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https://www.readbyqxmd.com/read/29691892/congenital-titinopathy-comprehensive-characterisation-and-pathogenic-insights
#1
Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, Monique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu B Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E Leach, A Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M Connolly, Heather R Gilbreath, Susan T Iannaccone, Diana Castro, Beryl B Cummings, Richard I Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H Thomas, Nicola C Foulds, Marjorie A Illingworth, Sian Ellard, Catriona A McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T Cooper, Erik-Jan Kamsteeg, Eric P Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N North, Nigel F Clarke, Monkol Lek, Alan H Beggs, Carsten G Bönnemann, Daniel G MacArthur, Henk Granzier, Mark R Davis, Nigel G Laing
OBJECTIVE: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathology and imaging features of these patients. RESULTS: All patients had prenatal- or early-onset hypotonia and/or congenital contractures...
April 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29686165/-chronic-low-back-pain-associated-with-gluteus-medius-muscle-a-case-report
#2
Kazunori Oda, Kyongsong Kim, Rinko Kokubo, Daijiro Morimoto, Takao Kitamura, Toyohiko Isu, Akio Morita
The clinical features and etiology of low back pain(LBP)and buttock pain(BuP)has been poorly understood. We report a case of long-term BuP that was successfully treated with gluteus medius muscle(GMeM)decompression under local anesthesia. A 71-year-old man was referred to our hospital because of long-term BuP and claudication. Left BuP that radiated to the left thigh was observed. The pain was mostly triggered by palpation at the middle of the iliac crest and greater trochanter. Lumbar and pelvic radiograms showed no significant lesions...
April 2018: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/29683947/encephalocraniocutaneous-lipomatosis
#3
Abhishek Bavle, Rikin Shah, Naina Gross, Theresa Gavula, Alejandro Ruiz-Elizalde, Klaas Wierenga, Rene McNall-Knapp
A 5-year-old boy presented with worsening headaches for 3 months. On examination, he was found to have a hairless fatty tissue nevus of the scalp (nevus psiloliparus), subcutaneous soft tissue masses on the right side of his face, neck, mandible and right buttock and epibulbar dermoid of the right eye (choristoma) (Figs. 1A, B). Magnetic resonance imaging revealed a large suprasellar mass, which was debulked and found to be a pilocytic astrocytoma. Testing was not performed for the BRAF/KIAA1549 fusion or BRAFV600E mutation...
April 20, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29678564/prescription-medication-use-among-community-based-us-adults-with-chronic-low-back-pain-a-cross-sectional-population-based-study
#4
Anna Shmagel, Linh Ngo, Kristine Ensrud, Robert Foley
Many classes of medications have been evaluated in chronic low back pain (cLBP), however their utilization in the community remains unclear. We examine patterns of prescription medication use among Americans with cLBP in a nationally representative, community-based sample. The Back Pain Survey was administered to a representative sample of US adults aged 20-69 (N = 5103) during the 2009-2010 cycle of the National Health and Nutrition Examination Survey (NHANES). cLBP was defined as self-reported pain in the area between the lower posterior margin of the ribcage and the horizontal gluteal fold on most days for at least 3 months (N = 700)...
April 17, 2018: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/29672351/femoral-artery-blood-flow-and-microcirculatory-perfusion-during-acute-low-level-functional-electrical-stimulation-in-spinal-cord-injury
#5
Thomas J Barton, David A Low, Thomas W J Janssen, Maurits Sloots, Christof A J Smit, Dick H J Thijssen
OBJECTIVE: Functional electrical stimulation (FES) may help to reduce the risk of developing macro- and microvascular complications in people with SCI. Low-intensity FES has significant clinical potential since this can be applied continuously throughout the day. This study examines the acute effects of low intensity FES using wearable clothing garment on vascular blood flow and oxygen consumption in people with SCI. DESIGN: Cross-sectional observation study METHODS: Eight participants with a motor complete SCI received 4x3 minutes of unilateral FES to the gluteal and hamstring muscles...
