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https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#1
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635381/provoked-eagle-syndrome-after-dental-procedure-a-review-of-the-literature
#2
Shuo Li, Neeraj Blatt, Jubin Jacob, Nishant Gupta, Yogesh Kumar, Scott Smith
Eagle syndrome is an uncommon condition caused by an elongated ossified styloid process. The majority of individuals with an elongated ossified styloid process are asymptomatic. Therefore, this condition is diagnosed based on clinical presentation, with radiologic imaging serving to confirm the diagnosis. The styloid process is considered elongated if measuring greater than 3 cm, but there is little correlation between length of the styloid process and severity of symptoms. This syndrome was originally described in post-tonsillectomy patients, but has since been seen in other clinical settings...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28635336/new-advances-in-focal-therapy-for-early-stage-prostate-cancer
#3
Kae Jack Tay, Ariel A Schulman, Christina Sze, Efrat Tsivian, Thomas J Polascik
Prostate focal therapy offers men the opportunity to achieve oncological control while preserving sexual and urinary function. The prerequisites for successful focal therapy are to accurately identify, localize and completely ablate the clinically significant cancer(s) within the prostate. We aim to evaluate the evidence for current and upcoming technologies that could shape the future of prostate cancer focal therapy in the next five years. Areas Covered: Current literature on advances in patient selection using imaging, biopsy and biomarkers, ablation techniques and adjuvant treatments for focal therapy are summarized...
June 21, 2017: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/28634742/outcomes-of-coronoid-first-repair-in-terrible-triad-injuries-of-the-elbow
#4
Junren Zhang, Mark Tan, Ernest Beng Kee Kwek
BACKGROUND: Clinical outcomes of terrible triad injuries (TTIs) of the elbow are historically poor. To date, it is still debatable whether the coronoid needs to be fixed and if so, how and in which sequence. METHODOLOGY: Between 2010 and 2013, 13 patients were treated surgically for acute TTIs of the elbow at a Tertiary Level 1 Trauma Centre by a single surgeon, using a standardized protocol, which included coronoid-brachialis complex fixation via pull-through trans-osseous sutures, radial head fixation or prosthetic replacement and a repair of the lateral ulnar collateral ligament...
June 20, 2017: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/28634696/prominent-midfoot-involvement-in-children-with-enthesitis-related-arthritis-category-of-juvenile-idiopathic-arthritis
#5
Sanat Phatak, Namita Mohindra, Abhishek Zanwar, Amita Aggarwal
Foot involvement is common in juvenile idiopathic arthritis (JIA) but is often unrecognized and difficult to treat. This study was done to assess clinical and radiological involvement of the feet and its impact on function in Indian children with enthesitis-related arthritis (ERA). We enrolled consecutive children with ERA with disease duration of less than 5 years. All patients underwent clinical examination of the feet and filled the juvenile arthritis foot index (JAFI) questionnaire. Ultrasound (US) of foot joints and entheses and extremity magnetic resonance imaging (MRI) scan of one foot were done...
June 20, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28634619/implementation-of-li-rads-into-a-radiological-practice
#6
REVIEW
Stefan T Siedlikowski, Ania Z Kielar, Eleanor L Ormsby, Bijan Bijan, Christopher Kagay
Since its introduction in 2011, Liver Imaging Reporting and Data System (LI-RADS) has become an increasingly utilized method for radiologists to categorize lesions for hepatocellular carcinoma (HCC) in patients at risk (American College of Radiology, www.acr.org/quality-safety/resources/lirads 2016). This overview article presents insight into methods of incorporating LI-RADS into an existing clinical practice, highlighting concrete ways to establish this system as a mainstay in any radiologist's evidence-based armamentarium...
June 20, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28634469/alexander-disease-mutations-produce-cells-with-coexpression-of-glial-fibrillary-acidic-protein-and-ng2-in-neurosphere-cultures-and-inhibit-differentiation-into-mature-oligodendrocytes
#7
Ulises Gómez-Pinedo, Maria Salomé Sirerol-Piquer, María Durán-Moreno, José Manuel García-Verdugo, Jorge Matias-Guiu
BACKGROUND: Alexander disease (AxD) is a rare disease caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP). The disease is characterized by presence of GFAP aggregates in the cytoplasm of astrocytes and loss of myelin. OBJECTIVES: Determine the effect of AxD-related mutations on adult neurogenesis. METHODS: We transfected different types of mutant GFAP into neurospheres using the nucleofection technique. RESULTS: We find that mutations may cause coexpression of GFAP and NG2 in neurosphere cultures, which would inhibit the differentiation of precursors into oligodendrocytes and thus explain the myelin loss occurring in the disease...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28634311/-bevacizumab-related-hyperintense-lesions-on-diffusion-weighted-imaging-at-different-locations-in-a-patient-with-malignant-glioma
#8
Shinya Oshiro, Naoki Wakuta, Shinichi Kawai, Koichi Miki, Yutaka Shigemori
We report the case of a 60-year-old man who first presented with transient difficulty of word recall. Subsequent MRI revealed an invasive brain tumor in the left frontal lobe. The patient underwent open biopsy, and diffuse astrocytoma(WHO grade II)was diagnosed. However, the malignant potential of this tumor was not particularly low because of a few enhancement on preoperative evaluation, and radiation therapy was initially performed. Four months after ending irradiation, temozolomide treatment was introduced for tumor regrowth...
