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https://www.readbyqxmd.com/read/29454275/long-term-follow-up-of-patients-undergoing-tibialis-posterior-transfer-is-acquired-pes-planus-a-complication
#1
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...
November 22, 2017: Foot
https://www.readbyqxmd.com/read/29441131/centre-of-pressure-characteristics-in-normal-planus-and-cavus-feet
#2
Andrew K Buldt, Saeed Forghany, Karl B Landorf, George S Murley, Pazit Levinger, Hylton B Menz
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 ( n = 35), pes planus ( n = 31) or pes cavus ( n = 26) based on Foot Posture Index, Arch Index and normalised navicular height truncated measurements...
2018: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/29397530/childhood-rapid-onset-ataxia-expanding-the-phenotypic-spectrum-of-atp1a3-mutations
#3
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
#4
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...
January 29, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29366750/defining-the-molecular-signatures-of-human-right-heart-failure
#5
Jordan L Williams, Omer Cavus, Emefah C Loccoh, Sara Adelman, John C Daugherty, Sakima A Smith, Benjamin Canan, Paul M L Janssen, Sara Koenig, Crystal F Kline, Peter J Mohler, Elisa A Bradley
AIMS: Right ventricular failure (RVF) varies significantly from the more common left ventricular failure (LVF). This study was undertaken to determine potential molecular pathways that are important in human right ventricular (RV) function and may mediate RVF. MATERIALS AND METHODS: We analyzed mRNA of human non-failing LV and RV samples and RVF samples from patients with pulmonary arterial hypertension (PAH), and post-LVAD implantation. We then performed transcript analysis to determine differential expression of genes in the human heart samples...
January 20, 2018: Life Sciences
https://www.readbyqxmd.com/read/29354578/relationships-between-self-awareness-and-clinical-diagnostic-findings-of-abnormal-foot-arch-height-in-koreans
#6
Youngsuk Son, Hyo Jeong Kang, Yun-Mi Song, Ji Hye Hwang
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. The lateral talometatarsal angles were measured on foot X-rays to determine the foot arch height...
December 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29313094/does-arthroscopic-resection-of-a-too-long-anterior-process-improve-static-disorders-of-the-foot-in-children-and-adolescents
#7
Julien Bourlez, Pauline Joly-Monrigal, Fanny Alkar, Alexandre Laborde, Jerôme Cottalorda, Djamel Louahem, Marion Delpont
PURPOSE: A too-long anterior process of the calcaneus is a common cause of pain and hind-foot instability. Our goal was to evaluate the early results of arthroscopic resection in terms of static foot disorders in children and adolescents. METHODS: We retrospectively studied 11 ft (10 patients). The inclusion criteria were treatment of TLAP by arthroscopic resection and a minimum follow-up period of six months. Surgery was indicated in cases with persistent symptomatic TLAP resistant to orthopaedic treatment...
January 8, 2018: International Orthopaedics
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
#8
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)...
January 5, 2018: Human Genetics
https://www.readbyqxmd.com/read/29305684/an-extraaxially-localized-intrasellar-giant-hydatid-cyst-with-hypophyseal-insufficiency
#9
Gökhan Çavuş, Vedat Açik, Yeliz Çavuş, Emre Bilgin, Yurdal Gezercan, Ali Ihsan Ökten
PURPOSE: A hydatid cyst is a parasitic illness that is caused by the larvae of Echinococcus granulosus. Hydatid cysts occur in the liver in 75% and in the lungs in 15% of cases. Central nervous system involvement is rare (perhaps as low as 1%), and the majority of such cases are observed in children. Headache and vomiting are the most frequently observed symptoms. In patients diagnosed with a hydatid cyst, imaging methods and serologic tests are very important for identifying cranial involvement...
January 5, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29300224/achilles-tendinopathy
#10
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
#11
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/29249072/surgical-approaches-to-upper-thoracic-pott-s-disease-with-spinal-instability-during-childhood-two-cases
#12
Gokhan Cavus, Yurdal Gezercan, Ali Ihsan Ökten, Orkun Tolunay, Tamer Çelik, Ali Arslan, Ümit Çelik
PURPOSE: Tuberculosis is a common disease worldwide that is caused by Mycobacterium tuberculosis. Tuberculosis is primarily a pulmonary disease, but extrapulmonary manifestations are not uncommon, especially in children and adolescents. METHODS: We present two pediatric patients who underwent surgery in our clinic for Pott's disease in the upper thoracic region. The patients were investigated to describe their age, complaints, neurological examination results, disease location, surgical procedure, and complications...
December 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29248504/rapid-emergence-of-colistin-resistance-and-its-impact-on-fatality-among-healthcare-associated-infections
#13
M Aydın, Ö Ergönül, A Azap, H Bilgin, G Aydın, S A Çavuş, Y Z Demiroğlu, H E Alışkan, O Memikoğlu, Ş Menekşe, Ş Kaya, N A Demir, I Karaoğlan, S Başaran, Ç Hatipoğlu, Ş Erdinç, E Yılmaz, A Tümtürk, Y Tezer, H Demirkaya, Ş E Çakar, Ş Keske, S Tekin, C Yardımcı, Ç Karakoç, P Ergen, Ö Azap, L Mülazımoğlu, O Ural, F Can, H Akalın
This article describes the emergence of resistance and predictors of fatality for 1556 cases of healthcare-associated Gram-negative bloodstream infection in 2014 and 2015. The colistin resistance rate in Klebsiella pneumoniae was 16.1%, compared with 6% in 2013. In total, 660 (42.4%) cases were fatal. The highest fatality rate was among patients with Acinetobacter baumannii bacteraemia (58%), followed by Pseudomonas aeruginosa (45%), Klebsiella pneumoniae (41%), Enterobacter cloacae (32%) and Escherichia coli (28%)...
December 15, 2017: Journal of Hospital Infection
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
#14
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/29239965/videolaryngoscopy-for-physician-based-prehospital-emergency-intubation-a-prospective-randomized-multicenter-comparison-of-different-blade-types-using-a-p-advance-c-mac-system-and-kingvision
#15
Erol Cavus, Sebastian Janssen, Florian Reifferscheid, Amke Caliebe, Andreas Callies, Martin von der Heyden, Peer G Knacke, Volker Doerges
BACKGROUND: Videolaryngoscopy is a valuable technique for endotracheal intubation. When used in the perioperative period, different videolaryngoscopes vary both in terms of technical use and intubation success rates. However, in the prehospital environment, the relative performance of different videolaryngoscopic systems is less well studied. METHODS: We conducted this prospective, randomized, multicenter study at 4 German prehospital emergency medicine centers...
December 11, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#16
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...
November 28, 2017: 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
#17
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
#18
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/29153007/ultrasound-guided-hyaluronic-acid-injection-for-the-management-of-morton-s-neuroma
#19
Kang Lee, Il-Yeong Hwang, Chang Hyun Ryu, Jae Woo Lee, Seung Woo Kang
BACKGROUND: Morton's neuroma is one of the common causes of forefoot pain. In the present study, hyaluronic acid injection was performed on patients to determine the efficacy and adverse effects of hyaluronic acid in management of Morton's neuroma. METHODS: Eighty-three patients with Morton's neuroma in their third intermetatarsal space with definite Mulder's click were included in the study. Those with severe forefoot deformities such as forefoot cavus or hallux valgus on plain X-rays were excluded...
November 1, 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/29090527/novel-pregnancy-triggered-episodes-of-capos-syndrome
#20
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
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