654 results match your criteria Pes Cavus


Accelerated Ponseti method: First experiences in a more convenient technique for patients with severe idiopathic club feet.

Foot Ankle Surg 2019 Mar 16. Epub 2019 Mar 16.

Faculty of Medicine and Health Sciences, An-Najah National University, Palestine. Electronic address:

Background: Congenital Idiopathic Talipes Equinovarus (CTEV), or clubfoot, is a complex deformity that involves pathological anatomy in the foot with ankle equinus, hindfoot varus, midfoot cavus and forefoot adductus [1]. Universal agreement is established about Ponseti technique as the initial management for this deformity. This preliminary study aims to investigate the possibility of having a braceable foot through a proposed accelerated Ponseti method by which, manipulations, 5 castings and Achilles tendon tenotomy are implemented in a week. Read More

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http://dx.doi.org/10.1016/j.fas.2019.03.003DOI Listing
March 2019
1 Read

A novel 3D evaluation method for assessing bone to bone relationships in clubfoot.

Eur Rev Med Pharmacol Sci 2019 Mar;23(5):1882-1890

School of Biomedical Engineering, FEIT, University of Technology Sydney, Ultimo, NSW, Australia.

Objective: Clubfoot is a complex congenital three-dimensional foot deformity, which affects 150,000-200,000 newborn babies annually around the world. A good understanding of the alignment of the two osseous columns and the lower leg of the ankle and foot complex is essential for evaluating the severity of clubfoot. The purposes of this study were to (1) develop an automated three-dimensional (3D) surface model of severe clubfoot based on two-dimensional (2D) slices of computed tomography (CT) images, (2) evaluate the alignment of foot bones relative to the ankle in severe clubfoot, and (3) examine the structural changes in the shape of the clubfoot. Read More

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http://www.europeanreview.org/article/17225
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http://dx.doi.org/10.26355/eurrev_201903_17225DOI Listing
March 2019
2 Reads

Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing.

Genet Test Mol Biomarkers 2019 Mar 22. Epub 2019 Mar 22.

1 Department of Pathology, Princess Margaret Hospital, Hong Kong, China.

Aims: Muscle disorders are clinically and genetically heterogeneous. Investigations, including plasma creatine kinase, electromyography, and nerve conduction velocity studies, might be nonspecific, whereas muscle biopsy might be limited by sampling bias and variable histopathology. Next-generation sequencing is now generally considered an important diagnostic tool for muscle disorders, with decreased costs and improved diagnostic yield. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0185DOI Listing
March 2019
1 Read

Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome.

Brain Dev 2019 Mar 20. Epub 2019 Mar 20.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Background: Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome is a known ATP1A3-related disorder, but little has been elucidated regarding its pathophysiology. We now report two new patients, a Japanese boy and his mother with a pathogenic mutation (c.2452G>A) in ATP1A3, who were diagnosed with CAPOS syndrome. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.03.003DOI Listing

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

J Inherit Metab Dis 2019 Mar 19. Epub 2019 Mar 19.

Neurology Department, Hôpital Raymond Poincaré, Paris, France.

Phosphoglycerate kinase (PGK) deficiency is a rare X-linked metabolic disorder caused by mutations in the PGK1 gene. Patients usually develop various combinations of nonspherocytic hemolytic anemia (NSHA), myopathy, and central nervous system disorders. In this national multicenter observational retrospective study, we recorded all known French patients with PGK deficiency, and 3 unrelated patients were identified. Read More

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http://dx.doi.org/10.1002/jimd.12087DOI Listing
March 2019
1 Read

The Incidence of Nonunion of the Naviculocuneiform Joint Arthrodesis:A Systematic Review.

J Foot Ankle Surg 2019 Mar 12. Epub 2019 Mar 12.

Faculty, Grant Medical Center, Columbus, OH; Fellowship-Trained Foot and Ankle Surgeon, Orthopedic Foot and Ankle Center, Westerville, OH; Residency Program Director, Grant Medical Center, Columbus, OH.

