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https://www.readbyqxmd.com/read/29456483/two-novel-pathogenic-mid1-variants-and-genotype-phenotype-correlation-reanalysis-in-x-linked-opitz-g-bbb-syndrome
#1
Nuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana M Fortuna, Rosário Santos, Arjan P M de Brouwer, Paula Jorge
X-linked Opitz G/BBB syndrome (XLOS) is a multisystemic congenital condition, caused by mutations in the midline-1 gene ( MID1 ), characterized by a large inter- and intrafamilial phenotypic variability and often associated with intellectual disability (ID). We report clinical, genetic, and molecular findings in 4 patients with typical XLOS dysmorphic features belonging to 2 unrelated families. Two novel pathogenic loss-of-function MID1 variants, a maternally inherited c.1656del and a de novo c.1215_1228dup, were identified...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29446444/extracorporeal-photopheresis-as-second-line-therapy-for-patients-with-acute-graft-versus-host-disease-does-the-number-of-cells-treated-matter
#2
Nina Worel, Elisabeth Lehner, Harald Führer, Peter Kalhs, Werner Rabitsch, Margit Mitterbauer, Georg Hopfinger, Hildegard T Greinix
BACKGROUND: Extracorporeal photopheresis (ECP) has demonstrated efficacy as second-line treatment for steroid-refractory (SR) acute graft-versus-host disease (aGVHD). The aim of our study was to analyze whether the amount of ECP-treated cells in patients with SR, aGVHD has an impact on response at 1 month. STUDY DESIGN AND METHODS: Data on white blood cells, lymphocytes, monocytes, mononuclear cells, and neutrophils, including absolute counts and counts per kilogram of body weight in ECP products from patients with aGVHD, were collected...
February 15, 2018: Transfusion
https://www.readbyqxmd.com/read/29432935/uric-acid-is-associated-with-long-term-adverse-cardiovascular-outcomes-in-patients-with-acute-coronary-syndrome-undergoing-percutaneous-coronary-intervention
#3
Maximilian Tscharre, Robert Herman, Miklos Rohla, Christina Hauser, Serdar Farhan, Matthias K Freynhofer, Kurt Huber, Thomas W Weiss
BACKGROUND AND AIMS: Evidence links uric acid (UA) with the promotion of cardiovascular disease. We assessed the prognostic value of UA on long-term major adverse outcomes (MACE) in patients with acute coronary syndrome (ACS), undergoing percutaneous coronary intervention (PCI). METHODS: As primary endpoint, we assessed the association of UA (continuous and dichotomized) with MACE, including cardiovascular death, myocardial infarction (MI) and stroke, using Cox regression and propensity matching...
February 9, 2018: Atherosclerosis
https://www.readbyqxmd.com/read/29427399/the-utility-of-bone-marrow-sampling-in-the-diagnosis-and-staging-of-lymphoma-in-south-africa
#4
L Phillips, J Opie
INTRODUCTION: The bone marrow biopsy (BMB) is a diagnostic and staging tool in lymphoma that remains practically useful and relevant in resource-constrained settings, despite restricted applications in international staging guidelines, which favour less invasive nuclear medicine techniques. METHODS: Retrospective laboratory data review of BMBs in adult lymphoma patients from 2005 to 2010 to determine subtypes, rates of bone marrow involvement (BMI), human immunodeficiency virus (HIV) seroprevalence and CD4 counts, trephine length and additional findings...
February 10, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29425478/postprandial-lipid-response-to-high-saturated-and-high-monounsaturated-fat-meals-in-normal-weight-or-overweight-women
#5
Lílian L Lopes, Daniela Mayumi U P Rocha, Alessandra da Silva, Maria do Carmo G Peluzio, Josefina Bressan, Helen Hermana M Hermsdorff
PURPOSE: We evaluated postprandial response of the lipid metabolism markers after the intake of a high-saturated fat (HSM) or high-monounsaturated fat meal (HMM). METHODS: A randomized, controlled and acute intervention study included 63 women (age 26.9 ± 6.1 years): 35 normal weight (NW) and 28 overweight (OW) (total body fat [TBF] 24.7 ± 3.9% and 36.6 ± 3.9%, respectively). After 12 hours of fasting, each subject was given one of the two test meals standardized, including 2 muffins and water (HSM, 42...
