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https://www.readbyqxmd.com/read/28938745/a-closer-look-at-expanded-carrier-screening-from-a-pgd-perspective
#1
Carolina Vaz-de-Macedo, Joyce Harper
Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of genetic conditions and mutations. This is now being replaced by extended panels testing for hundreds of genetic disorders with a broad range of phenotypes, in what is called 'expanded carrier screening'. While the ultimate aim of these panels is to increase the reproductive autonomy of the individuals and couples by providing preconception knowledge that could lead to the broadest range of available options, including PGD, we argue that: (i) Given the number and heterogeneity of the conditions included in panels, it cannot be guaranteed that a couple who tests positive for one of those conditions will be eligible for PGD; patients should be informed of this potential limitation before undertaking screening...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938686/incidence-and-clearance-of-oral-human-papillomavirus-infection-a-population-based-cohort-study-in-rural-china
#2
Chaoting Zhang, Fangfang Liu, Yaqi Pan, Qiuju Deng, Xiang Li, Zhonghu He, Mengfei Liu, Tao Ning, Chuanhai Guo, Yongmei Liang, Ruiping Xu, Lixin Zhang, Hong Cai, Yang Ke
The natural history of oral human papillomavirus (HPV) infection which is linked with the increased incidence of oropharyngeal squamous cell cancer (OPSCC) has been incompletely studied. Oral swab specimens and questionnaire data were obtained bi-annually for up to 6 visits from 4314 healthy adults aged 25-69 in rural Anyang, China. HPV infection status was evaluated with PCR-based sequencing. Participants with at least two consecutive valid HPV results within the study period were included in the incidence and clearance analysis...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938483/varying-susceptibility-of-the-female-mammary-gland-to-in-utero-windows-of-bpa-exposure
#3
Andrea R Hindman, Xiaokui Molly Mo, Hannah L Helber, Claire E Kovalchin, Nanditha Ravichandran, Alina R Murphy, Abigail M Fagan, Pamela M St John, Craig J Burd
In utero exposure to the endocrine disrupting compound bisphenol A (BPA) is known to disrupt mammary gland development and increase tumor susceptibility in rodents. It is unclear if there are different periods of in utero development that may be more susceptible to BPA exposure. Herein, pregnant CD-1 mice were exposed to BPA at different times during gestation that correspond to specific milestones of in utero mammary gland development. Mammary glands of early-life and adult female mice, exposed in utero to BPA, were morphologically and molecularly (ERα and Ki67) evaluated for developmental abnormalities...
August 9, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938396/transgenic-expression-of-the-vitamin-d-receptor-restricted-to-the-ileum-cecum-and-colon-of-vitamin-d-receptor-knockout-mice-rescues-vitamin-d-receptor-dependent-rickets
#4
Puneet Dhawan, Vaishali Veldurthy, Ghassan Yehia, Connie Hsaio, Angela Porta, Ki-In Kim, Nishant Patel, Liesbet Lieben, Lieve Verlinden, Geert Carmeliet, Sylvia Christakos
Although the intestine plays the major role in 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) action on calcium homeostasis, the mechanisms involved remain incompletely understood. The established model of 1,25(OH)2D3 regulated intestinal calcium absorption postulates a critical role for the duodenum. However it is the distal intestine where 70 -80% of the ingested calcium is absorbed. In order to test directly the role of 1,25(OH)2D3 and the vitamin D receptor (VDR) in the distal intestine, 3 independent knockout (KO) /transgenic (TG) lines expressing VDR exclusively in the ileum, cecum and colon were generated by breeding VDR KO mice with TG mice expressing human (h)VDR under the control of the 9...
