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Charcot foot

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https://www.readbyqxmd.com/read/28527386/gait-patterns-of-children-and-adolescents-with-charcot-marie-tooth-disease
#1
Elizabeth Wojciechowski, Amy Sman, Kayla Cornett, Jacqueline Raymond, Kathryn Refshauge, Manoj P Menezes, Joshua Burns
Gait abnormalities reported in childhood Charcot-Marie-Tooth disease (CMT) include foot-drop, reduced ankle power at push-off and increased knee and hip flexion for swing clearance ('steppage-gait'). The purpose of this study was to describe the gait patterns of 60 children aged 6-17 years with CMT (CMTall) and distinguish differences based on functional weakness using the CMT Pediatric Scale (CMTPedS). Data were captured using Vicon Nexus system and compared to 50 healthy norms. Data were subdivided into three groups denoting increasing severity of dorsiflexion and plantarflexion weakness from the CMTPedS: no difficulty heel or toe walking (CMTND), difficulty heel walking (CMTDH), difficulty toe and heel walking (CMTDTH)...
May 8, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28511074/charcot-arthropathy-of-the-knee-after-unsuccessful-spinal-stenosis-surgery-a-case-report
#2
Melih Cıvan, Önder Yazıcıoğlu, Mehmet Çakmak, Turgut Akgül
INTRODUCTION: Charcot arthropathy was first described in 1868 by Jean Martin Charcot as a progressive and destructive joint disease. Diabetes, polyneuropathy, syphilis, syrengomyelia and chronic alcoholism are the main causes of the disease. In this study we present a Charcot arthropathy of the knee seen after unsuccessful spinal stenosis surgery. PRESENTATION OF CASE: We report here a case of 62 years old patient with Charcot arthropathy at her left knee developed one year after spinal stenosis surgery...
May 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28509084/whole-exome-sequencing-identifies-a-novel-homozygous-frameshift-mutation-in-the-mtmr2-gene-as-a-causative-mutation-in-a-patient-with-charcot-marie-tooth-disease-type-4b1
#3
Tameemi Abdalla-Moady, Amir Peleg, Orit Sadeh, Khader Badarneh, Fuad Fares
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from whole blood leukocytes of affected family and normal subject. Whole-exome sequencing was performed using the Illumina HiSeq2500. The DNA region containing the identified mutation was amplified by PCR and sequenced using dye-terminator chemistry and the forward primer...
May 16, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28507975/charcot-fracture-in-the-calcaneus-after-total-knee-arthroplasty-a-case-report
#4
Hirokazu Takai, Katsuhiko Kiyota, Nobutake Nakane, Tomoki Takahashi
INTRODUCTION: Only a few reports have described calcaneus fractures after total knee arthroplasty (TKA). Therefore, in this report, we describe a case of calcaneal avulsion fracture that occurred 5 weeks after a TKA in a relatively young male patient with syphilis. CASE REPORT: A 63-year-old man with syphilis had Charcot joint of the right knee. The patient developed severe varus deformity and contracture and experienced severe pain in the knee. TKA was performed to alleviate the pain and improve the patient's gait...
November 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28500867/hospitalization-for-charcot-neuroarthropathy-in-diabetes-a-population-study-in-italy
#5
Roberto Anichini, Laura Policardo, Flavia Lucia Lombardo, Elisabetta Salutini, Anna Tedeschi, Secondina Viti, Piergiorgio Francia, Enrico Brocco, Marina Maggini, Giuseppe Seghieri, Alessandra De Bellis
AIMS: To provide data on hospitalization and incidence rates of Charcot neuroarthropathy (CN) and its relation to lower limbs' amputations/revascularizations in population with diabetes of Italy as well as of one of its regions (Tuscany). METHODS: Hospitalizations with CN diagnosis (codes ICD-9-CM: 7130, 7135, 7138) have been recorded in people with diabetes over years 2003-2013 in Italy and 2008-2015 in Tuscany. Amputations, peripheral vascular disease, revascularizations and infections were likewise evaluated...
April 28, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28489810/a-case-report-of-hereditary-neuropathy-with-liability-to-pressure-palsies-accompanied-by-type-2-diabetes-mellitus-and-psoriasis
#6
Jing Li, Bing Niu, Xiaoling Wang, Huaiqiang Hu, Bingzhen Cao
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28476389/diabetic-driving-studies-part-3-a-comparison-of-mean-brake-response-time-between-neuropathic-diabetic-drivers-with-and-without-foot-pathology
#7
Laura E Sansosti, Kerianne E Spiess, Andrew J Meyr
We have previously demonstrated an abnormally delayed mean brake response time and an increased frequency of abnormally delayed brake responses in a group of neuropathic diabetic drivers compared with a control group of drivers with neither diabetes nor lower extremity neuropathy. The objective of the present case-control study was to compare the mean brake response time between neuropathic diabetic drivers with and without specific diabetic foot pathology. The braking performances of the participants were evaluated using a computerized driving simulator with specific measurement of the mean brake response time and the frequency of abnormally delayed brake responses...
