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https://www.readbyqxmd.com/read/29625811/further-characterization-of-capos-caos-syndrome-with-the-glu818lys-mutation-in-the-atp1a3-gene-a-case-report
#1
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Shinichi Hirose, Rika Hiraiwa, Yoshihiro Maegaki, Kousaku Ohno
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...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29601967/tarsal-coalition-in-paediatric-patients
#2
REVIEW
P-L Docquier, P Maldaque, M Bouchard
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. Talo-calcaneal and calcaneo-navicular coalitions account for over 90% of all cases of tarsal coalition. The joint at the site of the coalition is stiff...
March 27, 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29573666/foot-posture-is-associated-with-plantar-pressure-during-gait-a-comparison-of-normal-planus-and-cavus-feet
#3
Andrew K Buldt, Saeed Forghany, Karl B Landorf, Pazit Levinger, George S Murley, Hylton B Menz
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. METHODS: Ninety-two healthy volunteers (aged 18 to 45) were classified as either normal (n = 35), pes planus (n = 31) or pes cavus (n = 26) based on the Foot Posture Index, Arch Index and normalised navicular height truncated...
March 5, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29571850/phenotypical-features-of-two-patients-diagnosed-with-pharc-syndrome-and-carriers-of-a-new-homozygous-mutation-in-the-abhd12-gene
#4
Marina Frasquet, Vincenzo Lupo, María José Chumillas, Juan Francisco Vázquez-Costa, Carmen Espinós, Teresa Sevilla
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.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades...
April 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29524657/novel-homozygous-gba2-mutation-in-a-patient-with-complicated-spastic-paraplegia
#5
Giulia Coarelli, Silvia Romano, Lorena Travaglini, Michela Ferraldeschi, Francesco Nicita, Maria Spadaro, Arianna Fornasiero, Marina Frontali, Marco Salvetti, Enrico Bertini, Giovanni Ristori
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). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders...
May 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29515423/clinical-and-genetic-analysis-of-an-asian-indian-family-with-charcot-marie-tooth-disease-type-4c
#6
Raji P Grewal, Kinsi Oberoi, Leema Reddy Peddareddygari
Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the SH3TC2 (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. A clinical examination revealed the presence of a neuropathy with pes cavus without spinal abnormalities...
January 2018: Case Reports in Neurology
https://www.readbyqxmd.com/read/29454275/long-term-follow-up-of-patients-undergoing-tibialis-posterior-transfer-is-acquired-pes-planus-a-complication
#7
Mira Pecheva, Adam Devany, Basil Nourallah, Steven Cutts, Chandra Pasapula
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 44.7 months, only one patient showed evidence of strain in the spring ligament but none of the patients in this series developed clinical or radiological evidence of planovalgus deformity...
March 2018: Foot
https://www.readbyqxmd.com/read/29397530/childhood-rapid-onset-ataxia-expanding-the-phenotypic-spectrum-of-atp1a3-mutations
#8
Tommaso Schirinzi, Federica Graziola, Francesco Nicita, Lorena Travaglini, Fabrizia Stregapede, Massimiliano Valeriani, Paolo Curatolo, Enrico Bertini, Federico Vigevano, Alessandro Capuano
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...
February 3, 2018: Cerebellum
https://www.readbyqxmd.com/read/29396171/atp1a3-spectrum-disorders-a-video-documented-history-of-7-genetically-confirmed-early-onset-cases
#9
Michela Stagnaro, Livia Pisciotta, Marcella Gherzi, Maja Di Rocco, Fiorella Gurrieri, Elena Parrini, Giulia Prato, Edvige Veneselli, Elisa De Grandis
Mutations in the ATP1A3 gene, which encodes the alpha3 -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...
March 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29305691/the-capos-mutation-in-atp1a3-alters-na-k-atpase-function-and-results-in-auditory-neuropathy-which-has-implications-for-management
#10
Lisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, Nanna D Rendtorff, Hanne Poulsen, Himanshu Khandelia, Wojciech Kopec, Troels J Brünnich Lyngbye, Christian Hamel, Cecile Delettre, Beatrice Bocquet, Michael Bille, Hanne H Owen, Toke Bek, Hanne Jensen, Karen Østergaard, Claes Möller, Linda Luxon, Lucinda Carr, Louise Wilson, Kaukab Rajput, Tony Sirimanna, Katherine Harrop-Griffiths, Shamima Rahman, Barbara Vona, Julia Doll, Thomas Haaf, Oliver Bartsch, Hendrik Rosewich, Tobias Moser, Maria Bitner-Glindzicz
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. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN)...
