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Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness:A case report

World Journal of Clinical Cases 2021年第30期9卷 9302-9309页

作者： Feng-Juan Ding Gui-Zhen Lyu Victor Wei Zhang Hua Jin Prenatal Diagnosis Center Jinan Maternal and Child Health HospitalJinan 250001Shandong ProvinceChina AmCare Genomics lab(Guangzhou) Guangzhou 510300Guangdong ProvinceChina Department of Human and Molecular Genetics Baylor College of MedicineHoustonTX 77001United States

BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20(CMT20),mental retardation 13(MRD13)and spinal muscular atrophy with lower extremity predominant 1(SMA-LED).The incidence of the disease is low,and it is difficult to diagnose,especially in ***,we report a case of DYNC1H1 gene mutation and review the related literature to improve the pediatrician’s understanding of DYNC1H1 gene-related disease to make an early correct diagnosis and provide better services for *** SUMMARY A 4-mo-old Chinese female child with adducted thumbs,high arch feet,and epileptic seizure presented slow response,delayed development,and low limb muscle *** showed abnormal waves,a large number of multifocal sharp waves,sharp slow waves,and multiple spasms with a series of ***-throughput sequencing and Sanger sequencing identified a heterozygous mutation,c.5885 G>A(p.R1962H),in the DYNC1H1 gene(NM 001376)of the proband,which was not identified in her *** with the clinical manifestations and pedigree of this family,this mutation is likely pathogenic based on the American Academy of Medical Genetics and Genomics *** child was followed when she was 1 year and 2 mo *** magnetic resonance imaging result was consistent with the findings of white matter myelinated dysplasia and congenital giant *** extensive neurogenic damage to the extremities was considered,as the results of electromyography showed that the motor conduction velocity and sensory conduction of the nerves of the extremities were not abnormal,and the degree of fit of the children with severe contraction was *** present,the child is 80 cm in length and 9 kg in weight,with slender limbs and

关键词： DYNC1H1 Mental retardation muscle weakness Medical exome sequencing Case report

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Intensive care unit-acquired weakness: Recent insights

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Journal of Intensive Medicine 2024年第1期4卷 73-80页

作者： Juan Chen Man Huang Department of General Intensive Care Unit The Second Affiliated Hospital of Zhejiang University School of MedicineHangzhou 310009ZhejiangChina

Intensive care unit-acquired weakness(ICU-AW)is a common complication in critically ill patients and is associated with a variety of adverse *** include the need for prolonged mechanical ventilation and ICU stay;higher ICU,in-hospital,and 1-year mortality;and increased in-hospital ***-AW is associated with multiple risk factors including age,underlying disease,severity of illness,organ failure,sepsis,immobilization,receipt of mechanical ventilation,and other factors related to critical *** pathological mechanism of ICUAW remains unclear and may be considerably *** review aimed to evaluate recent insights into ICU-AW from several aspects including risk factors,pathophysiology,diagnosis,and treatment strategies;this provides new perspectives for future research.

关键词： Intensive care unit-acquired weakness muscle weakness muscle atrophy Risk factor Mechanism Treatment

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Compound muscle action potential(CMAP)scan examination of paretic and contralateral muscles reveals motor unit alterations after stroke

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Science China(Life Sciences) 2023年第11期66卷 2604-2613页

作者： Maoqi Chen Zhiyuan Lu Xiaoyan Li Ya Zong Qing Xie Sheng Li Ping Zhou School of Rehabilitation Science and Engineering University of Health and Rehabilitation SciencesQingdao 266071China Department of Neurology Medical College of WisconsinMilwaukee WI 53226USA Fischell Department of Bioengineering University of Maryland at College ParkCollege Park MD 20742USA Department of Rehabilitation Medicine Ruijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Department of Physical Medicine and Rehabilitation University of Texas Health Science CenterHouston TX 77030USA TIRR Memorial Hermann Research Center TIRR Memorial Hermann HospitalHouston TX 77030USA