April 19, 2018: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/29668508/ultrasound-and-plastic-surgery-clinical-applications-of-the-newest-technology
#6
John P Miller, Martin J Carney, Soobin Lim, John T Lindsey
BACKGROUND: Color Doppler ultrasound (CDUS) has not been routinely used in plastic and reconstructive surgery. Barriers to use have included large, cumbersome equipment, low-definition images, cost, and availability. In addition, programs in plastic surgery have not included training with ultrasound (US); thus, many current-day practitioners are unfamiliar with and reluctant to use this technology. Nevertheless, recent studies have demonstrated the utility of US in surgical planning. With the miniaturization, clearer imaging, and decreased costs of the latest US technology, previous barriers to use have largely been eliminated...
April 17, 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29664826/repeated-use-of-gluteal-fold-flaps-for-post-oncologic-vulvoperineal-reconstruction
#7
J Joris Hage, Maurits Lange, Henry J Zijlmans, Marc van Beurden
BACKGROUND AND AIM: Because of the associated high recurrence rate, future reconstructive options should be reckoned with during surgical treatment of primary or recurrent (pre)malignant vulvoperineal lesions. One of the claimed advantages of the gluteal fold flap is the possibility of repeated use of the flap in case of recurrence. We present our experience with such reuse of gluteal fold flaps to illustrate this possibility. METHODS: A mean of 27 months after initial use, 10 subcutaneously pedicled or perforator-based V-Y advancement or propeller-rotation flaps were elevated from previously used gluteal fold flaps in 9 women presenting with recurrent vulvoperineal (pre)malignancy...
April 17, 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29661729/myositis-ossificans-another-condition-with-usp6-rearrangement-providing-evidence-of-a-relationship-with-nodular-fasciitis-and-aneurysmal-bone-cyst
#8
Elise M Bekers, Astrid Eijkelenboom, Katrien Grünberg, Rona C Roverts, Jacky W J de Rooy, Ingrid C M van der Geest, Joost M van Gorp, David Creytens, Uta Flucke
Myositis ossificans is defined as a self-limiting pseudotumor composed of reactive hypercellular fibrous tissue and bone. USP6 rearrangements have been identified as a consistent genetic driving event in aneurysmal bone cyst and nodular fasciitis. It is therefore an integral part of the diagnostic workup when dealing with (myo)fibroblastic lesions of soft tissue and bone. Two cases of myositis ossificans with USP6 rearrangement were published so far. We determine herein the incidence of USP6 rearrangement in myositis ossificans using USP6 fluorescence in situ hybridization analysis (FISH)...
January 12, 2018: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/29655872/-contribution-of-the-scrotal-flap-for-the-coverage-of-ischial-and-perineal-pressure-ulcers
#9
M Vantomme, R Viard, R Aimard, P-L Vincent, J-P Comparin, D Voulliaume
INTRODUCTION: The ischiatric pressure sore is a common pathology in rehabilitated spinal cord injured people, despite careful prevention. Medical treatment by discharge and directed healing is not always sufficient and surgery using local musculocutaneous flaps is often essential. Unfortunately, recidivism is frequent and the availability of local flaps is limited. The scrotal flap is an excellent complement to classic flaps, gluteal flaps or hamstrings. It can be used alone or in addition to another musculocutaneous flap, in first or second intention...
April 11, 2018: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/29653454/how-does-autologous-breast-reconstruction-impact-downtime
#10
Giovanni Zoccali, Daniel Simon Rais, Jian Farhadi
BACKGROUND:  Although autologous breast reconstruction is technically quite demanding, it offers the best outcomes in terms of durable results, patient perceptions, and postoperative pain. Many studies have focused on clinical outcomes and technical aspects of such procedures, but few have addressed the impact of various flaps on patient recovery times. This particular investigation entailed an assessment of commonly used flaps, examining the periods of time required to resume daily activities...
