632 results match your criteria Pes Cavus


Hind- and Midfoot Bone Morphology Varies with Foot Type and Sex.

J Orthop Res 2018 Dec 11. Epub 2018 Dec 11.

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

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
December 2018
1 Read

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

J Neurol 2018 Dec 4. 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
December 2018
3 Reads

Foot functions in ankylosing spondylitis.

Clin Rheumatol 2018 Dec 3. 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
December 2018
5 Reads

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

J Biol Chem 2018 Nov 8. Epub 2018 Nov 8.

Biomedicine, Aarhus University, Denmark.

The CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) 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- to 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
November 2018
2 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
11 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
2 Reads

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

Muscle Nerve 2018 Jul 24. Epub 2018 Jul 24.

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
July 2018
13 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
2 Reads

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

Mol Genet Metab 2018 Aug 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
12 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
12 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
15 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

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
13 Reads

Tarsal coalition in paediatric patients.

Orthop Traumatol Surg Res 2018 Mar 27. 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
March 2018
4 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

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

J Neurol Sci 2018 Apr 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
2 Reads

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

Clin Neurol Neurosurg 2018 May 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
3 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

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
8 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
3 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
10 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
4 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
1 Read

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
15 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
24 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
8 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

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

Int J Pediatr Otorhinolaryngol 2018 Jan 22;104:191-194. Epub 2017 Nov 22.

Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.11.022DOI Listing
January 2018
4 Reads

The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.

Intern Med 2018 Feb 21;57(4):613-615. Epub 2017 Dec 21.

Department of Neurology, Keio University School of Medicine, Japan.

Seipinopathy is an autosomal dominant neurodegenerative disease caused by mutations of the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene. We report the first Japanese case of seipinopathy with a heterozygous mutation of p.N88S in the BSCL2 gene. Read More

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http://dx.doi.org/10.2169/internalmedicine.8765-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849563PMC
February 2018
21 Reads

X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.

Medicine (Baltimore) 2017 Dec;96(49):e9176

Department of Pediatrics, Chonbuk National University School of Medicine, Jeonju, Korea.

Rationale: Charcot-Marie-Tooth disease (CMT) is typically an autosomal dominant, inherited neuropathy, although there is a rare male X-linked CMT. Such patients show central nervous system (CNS) involvement in addition to peripheral neuropathy. Recently, we encountered a patient who presented with acute disseminated encephalomyelitis (ADEM)-like symptoms, but was later diagnosed as having X-linked CMT (CMTX) due to a mutation. Read More

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http://Insights.ovid.com/crossref?an=00005792-201712080-0015
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http://dx.doi.org/10.1097/MD.0000000000009176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728979PMC
December 2017
12 Reads

Neuromuscular diseases: Diagnosis and management.

Orthop Traumatol Surg Res 2018 Feb 28;104(1S):S89-S95. Epub 2017 Nov 28.

Service d'orthopédie et de chirurgie réparatrice de l'enfant, département hospitalo-universitaire maladies musculosquelettiques et innovations thérapeutiques (MAMUTH), hôpital d'enfants Armand-Trousseau, 26, avenue du Dr-A.-Netter, 75571 Paris cedex 12, France.

Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e. Read More

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http://dx.doi.org/10.1016/j.otsr.2017.04.019DOI Listing
February 2018
5 Reads

Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India.

Ann Indian Acad Neurol 2017 Oct-Dec;20(4):425-429

Department of Neurology, T.N.M.C and B.Y.L Nair CH. Hospitals, Mumbai, Maharashtra, India.

Background: Charcot-Marie-Tooth (CMT) disease is clinically and genetically heterogeneous. There are no published series describing clinical, electrophysiological, and genetic information on CMT from the Indian subcontinent. Magnetic resonance imaging (MRI) neurography technique provides useful information about the plexus and roots and can be employed in patients with CMT. Read More

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http://dx.doi.org/10.4103/aian.AIAN_316_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682752PMC
November 2017
9 Reads

ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

Sci Rep 2017 Nov 28;7(1):16504. Epub 2017 Nov 28.

Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam, Korea.

