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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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)...
November 4, 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/27802481/metatarsal-shape-and-foot-type-a-geometric-morphometric-analysis
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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)...
September 20, 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
#14
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
#15
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
https://www.readbyqxmd.com/read/27548905/medial-longitudinal-arch-angle-presents-significant-differences-between-foot-types-a-biplane-fluoroscopy-study
#16
Megan E R Balsdon, Kristen M Bushey, Colin E Dombroski, Marie-Eve LeBel, Thomas R Jenkyn
The structure of the medial longitudinal arch (MLA) affects the foot's overall function and its ability to dissipate plantar pressure forces. Previous research on the MLA includes measuring the calcaneal-first metatarsal angle using a static sagittal plane radiograph, a dynamic height-to-length ratio using marker clusters with a multisegment foot model, and a contained angle using single point markers with a multisegment foot model. The objective of this study was to use biplane fluoroscopy to measure a contained MLA angle between foot types: pes planus (low arch), pes cavus (high arch), and normal arch...
October 1, 2016: Journal of Biomechanical Engineering
https://www.readbyqxmd.com/read/27535629/single-stage-posterolateral-transpedicular-approach-with-360-degree-stabilization-and-vertebrectomy-in-primary-and-metastatic-tumors-of-the-spine
#17
Yurdal Gezercan, Gökhan Çavuş, Ali Ihsan Ökten, Güner Menekşe, Mustafa Çikili, Fulya Adamhasan, Ali Arslan, Vedat Açik
OBJECTIVE: Currently, anterior, posterior or combined approaches are used in various spinal disorders. However, a single-stage posterolateral transpedicular approach with 360-degree stabilization and vertebrectomy provides better results for spinal tumors. METHODS: We evaluated the age, gender distribution, presenting symptoms, neurological examination findings according to the pre- and post-operative Frankel classification, pre- and post-operative VAS pain scores, pre-operatively administered medical therapies, pre- and post-operative corset use, level of the lesion, levels of previous surgical interventions, root ligation (if performed), results of the primary disease, hospitalization duration (after the operation), post-operative complications (if any), post-operative follow-up duration and post-operative survival duration of 22 patients...
August 12, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27525405/-the-first-monkey-malaria-in-turkey-a-case-of-plasmodium-knowlesi
#18
Ahmet Özbilgin, İbrahim Çavuş, Ahmet Yıldırım, Cumhur Gündüz
Plasmodium knowlesi is now added to the known four Plasmodium species (P.vivax, P.falciparum, P.malariae, P.ovale) as a cause of malaria in humans because of the recent increasing rate of cases reported from countries of southeastern Asia. P.knowlesi which infects macaque monkeys (Macaca fascicularis and M.nemestrina) is transmitted to humans especially by Anopheles leucosphyrus and An.hackeri mosquitos. First human cases of P.knowlesi malaria have been detected in Malaysia which have reached high numbers in recent years and also have been reported from countries of Southeast Asia such as Thailand, Philippines, Myanmar, Singapore and Vietnam...
July 2016: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/27524705/minimally-invasive-osteotomies-of-the-calcaneus
#19
REVIEW
Gregory P Guyton
Osteotomies of the calcaneus are powerful surgical tools, representing a critical component of the surgical reconstruction of pes planus and pes cavus deformity. Modern minimally invasive calcaneal osteotomies can be performed safely with a burr through a lateral incision. Although greater kerf is generated with the burr, the effect is modest, can be minimized, and is compatible with many fixation techniques. A hinged jig renders the procedure more reproducible and accessible.
September 2016: Foot and Ankle Clinics
https://www.readbyqxmd.com/read/27488108/-ponseti-method-for-treatment-of-idiopathic-clubfoot
#20
K Heck, A Heck, R Placzek
OBJECTIVE: Pain-free, plantigrade, functional foot through gentle manipulation without extended surgery and with decreased probability of relapse. INDICATIONS: Idiopathic clubfoot; neurogenic and secondary clubfeet. CONTRAINDICATIONS: None. SURGICAL TECHNIQUE: Simultaneous correction of all components of the clubfoot. Mainly conservative, with serial casts. Slight supination to address the cavus and increasing abduction to align the midfoot bones while putting counter-pressure on the head of the talus...
December 2016: Operative Orthopädie und Traumatologie
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