Naviculocuneiform (NC) joint arthrodesis is an effective procedure to treat pain and provide stability to the medial column. Various forms of fixation have been described for NC arthrodesis. Despite this, the available literature is scant and questions remain regarding nonunion rate and contributory factors. Read More

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http://dx.doi.org/10.1053/j.jfas.2018.09.014DOI Listing
March 2019
6 Reads

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

Eur J Paediatr Neurol 2019 Feb 22. Epub 2019 Feb 22.

Department of Pediatrics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

Mutations in ATP1A3 lead to different phenotypes having in common acute neurological decompensation episodes triggered by a specific circumstance and followed by sequelae. Alongside Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorineural hearing loss syndrome (CAPOS), a new Relapsing Encephalopathy with Cerebellar Ataxia (RECA) phenotype was published in 2015. We describe herein eight new pediatric cases. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.004DOI Listing
February 2019
4 Reads

The effect of foot type on the Achilles tendon moment arm and biomechanics.

Foot (Edinb) 2018 Oct 9;38:91-94. Epub 2018 Oct 9.

Clinic for Orthopaedic and Trauma Surgery, Kantonsspital Baselland, Switzerland. Electronic address:

Background: The aim was to calculate the Achilles tendon moment arm in different degrees of plantarflexion for pes planus, pes cavus and normal arched feet.

Methods: 99 patients (99 radiographs; 40 males, 59 females; mean age 49 years, SD 15) with a healthy ankle joint and a preoperative weightbearing lateral radiograph of the foot were included. Three groups (pes planus, pes cavus and normal-arched feet) with equal sample sizes (n=33) were formed. Read More

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http://dx.doi.org/10.1016/j.foot.2018.10.003DOI Listing
October 2018

A novel mutation associated with recessive distal hereditary motor neuropathy.

Ann Clin Transl Neurol 2019 Feb 3;6(2):401-405. Epub 2018 Dec 3.

Department of Neurology Fujian Medical University Union Hospital Fuzhou 350001 China.

Vaccinia-related kinase 1 () mutations can cause motor phenotypes including axonal sensorimotor neuropathy, distal hereditary motor neuropathy (dHMN), spinal muscular atrophy, and amyotrophic lateral sclerosis. Here, we identify a novel homozygous p.W375X mutation causing recessive dHMN. Read More

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http://dx.doi.org/10.1002/acn3.701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389749PMC
February 2019
1 Read

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.

J Peripher Nerv Syst 2019 Mar 6. Epub 2019 Mar 6.

Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy.

EGR2 (Early Growth Response 2) is one of the most important transcription factors involved in myelination in the peripheral nervous system. EGR2 mutations typically cause different forms of demyelinating neuropathy, that is, Charcot-Marie-Tooth type 1D (CMT1D), Dejerine-Sottas Syndrome (DSS), and Congenital Hypomyelinating Neuropathy (CHN). However, the EGR2 gene has been recently associated with an axonal phenotype (CMT2) in a large CMT family. Read More

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http://dx.doi.org/10.1111/jns.12314DOI Listing
March 2019
2 Reads

The incidence of biphalangeal fifth toe: Comparison of normal population and patients with foot deformity.

J Orthop Surg (Hong Kong) 2019 Jan-Apr;27(1):2309499019825521

4 Sivas Numune Hospital, Sivas, Turkey.

Background:: Pedal biphalangism, which was also defined as symphalangism, is seen at a frequency that cannot be ignored; however, no study can be found in the literature evaluating biphalangism in normal population in comparison to those who have foot disorders. The aim of this study was to evaluate the incidence of the pedal fifth toe symphalangism in normal population and in patients with foot deformity including hallux valgus, pes planus, pes cavus, and pes equinovarus. We hypothesized that pedal fifth toe symphalangism may be a predisposing factor or an accompanying structural variation for foot deformity. Read More

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http://dx.doi.org/10.1177/2309499019825521DOI Listing
February 2019
1 Read

Posterior Fibula of Pes Cavus: Real or Artifact? Answer Based on Cross-Sectional Imaging.

J Surg Orthop Adv 2018 ;27(4):255-260

Michigan International Foot and Ankle Center, St. Joseph Mercy Hospital- Oakland, Pontiac, Michigan; Department of Orthopaedic Surgery, Wayne State University School of Medicine, Detroit, Michigan; and Michigan State University College of Osteopathic Medicine, East Lansing, Michigan.

