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https://www.readbyqxmd.com/read/29997197/a-family-based-study-into-penetrance-in-facioscapulohumeral-muscular-dystrophy-type-1
#1
Mariëlle Wohlgemuth, Richard J Lemmers, Marianne Jonker, Elly van der Kooi, Corinne G Horlings, Baziel G van Engelen, Silvere M van der Maarel, George W Padberg, Nicol C Voermans
OBJECTIVE: An observational cross-sectional study was conducted in a national facioscapulohumeral muscular dystrophy (FSHD) expertise center to estimate the penetrance of FSHD1 and to evaluate phenotype-genotype correlations. METHODS: Ten FSHD1 probands carrying 4-9 D4Z4 unit alleles and 140 relatives were examined. All 150 participants were genetically characterized, including D4Z4 methylation levels in the mutation carriers. Mutation carriers were classified as (1) symptomatic: with symptoms of muscle weakness on history and muscle FSHD signs on examination; (2) asymptomatic: without symptoms of muscle weakness but with muscle FSHD signs on examination; and (3) nonpenetrant: without symptoms of muscle weakness on history and without muscle FSHD signs on examination...
July 11, 2018: Neurology
https://www.readbyqxmd.com/read/29989879/unusual-manifestations-of-secondary-syphilis-case-presentations
#2
Sorina Ana Dănescu, Blanca Szolga, Carmen Georgiu, Alina Surcel, Simona Corina Corina Șenilă
Dear Editor, Syphilis is an infection caused by Treponema pallidum. Without treatment, it goes through the following stages: primary, secondary, latent, and tertiary (1). The clinical picture of secondary syphilis is very variable (2,3). We present two rare cases of secondary syphilis, one with nodular lesions initially considered to be lymphoma and second with periostitis, which was initially interpreted as an osteoma. To date, only 15 cases with nodular lesions and 10 cases with periostitis in secondary syphilis have been reported in the literature...
June 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29985377/-on-the-history-of-the-problem-of-the-rehabilitative-treatment-of-the-subjects-suffering-wounds-in-the-maxillofacial-region-with-the-concomitant-disorders-of-the-speech-function
#3
T N Karpova, G S Chepik, N A Sokolovich, I K Soldatov
The authors made an attempt to highlight the issues of rehabilitation of the patients suffering wounds in the maxillofacial region with the concomitant disorders in the function of the organs of speech. The secondary objective of the study was to prove that rehabilitation of such patients is possible only by means of the joint efforts and close cooperation of dentists, physiotherapists, and speech therapists. The results of the clinical observations of the most severe cases of the impaired speech function obtained in the evacuation hospitals have been considered, with the special emphasis placed on the leading role of the speech therapist in the rehabilitation of such patients...
2018: Voprosy Kurortologii, Fizioterapii, i Lechebnoĭ Fizicheskoĭ Kultury
https://www.readbyqxmd.com/read/29984024/subscapular-abscess-caused-by-panton-valentine-leukocidin-positive-staphylococcus-aureus-an-atypical-presentation
#4
Kamal Patel, Emma Spowart, Dana Sochorova, Nadia Diego, Georgios Mamarelis, Mohammad Zain Sohail
Subscapular abscess is an uncommon condition which requires early recognition followed by prompt surgical intervention. We present a case of spontaneous subscapular abscess following blunt trauma to the shoulder in a patient with a history of recurrent superficial soft tissue infections, in which Panton-Valentine leukocidin-producing S. aureus was identified as the infectious agent. This strain due to its virulence can lead to fatal infections in otherwise healthy individuals; therefore, a high index of suspicion is needed to investigate with an MRI to rule out abscess formation in a patient with acute shoulder girdle pain and negative joint aspirate...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29959501/the-peregrine-falcon-s-rapid-dive-on-the-adaptedness-of-the-arm-skeleton-and-shoulder-girdle
#5
Anke Schmitz, Nele Ondreka, Julia Poleschinski, Dominik Fischer, Helmut Schmitz, Adrian Klein, Horst Bleckmann, Christoph Bruecker
During a dive, peregrine falcons (Falco peregrinus) can reach a velocity of up to 320 km h- 1 . Our computational fluid dynamics simulations show that the forces that pull on the wings of a diving peregrine can reach up to three times the falcon's body mass at a stoop velocity of 80 m s- 1 (288 km h- 1 ). Since the bones of the wings and the shoulder girdle of a diving peregrine falcon experience large mechanical forces, we investigated these bones. For comparison, we also investigated the corresponding bones in European kestrels (Falco tinnunculus), sparrow hawks (Accipiter nisus) and pigeons (Columba livia domestica)...
