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https://www.readbyqxmd.com/read/28749473/slc39a8-deficiency-biochemical-correction-and-major-clinical-improvement-by-manganese-therapy
#1
Julien H Park, Max Hogrebe, Manfred Fobker, Renate Brackmann, Barbara Fiedler, Janine Reunert, Stephan Rust, Konstantinos Tsiakas, René Santer, Marianne Grüneberg, Thorsten Marquardt
PurposeSLC39A8 deficiency is a severe inborn error of metabolism that is caused by impaired function of manganese metabolism in humans. Mutations in SLC39A8 lead to impaired function of the manganese transporter ZIP8 and thus manganese deficiency. Due to the important role of Mn(2+) as a cofactor for a variety of enzymes, the resulting phenotype is complex and severe. The manganese-dependence of β-1,4-galactosyltransferases leads to secondary hypoglycosylation, making SLC39A8 deficiency both a disorder of trace element metabolism and a congenital disorder of glycosylation...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749455/primary-biliary-cholangitis-alters-functional-connections-of-the-brain-s-deep-gray-matter
#2
Victoria A L Mosher, Mark G Swain, Jack X Q Pang, Gilaad G Kaplan, Keith A Sharkey, Glenda M MacQueen, Bradley G Goodyear
OBJECTIVES: Fatigue, itch, depressed mood, and cognitive impairment significantly impact the quality of life of many patients with primary biliary cholangitis (PBC). Previous neuroimaging studies of non-hepatic diseases suggest that these symptoms are often associated with dysfunction of deep gray matter brain regions. We used resting-state functional magnetic resonance imaging (rsfMRI) to determine whether PBC patients exhibit altered functional connections of deep gray matter. METHODS: Twenty female non-cirrhotic PBC patients and 21 age/gender-matched controls underwent rsfMRI...
July 27, 2017: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/28749419/consuming-almonds-vs-isoenergetic-baked-food-does-not-differentially-influence-postprandial-appetite-or-neural-reward-responses-to-visual-food-stimuli
#3
R Drew Sayer, Jaapna Dhillon, Gregory G Tamer, Marc-Andre Cornier, Ningning Chen, Amy J Wright, Wayne W Campbell, Richard D Mattes
Nuts have high energy and fat contents, but nut intake does not promote weight gain or obesity, which may be partially explained by their proposed high satiety value. The primary aim of this study was to assess the effects of consuming almonds versus a baked food on postprandial appetite and neural responses to visual food stimuli. Twenty-two adults (19 women and 3 men) with a BMI between 25 and 40 kg/m² completed the current study during a 12-week behavioral weight loss intervention. Participants consumed either 28 g of whole, lightly salted roasted almonds or a serving of a baked food with equivalent energy and macronutrient contents in random order on two testing days prior to and at the end of the intervention...
July 27, 2017: Nutrients
https://www.readbyqxmd.com/read/28749356/improving-alzheimeres-disease-classification-by-combining-multiple-measures
#4
Jin Liu, Jianxin Wang, Zhenjun Tang, Bin Hu, Fang-Xiang Wu, Yi Pan
Several anatomical magnetic resonance imaging (MRI) markers for Alzheimer's disease (AD) have been identified. Cortical gray matter volume, cortical thickness, and subcortical volume have been used successfully to assist the diagnosis of Alzheimer's disease (AD) including its early warning and developing stages, e.g., mild cognitive impairment (MCI) including MCI converted to AD (MCIc) and MCI not converted to AD (MCInc). Currently, these anatomical MRI measures have mainly been used separately. Thus, the full potential of anatomical MRI scans for AD diagnosis might not yet have been used optimally...
July 25, 2017: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://www.readbyqxmd.com/read/28749175/direct-shoulder-magnetic-resonance-arthrography-for-superior-labral-anterior-to-posterior-slap-and-bankart-lesions-investigation-into-the-appropriate-dose-and-level-of-local-anesthesia
#5
Sun Hwa Lee, Seong Jong Yun, Hyeon Hwan Jo, Dong Hyeon Kim, Jae Gwang Song, Yong Sung Park
OBJECTIVES: To compare contrast leakage, pain score, image quality, and diagnostic performance at different doses and levels of local anesthesia for direct shoulder magnetic resonance arthrography (MRA). METHODS: Patients (n=157) were prospectively enrolled and allocated to group 1 (no local anesthetic), group 2 (local anesthesia to subcutaneous fat level; lidocaine 1-2 mL), group 3 (to deltoid muscle level; 3-5 mL), or group 4 (to subscapularis muscle level; 6-8 mL)...