Cavus foot deformity is an often overlooked source of pathology. In the cavus foot, the fibula is often noted to be posterior on lateral radiographs. The objective of the study was to determine with three-dimensional imaging if the fibula is truly posterior or just artifact. Read More

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January 2018

Hard, soft and off-the-shelf foot orthoses and their effect on the angle of the medial longitudinal arch: A biplane fluoroscopy study.

Prosthet Orthot Int 2019 Feb 14:309364619825607. Epub 2019 Feb 14.

1 Faculty of Engineering, Western University, London, ON, Canada.

Background:: Foot orthoses have proven to be effective for conservative management of various pathologies. Pathologies of the lower limb can be caused by abnormal biomechanics such as irregular foot structure and alignment, leading to inadequate support.

Objectives:: To compare biomechanical effects of different foot orthoses on the medial longitudinal arch during dynamic gait using skeletal kinematics. Read More

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http://dx.doi.org/10.1177/0309364619825607DOI Listing
February 2019
2 Reads

A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction.

J Peripher Nerv Syst 2019 Mar 8;24(1):120-124. Epub 2019 Feb 8.

Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.

Heterozygous mutations in the inverted formin-2 (INF2) gene provoke focal segmental glomerulosclerosis (FSGS) and intermediate Charcot-Marie-Tooth (CMT) disease with FSGS. Here, we report four patients from a three-generation family with a new cryptic splicing INF2 mutation causing autosomal dominant intermediate CMT with minimal glomerular dysfunction. Three males and one female with a mean age of 51 years (26-87) presented with a slowly progressive sensorimotor polyneuropathy, pes cavus, and kyphoscoliosis. Read More

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http://doi.wiley.com/10.1111/jns.12308
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http://dx.doi.org/10.1111/jns.12308DOI Listing
March 2019
14 Reads

Hindfoot malalignment in adults with haemophilic ankle arthropathy: The importance of early detection and orthotic treatment.

Haemophilia 2019 Jan 21. Epub 2019 Jan 21.

Department of Hematology, La Paz University Hospital-IdiPaz, Madrid, Spain.

Introduction: Haemophilic arthropathy (osteoarthritis secondary to haemophilia) of the ankle may result in painful hindfoot malalignment.

Purpose: To analyse hindfoot alignment in subjects with haemophilic arthropathy of the ankle and evaluate the response (improvement of pain, function and alignment) to the orthotic treatment prescribed in patients with malalignment.

Methods: The study included 163 patients with haemophilia, all of them over 16 years of age. Read More

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http://dx.doi.org/10.1111/hae.13680DOI Listing
January 2019
8 Reads

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.

Ann Clin Transl Neurol 2019 Jan 10;6(1):15-26. Epub 2018 Nov 10.

Reata Pharmaceuticals 2801 Gateway Drive Suite 150 Irving Texas 75063.

Objective: Previous studies have demonstrated that suppression of Nrf2 in Friedreich ataxia tissues contributes to excess oxidative stress, mitochondrial dysfunction, and reduced ATP production. Omaveloxolone, an Nrf2 activator and NF-kB suppressor, targets dysfunctional inflammatory, metabolic, and bioenergetic pathways. The dose-ranging portion of this Phase 2 study assessed the safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia patients (NCT02255435). Read More

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http://dx.doi.org/10.1002/acn3.660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331199PMC
January 2019
4 Reads

Tibialis posterior transfer for foot drop due to central causes: Long-term hindfoot alignment.

Orthop Traumatol Surg Res 2019 Feb 24;105(1):153-158. Epub 2018 Dec 24.

Université Lille-Nord-de-France, Lille, France; Service d'orthopédie B, hôpital Salengro, CHRU de Lille, place de Verdun, 59037 Lille cedex, France; Laboratoire d'anatomie, faculté de médecine Henri-Warembourg, université de Lille 2, 59045 Lille cedex, France.

