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https://www.readbyqxmd.com/read/29240829/celsr2-is-a-candidate-susceptibility-gene-in-idiopathic-scoliosis
#1
Elisabet Einarsdottir, Anna Grauers, Jingwen Wang, Hong Jiao, Stefan A Escher, Aina Danielsson, Ane Simony, Mikkel Andersen, Steen Bach Christensen, Kristina Åkesson, Ikuyo Kou, Anas M Khanshour, Acke Ohlin, Carol Wise, Shiro Ikegawa, Juha Kere, Paul Gerdhem
A Swedish pedigree with an autosomal dominant inheritance of idiopathic scoliosis was initially studied by genetic linkage analysis, prioritising genomic regions for further analysis. This revealed a locus on chromosome 1 with a putative risk haplotype shared by all affected individuals. Two affected individuals were subsequently exome-sequenced, identifying a rare, non-synonymous variant in the CELSR2 gene. This variant is rs141489111, a c.G6859A change in exon 21 (NM_001408), leading to a predicted p.V2287I (NP_001399...
2017: PloS One
https://www.readbyqxmd.com/read/29239899/stroke-severity-quantification-by-critical-care-physicians-in-a-mobile-stroke-unit
#2
Maren R Hov, Jo Røislien, Thomas Lindner, Erik Zakariassen, Kristi C G Bache, Volker M Solyga, David Russell, Christian G Lund
BACKGROUND: Cerebral revascularization in acute stroke requires robust diagnostic tools close to symptom onset. The quantitative National Institute of Health Stroke Scale (NIHSS) is widely used in-hospital, whereas shorter and less specific stroke scales are used in the prehospital field. This study explored the accuracy and potential clinical benefit of using NIHSS prehospitally. PATIENTS AND METHODS: Thirteen anesthesiologists trained in prehospital critical care enrolled patients with suspected acute stroke in a mobile stroke unit...
December 12, 2017: European Journal of Emergency Medicine: Official Journal of the European Society for Emergency Medicine
https://www.readbyqxmd.com/read/29234727/the-dual-role-of-bone-morphogenetic-proteins-in-cancer
#3
REVIEW
Duc-Hiep Bach, Hyen Joo Park, Sang Kook Lee
Bone morphogenetic proteins (BMPs) are a diverse class of molecules with over 20 growth factor proteins that belong to the transforming growth factor-β (TGF-β) family and are highly associated with bone formation and disease development. Aberrant expression of various BMPs has been reported in several cancer tissues. Biological function studies have elicited the dual role of BMPs in both cancer development and suppression. Furthermore, a variety of BMP antagonists, ligands, and receptors have been shown to reduce or enhance tumorigenesis and metastasis...
March 30, 2018: Molecular Therapy Oncolytics
https://www.readbyqxmd.com/read/29230924/response-in-a-child-with-a-braf-v600e-mutated-desmoplastic-infantile-astrocytoma-upon-retreatment-with-vemurafenib
#4
Cornelis M van Tilburg, Florian Selt, Felix Sahm, Heidi Bächli, Stefan M Pfister, Olaf Witt, Till Milde
Infants with low-grade glioma (LGG) and diencephalic syndrome have a poor outcome. The patient described here had a desmoplastic infantile astrocytoma harboring a BRAF V600E mutation. After relapse following initial standard chemotherapy treatment, he was successfully treated with the BRAF V600E inhibitor vemurafenib at the age of 3 years 11 months and 5 years 0 months. A rapid response was observed on both occasions. This illustrates the possibility of continuous oncogenic addiction and the therapeutic potential of BRAF V600E inhibitor monotherapy in LGG, even in very young severely compromised children...
December 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29228040/consequences-of-supplying-methyl-donors-during-pregnancy-on-the-methylome-of-the-offspring-from-lactating-and-non-lactating-dairy-cattle
#5
Alex Bach, Anna Aris, Isabel Guasch
The aim of this study was to evaluate the potential effects of methyl donor supplementation of pregnant animals in the presence or absence of a concomitant lactation on the methylome of the offspring. Twenty Holstein cows, 10 nulliparous (non-lactating while pregnant) and 10 multiparous (lactating while pregnant) were blocked by parity and randomly assigned to an i.m. weekly injections of a placebo (CTRL) or a solution containing methyl donors (MET). After calving, 5 calves randomly selected from each treatment (two born to non-lactating and three to lactating dams) were blood-sampled to determine their full methylome...
