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https://www.readbyqxmd.com/read/28513613/defects-in-the-acid-phosphatase-acpt-cause-recessive-hypoplastic-amelogenesis-imperfecta
#1
Claire El Smith, Laura LE Whitehouse, James A Poulter, Steven J Brookes, Peter F Day, Francesca Soldani, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell
We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. ACPT is reported to play a role in odontoblast differentiation and mineralisation by supplying phosphate during dentine formation. Analysis by computerised tomography and scanning electron microscopy of a primary molar tooth from an individual homozygous for the c.746C>T variant revealed an enamel layer that was hypoplastic, but mineralised with prismatic architecture...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28507634/multi-system-complications-after-intravenous-cocaine-abuse
#2
Lidija Petkovska, Andon Chibishev, Aleksandra Stevcevska, Ivica Smokovski, Dusan Petkovski, Emilija Antova
BACKGROUND: Use and abuse of cocaine are associated with numerous adverse effects, independent of the route of administration. More severe conditions of poisoning, however, are observed after cocaine intravenous administration. AIM: We present a case of severe poisoning after violent intravenous injection of cocaine, but with a good outcome. CASE PRESENTATION: Cocaine was intravenously (i.v.) administered in 16-years old female patient as a homicide attempt...
April 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28497441/-cryptogenic-stroke-in-a-young-patient-with-heart-disease-and-kidney-failure
#3
B Oyanguren, R Segoviano, E Alegria, E Besada, M Gonzalez-Salaices, M Eimil-Ortiz, C Lopez de Silanes
INTRODUCTION: Fabry's disease is an infrequent metabolic pathology linked to the X chromosome which causes a wide variety of signs and symptoms. CASE REPORT: A 39-year-old male who was admitted to our stroke unit with right-side hemiparesis (1 + 0) and dysarthria (1). The score on the National Institute of Health Stroke Scale was 2. The patient presented angiokeratomas in both thighs. A computerised axial tomography scan of the head showed left thalamic acute infarction...
May 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28475998/refractory-focal-motor-seizures-controlled-with-intramuscular-botulinum-toxin
#4
Wei-I Lee, Patrick W Carney, Andrew J Hughes, John S Archer
Patients with recurrent focal motor seizures present a management dilemma, as anti-convulsants are often ineffective, and resective surgery poses a high risk of motor deficit. We describe three patients with recurrent focal motor seizures that remained refractory despite numerous anti-convulsant trials. All patients showed either hyperperfusion on Single-Photon Emission Computerised Tomography (SPECT) or hypermetabolism on Positron Emission Tomography (PET) in primary motor cortex during periods of sustained jerking, although EEG abnormalities were uncommon...
April 10, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28464835/streamlining-staging-of-lung-and-colorectal-cancer-with-whole-body-mri-study-protocols-for-two-multicentre-non-randomised-single-arm-prospective-diagnostic-accuracy-studies-streamline-c-and-streamline-l
#5
Stuart A Taylor, Sue Mallett, Anne Miles, Sandy Beare, Gauraang Bhatnagar, John Bridgewater, Rob Glynne-Jones, Vicky Goh, Ashley M Groves, Sam M Janes, Dow Mu Koh, Steve Morris, Alison Morton, Neal Navani, Alf Oliver, Anwar R Padhani, Shonit Punwani, Andrea G Rockall, Steve Halligan
BACKGROUND AND AIMS: Rapid and accurate cancer staging following diagnosis underpins patient management, in particular the identification of distant metastatic disease. Current staging guidelines recommend sequential deployment of various imaging platforms such as computerised tomography (CT) and positron emission tomography (PET) which can be time and resource intensive and onerous for patients. Recent studies demonstrate that whole body magnetic resonance Imaging (WB-MRI) may stage cancer efficiently in a single visit, with potentially greater accuracy than current staging investigations...