June 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28634220/tidal-changes-on-ct-and-progression-of-ards
#9
Maurizio Cereda, Yi Xin, Hooman Hamedani, Giacomo Bellani, Stephen Kadlecek, Justin Clapp, Luca Guerra, Natalie Meeder, Jennia Rajaei, Nicholas J Tustison, James C Gee, Brian P Kavanagh, Rahim R Rizi
BACKGROUND: Uncertain prediction of outcome in acute respiratory distress syndrome (ARDS) impedes individual patient management and clinical trial design. OBJECTIVES: To develop a radiological metric of injurious inflation derived from matched inspiratory and expiratory CT scans, calibrate it in a model of experimental lung injury, and test it in patients with ARDS. METHODS: 73 anaesthetised rats (acid aspiration model) were ventilated (protective or non-protective) for up to 4 hours to generate a spectrum of lung injury...
June 20, 2017: Thorax
https://www.readbyqxmd.com/read/28634042/routine-ultrasound-quality-assurance-in-a-multi-unit-radiology-department-a-retrospective-evaluation-of-transducer-failures
#10
Anne-Mari Vitikainen, Juha I Peltonen, Eija Vartiainen
The importance of quality assurance (QA) in medical ultrasound (US) has been widely recognized and recommendations concerning technical QA have been published over the years. However, the demonstrated impact of a properly working QA protocol on clinical routine has been scarce. We investigated the transducer write-off causes for a 5-y period in a multi-unit radiology department with an annual average of 230 transducers in demanding diagnostic use. The transducer faults and the initial observers of the faults leading to transducer write-offs were traced and categorized...
June 17, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28633973/patellofemoral-osteoarthritis-progression-and-alignment-changes-after-open-wedge-high-tibial-osteotomy-do-not-affect-clinical-outcomes-at-mid-term-follow-up
#11
Kenichi Goshima, Takeshi Sawaguchi, Kenji Shigemoto, Shintaro Iwai, Akira Nakanishi, Ken Ueoka
PURPOSE: To evaluate the clinical and radiological outcomes of open-wedge high tibial osteotomy (OWHTO) with respect to the patellofemoral joint and to assess whether patellofemoral osteoarthritis (OA) progression and alignment changes after OWHTO affect clinical outcomes. METHODS: Inclusion criteria were consecutive patients who underwent OWHTO from March 2005 to September 2013. Exclusion criteria were loss to follow-up within 2 years and absence of second-look arthroscopy findings at the time of plate removal...
June 17, 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28633923/-quality-in-practice-an-introduction-to-a-new-bimonthly-column-focused-on-radiology-quality-and-safety
#12
H Benjamin Harvey, Susan T Sotardi
No abstract text is available yet for this article.
June 17, 2017: Journal of the American College of Radiology: JACR
https://www.readbyqxmd.com/read/28633921/applying-the-national-committee-for-quality-assurance-patient-centered-specialty-practice-framework-to-radiology
#13
Allison M Greene, Christopher R Bailey, Mollie Young, Elyce Wolfgang, Aylin Tekes, Thierry A G M Huisman, Daniel J Durand
No abstract text is available yet for this article.