2017: PloS One
https://www.readbyqxmd.com/read/29226598/the-time-has-come-for-dimensional-personality-disorder-diagnosis
#6
Christopher J Hopwood, Roman Kotov, Robert F Krueger, David Watson, Thomas A Widiger, Robert R Althoff, Emily B Ansell, Bo Bach, R Michael Bagby, Mark A Blais, Marina A Bornovalova, Michael Chmielewski, David C Cicero, Christopher Conway, Barbara De Clerq, Filip De Fruyt, Anna R Docherty, Nicholas R Eaton, John F Edens, Miriam K Forbes, Kelsie T Forbush, Michael P Hengartner, Masha Y Ivanova, Daniel Leising, W John Livesley, Mark R Lukowitsky, Donald R Lynam, Kristian E Markon, Joshua D Miller, Leslie C Morey, Stephanie N Mullins-Sweatt, J Hans Ormel, Christopher J Patrick, Aaron L Pincus, Camilo Ruggero, Douglas B Samuel, Martin Sellbom, Tim Slade, Jennifer L Tackett, Katherine M Thomas, Timothy J Trull, David D Vachon, Irwin D Waldman, Monika A Waszczuk, Mark H Waugh, Aidan G C Wright, Mathew M Yalch, David H Zald, Johannes Zimmermann
No abstract text is available yet for this article.
December 11, 2017: Personality and Mental Health
https://www.readbyqxmd.com/read/29225342/differentiation-dynamics-of-mammary-epithelial-cells-revealed-by-single-cell-rna%C3%A2-sequencing
#7
Karsten Bach, Sara Pensa, Marta Grzelak, James Hadfield, David J Adams, John C Marioni, Walid T Khaled
Characterising the hierarchy of mammary epithelial cells (MECs) and how they are regulated during adult development is important for understanding how breast cancer arises. Here we report the use of single-cell RNA sequencing to determine the gene expression profile of MECs across four developmental stages; nulliparous, mid gestation, lactation and post involution. Our analysis of 23,184 cells identifies 15 clusters, few of which could be fully characterised by a single marker gene. We argue instead that the epithelial cells-especially in the luminal compartment-should rather be conceptualised as being part of a continuous spectrum of differentiation...
December 11, 2017: Nature Communications
https://www.readbyqxmd.com/read/29216848/anterior-sacral-meningocele-infected-with-fusobacterium-in-a-patient-with-recently-diagnosed-colorectal-carcinoma-a-case-report
#8
Anne K Braczynski, Marc A Brockmann, Torben Scholz, Jan-Philipp Bach, Jörg B Schulz, Simone C Tauber
BACKGROUND: Anterior sacral meningoceles are rare, and usually occur with other malformations of the posterior lower spine. While these are more frequently reported in pediatric cohorts, we report a case in an elderly woman. CASE PRESENTATION: We report on a 71 year-old woman with a recently diagnosed colorectal adenocarcinoma who presented with a severe bacterial meningitis. The cerebrospinal fluid cell count revealed a pleocytosis of 80,000 cells/μl and a severe disturbance of the blood-brain-barrier...
December 8, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29215551/cmg2-expression-is-an-independent-prognostic-factor-for-soft-tissue-sarcoma-patients
#9
Thomas Greither, Alice Wedler, Swetlana Rot, Jacqueline Keßler, Astrid Kehlen, Hans-Jürgen Holzhausen, Matthias Bache, Peter Würl, Helge Taubert, Matthias Kappler
The capillary morphogenesis gene 2 (CMG2), also known as the anthrax toxin receptor 2 (ANTXR2), is a transmembrane protein putatively involved in extracellular matrix (ECM) adhesion and tissue remodeling. CMG2 promotes endothelial cell proliferation and exhibits angiogenic properties. Its downregulation is associated with a worsened survival of breast carcinoma patients. Aim of this study was to analyze the CMG2 mRNA and protein expression in soft tissue sarcoma and their association with patient outcome. CMG2 mRNA was measured in 121 tumor samples of soft tissue sarcoma patients using quantitative real-time PCR...
December 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29214236/characterization-of-byproducts-from-chemical-syntheses-of-oligonucleotides-containing-1-methyladenine-and-3-methylcytosine
#10
Qi Tang, Ang Cai, Ke Bian, Fangyi Chen, James C Delaney, Sravani Adusumalli, Alvin C Bach, Fatemeh Akhlaghi, Bongsup P Cho, Deyu Li
Oligonucleotides serve as important tools for biological, chemical, and medical research. The preparation of oligonucleotides through automated solid-phase synthesis is well-established. However, identification of byproducts generated from DNA synthesis, especially from oligonucleotides containing site-specific modifications, is sometimes challenging. Typical high-performance liquid chromatography (HPLC), mass spectrometry (MS), and gel electrophoresis methods alone are not sufficient for characterizing unexpected byproducts, especially for those having identical or very similar molecular weight (MW) to the products...
