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https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#1
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29782669/prevalence-of-active-charcot-disease-in-the-east-midlands-of-england
#2
L Metcalf, M Musgrove, J Bentley, R Berrington, D Bunting, M Mousley, J Thompson, M Sprengel, V Turtle-Savage, F Game, W Jeffcoate
AIMS: To undertake a prospective point prevalence study of the prevalence of active Charcot neuro-inflammatory osteoarthropathy (Charcot disease) in a circumscribed part of England and to audit the time elapsing between disease onset and first diagnosis. METHODS: The prevalence of active Charcot disease of the foot during a single month was assessed by specialist foot care teams at seven secondary care services in the East Midlands region of England. RESULTS: A total of 90 cases were identified, representing 4...
May 21, 2018: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/29780422/cochlear-implantation-in-charcot-marie-tooth-disease-case-report-and-review-of-the-literature
#3
C Lane Anzalone, Sarah Nuhanovic, Amy P Olund, Matthew L Carlson
Introduction: Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy associated with motor and sensory impairment and can result in profound sensorineural hearing loss (SNHL). Currently, the role of cochlear implantation in the setting of CMT and other progressive peripheral neurodegenerative disorders is not well established. Methods: Case report and review of the English literature. Results: A 70-year-old male with CMT was referred for evaluation of progressive asymmetric SNHL and reported a 15-year duration of deafness involving the left ear...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29772993/shoulder-lesion-in-a-69-year-old-woman
#4
Andrew J Hayden, Srinivas Kolla, Adele L Boskey, Steven Burekhovich, Chuanyong Lu, Michael Stracher, Aditya V Maheshwari
Milwaukee Shoulder Syndrome (MSS) is a painful progressive arthropathy in which hydroxyapatite crystal deposition in synovial tissue induces lysosomal release of collagenase and neutral proteases. These enzymes are destructive to periarticular tissue, including the synovium, articular cartilage, rotator cuff muscles, and the intrasynovial cortical bone. MSS predominantly occurring in women (90%) over the age of 70 years of age with a clinical history marked by recurrent joint effusions and pain, which classically worsens at night...
2018: Journal of Long-term Effects of Medical Implants
https://www.readbyqxmd.com/read/29771329/regulation-of-the-neuropathy-associated-pmp22-gene-by-a-distal-super-enhancer
#5
Harrison Pantera, John J Moran, Holly A Hung, Evgenia Pak, Amalia Dutra, John Svaren
Peripheral nerve myelination is adversely affected in the most common form of the hereditary peripheral neuropathy called Charcot-Marie-Tooth Disease. This form, classified as CMT1A, is caused by a 1.4 Mb duplication on chromosome 17, which includes the abundantly expressed Schwann cell myelin gene, Peripheral Myelin Protein 22 (PMP22). This is one of the most common copy number variants causing neurological disease. Overexpression of Pmp22 in rodent models recapitulates several aspects of neuropathy, and reduction of Pmp22 in such models results in amelioration of the neuropathy phenotype...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29763252/charcot-foot-clinical-clues-diagnostic-strategies-and-treatment-principles
#6
Valerie S Marmolejo, Jonathan F Arnold, Mario Ponticello, Charles A Anderson
Acute Charcot neuroarthropathy of the foot and ankle is often difficult to diagnose because of limited findings in the patient history, physical examination, imaging, and laboratory studies. Delay in treatment results in the development of rigid foot and ankle deformities, increasing the risk of ulceration, infection, and major lower extremity amputation. Acute Charcot neuroarthropathy should be suspected in any patient 40 years or older with obesity and peripheral neuropathy who presents with an acutely swollen foot following minimal or no recalled trauma and who reports minimal to no pain, particularly if radiography and laboratory markers of infection are normal...
May 1, 2018: American Family Physician
https://www.readbyqxmd.com/read/29755231/charcot-spinal-arthropathy
#7
REVIEW
Dennis Lee, Nader S Dahdaleh
Charcot spinal arthropathy (CSA) is a rare progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation with loss of deep pain and proprioceptive sensation in the vertebral column. While surgical circumferential arthrodesis remains the most effective treatment modality, it is associated with multiple complications, including hardware construct failure. This manuscript represents an up-to-date narrative review of the treatment of CSA, its associated complications, and complication prevention...