February 9, 2018: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/29405258/videolaryngoscopy-vs-macintosh-laryngoscopy-for-double-lumen-tube-intubation-in-thoracic-surgery-a-systematic-review-and-meta-analysis-trials
#6
REVIEW
T T Liu, L Li, L Wan, C H Zhang, W L Yao
Double-lumen intubation is more difficult than single-lumen tracheal intubation. Videolaryngoscopes have many advantages in airway management. However, the advantages of videolaryngoscopy for intubation with a double-lumen tube remain controversial compared with traditional Macintosh laryngoscopy. In this study, we searched MEDLINE, Embase, Cochrane Library and the Web of Science for randomised controlled trials comparing videolaryngoscopy with Macintosh laryngoscopy for double-lumen tube intubation. We found that videolaryngoscopy provided a higher success rate at first attempt for double-lumen tube intubation, with an odds ratio (95%CI) of 2...
February 6, 2018: Anaesthesia
https://www.readbyqxmd.com/read/29402157/alternative-approaches-to-surgical-hemostasis-in-patients-with-morbidly-adherent-placenta-undergoing-fertility-sparing-surgery
#7
Roman G Shmakov, Aleksandr A Vinitskiy, Vladimir D Chuprinin, Ekaterina L Yarotskaya, Gennady T Sukhikh
AIM: To evaluate the efficacy of different methods of surgical hemostasis, including the ligation of internal iliac arteries (IIA), temporary occlusion of the common iliac artery (CIA) and combined compression hemostasis, during cesarean section in patients with morbidly adherent placenta (MAP). MATERIALS AND METHODS: The study included 54 patients with MAP. All patients underwent cesarean section with application of surgical hemostasis techniques. In Group 1 (n = 15), ligation of IIA was performed, in Group 2 (n = 18) extravasal temporary occlusion of CIA, and in Group 3 (n = 21) combined compression hemostasis was applied...
February 5, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29400416/placental-mesenchymal-dysplasia-with-severe-fetal-growth-restriction-in-one-placenta-of-a-dichorionic-diamniotic-twin-pregnancy
#8
Shoko Jitsumori, Michihisa Shiro, Fumiyoshi Kojima, Nami Ota, Sawako Minami, Kazuhiko Ino
We report a rare case of placental mesenchymal dysplasia (PMD) with fetal growth restriction (FGR) in one placenta of a dichorionic diamniotic (DD) twin pregnancy. A 24-year-old woman was referred to our hospital at 24 weeks' gestation due to FGR and ipsilateral placental abnormality in DD twins. Ultrasound and magnetic resonance imaging showed one placenta of the FGR fetus was bulky and had multiple cysts, while the other fetus placenta appeared normal. Cesarean section was performed at 32 weeks' gestation; the first and second neonates weighted 1799 and 1215 g, respectively...
February 5, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29374777/single-cell-analysis-of-crohn-s-disease-patient-derived-small-intestinal-organoids-reveals-disease-activity-dependent-modification-of-stem-cell-properties
#9
Kohei Suzuki, Tatsuro Murano, Hiromichi Shimizu, Go Ito, Toru Nakata, Satoru Fujii, Fumiaki Ishibashi, Ami Kawamoto, Sho Anzai, Reiko Kuno, Konomi Kuwabara, Junichi Takahashi, Minami Hama, Sayaka Nagata, Yui Hiraguri, Kento Takenaka, Shiro Yui, Kiichiro Tsuchiya, Tetsuya Nakamura, Kazuo Ohtsuka, Mamoru Watanabe, Ryuichi Okamoto
BACKGROUND: Intestinal stem cells (ISCs) play indispensable roles in the maintenance of homeostasis, and also in the regeneration of the damaged intestinal epithelia. However, whether the inflammatory environment of Crohn's disease (CD) affects properties of resident small intestinal stem cells remain uncertain. METHODS: CD patient-derived small intestinal organoids were established from enteroscopic biopsy specimens taken from active lesions (aCD-SIO), or from mucosa under remission (rCD-SIO)...
January 27, 2018: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29366679/the-combination-of-an-hdac6-inhibitor-and-a-somatostatin-receptor-agonist-synergistically-reduces-hepato-renal-cystogenesis-in-an-animal-model-of-polycystic-liver-disease
#10
Maria Lorenzo Pisarello, Tatyana V Masyuk, Sergio A Gradilone, Anatoliy I Masyuk, Jingyi Francess Ding, Pui-Yuen Lee, Nicholas F LaRusso
Hepatic cystogenesis in polycystic liver disease (PLD) is associated with abnormalities in multiple cellular processes, including elevated cAMP and over-expression of histone deacetylase 6 (HDAC6). Disease progression in PCK rats (an animal model of PLD) is attenuated by inhibition of either cAMP production or HDAC6. Therefore, we hypothesized that concurrent targeting of HDAC6 and cAMP would synergistically reduce cyst growth. Changes in hepato-renal cystogenesis were examined in PCK rats treated with: i) a pan-HDAC inhibitor, panobinostat; ii) three specific HDAC6 inhibitors, ACY-1215, ACY-738, and ACY-241; and iii) a combination of ACY-1215 and the somatostatin receptor analog, pasireotide...