April 13, 2018: Journal of Reconstructive Microsurgery
https://www.readbyqxmd.com/read/29650262/triple-flap-technique-for-vulvar-reconstruction
#11
R Mercut, R Sinna, R Vaucher, P A Giroux, N Assaf, A Lari, S Dast
OBJECTIVE: Perineal defects are encountered ever more frequently, in the treatment of vulvar cancers or abdominoperineal resection. The surgical treatment of vulvar cancer leads to significant skin defect. The aim of the reconstruction is not to provide volume but rather to resurface perineum. We propose a new solution to cover the extensive skin defect remaining after excision. METHODS: We report 3 patients who underwent large excision for vulvar cancer, with lymph node dissection...
April 9, 2018: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/29650015/inclusion-and-exclusion-criteria-used-in-non-specific-low-back-pain-trials-a-review-of-randomised-controlled-trials-published-between-2006-and-2012
#12
Pål André Amundsen, David W Evans, Dévan Rajendran, Philip Bright, Tom Bjørkli, Sandra Eldridge, Rachelle Buchbinder, Martin Underwood, Robert Froud
BACKGROUND: Low back pain is a common health complaint resulting in substantial economic burden. Each year, upwards of 20 randomised controlled trials (RCTs) evaluating interventions for non-specific low back pain are published. Use of the term non-specific low back pain has been criticised on the grounds of encouraging heterogeneity and hampering interpretation of findings due to possible heterogeneous causes, challenging meta-analyses. We explored selection criteria used in trials of treatments for nsLBP...
April 12, 2018: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29643670/role-of-early-dynamic-positron-emission-tomography-computed-tomography-with-68ga-prostate-specific-membrane-antigen-hbed-cc-in-patients-with-adenocarcinoma-prostate-initial-results
#13
Gazala Perveen, Geetanjali Arora, Nishikant Avinash Damle, Meghana Prabhu, Saurabh Arora, Madhavi Tripathi, Chandrasekhar Bal, Praveen Kumar, Rajeev Kumar, Prabhjot Singh
Rationale: Prostate-specific membrane antigen positron emission tomography/computed tomography (PSMA PET/CT) is widely used for imaging of prostate cancer (PC) nowadays. However, appearance of bladder activity many a times hampers lesion detection vis-a-vis primary as well as regional nodes. We aimed to assess if early dynamic PET/CT can be a potential solution to this issue. Methodology: A total of 15 biopsy-proven PC patients who were referred to our department for 68 Ga-PSMA PET/CT for staging/restaging were prospectively studied...
April 2018: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/29643607/changes-in-gluteal-pressure-and-center-of-force-during-sitting-in-children-with-cerebral-palsy
#14
Do Hyun Kim, Won-Gyu Yoo, Ji-Hye Do
[Purpose] The purpose of this study was to measure gluteal pressure and center of force (COF) during sitting in children with cerebral palsy (CP). [Subjects and Methods] The participants were five children with CP and five typically developing controls. We measured peak gluteal pressure and COF using the TekScan system. During the measurements, all children sat on the therapeutic table for 1 minute without back and foot support. [Results] The peak gluteal pressure and COF in children with CP were significantly higher than values in controls...
December 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/29629997/effects-of-hyperglycemia-on-fluorine-18-fluorodeoxyglucose-biodistribution-in-a-large-oncology-clinical-practice
#15
Dillenia Rosica, Su-Chun Cheng, Margo Hudson, Christopher Sakellis, Annick D Van den Abbeele, Chun K Kim, Heather A Jacene
AIM: Suggested cutoff points of blood glucose levels (BGL) before F-FDG PET/CT scanning vary between 120 and 200 mg/dl in current guidelines. This study's purpose was to compare the frequency of abnormal fluorine-18-fluorodeoxyglucose (F-FDG) biodistribution on PET/CT scans of patients with various ranges of abnormal BGL and to determine the effect of BGL greater than 200 mg/dl on F-FDG uptake in various organs. PATIENTS AND METHODS: F-FDG PET/CT scans were retrospectively reviewed for 325 patients with BGL greater than 120 mg/dl at the time of scan and 112 with BGL less than or equal to 120 mg/dl...