Background: Tibialis posterior transfer (TPT) is the treatment most widely used to palliate foot drop due to dorsiflexor palsy. TPT has been extensively studied in patients with peripheral neurological causes of foot drop. In contrast, data are scarce on central foot drop, in which TPT is often blamed for causing flattening of the arches. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18770568183037
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http://dx.doi.org/10.1016/j.otsr.2018.11.013DOI Listing
February 2019
16 Reads

Hind- and midfoot bone morphology varies with foot type and sex.

J Orthop Res 2019 Mar 16;37(3):744-759. Epub 2019 Jan 16.

RR&D Center for Limb Loss and MoBility, VA Puget Sound, Seattle, Washington.

Foot type has been associated with pain, injury, and altered gait mechanics. Morphological variations in foot bones due to foot type variation may impact surgical and therapeutic treatments. The purpose of this study was to utilize principal component analysis (PCA) to determine how morphology of the hind- and midfoot bones differs among foot types and sex. Read More

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http://dx.doi.org/10.1002/jor.24197DOI Listing
March 2019
8 Reads

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

J Neurol 2019 Feb 4;266(2):378-385. Epub 2018 Dec 4.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.

Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly progressive spastic ataxia variably associated with motor neuron involvement, epilepsy, and cognitive decline. We performed mutational screening in 80 patients with sporadic or autosomal recessive adult-onset ataxia. Read More

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http://link.springer.com/10.1007/s00415-018-9141-z
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http://dx.doi.org/10.1007/s00415-018-9141-zDOI Listing
February 2019
17 Reads

Foot functions in ankylosing spondylitis.

Clin Rheumatol 2019 Apr 3;38(4):1083-1088. Epub 2018 Dec 3.

Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Sütçü İmam University, Kahramanmaraş, Turkey.

Abtract: AIM: Because of the wide diversity of developmental stages in spondyloarthropathies (SpA), clinical and radiographic weak correlations are often found in the development of enthesopathies. In this study, foot functions of ankylosing spondylitis (AS) patients were analyzed with clinical and radiological features.

Method: Sixty-two AS patients and 39 age-matched, gender-matched, and body mass index (BMI)-matched healthy volunteers were included in this study. Read More

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http://link.springer.com/10.1007/s10067-018-4386-6
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http://dx.doi.org/10.1007/s10067-018-4386-6DOI Listing
April 2019
7 Reads

Malalignment and Lateral Ankle Instability: Causes of Failure from the Varus Tibia to the Cavovarus Foot.

Foot Ankle Clin 2018 Dec 22;23(4):593-603. Epub 2018 Sep 22.

Department of Orthopaedic Surgery, Inselspital, University of Berne, Freiburgstrasse, Berne 3010, Switzerland.

A lower leg or hindfoot varus malalignment is a frequently encountered but underestimated cause of chronic ankle instability and ankle arthritis in the long term. When evaluating patients with ankle instability, a high index of clinical suspicion for tibia and hindfoot malalignment and subsequent biomechanics should be maintained. Management of lateral ankle instability in the presence of varus malalignment must comprise a generous indication for accurate hindfoot realignment. Read More

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http://dx.doi.org/10.1016/j.fcl.2018.07.005DOI Listing
December 2018
4 Reads

Functional consequences of the CAPOS mutation E818K of Na,K-ATPase.

J Biol Chem 2019 01 8;294(1):269-280. Epub 2018 Nov 8.

From the Department of Biomedicine, Aarhus University, DK-8000 Aarhus C, Denmark and

The cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is caused by the single mutation E818K of the α3-isoform of Na,K-ATPase. Here, using biochemical and electrophysiological approaches, we examined the functional characteristics of E818K, as well as of E818Q and E818A mutants. We found that these amino acid substitutions reduce the apparent Na affinity at the cytoplasmic-facing sites of the pump protein and that this effect is more pronounced for the lysine and glutamine substitutions (3-4-fold) than for the alanine substitution. Read More

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http://www.jbc.org/lookup/doi/10.1074/jbc.RA118.004591
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http://dx.doi.org/10.1074/jbc.RA118.004591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322875PMC
January 2019
6 Reads

A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Chin Med J (Engl) 2018 Sep;131(18):2164-2171

Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.