May 2, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28440286/size-and-shape-variations-of-the-bony-components-of-sperm-whale-cochleae
#6
Joseph G Schnitzler, Bruno Frédérich, Sven Früchtnicht, Tobias Schaffeld, Johannes Baltzer, Andreas Ruser, Ursula Siebert
Several mass strandings of sperm whales occurred in the North Sea during January and February 2016. Twelve animals were necropsied and sampled around 48 h after their discovery on German coasts of Schleswig Holstein. The present study aims to explore the morphological variation of the primary sensory organ of sperm whales, the left and right auditory system, using high-resolution computerised tomography imaging. We performed a quantitative analysis of size and shape of cochleae using landmark-based geometric morphometrics to reveal inter-individual anatomical variations...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28417258/in-vivo-facial-soft-tissue-depths-of-a-modern-adult-population-from-germany
#7
Nicolle Thiemann, Volker Keil, Uwe Roy
Forensic facial reconstruction may be the final option available to draw public attention in cases where the identity of an individual cannot be established by standard identification methods. Two fundamental components of all forensic facial reconstruction techniques are cranial morphology and soft tissue depth databases. The purpose of this study was to extend such databases by providing a complete set of accurate facial soft tissue thickness measurements, acquired from a contemporary adult population from Germany...
April 17, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28409743/pet-neck-a-multicentre-randomised-phase-iii-non-inferiority-trial-comparing-a-positron-emission-tomography-computerised-tomography-guided-watch-and-wait-policy-with-planned-neck-dissection-in-the-management-of-locally-advanced-n2-n3-nodal-metastases-in-patients
#8
Hisham Mehanna, Chris C McConkey, Joy K Rahman, Wai-Lup Wong, Alison F Smith, Chris Nutting, Andrew Gj Hartley, Peter Hall, Claire Hulme, Dharmesh K Patel, Sandra Ventorin von Zeidler, Max Robinson, Bal Sanghera, Lydia Fresco, Janet A Dunn
BACKGROUND: Planned neck dissection (ND) after radical chemoradiotherapy (CRT) for locally advanced nodal metastases in patients with head and neck squamous cell carcinoma (HNSCC) remains controversial. Thirty per cent of ND specimens show histological evidence of tumour. Consequently, a significant proportion of clinicians still practise planned ND. Fludeoxyglucose positron emission tomography (PET)-computerised tomography (CT) scanning demonstrated high negative predictive values for persistent nodal disease, providing a possible alternative paradigm to ND...
April 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28407334/time-to-cranial-computerised-tomography-for-acute-traumatic-brain-injury-in-paediatric-patients-effect-of-the-shorter-stays-in-emergency-departments-target-in-new-zealand
#9
Peter G Jones, Bridget Kool, Stuart Dalziel, Michael Shepherd, James Le Fevre, Alana Harper, Susan Wells, Joanna Stewart, Elana Curtis, Papaarangi Reid, Shanthi Ameratunga
AIM: Timely access to computerised tomography (CT) for acute traumatic brain injuries (TBIs) facilitates rapid diagnosis and surgical intervention. In 2009, New Zealand introduced a mandatory target for emergency department (ED) stay such that 95% of patients should leave ED within 6 h of arrival. This study investigated whether this target influenced the timeliness of cranial CT scanning in children who presented to ED with acute TBI. METHODS: We retrospectively reviewed a random sample of charts of children <15 years with acute TBI from 2006 to 2012...
April 13, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28390297/the-addition-of-whole-body-magnetic-resonance-imaging-to-body-computerised-tomography-alters-treatment-decisions-in-patients-with-metastatic-breast-cancer
#10
Michael Kosmin, Andreas Makris, Priya V Joshi, Mei-Lin Ah-See, David Woolf, Anwar R Padhani
AIM: Accurate evaluation of distribution of disease and response to systemic anti-cancer therapy (SACT) is important in the optimal management of metastatic breast cancer. Whole-body magnetic resonance imaging (WB-MRI) has increased accuracy over computerised tomography of the chest, abdomen and pelvis (CT-CAP) for detecting liver and bone disease, but its effect on patient management is largely unexplored. This study investigates the effects of using WB-MRI alongside CT-CAP on SACT decisions in standard clinical practice for patients with metastatic breast cancer...
