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https://www.readbyqxmd.com/read/29625577/gene-therapy-in-rare-diseases-the-benefits-and-challenges-of-developing-a-patient-centric-registry-for-strimvelis-in-ada-scid
#1
Heide Stirnadel-Farrant, Mahesh Kudari, Nadia Garman, Jessica Imrie, Bikramjit Chopra, Stefania Giannelli, Michela Gabaldo, Ambra Corti, Stefano Zancan, Alessandro Aiuti, Maria Pia Cicalese, Rohit Batta, Jonathan Appleby, Mario Davinelli, Pauline Ng
BACKGROUND: Strimvelis (autologous CD34+ cells transduced to express adenosine deaminase [ADA]) is the first ex vivo stem cell gene therapy approved by the European Medicines Agency (EMA), indicated as a single treatment for patients with ADA-severe combined immunodeficiency (ADA-SCID) who lack a suitable matched related bone marrow donor. Existing primary immunodeficiency registries are tailored to transplantation outcomes and do not capture the breadth of safety and efficacy endpoints required by the EMA for the long-term monitoring of gene therapies...
April 6, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29625568/consensus-clinical-management-guidelines-for-niemann-pick-disease-type-c
#2
REVIEW
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A Jones, Daniel Ory, Bruno Bembi, Marc Patterson
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy...
April 6, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29608672/-it-opened-my-eyes-examining-the-impact-of-a-multifaceted-chlamydia-testing-intervention-on-general-practitioners-using-normalization-process-theory
#3
Anna Yeung, Jane Hocking, Rebecca Guy, Christopher K Fairley, Kirsty Smith, Alaina Vaisey, Basil Donovan, John Imrie, Jane Gunn, Meredith Temple-Smith
Background: Chlamydia is the most common notifiable sexually transmissible infection in Australia. Left untreated, it can develop into pelvic inflammatory disease and infertility. The majority of notifications come from general practice and it is ideally situated to test young Australians. Objectives: The Australian Chlamydia Control Effectiveness Pilot (ACCEPt) was a multifaceted intervention that aimed to reduce chlamydia prevalence by increasing testing in 16- to 29-year-olds attending general practice...
March 28, 2018: Family Practice
https://www.readbyqxmd.com/read/29552681/spontaneous-chirality-through-mixing-achiral-components-a-twist-bend-nematic-phase-driven-by-hydrogen-bonding-between-unlike-components
#4
R Walker, D Pociecha, J P Abberley, A Martinez-Felipe, D A Paterson, E Forsyth, G B Lawrence, P A Henderson, J M D Storey, E Gorecka, C T Imrie
The spontaneous formation of a chiral phase via molecular recognition in a system consisting of achiral components is reported. Specifically, the liquid crystalline behaviour of two molecular complexes assembled by hydrogen bonding between a stilbazole-based template and alkoxybenzoic acids has been characterised. The complexes exhibit the heliconical twist-bend nematic phase (NTB) over a broad temperature range despite the hydrogen-bond acceptor not being liquid crystalline and the donor exhibiting the conventional achiral nematic phase...
March 19, 2018: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/29534420/-implement-of-multimodal-navigation-based-virtual-reality-in-the-needle-biopsy-of-intracranial-eloquent-lesions
#5
J S Zhang, L Qu, Q Wang, Q P Gui, Y Z Hou, G C Sun, F Y Li, Z Z Zhang, X L Chen, J Zhang, Z H Sun, X G Yu, B N Xu
Objective: To investigate the clinical value of multimodal navigation-based virtual reality (MNVR) in the needle biopsy of intracranial eloquent lesions. Methods: From January 2016 to January 2017, 20 patients with intracranial deep-seated lesions involving eloquent brain areas underwent MNVR-aided needle biopsy at Department of Neurosurgery, People's Liberation Army General Hospital. Preoperatively, MNVR was used to propose and revise the biopsy planning. Intraoperatively, navigation helped trajectory avoid the eloquent structures...
