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https://www.readbyqxmd.com/read/27912058/impaired-amino-acid-transport-at-the-blood-brain-barrier-is-a-cause-of-autism-spectrum-disorder
#1
Dora C Tărlungeanu, Elena Deliu, Christoph P Dotter, Majdi Kara, Philipp Christoph Janiesch, Mariafrancesca Scalise, Michele Galluccio, Mateja Tesulov, Emanuela Morelli, Fatma Mujgan Sonmez, Kaya Bilguvar, Ryuichi Ohgaki, Yoshikatsu Kanai, Anide Johansen, Seham Esharif, Tawfeg Ben-Omran, Meral Topcu, Avner Schlessinger, Cesare Indiveri, Kent E Duncan, Ahmet Okay Caglayan, Murat Gunel, Joseph G Gleeson, Gaia Novarino
Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation, and severe neurological abnormalities...
December 1, 2016: Cell
https://www.readbyqxmd.com/read/27897748/cheating-is-never-okay-but-we-shouldn-t-be-too-quick-to-judge
#2
(no author information available yet)
It is easy to rush to judgement about students who cheat in their exams or buy essays on the internet. Such activities can never be condoned and those who succumb to temptation must suffer the consequences, which can involve being removed from their courses.
November 16, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27861040/is-it-okay-to-record-presentations
#3
Marc Cornock
It is becoming increasingly common to record presentations on mobile devices. I was giving a presentation in Germany recently and almost half the audience seemed to be taking photos or recording it.
November 2, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27845222/reversibility-of-strain-stiffening-in-silk-fibroin-gels
#4
Zeynep Oztoprak, Oguz Okay
We investigate the linear and nonlinear viscoelastic properties as well as the reversibility of strain-stiffening behavior of silk fibroin gels. The gels are prepared from 4.2w/v% fibroin solution in the presence of butanediol diglycidyl ether and N,N,N',N'-tetramethylethylenediamine (TEMED) as a cross-linker and catalyst, respectively. By changing the concentration of TEMED in the gelation system, fibroin gels exhibiting a storage modulus G' between 10(-1)-10(5)Pa and a loss factor tan δ between 10(-2) and 10° could be obtained...
November 12, 2016: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/27843749/mortality-markers-in-nosocomial-klebsiella-pneumoniae-bloodstream-infection
#5
Bulent Durdu, Ismail Necati Hakyemez, Sibel Bolukcu, Gulay Okay, Bilge Gultepe, Turan Aslan
PURPOSE: Klebsiella pneumoniae is the most common endogen agent for nosocomial infections. In this study, mortality markers were investigated in patients with nosocomial K. pneumoniae blood stream infection (NKp BSI). METHODS: The characteristics of patients >16 years who had NKp BSI diagnosis by daily active surveillance between January 2012 and January 2016 were retrospectively evaluated. Patients who died until 28th day of the clinical follow up and those who survived until this time were statistically compared in terms of various risk factors...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27843017/numerical-evaluation-of-bioaccumulation-and-depuration-kinetics-of-pahs-in-mytilus-galloprovincialis
#6
S D Yakan, A Focks, J Klasmeier, O S Okay
Polycyclic aromatic hydrocarbons (PAHs) are important organic pollutants in the aquatic environment due to their persistence and bioaccumulation potential both in organisms and in sediments. Benzo(a)anthracene (BaA) and phenanthrene (PHE), which are in the priority pollutant list of the U.S. EPA (Environmental Protection Agency), are selected as model compounds of the present study. Bioaccumulation and depuration experiments with local Mediterranean mussel species, Mytilus galloprovincialis were used as the basis of the study...
November 11, 2016: Environmental Pollution
https://www.readbyqxmd.com/read/27784681/h-oh-h-oh-h-oh-a-holiday-perspective-focus-on-mouse-slc4a11-expressed-in-xenopus-oocytes
#7
Keith Nehrke
Okay, there's no abstract necessary for this.
