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https://www.readbyqxmd.com/read/28544517/fetoscopic-laser-photocoagulation-for-amniotic-fluid-discordance-bordering-on-twin-twin-transfusion-syndrome-feasibility-perinatal-and-long-term-outcomes
#1
Katsusuke Ozawa, Rika Sugibayashi, Seiji Wada, Masahiro Sumie, Keisuke Ishii, Masahiko Nakata, Takeshi Murakoshi, Yushi Ito, Haruhiko Sago
AIM: This study investigated the feasibility and safety of fetoscopic laser photocoagulation (FLP) for amniotic fluid discordance (AFD) bordering on twin-twin transfusion syndrome (TTTS) with an absent or reverse end-diastolic velocity (AREDV) in the umbilical artery (UA), and evaluated the perinatal and long-term outcomes. METHODS: A prospective intervention study was performed between 20 + 0 and 25 + 6 weeks of gestation (UMIN000004165). AFD bordering on TTTS was defined as maximum vertical pocket (MVP) of amniotic fluid in one twin's sac ≤3 cm and amniotic fluid MVP in the other twin's sac ≥7 cm excluding TTTS...
May 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28544142/discordant-phenotypes-in-monozygotic-twins-with-16p11-2-microdeletions-including-the-sh2b1-gene
#2
Lin Li, Linhuan Huang, Shaobin Lin, Yanmin Luo, Qun Fang
A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left hydronephrosis, and moderate developmental delay, whereas twin B exhibited single umbilical artery. Chromosome microarray analysis was performed on both twins and their parents...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28534357/comparative-study-of-receptor-discordance-between-primary-and-corresponding-metastatic-lesions-in-breast-cancer
#3
Gokmen U Erdem, Kadri Altundag, Nuriye Y Ozdemir, Suleyman Sahin, Nebi S Demirci, Fatih Karatas, Yakup Bozkaya, Aydin Aytekin, Vildan Tasdemir, Alma C Aslan, Ali R Sever, Nurullah Zengin
PURPOSE: It is well-known that tumor phenotype may change during the progression of breast cancer (BC). The purpose in this study was to compare the discordance in estrogen receptor (ER), progesterone receptor (PgR) and human epidermal growth factor receptor 2 (HER2) between primary and recurrent/metastatic lesions (RML) and also to evaluate the prognostic significance of change in tumor phenotype on survival in patients with metastatic BC. METHODS: The medical records of 6638 patients with BC from two breast centers treated between 1992 and 2015 were retrospectively analyzed...
March 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28529880/cytologic-assessment-of-estrogen-receptor-progesterone-receptor-and-her2-status-in-metastatic-breast-carcinoma
#4
Fresia Pareja, Melissa P Murray, Ryan Des Jean, Fumiko Konno, Maria Friedlander, Oscar Lin, Marcia Edelweiss
BACKGROUND: Discordance in the receptor status between primary breast carcinomas (PBC) and corresponding metastasis is well documented. Interrogation of the receptor status of metastatic breast carcinoma (MBC) in cytology material is common practice; however, its utility has not been thoroughly validated. We studied patients with MBC, and evaluated the concordance rates of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) between PBC surgical specimens and corresponding MBC cell blocks (CBs)...
January 2017: Journal of the American Society of Cytopathology
https://www.readbyqxmd.com/read/28484895/diagnosis-of-umbilical-cord-entanglement-in-a-monochorionic-diamniotic-twin-pregnancy-with-spontaneous-septostomy-of-the-dividing-membranes-using-dual-gate-doppler-imaging
#5
Ayumu Ito, Masahiko Nakata, Ayako Oji, Mayumi Takano, Nahomi Umemura, Sumito Nagasaki, Toshimitsu Maemura, Mineto Morita
Umbilical cord entanglement is the leading cause of fetal mortality in monoamniotic twin pregnancies and a pseudo monoamniotic environment. Published methods for detecting this complication include color Doppler and pulsed Doppler sonography; however, no method provides an absolute diagnosis. In this case, we report the diagnosis of umbilical cord entanglement using dual-gate Doppler imaging. A 35-year-old woman was referred to our hospital at 28 weeks of gestation for prenatal management because of diagnosis of a monochorionic diamniotic twin pregnancy with spontaneous septostomy of the dividing membranes...