November 30, 2017: ACS Omega
https://www.readbyqxmd.com/read/29208357/differential-expression-of-igfbps-in-laron-syndrome-derived-lymphoblastoid-cell-lines-potential-correlation-with-reduced-cancer-incidence
#11
Lina Somri, Rive Sarfstein, Lena Lapkina-Gendler, Karthik Nagaraj, Zvi Laron, Leon A Bach, Haim Werner
Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is a growth disorder that results from mutation of the GH-receptor (GHR) gene leading to congenital insulin-like growth factor-1 (IGF-1) deficiency. Recent epidemiological studies have shown that LS patients are protected from cancer development. Genome-wide profiling identified genes and signaling pathways that are differentially represented in LS patients, and that may contribute to cancer protection. The present study was aimed at evaluating the hypothesis that IGF binding proteins (IGFBPs) are differentially expressed in LS, most probably as a result of low circulating levels of IGF-1...
November 24, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29202263/does-graft-particle-type-and-size-affect-ridge-dimensional-changes-after-alveolar-ridge-split-procedure
#12
Mohit G Kheur, Supriya Kheur, Tabrez Lakha, Shantanu Jambhekar, Bach Le, Vinay Jain
PURPOSE: The absence of an adequate volume of bone at implant sites requires augmentation procedures before the placement of implants. The aim of the present study was to assess the ridge width gain with the use of allografts and biphasic β-tricalcium phosphate with hydroxyapatite (alloplast) in ridge split procedures, when each were used in small (0.25 to 1 mm) and large (1 to 2 mm) particle sizes. PATIENTS AND METHODS: A randomized controlled trial of 23 subjects with severe atrophy of the mandible in the horizontal dimension was conducted in a private institute...
December 1, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29195953/effect-of-glycation-derived-from-%C3%AE-dicarbonyl-compounds-on-the-in-vitro-digestibility-of-%C3%AE-casein-and-%C3%AE-lactoglobulin-a-model-study-with-glyoxal-methylglyoxal-and-butanedione
#13
Di Zhao, Thao T Le, Lotte Bach Larsen, Lin Li, Dan Qin, Guoying Su, Bing Li
α-Dicarbonyl compounds, which are widely found in common consumed food, are one of the precursors of advanced glycation end products (AGEs). In this study, the effect of glycation derived from glyoxal (GO), methylglyoxal (MGO) or butanedione (BU) on the in vitro digestibility of β-casein (β-CN) and β-lactoglobulin (β-Lg) was investigated. Glycation from α-dicarbonyl compounds reduced the in vitro digestibility of studied proteins in both gastric and intestinal stage. In addition, glycation substantially altered the peptides released through gastric and gastrointestinal digestion, as detected by liquid chromatography electrospray-ionization tandem mass spectrometry (LC-ESI-MS/MS)...
December 2017: Food Research International
https://www.readbyqxmd.com/read/29194351/identification-of-a-raloxifene-analog-that-promotes-ahr-mediated-apoptosis-in-cancer-cells
#14
Hyo Sang Jang, Martin Pearce, Edmond F O'Donnell, Bach Duc Nguyen, Lisa Truong, Monica J Mueller, William H Bisson, Nancy I Kerkvliet, Robert L Tanguay, Siva Kumar Kolluri
We previously reported that raloxifene, an estrogen receptor modulator, is also a ligand for the aryl hydrocarbon receptor (AhR). Raloxifene induces apoptosis in estrogen receptor-negative human cancer cells through the AhR. We performed structure-activity studies with seven raloxifene analogs to better understand the structural requirements of raloxifene for induction of AhR-mediated transcriptional activity and apoptosis. We identified Y134 as a raloxifene analog that activates AhR-mediated transcriptional activity and induces apoptosis in MDA-MB-231 human triple negative breast cancer cells...
