keyword
MENU ▼
Read by QxMD icon Read
search

Charcot neuropathy

keyword
https://www.readbyqxmd.com/read/29771329/regulation-of-the-neuropathy-associated-pmp22-gene-by-a-distal-super-enhancer
#1
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
#2
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/29746360/laxative-induced-contact-dermatitis
#3
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
#4
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
#5
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
#6
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/29729594/motor-unit-number-index-correlates-with-disability-in-charcot-marie-tooth-disease
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/29713425/follow-up-of-mri-bone-marrow-edema-in-the-treated-diabetic-charcot-foot-a-review-of-patient-charts
#12
Ernst-A Chantelau, Sofia Antoniou, Brigitte Zweck, Patrick Haage
Background : Ill-defined areas of water-like signal on bone magnetic resonance imaging (MRI), characterized as bone marrow edema or edema-equivalent signal-changes (EESC), is a hallmark of active-stage pedal neuro-osteoarthropathy (Charcot foot) in painless diabetic neuropathy, and is accompanied by local soft-tissue edema and hyperthermia. The longitudinal effects on EESC of treating the foot in a walking cast were elucidated by reviewing consecutive cases of a diabetic foot clinic. Study design : Retrospective observational study, chart review Material and methods : Cases with active-stage Charcot foot were considered, in whom written reports on baseline and follow-up MRI studies were available for assessment...
2018: Diabetic Foot & Ankle
https://www.readbyqxmd.com/read/29710024/-transient-recurrent-white-matter-lesions-in-x-linked-charcot-marie-tooth-disease-with-heterozygote-mutation-of-gjb1-gene-case-report-of-a-female-patient
#13
Makoto Takemaru, Yutaka Shimoe, Kota Sato, Akihiro Hashiguchi, Hiroshi Takashima, Masaru Kuriyama
A 32-year-old woman showed transient central type facial nerve palsy and bulbar symptoms. Brain MRI revealed high intensity signals in the cerebral white matter, splenium of corpus callosum, and posterior limb of internal capsule. Two elder brothers of the patient had distal dominant peripheral neuropathies in four limbs. In this family, the point mutation of GJB1 gene, encoding connexin 32, was revealed and X-linked Charcot-Marie-Tooth disease (CMTX1) was diagnosed. The presented case was a heterozygote of this mutation...
April 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29706256/primary-total-hip-arthroplasty-for-charcot-arthropathy-is-associated-with-high-complications-but-improved-clinical-outcomes
#14
Brian P Chalmers, Meagan E Tibbo, Robert T Trousdale, David G Lewallen, Daniel J Berry, Matthew P Abdel
BACKGROUND: Neuropathic (Charcot) arthropathy of the hip is rare but can lead to joint destruction, bone loss, and dysfunction. While total hip arthroplasty (THA) may be considered a treatment option, only very limited data in the form of case reports are available on the results of THA. The goal of this study was to analyze the outcomes of primary THA for Charcot arthropathy with emphasis on implant survivorship, complications, and clinical outcomes. METHODS: Eleven patients undergoing 12 primary THAs for Charcot arthropathy from 2007 to 2014 were retrospectively reviewed...
April 10, 2018: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#15
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29687021/myelin-protein-zero-mutations-and-the-unfolded-protein-response-in-charcot-marie-tooth-disease-type-1b
#16
Yunhong Bai, Xingyao Wu, Kathryn M Brennan, David S Wang, Maurizio D'Antonio, John Moran, John Svaren, Michael E Shy
Objective: To determine the prevalence of MPZ mutations that cause Charcot Marie Tooth neuropathy type 1B (CMT1B) and activate the unfolded protein Response (UPR). Background: CMT1B is caused by >200 heterozygous mutations in MPZ , the major protein in peripheral nerve myelin. Mutations Ser63del MPZ and Arg98Cys MPZ cause the mutant protein to be retained in the ER and activate the generally adaptive UPR. Treatments that modulate UPR activation have improved cellular and rodent models of CMT1B raising the possibility that other MPZ mutations that activate the UPR would also respond favorably to similar treatment...
April 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29674285/evaluation-of-muscle-strength-balance-and-functionality-of-individuals-with-type-2-charcot-marie-tooth-disease
#17
Iandra Maria Pinheiro de França Costa, Paula Santos Nunes, Eduardo Luis de Aquino Neves, Lidiane Carine Lima Santos Barreto, Catarina Andrade Garcez, Cynthia Coelho Souza, Paulo Márcio Pereira Oliveira, Luiz Augusto Sales Ferreira, Viviane Nascimento Brandão Lima, Adriano Antunes de Souza Araújo
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is part of a group of genetically determined neuropathies. The intrinsic muscles of the feet and legs are affected early in the disease, impacting balance and mobility. RESEARCH QUESTION: The purpose of this study was to evaluate individuals with type 2 Charcot-Marie-Tooth disease to understand how motor changes interfere in balance and function. METHODS: The sample comprised 15 individuals with CMT2 from the same family (CMT2G) and a control group (CG) of healthy individuals matched for age and gender...
April 5, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29670510/differential-expression-of-several-mirnas-and-the-host-genes-aatk-and-dnm2-in-leukocytes-of-sporadic-als-patients
#18
Katarina Vrabec, Emanuela Boštjančič, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Janez Zidar, Boris Rogelj, Damjan Glavač, Metka Ravnik-Glavač
Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including C1orf61 (miR-9), AATK (miR-338), and DNM2 (miR-638), in leukocyte samples of 84 patients with sporadic ALS...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29661920/dhtkd1-deficiency-causes-charcot-marie-tooth-disease-in-mice
#19
Wang-Yang Xu, Houbao Zhu, Yan Shen, Ying-Han Wan, Xiao-Die Tu, Wen-Ting Wu, Lingyun Tang, Hong-Xin Zhang, Shun-Yuan Lu, Xiao-Long Jin, Jian Fei, Zhu-Gang Wang
DHTKD1, a part of 2-ketoadipic acid dehydrogenase complex, is involved in lysine and tryptophan catabolism. Mutations in DHTKD1 block the metabolic pathway and cause 2-aminoadipic and 2-oxoadipic aciduria (AMOXAD), an autosomal recessive inborn metabolic disorder. In addition, a nonsense mutation in DHTKD1 we identified previously causes Charcot-Marie-Tooth disease (CMT) type 2Q, one of the most common inherited neurological disorders affecting the peripheral nerves in the musculature. However, the comprehensive molecular mechanism underlying CMT2Q remains elusive...
April 16, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29626178/unique-clinical-and-neurophysiologic-profile-of-a-cohort-of-children-with-cmtx3
#20
Manoj Kanhangad, Kayla Cornett, Megan H Brewer, Garth A Nicholson, Monique M Ryan, Robert L Smith, Gopinath M Subramanian, Helen K Young, Stephan Züchner, Marina L Kennerson, Joshua Burns, Manoj P Menezes
OBJECTIVE: To describe in detail the clinical profile of Charcot-Marie-Tooth disease subtype 3 (CMTX3) to aid appropriate genetic testing and rehabilitative therapy. METHODS: We reviewed the clinical and neurophysiologic profile and CMT Pediatric Scale (CMTPedS) assessments of 11 children with CMTX3. RESULTS: Compared with the more common forms of CMT, CMT1A and CMTX, CMTX3 was characterized by early onset with early and progressive hand weakness...
April 6, 2018: Neurology
keyword
keyword
93479
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"