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https://www.readbyqxmd.com/read/28338349/clinical-features-of-children-and-adults-with-a-muscular-dystrophy-using-powered-indoor-outdoor-wheelchairs-disease-features-comorbidities-and-complications-of-disability
#1
Andrew Oliver Frank, Lorraine H De Souza
PURPOSE: To describe the clinical features of electric powered indoor/outdoor wheelchair users with a muscular dystrophy, likely to influence optimal prescription; reflecting features of muscular dystrophies, conditions secondary to disability, and comorbidities impacting on equipment provision. METHODS: Cross-sectional retrospective case note review of recipients of electric powered indoor/outdoor wheelchairs provided by a specialist regional wheelchair service...
February 25, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#2
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, Milit Marom-David, Nathan Watemberg, Jill E Urquhart, Sarah B Daly, Sanjeev S Bhaskar, Simon G Williams, William G Newman, Ronen Spiegel, Abdussalam Azem, Orly Elpeleg, Muhammad Mahajnah
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28324204/tibial-nerve-neuropathy-following-medial-opening-wedge-high-tibial-osteotomy-case-report-of-a-rare-technical-complication
#3
Young-Soo Shin, Hyun-Bo Sim, Jung-Ro Yoon
A 63-year-old woman developed tibial nerve injury caused by an overlong K wire and 4.5-mm cortical lag screw through the first distal hole below the osteotomy during medial opening-wedge high tibial osteotomy (HTO), leading to a lack of sensation on the sole of the foot with no disturbances in motor functions. The temporary lag screw in the first distal hole below the osteotomy is often inserted by an excessive length in order to compress the potentially fractured opposite cortex. By doing so, posterior neurovascular structures including the tibial nerve and the popliteal vessels can be injured...
March 21, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28323694/assessment-of-paraspinal-muscle-cross-sectional-area-after-lumbar-decompression-minimally-invasive-versus-open-approaches
#4
Lacey E Bresnahan, Justin S Smith, Alfred T Ogden, Steven Quinn, George R Cybulski, Narina Simonian, Raghu N Natarajan, Richard D Fessler, Richard G Fessler
STUDY DESIGN: A retrospective, blinded analysis of imaging studies. SUMMARY OF BACKGROUND DATA: To evaluate changes in paraspinal muscle cross-sectional area (CSA) after surgical treatment for lumbar stenosis and to compare these changes between minimally invasive and standard open approaches. The open approach to lumbar stenosis is effective, but it involves retraction and resection of muscle from the spinous process, which can result in ischemia and denervation of paraspinal musculature and may lead to muscle atrophy and pain...
April 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28296753/a-rare-thoracic-intraspinal-schwannoma-in-twin-pregnancy-with-aggravated-clinical-presence-a-case-report-following-care
#5
Ruiqi Chen, Anqi Xiao, Lu Xing, Chao You, Jiagang Liu
INTRODUCTION: This is the first case report about a thoracic intraspinal schwannoma in twin pregnancy with aggressive clinical presentation. CLINICAL PRESENCE AND DIAGNOSES: A 21-year-old woman presented with a 2-month history of back pain and slight lower extremity numbness and weakness, and her symptoms were misdiagnosed as normal reactions to pregnancy until she progressed to complete paralysis and incontinence within 2 weeks. She was then confirmed to have thoracic intraspinal schwannoma through MRI...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28291448/reliability-responsiveness-and-criterion-validity-of-the-kiio-sensor-a-new-tool-for-assessment-of-muscle-function
#6
Patrick Grabowski, Michelle Narveson, Stephen Siegle
Musculoskeletal injuries are a leading cause of disability in both the general population and military, and the ability to effectively quantify musculoskeletal function remains problematic. The aim of the current study is to investigate the reliability, responsiveness, and criterion validity of the kiio Sensor for measurement of muscle strength, a key aspect of comprehensive functional assessment. Forty-four (24 male, 20 female) physically active civilian adults (mean [SD] = 21.2 [1.5] years of age) with no history of upper extremity injuries in the last year and no current complaints of pain, weakness, or functional limitation completed two sessions of maximum shoulder external rotation contractions...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28290970/severe-systemic-lead-toxicity-resulting-from-extra-articular-retained-shrapnel-presenting-as-jaundice-and-hepatitis-a-case-report-and-review-of-the-literature
#7
Ian A Grasso, Matthew R Blattner, Tyler Short, John W Downs
INTRODUCTION: Despite greater than 60,000 nonfatal firearm injuries per year in the United States, retained shrapnel is a relatively rare cause of systemic lead toxicity with less than 100 cases reported in the medical literature since 1867. While intra-articular retained shrapnel as a cause of lead toxicity is well-described, extra-articular fragments are less well known to cause symptomatic disease. CASE REPORT: A 31-year-old man initially presented with abdominal pain, constipation, jaundice, and elevated liver transaminases approximately 3 weeks after suffering a left lower extremity injury during athletic activity...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28289812/the-icm-research-agenda-on-intensive-care-unit-acquired-weakness
#8
Nicola Latronico, Margaret Herridge, Ramona O Hopkins, Derek Angus, Nicholas Hart, Greet Hermans, Theodore Iwashyna, Yaseen Arabi, Giuseppe Citerio, E Wesley Ely, Jesse Hall, Sangeeta Mehta, Kathleen Puntillo, Johannes Van den Hoeven, Hannah Wunsch, Deborah Cook, Claudia Dos Santos, Gordon Rubenfeld, Jean-Louis Vincent, Greet Van den Berghe, Elie Azoulay, Dale M Needham
We present areas of uncertainty concerning intensive care unit-acquired weakness (ICUAW) and identify areas for future research. Age, pre-ICU functional and cognitive state, concurrent illness, frailty, and health trajectories impact outcomes and should be assessed to stratify patients. In the ICU, early assessment of limb and diaphragm muscle strength and function using nonvolitional tests may be useful, but comparison with established methods of global and specific muscle strength and physical function and determination of their reliability and normal values would be important to advance these techniques...