Methods: Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing. Read More

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http://dx.doi.org/10.4103/0366-6999.240797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144853PMC
September 2018
26 Reads

A Review of Extensor Hallucis Longus Variants Featuring a Novel Extensor Primi Internodii Hallucis Muscle Merging With Extensor Hallucis Brevis.

J Foot Ankle Surg 2018 Nov - Dec;57(6):1218-1220. Epub 2018 Aug 23.

Professor, Vice Chair, and Director of Anatomy Division, Department of Pathology, Anatomy, and Laboratory Medicine, West Virginia University School of Medicine Robert C. Byrd Health Sciences Center, Morgantown, WV. Electronic address:

The extensor hallucis longus (EHL) muscle/tendon complex has been used in a variety of tendon transfer and tenodesis surgeries to correct iatrogenic hallux varus deformity, equinovarus foot deformity, clawed hallux associated with a cavus foot, and dynamic hyperextension of the hallux and, even, to prevent pedal imbalance after transmetatarsal amputation. Although it is usually considered a unipennate muscle inserting into the dorsum of the base of the distal phalanx of the hallux, a vast majority of EHL muscles possess ≥1 accessory tendinous slips that insert into other neighboring bones, muscles, or tendons, which can complicate these surgeries. The present report reviewed the reported data on EHL variants and describe a new variant, in which the tendons of the extensor primi internodii hallucis muscle of Wood and extensor hallucis brevis muscle merged together proximal to the tarsometatarsal (Lisfranc) joint, a site of rupture for extensor tendons of the foot. Read More

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http://dx.doi.org/10.1053/j.jfas.2018.03.031DOI Listing
February 2019

Muscle activation during fast walking with two types of foot orthoses in participants with cavus feet.

J Electromyogr Kinesiol 2018 Dec 18;43:7-13. Epub 2018 Aug 18.

Département des sciences de l'activité physique, Université du Québec à Trois-Rivières, 3351 Boul Des Forges, Trois-Rivières, Quebec G9A 5H7, Canada; Groupe de recherche sur les affections neuro-musculo-squelettiques (GRAN), Université du Québec à Trois-Rivières, 3351 Boul Des Forges, Trois-Rivières, Quebec G9A 5H7, Canada. Electronic address:

The aim of this study was to quantify the effects of foot orthoses (FOs) with and without a lateral bar on muscle activity of participants with cavus feet. Fifteen participants were recruited from the Université du Québec à Trois-Rivières students and podiatry clinic. The muscle activity of the tibialis anterior, fibularis longus, gastrocnemius lateralis and medialis, vastus medialis and lateralis, biceps femoris and gluteus medius were recorded during fast walking under two experimental conditions (FOs with and without a lateral bar) and a control condition (shoes). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10506411183009
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http://dx.doi.org/10.1016/j.jelekin.2018.08.002DOI Listing
December 2018
10 Reads

Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.

Clin Genet 2018 Nov 9;94(5):473-479. Epub 2018 Aug 9.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Four siblings of consanguineous Bedouin kindred presented at infancy with an autosomal recessive syndrome of congenital microcephaly, facial dysmorphism, strabismus, developmental delay and ataxia with positive pyramidal signs. Toward the end of their first decade, they developed areflexia, multiple cranial neuropathies and severe polyneuropathy with progressive muscle weakness, affecting proximal and distal extremities. Physical assessment exhibited kyphoscoliosis, bilateral syndactyly and distal muscle wasting with drop-foot and pes cavus. Read More

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http://dx.doi.org/10.1111/cge.13419DOI Listing
November 2018
3 Reads

Foot measures in patients with pes cavus with and without charcot-marie-tooth disease: A pilot study.

Muscle Nerve 2019 Jan 28;59(1):122-125. Epub 2018 Nov 28.

Ohio State University Wexner Medical Center Department of Neurology, Division of Neuromuscular Medicine, Columbus, Ohio, USA.

Introduction: Pes cavus often signals the presence of Charcot-Marie-Tooth (CMT) in adult patients, although its prevalence in the general population makes it a finding of unclear significance.

