
#6
Isaac Darko Otchere, Adwoa Asante-Poku, Stephen Osei-Wusu, Samuel Yaw Aboagye, Dorothy Yeboah-Manu
OBJECTIVE/BACKGROUND: Nontuberculous mycobacterial (NTM) species are assuming public health importance in pulmonary diseases; they are increasingly being isolated, and importantly, most NTMs do not respond to routine tuberculosis (TB) drugs. This study aimed to identify NTMs isolated from pulmonary TB cases and also determine their susceptibility to streptomycin (STR), isoniazid (INH), and rifampicin (RIF). METHODS: A total of 1755 mycobacterial isolates, obtained between August 2012 and July 2014, from 2036 smear-positive pulmonary cases were identified using polymerase chain reaction amplification of IS6110, and hsp65 gene sequencing analysis...
January 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28315050/forensic-use-of-y-chromosome-dna-a-general-overview
#7
REVIEW
Manfred Kayser
The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short tandem repeat polymorphisms (Y-STRs) are used to characterise paternal lineages of unknown male trace donors, especially suitable when males and females have contributed to the same trace, such as in sexual assault cases...
March 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28314876/effect-of-remote-ischemic-postconditioning-during-thrombolysis-in-stemi
#8
S Ghaffari, L Pourafkari, S Manzouri, N D Nader
BACKGROUND: Remote ischemic postconditioning (RIPC) is suggested to protect the myocardium against ischemia in various settings. However, the effect of RIPC in patients with acute ST-elevation myocardial infarction (STEMI) who undergo thrombolysis has yet to be examined. PATIENTS AND METHODS: In this single-center, randomized controlled trial, we examined the effect of RIPC on the resolution of ST-segment elevation (STR) in response to thrombolysis. Patients in the RIPC group had three cycles of 5‑min cuff inflation followed by 5‑min deflation to the upper arm...
March 17, 2017: Herz
https://www.readbyqxmd.com/read/28304377/establishment-of-a-novel-cellular-model-for-myxofibrosarcoma-heterogeneity
#9
Birgit Lohberger, Nicole Stuendl, Andreas Leithner, Beate Rinner, Stefan Sauer, Karl Kashofer, Bernadette Liegl-Atzwanger
Human cancers frequently display substantial intra-tumoural heterogeneity in virtually all distinguishable phenotypic features, such as cellular morphology, gene expression, and metastatic potential. In order to investigate tumour heterogeneity in myxofibrosarcoma, we established a novel myxofibrosarcoma cell line with two well defined sub-clones named MUG-Myx2a and MUG-Myx2b. The parental tumour tissue and both MUG-Myx2 cell lines showed the same STR profile. The fact that MUG-Myx2a showed higher proliferation activity, faster migration and enhanced tumourigenicity was of particular interest...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28303909/sprint-interval-training-induces-a-sexual-dimorphism-but-does-not-improve-peak-bone-mass-in-young-and-healthy-mice
#10
Kathrin Koenen, Isabell Knepper, Madlen Klodt, Anja Osterberg, Ioannis Stratos, Thomas Mittlmeier, Tina Histing, Michael D Menger, Brigitte Vollmar, Sven Bruhn, Brigitte Müller-Hilke
Elevated peak bone mass in early adulthood reduces the risk for osteoporotic fractures at old age. As sports participation has been correlated with elevated peak bone masses, we aimed to establish a training program that would efficiently stimulate bone accrual in healthy young mice. We combined voluntary treadmill running with sprint interval training modalities that were tailored to the individual performance limits and were of either high or intermediate intensity. Adolescent male and female STR/ort mice underwent 8 weeks of training before the hind legs were analyzed for cortical and trabecular bone parameters and biomechanical strength...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28303517/vascular-and-perivascular-niches-but-not-the-osteoblastic-niche-are-numerically-restored-following-allogeneic-hematopoietic-stem-cell-transplantation-in-patients-with-aplastic-anemia
#11
Liangliang Wu, Wenjian Mo, Yuping Zhang, Ming Zhou, Yumiao Li, Ruiqing Zhou, Shiling Xu, Shiyi Pan, Hui Deng, Ping Mao, Shunqing Wang
Bone marrow (BM) niches, including the osteoblastic, vascular, and perivascular niches, are numerically impaired in patients with aplastic anemia (AA). It remains unclear whether these niches are numerically restored in AA patients after allogenic hematopoietic stem cell transplantation (allo-HSCT). To investigate changes in BM niches, we monitored 52 patients with AA who had undergone allo-HSCT and performed immunohistochemical studies of BM niches using antibodies against CD34, CD146, and osteopontin. After allo-HSCT, patients with AA exhibited a remarkable increase in the number of cellular elements in the BM niches, including the vascular and perivascular cells...