January 20, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29356353/effect-of-the-prevent-alcohol-and-risk-related-trauma-in-youth-p-a-r-t-y-program-among-senior-school-students
#11
Anna Gunn, Janet McLeod, Rebecca Chapman, Hayley Ball, Mark Fitzgerald, Teresa Howard, Peter Cameron, Biswadev Mitra
OBJECTIVE: The Prevent Alcohol and Risk-Related Trauma in Youth (P.A.R.T.Y.) Program at The Alfred uses vivid clinical reality to build resilience and prevent injury by following a trauma patient's journey through hospital. The present study aims to analyse the effect of P.A.R.T.Y. on safety perceptions of driving after alcohol, seat belt use and risk-taking activities. METHODS: Pre-programme, immediately post-programme and 3-5 months post-programme surveys with questions focused on the programme aims were distributed to all consented participants...
January 21, 2018: Emergency Medicine Australasia: EMA
https://www.readbyqxmd.com/read/29298626/systemic-anticancer-therapy-in-the-last-30-days-of-life-retrospective-audit-from-an-australian-regional-cancer-centre
#12
Peter J Gilbar, Ian McPherson, Genevieve G Aisthorpe, Srinivas Kondalsamy-Chennakes
Background Cessation of chemotherapy at an appropriate time is an important component of good quality palliative care. Published studies looking at administration of chemotherapy at the end of life vary widely. Objective To retrospectively determine the rate of death occurring within 14 and 30 days of chemotherapy and use this to benchmark against other cancer centres as a quality of care measure. Method All adult patients who received systemic anticancer therapy for solid tumours and haematological malignancies at an Australian Regional Cancer Centre between 2011 and 2015 were included...
January 1, 2018: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/29289940/prevalence-of-mental-ill-health-traumas-and-postmigration-stress-among-refugees-from-syria-resettled-in-sweden-after-2011-a-population-based-survey
#13
Petter Tinghög, Andreas Malm, Charlotta Arwidson, Erika Sigvardsdotter, Andreas Lundin, Fredrik Saboonchi
OBJECTIVES: To estimate the prevalence of and associations between anxiety, depression, post-traumatic stress disorder (PTSD), low subjective well-being (SWB), potential traumas and postmigration stress among refugees from Syria resettled in Sweden. DESIGN: A cross-sectional and population-based questionnaire study based on a known and complete sample frame. The survey included multiple measures of mental ill health and factors of particular relevance for refugees...
December 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/29259356/in-vitro-fracture-resistance-of-composite-resin-veneered-zirconia-crowns
#14
Chaimongkon Peampring, Juthatip Aksornmuang, Sasiwimol Sanohkan
Aims: The aim of this study is to investigate the fracture load to failure and damage mode of the composite resin-veneered zirconia crowns preparing with two different zirconia surface treatments compared conventional porcelain-veneered zirconia crowns. Materials and Methods: Metallic molar-shape dies prepared with 10° convergence angle a 1.5 mm deep chamfer finish line were used. Two groups of composite-resin-veneered zirconia crowns were prepared using different surface treatment (Group A - sandblasting and Group B - glaze-on technique)...
July 2017: Journal of Conservative Dentistry: JCD
https://www.readbyqxmd.com/read/29225426/incidence-and-predictors-of-total-knee-arthroplasty-following-knee-arthroscopy
#15
Tristan Camus, Jiho Han, Feroz Osmani, Norman Scott, William J Long
Objective: The purpose of this study was to determine the effectiveness of knee arthroscopy (KA) in patients with symptomatic meniscal tears or mechanical symptoms and OA, by using conversion to TKA as a final outcome measure. Methods: Retrospective review of all patients with OA who underwent KA in our practice. Results: 1215 KAs were reviewed; 3.9% underwent conversion to TKA at an average of 3.2 years. Conclusion: KA plays a role in delaying TKA in knees with meniscal tears and mechanical symptoms with concurrent OA...