June 29, 2018: Journal of Comparative Physiology. A, Neuroethology, Sensory, Neural, and Behavioral Physiology
https://www.readbyqxmd.com/read/29933094/phenol-neurolysis-for-management-of-shoulder-spasticity-in-early-recovery-from-traumatic-brain-injury-a-case-report
#6
Manuel F Mas, Craig DiTommaso, Sheng Li
This case describes a 16-year-old boy who suffered a severe traumatic brain injury. The patient gradually recovered but developed debilitating spasticity mainly in left triceps muscle, abnormal positioning of shoulder girdle complex, and shoulder pain. Phenol (6%) was injected to axillary and radial nerves under guidance of electrical stimulation and ultrasound imaging at 10 weeks after initial injury. After injection, triceps spasticity and shoulder pain was immediately reduced and abnormal positions of shoulder girdle complex and elbow joint gradually returned to functional limits over 2 weeks...
June 19, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29885723/effects-of-standing-on-typing-task-performance-and-upper-limb-discomfort-vascular-and-muscular-indicators
#7
Larissa M Fedorowich, Julie N Côté
Standing is a popular alternative to traditionally seated computer work. However, no studies have described how standing impacts both upper body muscular and vascular outcomes during a computer typing task. Twenty healthy adults completed two 90-min simulated work sessions, seated or standing. Upper limb discomfort, electromyography (EMG) from eight upper body muscles, typing performance and neck/shoulder and forearm blood flow were collected. Results showed significantly less upper body discomfort and higher typing speed during standing...
October 2018: Applied Ergonomics
https://www.readbyqxmd.com/read/29883935/an-electromyography-study-of-muscular-endurance-during-the-posterior-shoulder-endurance-test
#8
Neil A Evans, Emily Dressler, Tim Uhl
The primary purpose was to determine if there is a difference between the median frequency slopes of 5 posterior shoulder muscles during the initial portion of the Posterior Shoulder Endurance Test (PSET) at the 90° and 135° shoulder abduction positions. Fifty-five healthy volunteers (31 females) participated. The median frequency of the posterior deltoid (PD), upper trapezius (UT), middle trapezius (MT), lower trapezius (LT), and infraspinatus (INF) was measured during the PSET at 90° and 135° of shoulder abduction...
May 31, 2018: Journal of Electromyography and Kinesiology
https://www.readbyqxmd.com/read/29881221/mcardle-s-disease-a-differential-diagnosis-of-idiopathic-toe-walking
#9
David Pomarino, Stephan Martin, Andrea Pomarino, Stefanie Morigeau, Saskia Biskup
Idiopathic toe walking (ITW) is a pathological gait pattern in which children walk on their tip toes with no orthopedic or neurological reason. Physiological characteristics of the gastrocnemius muscles, the Achilles tendon, and the foot of toe walkers differ from subjects with a plantigrade walking pattern. McArdle's disease is characterized by the inability to break down muscle glycogen. It is an autosomal-recessive condition, characterized by low exercise tolerance, muscular atrophy at the shoulder girdle, episodes of myoglobinuria after vigorous physical activities and the occurrence of the second wind phenomenon...
