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https://www.readbyqxmd.com/read/28509084/whole-exome-sequencing-identifies-a-novel-homozygous-frameshift-mutation-in-the-mtmr2-gene-as-a-causative-mutation-in-a-patient-with-charcot-marie-tooth-disease-type-4b1
#1
Tameemi Abdalla-Moady, Amir Peleg, Orit Sadeh, Khader Badarneh, Fuad Fares
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from whole blood leukocytes of affected family and normal subject. Whole-exome sequencing was performed using the Illumina HiSeq2500. The DNA region containing the identified mutation was amplified by PCR and sequenced using dye-terminator chemistry and the forward primer...
May 16, 2017: Molecular Neurobiology
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
#2
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
#3
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/28483396/early-diagnosis-of-capos-syndrome-before-acute-onset-ataxia-review-of-the-literature-and-a-new-family
#4
Anna Duat Rodriguez, Michaela Prochazkova, Saturnino Santos Santos, Oscar Rubio Cabezas, Veronica Cantarin Extremera, Luis Gonzalez-Gutierrez-Solana
BACKGROUND: CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward...
January 25, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28442207/tibio-talo-calcaneal-fusion-after-limb-salvage-procedures-a-retrospective-study
#5
Lukas Zak, Gerald E Wozasek
BACKGROUND: The treatment of limb threatening trauma on the distal tibia or hindfoot often results in posttraumatic osteoarthritis requiring tibiotalocalcaneal (TTC) arthrodesis. The purpose of this study was to present a case series of patients undergoing various techniques of joint fusion after bone reconstruction and deformity correction as a salvage procedure. The study should help trauma surgeons making decisions in limb salvage and deformity correction in complex lower leg and foot injuries by presenting options and treatment strategies...
April 15, 2017: Injury
https://www.readbyqxmd.com/read/28229324/corr-insights-%C3%A2-is-pes-cavus-alignment-associated-with-lisfranc-injuries-of-the-foot
#6
H Thomas Temple
No abstract text is available yet for this article.
May 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/28018685/coexistence-of-factor-vii-deficiency-and-hereditary-spastic-paraplegia-in-two-siblings
#7
Hortensia De la Corte-Rodriguez, E Carlos Rodriguez-Merchan, M Teresa Alvarez-Roman, Ana L Hernandez-Moreno
We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. They presented with fine motor symptoms and difficulty in walking. During physical examination we observed neurological symptoms (general hypotonia, muscular hypotrophy, exaggerated tendon reflexes, pes cavus, and spastic gait). Given that the symptoms were not justified by the deficiency of coagulation factor VII and on suspicion of hereditary spastic paraplegia (HSP), tests were carried out...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27908631/confirmation-of-the-gnb4-gene-as-causal-for-charcot-marie-tooth-disease-by-a-novel-de-novo-mutation-in-a-czech-patient
#8
Laššuthová Petra, Šafka Brožková Dana, Neupauerová Jana, Krůtová Marcela, Mazanec Radim, Seeman Pavel
The association of GNB4 with Charcot-Marie-Tooth (CMT) has recently been described in a publication by Soong et al. (Soong, et al., 2013). Here we present a patient with CMT in whom whole exome sequencing identified the mutation p.Lys57Glu in the GNB4 gene (NM_021629.3:c.169A>G). The patient, now 41 years old, is a sporadic case in the family. At the age of 35 he presented with severe disability (CMT neuropathy score 29), profound muscle atrophies, pes cavus and scoliosis. Previously, the patient was tested for PMP22 duplications/deletions and later also with 64 CMT gene panel, with no causal variant found...
September 22, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27884603/cranial-nerve-involvement-in-charcot-marie-tooth-disease
#9
Nirav Das, Savannah Kandalaft, Xiao Wu, Ajay Malhotra
BACKGROUND: Charcot-Marie-Tooth Disease (CMT) is a rare disorder with less than 200,000 cases reported in the US every year, making diagnosis challenging. MR and CT imaging has become more common in the evaluation of CMT to identify areas of disease involvement. CASE REPORT: A 27-year-old female from Guatemala with a past history of polio initially presented to the emergency room for necrotizing pneumonia. MRI images demonstrated smoothly enlarged, mildly enhancing trigeminal nerves...
March 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27882734/novel-mutations-in-sh3tc2-in-a-young-japanese-girl-with-charcot-marie-tooth-disease-type-4c
#10
Kazushi Ichikawa, Keita Numasawa, Saoko Takeshita, Akihiro Hashiguchi, Hiroshi Takashima
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. We describe the case of a 10-year-old Japanese girl diagnosed with CMT4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. On electrophysiological studies, motor nerve conduction velocity ranged from 22...
November 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27825708/is-non-operative-management-of-childhood-neurologic-cavovarus-foot-effective
#11
H d'Astorg, V Rampal, R Seringe, C Glorion, P Wicart
INTRODUCTION: Neurologic pes cavus is a progressive deformity that is difficult to treat during growth. The present study reports results of non-operative management, based on the pathophysiology of the deformity, by untwisting nocturnal splint, preceded in some cases by untwisting walking cast. The objective was to assess efficacy and impact on indications for surgery. METHOD: Twenty-three children (35 feet) were included. All had neurologic cavovarus foot, which was progressive in 24 feet (69%) (Charcot-Marie-Tooth disease)...