May 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28448704/-retrograde-intramedullary-nail-fixation-for-charcot-neuroarthropathy
#8
E López-Gavito, N A Gómez-Fuentes, P Parra-Téllez, M Lezama-Peniche, J Vázquez-Escamilla, S R León-Hernández
Charcot arthropathy is defined as an articular degenerative, chronic, progressive disease that affects one or more peripheral joints, develops as a result of a failure in the normal sensory perception (pain and proprioception) in the innervation of joints located in the foot and ankle, is characterized by destructive bone lesions without the presence of infection. Neuropathy is directly associated with diabetes mellitus type 1 and 2. Surgery is indicated when there is severe involvement of soft tissue, foot joints are unstable, at the presence of chronic or recurrent ulcers or when the foot and ankle can not fit to a normal shoe, and had limitation to perform activities of daily living...
September 2016: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/28448691/clinical-characterization-and-genetic-analysis-of-korean-patients-with-x-linked-charcot-marie-tooth-disease-type-1
#9
Young Bin Hong, Jin-Mo Park, Jin Seok Yu, Da Hye Yoo, Da Eun Nam, Hyung Jun Park, Ji-Su Lee, Sun Hee Hwang, Ki Wha Chung, Byung-Ok Choi
Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28440774/diagnostic-and-therapeutic-update-on-diabetic-foot-osteomyelitis
#10
José Luis Lázaro-Martínez, Aroa Tardáguila-García, José Luis García-Klepzig
Diabetic foot osteomyelitis (DFO) is the most common infection associated to diabetic foot ulcers (DFU). This review is designed to provide an update on the diagnosis and treatment of DFO based on an analysis of MEDLINE through PubMed using as search criterion "Diabetic Foot Osteomyelitis". Authors have included in this review the most relevant manuscripts regarding diagnosis and treatment of DFO. After review and critical analysis of publications, it may be concluded that diagnosis of DFO is not simple because of its heterogeneous presentation...
February 2017: Endocrinol Diabetes Nutr
https://www.readbyqxmd.com/read/28397549/functional-impairment-of-patients-undergoing-surgical-correction-for-charcot-foot-arthropathy
#11
Ellen Kroin, Adam Schiff, Michael S Pinzur, Elissa S Davis, Edwin Chaharbakhshi, Frank A DiSilvio
BACKGROUND: Investigations using the Medical Outcomes Study Short Form 36 Healthy Survey (SF-36) and the American Orthopaedic Foot & Ankle Society Diabetic Foot Questionnaire (AOFAS-DFQ) have demonstrated a poor quality of life in patients with Charcot foot arthropathy. The Short Musculoskeletal Function Assessment (SMFA) questionnaire has been widely used in patients with a broad range of musculoskeletal disorders. METHODS: Twenty-five consecutive patients undergoing operative correction for diabetes-related Charcot foot arthropathy of the midfoot completed the SMFA prior to undergoing surgery...
April 1, 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/28379183/rapid-identification-of-pathogenic-variants-in-two-cases-of-charcot-marie-tooth-disease-by-gene-panel-sequencing
#12
Chi-Chun Ho, Shuk-Mui Tai, Edmond Chi-Nam Lee, Timothy Shin-Heng Mak, Timothy Kam-Tim Liu, Victor Wai-Lun Tang, Wing-Tat Poon
Charcot-Marie-Tooth disease (CMT) is a common inherited peripheral neuropathy affecting up to 1 in 1214 of the general population with more than 60 nuclear genes implicated in its pathogenesis. Traditional molecular diagnostic pathways based on relative prevalence and clinical phenotyping are limited by long turnaround time, population-specific prevalence of causative variants and inability to assess multiple co-existing variants. In this study, a CMT gene panel comprising 27 genes was used to uncover the pathogenic mutations in two index patients...
April 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28356555/prevalence-of-polymorphisms-in-opg-rankl-and-rank-as-potential-markers-for-charcot-arthropathy-development
#13
Bożena Bruhn-Olszewska, Anna Korzon-Burakowska, Grzegorz Węgrzyn, Joanna Jakóbkiewicz-Banecka
Charcot arthropathy is one of the most serious complications of diabetic foot syndrome that leads to amputation of the affected limb. Since there is no cure for Charcot arthropathy, early diagnosis and implementation preventive care are the best available treatment. However, diagnosis is hindered by obscure clinical picture of the disease and lack of molecular markers for its early detection. Results of recent research suggest that OPG-RANKL-RANK axis regulating bone metabolism can be associated with Charcot arthropathy and that SNPs in OPG gene are associated with the disease...
March 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28336046/charcot-arthropathy-versus-osteomyelitis-evaluation-and-management
#14
REVIEW
John Womack
Charcot arthropathy of the foot and ankle is a severe complication of peripheral neuropathy and is most commonly seen in the developed world in association with diabetes mellitus. Correct diagnosis and differentiation from osteomyelitis of the foot and ankle are critical to guide treatment. It can exist concomitantly with osteomyelitis, typically in the setting of an advanced midfoot ulcer. Simple plain radiographs and contrasted MRI studies often yield inconclusive or confusing data. Correct use of imaging studies and a clinical algorithm can be effective tools to help make accurate and early diagnoses and guide clinical interventions for these conditions...