June 2018: Journal of Orthopaedics
https://www.readbyqxmd.com/read/29863705/-therapy-of-myofascial-pain-syndrome-face-with-thioctic-acid
#10
O A Shavlovskaya, N M Fokina
Authors present a case-report of a 36-year-old patient with pain syndrome in the face region (craniomandibular dysfunction with occlusive disorders) involving pericranial muscles and shoulder girdle muscles. Thioctic acid was prescribed as a basic therapy, and relaxation tire, mimic gymnastics, post-isometric relaxation, vitamin and mineral complex were additionally used. Thioctic acid was prescribed according to the following scheme: stage I - intravenous injections of thioctic acid (600 mg/daily, 5 procedures, every other day); stage II - oral administration of the drug in the dose of 600 mg/daily for 3 months...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29801707/prevalence-and-anatomy-of-the-axillary-arch-and-its-implications-in-surgical-practice-a-meta-analysis
#11
Dominik Taterra, Brandon Michael Henry, Michał P Zarzecki, Beatrice Sanna, Przemysław A Pękala, Roberto Cirocchi, Jerzy A Walocha, R Shane Tubbs, Krzysztof A Tomaszewski
PURPOSE: The following research aimed to investigate the prevalence and anatomical features of the axillary arch (AA) - a muscular, tendinous or musculotendinous slip arising from the latissimus dorsi and that terminates in various structures around the shoulder girdle. The AA may complicate axillary lymph node biopsy or breast reconstruction surgery and may cause thoracic outlet syndrome. METHODS: Major electronic databases were thoroughly searched for studies on the AA and its variations...
May 22, 2018: Surgeon: Journal of the Royal Colleges of Surgeons of Edinburgh and Ireland
https://www.readbyqxmd.com/read/29793122/intra-and-interrater-reliability-of-the-lumbar-locked-thoracic-rotation-test-in-competitive-swimmers-ages-10-through-18-years
#12
Stef Feijen, Kevin Kuppens, Angela Tate, Isabel Baert, Thomas Struyf, Filip Struyf
OBJECTIVES: Measuring thoracic spine mobility can be of interest to competitive swimmers as it has been associated with shoulder girdle function and scapular position in subjects with and without shoulder pain. At present, no reliability data of thoracic spine mobility measurements are available in the swimming population. This study aims to evaluate the within-session intra- and interrater reliability of the "lumbar-locked rotation test" for thoracic spine rotation in competitive swimmers aged 10 to 18 years...
July 2018: Physical Therapy in Sport
https://www.readbyqxmd.com/read/29769835/correlations-between-angular-velocities-in-selected-joints-and-velocity-of-table-tennis-racket-during-topspin-forehand-and-backhand
#13
Ziemowit Bańkosz, Sławomir Winiarski
The aim of this study was to determine the correlations between angular velocities in individual joints and racket velocity for different topspin forehand and backhand strokes in table tennis. Ten elite female table tennis players participated, presenting different kinds of topspin forehands and backhands - after a no-spin ball (FH1, BH1), after a backspin ball (FH2, BH2) and "heavy" topspin (FH3, BH3). Range of motion was measured with the BTS Smart-E (BTS Bioengineering, Milan, Italy) motion analysis system with a specially developed marker placement protocol for the upper body parts and an acoustic sensor attached to the racket to identify ball-racket contact...
June 2018: Journal of Sports Science & Medicine
https://www.readbyqxmd.com/read/29761537/scapular-upward-rotator-morphologic-characteristics-in-individuals-with-and-without-forward-head-posture-a-case-control-study
#14
Fariba Khosravi, Anneli Peolsson, Noureddin Karimi, Leila Rahnama
OBJECTIVES: There are several reports suggesting that forward head posture contributes to alterations in scapular kinematics and muscle activity, leading to the development of shoulder problems. Currently, it is unknown whether forward head posture alters the thickness of the scapular muscles. The aim of this study was to compare the thickness of the serratus anterior and upper and lower trapezius muscles at rest and during loaded isometric contractions in individuals with and without forward head posture...
May 15, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29759126/primary-care-vasculitis-polymyalgia-rheumatica-and-giant-cell-arteritis
#15
REVIEW
Mathilde H Pioro
Polymyalgia rheumatica (PMR) and giant cell arteritis (GCA) are related inflammatory diseases of adults aged 50 years or older. The diagnosis of PMR is based on morning stiffness, proximal shoulder and pelvic girdle pain, and functional impairment. GCA is characterized by headache, jaw claudication, and visual disturbances. Constitutional symptoms and elevated inflammatory markers are common to both conditions. Temporal artery biopsy remains the gold standard for diagnosis of GCA. Glucocorticoids are the cornerstone of therapy, with tapering regimens individualized to the patient...