March 2018: Journal of Orthopaedics
https://www.readbyqxmd.com/read/29203661/unusual-zinc-binding-mode-of-hdac6-selective-hydroxamate-inhibitors
#16
Nicholas J Porter, Adaickapillai Mahendran, Ronald Breslow, David W Christianson
Histone deacetylases (HDACs) regulate myriad cellular processes by catalyzing the hydrolysis of acetyl-l-lysine residues in histone and nonhistone proteins. The Zn2+-dependent class IIb enzyme HDAC6 regulates microtubule function by deacetylating α-tubulin, which suppresses microtubule dynamics and leads to cell cycle arrest and apoptosis. Accordingly, HDAC6 is a target for the development of selective inhibitors that might be useful in new therapeutic approaches for the treatment of cancer, neurodegenerative diseases, and other disorders...
December 4, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29168549/first-polish-analysis-of-the-treatment-of-advanced-heart-failure-in-children-with-the-use-of-berlinheart-excor-mechanical-circulatory-support
#17
Szymon Pawlak, Roman Przybylski, Janusz Skalski, Joanna Śliwka, Andrzej Kansy, Adam Grzybowski, Arkadiusz Wierzyk, Jacek Białkowski, Bohdan Maruszewski, Marian Zembala
BACKGROUND: The treatment of advanced heart failure (HF) in children and infants poses a serious management problem. Heart failure in that patient group is usually of congenital aetiology. The treatment schedules for paediatric patients are in most cases adapted from the guidelines for treatment of adults. Up to 2009, the treatment of that extremely difficult group of patients was limited to pharmacological therapy and occasional heart transplantations. Constantly increasing problems with recruiting donors, especially for the paediatric group, contribute to the fact that mechanical support with the use of ventricular assist devices is for many children the only chance of surviving the period of waiting for a heart donor...
2018: Kardiologia Polska
https://www.readbyqxmd.com/read/29155446/the-china-plant-trait-database-towards-a-comprehensive-regional-compilation-of-functional-traits-for-land-plants
#18
Han Wang, Sandy P Harrison, I Colin Prentice, Yanzheng Yang, Fan Bai, Henrique Furstenau Togashi, Meng Wang, Shuangxi Zhou, Jian Ni
Plant functional traits provide information about adaptations to climate and environmental conditions, and can be used to explore the existence of alternative plant strategies within ecosystems. Trait data are also increasingly being used to provide parameter estimates for vegetation models. Here we present a new database of plant functional traits from China. Most global climate and vegetation types can be found in China, and thus the database is relevant for global modelling. The China Plant Trait Database contains information on morphometric, physical, chemical and photosynthetic traits from 122 sites spanning the range from boreal to tropical, and from deserts and steppes through woodlands and forests, including montane vegetation...
November 20, 2017: Ecology
https://www.readbyqxmd.com/read/29137301/antitumor-efficacy-of-triple-monoclonal-antibody-inhibition-of-epidermal-growth-factor-receptor-egfr-with-mm151-in-egfr-dependent-and-in-cetuximab-resistant-human-colorectal-cancer-cells
#19
Stefania Napolitano, Giulia Martini, Erika Martinelli, Carminia Maria Della Corte, Floriana Morgillo, Valentina Belli, Claudia Cardone, Nunzia Matrone, Fortunato Ciardiello, Teresa Troiani
Purpose: We investigated the effect of triple monoclonal antibody inhibition of EGFR to overcome acquired resistance to first generation of anti-EGFR inhibitors. Experimental design: MM151 is a mixture of three different monoclonal IgG1 antibodies directed toward three different, non-overlapping, epitopes of the EGFR. We performed an in vivo study by using human CRC cell lines (SW48, LIM 1215 and CACO2) which are sensitive to EGFR inhibitors, in order to evaluate the activity of MM151 as compared to standard anti-EGFR mAbs, such as cetuximab, as single agent or in a sequential strategy of combination MM151 with irinotecan (induction therapy) followed by MM151 with a selective MEK1/2 inhibitor (MEKi) (maintenance therapy)...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29130399/recent-trends-in-publications-of-us-vascular-surgery-program-directors
#20
Afsha Aurshina, Anil Hingorani, Amrit Hingorani, Ayisha Zainab, Natalie Marks, Sheila Blumberg, Enrico Ascher
Objective In order to examine the academic productivity of US vascular surgery program directors, the number of vascular publications listed in PubMed from 2001 to 2015 for US vascular surgery program directors was reviewed. We suggest that this can be used as a benchmark for academic productivity. Methods The names of the program directors were taken from the Accreditation Council for Graduate Medical Education (ACGME) website at two time points: December 2009 (Independent Programs) and December 2015 (Independent + Integrated)...
January 1, 2017: Vascular
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