July 27, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28749173/assessment-of-sacroiliitis-for-the-diagnosis-of-spondyloarthropathy-fat-saturated-t2-weighted-imaging-with-stir-versus-fat-saturated-contrast-enhanced-t1-weighted-imaging
#6
Siyoun Sung, Hyun Su Kim, Jong Won Kwon
OBJECTIVES: To evaluate whether there is significant differences between contrastenhanced fat-saturated T1-weighted imaging and non-enhanced fat-suppression imaging for diagnosing sacroiliitis in patients with inflammatory back pain. METHODS: Ninety-two patients, consisting of 46 men and 46 women (mean age: 34 years; range: 15-63 years), who met at least four out of five Assessment in SpondyloArthritis international Society (ASAS) criteria for inflammatory low back pain were enrolled in this study...
July 27, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28749166/ablative-safety-margin-depicted-by-fusion-imaging-with-post-treatment-contrast-enhanced-ultrasound-and-pre-treatment-cect-cemri-after-radiofrequency-ablation-for-liver-cancers
#7
Xiao-Wan Bo, Hui-Xiong Xu, Le-Hang Guo, Li-Ping Sun, Xiao-Long Li, Chong-Ke Zhao, Ya-Ping He, Bo-Ji Liu, Dan-Dan Li, Kun Zhang, Dan Wang
OBJECTIVES: To evaluate the value of fusion imaging with post-treatment contrast-enhanced ultrasound (CEUS) and pre-treatment contrast-enhanced computed tomography/magnetic resonance imaging (CECT/CEMRI) in evaluating ablative safety margin after percutaneous ultrasound (US)-guided radiofrequency ablation (RFA) for liver cancers. METHODS: 34 consecutive patients with 47 liver lesions who had undergone RFA were included. Fusion imaging with post-treatment CEUS and pre-treatment CECT/CEMRI was carried out to evaluate local treatment response and ablative safety margin within 1-3 days after RFA...
July 27, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28749094/superiority-of-ultrasound-guided-shamrock-lumbar-plexus-block
#8
Martin V Nielsen, Thomas F Bendtsen, Jens Børglum
BACKGROUND: Ultrasound-guided lumbar plexus block performed with the Shamrock approach has received much interest since the technique was first described in 2013. The technique is believed to be faster and easier to perform and possibly safer in regards to potential complications compared with other lumbar plexus blocks. METHODS: In order to outline some favorable characteristics of the Shamrock lumbar plexus block, we performed an exhaustive search of the current literature; even though it is rather limited...
July 26, 2017: Minerva Anestesiologica
https://www.readbyqxmd.com/read/28749070/diagnostic-accuracy-of-magnetic-resonance-imaging-mri-5-point-likert-scoring-system-evaluated-by-the-result-of-mri-ultrasonography-image-fusion-targeted-biopsy-of-the-prostate
#9
Toshitaka Shin, Thomas B Smyth, Osamu Ukimura, Nariman Ahmadi, Andre Luis de Castro Abreu, Chisato Ohe, Masakatsu Oishi, Hiromitsu Mimata, Inderbir S Gill
OBJECTIVE: To evaluate the accuracy of MRI based Likert scoring system in detection of clinically significant prostate cancer (CSPC) using MRI/Ultrasonography (US) image-fusion targeted biopsy (FTB) as a reference standard. PATIENTS AND METHODS: We retrospectively reviewed 1218 MRI-lesions in 629 patients who underwent subsequent MRI/US FTB between 10/2012 and 8/2015. 3-Tesla MRI was independently reported by 1 of 8 radiologists with varying levels of experience and scored on a 5-point Likert scale...
July 27, 2017: BJU International
https://www.readbyqxmd.com/read/28748934/synergy-of-synthesis-computation-and-nmr-reveals-correct-baulamycin-structures
#10
Jingjing Wu, Paula Lorenzo, Siying Zhong, Muhammad Ali, Craig P Butts, Eddie L Myers, Varinder K Aggarwal
Small-molecule, biologically active natural products continue to be our most rewarding source of, and inspiration for, new medicines. Sometimes we happen upon such molecules in minute quantities in unique, difficult-to-reach, and often fleeting environments, perhaps never to be discovered again. In these cases, determining the structure of a molecule-including assigning its relative and absolute configurations-is paramount, enabling one to understand its biological activity. Molecules that comprise stereochemically complex acyclic and conformationally flexible carbon chains make such a task extremely challenging...