October 26, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/27773428/biallelic-mutations-in-tmtc3-encoding-a-transmembrane-and-tpr-containing-protein-lead-to-cobblestone-lissencephaly
#8
Julie Jerber, Maha S Zaki, Jumana Y Al-Aama, Rasim Ozgur Rosti, Tawfeg Ben-Omran, Esra Dikoglu, Jennifer L Silhavy, Caner Caglar, Damir Musaev, Beate Albrecht, Kevin P Campbell, Tobias Willer, Mariam Almuriekhi, Ahmet Okay Çağlayan, Jiri Vajsar, Kaya Bilgüvar, Gonul Ogur, Rami Abou Jamra, Murat Günel, Joseph G Gleeson
Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain and eye anomalies and range from Walker-Warburg syndrome to Fukuyama congenital muscular dystrophy. Each of these conditions has been associated with alpha-dystroglycan defects or with mutations in genes encoding basement membrane components, which are known to interact with alpha-dystroglycan...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27759753/improving-acute-care-for-adolescents-and-young-adults-on-medical-admission-units-the-interventions-that-matter
#9
C A Whicher, R Shah, H Gleeson, L Vaughan, L Albon
It had become a familiar routine. My seventh admission with diabetic ketoacidosis (DKA) in a year. Each time I was admitted it was the same; a DKA protocol, a diabetes specialist nurse visit, and a few questions from the doctors checking if "everything is okay?" On each admission, I would be discharged home after a couple of days. We all knew I'd be back again within a month or two.
2016: Acute Medicine
https://www.readbyqxmd.com/read/27668028/urethroscrotal-fistula-a-rare-cause-of-scrotal-swelling
#10
Selcuk Parlak, Aysun E Okay
BACKGROUND: Urethroscrotal fistula (USF) is an abnormal communication between the urethra and the scrotum. This rare abnormality may be iatrogenic or secondary to perforation of the urethra by a stone. After the passage of urine to the scrotum through the fistula, painless scrotal swelling develops, which disappears completely with manual compression, and voiding can be maintained in this way. Retrograde urethrography (RU) and voiding cystourethrography (VCU) are traditional diagnostic methods, but they have limitations, such as technical difficulties and inability to evaluate the surrounding tissues...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27636233/treatment-experiences-of-child-sexual-offenders-in-norway-a-qualitative-study
#11
Elvira S N Cooper, Helge Holgersen
This article is an attempt at gaining a better understanding of treatment of adults who have committed sexual offenses against children. In this study we aimed to explore what people who have committed sexual offenses against children find useful in therapy. The study was approached using qualitative methodology, and information was collected through semistructured interviews. Four male child sexual offenders were recruited from the Institute of Clinical Sexology and Therapy in Oslo, Norway. The informants were interviewed with a focus on what factors they found useful in therapy...
September 16, 2016: Journal of Child Sexual Abuse
https://www.readbyqxmd.com/read/27616480/mutations-in-mboat7-encoding-lysophosphatidylinositol-acyltransferase-i-lead-to-intellectual-disability-accompanied-by-epilepsy-and-autistic-features
#12
Anide Johansen, Rasim O Rosti, Damir Musaev, Evan Sticca, Ricardo Harripaul, Maha Zaki, Ahmet Okay Çağlayan, Matloob Azam, Tipu Sultan, Tawfiq Froukh, André Reis, Bernt Popp, Iltaf Ahmed, Peter John, Muhammad Ayub, Tawfeg Ben-Omran, John B Vincent, Joseph G Gleeson, Rami Abou Jamra
The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysophosphatidylinositol acyltransferase (LPIAT1). Subjects presented with ID frequently accompanied by epilepsy and autistic features. LPIAT1 is a membrane-bound phospholipid-remodeling enzyme that transfers arachidonic acid (AA) to lysophosphatidylinositol to produce AA-containing phosphatidylinositol...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27598726/stressors-alter-intercellular-communication-and-exosome-profile-of-nasopharyngeal-carcinoma-cells
#13
Maria Harmati, Zsofia Tarnai, Gabor Decsi, Sandor Kormondi, Zsolt Szegletes, Laszlo Janovak, Imre Dekany, Okay Saydam, Edina Gyukity-Sebestyen, Gabriella Dobra, Istvan Nagy, Katalin Nagy, Krisztina Buzas
BACKGROUND: Head and neck cancers comprise the sixth most common cancer type worldwide. One of the most remarkable malignancies of the head and neck is the cancer of the nasopharynx, with a strong metastatic tendency already in the early stage. Besides the conventional pathways of metastasis formation, the information content of exosomes produced by the cancer cells may play a key role in metastatic transformation. The aim of this study was to investigate how stressors alter the characteristic of tumor derived exosomes...
September 6, 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27578276/patient-satisfaction-with-the-clinical-pharmacist-and-prescribers-during-hepatitis-c-virus-management
#14
M T Martin, D M Faber
WHAT IS KNOWN AND OBJECTIVES: Clinical pharmacists play an important role in the management of patients undergoing hepatitis C virus (HCV) treatment. No satisfaction surveys have been published on clinical pharmacist interventions in HCV management. The objective was to evaluate patient satisfaction with clinical pharmacist and prescriber services in the HCV patient population at an urban academic hepatology clinic. METHODS: An anonymous patient satisfaction survey was offered to patients who were initiating or receiving HCV treatment under the care of a clinical pharmacist...
