keyword
https://read.qxmd.com/read/38350496/impact-of-static-foot-disorders-on-the-conservative-treatment-success-in-chronic-venous-disease-patients-without-wounds
#1
JOURNAL ARTICLE
Abdulkerim Özhan, Fatih Günaydın
OBJECTIVES: Chronic venous disease (CVD) and static foot disorders (SFD) are prevalent conditions that commonly cause lower extremity pain. These conditions share common factors such as age and weight in their etiology. This study aimed to investigate the impact of SFD on the treatment response of patients undergoing conservative treatment for CVD without wounds. MATERIALS AND METHODS: A retrospective evaluation was conducted on 328 patients (60 males, 268 females) with CVD...
February 11, 2024: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://read.qxmd.com/read/38179633/episodic-neurological-dysfunction-in-x-linked-charcot-marie-tooth-disease-expansion-of-the-phenotypic-and-genetic-spectrum
#2
JOURNAL ARTICLE
Feixia Zhan, Wotu Tian, Yuwen Cao, Jingying Wu, Ruilong Ni, Taotao Liu, Yun Yuan, Xinghua Luan, Li Cao
BACKGROUND AND PURPOSE: X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by peripheral neuropathy with or without episodic neurological dysfunction. We performed clinical, neuropathological, and genetic investigations of a series of patients with mutations of the gap-junction beta-1 gene ( GJB1 ) to extend the phenotypic and genetic description of CMTX1. METHODS: Detailed clinical evaluations, sural nerve biopsy, and genetic analysis were applied to patients with CMTX1...
January 2024: Journal of Clinical Neurology
https://read.qxmd.com/read/37873603/static-posturography-analysis-for-postural-instability-in-patients-with-parkinson-s-disease
#3
JOURNAL ARTICLE
Silvia Aparecida Ferreira-Peruzzo, Carlos Henrique F Camargo, Marise Bueno Zonta, Renata Ramina Pessoa, Renato Puppi Munhoz, Hélio A G Teive
Background: Parkinson's disease (PD) is initially characterized by a rigid-akinetic syndrome and later by the development of postural instability. This condition often leads to balance impairments, potentially resulting in postural deformities and foot asymmetry. This study aimed to assess balance changes in PD patients. Methods: We evaluated 56 PD patients and 30 controls using static posturography. The variables examined included foot type, the primary region of body weight distribution on the plantar surface, statokinesigram (center of pressure [COP]), and stabilogram (COP in the X- and Y-axes)...
October 24, 2023: International Journal of Neuroscience
https://read.qxmd.com/read/37849068/unveiling-the-clinical-and-electrophysiological-profile-of-cmtx6-insights-from-two-brazilian-families
#4
Victor Augusto Zanesi Maciel, Gustavo Maximiano-Alves, Rodrigo Siqueira Soares Frezatti, Anna Letícia De Moraes Alves, Bianca Mara Alves Andrade, Rita De Cassia Carvalho Leal, Pedro José Tomaselli, Mary M Reilly, Wilson Marques
BACKGROUND AND AIMS: X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) is an extremely rare condition associated with mutations in the PDK3 gene. To date, only three families from different countries have been reported (Australia, South Korea, and Germany). In this study, we sought to provide a comprehensive clinical and electrophysiological characterization of two Brazilian families. METHODS: We conducted comprehensive clinical assessments, extensive electrophysiological evaluations, and performed whole-exome sequencing in the probands to investigate the genetic basis of the disease...
October 17, 2023: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/37539437/understanding-foot-conditions-morphologies-and-functions-in-children-a-current-review
#5
Hanhui Jiang, Qichang Mei, Yuan Wang, Junhao He, Enze Shao, Justin Fernandez, Yaodong Gu
This study provided a comprehensive updated review of the biological aspects of children foot morphology across different ages, sex, and weight, aiming to reveal the patterns of normal and pathological changes in children feet during growth and development. This review article comprised 25 papers in total that satisfied the screening standards. The aim was to investigate how weight changes, age and sex affect foot type, and gain a deeper understanding of the prevalent foot deformities that occur during children growth...
