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https://www.readbyqxmd.com/read/29156168/new-fixation-methods-for-the-treatment-of-the-diabetic-foot-beaming-external-fixation-and-beyond
#1
REVIEW
Roberto A Brandão, Jeffrey S Weber, David Larson, Mark A Prissel, Patrick E Bull, Gregory C Berlet, Christopher F Hyer
Surgical correction of complex foot and ankle deformities secondary to Charcot neuroarthropathy remains a significant surgical challenge. New technological advancements in hardware have allowed for the use of augmented fixation techniques in midfoot deformity correction, including the use of indication-specific locking plates and beaming techniques that offer enhanced stability. Severe hindfoot deformity management can employ the use of internal fixation, including intramedullary hindfoot nails and circular external fixation frames for limb salvage...
January 2018: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/29156160/treating-charcot-arthropathy-is-a-challenge-explaining-why-my-treatment-algorithm-has-changed
#2
REVIEW
Lawrence DiDomenico, Zachary Flynn, Michael Reed
Charcot deformity is a challenge that foot and ankle surgeons struggle to manage successfully. Despite the advances in knowledge, technology, and treatment modalities, limb loss is still greater than 10%. This article discusses the efficacy of conservative measures and traditional surgical approaches. It proposes a multidisciplinary team approach, medical optimization, and lifestyle modification to put the patient in the best position to heal. Also discussed is the authors' staged surgical treatment protocol to enhance outcomes and decrease the rate of limb loss...
January 2018: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/29154697/rate-of-subtalar-joint-arthrodesis-after-retrograde-tibiotalocalcaneal-arthrodesis-with-intramedullary-nail-fixation-evaluation-of-the-rain-database
#3
Michael Dujela, Christopher F Hyer, Gregory C Berlet
BACKGROUND: Hindfoot arthritis or significant deformity involving the ankle and subtalar joint (STJ) is a disabling condition with few salvage options. Many surgeons note a decreased STJ fusion rate compared with ankle union when a retrograde nail construct is used. The purpose of this study was to report the STJ fusion rate of tibiotalocalcaneal (TTC) arthrodesis with retrograde nail. METHODS: A chart and radiographic review was performed. TTC fusions performed in patients with osteoarthritis, posttraumatic arthritis, or deformity correction with retrograde nail fixation were included...
November 1, 2017: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/29153916/a-case-with-cmtx1-disease-showing-transient-ischemic-attack-like-episodes
#4
Zehra Aktan, Nihan Hande Akcakaya, Pinar Tekturk, Engin Deniz, Bahar Koyuncu, Zuhal Yapici
Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents...
November 9, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29151092/conversion-factitious-disorder-and-malingering-a-distinct-pattern-or-a-continuum
#5
Silvio Galli, Laurent Tatu, Julien Bogousslavsky, Selma Aybek
This chapter is aimed at highlighting the recent findings concerning physiopathology, diagnosis, and management of conversion, factitious disorder, and malingering. Conversion disorder is the unintentional production of neurological symptom, whereas malingering and factitious disorder represent the voluntary production of symptoms with internal or external incentives. They have a close history and this has been frequently confounded. Practitioners are often confronted to medically unexplained symptoms; they represent almost 30% of neurologist's consultation...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29145857/treatment-of-charcot-neuroarthropathy-and-osteomyelitis-of-the-same-foot-a-retrospective-cohort-study
#6
Martin Berli, Lazaros Vlachopoulos, Sabra Leupi, Thomas Böni, Charlotte Baltin
BACKGROUND: We evaluated treatment of osteomyelitis in the foot in the presence of Charcot neuroarthropathy, a devastating condition with progressive degeneration and joint destruction. We hypothesized that there was a difference in (1) amputation rate, (2) amputation level, (3) duration of antibiotic therapy, and (4) duration of immobilization for treatment of osteomyelitis within versus outside the Charcot zone. METHODS: Forty patients (43 ft) diagnosed with Charcot neuroarthropathy and osteomyelitis of the same foot were retrospectively analyzed...
