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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
#1
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
#2
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...
November 21, 2016: 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
#3
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
#4
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
#5
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
#6
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...
October 28, 2016: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/27726050/mosaicism-in-atp1a3-related-disorders-not-just-a-theoretical-risk
#7
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...
October 10, 2016: 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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27311606/an-explorative-investigation-of-functional-differences-in-plantar-center-of-pressure-of-four-foot-types-using-sample-entropy-method
#14
Zhanyong Mei, Kamen Ivanov, Guoru Zhao, Huihui Li, Lei Wang
In the study of biomechanics of different foot types, temporal or spatial parameters derived from plantar pressure are often used. However, there is no comparative study of complexity and regularity of the center of pressure (CoP) during the stance phase among pes valgus, pes cavus, hallux valgus and normal foot. We aim to analyze whether CoP sample entropy characteristics differ among these four foot types. In our experiment participated 40 subjects with normal feet, 40 with pes cavus, 19 with pes valgus and 36 with hallux valgus...
June 16, 2016: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/27294497/evaluating-the-cavus-foot
#15
Ananth S Eleswarapu, Bakhtiar Yamini, Robert J Bielski
The cavus foot is a deformity characterized by abnormal elevation of the medial arch of the foot. Unique among foot deformities, cavus typically occurs secondary to a spinal cord or neuromuscular pathology, with two-thirds of patients having an underlying neurologic diagnosis. Thus, recognition of cavus foot and appropriate evaluation are essential in the primary care setting. Patients may present with unstable gait, frequent ankle sprains, or pain along the metatarsal heads or the lateral border of the foot...
June 1, 2016: Pediatric Annals
https://www.readbyqxmd.com/read/27143115/clinical-and-neuroradiological-features-of-spinocerebellar-ataxia-38-sca38
#16
Barbara Borroni, Eleonora Di Gregorio, Laura Orsi, Giovanna Vaula, Chiara Costanzi, Filippo Tempia, Nico Mitro, Donatella Caruso, Marta Manes, Lorenzo Pinessi, Alessandro Padovani, Alfredo Brusco, Loredana Boccone
INTRODUCTION: SCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty acids with a high and specific expression in Purkinje cells, has recently been identified. OBJECTIVE: The present study was aimed at describing the clinical and neuroimaging features, and the natural history of SCA38. METHODS: We extended our clinical and brain neuroimaging data on SCA38 including 21 cases from three Italian families...
July 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27091223/the-genetic-homogeneity-of-capos-syndrome-four-new-patients-with-the-c-2452g-a-p-glu818lys-mutation-in-the-atp1a3-gene
#17
Roderick P P W M Maas, Jolanda H Schieving, Meyke Schouten, Erik-Jan Kamsteeg, Bart P C van de Warrenburg
BACKGROUND: The clinical syndrome of cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) was first described 20 years ago, but it was only recently that whole exome sequencing unveiled the causative mutation in the ATP1A3 gene. We present four patients from the seventh and eighth family identified worldwide, provide a critical review of all patients published thus far, and speculate about the pathophysiologic processes underlying the acute neurological manifestations...
June 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/26846447/identification-of-a-de-novo-dync1h1-mutation-via-wes-according-to-published-guidelines
#18
Dongxue Ding, Zhao Chen, Kai Li, Zhe Long, Wei Ye, Zhaoli Tang, Kun Xia, Rong Qiu, Beisha Tang, Hong Jiang
De novo mutations that contribute to rare Mendelian diseases, including neurological disorders, have been recently identified. Whole-exome sequencing (WES) has become a powerful tool for the identification of inherited and de novo mutations in Mendelian diseases. Two important guidelines were recently published regarding the investigation of causality of sequence variant in human disease and the interpretation of novel variants identified in human genome sequences. In this study, a family with supposed movement disorders was sequenced via WES (including the proband and her unaffected parents), and a standard investigation and interpretation of the identified variants was performed according to the published guidelines...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26764299/-treatment-for-patients-with-charcot-marie-tooth-disease-orthopaedic-aspects
#19
REVIEW
Kota Watanabe
The orthopedic manifestations in patients with Charcot-Marie-Tooth disease include deformity and dysfunction of the extremities and spine. Conservative treatment is the first choice. Orthosis and rehabilitation can improve function, and are important for the prevention of joint contractures. Foot problems are most commonly observed and require surgical treatment. Foot deformities include pes cavus, cavovarus, claw toes, or drop foot. Single or combined surgeries selected for soft tissues are plantar release, tendon transfer, or Achilles tendon lengthening, and those for bones are osteotomies and joint fusions...
January 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/26645395/nefl-n98s-mutation-another-cause-of-dominant-intermediate-charcot-marie-tooth-disease-with-heterogeneous-early-onset-phenotype
#20
José Berciano, Kristien Peeters, Antonio García, Tomás López-Alburquerque, Elena Gallardo, Arantxa Hernández-Fabián, Ana L Pelayo-Negro, Els De Vriendt, Jon Infante, Albena Jordanova
The purpose of this study was to describe a pedigree with NEFL N98S mutation associated with a dominant intermediate Charcot-Marie-Tooth disease (DI-CMT) and heterogeneous early-onset phenotype. The pedigree comprised two patients, the proband and her son, aged 38 and 5 years. The proband, evaluated at age 31, showed delayed motor milestones that, as of the second decade, evolved into severe phenotype consisting of sensorimotor neuropathy, pes cavus, clawing hands, gait and kinetic cerebellar ataxia, nystagmus and dysarthria, she being wheelchair bound...
February 2016: Journal of Neurology
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