This study presents a novel compound muscle action potential(CMAP)examination of motor unit changes in paretic muscle post *** scan of the first dorsal interosseous(FDI)muscle was performed bilaterally in 16 chronic stroke *** parameters were derived from the CMAP scan to examine paretic muscle changes,including CMAP amplitude,D50,step index(STEPIX)and amplitude index(AMPIX).A significant decrease in CMAP amplitude and STEPIX was observed in paretic muscles compared with contralateral muscles(CMAP amplitude:paretic(9.0±0.5)mV,contralateral(11.3±0.9)mV,P=0.024;STEPIX:paretic 101.2±7.6,contralateral 121.9±6.5,P=0.020).No significant difference in D50 and AMPIX was observed between the paretic and contralateral sides(P>0.05).The findings revealed complex paretic muscle changes including motor unit degeneration,muscle fiber denervation,reinnervation and atrophy,providing useful insights to help understand neuromuscular mechanisms associated with weakness and other functional deterioration post *** CMAP scan experimental protocols and the applied processing methods are noninvasive,convenient,and automated,offering practical benefits for clinical application.

关键词： compound muscle action potential(CMAP)scan stroke motor unit muscle weakness step index(STEPIX) first dorsal interosseous(FDI)

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Neuromuscular Electrical Stimulation in Intensive Care Unit Patients:Integrative Review

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Modern Research in Inflammation 2019年第2期8卷 11-27页

作者： Miriam Viviane Baron Marcus Vinicius de Mello Pinto Janine Koepp Cristine Brandenburg Paulo Ricardo Martins Amanda Correa dos Santos Daniela Moraes Carolina Goncalves Pinheiro Nathália Ken Pereira Iketani Bartira Ercilia Pinheiro da Costa Nephrology Laboratory Department of Postgraduate of Medicine and Health SciencesSchool of MedicinePontifical Catholic University of Rio Grande do SulPorto AlegreBrazil Celulare Institute Rio de JaneiroBrazil Nursing Course Department of Nursing and DentistryUniversity of Santa Cruz do SulSanta Cruz do SulBrazil Postgraduate Program in Brazilian Education Department of Fundamentals of EducationFederal University of CearáFortalezaBrazil School of Medicine Pontifical Catholic University of Rio Grande do SulPorto AlegreBrazil Physiotherapy Course Department of PhysiotherapyVale do Salgado FacultyIcóBrazil Department of Physiotherapy Dom Luiz I Hospital-Portuguese Beneficent of BelemParaBrazil

Intensive care units’ acquired muscle weakness is present in approximately 50% of the patients. Although active muscle training can attenuate weakness, a large proportion of critical patients cannot participate in any active mobilization. Neuromuscular electrical stimulation may be an alternative strategy to reverse muscle weakness. The objective of the study was to review the scientific publications on the use of neuromuscular electrical stimulation and its parameters and the main results in patients hospitalized in intensive care units. This is an integrative review surveying studies in online databases. The studies were selected from the following descriptors: neuromuscular electrical stimulation AND parameters AND intensive care units AND muscle weakness. The inclusion criteria included articles that addressed the topic of neuromuscular electrical stimulation and the parameters used in patients admitted to intensive care units, aged 18 years or older. Exclusion criteria were studies involving animals, case reports, letters to the editor and book chapters. The search comprised articles in the Portuguese, English and Spanish languages from January 2013 to March 2019. Of the 185 articles identified, nine met the eligibility criteria. The studies were evaluated assessing the level of evidence, and the relevant information was presented in the table and discussed. The parameters of the neuromuscular electrical stimulation employed in the studies showed positive results for the maintenance of strength and muscle mass. There was evidence of benefits in the local and systemic microcirculation, potentially mobilizing endothelial stem cells, to prevent atrophy, to reduce mechanical ventilation time and stay in intensive care unit;and when incorporated into the usual physiotherapy care, proved to be more effective than usual care. Its use is safe and viable in critically ill patients.