April 5, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28385791/reader-training-for-the-re-staging-of-biochemically-recurrent-prostate-cancer-using-fluciclovine-18-f-pet-ct
#11
Matthew P Miller, Lale Kostakoglu, Daniel Pryma, Jian Qin Yu, Albert Chau, Eric Perlman, Bonnie Clarke, Donald Rosen, Penelope Ward
Fluciclovine ((18)F) is a novel positron emission tomography (PET)/computerised tomography (CT) tracer. This blinded image evaluation (BIE) sought to demonstrate that, after limited training, readers naïve to fluciclovine ((18)F), could interpret fluciclovine ((18)F) images from subjects with biochemical recurrent (BCR) prostate cancer with acceptable diagnostic performance and reproducibility. The primary objectives were to establish individual readers' diagnostic performance and the overall interpretation (2/3 reader concordance) compared to standard of truth (SOT) data (histopathology and/or clinical follow-up) and to evaluate inter-reader reproducibility...
April 6, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28365396/use-of-the-3d-surgical-modelling-technique-with-open-source-software-for-mandibular-fibula-free-flap-reconstruction-and-its-surgical-guides
#12
L Ganry, B Hersant, J Quilichini, P Leyder, J P Meningaud
INTRODUCTION: Tridimensional (3D) surgical modelling is a necessary step to create 3D-printed surgical tools, and expensive professional software is generally needed. Open-source software are functional, reliable, updated, may be downloaded for free and used to produce 3D models. Few surgical teams have used free solutions for mastering 3D surgical modelling for reconstructive surgery with osseous free flaps. We described an Open-source software 3D surgical modelling protocol to perform a fast and nearly free mandibular reconstruction with microvascular fibula free flap and its surgical guides, with no need for engineering support...
March 29, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28358979/pelvimetry-for-fetal-cephalic-presentations-at-or-near-term-for-deciding-on-mode-of-delivery
#13
REVIEW
Robert C Pattinson, Anna Cuthbert, Valerie Vannevel
BACKGROUND: Pelvimetry assesses the size of a woman's pelvis aiming to predict whether she will be able to give birth vaginally or not. This can be done by clinical examination, or by conventional X-rays, computerised tomography (CT) scanning, or magnetic resonance imaging (MRI). OBJECTIVES: To assess the effects of pelvimetry (performed antenatally or intrapartum) on the method of birth, on perinatal mortality and morbidity, and on maternal morbidity. This review concentrates exclusively on women whose fetuses have a cephalic presentation...
March 30, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28356884/predictive-value-of-carcinoembryonic-and-carbohydrate-antigen-19-9-related-to-some-clinical-endoscopic-and-histological-colorectal-cancer-characteristics
#14
Ratko Tomašević, Tomica Milosavljević, Dragoš Stojanović, Zoran Gluvić, Predrag Dugalić, Ivan Ilić, Radosav Vidaković
BACKGROUND: Colorectal cancer (CRC) is an important oncological and public health problem worldwide, including Serbia. Unfortunately, half of the patients are recognized in an advanced stage of the disease, therefore, early detection through specific tumor biomarkers, such as carcinoembryonic (CEA) and carbohydrate antigen 19-9 (CA 19-9), is the only way to cope with CRC expansion. METHODS: Our cross-sectional study evaluated the influence of some clinical, endoscopic and histological characteristics of CRC on CEA and CA 19-9 serum levels, to determine whether these biomarkers could be related to CRC detection...
September 2016: Journal of Medical Biochemistry
https://www.readbyqxmd.com/read/28345738/-exploring-the-dark-continent-medical-image-and-brain
#15
REVIEW
A Garcia-Molina, A Ensenat
INTRODUCTION: Until the late 19th century, direct observation of the central nervous system was practically impossible. The discovery of X-rays in 1895 and their subsequent application in the field of medicine brought about a shift of paradigm that completely revolutionised the way in which neurology was practised. The possibility of viewing the inside of the brain had a pronounced impact on clinical practice, and enriched the diagnosis and treatment of brain pathologies in a manner that was unimaginable up until then...