September 11, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938321/the-pierre-robin-mandible-is-hypoplastic-and-morphologically-abnormal
#5
Elizabeth G Zellner, Russell R Reid, Derek M Steinbacher
BACKGROUND: For Pierre Robin sequence (PRS) patients, there is incomplete characterization of 3D differences and effects of mandibular distraction osteogenesis (MDO) on the mandible compared to normal controls. METHODS: PRS infants who underwent MDO at 2 craniofacial referral centerals with pre- and postoperative computed tomography (CT) scans were identified. A group of age-matched control patients with CTs were identified in the PACS database. Demographic and perioperative data were recorded...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28938317/postoperative-changes-in-isolated-medial-orbital-wall-fractures-based-on-computed-tomography
#6
Soyeon Jung, Jang Won Lee, Chung Hun Kim, Euna Hwang, Hyoseob Lim, Sung Won Jung, Sung Hoon Koh
The treatment has been improved on the accurate reduction of blow-out fracture for many decades. But still, it has been limited to reduce completely when surgeons are approaching by conventional technique. The authors analyzed the postoperative results using computed tomography (CT) scans after conventional open reduction of isolated medial wall fracture. Thirty-seven patients with isolated medial wall fracture were reviewed. All patients underwent preoperative, immediate, and postoperative CT scans. Two surgeons have performed the surgery by conventional open reduction with transcaruncular approach and absorbable mesh insertion...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28938079/comparing-climate-sensitivity-past-and-present
#7
Eelco J Rohling, Gianluca Marino, Gavin L Foster, Philip A Goodwin, Anna S von der Heydt, Peter Köhler
Climate sensitivity represents the global mean temperature change caused by changes in the radiative balance of climate; it is studied for both present/future (actuo) and past (paleo) climate variations, with the former based on instrumental records and/or various types of model simulations. Paleo-estimates are often considered informative for assessments of actuo-climate change caused by anthropogenic greenhouse forcing, but this utility remains debated because of concerns about the impacts of uncertainties, assumptions, and incomplete knowledge about controlling mechanisms in the dynamic climate system, with its multiple interacting feedbacks and their potential dependence on the climate background state...
September 22, 2017: Annual Review of Marine Science
https://www.readbyqxmd.com/read/28937790/the-doctor-of-philosophy-experience-of-athletic-trainers-facilitators-and-barriers-to-anticipatory-faculty-socialization
#8
Thomas Bowman, Joanne Klossner, Stephanie Mazerolle
CONTEXT:   It is important to understand the process whereby athletic trainers learn about their future roles, particularly when the roles can be complex and demanding. Little is known about the experiences of athletic training doctoral students, including facilitators and barriers to socialization as aspiring faculty members. OBJECTIVE:   To investigate factors influencing the anticipatory socialization of athletic training doctoral students into future faculty roles...
September 22, 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28937779/-changes-of-the-who-classification-of-lymphoid-neoplasms-in-the-context-of-the-2016-revision
#9
Tomáš Balhárek, Juraj Marcinek, Lukáš Plank
As a result of increasing knowledge, the validity of any tumour classification could not be unlimited. The aim of this article is to review the most important changes in the WHO classification of lymphoid neoplasms of a non-Hodgkin type that have been announced and published in relation to its revision in 2016. These changes are based on better understanding of pathogenesis and genetics of diseases, refine diagnostic criteria, reflect existence of rare forms and introduce new provisional categories of lymphoid neoplasms...
2017: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/28937325/revascularization-of-the-upper-posterior-circulation-with-the-anterior-temporal-artery-an-anatomical-feasibility-study
#10
Ali Tayebi Meybodi, Michael T Lawton, Dylan Griswold, Pooneh Mokhtari, Andre Payman, Halima Tabani, Sonia Yousef, Arnau Benet
OBJECTIVE In various disease processes, including unclippable aneurysms, a bypass to the upper posterior circulation (UPC) including the superior cerebellar artery (SCA) and posterior cerebral artery (PCA) may be needed. Various revascularization options exist, but the role of intracranial (IC) donors has not been scrutinized. The objective of this study was to evaluate the anatomical feasibility of utilizing the anterior temporal artery (ATA) for revascularization of the UPC. METHODS ATA-SCA and ATA-PCA bypasses were performed on 14 cadaver specimens...
