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https://www.readbyqxmd.com/read/29642829/-infecting-glial-cells-with-antimony-resistant-leishmania-tropica-a-new-ex-vivo-model
#1
Orçun Zorbozan, Mehmet Harman, Vedat Evren, Mümin Alper Erdoğan, Aslı Kılavuz, Varol Tunalı, İbrahim Çavuş, Özlem Yılmaz, Ahmet Özbilgin, Nevin Turgay
Leishmaniasis is a vector-borne zoonotic disease that shows different clinical features like cutaneous, mucocutaneous, visceral and viscerotropic forms. The protocols used in the treatment of leishmaniasis are toxic and have many limitations during administration. One of the limitations of treatment is the resistance against the protocols in practice. There is also a need to define new treatment options especially for resistant patients. Ex-vivo models using primary cell cultures may be a good source for evaluating new drug options in patients with antimony resistance, in addition to in-vitro and in-vivo studies...
January 2018: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/29625811/further-characterization-of-capos-caos-syndrome-with-the-glu818lys-mutation-in-the-atp1a3-gene-a-case-report
#2
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
#3
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
#4
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
#5
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/29537314/custom-3d-printed-total-talar-prostheses-restore-normal-joint-anatomy-throughout-the-hindfoot
#6
Joseph Tracey, Danny Arora, Christopher E Gross, Selene G Parekh
BACKGROUND: Third generation total talar prostheses (TTPs) are viable options for talar avascular necrosis (AVN) in the absence of neighboring joint pathology. The use of modern three-dimensional (3D) printing allows the production of custom implants that exactly mimic the patient's anatomy. The aim of this study is to determine the accuracy of 3D printing in reproducing a synthetic talus and, in doing so, restoring more normal anatomical relationships. We hypothesize that this mode of replication will restore and maintain normal radiographic alignment of the ankle, subtalar, and forefoot joints in the setting of talar AVN...
March 1, 2018: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/29524798/the-relationship-between-foot-posture-and-plantar-pressure-during-walking-in-adults-a-systematic-review
#7
REVIEW
Andrew K Buldt, Jamie J Allan, Karl B Landorf, Hylton B Menz
BACKGROUND: Foot posture is a risk factor for some lower limb injuries, however the underlying mechanism is not well understood. Plantar pressure analysis is one technique to investigate the interaction between foot posture and biomechanical function of the lower limb. RESEARCH QUESTION: The aim of this review was to investigate the relationship between foot posture and plantar pressure during walking. METHODS: A systematic database search was conducted using MEDLINE, CINAHL, SPORTDiscus and Embase to identify studies that have assessed the relationship between foot posture and plantar pressure during walking...
February 23, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29524657/novel-homozygous-gba2-mutation-in-a-patient-with-complicated-spastic-paraplegia
#8
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...
March 3, 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
#9
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/29490974/pediatric-and-adolescent-pulmonary-hypertension-what-is-the-risk-of-undergoing-invasive-hemodynamic-testing
#10
EDITORIAL
Anudeep Jassal, Omer Cavus, Elisa A Bradley
No abstract text is available yet for this article.
February 28, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29460817/mafos-gdm-trial-maternal-fish-oil-supplementation-in-women-with-gestational-diabetes-and-cord-blood-dna-methylation-at-insulin-like-growth-factor-1-igf-1-gene
#11
Dilek Dilli, Nazan Neslihan Doğan, Mehmet Şah İpek, Yunus Çavuş, Serdar Ceylaner, Haldun Doğan, Arzu Dursun, Tuncay Küçüközkan, Ayşegül Zenciroğlu
BACKGROUND: To evaluate the effects of maternal fish oil supplementation in women with gestational diabetes mellitus (GDM) on birthweight and DNA methylation at insulin like growth factor-1 (IGF-1) gene in their offspring. METHODS: Randomized controlled trial. A total of 120 women with GDM were randomized to one of the two groups between 24 and 28 weeks of the pregnancy: Group 1 (n = 52) received fish oil liquid softgel (Ocean plus®) and Group 2 (Placebo) (n = 68) sunflower oil liquid softgel...
February 2018: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/29454275/long-term-follow-up-of-patients-undergoing-tibialis-posterior-transfer-is-acquired-pes-planus-a-complication
#12
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
#13
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
#14
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
#15
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/29366750/defining-the-molecular-signatures-of-human-right-heart-failure
#16
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...
March 1, 2018: Life Sciences
https://www.readbyqxmd.com/read/29354578/relationships-between-self-awareness-and-clinical-diagnostic-findings-of-abnormal-foot-arch-height-in-koreans
#17
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
#18
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
#19
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/29305684/an-extraaxially-localized-intrasellar-giant-hydatid-cyst-with-hypophyseal-insufficiency
#20
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
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