June 17, 2017: Journal of the American College of Radiology: JACR
https://www.readbyqxmd.com/read/28633793/treatment-of-a-focal-articular-cartilage-defect-of-the-talus-with-polymer-based-autologous-chondrocyte-implantation-a-12-year-follow-up-period
#14
Peter Cornelius Kreuz, Richard Horst Kalkreuth, Philipp Niemeyer, Markus Uhl, Christoph Erggelet
Autologous chondrocyte implantation (ACI) is a first-line treatment option for large articular cartilage defects. Although well-established for cartilage defects in the knee, studies of the long-term outcomes of matrix-assisted ACI to treat cartilage defects in the ankle are rare. In the present report, we describe for the first time the long-term clinical and radiologic results 12 years after polymer-based matrix-assisted ACI treat a full-thickness talar cartilage defect in a 25-year-old male patient. The clinical outcome was assessed using the visual analog scale and Freiburg ankle score, magnetic resonance imaging evaluation using the Henderson-Kreuz scoring system and T2 mapping...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633776/bioabsorbable-calcaneo-stop-implant-for-the-treatment-of-flexible-flatfoot-a-retrospective-cohort-study-at-a-minimum-follow-up-of-4%C3%A2-years
#15
Sandro Giannini, Matteo Cadossi, Antonio Mazzotti, Valentina Persiani, Giuseppe Tedesco, Matteo Romagnoli, Cesare Faldini
Arthroereisis of the subtalar joint is a common surgical technique in Europe for the management of flexible flatfoot in the pediatric population. In most cases, it is performed using a calcaneo-stop metallic screw. Despite the good clinical results, screw removal is always advised after 2 to 3 years. The use of a bioabsorbable screw might overcome the need for a second operation to remove a nonabsorbable device. We report the results of a biodegradable calcaneo-stop screw at a minimum of 4 years of follow-up...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633697/capacity-strengthening-through-pre-migration-tuberculosis-screening-programmes-irhwg-experiences
#16
P Douglas, D L Posey, D Zenner, J Robson, I Abubakar, G Giovinazzo
Effective tuberculosis (TB) prevention and care for migrants requires population health-based approaches that treat the relationship between migration and health as a progressive, interactive process influenced by many variables and addressed as far upstream in the process as possible. By including capacity building in source countries, pre-migration medical screening has the potential to become an integral component of public health promotion, as well as infection and disease prevention, in migrant-receiving nations, while simultaneously increasing capabilities in countries of origin...
July 1, 2017: International Journal of Tuberculosis and Lung Disease
https://www.readbyqxmd.com/read/28633652/spontaneous-rupture-of-the-common-hepatic-duct-associated-with-acute-pancreatitis-a-case-report
#17
Makram Moussa, Wissem Triki, Omar Karray, Ines Marzouk, Bouchoucha Sami
BACKGROUND: Rupture of the common bile duct is a life-threatening condition, usually observed after a trauma or in association with choledocholithiasis or an obstructive tumor of the bile duct. However, a spontaneous rupture of the common bile duct is a rare entity. CASE PRESENTATION: We report a new observation of a spontaneous rupture of the common bile duct, associated with biliary peritonitis and pancreatitis, in a 15-year-old North African girl. Etiological aspects, specificities of clinical presentation, means of diagnosis, as well as surgical and perioperative management are discussed...
June 21, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28633648/radiologic-comparison-of-posterior-release-internal-distraction-final-pso-and-spinal-fusion-with-one-stage-posterior-vertebral-column-resection-for-multi-level-severe-congenital-scoliosis
#18
Shichang Liu, Nannan Zhang, Yueming Song, Zongrang Song, Liping Zhang, Jijun Liu, En Xie, Qining Wu, Dingjun Hao
BACKGROUND: To compare radiologic results of posterior release, internal distraction, and final pedicle subtraction osteotomy (PSO) and spinal fusionwith one-stage posterior vertebral column resection (PVCR) in treating multi-level severe congenital scoliosis. METHODS: Forty-onesevere congenital scoliosis patients were used in the study. Group A comprised 24 patients who underwent one-stage PVCR. Group B comprised 17 patients who underwent posterior release with internal distraction, followed by final posterior fusion and instrumentation...
June 20, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28633553/giant-bullous-emphysema-with-placental-transmogrification-a-case-report-of-a-14-year-old-with-right-middle-and-lower-lobe-involvement
#19
Brett M Lowenthal, Nicholas C Saenz, Grace Y Lin, Robert O Newbury
Giant bullous emphysema with placental transmogrification is an extremely rare entity, with 30 previously reported cases. Of these reported cases, it is typically identified with varied clinical and radiological impressions, presents in young adulthood to elderly, is always unilateral, and usually involves just one lobe. Despite the unknown pathogenesis, this diagnosis carries an excellent prognosis and is curative with complete resection. The pulmonary placental transmogrification is histologically indistinguishable from placental origin...
June 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28633335/pulmonary-tb-varying-radiological-presentations-in-individuals-with-hiv-in-soweto-south-africa
#20
Jesne Kistan, Fatima Laher, Kennedy Otwombe, Ravindre Panchia, Nohemie Mawaka, Limakatso Lebina, Andreas Diacon, Bavesh Kana, Neil Martinson
Background: HIV-uninfected individuals with pulmonary TB (PTB) commonly present with radiological features of upper lobe cavitatory disease. In contrast, individuals with HIV and PTB may present differently. This study compared radiological features of individuals with laboratory-confirmed PTB by HIV status from the largest study in South Africa. Methods: We conducted a cross-sectional analysis of adults recruited between 2012 and 2015 with laboratory-confirmed PTB in Soweto, South Africa...
March 1, 2017: Transactions of the Royal Society of Tropical Medicine and Hygiene
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