Methods: We undertook a pilot double cohort study to investigate the feasibility of comparing preselected bedside and radiographic foot measures in pes cavus patients with and without CMT.

Results: A total of 16 CMT and 11 non-CMT patients were recruited. Read More

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http://dx.doi.org/10.1002/mus.26309DOI Listing
January 2019
28 Reads

Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.

Neuropediatrics 2018 Oct 16;49(5):339-341. Epub 2018 Jul 16.

Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.

mutations have now been recognized in infants, children, and adults presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and most recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. The phenotypic spectrum of -related neurological disorders continues to expand. In this case study, we report on early life epilepsy with episodic apnea potentially secondary to mutation in a Tunisian child. Read More

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http://dx.doi.org/10.1055/s-0038-1667024DOI Listing
October 2018
4 Reads

Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.

Mol Genet Metab 2018 08 28;124(4):230-237. Epub 2018 Jun 28.

Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, 40126 Bologna, Italy.

Among the numerous congenital disorders of glycosylation concerning glycoproteins, only a single mutation in ganglioside biosynthesis had been reported until a few years ago: one in the ST3GAL5 gene, encoding GM3 synthase. More recently, additional mutations in the same gene were reported, together with several distinct mutations in the B4GALNT1 gene, encoding GM2/GD2/GA2 synthase. Patients suffering from ST3GAL5 deficiency present a devastating syndrome characterized by early onset and dramatic neurological and cognitive impairment, sometimes associated with dyspigmentation and an increased blood lactate concentration. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.06.014DOI Listing
August 2018
13 Reads

Case 255: Foot Binding.

Radiology 2018 Jul;288(1):312-315

From the National University Health System, 5 Lower Kent Ridge Rd, Singapore 119074.

History A 99-year-old Chinese-Indonesian woman with a longstanding history of diabetes mellitus was admitted for chest infection and was incidentally found to have bilateral deformed feet. She was otherwise asymptomatic and could ambulate independently. Photographs and radiographs of the feet were obtained. Read More

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http://pubs.rsna.org/doi/10.1148/radiol.2018160344
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http://dx.doi.org/10.1148/radiol.2018160344DOI Listing
July 2018
18 Reads

Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.

Genes Genomics 2018 01 10;40(1):77-84. Epub 2017 Oct 10.

Department of Biological Sciences, Kongju National University, 56 Gonjudaehak-ro, Gongju, 32588, South Korea.

The kinesin heavy chain isoform 5A (KIF5A) gene, which encodes a microtubule-based motor protein, plays an important role in the transport of organelles in the nerve cells. Mutations in the KIF5A showed a wide phenotypic spectrum from hereditary spastic paraplegia (HSP) to axonal Charcot-Marie-Tooth peripheral neuropathy type 2 (CMT2). This study identified three pathogenic KIF5A mutations in Korean CMT2 patients by whole exome sequencing. Read More

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http://dx.doi.org/10.1007/s13258-017-0612-xDOI Listing
January 2018
23 Reads

Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.

Neuropediatrics 2018 Oct 25;49(5):342-346. Epub 2018 May 25.

Department of Neuropediatrics, University Medical Center Schleswig Holstein, Kiel, Germany.

Mutations in the gene are known to cause alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism (RDP). Both conditions are childhood-onset neurological disorders with distinct symptoms and different times of onset. has also been associated with CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss). Read More

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http://dx.doi.org/10.1055/s-0038-1653978DOI Listing
October 2018
3 Reads

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.

Brain Dev 2018 Aug 3;40(7):576-581. Epub 2018 Apr 3.

Sanin Rosai Hospital, Yonago, Japan.

A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual symptoms of progressive disturbance of visual acuity with optic atrophy and hearing loss, moderate intellectual disability, strabismus, ophthalmoplegia, as well as fluctuating degree of gait ataxia, chorea, tremor, and myoclonus. Read More

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http://dx.doi.org/10.1016/j.braindev.2018.03.004DOI Listing
August 2018
17 Reads

Tarsal coalition in paediatric patients.

Orthop Traumatol Surg Res 2019 Feb 27;105(1S):S123-S131. Epub 2018 Mar 27.