April 2017: Orthopedic Clinics of North America
https://www.readbyqxmd.com/read/28325064/diabetic-foot-complications-despite-successful-pancreas-transplantation
#15
Dong-Kyo Seo, Ho Seong Lee, Jungu Park, Chang Hyun Ryu, Duck Jong Han, Sang Gyo Seo
BACKGROUND: It is known that successful pancreas transplantation enables patients with diabetes to maintain a normal glucose level without insulin and reduces diabetes-related complications. However, we have little information about the foot-specific morbidity in patients who have undergone successful pancreas transplantation. The purpose of this study was to investigate the prevalence and predisposing factors for foot complications after successful pancreas transplantation. METHODS: This retrospective study included 218 patients (91 males, 127 females) who had undergone pancreas transplantation for diabetes...
March 1, 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/28264542/a-case-series-study-on-the-efficacy-of-functional-surgery-associated-with-early-intensive-rehabilitation-therapy-in-charcot-marie-tooth-type-1a-disease
#16
Francesco Ferraro, Barbara Dusina, Irene Carantini, Roberto Strambi, Emanuela Galante, Luca Gaiani
BACKGROUND: Charcot-Marie-Tooth (CMT) is a genetically and clinically heterogeneous disorder, and it is caused by alterations in genes with different loci that encode for proteins, resulting into metabolic and structural defects. The most common form of the disease is CMT1A. Treatment of the disease, due to the absence of an effective pharmacological therapy, mainly relies on surgical treatment and rehabilitative therapy. However, the Literature is still poor of evidences on this subject...
March 6, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28257680/surgical-correction-of-the-achilles-tendon-for-diabetic-foot-ulcerations-and-charcot-neuroarthropathy
#17
REVIEW
Crystal L Ramanujam, Thomas Zgonis
Achilles tendon pathologic conditions are implicated in contributing to the development of many diabetic foot complications including diabetic foot ulceration and Charcot neuroarthropathy. Surgical correction of the diabetic equinus deformity has been studied as an isolated or adjunctive treatment when dealing with difficult-to-close diabetic foot ulcerations or when surgically addressing the diabetic Charcot neuroarthropathy foot or ankle. This article reviews the most common indications, complications, and surgical procedures for equinus correction by either a tendo-Achilles lengthening or gastrocnemius recession for the management of diabetic foot conditions...
April 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/28254346/persistent-inflammation-with-pedal-osteolysis-1year-after-charcot-neuropathic-osteoarthropathy
#18
David R Sinacore, Kathryn L Bohnert, Kirk E Smith, Mary K Hastings, Paul K Commean, David J Gutekunst, Jeffrey E Johnson, Fred W Prior
AIMS: To determine local and systemic markers of inflammation and bone mineral density (BMD) in the foot and central sites in participants with diabetes mellitus and peripheral neuropathy (DMPN) with and without acute Charcot neuropathic osteoarthropathy (CN). METHODS: Eighteen participants with DMPN and CN and 19 participants without CN had foot temperature assessments, serum markers of inflammation [C-reactive protein, (CRP) and erythrocyte sedimentation rate, (ESR)] and BMD of the foot, hip and lumbar spine at baseline and 1year follow-up...
June 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/28236508/phenotypical-features-of-a-new-dominant-gdap1-pathogenic-variant-p-r226del-in-axonal-charcot-marie-tooth-disease
#19
Tania García-Sobrino, Patricia Blanco-Arias, Francesc Palau, Carmen Espinós, Laura Ramirez, Anna Estela, Beatriz San Millán, Manuel Arias, María-Jesús Sobrido, Julio Pardo
There are few reports on axonal CMT due to dominant GDAP1 mutations. We describe two unrelated Spanish families with a dominant axonal CMT. A novel in frame GAA deletion in exon 5 of the GDAP1 gene (c.677_679del; p.R226del) was identified in both families. Disease onset varied from early childhood to adulthood. Affected family members complained of distal lower limb weakness, cramps and foot deformities with variable CMTNS score in both families. Several individuals were asymptomatic or had paraesthesia only, however neurological examination and nerve conduction studies demonstrated neuropathic signs...
January 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28231964/ilizarov-external-fixator-versus-retrograde-intramedullary-nailing-for-ankle-joint-arthrodesis-in-diabetic-charcot-neuroarthropathy
#20
Barakat ElAlfy, Ayman M Ali, Sallam I Fawzy
Charcot neuroarthropathy of the ankle joint is a destructive process that leads to instability and significant morbidity that can end with amputation. Surgical arthrodesis in Charcot neuroarthropathy has a high failure rate. The aim of the present prospective study was to compare the outcomes of an Ilizarov external fixator and retrograde intramedullary nailing (IMN) for tibiotalar arthrodesis in Charcot neuroarthropathy. From February 2010 to October 2013, 27 patients (16 males and 11 females) with Charcot neuropathy of the ankle joint were treated in our department...
March 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
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