March 1, 2018: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/29516956/use-of-simultaneous-radiation-boost-achieves-high-treatment-response-rate-in-patients-with-metastatic-gastric-cancer
#6
Ju Yang, Juan Liu, Shanbao Gao, Yang Yang, Weiwei Kong, Wei Ren, Lijing Zhu, Mi Yang, Jia Wei, Zhengyun Zou, Xiaoping Qian, Baorui Liu, Jing Yan
Objective: Intensity-modulated radiation therapy (IMRT) with a simultaneous integrated boost (SIB) could improve local control rates at different anatomic sites. However, little is known for its use in metastatic gastric cancer. Our study aimed to compare the treatment response rates of IMRI-SIB and conformal radiotherapy (CRT) in patients with metastatic gastric cancer. Materials and Methods: We retrospectively identified twenty patients with metastatic gastric cancer from 2013 to 2015, 12 given IMRT-SIB, and eight given CRT...
January 2018: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/29501136/rapid-and-robust-analytical-protocol-for-e-coli-stec-bacteria-subspecies-differentiation-using-whole-cell-maldi-mass-spectrometry
#7
Kevin Mclean, Javier Palarea-Albaladejo, Carol G Currie, Lisa H J Imrie, Erin D T Manson, Douglas Fraser-Pitt, Frank Wright, Colin J Alexander, Kevin G J Pollock, Lesley Allison, Mary Hanson, David G E Smith
Whole cell MALDI is regularly used for the identification of bacteria to species level in clinical Microbiology laboratories. However, there remains a need to rapidly characterize and differentiate isolates below the species level to support outbreak management. We describe the implementation of a modified preparative approach for MALDI-MS combined with a custom analytical computational pipeline as a rapid procedure for subtyping Shigatoxigenic E. coli (STEC) and accurately identifying strain-specifying biomarkers...
May 15, 2018: Talanta
https://www.readbyqxmd.com/read/29495014/venous-thromboembolism-during-interventional-mri-guided-stereotactic-surgery
#8
Adam J Kundishora, Dario J Englot, Philip A Starr, Alastair J Martin, Paul S Larson
BACKGROUND/AIMS: Interventional MRI (iMRI) allows real-time confirmation of electrode and microcatheter location in anesthetized patients; however, MRI-compatible pneumatic compression devices (PCD) to reduce the periprocedural venous thromboembolism (VTE) risk are not commercially available. Given the paucity of literature on VTE following iMRI surgery, better characterizing patients suffering this complication and the incidence of this event following iMRI procedures is pivotal for defining best surgical practices...
March 1, 2018: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/29494580/hyperendemic-dengue-transmission-and-identification-of-a-locally-evolved-denv-3-lineage-papua-new-guinea-2007-2010
#9
Dagwin Luang-Suarkia, Oriol Mitja, Timo Ernst, Shannon Bennett, Alfred Tay, Russell Hays, David W Smith, Allison Imrie
BACKGROUND: Dengue is endemic in the Western Pacific and Oceania and the region reports more than 200,000 cases annually. Outbreaks of dengue and severe dengue occur regularly and movement of virus throughout the region has been reported. Disease surveillance systems, however, in many areas are not fully established and dengue incidence is underreported. Dengue epidemiology is likely least understood in Papua New Guinea (PNG), where the prototype DENV-2 strain New Guinea C was first isolated by Sabin in 1944 but where routine surveillance is not undertaken and little incidence and prevalence data is available...
March 1, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29486714/knowledge-attitude-and-practice-regarding-dengue-virus-infection-among-inhabitants-of-aceh-indonesia-a-cross-sectional-study
#10
Harapan Harapan, Yogambigai Rajamoorthy, Samsul Anwar, Aslam Bustamam, Arsil Radiansyah, Pradiba Angraini, Riny Fasli, Salwiyadi Salwiyadi, Reza Akbar Bastian, Ade Oktiviyari, Imaduddin Akmal, Muhammad Iqbalamin, Jamalul Adil, Fenni Henrizal, Darmayanti Darmayanti, Rovy Pratama, Abdul Malik Setiawan, Mudatsir Mudatsir, Panji Fortuna Hadisoemarto, Mandira Lamichhane Dhimal, Ulrich Kuch, David Alexander Groneberg, Allison Imrie, Meghnath Dhimal, Ruth Müller
BACKGROUND: The Indonesian region of Aceh was the area most severely affected by the earthquake and tsunami of 26 December 2004. Department of Health data reveal an upward trend of dengue cases in Aceh since the events of the tsunami. Despite the increasing incidence of dengue in the region, there is limited understanding of dengue among the general population of Aceh. The aim of this study was to assess the knowledge, attitude, and practice (KAP) regarding dengue among the people of Aceh, Indonesia in order to design intervention strategies for an effective dengue prevention program...