December 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/27802481/metatarsal-shape-and-foot-type-a-geometric-morphometric-analysis
#12
Scott Telfer, Matthew W Kindig, Bruce J Sangeorzan, William R Ledoux
Planus and cavus foot types have been associated with an increased risk of pain and disability. Improving our understanding of the geometric differences between bones in different foot types may provide insights into injury risk profiles and have implications for the design of musculoskeletal and finite element models. In this study we performed a geometric morphometric analysis on the geometry of metatarsal bones from 65 feet, segmented from computed tomography scans. These were categorized into four foot types: pes cavus, neutrally aligned, asymptomatic pes planus, and symptomatic pes planus...
November 1, 2016: Journal of Biomechanical Engineering
https://www.readbyqxmd.com/read/27796800/is-pes-cavus-alignment-associated-with-lisfranc-injuries-of-the-foot
#13
Jeremy D Podolnick, Daniel S Donovan, Nicholas DeBellis, Alejandro Pino
BACKGROUND: Lisfranc (tarsometatarsal joint) injuries are relatively rare, accounting for less than 1% of all fractures, and as many as 20% of subtle Lisfranc injuries are missed at the initial patient presentation. An undiagnosed Lisfranc injury can have devastating consequences to the patient. Therefore, any factor that can raise a clinician's index of suspicion to make this diagnosis is potentially important. The cavus foot has been associated with various maladies of the lower extremity, but to our knowledge, it has not been reported to be associated with Lisfranc injury...
May 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/27726050/mosaicism-in-atp1a3-related-disorders-not-just-a-theoretical-risk
#14
Marie Hully, Juliette Ropars, Laurence Hubert, Nathalie Boddaert, Marlene Rio, Mathieu Bernardelli, Isabelle Desguerre, Valerie Cormier-Daire, Arnold Munnich, Pascale de Lonlay, Louise Reilly, Claude Besmond, Nadia Bahi-Buisson
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27687732/late-onset-friedreich-s-ataxia-lofa-mimicking-charcot-marie-tooth-disease-type-2-what-is-similar-and-what-is-different
#15
Rubens Paulo A Salomão, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Fernanda Maggi, José Luiz Pedroso, Orlando G P Barsottini
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis...
September 29, 2016: Cerebellum
https://www.readbyqxmd.com/read/27634470/de-novo-p-arg756cys-mutation-of-atp1a3-causes-an-atypical-form-of-alternating-hemiplegia-of-childhood-with-prolonged-paralysis-and-choreoathetosis
#16
Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndromes. It remains to be determined whether or not a rare mutation in ATP1A3 may cause atypical phenotypes...
September 15, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27572719/pharmacological-treatments-for-friedreich-ataxia
#17
REVIEW
Mary Kearney, Richard W Orrell, Michael Fahey, Ruth Brassington, Massimo Pandolfo
BACKGROUND: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or early twenties. It is associated with slurred speech, scoliosis, and pes cavus. Heart abnormalities cause premature death in 60% of people with the disorder. There is no easily defined clinical or biochemical marker and no known treatment. This is the second update of a review first published in 2009 and previously updated in 2012...
August 30, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27548905/medial-longitudinal-arch-angle-presents-significant-differences-between-foot-types-a-biplane-fluoroscopy-study
#18
Megan E R Balsdon, Kristen M Bushey, Colin E Dombroski, Marie-Eve LeBel, Thomas R Jenkyn
The structure of the medial longitudinal arch (MLA) affects the foot's overall function and its ability to dissipate plantar pressure forces. Previous research on the MLA includes measuring the calcaneal-first metatarsal angle using a static sagittal plane radiograph, a dynamic height-to-length ratio using marker clusters with a multisegment foot model, and a contained angle using single point markers with a multisegment foot model. The objective of this study was to use biplane fluoroscopy to measure a contained MLA angle between foot types: pes planus (low arch), pes cavus (high arch), and normal arch...
October 1, 2016: Journal of Biomechanical Engineering
https://www.readbyqxmd.com/read/27524705/minimally-invasive-osteotomies-of-the-calcaneus
#19
REVIEW
Gregory P Guyton
Osteotomies of the calcaneus are powerful surgical tools, representing a critical component of the surgical reconstruction of pes planus and pes cavus deformity. Modern minimally invasive calcaneal osteotomies can be performed safely with a burr through a lateral incision. Although greater kerf is generated with the burr, the effect is modest, can be minimized, and is compatible with many fixation techniques. A hinged jig renders the procedure more reproducible and accessible.
September 2016: Foot and Ankle Clinics
https://www.readbyqxmd.com/read/27378932/insights-into-the-pathology-of-the-%C3%AE-3-na-k-atpase-ion-pump-in-neurological-disorders-lessons-from-animal-models
#20
REVIEW
Thomas H Holm, Karin Lykke-Hartmann
The transmembrane Na(+)-/K(+) ATPase is located at the plasma membrane of all mammalian cells. The Na(+)-/K(+) ATPase utilizes energy from ATP hydrolysis to extrude three Na(+) cations and import two K(+) cations into the cell. The minimum constellation for an active Na(+)-/K(+) ATPase is one alpha (α) and one beta (β) subunit. Mammals express four α isoforms (α1-4), encoded by the ATP1A1-4 genes, respectively. The α1 isoform is ubiquitously expressed in the adult central nervous system (CNS) whereas α2 primarily is expressed in astrocytes and α3 in neurons...
2016: Frontiers in Physiology
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