关键词： muscle weakness Critical Illness Polyneuropathy Sepsis Electric Stimulation Therapy Physical Therapy Modalities

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Post-polio syndrome: a literature review

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Journal of Translational Neuroscience 2020年第1期5卷 1-7页

作者： Qiaoyan Liu Yuming Wang Aimin Zhang Research Institute of Rehabilitation Information China Rehabilitation Science InstituteBeijing 100068China Research Institute of Rehabilitation Information China Rehabilitation Research CenterBeijing 100068China Beijing Bo’ai Hospital China Rehabilitation Research CenterBeijing 100068China

Post-polio syndrome(PPS)is a neurologic disorder characterized by an accumulation of symptoms,most often muscle weakness,fatigue,and pain,decades after the initial *** of PPS is based on the presence of a lower motor neuron disorder which is supported by neuro-physiological findings,as well as exclusion of other disorders as causes of new *** pathogenesis of PPS is still *** for patients with PPS should take a comprehensive *** of the need for orthoses is often required.

关键词： post-polio syndrome(PPS) pathogenesis prevalence diagnosis criteria muscle weakness fatigue pain deformity dysfunction treatment

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Prevalence and Characterization of the Cerebral Palsy in Maceio,a Northeast City of Brazil

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World Journal of Neuroscience 2018年第3期8卷 333-341页

作者： Marcia Andreya Zanon Amanda Kelly Martin Araujo Edson V.C.Neto Larissa C.Mendes David Balbino Pascoal Euclides Mauricio Trindade Filho Reidson Beiriz Vercosa Lysien Ivania Zambrano Janise Dal Pai Jose Claudio da Silva Faculdade Estacio de Sa de Alagoas MaceioBrasil Universidade Estadual de Ciencias da Saude de Alagoas-UNCISAL MaceioBrasil Centro Universitario CESMAC MaceioBrasil Centro Universitario UNIT MaceioBrasil Facultad de Ciencias Medicas Universidad Nacional Autonoma de HondurasTegucigalpaHonduras Universidade Federal de Sao Paulo-UNIFESP Sao PauloBrasil Faculdade UNIRB de Arapiraca ArapiracaBrasil

Background: Cerebral palsy is a group of disorders arising from a static damage or brain development defects occurring during fetal life and in the first months of life. Methods: The sample consisted of 800 individuals living in 50 districts of the city of Maceio. A standardized questionnaire was applied. Results: The prevalence of cerebral palsy in the sample was 5/1000. All were born at term, 75% were male, 50% had severe cerebral palsy and 50% was moderate. 75% had quadriplegia and 25% had diplegia. Fifty percent of the cerebral palsy was caused by meningitis and 50% for prolonged labor. Conclusions: The prevalence of cerebral palsy in Maceió is 140.38% higher than the highest prevalence found in developed countries, predominantly in low-income and related to postnatal infection in families.

关键词： Cerebral Palsy Epidemiology Motor Disorders muscle weakness muscle Tonus

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Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome

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World Journal of Medical Genetics 2016年第2期6卷 17-21页

作者： Carolyn S Kaufman Merlin G Butler Department of Psychiatry Behavioral Sciences and PediatricsUniversity of Kansas Medical CenterKansas CityKS 66160United States

We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud’s phenomenon, and hypermobility. She was found to have a 6074A 〉 T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classifed as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient’s symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome （EDS）. At the time of writing, a few mutations in the TNXB gene have been recognized as pathogenic causing EDS due to tenascin-X defciency, but the variant identifed in our patient has not been recognized as pathogenic in online genetic databases. Our case study in combination with peer-reviewed literature suggests that the 6074A 〉 T nucleotide transition in the TNXB gene may be classifed as disease-causing for EDS due to tenascin-X defciency.

关键词： Ehlers-Danlos syndrome Genetic variants Mutations Hypermobility Joint pain muscle weakness Raynaud’s phenomenon Tenascin-X TNXB Ehlers-Danlos syndrome due to tenascin-X defciency

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