2023: Frontiers in Bioengineering and Biotechnology
https://read.qxmd.com/read/37473796/identification-of-c-1495c%C3%A2-%C3%A2-t-mutation-in-spast-gene-in-a-family-of-han-chinese-with-hereditary-spastic-paraplegia
#6
JOURNAL ARTICLE
Xiaohong Chen, Xinming Li, Yu Tan, Dejiang Yang, Lijun Lu, Youqing Deng, Renshi Xu
BACKGROUND: Hereditary spastic paraplegia 4 (SPG4) caused by spastin (SPAST) gene mutations accounts for 40-45% of hereditary spastic paraplegia (HSP) cases. To search for more genetic evidences for the pathogenesis of HSP, the SPAST genotype and clinical phenotype of a Chinese Han SPG4 family were analysed in this study. METHODS: The clinical data of the proband and his family members were collected. Whole genomic DNA was extracted from peripheral blood, and the gene detection and pathogenicity analysis of mutations were conducted using whole-exome sequencing technology...
July 19, 2023: Neuroscience Letters
https://read.qxmd.com/read/37307763/characteristic-3d-foot-motion-patterns-during-gait-of-patients-with-charcot-marie-tooth-identified-by-cluster-analysis
#7
JOURNAL ARTICLE
Selena Schmidt, Harald Böhm, Chakravarthy U Dussa, Katarzyna Bienias, Albert Fujak
BACKGROUND: CMT is a clinically and genetically heterogenous disease with varying degrees of progression. Different foot deformities, gait and movement patterns are observed. In order to achieve an improved, targeted treatment strategy, the participants are divided into characteristic groups using a mathematical cluster analysis based on the data from the three-dimensional foot kinematics during walking. METHODS: Outpatients from age 5-64 years (N = 33 participants, 62 feet) with a proven CMT type 1 (N = 16, 31 feet) or CMT without any further type assignment (N = 17, 31 feet) were retrospectively analyzed...
June 2, 2023: Gait & Posture
https://read.qxmd.com/read/37306961/egr2-gene-linked-hereditary-neuropathies-present-with-a-bimodal-age-distribution-at-symptoms-onset
#8
Andoni Echaniz-Laguna, Cécile Cauquil, Jean-Baptiste Chanson, Céline Tard, Lucie Guyant-Marechal, Thierry Kuntzer, Ioana Maria Ion, Anne-Sophie Lia, Jérôme Bouligand, Vianney Poinsignon
BACKGROUND: Mutations in the Early-Growth Response 2 (EGR2) gene cause various hereditary neuropathies, including demyelinating Charcot-Marie-Tooth (CMT) disease type 1D (CMT1D), congenital hypomyelinating neuropathy type 1 (CHN1), Déjerine-Sottas syndrome (DSS), and axonal CMT (CMT2). METHODS: In this study, we identified 14 patients with heterozygous EGR2 mutations diagnosed between 2000 and 2022. RESULTS: Mean age was 44 years (15-70), 10 patients were female (71%), and mean disease duration was 28 years (1-56)...
June 12, 2023: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/36833258/novel-variants-in-mpv17-prx-gjb1-and-sacs-cause-charcot-marie-tooth-and-spastic-ataxia-of-charlevoix-saguenay-type-diseases
#9
JOURNAL ARTICLE
Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, Gauhar Rehman, Hamza Khan, Mehwish Rehman, Najumuddin, Ilyas Ahmad, Muhmmad Tariq, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Muhammad Imran Naseer, Muhammad Shah Faisal, Naveed Wasif, Musharraf Jelani
Charcot-Marie-Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia. CMT2EE (OMIM: 618400) is caused by mutations in MPV17 (OMIM: 137960), CMT4F (OMIM: 614895) is caused by PRX (OMIM: 605725), CMTX1 (OMIM: 302800) is caused by mutations in GJB1 (OMIM: 304040), and ARSACS (OMIM: 270550) is caused by mutations in SACS (OMIM: 604490)...
January 27, 2023: Genes
https://read.qxmd.com/read/36788827/the-impact-of-a-late-diagnosis-a-case-of-charcot-marie-tooth-type-1
#10
Fernando Albuquerque, Deolinda Cunha, Ana C Rodrigues, Rita Nunes, Filipe G Fernandes, Teresa Pipa, Ana Marques, Carla Moreira
Charcot-Marie-Tooth (CMT) is a hereditary motor and sensory neuropathy. The disease consists of a spectrum of inherited disorders caused by pathogenic variants in genes, which lead to multiple different clinical phenotypes. It is one of the most common inherited neuromuscular disorders. This disease most commonly presents with symptoms of distal weakness and muscular atrophy, which then lead to foot drop and pés cavus. In this article, we describe the case of a patient who developed muscle atrophy and distal weakness over the course of his 52 years of life, leading to gait impairment and foot deformities...