September 22, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28936630/the-clinical-outcomes-and-risk-factors-associated-with-incomplete-endoscopic-resection-of-rectal-carcinoid-tumor
#11
Cheol Woong Choi, Su Bum Park, Dae Hwan Kang, Hyung Wook Kim, Su Jin Kim, Hyeong Seok Nam, Dae Gon Ryu
BACKGROUND AND AIM: The risk of lymph node metastasis of a small rectal carcinoid tumor (<10 mm) is known to be lower than that of tumors at other gastrointestinal sites. Although rectal carcinoid tumors can be treated by endoscopic resection, the resected specimen may be incomplete. The consequences of an incomplete resection are not well known. METHOD: From December 2008 to November 2015, cases of rectal carcinoid tumors resected by endoscopic resection techniques such as endoscopic submucosal dissection (ESD), or endoscopic mucosal resection using band ligation device (EMR-L), or cap aspiration (EMR-C) were enrolled...
September 21, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28936585/understanding-intestinal-glucose-transporter-expression-in-obese-compared-to-non-obese-subjects
#12
Rebecca A Deal, Yueming Tang, Reid Fletcher, Alfonso Torquati, Philip Omotosho
INTRODUCTION: The impact of Roux-en-Y gastric bypass (RYGB) on weight loss and co-morbid disease resolution is well established. However, the mechanisms underlying the procedure remain incompletely understood. Intestinal remodeling involving glucose transporters (GLUTs) may play a crucial role. Rat studies have demonstrated morphological adaptation of GLUTs within adipose and intestinal cells in association with the reprogramming of glucose metabolism. There is a limited understanding of the variations in expression amongst GLUT family receptors in the human intestine...
September 21, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28936583/effective-immunological-guidance-of-genetic-analyses-including-exome-sequencing-in-patients-evaluated-for-hemophagocytic-lymphohistiocytosis
#13
Sandra Ammann, Kai Lehmberg, Udo Zur Stadt, Christian Klemann, Sebastian F N Bode, Carsten Speckmann, Gritta Janka, Katharina Wustrau, Mirzokhid Rakhmanov, Ilka Fuchs, Hans C Hennies, Stephan Ehl
We report our experience in using flow cytometry-based immunological screening prospectively as a decision tool for the use of genetic studies in the diagnostic approach to patients with hemophagocytic lymphohistiocytosis (HLH). We restricted genetic analysis largely to patients with abnormal immunological screening, but included whole exome sequencing (WES) for those with normal findings upon Sanger sequencing. Among 290 children with suspected HLH analyzed between 2010 and 2014 (including 17 affected, but asymptomatic siblings), 87/162 patients with "full" HLH and 79/111 patients with "incomplete/atypical" HLH had normal immunological screening results...
September 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28935984/regulation-of-axonal-regeneration-by-the-level-of-function-of-the-endogenous-nogo-receptor-antagonist-lotus
#14
Tomoko Hirokawa, Yixiao Zou, Yuji Kurihara, Zhaoxin Jiang, Yusuke Sakakibara, Hiromu Ito, Kengo Funakoshi, Nobutaka Kawahara, Yoshio Goshima, Stephen M Strittmatter, Kohtaro Takei
Axonal regeneration in the adult mammalian central nervous system is limited in part by the non-permissive environment, including axonal growth inhibitors such as the Nogo-A protein. How the functions of these inhibitors can be blocked remains unclear. Here, we examined the role of LOTUS, an endogenous Nogo receptor antagonist, in promoting functional recovery and neural repair after spinal cord injury (SCI), as well as axonal regeneration after optic nerve crush. Wild-type untreated mice show incomplete but substantial intrinsic motor recovery after SCI...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28935694/cellular-kinetics-of-ctl019-in-relapsed-refractory-b-cell-acute-lymphoblastic-leukemia-and-chronic-lymphocytic-leukemia
#15
Karen Thudium Mueller, Shannon L Maude, David L Porter, Noelle Frey, Patricia Wood, Xia Han, Edward Waldron, Abhijit Chakraborty, Rakesh Awasthi, Bruce L Levine, J Joseph Melenhorst, Stephan A Grupp, Carl H June, Simon F Lacey
Tisagenlecleucel (CTL019) is an investigational immunotherapy that involves reprogramming a patient's own T cells with a transgene encoding a chimeric antigen receptor to identify and eliminate CD19-expressing cells. We previously reported that CTL019 achieved impressive clinical efficacy in patients with relapsed/refractory B-cell acute lymphoblastic leukemia (ALL) and chronic lymphocytic leukemia (CLL), including the expansion and persistence of CTL019 cells, which correlates with response to therapy. Here, we performed formal cellular kinetic analyses of CTL019 in a larger cohort of 103 patients treated with CTL019 in 2 different diseases (ALL and CLL)...
