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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...
October 14, 2016: American Journal of Human Genetics
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
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
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
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
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
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
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
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
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
Clint Wooten, Brian Curtin
No abstract text is available yet for this article.
July 1, 2016: Orthopedics
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
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...
June 18, 2016: Journal of Oral and Maxillofacial Surgery
Ali Dalgic, Ali Erdem Yildirim, Onder Okay, Ozhan Uckun, Fatih Alagoz, Omer Polat, Rifat Akdag, Osman Nacar, Ergun Daglioglu, Deniz Belen
AIM: Failure of surgery for lumbar disc herniation (LDH) can be commonly caused by recurrence. There are many debates regarding the risk factors of recurrent LDH (rLDH) and it is very difficult to define them because many clinical and complicated biomechanical parameters are involved. The purpose of study was to evaluate the long term result of re-discectomy for LDH at the same level and adjacent segments. MATERIAL AND METHODS: Between 1999 and 2009, 1898 cases were operated and 142 (6...
2016: Turkish Neurosurgery
Bekki Lloyd
I support mandatory domestic abuse training for all healthcare workers (news, June 22). I attended an emergency department aft er my ex-partner had att acked me. No one asked if I was okay - it was more a case of clean me up, check for injuries and send me on my way. Clearly, the 6Cs were not implemented during my visit.
July 6, 2016: Nursing Standard
Aylin Eryilmaz, Yesim Basal, Ceren Gunel, Sema Basak, Mevlut Ture, Hakan Elatik, Okay Basak
Laryngopharyngeal reflux (LPR) is a type of reflux, seen with complaints of hoarseness, chronic cough, and globus sensation, different from gastroesophageal reflux disease (GERD). The aim of this study was to evaluate the awareness, knowledge, and practices of family physicians and trainees who were being trained in medical branches other than ENT and to determine the effective factors on decision making for diagnosis of this disorder. The study was designed as a two-stage study. At the first stage, a data collection tool, involving 29 questions by which the knowledge, awareness, and applications of the physicians about LPR would be determined, was developed with 12 specialists, using Delphi method...
July 4, 2016: European Archives of Oto-rhino-laryngology
Osman Tanriverdi, Abuzer Gungor, Mustafa Kemal Coban, Onder Okay, Umit Kamaci
Aim Spinal epidural hematomas are rare entity in neurosurgery practice. Most of them are spontaneous due to anticoagulant therapy and called spontaneous spinal epidural hematomas (SSEHs). Laminectomy or hemilaminectomy for affected levels is still the first choice in the operative treatment of an SSEH. We describe a new less invasive surgical technique, performing single-level laminectomy and washing with 0.9% sodium chloride through a thin soft catheter for a 12-level thoracic-cervical SSEH in a patient under anticoagulant therapy...
June 27, 2016: Journal of Neurological Surgery. Part A, Central European Neurosurgery
Bülent Erol, Tolga Onay, Osman M Topkar, Abbas Tokyay, Ahmet N Aydemir, Erhan Okay
Functional and radiographic outcomes, in addition to complication and reoperation rates of open curettage and grafting without instrumentation or with intramedullary nailing, in the treatment of simple bone cysts (SBCs) of the humerus were compared. Thirty-seven children [25 males, 12 females; median age=9.5 years (range, 3-17 years)] with humeral SBC were treated with curettage and grafting without instrumentation (group 1, 21 patients) or with intramedullary nailing (group 2, 16 patients). The pathological fracture rate was 85...
June 23, 2016: Journal of Pediatric Orthopedics. Part B
Suzette Eastabrook, Paul Chang, Myra F Taylor
Suntanning increases skin cancer risk and prematurely ages skin. Photoageing photography is an effective means of increasing adult ultraviolet radiation (UVR) awareness and skin-protection practices. While adults' largely positive suntanning-deterrence responses to photoageing photography are well-documented, comparatively little is known about the deterrence effectiveness of photoageing photography with adolescents. To help fill this knowledge gap, in-depth interviews were collected from 10 adolescent females and were subsequently subjected to interpretive phenomenological analysis...
June 22, 2016: Global Health Promotion
Bulent Erol, Mert Osman Topkar, Ahmet Nadir Aydemir, Erhan Okay, Emrah Caliskan, Omer Sofulu
PURPOSE: We aimed to develop a surgical treatment strategy for benign bone lesions of the proximal femur based upon retrospective review of our data in 62 children. METHODS: Sixty-two children [38 male, 24 female; median age 9 years (range 5-18 years)] with proximal femoral benign bone lesions were surgically treated between 2005 and 2013. Histopathological diagnoses were simple (31) or aneurysmal (27) bone cysts, and nonossifying fibromas (4). The pathological fracture rate was 77...
August 2016: Archives of Orthopaedic and Trauma Surgery
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