July 26, 2017: Nature
https://www.readbyqxmd.com/read/28748908/natural-history-of-de-novo-high-grade-glioma-first-description-of-growth-parabola
#11
Roberto Altieri, Seiichiro Hirono, Hugues Duffau, Alessandro Ducati, Marco Fontanella, Giuseppe LA Rocca, Antonio Melcarne, Pier P Panciani, Giannantonio Spena, Diego Garbossa
Etiopathogenesis and physiopathology of gliomas are largely unknown. Recently, many authors have proved a strict correlation between the velocity of diametric expansion (VDE) on the Magnetic Resonance Imaging (MRI) and the biological behavior of these tumors, especially in Low Grade Gliomas (LGGs). Unfortunately, natural history of High Grade Gliomas (HGGs) has not been well clarified because of its fast progression, late diagnoses and early surgical intervention. We describe, for the first time to our knowledge, the case of asymptomatic patient with an incidentally discovered de novo HGG with a total of 17 months of follow-up...
July 26, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28748787/scanning-for-justice-with-functional-magnetic-resonance-imaging
#12
Stephanie Yarnell, Alexander Westphal, David A Ross
No abstract text is available yet for this article.
August 15, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28748695/extraction-and-quantification-of-sinapinic-acid-from-irish-rapeseed-meal-and-assessment-of-angiotensin-i-converting-enzyme-ace-i-inhibitory-activity
#13
Leah Quinn, Steven G Gray, Steve Meaney, Stephen Finn, Padraig McLoughlin, Maria Hayes
Phenolic compounds including phenolic acids, are known to play a protective role against the development of cardiovascular disease. The aim of this work was to generate a phenolic acid extract from Irish rapeseed meal to determine the quantity of sinapinic acid (SA) in this fraction and to assess the ability of this fraction to inhibit the enzyme angiotensin-I converting enzyme (ACE-I). A crude phenolic extract (fraction 1), free phenolic acid containing extract (fraction 2) and an extract containing phenolic acids liberated from esters (fraction 3) were generated from Irish rapeseed meal using a methanol: acetone: water solvent mixture (7:7:6)...
July 27, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28748674/prognosis-of-patients-with-behavioral-variant-frontotemporal-dementia-who-have-focal-versus-diffuse-frontal-atrophy
#14
Jin San Lee, Na Yeon Jung, Young Kyoung Jang, Hee Jin Kim, Sang Won Seo, Juyoun Lee, Yeo Jin Kim, Jae Hong Lee, Byeong C Kim, Kyung Won Park, Soo Jin Yoon, Jee H Jeong, Sang Yun Kim, Seung Hyun Kim, Eun Joo Kim, Key Chung Park, David S Knopman, Duk L Na
BACKGROUND AND PURPOSE: Only a few studies have investigated the relationship between different subtypes and disease progression or prognosis in patients with behavioral variant frontotemporal dementia (bvFTD). Since a localized injury often produces more focal signs than a diffuse injury, we hypothesized that the clinical characteristics differ between patients with bvFTD who show diffuse frontal lobe atrophy (D-type) on axial magnetic resonance imaging (MRI) scans versus those with focal or circumscribed frontal lobe atrophy (F-type)...
July 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28748630/transverse-myelitis-as-an-unexpected-complication-following-treatment-with-dinutuximab-in-pediatric-patients-with-high-risk-neuroblastoma-a-case-series
#15
Yang-Yang Ding, Jessica Panzer, John M Maris, Alicia Castañeda, Marta Gomez-Chiari, Jaume Mora
Immunotherapy with the anti-GD2 monoclonal antibody ch14.18, or dinutuximab, represents an important therapeutic advance in the treatment of pediatric high-risk neuroblastoma and is now considered part of standard of care in this patient population. To date, transverse myelitis as a result of dinutuximab therapy has not been reported in clinical trials or in the published literature. We describe three patients with clinical symptoms of transverse myelitis, confirmed via magnetic resonance imaging, shortly following initiation of dinutuximab...