May 2018: Nuclear Medicine Communications
https://www.readbyqxmd.com/read/29628688/nerve-injuries-associated-with-total-hip-arthroplasty
#16
REVIEW
Rohit Hasija, John J Kelly, Neil V Shah, Jared M Newman, Jimmy J Chan, Jonathan Robinson, Aditya V Maheshwari
Nerve injury is a relatively rare, yet potentially devastating complication of total hip arthroplasty (THA). Incidence of this ranges from 0.6 to 3.7%, and is highest in patients with developmental hip dysplasia and previous hip surgery. Apart from patient and surgeon dissatisfaction, this complication can have medico-legal consequences. Therefore, the purpose of this study was to review the risk factors, etiology, diagnostic options, management strategies, prognosis, and prevention measures of nerve injuries associated with THA...
January 2018: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/29625856/characteristics-and-outcomes-of-reversed-patients-admitted-to-an-emergency-department-for-vka-related-intramuscular-hematoma
#17
F Moustafa, L Poujol, N Vincent, J Saint-Denis, N Dublanchet, N Breuil, S Heuser, A Lebreton, F Dutheil, J Schmidt
BACKGROUND: According to the International Society on Thrombosis and Haemostasis (ISTH), intramuscular hematoma without other severity criteria is not considered a major bleeding. OBJECTIVES: In a large cohort of reversed vitamin K antagonist (VKA) patients admitted to the emergency unit for muscular hematoma, we assess frequency, severity, and anticoagulation management based on whether ISTH criteria were met or not. MATERIALS AND METHODS: We performed a retrospective single-center study involving patients admitted to an emergency unit for VKA-induced intramuscular hematoma whose bleeding was reversed with prothrombin complex concentrates...
March 27, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29614274/a-randomized-double-blind-placebo-controlled-trial-on-the-effect-of-local-analgesia-on-postoperative-gluteal-pain-in-patients-undergoing-sacrospinous-ligament-colpopexy
#18
Cecile A Unger, Mark D Walters
OBJECTIVES: To determine if intraoperative local analgesia administered at the level of the sacrospinous ligament can lessen the gluteal pain felt by patients postoperatively after sacrospinous ligament (SSL) colpopexy. STUDY DESIGN: In a randomized double-blind placebo-controlled trial, women with vaginal apex prolapse undergoing surgical management with SSL colpopexy underwent intraoperative injection with either 0.25% bupivacaine or normal saline. Subjects completed visual analog pain scales (0-10), the Activities Assessment Scale, and recorded use of pain medications over a 6-week period...
March 31, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29610954/buttock-lifting-using-elastic-thread-elasticum-%C3%A2-with-a-new-classification-of-gluteal-ptosis
#19
Chang Hyun Oh, Seung Bin Jang, Chang Min Kang, Jeong Su Shim
PURPOSE: Conventional buttock lifting is invasive, so it is difficult to recommend it to patients especially to those who do not have severe gluteal ptosis. In addition, the gluteal area is a large area change among the joints. Therefore, this surgery can cause pain during hip flexion after lifting using a conventional thread. The authors report on buttock lifting using an elastic thread with high satisfaction from patients. METHODS: From July 2016 to June 2017, 60 patients were enrolled in this study...
April 2, 2018: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/29610937/paediatric-musculoskeletal-disease-in-kumi-district-uganda-a-cross-sectional-survey
#20
Kristin Alves, Norgrove Penny, Olive Kobusingye, Robert Olupot, Jeffrey N Katz, Coleen S Sabatini
PURPOSE: The purpose of this study is to estimate the burden of musculoskeletal disease among children treated in Kumi District, Uganda, to inform training, capacity-building efforts, and resource allocation. METHODS: We conducted a retrospective cohort study by reviewing the musculoskeletal (MSK) clinic and community outreach logs for children (age < 18 years) seen at Kumi Hospital in Kumi, Uganda, between January 2013 and December 2015. For each patient, we recorded the age, sex, diagnosis, and treatment recommendation...
April 2, 2018: International Orthopaedics
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