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https://www.readbyqxmd.com/read/29350460/three-generation-family-with-novel-contiguous-gene-deletion-on-chromosome-2p22-associated-with-thoracic-aortic-aneurysm-syndrome
#1
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, Yiping Shen, Michael N Singh, Pankaj B Agrawal, Sharon E Smith
Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings...
January 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29320937/radiographic-measurements-associated-with-the-natural-progression-of-the-hallux-valgus-during-at-least-2-years-of-follow-up
#2
Seung Yeol Lee, Chin Youb Chung, Moon Seok Park, Ki Hyuk Sung, Sonya Ahmed, Seungbum Koo, Dong-Wan Kang, Kyoung Min Lee
BACKGROUND: This study aimed to investigate the radiographic measurements associated with the progression of hallux valgus during at least 2 years of follow-up. METHODS: Seventy adult patients with hallux valgus who were followed for at least 2 years and underwent weightbearing foot radiography were included. Radiographic measurements included the hallux valgus angle (HVA), hallux interphalangeal angle, intermetatarsal angle (IMA), metatarsus adductus angle, distal metatarsal articular angle (DMAA), tibial sesamoid position, anteroposterior (AP) talo-first metatarsal angle, and lateral talo-first metatarsal angle...
January 1, 2018: Foot & Ankle International
https://www.readbyqxmd.com/read/29303366/current-clinical-radiological-and-treatment-perspectives-of-patellofemoral-pain-syndrome
#3
Aishwarya Gulati, Christopher McElrath, Vibhor Wadhwa, Jay P Shah, Avneesh Chhabra
Anterior knee pain in active young adults is commonly related to patellofemoral (PF) pain syndrome (PFPS), which can be broadly classified into patellar malalignment and patellar maltracking. PFPS can be caused by a host of miserable malalignments, such as excessive femoral antetorsion, tibial varus / external rotation, knee valgus and pes planus. Radiographic, CT and MRI evaluations are commonly obtained to further elucidate the malalignment and maltracking abnormalities and exclude other related differentials, such as lateral meniscus tear, extensor tendon tear, anterior tenosynovial giant cell tumor and plica syndrome...
January 5, 2018: British Journal of Radiology
https://www.readbyqxmd.com/read/29247970/comprehensive-biomechanical-characterization-of-feet-in-usma-cadets-comparison-across-race-gender-arch-flexibility-and-foot-types
#4
Jinsup Song, Kersti Choe, Michael Neary, Rebecca A Zifchock, Kenneth L Cameron, Michael Trepa, Marian T Hannan, Howard Hillstrom
Lower extremity musculoskeletal injuries are common, complex, and costly problems. Literature supports associations between static foot structure and dynamic foot function, as well as between overuse injury and demographic characteristics. Previous studies failed to provide a comprehensive biomechanical foot characteristics of at-risk military personnel. In this study, foot structure, function, and arch height flexibility (AHF) were objectively measured in 1090 incoming cadets (16.3% female, mean age of 18...
December 6, 2017: Gait & Posture
https://www.readbyqxmd.com/read/29209412/minor-physical-anomalies-in-neurodevelopmental-disorders-a-twin-study
#5
Lynnea Myers, Britt-Marie Anderlid, Ann Nordgren, Charlotte Willfors, Ralf Kuja-Halkola, Kristiina Tammimies, Sven Bölte
Background: Minor physical anomalies (MPAs) are subtle anatomical deviations in one's appearance and may suggest altered embryogenesis. MPAs have been shown to be more common in neurodevelopmental disorders (NDDs) compared with typical development. Still, further studies are needed on MPAs in NDDs, especially using twins to adjust for confounding familial factors. Methods: Clinical assessments were conducted on 116 twins (61 NDD, 55 controls) from 51 monozygotic and 7 dizygotic pairs to examine MPAs and their association with DSM-5 defined NDDs...
2017: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/29207819/effect-of-rocker-soled-shoe-design-on-walking-economy-in-females-with-pes-planus
#6
Manvi Dhyani, Deepika Singla, Irshad Ahmad, M Ejaz Hussain, Kamran Ali, Shalini Verma
Introduction: The energy cost is increased during walking in pes planus condition whereas, energy cost during walking using rocker bottom shoes is debatable. Aim: To determine the walking economy with rocker soled shoes, when compared with bare feet walking in females with pes planus over treadmill. Materials and Methods: Seventeen collegiate flat footed females aged 18-25 years were recruited in accordance with inclusion and exclusion criteria...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29182114/assessment-of-the-medial-longitudinal-arch-in-children-with-flexible-pes-planus-by-plantar-pressure-mapping
#7
E M Elmoatasem, M A Eid
INTRODUCTION: Plantar Pressure mapping was introduced as a new modality for assessment of the height of the medial longitudinal arch of the foot. Therefore, the aim of this study is to correlate the plantar pressure mapping readings of arch index contact force ratio (AICFR) in children with flexible pes planus with radiographic measurements and static plantar footprints in order to determine the reliability of pressure mapping as a modality for the assessment and follow up of the flat foot deformity...