July 27, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28748623/photoacoustic-guided-surgery-with-indocyanine-green-coated-superparamagnetic-iron-oxide-nanoparticle-clusters
#16
Jayesh P Thawani, Ahmad Amirshaghaghi, Lesan Yan, Joel M Stein, Jessica Liu, Andrew Tsourkas
A common cause of local tumor recurrence in brain tumor surgery results from incomplete surgical resection. Adjunctive technologies meant to facilitate gross total resection have had limited efficacy to date. Contrast agents used to delineate tumors preoperatively cannot be easily or accurately used in the real-time operative setting. Although multimodal imaging contrast agents are developed to help the surgeon discern tumor from normal tissue in the operating room, these contrast agents are not readily translatable...
July 27, 2017: Small
https://www.readbyqxmd.com/read/28748562/visualization-of-macrophage-recruitment-in-head-and-neck-carcinoma-model-using-fluorine-19-magnetic-resonance-imaging
#17
Aman Khurana, Fanny Chapelin, Hongyan Xu, Joseph R Acevedo, Alfred Molinolo, Quyen Nguyen, Eric T Ahrens
PURPOSE: To evaluate the role of infiltrating macrophages in murine models of single and double mutation head and neck tumors using a novel fluorine-19 ((19) F) MRI technology. METHODS: Tumor cell lines single-hit/SCC4 or double-hit/Cal27, with mutations of TP53 and TP53 & FHIT, respectively, were injected bilaterally into the flanks of (n = 10) female mice. With tumors established, perfluorocarbon nanoemulsion was injected intravenously, which labels in situ predominantly monocytes and macrophages...
July 26, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28748504/whole-brain-analyses-of-age-related-microstructural-changes-quantified-using-different-diffusional-magnetic-resonance-imaging-methods
#18
Miho Ota, Noriko Sato, Norihide Maikusa, Daichi Sone, Hiroshi Matsuda, Hiroshi Kunugi
PURPOSE: The new diffusional magnetic resonance imaging (dMRI) techniques, diffusional kurtosis imaging (DKI) and neurite orientation dispersion and density imaging (NODDI) have been developed to clarify the microstructural changes. To our knowledge, however, there is little information on the similarities and differences of these metrics evaluated by the image-by-image paired t test. MATERIALS AND METHODS: Twenty-three healthy subjects underwent dMRI. We estimated the relationships of these metrics evaluated by the image-by-image paired t-test and compared aging effects on each metric...
July 26, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28748503/role-of-18-f-fdg-pet-ct-in-patients-affected-by-langerhans-cell-histiocytosis
#19
Domenico Albano, Giovanni Bosio, Raffaele Giubbini, Francesco Bertagna
PURPOSE: Langerhans cell histiocytosis (LCH) is a rare hematological disorder for which the utility of(18)F-FDG PET/CT is unclear. Our aim was to explore the metabolic features of LCH and the possible role of(18)F-FDG PET/CT in LCH evaluation. MATERIALS AND METHODS: We found 17 patients with histologically proven LCH who underwent 17(18)F-FDG PET/CT scans for staging and 42 scans for restaging/follow-up purposes. PET/CT results were compared with those obtained from other conventional imaging modalities (bone scintigraphy, plain radiogram, computed tomography, magnetic resonance)...
July 26, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28748491/polyurethane-meniscal-scaffolds-lead-to-better-clinical-outcomes-but-worse-articular-cartilage-status-and-greater-absolute-meniscal-extrusion
#20
Young-Soo Shin, Hoon-Nyun Lee, Hyun-Bo Sim, Hyun-Jung Kim, Dae-Hee Lee
PURPOSE: Implantation of polyurethane (PU) meniscal scaffolds has become a popular procedure to provide a scaffold for vessel ingrowth and meniscal tissue regeneration in patients with partial meniscal defects. However, it is unclear whether PU meniscal scaffolds lead to better clinical and magnetic resonance imaging (MRI) outcomes post-operatively. This meta-analysis compared the clinical and MRI outcomes in patients with partial meniscal defects treated with PU meniscal scaffolds. METHODS: This meta-analysis reviewed all studies that assessed Lysholm score, International Knee Documentation Committee (IKDC) score, visual analogue scale (VAS) for pain, Tegner score, Knee Injury and Osteoarthritis Outcomes Score (KOOS), articular cartilage (AC), absolute meniscal extrusion (AME), morphology and size (MS), signal intensity (SI) of meniscal implant, and interface of the implant-residual meniscus complex (IIRMC) in patients with partial meniscal defects treated with PU meniscal scaffolds...
July 26, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
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