January 2023: Curēus
https://read.qxmd.com/read/36686343/x-linked-charcot-marie-tooth-disease-after-sars-cov-2-vaccination-mimicked-stroke-like-episodes-a-case-report
#11
Qiang Zhang, Yang Wang, Run-Tao Bai, Bao-Rong Lian, Yu Zhang, Li-Ming Cao
BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccinations have been administered worldwide, with occasional reports of associated neurological complications. Specifically, the impact of vaccinations on individuals with X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is unclear. Patients with CMTX1 can have stroke-like episodes with posterior reversible encephalopathy syndrome on magnetic resonance imaging (MRI), although this is rare. CASE SUMMARY: A 39-year-old man was admitted with episodic aphasia and dysphagia for 2 d...
January 16, 2023: World Journal of Clinical Cases
https://read.qxmd.com/read/36484864/atp1a3-related-phenotypes-in-chinese-children-ahc-capos-and-reca
#12
JOURNAL ARTICLE
Dishu Huang, Xiaojie Song, Jiannan Ma, Xiujuan Li, Yi Guo, Mei Li, Hanyu Luo, Zhixu Fang, Chen Yang, Lingling Xie, Li Jiang
UNLABELLED: The aim of this research is to study the phenotype, genotype, treatment strategies, and short-term prognosis of Chinese children with ATP1A3 (Na+ /K+ -ATPase alpha 3 gene)-related disorders in Southwest China. Patients with pathogenic ATP1A3 variants identified using next-generation sequencing were registered at the Children's Hospital of Chongqing Medical University from December 2015 to May 2019. We followed them as a cohort and analyzed their clinical data. Eleven patients were identified with de novo pathogenic ATP1A3 heterozygous variants...
December 9, 2022: European Journal of Pediatrics
https://read.qxmd.com/read/36192182/the-phenotypic-continuum-of-atp1a3-related-disorders
#13
REVIEW
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A Brownstein, Muriel Holder-Espinasse, Andrew E Fry, Andrea H Németh, George K Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R Mordekar, Miranda Splitt, Peter D Turnpenny, Demetria Demetriou, Tamara T Koopmann, Claudia A L Ruivenkamp, Pankaj B Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M Sisodiya, Manju A Kurian, J Helen Cross, Meena Balasubramanian
BACKGROUND AND OBJECTIVES: ATP1A3 is associated with a broad spectrum of predominantly neurologic disorders, which continues to expand beyond the initially defined phenotypes of alternating hemiplegia of childhood, rapid-onset dystonia parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome. This phenotypic variability makes it challenging to assess the pathogenicity of an ATP1A3 variant found in an undiagnosed patient. We describe the phenotypic features of individuals carrying a pathogenic/likely pathogenic ATP1A3 variant and perform a literature review of all ATP1A3 variants published thus far in association with human neurologic disease...
October 4, 2022: Neurology
https://read.qxmd.com/read/36114075/atp1a3-related-early-childhood-onset-developmental-and-epileptic-encephalopathy-responding-to-corpus-callosotomy-a-case-report
#14
Kengo Moriyama, Tomoko Mizuno, Tomonori Suzuki, Motoki Inaji, Taketoshi Maehara, Atsushi Fujita, Mitsuhiro Kato, Naomichi Matsumoto
BACKGROUND: VariousATP1A3variant-related diseases have been reported, including alternating hemiplegia of childhood; rapid-onset dystonia-parkinsonism; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. Moreover, a few cases of developmental and epileptic encephalopathy (DEE) with none of these symptoms have been reported. Here, we present a case of DEE with early childhood onset caused by anATP1A3variant that was effectively treated using corpus callosotomy (CC)...
September 13, 2022: Brain & Development
https://read.qxmd.com/read/35851257/the-phenotypic-continuum-of-atpla3-related-disorders
#15
JOURNAL ARTICLE
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A Brownstein, Muriel Holder-Espinasse, Andrew E Fry, Andrea Hilary Nemeth, George K Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R Mordekar, Miranda Splitt, Peter D Turnpenny, Demetria Demetriou, Tamara T Koopmann, Claudia A L Ruivenkamp, Pankaj B Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M Sisodiya, Manju A Kurian, J Helen Cross, Meena Balasubramanian
BACKGROUND AND OBJECTIVES: ATP1A3 is associated with a broad spectrum of predominantly neurological disorders, that continues to expand beyond the initially defined phenotypes of Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus , Optic atrophy, Sensorineural hearing loss syndrome (CAPOS). This phenotypic variability makes it challenging to assess pathogenicity of an ATP1A3 variant found in an undiagnosed patient...