December 2016: Acta Orthopaedica Belgica
https://www.readbyqxmd.com/read/29144991/finite-element-simulation-on-posterior-tibial-tendinopathy-load-transfer-alteration-and-implications-to-the-onset-of-pes-planus
#8
Duo Wai-Chi Wong, Yan Wang, Aaron Kam-Lun Leung, Ming Yang, Ming Zhang
BACKGROUND: Posterior tibial tendinopathy is a challenging foot condition resulting in pes planus, which is difficult to diagnose in the early stage. Prior to the deformity, abnormal internal load transfer and soft tissue attenuation are anticipated. The objective of this study was to investigate the internal load transfer and strain of the ligaments with posterior tibial tendinopathy, and the implications to pes planus and other deformities. METHODS: A three-dimensional finite element model of the foot and ankle was reconstructed from magnetic resonance images of a 28-year-old normal female...
November 3, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/29130734/the-rare-lateral-cuneo-cuboid-coalition-a-case-report
#9
Kevin Renner, Eric So, Amanda Quisno, Daniel Logan
BACKGROUND: Tarsal coalitions typically occur at the talocalcaneal or calcaneonavicular joints. Common findings are pain, limited range of motion, and a pes planus deformity. METHODS: The focus of this case report will include the presentation, imaging, treatment, and outcomes for a 21-year-old female diagnosed with a rare lateral cuneo-cuboid coalition with chronic pain. Clinical and radiographic examinations, typically utilized to diagnose the common coalition, were unremarkable...
November 13, 2017: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/29021827/coordination-among-the-rearfoot-midfoot-and-forefoot-during-walking
#10
Tomoya Takabayashi, Mutsuaki Edama, Emi Nakamura, Erika Yokoyama, Chiaki Kanaya, Masayoshi Kubo
BACKGROUND: Examining coordination between segments is essential for prevention and treatment of injuries. However, traditional methods such as ratio, cross-correlation technique, and angle-time plot may not provide a complete understanding of intersegmental coordination. The present study aimed to quantify the coordination among the rearfoot, midfoot, and forefoot segments during walking. METHODS: Twenty healthy young men walked barefoot on a treadmill. Reflective markers were fixed to their right shank and foot based on the Leardini foot model...
2017: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/28934734/correlation-between-foot-arch-index-and-intensity-of-foot-knee-and-low-back-pain-among-pregnant-women-in-a-south-eastern-nigerian-community
#11
Chidiebele Petronilla Ojukwu, Emeka Godson Anyanwu, Ginika Gladys Nwafor
OBJECTIVES: To assess the arch height index of pregnant women and its correlation with foot pain, anterior knee pain and low back pain. SUBJECTS AND METHODS: Two hundred and fifteen (215) consenting pregnant women participated in this cross-sectional study. Arch height index was assessed from their foot prints while pain intensity was rated on a numerical pain rating scale. Data was summarized with descriptive statistics and Pearson's correlation was used to determine correlations between the variables at p<0...
September 19, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/28925669/lower-extremity-abnormalities-in-children
#12
Caitlyn M Rerucha, Caleb Dickison, Drew C Baird
Leg and foot problems in childhood are common causes of parental concern. Rotational problems include intoeing and out-toeing. Intoeing is most common in infants and young children. Intoeing is caused by metatarsus adductus, internal tibial torsion, and femoral anteversion. Out-toeing is less common than intoeing and occurs more often in older children. Out-toeing is caused by external tibial torsion and femoral retroversion. Angular problems include genu varum (bowleg) and genu valgum (knock knee). With pes planus (flatfoot), the arch of the foot is usually flexible rather than rigid...
August 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/28818476/complex-anatomic-abnormalities-of-the-lower-leg-muscles-and-tendons-associated-with-phocomelia-a-case-report
#13
Thomas Hodo, Mark Hamrick, Yulia Melenevsky
Musculoskeletal anatomy is widely known to have components that stray from the norm in the form of variant muscle and tendon presence, absence, origin, insertion, and bifurcation. Although these variant muscles and tendons might be deemed incidental and insignificant findings by most, they can be important contributors to pathologic physiology or, more importantly, an option for effective treatment. In the present case report, we describe a patient with phocomelia and Müllerian abnormalities secondary to in utero thalidomide exposure...