August 31, 2016: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/27546080/development-of-dose-volume-histogram-analysis-program-and-its-clinical-implementation
#15
Yumiko Adachi, Naoki Hayashi, Ryuichi Yada, Masashi Nozue, Shoichi Yamamoto
Dose volume histogram (DVH) is one of the methods for evaluating the feasibility of radiotherapy plans. It is difficult to thoroughly comprehend an evaluation of each plan at a glance and to give a concise presentation of the case at conference. In this study, we provide a useful program that will fulfill such a purpose on a clinical setting. We have revised our protocols of radiotherapy planning, developed the program using Visual Basic 2010, which could facilitate an evaluation of DVH, and used it for checking plans and presentation at case conference...
August 2016: Nihon Hoshasen Gijutsu Gakkai Zasshi
https://www.readbyqxmd.com/read/27538738/palato-maxillary-reconstruction-by-the-angular-branch-based-tip-of-scapula-free-flap
#16
Cesare Piazza, Alberto Paderno, Francesca Del Bon, Valentina Taglietti, Alberto Grammatica, Nausica Montalto, Piero Nicolai
The angular branch (AB)-based tip of scapula free flap is a valuable reconstructive option in palato-maxillary defects needing significant structural support. We herein retrospectively evaluate our surgical series with special focus on functional outcomes and postoperative morbidity. Ninety-seven consecutive palatomaxillary oncologic resections were performed at our institution between August 2008 and November 2015. The analysis focused on those reconstructed by an AB-based tip of scapula free flap (N = 18; 19 %)...
August 18, 2016: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27453578/biallelic-mutations-in-citron-kinase-link-mitotic-cytokinesis-to-human-primary-microcephaly
#17
Hongda Li, Stephanie L Bielas, Maha S Zaki, Samira Ismail, Dorit Farfara, Kyongmi Um, Rasim O Rosti, Eric C Scott, Shu Tu, Neil C Chi, Stacey Gabriel, Emine Z Erson-Omay, A Gulhan Ercan-Sencicek, Katsuhito Yasuno, Ahmet Okay Çağlayan, Hande Kaymakçalan, Barış Ekici, Kaya Bilguvar, Murat Gunel, Joseph G Gleeson
Cell division terminates with cytokinesis and cellular separation. Autosomal-recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a reduction in brain and head size at birth in addition to non-progressive intellectual disability. MCPH is genetically heterogeneous, and 16 loci are known to be associated with loss-of-function mutations predominantly affecting centrosomal-associated proteins, but the multiple roles of centrosomes in cellular function has left questions about etiology...
August 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27434887/morbid-obesity-and-total-joint-replacement-is-it-okay-to-say-no
#18
EDITORIAL
Clint Wooten, Brian Curtin
No abstract text is available yet for this article.
July 1, 2016: Orthopedics
https://www.readbyqxmd.com/read/27410916/bartonella-henselae-as-a-putative-cause-of-congenital-cholestasis
#19
Paulo Eduardo Neves Ferreira Velho, Maria Ângela Bellomo-Brandão, Marina Rovani Drummond, Renata Ferreira Magalhães, Gabriel Hessel, Maria de Lourdes Barjas-Castro, Cecília Amélia Fazzio Escanhoela, Gilda Maria Barbaro Del Negro, Thelma Suely Okay
Severe anemia and cholestatic hepatitis are associated with bartonella infections. A putative vertical Bartonella henselae infection was defined on the basis of ultrastructural and molecular analyses in a three-year-old child with anemia, jaundice and hepatosplenomegaly since birth. Physicians should consider bartonellosis in patients with anemia and hepatitis of unknown origin.
July 11, 2016: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/27400143/worldwide-10-year-systematic-review-of-treatment-trends-in-fibula-free-flap-for-mandibular-reconstruction
#20
REVIEW
Devin Okay, Al Haitham Al Shetawi, Sami P Moubayed, Moustafa Mourad, Daniel Buchbinder, Mark L Urken
PURPOSE: The purpose of this study was to describe the trends pertaining to the use of the fibula free flap for mandibular reconstruction during the past 10 years. MATERIALS AND METHODS: A systematic review for publications on the fibula free flap in mandibular reconstruction in the PubMed and Scopus databases was performed from January 1, 2005 until December 31, 2014. Publications were classified by topic, number of patients, and country of origin. The study period was split into 2 periods...
December 2016: Journal of Oral and Maxillofacial Surgery
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