November 16, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29141594/hepatic-paragonimiasis-in-a-15-month-old-girl-a-case-report
#7
Zongrong Gong, Zhicheng Xu, Chuanfen Lei, Chaomin Wan
BACKGROUND: Paragonimiasis, particularly hepatic paragonimiasis (HP), is a type of zoonotic parasitic disease rarely encountered in infants. There have been only a few reports of HP, and no case of HP has been reported in an infant. CASE PRESENTATION: A 15-month-old girl presented with persistent mild fever with a duration of 1 month, hepatomegaly, and low-density lesions in the right hepatic lobe on abdominal ultrasound and computer tomography. Pathological examination and serum antibody detection were performed to verify HP...
November 15, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29139387/-charcot-marie-tooth-disease-principles-of-rehabilitation-physiotherapy-and-occupational-therapy
#8
Patrick Sautreuil, Delphine Delorme, Anne Baron, Michèle Mane, Besma Missaoui, Philippe Thoumie
No abstract text is available yet for this article.
November 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/29136549/the-spectrum-of-charcot-marie-tooth-disease-due-to-myelin-protein-zero-an-electrodiagnostic-nerve-ultrasound-and-histological-study
#9
Gian Maria Fabrizi, Stefano Tamburin, Tiziana Cavallaro, Ilaria Cabrini, Moreno Ferrarini, Federica Taioli, Francesca Magrinelli, Giampietro Zanette
OBJECTIVE: Nerve ultrasound (US) data on myelin protein zero (MPZ)-related Charcot-Marie-Tooth disease (CMT) are lacking. To offer a comprehensive perspective on MPZ-related CMTs, we combined nerve US with clinics, electrodiagnosis and histopathology. METHODS: We recruited 36 patients (12 MPZ mutations), and correlated nerve US to clinical, electrodiagnostic measures, and sural nerve biopsy. RESULTS: According to motor nerve conduction velocity (MNCV) criteria, nine patients were categorized as "demyelinating" CMT1B, 17 as "axonal" CMT2I/J, and 10 as dominant "intermediate" CMTDID...
October 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29133339/decreased-ceramide-underlies-mitochondrial-dysfunction-in-charcot-marie-tooth-2f
#10
Nicholas U Schwartz, Ryan W Linzer, Jean-Philip Truman, Mikhail Gurevich, Yusuf A Hannun, Can E Senkal, Lina M Obeid
Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neurologic disorder, but its molecular mechanisms remain unclear. One variant of CMT, 2F, is characterized by mutations in heat shock protein 27 (Hsp27). As bioactive sphingolipids have been implicated in neurodegenerative diseases, we sought to determine if their dysregulation is involved in CMT. Here, we show that Hsp27 knockout mice demonstrated decreases in ceramide in peripheral nerve tissue and that the disease-associated Hsp27 S135F mutant demonstrated decreases in mitochondrial ceramide...
November 13, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29130394/alterations-of-autophagy-in-the-peripheral-neuropathy-charcot-marie-tooth-type-2b
#11
David Colecchia, Mariangela Stasi, Margherita Leonardi, Fiore Manganelli, Maria Nolano, Bianca Maria Veneziani, Lucio Santoro, Eeva-Liisa Eskelinen, Mario Chiariello, Cecilia Bucci
Charcot-Marie-Tooth type 2B (CMT2B) disease is a dominant axonal peripheral neuropathy caused by 5 mutations in the RAB7A gene, a ubiquitously expressed GTPase controlling late endocytic trafficking. In neurons, RAB7A also controls neuronal-specific processes such as NTF (neurotrophin) trafficking and signaling, neurite outgrowth and neuronal migration. Given the involvement of macroautophagy/autophagy in several neurodegenerative diseases and considering that RAB7A is fundamental for autophagosome maturation, we investigated whether CMT2B-causing mutants affect the ability of this gene to regulate autophagy...