November 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28764143/prevalence-of-flexible-flat-foot-in-adults-a-cross-sectional-study
#14
Ashok Aenumulapalli, Manoj Mohan Kulkarni, Achleshwar Ramnarain Gandotra
INTRODUCTION: Flat foot (pes planus) is a commonly observed disorder in clinical practice. The height of Medial Longitudinal Arch (MLA) determines the degree of pes planus. Majority of the previous studies on prevalence of flexible flat foot were done among children. AIM: The present study was undertaken to determine the prevalence of flexible flat foot among 18-21-year-old Indian adults using Navicular Drop Test (NDT) which is regarded as reliable and valid method to characterise MLA...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28738883/recurrent-c-g1636a-p-g546s-mutation-of-col2a1-in-a-chinese-family-with-skeletal-dysplasia-and-different-metaphyseal-changes-a-case-report
#15
Jing Chen, Xiaomin Ma, Yulin Zhou, Guimei Li, Qiwei Guo
BACKGROUND: Mutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. Most COL2A1 mutations located in the triple-helical region, and the glycine to bulky amino acid substitutions (e.g., glycine to serine) in the Gly-X-Y repeat were identified frequently. However, the same COL2A1 mutations are associated with different phenotypes and the genotype-phenotype relationship is still poorly understood. Therefore, the studies of more patients about the recurrent mutations in COL2A1 will be needed for further research to provide more comprehensive clinical and genetic data...
July 24, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28617260/pes-planus-and-pes-cavus-in-southern-italy-a-5-years-study
#16
Gianmarco Troiano, Nicola Nante, Guglielmo Lucio Citarelli
INTRODUCTION: Baropodometrical digital techniques map the pressures exerted on the foot plant during both static and dynamic loadings. The study of the distribution of such pressures makes it possible to evaluate the postural and locomotory biomechanics together with its pathological variations. METHODS: From January 2011 to August 2016 we conducted a cross sectional study in order to diagnose flatfoot and hollowfoot through the baropodometric analysis, and collecting additional information such as gender and the age...
April 2017: Annali Dell'Istituto Superiore di Sanità
https://www.readbyqxmd.com/read/28503539/differences-in-pes-planus-and-pes-cavus-subtalar-eversion-inversion-before-and-after-prolonged-running-using-a-two-dimensional-digital-analysis
#17
Charlotte Sinclair, Ulla Svantesson, Rita Sjöström, Marie Alricsson
In sports, there is a constant discussion about the hyper-pronation and supination of the foot during loading and its relation to injuries or discomfort. The purpose of the present study was to investigate the possible differences in the subtalar joint in the midstance phase of running, between individuals with Pes Planus and Pes Cavus, after 5 min and 45 min of running. Thirty-four subjects, meeting the requirements for Pes Planus (30 feet) and Pes Cavus (35 feet), according to the criteria for Medial Longitudinal Arch-angle, were included in the study...
April 2017: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/28502349/total-ankle-replacement-in-the-presence-of-talar-varus-or-valgus-deformities
#18
REVIEW
Andrew Dodd, Timothy R Daniels
Patients presenting with end-stage ankle arthritis with coronal plane talar deformities have a variety of complex multidirectional deformities that require careful preoperative assessment and a clear understanding of the pathophysiology. Surgeons managing these patients with total ankle arthroplasty need to be familiar with extra-articular and intra-articular surgical methods to correct pes planus and pes cavus deformities, including bony procedures and soft tissue procedures. Performing these procedures in 1 or 2 stages depends on surgeon preference and the severity of the deformities...
June 2017: Foot and Ankle Clinics
https://www.readbyqxmd.com/read/28476392/gastrocnemius-recession-leads-to-increased-ankle-motion-and-improved-patient-satisfaction-after-2-years-of-follow-up
#19
Julia Alessandra Holtmann, Norbert P Südkamp, Hagen Schmal, Alexander T Mehlhorn
The isolated gastrocnemius contracture present in neurologic healthy patients results in a significant limitation of ankle dorsiflexion causing pathologic gait patterns and a greater risk of further foot disorders. Gastrocnemius recession is an established procedure to increase ankle dorsiflexion. However, little evidence is available of the use of gastrocnemius recession in these patients. Complication rates, recurrence of gastrocnemius contracture, and the prevalence of additional foot disorders needs further evaluation...
May 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28442527/a-novel-fibrillin-1-gene-mutation-leading-to-marfan-syndrome-in-a-korean-girl
#20
Hyo-Kyoung Nam, Myung-Hyun Nam, Kee-Soo Ha, Young-Jun Rhie, Kee-Hyoung Lee
Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c...
March 2017: Annals of Clinical and Laboratory Science
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