February 27, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29468228/two-cases-of-differentiation-syndrome-with-ocular-manifestations-in-patients-with-acute-promyelocytic-leukaemia-treated-with-all-trans-retinoic-acid-and-arsenic-trioxide
#11
A R Newman, B Leung, A Richards, T G Campbell, J Wellwood, F R Imrie
Purpose: To describe two cases of differentiation syndrome presenting with ocular manifestations including bilateral chorioretinopathy in patients with acute promyelocytic leukaemia treated with all-trans retinoic acid and arsenic trioxide differentiation therapy. Observations: This observational case series identifies two patients at a single tertiary institution diagnosed with differentiation syndrome with associated ophthalmic involvement. Both patients reported bilateral reduction in visual acuity at days fourteen and ten respectively following initiation of differentiation therapy in addition to developing other systemic manifestations of differentiation syndrome...
March 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29460745/seroprevalence-of-dengue-and-chikungunya-virus-antibodies-french-polynesia-2014-2015
#12
Maite Aubry, Anita Teissier, Michael Huart, Sébastien Merceron, Jessica Vanhomwegen, Mihiau Mapotoeke, Teheipuaura Mariteragi-Helle, Claudine Roche, Anne-Laure Vial, Sylvianne Teururai, Sébastien Sicard, Sylvie Paulous, Philippe Desprès, Jean-Claude Manuguerra, Henri-Pierre Mallet, Allison Imrie, Didier Musso, Xavier Deparis, Van-Mai Cao-Lormeau
We investigated dengue and chikungunya virus antibody seroprevalence in French Polynesia during 2014-2015. Dengue virus seroprevalence was ≈60% among schoolchildren and >83% among the general population; chikungunya virus seroprevalence was <3% before and 76% after Zika virus emergence (2013). Dengue virus herd immunity may affect Zika virus infection and pathogenesis.
March 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29406414/pediatric-musculoskeletal-interventional-mri
#13
Roberto Blanco Sequeiros, Juha-Jaakko Sinikumpu, Risto Ojala, Jyri Järvinen, Jan Fritz
Minimally invasive procedures play a crucial role in the diagnosis and treatment of many pediatric musculoskeletal conditions. Although computed tomography and fluoroscopy are commonly used for image guidance, the associated exposure to ionizing radiation is especially concerning in pediatric patients. Ultrasonography may be used successfully in a subset of interventions, but it is often not useful for complex, deep, and osseous targets. Interventional magnetic resonance imaging (iMRI) facilitates targeting and treatment of musculoskeletal lesions at many locations with high accuracy due to its excellent tissue contrast...
February 2018: Topics in Magnetic Resonance Imaging: TMRI
https://www.readbyqxmd.com/read/29406408/imri-symposium-past-present-future
#14
Clare Tempany, Jon S Lewin, Thomas Kahn
No abstract text is available yet for this article.
February 2018: Topics in Magnetic Resonance Imaging: TMRI
https://www.readbyqxmd.com/read/29368236/experimental-study-of-sector-and-linear-array-ultrasound-accuracy-and-the-influence-of-navigated-3d-reconstruction-as-compared-to-mri-in-a-brain-tumor-model
#15
Max Siekmann, Thomas Lothes, Ralph König, Christian Rainer Wirtz, Jan Coburger
PURPOSE: Currently, intraoperative ultrasound in brain tumor surgery is a rapidly propagating option in imaging technology. We examined the accuracy and resolution limits of different ultrasound probes and the influence of 3D-reconstruction in a phantom and compared these results to MRI in an intraoperative setting (iMRI). METHODS: An agarose gel phantom with predefined gel targets was examined with iMRI, a sector (SUS) and a linear (LUS) array probe with two-dimensional images...