February 2018: Human Genetics
https://www.readbyqxmd.com/read/29300224/achilles-tendinopathy
#11
Umile Giuseppe Longo, Mario Ronga, Nicola Maffulli
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. The essence of Achilles tendinopathy is a failed healing response, with haphazard proliferation of tenocytes, some evidence of degeneration in tendon cells and disruption of collagen fibers, and subsequent increase in noncollagenous matrix...
March 2018: Sports Medicine and Arthroscopy Review
https://www.readbyqxmd.com/read/29287866/childhood-hearing-loss-is-a-key-feature-of-capos-syndrome-a-case-report
#12
Stéphanie Paquay, Elsa Wiame, Naima Deggouj, Antonella Boschi, Romolo Daniele De Siati, Yves Sznajer, Marie-Cécile Nassogne
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. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29245364/x-linked-charcot-marie-tooth-disease-with-gjb1-mutation-presenting-as-acute-disseminated-encephalomyelitis-like-illness-a-case-report
#13
Jin Kyu Kim, Seung-A Han, Sun Jun Kim
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. PATIENT CONCERNS: A previously healthy 11-year-old boy was admitted for a sudden transient weakness of his left side extremities...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#14
REVIEW
P Mary, L Servais, R Vialle
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.g., toe-walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD...
February 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29184351/clinico-electrophysiological-and-genetic-overlaps-and-magnetic-resonance-imaging-findings-in-charcot-marie-tooth-disease-a-pilot-study-from-western-india
#15
Satish Vasant Khadilkar, Nahush D Patil, Nikhil Dhananjay Kadam, Khushnuma A Mansukhani, Bhagyadhan A Patel
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. Settings and Design: A prospective, observational study carried out at a tertiary care hospital in Western India...
October 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29184165/atp1a3-mutations-can-cause-progressive-auditory-neuropathy-a-new-gene-of-auditory-synaptopathy
#16
Kyu-Hee Han, Doo-Yi Oh, Seungmin Lee, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Moo Kyun Park, Nayoung K D Kim, Jaekwang Lee, Eunyoung Yi, Jong-Min Kim, Jeong-Whun Kim, Jong-Hee Chae, Seung Ha Oh, Woong-Yang Park, Byung Yoon Choi
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. Through whole exome sequencing and subsequent bioinformatics analysis, two out of the three were found to share a de novo variant, p.E818K of ATP1A3, which had been reported to cause exclusively CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome...
November 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29090527/novel-pregnancy-triggered-episodes-of-capos-syndrome
#17
Irene J Chang, Margaret P Adam, Suman Jayadev, Thomas D Bird, Niranjana Natarajan, Ian A Glass
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.Glu818Lys) in the ATP1A3 gene, encoding Na(+) /K(+) ATPase α3. We describe a large CAPOS pedigree with three generations of affected members, the first ascertained in the United States...
November 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28826918/surgical-management-of-142-cases-of-split-cord-malformations-associated-with-osseous-divide
#18
Tao Wang, Jian-Wen Gu, Tie-Jun Shi, Ke Li, Wei Wang, Xiao-Jun Bai, Jun-Hai Zhang, Zhi-Feng Yang, Shao-Jie Cui
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...
November 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28804760/autopsy-case-of-the-c12orf65-mutation-in-a-patient-with-signs-of-mitochondrial-dysfunction
#19
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, Yujiro Higuchi, Michiaki Koga, Motoharu Kawai, Hiroo Kawano, Eiji Ikeda, Hiroshi Takashima, Takashi Kanda
OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28647130/fever-induced-paroxysmal-weakness-and-encephalopathy-a-new-phenotype-of-atp1a3-mutation
#20
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi
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.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants...
August 2017: Pediatric Neurology
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