November 13, 2017: Autophagy
https://www.readbyqxmd.com/read/29129314/tibiotalocalcaneal-arthrodesis-with-the-hindfoot-arthrodesis-nail-a%C3%A2-prospective-consecutive-series-from-a-single-institution
#12
Bing Howe Lee, Christopher Fang, Remesh Kunnasegaran, Gowreeson Thevendran
Tibiotalocalcaneal arthrodesis (TTCA) is a salvage procedure. We report a series of 20 patients who underwent TTCA using an intramedullary nail. Of the 20 patients, 7 (35%) had diabetes mellitus. The patient experiences and outcomes were analyzed. Their mean age was 61.1 (range 39 to 78) years. The minimum follow-up period was 13 (mean 28, range 13 to 49) months. Surgical indications included diabetic Charcot arthropathy in 7 (35%), hindfoot osteoarthritis in 10 (50%), and severe equinovarus deformity in 3 (15%)...
November 9, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29127354/clinical-and-molecular-characterization-of-pmp22-point-mutations-in-taiwanese-patients-with-inherited-neuropathy
#13
Yi-Chu Liao, Pei-Chien Tsai, Thy-Sheng Lin, Cheng-Tsung Hsiao, Nai-Chen Chao, Kon-Ping Lin, Yi-Chung Lee
Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsy (HNPP). To investigate the mutation spectrum of PMP22 in Han-Chinese population residing in Taiwan, 53 patients with molecularly unassigned demyelinating CMT and 52 patients with HNPP-like neuropathy of unknown genetic causes were screened for PMP22 mutations by Sanger sequencing. Three point mutations were identified in four patients with demyelinating CMT, including c...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of%C3%A2-neuromuscular-diseases-a-systematic-literature-review
#14
Erik Landfeldt, Josefin Edström, Peter Lindgren, Hanns Lochmüller
BACKGROUND: Treatment decisions of neuromuscular diseases involve weighing clinical benefits and risks, as well as impact on patient social life, work status, other activities of daily living, and health-related quality of life. OBJECTIVE: To conduct a systemic literature review of patient preferences for treatments of neuromuscular diseases. METHODS: We searched Embase, Web of Science, and PubMed for full-text articles reporting results from studies of patient preferences for treatments of neuromuscular diseases...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29124833/a-nonstop-variant-in-reep1-causes-peripheral-neuropathy-by-unmasking-a-3-utr-encoded-aggregation-inducing-motif
#15
Andrea S Bock, Sven Günther, Julia Mohr, Lisa V Goldberg, Amir Jahic, Cornelia Klisch, Christian A Hübner, Saskia Biskup, Christian Beetz
Single nucleotide variants that abolish the stop codon ('nonstop' alterations) are a unique type of substitution in genomic DNA. Whether they confer instability of the mutant mRNA or result in expression of a C-terminally extended protein depends on the absence or presence of a downstream in-frame stop codon, respectively. Of the predicted protein extensions, only few have been functionally characterized. In a family with autosomal dominant Charcot-Marie-Tooth disease type 2, i.e. an axonopathy affecting sensory neurons as well as lower motor neurons, we identified a heterozygous nonstop variant in REEP1...
November 9, 2017: Human Mutation
https://www.readbyqxmd.com/read/29111421/substitution-impact-of-highly-conserved-arginine-residue-at-position-75-in-gjb1-gene-in-association-with-x-linked-charcot-marie-tooth-disease-a-computational-study
#16
Ashish Kumar Agrahari, Amit Kumar, Siva R, Hatem Zayed, George Priya Doss C
X-linked Charcot-Marie-Tooth type 1 X (CMTX1) disease is a subtype of Charcot-Marie-Tooth (CMT), which is mainly caused by mutations in the GJB1 gene. It is also known as connexin 32 (Cx32) that leads to Schwann cell abnormalities and peripheral neuropathy. CMTX1 is considered as the second most common form of CMT disease. The aim of this study is to computationally predict the potential impact of different single amino acid substitutions at position 75 of Cx32, from arginine (R) to proline (P), glutamine (Q) and tryptophan (W)...