July 18, 2022: Neurology
https://read.qxmd.com/read/35723632/clinicopathological-features-in-two-families-with-mars-related-charcot-marie-tooth-disease
#16
JOURNAL ARTICLE
Zhixing Ma, He Lv, Hongwei Zhang, Hui Wang, Jingcheng Li, Meng Yu, Ying Zhu, Diandian Huang, Lingchao Meng, Yun Yuan
Mutations in MARS gene cause dominant Charcot-Marie-Tooth disease (CMT) 2U. The aim of this study is to investigate phenotypic heterogeneities and peripheral neuropathology of MARS-related CMT patients. We identified a heterozygous p. R199Q mutation and an already reported heterozygous p. P800T mutation of MARS gene in two unrelated families using targeted next-generation sequencing. The first pedigree comprised three patients over three generations and the second pedigree comprised two patients over two generations...
June 20, 2022: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/35656516/mild-late-onset-sensory-neuropathy-associated-with-heterozygous-missense-gdap1-variants
#17
Nivedita U Jerath
This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot-Marie-Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical findings of CMT 2K. The study evaluated these five subjects using clinical, laboratory, electrophysiological, and genetic testing. The findings showed that clinical features demonstrated no pes cavus, no significant weakness in the hands or feet, normal reflexes in four out of the five subjects, and mild to normal electrodiagnostic findings...
2022: Case Reports in Medicine
https://read.qxmd.com/read/34682174/expanding-the-phenotypic-spectrum-of-ecel1-associated-distal-arthrogryposis
#18
Akshata Huddar, Kiran Polavarapu, Veeramani Preethish-Kumar, Mainak Bardhan, Gopikrishnan Unnikrishnan, Saraswati Nashi, Seena Vengalil, Priyanka Priyadarshini, Karthik Kulanthaivelu, Gautham Arunachal, Hanns Lochmüller, Atchayaram Nalini
Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, is caused by mutations in ECEL1. We describe two consanguineous families (three patients) with novel ECEL1 gene mutations detected by next-generation sequencing (NGS). A 12-year-old boy (patient 1) presented with birth asphyxia, motor developmental delay, multiple joint contractures, pes planus, kyphoscoliosis, undescended testis, hypophonic speech with a nasal twang, asymmetric ptosis, facial weakness, absent abductor pollicis brevis, bifacial, and distal lower limb weakness...
October 13, 2021: Children
https://read.qxmd.com/read/34630290/infantile-onset-charcot-marie-tooth-disease-with-pyramidal-features-and-white-matter-abnormalities-due-to-a-de-novo-morc2-gene-variant-a-case-report-and-brief-review-of-the-literature
#19
Ivana Frongia, Susanna Rizzi, Margherita Baga, Laura Maria Ceteroni, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Milja Kaare, Francesco Pisani, Carlo Fusco
Background: Charcot-Marie-Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger 2 ( MORC2 ) gene have been described in several axonal polyneuropathy (CMT2) patients with childhood or adult onset. Occasionally more complex phenotypes with delayed milestones, severe hypotonia, intellectual disability, dystonic postures, pyramidal signs, and neuroimaging abnormalities have been reported...
2021: Frontiers in Neurology
https://read.qxmd.com/read/34613504/charcot-marie-tooth-neuropathy-score-and-ambulation-index-are-both-predictors-of-orthotic-need-for-patients-with-cmt
#20
JOURNAL ARTICLE
Valeria Prada, Riccardo Zuccarino, Cristina Schenone, Giulia Mennella, Marina Grandis, Michael E Shy, Angelo Schenone
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy with an estimated prevalence of 1 person affected on 2500. Frequent symptoms include distal weakness and muscle wasting, sensory loss, reduced deep tendon reflexes, and skeletal deformities, such as hammer toes and pes cavus. CMT is a progressive disease and patients' needs change over their lifetime. In particular, ambulation aids are increasingly needed to maintain ambulation and reduce the risk of falls. We performed a retrospective analysis of medical records from 149 patients with confirmed CMT to evaluate patients ambulation needs related to the severity of their CMT as measured by the CMT Neuropathy Score (CMTNS) and Ambulation Index (AI)...
April 2022: Neurological Sciences
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