Paediatric orthopaedics department, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, Washington 98105, USA.

Tarsal coalition is due to failure of segmentation between two or more foot bones during embryological development at a site where the joint cleft fails to develop. Depending on the nature of the tissue connecting the bones, the abnormality is a syndesmosis, synchondrosis, or synostosis. Although the coalition exists at birth, synostosis usually develops only late during growth. Read More

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http://dx.doi.org/10.1016/j.otsr.2018.01.019DOI Listing
February 2019
21 Reads

Foot posture is associated with plantar pressure during gait: A comparison of normal, planus and cavus feet.

Gait Posture 2018 May 5;62:235-240. Epub 2018 Mar 5.

La Trobe Sport and Exercise Medicine Research Centre, School of Allied Health, La Trobe University, Melbourne, Victoria, 3086, Australia; Discipline of Podiatry, School of Allied Health, La Trobe University, Melbourne, Victoria, 3086, Australia.

Background: Variations in foot posture, such as pes planus (low medial longitudinal arch) or pes cavus (high medial longitudinal arch) are associated with some lower limb injuries. However, the mechanism that links foot posture to injury is not clear. Research question The aim of this study was to compare plantar pressure between healthy individuals with normal, planus or cavus feet. Read More

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http://dx.doi.org/10.1016/j.gaitpost.2018.03.005DOI Listing
May 2018
5 Reads

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

J Neurol Sci 2018 04 7;387:134-138. Epub 2018 Feb 7.

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain. Electronic address:

PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p. Read More

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http://dx.doi.org/10.1016/j.jns.2018.02.021DOI Listing
April 2018
5 Reads

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.

Clin Neurol Neurosurg 2018 05 3;168:60-63. Epub 2018 Mar 3.

Center for Experimental Neurological Therapies, Sant'Andrea Hospital, Neurosciences, Mental Health, and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy. Electronic address:

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). Read More

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http://dx.doi.org/10.1016/j.clineuro.2018.02.042DOI Listing
May 2018
6 Reads

Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C.

Case Rep Neurol 2018 Jan-Apr;10(1):38-44. Epub 2018 Feb 9.

aThe Neuro-Genetics Institute, Sharon Hill, Pennsylvania, USA.

Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the (SH3 domain and tetratricopeptide repeats 2) gene. Interestingly, although mutations in this gene have been observed in European gypsies, a population that originated in India, there are few publications describing Indian patients. We report our analysis of a 50-year-old woman of Asian Indian descent with onset of progressive distal weakness and sensory loss in childhood. Read More

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http://dx.doi.org/10.1159/000486589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836280PMC
February 2018
4 Reads

Long-term follow-up of patients undergoing tibialis posterior transfer: Is acquired pes planus a complication?

Foot (Edinb) 2018 Mar 22;34:83-89. Epub 2017 Nov 22.

Queen Elizabeth Hospital, King's Lynn, United Kingdom.

In this retrospective study, a series of 10 elective patients treated with transfer of the tibialis posterior (TP) tendon for pes cavus and drop foot are described. Since TP transfer completely subtracts the role of this tendon, this cohort of patients provides an opportunity to examine the consequences of tibialis posterior (TP) deficiency. After a mean follow up period of 44. Read More

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http://dx.doi.org/10.1016/j.foot.2017.11.008DOI Listing
March 2018
11 Reads

Centre of pressure characteristics in normal, planus and cavus feet.

J Foot Ankle Res 2018 5;11. Epub 2018 Feb 5.

1La Trobe Sport and Exercise Medicine Research Centre, School of Allied Health, La Trobe University, Melbourne, Victoria 3086 Australia.

Background: The aim of this study was to compare centre of pressure (COP) characteristics between healthy adults with normal, planus or cavus feet who were allocated to groups based on reliable foot posture measurement techniques.

Methods: Ninety-two healthy adult participants (aged 18 to 45) were recruited and classified as either normal ( = 35), pes planus ( = 31) or pes cavus ( = 26) based on Foot Posture Index, Arch Index and normalised navicular height truncated measurements. Barefoot walking trials were conducted using an emed-x 400 plantar pressure system (Novel GmbH, Munich, Germany). Read More

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http://dx.doi.org/10.1186/s13047-018-0245-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800032PMC
September 2018
4 Reads

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

Cerebellum 2018 Aug;17(4):489-493

Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.

ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes. Ataxia is always more increasingly reported, either as accessory or prominent sign, in ATP1A3-related conditions, being thus considered as a peculiar feature of this spectrum. Here, we report three cases of childhood rapid-onset ataxia due to two different ATP1A3 variants. Read More

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http://dx.doi.org/10.1007/s12311-018-0920-yDOI Listing
August 2018
13 Reads

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Eur J Paediatr Neurol 2018 Mar 31;22(2):264-271. Epub 2018 Jan 31.

Child Neuropsychiatry Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, Giannina Gaslini Institute, University of Genoa, Genoa, Italy. Electronic address:

Mutations in the ATP1A3 gene, which encodes the alpha-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video documentation. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.01.010DOI Listing
March 2018
5 Reads

Relationships Between Self-awareness and Clinical Diagnostic Findings of Abnormal Foot Arch Height in Koreans.

Ann Rehabil Med 2017 Dec 28;41(6):1013-1018. Epub 2017 Dec 28.

Department of Physical and Rehabilitation Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Objective: To see how people think about their own feet, and evaluate whether there are correlations among self-awareness of the participants and clinical examination findings.

Methods: Adult twins and their families who participated in the Healthy Twin study from May 2008 to April 2010 were recruited. Participants were asked whether they thought their feet were normal, flat, or cavus. Read More

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http://dx.doi.org/10.5535/arm.2017.41.6.1013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773421PMC
December 2017
3 Reads

Developing a Three-Dimensional (3D) Assessment Method for Clubfoot-A Study Protocol.

Front Physiol 2017 4;8:1098. Epub 2018 Jan 4.

Department of Physiotherapy, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Congenital talipes equinovarus (CTEV) or clubfoot is a common pediatric congenital foot deformity that occurs 1 in 1,000 live births. Clubfoot is characterized by four types of foot deformities: hindfoot equinus; midfoot cavus; forefoot adductus; and hindfoot varus. A structured assessment method for clubfoot is essential for quantifying the initial severity of clubfoot deformity and recording the progress of clubfoot intervention. Read More

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http://journal.frontiersin.org/article/10.3389/fphys.2017.01
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http://dx.doi.org/10.3389/fphys.2017.01098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758584PMC
January 2018
38 Reads

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Hum Genet 2018 Feb 5;137(2):111-127. Epub 2018 Jan 5.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Read More

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http://dx.doi.org/10.1007/s00439-017-1862-zDOI Listing
February 2018
37 Reads

Achilles Tendinopathy.

Sports Med Arthrosc Rev 2018 Mar;26(1):16-30

Centre for Sports and Exercise Medicine, Queen Mary University of London, Barts and The London School of Medicine and Dentistry, Mile End Hospital, London, England.

Achilles tendinopathy is a common cause of disability. Despite the economic and social relevance of the problem, the causes and mechanisms of Achilles tendinopathy remain unclear. Tendon vascularity, gastrocnemius-soleus dysfunction, age, sex, body weight and height, pes cavus, and lateral ankle instability are considered common intrinsic factors. Read More

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http://dx.doi.org/10.1097/JSA.0000000000000185DOI Listing
March 2018
12 Reads

ATP1A3-related disorders: An update.

Eur J Paediatr Neurol 2018 Mar 21;22(2):257-263. Epub 2017 Dec 21.

Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, 20131 Milan, Italy. Electronic address:

Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders. From 2004 to 2012, both autosomal dominant and de novo mutations in ATP1A3 have been detected in patients affected by these three conditions. Growing evidence suggests that AHC, RDP and CAPOS syndrome are part of a large and continuously expanding clinical spectrum and share some recurrent clinical features, such as abrupt-onset, asymmetric anatomical distribution and the presence of triggering factors, which are highly suggestive of ATP1A3 mutations. Read More

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http://dx.doi.org/10.1016/j.ejpn.2017.12.009DOI Listing
March 2018
4 Reads