May 8, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28481944/a-consistent-and-potentially-exploitable-response-during-chondrogenesis-of-mesenchymal-stem-cells-from-osteoarthritis-patients-to-the-protein-encoded-by-the-susceptibility-gene-gdf5
#6
Madhushika Ratnayake, Maria Tselepi, Robert Bloxham, Frank Plöger, Louise N Reynard, John Loughlin
Osteoarthritis (OA) is a common joint disease characterised by the focal loss of the protective cartilage layer at the ends of the bones. It is painful, disabling, multifactorial and polygenic. The growth differentiation factor 5 gene GDF5 was one of the first reported OA susceptibility signals that showed consistent association to OA, with the transcript single nucleotide polymorphism (SNP) rs143383 demonstrating association in Asians and Europeans. The functional effect of the signal is reduced expression of the gene...
2017: PloS One
https://www.readbyqxmd.com/read/28475796/real-life-clinical-practice-of-using-the-xpert-mtb-rif-assay-in-thailand
#7
Kamon Kawkitinarong, Gompol Suwanpimolkul, Pairaj Kateruttanakul, Weerawat Manosuthi, Sasiwimol Ubolyam, Jiratchaya Sophonphan, Anchalee Avihingsanon, Kiat Ruxrungtham
Background: Delayed diagnosis of tuberculosis (TB) and drug-resistant TB are major challenges of TB control in Thailand. This study assessed the practicality of the Xpert MTB/RIF assay in a real-life setting with high prevalence of human immunodeficiency virus (HIV) infection and pulmonary tuberculosis (PTB). Methods: This prospective study was conducted at 3 large tertiary care hospitals. Patients who had suspected PTB were enrolled into the study. Expectorated sputum samples were sent for staining, mycobacterial culture, and Xpert MTB/RIF...
May 15, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28460632/her2-assessment-using-quantitative-reverse-transcriptase-polymerase-chain-reaction-reliably-identifies-her2-overexpression-without-amplification-in-breast-cancer-cases
#8
Gabriele Zoppoli, Anna Garuti, Gabriella Cirmena, Ludovica Verdun di Cantogno, Cristina Botta, Maurizio Gallo, Domenico Ferraioli, Enrico Carminati, Paola Baccini, Monica Curto, Piero Fregatti, Edoardo Isnaldi, Michela Lia, Roberto Murialdo, Daniele Friedman, Anna Sapino, Alberto Ballestrero
BACKGROUND: Immunohistochemistry (IHC) and fluorescent-in situ hybridization (FISH) are standard methods to assess human epidermal growth factor receptor 2 (HER2) status in breast cancer (BC) patients. Real-time quantitative polymerase-chain-reaction (qRT-PCR) is able to detect HER2 overexpression. Here we compared FISH, IHC, quantitative PCR (qPCR), and qRT-PCR to determine the concordance rates and evaluate their relative roles in HER2 determination. PATIENTS AND METHODS: We determined HER2 status in 153 BC patients, using IHC, FISH, Q-PCR and qRT-PCR...
May 1, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28457852/identification-of-a-novel-de-novo-nonsense-mutation-of-the-nsd1-gene-in-monozygotic-twins-discordant-for-sotos-syndrome
#9
Ji Yoon Han, In Goo Lee, Woori Jang, Soyoung Shin, Joonhong Park, Myungshin Kim
INTRODUCTION: Sotos syndrome is a congenital overgrowth disorder characterized by facial gestalt, excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with intellectual disability. METHODOLOGY: The identical male twins showed somewhat different clinical, cognitive and behavioural phenotypes. Abnormal clinical manifestations including seizures, scoliosis, enlarged ventricles, and attention-deficit/hyperactivity disorder (ADHD) were found in the proband (first twin), but not in the sibling (second twin)...
July 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28450296/endoglin-mediates-vascular-maturation-by-promoting-vascular-smooth-muscle-cell-migration-and-spreading
#10
Hongyu Tian, Tatiana Ketova, Duriel Hardy, Xiaojiang Xu, Xia Gao, Andries Zijlstra, Gerard C Blobe
OBJECTIVE: Endoglin, a transforming growth factor-β superfamily coreceptor, is predominantly expressed in endothelial cells and has essential roles in vascular development. However, whether endoglin is also expressed in vascular smooth muscle cells (VSMCs), especially in vivo, remains controversial. Furthermore, the roles of endoglin in VSMC biology remain largely unknown. Our objective was to examine the expression and determine the function of endoglin in VSMCs during angiogenesis...