March 16, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28295662/chilled-and-post-thaw-storage-of-sperm-in-different-goldfish-types
#12
G Bernáth, I Ittzés, Z Szabó, Á Horváth, S Krejszeff, J Lujić, L Várkonyi, B Urbányi, Z Bokor
The effective storage time of sperm after stripping (for 48 hr in 6-hr intervals) and after thawing (for 6 hr in 2-hr intervals) in Black moor, Oranda and Calico goldfish types was investigated. Variations in sperm density were also measured in all lines. The efficiency of a sperm cryopreservation method formerly developed for common carp was recorded in all three goldfish lines. Motility parameters ((pMOT, %), curvilinear velocity (VCL, μm/s) and straightness (STR, %)) of Black moor sperm did not decrease significantly during 48 hr of storage...
March 12, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28292727/analysis-of-dna-from-post-blast-pipe-bomb-fragments-for-identification-and-determination-of-ancestry
#13
Esiri Tasker, Bobby LaRue, Charity Beherec, David Gangitano, Sheree Hughes-Stamm
Improvised explosive devices (IEDs) such as pipe bombs are weapons used to detrimentally affect people and communities. A readily accessible brand of exploding targets called Tannerite® has been identified as a potential material for abuse as an explosive in pipe bombs. The ability to recover and genotype DNA from such weapons may be vital in the effort to identify suspects associated with these devices. While it is possible to recover DNA from post-blast fragments using short tandem repeat markers (STRs), genotyping success can be negatively affected by low quantities of DNA, degradation, and/or PCR inhibitors...
March 1, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28289852/tumor-infiltrating-lymphocytes-and-molecular-response-after-neoadjuvant-therapy-for-hr-her2-%C3%A2-breast-cancer-results-from-two-prospective-trials
#14
M V Dieci, A Frassoldati, D Generali, G Bisagni, F Piacentini, L Cavanna, K Cagossi, F Puglisi, A Michelotti, R Berardi, G Banna, A Goubar, G Ficarra, G Griguolo, Pierfranco Conte, V Guarneri
PURPOSE: The aim was to evaluate the role of tumor-infiltrating lymphocytes (TIL) in predicting molecular response after preoperative endocrine or cytotoxic treatment for HR+/HER2- patients who do not achieve a pathological complete response. METHODS: Stromal (Str) TIL were centrally evaluated on samples from diagnostic core-biopsies of HR+/HER2- patients included in two prospective randomized trials: the LETLOB trial (neoadjuvant endocrine-based treatment) and the GIOB trial (neoadjuvant chemotherapy-based treatment)...
March 13, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28288660/evidence-of-metachronous-development-of-ovarian-teratomas-a-case-report-of-bilateral-mature-cystic-teratomas-of-the-ovaries-and-systematic-literature-review
#15
Wen-Chung Wang, Yen-Chein Lai
BACKGROUND: Mature cystic teratomas are usually found in the ovaries. They are bilateral in 10 to 15% of cases and multiple cystic teratomas may be present in one ovary. The aim of this study is to clarify if development of mature cystic teratomas of the ovaries in a single host is metachronous or due to autoimplant or recurrence. CASE PRESENTATION: We report a woman with bilateral mature cystic teratomas of the ovaries. DNA profiles of these teratomas were investigated via short tandem repeat (STR) analysis and methylation statuses were determined via methylation sensitive multiplex ligation-dependent probe amplification methods...