The etiologies and prevalence of sporadic, postlingual-onset, progressive auditory neuropathy spectrum disorder (ANSD) have rarely been documented. Thus, we aimed to evaluate the prevalence and molecular etiologies of these cases. Three out of 106 sporadic progressive hearing losses turned out to manifest ANSD. Read More

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http://dx.doi.org/10.1038/s41598-017-16676-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705773PMC
November 2017
19 Reads
5.080 Impact Factor

A case with CMTX1 disease showing transient ischemic-attack-like episodes.

Neurol Neurochir Pol 2018 Mar 9;52(2):285-288. Epub 2017 Nov 9.

Istanbul University, Istanbul Medical Faculty, Department of Neurology, Division of Child Neurology, Istanbul Turkey.

Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. Read More

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http://dx.doi.org/10.1016/j.pjnns.2017.10.016DOI Listing
March 2018
9 Reads

Novel pregnancy-triggered episodes of CAPOS syndrome.

Am J Med Genet A 2018 01 1;176(1):235-240. Epub 2017 Nov 1.

Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, Washington.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p. Read More

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http://dx.doi.org/10.1002/ajmg.a.38502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726903PMC
January 2018
17 Reads

Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.

Sultan Qaboos Univ Med J 2017 Aug 10;17(3):e355-e357. Epub 2017 Oct 10.

Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.

Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord. Read More

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http://dx.doi.org/10.18295/squmj.2017.17.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642370PMC
August 2017
10 Reads

[Triple arthrodesis for correction of cavovarus deformity].

Oper Orthop Traumatol 2017 Dec 20;29(6):461-472. Epub 2017 Oct 20.

Klinik für Orthopädie und Traumatologie des Bewegungsapparates, Kantonsspital Baselland, Liestal, Schweiz.

Objective: The aim is to correct the underlying cavovarus deformity and to achieve a pain-free and stable hindfoot.

Indications: Rigid neurologic, posttraumatic, congenital, and idiopathic cavovarus deformities.

Contraindications: General surgical or anesthesiological risks, infections, critical soft tissue conditions, neurovascular impairment of the lower extremity, noncompliance, patients with severely reduced bone quality, insulin-dependent diabetes mellitus, smoking. Read More

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http://dx.doi.org/10.1007/s00064-017-0519-3DOI Listing
December 2017
10 Reads

[Domestic external fixator application in the treatment of limb deformities: 7 289 cases application report].

Zhonghua Wai Ke Za Zhi 2017 Sep;55(9):678-683

Department of Orthopaedics, Rehabilitation Hospital of the National Research Center for Rehabilitation Technical Aids, Beijing 100176, China.

To discuss the clinical application and effects of domestic external fixator in the treatment of patients with malformations of limbs. A total of 7 289 patients with malformation of limbs who had been operated in Qin Sihe orthopedic surgery team from January 1989 to June 2016 were retrospective analyzed. The patients were treated with domestic external fixator, including 4 033 males and 3 256 females, aging from 2 to 82 years with a mean age of 23. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5815.2017.09.008DOI Listing
September 2017
5 Reads

Surgical management of 142 cases of split cord malformations associated with osseous divide.

Neurol Neurochir Pol 2017 Nov - Dec;51(6):459-464. Epub 2017 Aug 1.

Department of Neurosurgery, The 306th Hospital of PLA, Beijing 100010, China. Electronic address:

Objectives: To investigate the key surgical points in treating split cord malformations associated with osseous divide and scoliosis (SCM-OD-S).

Materials And Methods: The surgical options and methods of a total of 142 SCM-OD-S cases were retrospectively analyzed, and the surgical precautions and imaging diagnosis were also discussed.

Results: The 142 patients were performed osseous divide resection plus dural sac molding, which achieved good results and no serious complication such as spinal cord and nerve injury occurred; certain symptoms such as urination-defecation disorders, muscle strength subsidence, Pes Cavus, and toe movement disorder in partial patients achieved various degrees of relief, and it also created good conditions for next-step treatment against scoliosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00283843173005
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http://dx.doi.org/10.1016/j.pjnns.2017.07.013DOI Listing
March 2018
8 Reads

Intramedullary Screw Fixation of a Proximal Fifth Metatarsal Stress Fracture in an Elite Athlete: A Case Report.

Authors:
Steffen Sauer

Surg J (N Y) 2017 Jan 17;3(1):e6-e8. Epub 2017 Mar 17.

