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https://www.readbyqxmd.com/read/28018685/coexistence-of-factor-vii-deficiency-and-hereditary-spastic-paraplegia-in-two-siblings
#1
Hortensia De la Corte-Rodriguez, E Carlos Rodriguez-Merchan, M Teresa Alvarez-Roman, Ana L Hernandez-Moreno
We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. They presented with fine motor symptoms and difficulty in walking. During physical examination we observed neurological symptoms (general hypotonia, muscular hypotrophy, exaggerated tendon reflexes, pes cavus, and spastic gait). Given that the symptoms were not justified by the deficiency of coagulation factor VII and on suspicion of hereditary spastic paraplegia (HSP), tests were carried out...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27992254/an-investigation-of-structure-flexibility-and-function-variables-that-discriminate-asymptomatic-foot-types
#2
Sarah P Shultz, Jinsup Song, Andrew P Kraszewski, Jocelyn F Hafer, Smita Rao, Sherry Backus, Rajshree Mootanah, Howard J Hillstrom
It has been suggested that foot type consider not only foot structure (high, normal, low arch), but also function (over-pronation, normal, over-supination) and flexibility (reduced, normal, excessive). Therefore, this study used canonical regression analyses to assess which variables of foot structure, function, and flexibility can accurately discriminate between clinical foot type classifications. The feet of 61 asymptomatic, healthy adults (18-77 years) were classified as cavus (N=24), rectus (N=54), or planus (N=44) using standard clinical measures...
December 19, 2016: Journal of Applied Biomechanics
https://www.readbyqxmd.com/read/27935562/current-conservative-management-and-classification-of-club-foot-a-review
#3
Ganesan Balasankar, Ameersing Luximon, Adel Al-Jumaily
Clubfoot, known as congenital talipes equinovarus, is one of the complex paediatric foot deformity with the incidence of 1 in every 1000 live births. It consists of four complex foot abnormalities such as forefoot adductus, midfoot cavus, and hindfoot varus and ankle equinus. There are a number of surgical techniques (soft tissue releases, arthrodesis) used to correct clubfoot. However currently the conservative management (manipulation, serial casting, and braces) of clubfoot is considered as the best choice and it is widely accepted among orthopaedists...
November 30, 2016: Journal of Pediatric Rehabilitation Medicine
https://www.readbyqxmd.com/read/27917338/six-different-extremely-calcified-lesions-of-the-brain-brain-stones
#4
Yurdal Gezercan, Vedat Acik, Gökhan Çavuş, Ali Ihsan Ökten, Emre Bilgin, Hakan Millet, Burak Olmaz
BACKGROUND: This study aimed to extend clinical documentation of cerebral calculi by reporting six cases of cerebral calculi with distinct etiologies and localizations. METHODS: We evaluated the age, sex distribution, presenting symptoms, neurological examination findings, pathology results, and location of the calcifications of six patients with intracranial calcifications. RESULTS: Three of the six patients with brain stones were female (50%), and three were male (50%)...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27916547/role-of-several-cytokines-and-adhesion-molecules-in-the-diagnosis-and-prediction-of-survival-of-hepatocellular-carcinoma
#5
Raim Iliaz, Umit Akyuz, Didem Tekin, Murat Serilmez, Sami Evirgen, Bilger Cavus, Hilal Soydinc, Derya Duranyildiz, Cetin Karaca, Kadir Demir, Fatih Besisik, Sabahattin Kaymakoglu, Filiz Akyuz
BACKGROUND AND STUDY AIMS: There is still need for accurate markers for early diagnosis of hepatocellular carcinoma (HCC) and assessment of prognosis. The aim of this study is to investigate interleukin (IL)-32, IL-1 beta, IL-18, vascular cell adhesion molecule (VCAM)-1, and epithelial cell adhesion molecule (EpCAM) in the diagnosis and assessment of prognosis of HCC. PATIENTS AND METHODS: Fifty patients with HCC and 15 healthy volunteers were enroled into this prospective study...
December 2016: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/27908631/confirmation-of-the-gnb4-gene-as-causal-for-charcot-marie-tooth-disease-by-a-novel-de-novo-mutation-in-a-czech-patient
#6
Laššuthová Petra, Šafka Brožková Dana, Neupauerová Jana, Krůtová Marcela, Mazanec Radim, Seeman Pavel
The association of GNB4 with Charcot-Marie-Tooth (CMT) has recently been described in a publication by Soong et al. (Soong, et al., 2013). Here we present a patient with CMT in whom whole exome sequencing identified the mutation p.Lys57Glu in the GNB4 gene (NM_021629.3:c.169A>G). The patient, now 41 years old, is a sporadic case in the family. At the age of 35 he presented with severe disability (CMT neuropathy score 29), profound muscle atrophies, pes cavus and scoliosis. Previously, the patient was tested for PMP22 duplications/deletions and later also with 64 CMT gene panel, with no causal variant found...