June 2018: Primary Care
https://www.readbyqxmd.com/read/29729752/editorial-commentary-the-coracoid-process-as-the-origin-of-several-ligaments-what-may-be-cut-what-must-be-refixed
#16
EDITORIAL
Julian Mehl, Daichi Morikawa, Augustus D Mazzocca
The coracoid process is the origin of the trapezoid ligament, the deltoid ligament, and the coracoacromial ligament (CAL). Detailed knowledge about their anatomy is crucial for surgical procedures such as the reconstruction of the coracoclavicular ligaments or coracoid transfer. Although the coracoclavicular ligaments are considered important stabilizers of the acromioclavicular joint and are therefore highly protected, the CAL seems less important, which is why it is generally cut during coracoid transfer procedures...
May 2018: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/29707680/osteological-development-of-the-larvae-and-juvenile-of-bullhead-torrent-catfish-liobagrus-obesus
#17
Won-Il Seo, Jae-Min Park, Sung-Hun Lee, Seong Min Yoon, Seon-Yeong Hwang, Kyeong-Ho Han
This study was conducted to investigate the skeletal development of bullhead torrent catfish, Liobagrus obesus larvae and to utilize them as basic data for the taxonomic study of Liobagrus larvae. Skeletal development was observed by being divided into cranium, visceral skeleton, shoulder girdle bone, pelvic girdle bone and vertebra. On the first day after hatching, the pre-larvae had an average total length of 7.92 mm, and a line-shaped parasphenoid ossified in the cranium. In the jaw bone, the dentary supporting the lower jaw and the maxillary supporting the upper jaw were ossified...
March 2018: Balsaeng'gwa Saengsig
https://www.readbyqxmd.com/read/29707289/fractures-of-the-manubrium-sterni-treatment-options-and-a-possible-classification-of-different-types-of-fractures
#18
Stefan Schulz-Drost, Sebastian Krinner, Pascal Oppel, Sina Grupp, Melanie Schulz-Drost, Friedrich F Hennig, Andreas Langenbach
Background: Sternum fractures are mostly located on the sternal corpus, seldom on the manubrium. Fractures of the sternal manubrium are, however, more frequently associated with severe concomitant injuries of thoracic organs, and therefore deserve special attention. In addition, in its function as a capstone in between the anterior chest wall and the shoulder girdle, it is exposed to a multiplicity of forces. Therefore the questions arise what types of fractures are observed in today's clinical practice, how to classify them and which treatment options are available...
March 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29686485/a-pragmatic-regional-interdependence-approach-to-primary-frozen-shoulder-a-retrospective-case-series
#19
Christopher Kevin Wong, Bryanna L Strang, Galen A Schram, Elizabeth A Mercer, Rebecca S Kesting, Kabi S Deo
Objectives: Although the shoulder is known to move together with the scapula and other upper quarter joints, the current frozen shoulder clinical practice guidelines describe only physical therapy study treatments directed to the shoulder. None received a strong recommendation, highlighting the need for alternate interventions. This retrospective case series describes a pragmatic regional interdependence approach to frozen shoulder with impairment and functional outcomes, noting whether final ROM approached normal...
May 2018: Journal of Manual & Manipulative Therapy
https://www.readbyqxmd.com/read/29681087/autosomal-recessive-otofaciocervical-syndrome-type-2-with-novel-homozygous-small-insertion-in-pax1-gene
#20
Siddaramappa Jagdish Patil, Aneek Das Bhowmik, Venkatraman Bhat, Venugopal Satidevi Vineeth, Rashmi Vasudevamurthy, Ashwin Dalal
Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive inheritance. The major clinical features of OTFCS include ear malformations (external/middle/inner ear), facial dysmorphism, shoulder girdle abnormalities, vertebral anomalies, and mild intellectual disability. The autosomal recessive form of OTFCS syndrome (OTFCS2) has been recently reported to be caused due to homozygous mutations in PAX1 gene. Here we report a third family of OTFCS2 phenotype wherein whole exome sequencing identified a novel homozygous small insertion in PAX1 as the underlying genetic cause...
May 2018: American Journal of Medical Genetics. Part A
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