Department of Orthopaedic Surgery and Sports Medicine, Aarhus University Hospital, Aarhus, Denmark.

Intramedullary screw fixation of proximal fifth metatarsal fractures is a simple surgical procedure, enabling early postoperative weight-bearing and subsequently rapid return to competitive sport, which is of great significance for elite athletes. The procedure is described in an elite basketball player in this article. Pes cavus and hindfoot varus alignment potentiate cyclic loading onto the fifth metatarsal and should be addressed as it may represent underestimated factors concerning fracture prognosis. Read More

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http://dx.doi.org/10.1055/s-0037-1599833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5553494PMC
January 2017
5 Reads

Autopsy case of the mutation in a patient with signs of mitochondrial dysfunction.

Neurol Genet 2017 Aug 27;3(4):e171. Epub 2017 Jul 27.

Department of Neurology and Clinical Neuroscience (H.N., M.O., M. Koga, M. Kawai, T.K.), Department of Laboratory Science (H.K.), Department of Pathology (E.I.), Yamaguchi University Graduate School of Medicine, Japan; Department of Neurology and Cerebrovascular Medicine (M.T.), Saitama International Medical Center, Saitama Medical University, Japan; and Department of Neurology and Geriatrics (Y.H., H.T.), Kagoshima University Graduate School of Medical and Dental Sciences, Japan.

Objective: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the gene.

Methods: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with mutations. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532748PMC
August 2017
6 Reads

Ponseti Technique For Management Of Congenital Idiopathic Club Foot.

J Ayub Med Coll Abbottabad 2017 Apr-Jun;29(2):246-249

Orthopaedic Unit, Ayub Teaching Hospital, Abbottabad, Pakistan.

Background: Clubfoot or congenital talipes equinovarus, is a congenital deformity of the foot. It consists of cavus, adduction, varus and equinus. This is due to medial displacement of navicular and calcaneus around the talus. Read More

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July 2017
7 Reads

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.

Pediatr Neurol 2017 Aug 29;73:101-105. Epub 2017 Apr 29.

Pediatric Neurology, Connecticut Children's Medical Center, University of Connecticut, Hartford, Connecticut.

Background: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes.

Methods: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.04.022DOI Listing
August 2017
7 Reads

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

Muscle Nerve 2018 Feb 7;57(2):255-259. Epub 2017 Jul 7.

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Introduction: Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However, there are no prospective, randomized studies on surgical management, and there is variation in the approaches among centers both within and between countries.

Methods: In this study we assessed the frequency of foot deformities and surgery among patients recruited into the Inherited Neuropathies Consortium (INC). Read More

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http://dx.doi.org/10.1002/mus.25724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811923PMC
February 2018
20 Reads

Ponseti method in the management of clubfoot under 2 years of age: A systematic review.

PLoS One 2017 20;12(6):e0178299. Epub 2017 Jun 20.

Centre for Health Technology (CHT), Faculty of Engineering and IT, University of Technology Sydney (UTS), Ultimo, Sydney, Australia.

Background: Congenital talipes equinovarus (CTEV), also known as clubfoot, is common congenital orthopedic foot deformity in children characterized by four components of foot deformities: hindfoot equinus, hindfoot varus, midfoot cavus, and forefoot adduction. Although a number of conservative and surgical methods have been proposed to correct the clubfoot deformity, the relapses of the clubfoot are not uncommon. Several previous literatures discussed about the technical details of Ponseti method, adherence of Ponseti protocol among walking age or older children. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0178299PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478104PMC
September 2017
4 Reads

Pes planus and pes cavus in Southern Italy: a 5 years study.

Ann Ist Super Sanita 2017 Apr-Jun;53(2):142-145

ASL Foggia, Foggia, Italy.

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. Read More

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http://dx.doi.org/10.4415/ANN_17_02_10DOI Listing
April 2018
19 Reads

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.

Mol Neurobiol 2018 Apr 16;55(4):3546-3550. Epub 2017 May 16.

Department of Human Biology, University of Haifa, Haifa, Israel.

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. Read More

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http://dx.doi.org/10.1007/s12035-017-0588-1DOI Listing
April 2018
25 Reads