April 27, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28447869/mitigation-of-discordant-rifampicin-susceptibility-results-obtained-by-xpert-mycobacterium-tuberculosis-rifampicin-and-mycobacterium-growth-indicator-tube
#11
Elmira Gurbanova, Rafail Mehdiyev, Kai Blondal, Rasim Tahirli, Fuad Mirzayev, Doris Hillemann, Asker Ismayilov, Alan Altraja
BACKGROUND: Simultaneous use of genotypic and phenotypic diagnostic tools for detection of rifampicin (RIF) susceptibility may yield discrepant results. OBJECTIVE: To measure the discordance between the RIF-susceptibility results by Xpert MTB/RIF and Mycobacterium Growth Indicator Tube (MGIT), to evaluate if application of both tests to the same sample affects the discrepancy, and to evaluate treatment outcome in patients with the discordant strains. DESIGN: Sputa from patients with tuberculosis managed in the penitentiary system of Azerbaijan during 2011-2015 were examined for RIF susceptibility using Xpert MTB/RIF and MGIT...
April 27, 2017: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
https://www.readbyqxmd.com/read/28441900/placental-nfe2l2-is-discordantly-activated-in-monochorionic-twins-with-selective-intrauterine-growth-restriction-and-possibly-regulated-by-hypoxia
#12
Jing Wu, Zhiming He, Yu Gao, Guanglan Zhang, Xuan Huang, Qun Fang
INTRODUCTION: Nuclear factor, erythroid 2 like 2 (NFE2L2) is an important transcription factor that protects cells from oxidative stress (OS). NFE2L2 deficiency in placentas is associated with pregnancy complications. We have demonstrated that elevated OS existed in placental shares of the smaller fetus in selective intrauterine growth restriction (sIUGR); however, the role of NFE2L2 in the development of sIUGR remains unknown. In this study, we examined the levels of NFE2L2 and heme oxygenase 1 (HMOX1), a major antioxidant regulated by NFE2L2, in sIUGR placentas...
April 25, 2017: Free Radical Research
https://www.readbyqxmd.com/read/28437586/pathogenesis-of-vascular-leak-in-dengue-virus-infection
#13
REVIEW
Gathsaurie Neelika Malavige, Graham S Ogg
Endothelial dysfunction leading to vascular leak is the hallmark of severe dengue. Vascular leak typically becomes clinically evident 3-6 days after the onset of illness, which is known as the critical phase. This critical phase follows the period of peak viraemia, and lasts for 24-48 hr and usually shows rapid and complete reversal, suggesting that it is likely to occur as a result of inflammatory mediators, rather than infection of the endothelium. Cytokines such as tumour necrosis factor-α, which are known to be elevated in the critical phase of dengue, are likely to be contributing factors...
April 24, 2017: Immunology
https://www.readbyqxmd.com/read/28432840/detection-of-egfr-mutations-in-patients-with-non-small-cell-lung-cancer-by-high-resolution-melting-comparison-with-other-methods
#14
Carlos Martínez-Carretero, Fernando Iguaz Pascual, Antonio Rus, Ivan Bernardo
BACKGROUND: The discovery of mutations in the epidermal growth factor receptor gene (EGFR) related to the clinical response to tyrosine kinase inhibitors, has transformed the management of non-small cell lung cancer (NSCLC). Several methods have been developed for determination of mutations in EGFR, with different sensitivity and potential ability to detect a different number of mutations. METHODS: We developed a screening method by high resolution melting (HRM) to detect EGFR mutations, and compared the results of 123 fixed in formalin and paraffin embedded (FFPE) tumor tissue samples with the detection of mutations by allele-specific PCR...
April 22, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28430631/loss-of-steroid-hormone-receptors-is-common-in-malignant-pleural-and-peritoneal-effusions-of-breast-cancer-patients-treated-with-endocrine-therapy
#15
Willemijne A M E Schrijver, Karianne Schuurman, Annelot van Rossum, Ton Peeters, Natalie Ter Hoeve, Wilbert Zwart, Paul J van Diest, Cathy B Moelans
Discordance in estrogen receptor alpha (ERα), progesterone receptor (PR), androgen receptor (AR) and human epidermal growth factor receptor 2 (HER2) status between primary breast cancers and solid distant metastases ("conversion") has been reported previously. Even though metastatic spread to the peritoneal and pleural cavities occurs frequently and is associated with high mortality, the rate of receptor conversion and the prognostic implications thereof remain elusive.We therefore determined receptor conversion in 91 effusion metastases (78 pleural, 13 peritoneal effusions) of 69 patients by immunohistochemistry (IHC) and in situ hybridization...