September 21, 2017: Blood
https://www.readbyqxmd.com/read/28935669/dna-binding-affinity-and-transcriptional-activity-of-the-rela-homodimer-of-nuclear-factor-kappa-b-are-not-correlated
#16
Maria Carmen Mulero, De-Bin Huang, H Thien Nguyen, Vivien Wang, Yidan Li, Tapan Biswas, Gourisankar Ghosh
The nuclear factor kappa B (NF-κB) transcription factor family regulates genes involved in cell proliferation and inflammation. The promoters of these genes often contain NF-κB binding sites (κB sites) arranged in tandem. How NF-κB activates transcription through these multiple sites is incompletely understood. We report here an X-ray crystal structure of homodimers comprising the RelA DNA binding domain containing the Rel homology region (RHR) in NF-κB bound to an E-selectin promoter fragment with tandem κB sites...
September 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28935153/load-dependent-effects-of-apelin-on-murine-cardiomyocytes
#17
Remi Peyronnet, Christian Bollensdorff, Rebecca A Capel, Eva A Rog-Zielinska, Christopher E Woods, David N Charo, Oleg Lookin, Giovanni Fajardo, Michael Ho, Thomas Quertermous, Euan A Ashley, Peter Kohl
The apelin peptide is described as one of the most potent inotropic agents, produced endogenously in a wide range of cells, including cardiomyocytes. Despite positive effects on cardiac contractility in multicellular preparations, as well as indications of cardio-protective actions in several diseases, its effects and mechanisms of action at the cellular level are incompletely understood. Here, we report apelin effects on dynamic mechanical characteristics of single ventricular cardiomyocytes, isolated from mouse models (control, apelin-deficient [Apelin-KO], apelin-receptor KO mouse [APJ-KO]), and rat...
September 18, 2017: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/28935076/fantom-bioresorbable-scaffold-verse-but-not-yet-chorus-an-incomplete-composition
#18
EDITORIAL
Stephen G Ellis
No abstract text is available yet for this article.
September 25, 2017: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28934247/the-extent-of-intrauterine-growth-restriction-determines-the-severity-of-cerebral-injury-and-neurobehavioural-deficits-in-rodents
#19
Crystal A Ruff, Stuart D Faulkner, Prakasham Rumajogee, Stephanie Beldick, Warren Foltz, Jennifer Corrigan, Alfred Basilious, Shangjun Jiang, Shanojan Thiyagalingam, Jerome Y Yager, Michael G Fehlings
BACKGROUND: Cerebral Palsy (CP) is the most common physical pediatric neurodevelopmental disorder and spastic diplegic injury is its most frequent subtype. CP results in substantial neuromotor and cognitive impairments that have significant socioeconomic impact. Despite this, its underlying pathophysiological mechanisms and etiology remain incompletely understood. Furthermore, there is a need for clinically relevant injury models, which a) reflect the heterogeneity of the condition and b) can be used to evaluate new translational therapies...
2017: PloS One
https://www.readbyqxmd.com/read/28934217/elevated-humoral-response-to-cytomegalovirus-in-hiv-infected-individuals-with-poor-cd4-t-cell-immune-recovery
#20
Elisabet Gómez-Mora, Marta Massanella, Elisabet García, David Giles, Marta Bernadó, Victor Urrea, Jorge Carrillo, Dan Ouchi, Jordi Puig, Eugenia Negredo, Bonaventura Clotet, Julià Blanco, Cecilia Cabrera
Some HIV-infected c-ART-suppressed individuals show incomplete CD4+ T-cell recovery, abnormal T-cell activation and higher mortality. One potential source of immune activation could be coinfection with cytomegalovirus (CMV). IgG and IgM levels, immune activation, inflammation and T-cell death in c-ART-suppressed individuals with CD4+ T-cell counts >350 cells/μL (immunoconcordant, n = 133) or <350 cells/μL (immunodiscordant, n = 95) were analyzed to evaluate the effect of CMV humoral response on immune recovery...
2017: PloS One
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