September 22, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27887922/obesity-foot-pain-and-foot-disorders-in-older-men-and-women
#7
Alyssa B Dufour, Elena Losina, Hylton B Menz, Michael P LaValley, Marian T Hannan
OBJECTIVE: We investigated obesity, foot pain and selected foot disorders, and determined if associations differed by foot posture or dynamic foot function. METHODS: We included 2445 men and women (4888 feet) from the Framingham Foot Study (2002-2008). A foot examination assessed presence of disorders and pain on each foot. Body mass index (BMI, kg/m(2)) was categorized as normal (<25), overweight (25-29.99), moderate-obesity (30-34.99) severe-obesity (35+). Foot posture (normal, cavus, planus) and dynamic foot function (normal, supinated, pronated) were defined using plantar pressure measurement system...
November 22, 2016: Obesity Research & Clinical Practice
https://www.readbyqxmd.com/read/27884603/cranial-nerve-involvement-in-charcot-marie-tooth-disease
#8
Nirav Das, Savannah Kandalaft, Xiao Wu, Ajay Malhotra
BACKGROUND: Charcot-Marie-Tooth Disease (CMT) is a rare disorder with less than 200,000 cases reported in the US every year, making diagnosis challenging. MR and CT imaging has become more common in the evaluation of CMT to identify areas of disease involvement. CASE REPORT: A 27-year-old female from Guatemala with a past history of polio initially presented to the emergency room for necrotizing pneumonia. MRI images demonstrated smoothly enlarged, mildly enhancing trigeminal nerves...
November 21, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27882734/novel-mutations-in-sh3tc2-in-a-young-japanese-girl-with-charcot-marie-tooth-disease-type-4c
#9
Kazushi Ichikawa, Keita Numasawa, Saoko Takeshita, Akihiro Hashiguchi, Hiroshi Takashima
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. We describe the case of a 10-year-old Japanese girl diagnosed with CMT4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. On electrophysiological studies, motor nerve conduction velocity ranged from 22...
November 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27869621/ponseti-treatment-of-rigid-residual-deformity-in-congenital-clubfoot-after-walking-age
#10
Massimiliano Dragoni, Pasquale Farsetti, Giuseppe Vena, Diego Bellini, Pierluigi Maglione, Ernesto Ippolito
BACKGROUND: There is no established treatment for rigid residual deformity of congenital clubfoot (CCF) after walking age. Soft-tissue procedures, osseous procedures, and external fixation have been performed with unpredictable results. We applied the Ponseti method to patients with this condition in order to improve the outcomes of treatment. METHODS: We retrospectively reviewed the cases of 44 patients (68 feet) with congenital clubfoot whose mean age (and standard deviation) at treatment was 4...
October 19, 2016: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/27825708/is-non-operative-management-of-childhood-neurologic-cavovarus-foot-effective
#11
H d'Astorg, V Rampal, R Seringe, C Glorion, P Wicart
INTRODUCTION: Neurologic pes cavus is a progressive deformity that is difficult to treat during growth. The present study reports results of non-operative management, based on the pathophysiology of the deformity, by untwisting nocturnal splint, preceded in some cases by untwisting walking cast. The objective was to assess efficacy and impact on indications for surgery. METHOD: Twenty-three children (35 feet) were included. All had neurologic cavovarus foot, which was progressive in 24 feet (69%) (Charcot-Marie-Tooth disease)...
December 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/27802481/metatarsal-shape-and-foot-type-a-geometric-morphometric-analysis
#12
Scott Telfer, Matthew W Kindig, Bruce J Sangeorzan, William R Ledoux
Planus and cavus foot types have been associated with an increased risk of pain and disability. Improving our understanding of the geometric differences between bones in different foot types may provide insights into injury risk profiles and have implications for the design of musculoskeletal and finite element models. In this study we performed a geometric morphometric analysis on the geometry of metatarsal bones from 65 feet, segmented from computed tomography scans. These were categorized into four foot types: pes cavus, neutrally aligned, asymptomatic pes planus, and symptomatic pes planus...
November 1, 2016: Journal of Biomechanical Engineering
https://www.readbyqxmd.com/read/27796800/is-pes-cavus-alignment-associated-with-lisfranc-injuries-of-the-foot
#13
Jeremy D Podolnick, Daniel S Donovan, Nicholas DeBellis, Alejandro Pino
BACKGROUND: Lisfranc (tarsometatarsal joint) injuries are relatively rare, accounting for less than 1% of all fractures, and as many as 20% of subtle Lisfranc injuries are missed at the initial patient presentation. An undiagnosed Lisfranc injury can have devastating consequences to the patient. Therefore, any factor that can raise a clinician's index of suspicion to make this diagnosis is potentially important. The cavus foot has been associated with various maladies of the lower extremity, but to our knowledge, it has not been reported to be associated with Lisfranc injury...