January 2018: Journal of Craniovertebral Junction and Spine
https://www.readbyqxmd.com/read/29749596/-jose-ingenieros-and-the-amusias-the-beginning-of-the-neuropsychology-in-argentina
#8
REVIEW
R F Allegri, F N Roman
The Argentine neuropsychological school is born of the hand of the European school and is part of the beginning of the Experimental Psychology. In 1896 Horacio Pinero creates the first Department of Psychology at the University of Buenos Aires and in 1898 the first laboratory of Experimental Psychology is annexed. Jose Ingeniero, psychiatrist, neurologist, politician and above all sociologist publishes in France his work about the musical aphasia, the first neuropsychological work with international significance...
May 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29748105/reliability-of-the-measurement-of-cuboid-height-in-midfoot-charcot-neuroarthropathy
#9
Shyam Sheth, Brian S Derner, Andrew J Meyr
Cuboid height is a quantitative radiographic measurement of the relationship of the inferior cuboid to the plantar osseous plane of the lateral column of the foot and might be associated with poor clinical outcomes in patients with midfoot Charcot neuroarthropathy. We evaluated the reliability of the cuboid height measured by a group of foot and ankle surgeons on subjects with midfoot Charcot neuroarthropathy. Ten board-certified foot and ankle surgeons, 10 residents, and 10 medical students measured the cuboid height on 11 lateral weightbearing radiographic projections of subjects with midfoot Charcot neuroarthropathy...
May 7, 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29746360/laxative-induced-contact-dermatitis
#10
Jennifer E Melvin, Robert W Hickey
A 5-year-old female with Charcot-Marie-Tooth neuropathy and a history of constipation presented to the emergency department with a new blistering buttocks rash, which was initially concerning for nonaccidental burn. Upon further investigation, it was found that Ex-Lax had been given to the patient for constipation. This had resulted in a bowel movement, which led to an irritant dermatitis. The patient was eventually diagnosed with senna-induced erosive diaper dermatitis. This case report highlights the importance of a thorough history and physical examination to prevent an unnecessary child abuse work-up...
May 9, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29745908/local-use-of-granulocyte-macrophages-colony-stimulating-factor-in-treatment-of-chronic-diabetic-neuropathic-ulcer-case-review
#11
E Karlafti, Ch Savopoulos, A Hatzitolios, T Didangelos
One of the main causes of amputations in patients with Diabetes Mellitus patients is a chronic diabetic foot ulcer. The authors present a clinical case and discussion of a successful use of Granulocyte-Macrophages Colony Stimulating Factor (GM-CSF) treatment for the promotion of healing of a chronic diabetic foot ulcer. A 65 year-old woman was admitted to the Diabetes Center with complaints of a deep non-healing chronic foot ulcer for the last 18 months. At the examination a 5 cm ulcer on the plantar surface of the right foot was revealed...
April 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29742619/loss-of-function-mutation-in-hippo-suppressed-enlargement-of-lysosomes-and-neurodegeneration-caused-by-dfig4-knockdown
#12
Yukie Kushimura, Yumiko Azuma, Ikuko Mizuta, Yuuka Muraoka, Akane Kyotani, Hideki Yoshida, Takahiko Tokuda, Toshiki Mizuno, Masamitsu Yamaguchi
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, and more than 80 CMT-causing genes have been identified to date. CMT4J is caused by a loss-of-function mutation in the Factor-Induced-Gene 4 (FIG4) gene, the product of which plays important roles in endosome-lysosome homeostasis. We hypothesized that Mammalian sterile 20-like kinase (MST) 1 and 2, tumor-suppressor genes, are candidate modifiers of CMT4J. We therefore examined the interaction between dFIG4 and Hippo (hpo), Drosophila counterparts of FIG4 and MSTs, respectively, using the Drosophila CMT4J model with the knockdown of dFIG4...
May 8, 2018: Neuroreport
https://www.readbyqxmd.com/read/29742248/pain-in-charcot-marie-tooth-disease-an-update
#13
Helen Azevedo, Camila Pupe, Rouse Pereira, Osvaldo J M Nascimento
Charcot-Marie-Tooth (CMT) disease, the most common inherited peripheral neuropathy, has pain as one of its clinical features, yet it remains underdiagnosed and undertreated. This literature review assessed data related to pain from CMT to determine its prevalence, type and importance as a symptom, which, unlike other symptoms, is likely to be treated. The research encompassed 2007 to 2017 and included five articles that addressed pain from CMT. All of the papers concurred that pain is frequently present in CMT patients, yet its classification remains undefined as there has been no consensus in the literature about the mechanisms that cause it...