March 14, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28286611/the-relationship-between-str-pcr-chimerism-analysis-and-chronic-gvhd-following-hematopoietic-stem-cell-transplantation
#16
Seyed Asadollah Mousavi, Mina Javadimoghadam, Ardeshir Ghavamzadeh, Kamran Alimoghaddam, Azadeh Sayarifard, Seyed-Hamidollah Ghaffari, Bahram Chahardouli, Ali Basi
Background: The study attempts to assess the relationship between chimerism analysis using polymerase chain reaction of short tandem repeat (STR) and the incidence of chronic graft versus host disease (GvHD) as well as survival. Subjects and Methods: The retrospective cohort included all patients who received allo-HSCT during 2005-2013. Data collected by day +100 were reviewed in terms of the incidence of chronic GvHD and survival. Chimerism was evaluated for whole blood, T-cell and PMN cells on days 15, 30 and 60, respectively using polymerase chain reaction of short tandem repeat (STR)...
January 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/28284873/establishing-a-reference-dataset-for-the-authentication-of-spinal-muscular-atrophy-cell-lines-using-str-profiling-and-digital-pcr
#17
Deborah L Stabley, Jennifer Holbrook, Ashlee W Harris, Kathryn J Swoboda, Thomas O Crawford, Katia Sol-Church, Matthew E R Butchbach
Fibroblasts and lymphoblastoid cell lines (LCLs) derived from individuals with spinal muscular atrophy (SMA) have been and continue to be essential for translational SMA research. Authentication of cell lines helps ensure reproducibility and rigor in biomedical research. This quality control measure identifies mislabeling or cross-contamination of cell lines and prevents misinterpretation of data. Unfortunately, authentication of SMA cell lines used in various studies has not been possible because of a lack of a reference...
February 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28283867/postoperative-neuroimaging-analysis-of-drt-deep-brain-stimulation-revision-surgery-for-complicated-essential-tremor
#18
Volker Arnd Coenen, Balint Varkuti, Yaroslav Parpaley, Sabine Skodda, Thomas Prokop, Horst Urbach, Meng Li, Peter Christoph Reinacher
BACKGROUND: We report a patient who received conventional bilateral deep brain stimulation of the ventral intermediate nucleus of thalamus (Vim) for the treatment of medication refractory essential tremor (ET). After initial beneficial effects, therapeutic efficacy was lost due to a loss of control of his proximal trunkal and extremity tremor. The patient received successful diffusion tensor magnetic resonance imaging fiber tractographic (DTI FT)-assisted DBS revision surgery targeting the dentato-rubro-thalamic tract (DRT) in the subthalamic region (STR)...
March 10, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28279935/evaluation-of-the-illumina-forenseq%C3%A2-dna-signature-prep-kit-mps-forensic-application-for-the-miseq-fgx%C3%A2-benchtop-sequencer
#19
Catarina Xavier, Walther Parson
Massively Parallel (Next Generation) Sequencing (MPS) technologies have recently been proven useful and successful in typing various markers relevant in forensic genetics, such as STRs, SNPs and mitochondrial genomes. Early studies investigated self-developed DNA libraries, commercially supplied kits are currently being made available to allow a smoother and gradual implementation of such technologies in forensic laboratories. The ForenSeq™ DNA Signature Prep Kit (Illumina, CA) is the first commercially available STR kit that can be used on the MiSeq FGx™ (Illumina, CA) benchtop high-throughput sequencer...
March 1, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28279680/antioxidant-effect-of-quercetin-in-an-extender-containing-dma-or-glycerol-on-freezing-capacity-of-goat-semen
#20
Afshin Seifi-Jamadi, Ejaz Ahmad, Mahdi Ansari, Hamid Kohram
This study was performed to evaluate the effectiveness of quercetin as a non-enzymatic antioxidant in combination with glycerol or Dimethylacetamide (DMA), on freezability of goat semen. Ejaculates from four healthy mature Mahabadi goats were collected using an artificial vagina. After primary processing, semen was pooled and extended by egg yolk based extender supplemented with different concentrations of quercetin (10 or 20 μM) along with 5% glycerol or DMA. The extended semen was frozen and sperm motility parameters, viability, abnormality, membrane integrity and lipid peroxidation were assessed after thawing...
March 6, 2017: Cryobiology
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