October 28, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/29101144/charcot-marie-tooth-disease-in-denmark-a-nationwide-register-based-study-of-mortality-prevalence-and-incidence
#17
Signe Vaeth, Michael Vaeth, Henning Andersen, Rikke Christensen, Uffe Birk Jensen
OBJECTIVES: Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system, yet no studies have compared the mortality in patients with CMT with that of the general population, and prevalence estimates vary considerably. We performed a nationwide register-based study to investigate the prevalence, incidence and mortality of CMT in Denmark. DESIGN: We used the Danish National Patient Registry to select all records with primary diagnostic codes for CMT between 1977 and 2012 given at a neurological, neurophysiological, paediatric or clinical genetic clinic...
November 3, 2017: BMJ Open
https://www.readbyqxmd.com/read/29098106/a-rare-case-of-idiopathic-plastic-bronchitis
#18
Mohammed Raoufi, Leila Achachi, Fatima Zahra Mrabet, Laila Herrak, Mustapha El Ftouh, Najoua Bourhroum, Nezha Ouazzani Taibi
Plastic bronchitis is a rare disorder characterized by formation of large, branching bronchial casts, which are often expectorated. We present an interesting case of a 35-year-old woman who presented for evaluation of a chronic cough productive of voluminous secretions. Clinical and radiological examination confirmed a total left lung atelectasis without any pathological mediastinal node. Flexible bronchoscopy demonstrated tenacious, thick, and sticky whitish secretions blocking the left stem bronchus. This material was extracted, and inspection demonstrated a bronchial cast, whose pathological analysis revealed necrotic epithelial cells, some eosinophils, and Charcot-Leyden crystals...
2017: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/29096547/body-composition-and-its-association-with-physical-performance-quality-of-life-and-clinical-indictors-in-charcot-marie-tooth-disease-a-pilot-study
#19
Daniel Hackett, Daniel Roberts-Clarke, Nidhi Jain, Yorgi Mavros, Guy C Wilson, Mark Halaki, Joshua Burns, Garth Nicholson, Maria Fiatarone Singh, Che Fornusek
AIM: To investigate whether the amount and distribution of lean body mass and fat mass is associated with disease severity in adults with Charcot-Marie Tooth. METHODS: Ten participants (age 46 ± 13 y, height 1.7 ± 0.1 m, and body mass 77 ± 17 kg) with Charcot-Marie Tooth disease were involved in this study. Participants were evaluated for quality of life, falls efficacy, balance, mobility, muscle strength, and power. Body composition was measured using dual energy x-ray absorptiometry...
November 2, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29096337/viability-of-permanent-pmma-spacer-with-combined-free-fasciocutaneous-tissue-transfer-for-failed-charcot-reconstruction-a-38-month-prospective-case-report
#20
Tammer Elmarsafi, John S Steinberg, Paul J Kim, Christopher E Attinger, Karen K Evans
INTRODUCTION: Charcot Neuroarthropathy is a complex lower extremity pathology which predisposes the afflicted limb to ulcerations, osteomyelitis, and risk of major amputation. Charcot Neuroarthropathy often requires osseous reconstruction, which can be complicated with osteomyelitis and hardware infection. When soft tissue and osseous deficits must be concomitantly addressed, the use of PMMA spacers can be combined with free tissue transfers. PRESENTATION OF CASE: 71year old Caucasian male with Diabetic Charcot Neuroarthopathy underwent osseous reconstruction with internal hardware...
October 4, 2017: International Journal of Surgery Case Reports
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