March 13, 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/28286494/clinical-practice-evidence-based-recommendations-for-the-treatment-of-cervical-dystonia-with-botulinum-toxin
#9
REVIEW
Maria Fiorella Contarino, Joost Van Den Dool, Yacov Balash, Kailash Bhatia, Nir Giladi, Johannes H Koelman, Annemette Lokkegaard, Maria J Marti, Miranda Postma, Maja Relja, Matej Skorvanek, Johannes D Speelman, Evelien Zoons, Joaquim J Ferreira, Marie Vidailhet, Alberto Albanese, Marina A J Tijssen
Cervical dystonia (CD) is the most frequent form of focal dystonia. Symptoms often result in pain and functional disability. Local injections of botulinum neurotoxin are currently the treatment of choice for CD. Although this treatment has proven effective and is widely applied worldwide, many issues still remain open in the clinical practice. We performed a systematic review of the literature on botulinum toxin treatment for CD based on a question-oriented approach, with the aim to provide practical recommendations for the treating clinicians...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28285487/load-carriage-related-paresthesias-part-2-meralgia-paresthetica
#10
Joseph J Knapik, Katy Reynolds, Robin Orr, Rodney Pope
This is the second of a two-part series addressing symptoms, evaluation, and treatment of load carriage- related paresthesias. Part 1 addressed rucksack palsy and digitalgia paresthetica; here, meralgia paresthetica (MP) is discussed. MP is a mononeuropathy involving the lateral femoral cutaneous nerve (LFCN). MP has been reported in load carriage situations where the LFCN was compressed by rucksack hipbelts, pistol belts, parachute harnesses, and body armor. In the US military, the rate of MP is 6.2 cases/10,000 personyears...
2017: Journal of Special Operations Medicine: a Peer Reviewed Journal for SOF Medical Professionals
https://www.readbyqxmd.com/read/28284832/prolonged-inhibition-of-inflammation-in-osteoarthritis-by-triamcinolone-acetonide-released-from-a-polyester-amide-microsphere-platform
#11
Imke Rudnik-Jansen, Sascha Colen, Julien Berard, Saskia Plomp, Ivo Que, Mattie van Rijen, Nina Woike, Annelies Egas, Gerjo van Osch, Erik van Maarseveen, Ken Messier, Alan Chan, Jens Thies, Laura Creemers
Controlled biomaterial-based corticosteroid release might circumvent multiple injections and the accompanying risks, such as hormone imbalance and muscle weakness, in osteoarthritic (OA) patients. For this purpose, microspheres were prepared from an amino acid-based polyester amide (PEA) platform and loaded with triamcinolone acetonide (TAA). TAA loaded microspheres were shown to release TAA for over 60days in PBS. Furthermore, the bioactivity lasted at least 28days, demonstrated by a 80-95% inhibition of PGE2 production using TNFα-stimulated chondrocyte culture, indicating inhibition of inflammation...
March 9, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/28277469/correlation-between-transperineal-3-dimensional-ultrasound-measurements-of-levator-hiatus-and-female-sexual-function
#12
Serdar Aydin, Rabia Zehra Bakar, Çağri Arioğlu Aydin, Seda Ateş
OBJECTIVE: The aim of this study is to investigate the association of sexual functions with levator hiatus biometry measurements and levator ani muscle defect. METHODS: In 62 heterosexual, sexually active premenopausal women without pelvic floor disorders or urinary incontinence, 3-dimensional transperineal ultrasound imaging was used. Two 3-dimensional volumes were recorded, one at rest and one on Valsalva maneuver. Levator biometry measurements and levator defect were evaluated in an axial plane...
March 9, 2017: Female Pelvic Medicine & Reconstructive Surgery
https://www.readbyqxmd.com/read/28261436/orthopedic-manifestations-of-type-i-camurati-engelmann-disease
#13
Alisher J Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Jong Hee Chae, Won Joon Yoo, In Ho Choi, Ok Hwa Kim, Tae-Joon Cho
BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS: We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course...