October 28, 2016: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/27784839/belching-in-irritable-bowel-syndrome-an-impedance-study
#14
Tuba Obekli, Filiz Akyuz, Umit Akyuz, Serpil Arici, Raim İliaz, Suut Gokturk, Sami Evirgen, Bilger Cavus, Cetin Karaca, Kadir Demir, Fatih Besisik, Sabahattin Kaymakoglu
Background/Aims: There are limited data about the relation between belching and irritable bowel syndrome (IBS). We aimed to evaluate belching in patients with IBS. Methods: Twenty-five patients with IBS and 12 healthy volunteers were enrolled in the study. IBS was diagnosed in accordance with the Rome III criteria. All patients were questioned about the presence of symptoms for belching, gastroesophageal reflux disease, and dyspepsia. Esophageal manometry and 24-hour pH-impedance were performed in all patients and healthy volunteers...
October 27, 2016: Journal of Neurogastroenterology and Motility
https://www.readbyqxmd.com/read/27782089/plantar-pressure-detection-with-fiber-bragg-gratings-sensing-system
#15
Tsair-Chun Liang, Jhe-Jhun Lin, Lan-Yuen Guo
In this paper, a novel fiber-optic sensing system based on fiber Bragg gratings (FBGs) to measure foot plantar pressure is proposed. This study first explores the Pedar-X insole foot pressure types of the adult-size chart and then defines six measurement areas to effectively identify four foot types: neutral foot, cavus foot, supinated foot and flat foot. The plantar pressure signals are detected by only six FBGs, which are embedded in silicone rubber. The performance of the fiber optic sensing is examined and compared with a digital pressure plate of i-Step P1000 with 1024 barometric sensors...
October 22, 2016: Sensors
https://www.readbyqxmd.com/read/27726050/mosaicism-in-atp1a3-related-disorders-not-just-a-theoretical-risk
#16
Marie Hully, Juliette Ropars, Laurence Hubert, Nathalie Boddaert, Marlene Rio, Mathieu Bernardelli, Isabelle Desguerre, Valerie Cormier-Daire, Arnold Munnich, Pascale de Lonlay, Louise Reilly, Claude Besmond, Nadia Bahi-Buisson
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS...
October 10, 2016: Neurogenetics
https://www.readbyqxmd.com/read/27687732/late-onset-friedreich-s-ataxia-lofa-mimicking-charcot-marie-tooth-disease-type-2-what-is-similar-and-what-is-different
#17
Rubens Paulo A Salomão, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Fernanda Maggi, José Luiz Pedroso, Orlando G P Barsottini
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis...
September 29, 2016: Cerebellum
https://www.readbyqxmd.com/read/27662425/the-effects-of-cognitive-load-during-intertrial-intervals-on-judgements-of-control-the-role-of-working-memory-and-contextual-learning
#18
H A Cavus, Rachel M Msetfi
When there is no contingency between actions and outcomes, but outcomes occur frequently, people tend to judge that they have control over those outcomes, a phenomenon known as the outcome density (OD) effect. Recent studies show that the OD effect depends on the duration of the temporal interval between action-outcome conjunctions, with longer intervals inducing stronger effects. However, under some circumstances OD effect is reduced, for example when participants are mildly depressed. We reasoned that working memory (WM) plays an important role in learning of context; with reduced WM capacity to process contextual information during intertrial intervals (ITIs) during contingency learning might lead to reduced OD effects (limited capacity hypothesis)...
November 2016: Acta Psychologica
https://www.readbyqxmd.com/read/27634470/de-novo-p-arg756cys-mutation-of-atp1a3-causes-an-atypical-form-of-alternating-hemiplegia-of-childhood-with-prolonged-paralysis-and-choreoathetosis
#19
Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndromes. It remains to be determined whether or not a rare mutation in ATP1A3 may cause atypical phenotypes...
September 15, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27572719/pharmacological-treatments-for-friedreich-ataxia
#20
REVIEW
Mary Kearney, Richard W Orrell, Michael Fahey, Ruth Brassington, Massimo Pandolfo
BACKGROUND: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or early twenties. It is associated with slurred speech, scoliosis, and pes cavus. Heart abnormalities cause premature death in 60% of people with the disorder. There is no easily defined clinical or biochemical marker and no known treatment. This is the second update of a review first published in 2009 and previously updated in 2012...
August 30, 2016: Cochrane Database of Systematic Reviews
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