December 1, 2017: Biology
https://www.readbyqxmd.com/read/29190760/simulated-ocean-acidification-reveals-winners-and-losers-in-coastal-phytoplankton
#15
Lennart T Bach, Santiago Alvarez-Fernandez, Thomas Hornick, Annegret Stuhr, Ulf Riebesell
The oceans absorb ~25% of the annual anthropogenic CO2 emissions. This causes a shift in the marine carbonate chemistry termed ocean acidification (OA). OA is expected to influence metabolic processes in phytoplankton species but it is unclear how the combination of individual physiological changes alters the structure of entire phytoplankton communities. To investigate this, we deployed ten pelagic mesocosms (volume ~50 m3) for 113 days at the west coast of Sweden and simulated OA (pCO2 = 760 μatm) in five of them while the other five served as controls (380 μatm)...
2017: PloS One
https://www.readbyqxmd.com/read/29184694/survivorship-after-treatment-of-pancreatic-cancer-insights-via-an-internet-based-survivorship-care-plan-tool
#16
REVIEW
Melissa A Frick, Carolyn C Vachani, Margaret K Hampshire, Christina Bach, Karen Arnold-Korzeniowski, James M Metz, Christine E Hill-Kayser
Pancreatic cancer survivors face a unique set of challenges in survivorship, yet structured survivorship care planning is lacking in practice. Survivorship care plans (SCPs) are an essential part of quality cancer care and can facilitate the transition following active treatment; the use of SCPs in pancreatic cancer survivors, however, has not been explored. With a convenience sample of 117 pancreatic cancer survivors and proxies who used an Internet-based SCP tool, we examined treatment details, patient-reported outcomes, and survivorship practices...
October 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/29183892/treatment-of-advanced-colorectal-cancer-in-a-patient-with-cardiotoxic-reactions-to-5-fluorouracil-and-capecitabine-using-suboptimal-doses
#17
Joseph H Cioffi, Derek J Estes, Vaia Florou, Bach Ardalan
A 32-year-old female with stage IV colorectal cancer and metastasis to the liver experienced cardiotoxic reactions after treatment with 5-fluorouracil and its oral prodrug capecitabine even at two-thirds the recommended dose. After careful considerations, the decision was made to attempt capecitabine retrial at a further suboptimal dose with combination chemotherapy where she no longer experienced cardiac events. As a result, the liver tumour shrank and rectal mass stabilised, tumour markers dropped and she underwent surgical resection of both masses...
November 27, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29179780/a-highly-transmissible-tuberculosis-outbreak-the-importance-of-bars
#18
P Godoy, M Alsedà, M Falguera, T Puig, P Bach, M Monrabà, A Manonelles
The transmission of tuberculosis (TB) in bars is difficult to study. The objective was to describe a large TB outbreak in a company's bar and other leisure settings. A descriptive study of a TB outbreak was carried out. Contacts were studied in the index case's workplace bar (five circles of contacts) and other recreational areas (social network of three bars in the index case's neighbourhood). Chest X-rays were recommended to contacts with positive tuberculin skin tests (TST) (⩾5 mm). The risk of latent tuberculosis infection (LTBI) was determined using an adjusted odds ratio...
November 28, 2017: Epidemiology and Infection
https://www.readbyqxmd.com/read/29179481/notochordal-cell-derived-extracellular-vesicles-exert-regenerative-effects-on-canine-and-human-nucleus-pulposus-cells
#19
Frances Bach, Sten Libregts, Laura Creemers, Björn Meij, Keita Ito, Marca Wauben, Marianna Tryfonidou
During intervertebral disc ageing, chondrocyte-like cells (CLCs) replace notochordal cells (NCs). NCs have been shown to induce regenerative effects in CLCs. Since vesicles released by NCs may be responsible for these effects, we characterized NC-derived extracellular vesicles (EVs) and determined their effect on CLCs. EVs were purified from porcine NC-conditioned medium (NCCM) through size exclusion chromatography, ultracentrifugation or density gradient centrifugation. Additionally, the EVs were quantitatively analyzed by high-resolution flow cytometry...
October 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/29178987/time-to-threshold-as-a-new-indicator-of-circulatory-state-and-prognosis-in-patients-with-pulmonary-embolism
#20
Andreas Gunter Bach, Bettina-Maria Taute, Alexey Surov
BACKGROUND: Bolus tracking is commonly applied in computed tomography pulmonary angiography. The time that it takes for contrast to reach a predefined threshold in the pulmonary artery is called time to threshold (TTT). TTT could be associated with the circulatory state, and ultimately with prognosis in patients with PE. AIM: The purpose of the present study was to examine the correlation of TTT with embolus burden, radiological and clinical parameters of circulatory state, and ultimately with 30-day mortality...
November 16, 2017: Thrombosis Research
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