March 2017: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/28248883/primary-leiomyosarcoma-of-the-spine-a-case-report-and-literature-review
#14
REVIEW
Yi Yang, Litai Ma, Lingli Li, Hao Liu
RATIONALE: Primary leiomyosarcoma of the bone was firstly reported by Evans and Sanerkin in 1965, whereas primary leiomyosarcoma of the vertebra is extremely rare. Because of the rarity of primary vertebral leiomyosarcoma, the diagnosis, treatment, and clinical outcome still remain controversial. Here we report a special case of primary leiomyosarcoma in the thoracic vertebra. PATIENT CONCERNS: A 47-year-old female patient was admitted to our institution with the chief complaint of persistent back pain for 4 weeks...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28235546/non-traumatic-rhabdomyolysis-background-laboratory-features-and-acute-clinical-management
#15
REVIEW
Gianfranco Cervellin, Ivan Comelli, Mario Benatti, Fabian Sanchis-Gomar, Antonella Bassi, Giuseppe Lippi
Rhabdomyolysis is a relatively rare condition, but its clinical consequences are frequently dramatic in terms of both morbidity and mortality. Although no consensus has been reached so far about the precise definition of this condition, the term rhabdomyolysis describes a rapid breakdown of striated, or skeletal, muscle. It is hence characterized by the rupture and necrosis of muscle fibers, resulting in release of cell degradation products and intracellular elements within the bloodstream and extracellular space...
February 21, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28222455/muscle-cramps-pain-%C3%A2-weakness-%C3%A2-muscle-twitching-%C3%A2-dx
#16
Sommer Aldulaimi
A 39-year-old man who worked in construction presented to our clinic with complaints of muscle cramps and muscle pain that had been bothering him for several months. The cramps and pain started in both of his arms and subsequently became diffuse and generalized. He also reported an unintentional 15-pound weight loss.
February 2017: Journal of Family Practice
https://www.readbyqxmd.com/read/28217165/headband-sign-on-magnetic-resonance-imaging-an-unusual-finding-of-scurvy-in-a-5-year-old-child-described-first-time
#17
Umesh I Patel, Jayendra R Gohil, Alpa N Parekh, Hardik R Chauhan
Scurvy usually presents with tender and painful limbs, swelling of joints, gum bleeding, poor wound healing, and muscle weakness. Here, we report a case of 5-year-old child with global developmental delay who presented with soft swelling of the head over scalp and protrusion of the left eye with extremely irritability. Neuroimaging was suggestive of diffuse extensive soft-tissue swelling involving the entire scalp with large necrotic collections with mild proptosis of the left orbit. It is not mentioned elsewhere, so we are giving name to this magnetic resonance imaging finding as "headband" sign or "turban" sign...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28215966/does-patient-perception-differ-following-adductor-canal-block-and-femoral-nerve-block-in-total-knee-arthroplasty-a-simultaneous-bilateral-randomized-study
#18
Hyun J Koh, In J Koh, Man S Kim, Keun Y Choi, Hyeon U Jo, Yong In
BACKGROUND: Femoral nerve block (FNB) has been used as part of the multimodal analgesia after total knee arthroplasty (TKA), but leads to weakness in the quadriceps muscles. Recently, adductor canal block (ACB) was reported to provide effective pain relief while sparing the strength of the quadriceps. This simultaneous bilateral randomized study investigated whether patients perceived differences between ACB and the FNB after same-day bilateral TKA. METHODS: We performed a prospective simultaneous bilateral randomized study in 50 patients scheduled to undergo same-day bilateral TKA...
January 26, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28214267/a-japanese-male-with-a-novel-ano5-mutation-with-minimal-muscle-weakness-and-muscle-pain-till-his-late-fifties
#19
Masato Kadoya, Katsuhisa Ogata, Mikiya Suzuki, Yutaka Honma, Kazunari Momma, Kana Yatabe, Takuhisa Tamura, Kenichi Kaida, Naomasa Miyata, Ichizo Nishino, Ikuya Nonaka, Mitsuru Kawai
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase (CK) level for more than 10 years with minimal muscular symptoms consisting of muscle stiffness and occasional cramps, preceding the onset of proximal limb weakness...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28207658/association-between-paraspinal-muscle-morphology-clinical-symptoms-and-functional-status-in-patients-with-degenerative-cervical-myelopathy
#20
Maryse Fortin, Octavian Dobrescu, Matthew Courtemanche, Carolyn J Sparrey, Carlo Santaguida, Michael G Fehlings, Michael H Weber
STUDY DESIGN: A cross-sectional study. OBJECTIVE: The aim of this study was to assess fatty infiltration and asymmetry of the multifidus (MF), semispinalis cervicis (SCer), semispinalis capitis (SCap), and splenius capitis (SPL) muscles in patients with degenerative cervical myelopathy (DCM), and evaluate their correlations with clinical symptoms and functional scores. SUMMARY OF BACKGROUND DATA: Cervical muscle alterations have been reported in patients with chronic neck pain, but the assessment of cervical muscle morphology has been overlooked in patients with DCM...
February 15, 2017: Spine
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