April 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28337234/is-computerised-tomography-better-than-fibreoptic-gastroscopy-for-early-detection-of-gastric-varices
#16
Burak Suvak, Murat Kekilli, Yavuz Beyazıt, Sarper Okten, Alpaslan Tanoglu, Nurgul Sasmaz
INTRODUCTION: Video endoscopic diagnosis of gastric varices is particularly limited, owing to the deep submucosal or subserosal location of the varices and the normal appearance of the overlying mucosa. AIM: We present and emphasise the value of computerised tomography (CT) examination in the early detection of gastric varices (GVs). MATERIAL AND METHODS: In this retrospective study, a total of 216 consecutive patients with cirrhosis were evaluated at the Turkiye Yuksek Ihtisas Training and Research Hospital between September 2008 and March 2011...
2017: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/28318729/acute-cerebellitis-in-paediatric-patients-our-experience
#17
J P García-Iñiguez, F J López-Pisón, P Madurga Revilla, I Montejo Gañán, M Domínguez Cajal, L Monge Galindo, S B Sánchez Marco, M C García Jiménez
INTRODUCTION: Acute cerebellitis is a rare inflammatory disease with a highly variable clinical course that ranges from benign self-limiting symptoms to a fulminant presentation associated with a high risk of death due to compression of the posterior fossa, acute hydrocephalus, and intracranial hypertension. METHODS: We reviewed clinical, laboratory, and radiological findings from children diagnosed with acute cerebellitis between May 2007 and November 2016. We analysed treatments and clinical and radiological progression...
March 15, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28315844/cerebral-glucose-metabolism-and-cognition-in-newly-diagnosed-parkinson-s-disease-icicle-pd-study
#18
M J Firbank, A J Yarnall, R A Lawson, G W Duncan, T K Khoo, G S Petrides, J T O'Brien, R A Barker, R J Maxwell, D J Brooks, D J Burn
OBJECTIVE: To assess reductions of cerebral glucose metabolism in Parkinson's disease (PD) with 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET), and their associations with cognitive decline. METHODS: FDG-PET was performed on a cohort of 79 patients with newly diagnosed PD (mean disease duration 8 months) and 20 unrelated controls. PD participants were scanned while on their usual dopaminergic medication. Cognitive testing was performed at baseline, and after 18 months using the Cognitive Drug Research (CDR) and Cambridge Neuropsychological Test Automated Battery (CANTAB) computerised batteries, the Mini-Mental State Examination (MMSE), and the Montreal Cognitive Assessment (MoCA)...
April 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28274672/the-role-of-screening-expectations-in-modifying-short-term-psychological-responses-to-low-dose-computed-tomography-lung-cancer-screening-among-high-risk-individuals
#19
Charlotte E Dunn, Adrian Edwards, Ben Carter, John K Field, Kate Brain, Kate J Lifford
OBJECTIVE: This study aimed to examine the relationship between pre-screening expectations and psychological responses to low-dose computerised tomography (LDCT) screening among high-risk individuals in the United Kingdom Lung Cancer Screening (UKLS) pilot trial. METHODS: Prior to screening, high-risk individuals randomised into the intervention arm of the UKLS were asked about their expected screening test result. Their actual LDCT scan result was compared with their baseline screening expectation to determine the level of congruence...
February 27, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28256425/comparison-of-99m-tc-mdp-spect-qualitative-vs-quantitative-results-in-patients-with-suspected-condylar-hyperplasia
#20
D F López Buitrago, J Ruiz Botero, C M Corral, A R Carmona, A Sabogal
OBJECTIVE: To compare qualitative vs quantitative results of Single Photon Emission Computerised Tomography (SPECT), calculated from percentage of (99m)Tc-MDP (methylene diphosphonate) uptake, in condyles of patients with a presumptive clinical diagnosis of condylar hyperplasia. MATERIALS AND METHOD: A retrospective, descriptive study was conducted on the (99m)Tc-MDP SPECT bone scintigraphy reports from 51 patients, with clinical impression of facial asymmetry related to condylar hyperplasia referred by their specialist in orthodontics or maxillofacial surgery, to a nuclear medicine department in order to take this type of test...
February 28, 2017: Revista Española de Medicina Nuclear e Imagen Molecular
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