April 2018: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29738310/historical-and-cross-cultural-perspectives-on-parkinson-s-disease
#14
Lee Xenakis Blonder
Parkinson's disease (PD) is a common neurodegenerative disorder, affecting up to 10 million people worldwide according to the Parkinson's Disease Foundation. Epidemiological and genetic studies show a preponderance of idiopathic cases and a subset linked to genetic polymorphisms of a familial nature. Traditional Chinese medicine and Ayurveda recognized and treated the illness that Western Medicine terms PD millennia ago, and descriptions of Parkinson's symptomatology by Europeans date back 2000 years to the ancient Greek physician Galen...
May 8, 2018: Journal of Complementary & Integrative Medicine
https://www.readbyqxmd.com/read/29729827/association-of-mir-149-polymorphism-with-onset-age-and-severity-in-charcot-marie-tooth-disease-type-1a
#15
Soo Hyun Nam, Sumaira Kanwal, Da Eun Nam, Min Hee Lee, Tae Hoon Kang, Sung-Chul Jung, Byung-Ok Choi, Ki Wha Chung
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by 1.5-fold increased dosage of the PMP22; however, onset age and severity vary considerably among patients. The exact reason behind these phenotypic heterogeneities has rarely been discovered yet. Because miRNAs are the key regulators of gene expression, we speculated that variants of miRNAs might be the genetic modifiers for CMT1A. This study noticed a common single nucleotide polymorphism (n.86T > C, rs2292832) in the miR-149 which was predicted to target several CMT causing genes including PMP22...
April 11, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29729594/motor-unit-number-index-correlates-with-disability-in-charcot-marie-tooth-disease
#16
Joachim Bas, Emilien Delmont, Farzad Fatehi, Emmanuelle Salort-Campana, Annie Verschueren, Jean Pouget, Marie-Noëlle Lefebvre, Aude-Marie Grapperon, Shahram Attarian
OBJECTIVE: The aim of this study was to assess the usefulness of motor unit number index (MUNIX) technique in Charcot-Marie-Tooth disease and test the correlation between MUNIX and clinical impairment. METHODS: MUNIX technique was performed in the abductor pollicis brevis (APB), the abductor digiti minimi (ADM) and the tibialis anterior (TA) muscles in the nondominant side. A MUNIX sum score was calculated by adding the MUNIX of these 3 muscles. Muscle strength was measured using the MRC (medical research council) scale...
April 16, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29725580/salient-features-and-outcomes-of-charcot-foot-an-often-overlooked-diabetic-complication-a-17-year-experience-at-a-diabetic-center-in-bangkok
#17
Yotsapon Thewjitcharoen, Jeeraphan Sripatpong, Wyn Parksook, Sirinate Krittiyawong, Sriurai Porramatikul, Taweesak Srikummoon, Somkiet Mahaudomporn, Soontaree Nakasatien, Thep Himathongkam
Background: Charcot foot is a rare but a serious diabetic condition. Recognition of this often overlooked condition to provide timely and proper management is important for a better prognosis. Limited data on Charcot foot was available in Asians. Aims: The aim of this study is to describe salient features and outcomes of Charcot foot in Thai patients. Method: We presented our experience of 40 cases of Charcot foot patients who were treated from 2000 to 2016 at Theptarin Hospital, Bangkok, Thailand...
March 2018: Journal of Clinical & Translational Endocrinology
https://www.readbyqxmd.com/read/29724652/a-novel-homozygous-ndrg1-mutation-in-a-chinese-patient-with-charcot-marie-tooth-disease-4d
#18
Bin Chen, Songtao Niu, Na Chen, Hua Pan, Xingao Wang, Zaiqiang Zhang
Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry. The patient presented with a 15-year-long history of progressive limb weakness accompanied by hearing loss and dysarthria. There was abnormal differentiation and increased interpeak latencies in brainstem auditory evoked potentials...
April 30, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29720545/multifocal-demyelinating-motor-neuropathy-and-hamartoma-syndrome-associated-with-a-de-novo-pten-mutation
#19
Boglarka Bansagi, Vietxuan Phan, Mark R Baker, Julia O'Sullivan, Matthew J Jennings, Roger G Whittaker, Juliane S Müller, Jennifer Duff, Helen Griffin, James A L Miller, Grainne S Gorman, Hanns Lochmüller, Patrick F Chinnery, Andreas Roos, Laura E Swan, Rita Horvath
OBJECTIVE: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog ( PTEN ), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases. METHODS: We performed whole-exome sequencing in the patient's genomic DNA validated by Sanger sequencing...
May 2, 2018: Neurology
https://www.readbyqxmd.com/read/29718187/mutations-in-coa7-cause-spinocerebellar-ataxia-with-axonal-neuropathy
#20
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima
Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations in COA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT...
April 27, 2018: Brain: a Journal of Neurology
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