February 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28425758/agreement-between-mri-and-pathologic-analyses-for-determination-of-tumor-size-and-correlation-with-immunohistochemical-factors-of-invasive-breast-carcinoma
#16
Eun Young Yoo, Sang Yu Nam, Hye-Young Choi, Min Ji Hong
Background There may be discordance between tumor size determined by magnetic resonance imaging (MRI) and that observed during pathologic analyses. Purpose To evaluate MRI-pathology concordance of tumor size in patients with invasive breast carcinoma. Material and Methods Data from 307 invasive breast carcinomas were analyzed retrospectively. Preoperative breast MRI was reviewed for size, lesion type, morphology, and dynamic contrast-enhanced tumor kinetics. MRI tumor size was compared with tumor size measurements from the pathologic analysis...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28414009/adenosine-triphosphate-quantification-correlates-poorly-with-microbial-contamination-of-duodenoscopes
#17
Lovisa B Olafsdottir, Sharon B Wright, Anne Smithey, Riley Heroux, Elizabeth B Hirsch, Alice Chen, Benjamin Lane, Mandeep S Sawhney, Graham M Snyder
OBJECTIVE The aim of this study was to quantify the correlation between adenosine triphosphate (ATP) measurements and bacterial cultures from duodenoscopes for evaluation of contamination following high-level disinfection. DESIGN Duodenoscopes used for any intended endoscopic retrograde cholangiopancreatography (ERCP) procedure were included. Microbiologic and ATP data were collected concomitantly and in the same manner from ERCP duodenoscopes. SETTING A high-volume endoscopy unit at a tertiary referral acute-care facility...
April 17, 2017: Infection Control and Hospital Epidemiology
https://www.readbyqxmd.com/read/28401821/-70-gene-signature-as-an-aid-to-treatment-decisions-in-early-stage-breast-cancer
#18
J J M van der Hoeven
OBJECTIVE: The 70-gene signature test (MammaPrint) has been shown to improve prediction of clinical outcome in women with early-stage breast cancer. We sought to provide prospective evidence of the clinical utility of the addition of the 70-gene signature to standard clinical-pathological criteria in selecting patients for adjuvant chemotherapy. METHODS: In this randomized, phase 3 study, we enrolled 6693 women with early-stage breast cancer and determined their genomic risk (using the 70-gene signature) and their clinical risk (using a modified version of Adjuvant! Online)...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28387315/genome-wide-identification-and-functional-prediction-of-cold-and-or-drought-responsive-lncrnas-in-cassava
#19
Shuxia Li, Xiang Yu, Ning Lei, Zhihao Cheng, Pingjuan Zhao, Yuke He, Wenquan Wang, Ming Peng
Cold and drought stresses seriously affect cassava (Manihot esculenta) plant growth and yield. Recently, long noncoding RNAs (lncRNAs) have emerged as key regulators of diverse cellular processes in mammals and plants. To date, no systematic screening of lncRNAs under abiotic stress and their regulatory roles in cassava has been reported. In this study, we present the first reference catalog of 682 high-confidence lncRNAs based on analysis of strand-specific RNA-seq data from cassava shoot apices and young leaves under cold, drought stress and control conditions...
April 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28355685/-clinical-outcome-and-placenta-characteristics-of-spontaneous-twin-anemia-polycythemia-sequence
#20
X J Wang, L Y Li, Y Wei, Y Y Zhao, P B Yuan
Objective: To investigate the clinical outcome and placental characteristics of spontaneous twin anemia-polycythemia sequence (sTAPS). Methods: Twelve cases with sTAPS delivered in Peking University Third Hospital from May 2013 to August 2016. The data of ultrasound characteristics, gestational age at delivery, and 1 minute Apgar score were analyzed, retrospectively. Placental superficial vascular anastomoses, placental territory discordance and the ratio of umbilical cords insertion distance to the longest placental diameter were also analyzed...
March 25, 2017: Zhonghua Fu Chan Ke za Zhi
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