January 24, 2018: International Journal of Computer Assisted Radiology and Surgery
https://www.readbyqxmd.com/read/29355914/intraoperative-imaging-technology-to-maximise-extent-of-resection-for-glioma
#16
REVIEW
Michael D Jenkinson, Damiano Giuseppe Barone, Andrew Bryant, Luke Vale, Helen Bulbeck, Theresa A Lawrie, Michael G Hart, Colin Watts
BACKGROUND: Extent of resection is considered to be a prognostic factor in neuro-oncology. Intraoperative imaging technologies are designed to help achieve this goal. It is not clear whether any of these sometimes very expensive tools (or their combination) should be recommended as standard care for people with brain tumours. We set out to determine if intraoperative imaging technology offers any advantage in terms of extent of resection over standard surgery and if any one technology was more effective than another...
January 22, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29351243/awake-versus-asleep-deep-brain-stimulation-surgery-technical-considerations-and-critical-review-of-the-literature
#17
REVIEW
Ryan B Kochanski, Sepehr Sani
Advancements in neuroimaging have led to a trend toward direct, image-based targeting under general anesthesia without the use of microelectrode recording (MER) or intraoperative test stimulation, also referred to as "asleep" deep brain stimulation (DBS) surgery. Asleep DBS, utilizing imaging in the form of intraoperative computed tomography (iCT) or magnetic resonance imaging (iMRI), has demonstrated reliable targeting accuracy of DBS leads implanted within the globus pallidus and subthalamic nucleus while also improving clinical outcomes in patients with Parkinson's disease...
January 19, 2018: Brain Sciences
https://www.readbyqxmd.com/read/29335413/heliconical-smectic-phases-formed-by-achiral-molecules
#18
Jordan P Abberley, Ross Killah, Rebecca Walker, John M D Storey, Corrie T Imrie, Mirosław Salamończyk, Chenhui Zhu, Ewa Gorecka, Damian Pociecha
Chiral symmetry breaking in soft matter is a hot topic of current research. Recently, such a phenomenon was found in a fluidic phase showing orientational order of molecules-the nematic phase; although built of achiral molecules, the phase can exhibit structural chirality-average molecular direction follows a short-pitch helix. Here, we report a series of achiral asymmetric dimers with an odd number of atoms in the spacer, which form twisted structures in nematic as well as in lamellar phases. The tight pitch heliconical nematic (NTB ) phase and heliconical tilted smectic C (SmCTB ) phase are formed...
January 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29260585/intraoperative-visualisation-of-functional-structures-facilitates-safe-frameless-stereotactic-biopsy-in-the-motor-eloquent-regions-of-the-brain
#19
Jia-Shu Zhang, Ling Qu, Qun Wang, Wei Jin, Yuan-Zheng Hou, Guo-Chen Sun, Fang-Ye Li, Xin-Guang Yu, Ban-Nan Xu, Xiao-Lei Chen
BACKGROUND: For stereotactic brain biopsy involving motor eloquent regions, the surgical objective is to enhance diagnostic yield and preserve neurological function. To achieve this aim, we implemented functional neuro-navigation and intraoperative magnetic resonance imaging (iMRI) into the biopsy procedure. The impact of this integrated technique on the surgical outcome and postoperative neurological function was investigated and evaluated. METHOD: Thirty nine patients with lesions involving motor eloquent structures underwent frameless stereotactic biopsy assisted by functional neuro-navigation and iMRI...
December 20, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29242141/molecular-and-epidemiological-evidence-of-patient-to-patient-hepatitis-c-virus-transmission-in-a-scottish-emergency-department
#20
I Johannessen, J Danial, D B Smith, J Richards, L Imrie, A Rankin, L J Willocks, C Evans, C Leen, P Gibson, P Simmonds, D Goldberg, A McCallum, K Roy
BACKGROUND: Transmission of hepatitis C virus (HCV) in the healthcare setting is rare. Routine infection prevention and control measures mean that this should be a preventable 'never event'. AIM: To investigate the diagnosis of acute healthcare-associated HCV infection. METHODS: Epidemiological and molecular investigation of a case of acute HCV infection associated with nosocomial exposure. FINDINGS: Detailed investigation of the treatment history of a patient with acute HCV infection identified transmission from a co-attending patient in an emergency department as the likely source; this possibility was confirmed by virus sequence analysis...
April 2018: Journal of Hospital Infection
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