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Nutritional and lipid profile status of children with spinal muscular atrophy in China:A retrospective case-control study

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Chinese Medical Journal 2024年第10期137卷 1243-1245页

作者： Yijie Feng Jia Wei Mei Yao Jianing Jin Yiqin Cui Qi Long Fei Chen Yi Hong Dongming Zhou Jingjing Hu Xiao Chen Feng Gao Changzheng Yuan Shanshan Mao Department of Neurology Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China Department of Infection Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China Department of Nutrition Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China Children’s Hospital Zhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China School of Public Health Zhejiang University School of MedicineHangzhouZhejiang 310012China Children’s Hospital School of Public HealthZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China

To the Editor:5q spinal muscular atrophy(5qSMA)is an autosomal recessive neuromuscular disorder caused by the lack of the survival motor neuron(SMN)protein encoded by the SMN1 gene,located at 5q11.2-q13.3.[1]The incidence is 1/10,000-1/6000 live births,and the mutation carrier rate in China is 1/42.[1]Spinal muscular atrophy(SMA)is mainly divided into four subtypes:SMA type I,II,III,and IV,based on the motor milestones ever *** I-III occur in children,[1]which often result in progressive muscular atrophy and weakness as well as multi-system dysfunction,including nutritional and metabolic issues.[2]Children with SMA may have hidden nutritional and lipid imbalances,despite normal body appearance and anthropometric measurements,making it difcult to detect early and intervene.

关键词： atrophy muscular children

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Mitochondria replacement from transplanted amniotic fluid stem cells:a promising therapy for non-neuronal defects in spinal muscular atrophy

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Neural Regeneration Research 2024年第5期19卷 971-972页

作者： Michela Pozzobon Camilla Bean Women’s and Children’s Health Department University of Padova Foundation Institute of Pediatric Research Cittàdella Speranza PadovaItaly Department of Medicine University of UdineUdineItaly

Spinal muscular atrophy(SMA)is a genetic disorder that primarily affects infants and leads to muscle weakness,atrophy,and *** main cause is the homozygous mutation or deletion of the SMN1 gene,resulting in inadequate levels of the survival motor neuron(SMN)*** treatments focus on restoring SMN levels through various approaches,but there is a need for“SMN-independent”therapies that target other pathological *** muscle is closely involved in SMA pathology,with impaired muscle function observed before motor neuron *** have revealed that SMN loss leads to skeletal muscle mitochondrial structural abnormalities,impaired respiration,and accumulation of reactive oxygen species.

关键词： impaired atrophy muscular

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Prenatal Diagnosis of Fukuyama Congenital muscular Dystrophy by Optical Genomic Mapping in a Chinese Family

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Maternal-Fetal Medicine 2024年第3期6卷 131-133页

作者： Jia Zhou Hui Xiong Jingmin Yang Xiaona Fu Luming Sun Department of FetalMedicine Shanghai FirstMaternity and Infant HospitalTongji UniversityShanghai201204China Department of Neurology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China Key Laboratory of Birth Defects and Reproductive Health of National Health and Family Planning Commission(Chongqing Key Laboratory of Birth Defects and Reproductive Health Chongqing Population and Family PlanningScience and Technology Research Institute)Chongqing 400020China State Key Laboratory of Genetic Engineering and MOE Engineering Research Center of Gene Technology School of Life SciencesFudan University200433ShanghaiChina Shanghai WeHealth Biomedical Technology Co. LtdShanghai 201318China

Fukuyama congenital muscular dystrophy(FCMD)is an autosomal recessive disorder first described by Fukuyama in 1960.1 It typically manifests with generalized muscle weakness and hypotonia from infancy,often requiring assistive devices for *** frequently exhibit cognitive deficits,varying degrees of seizures,and specific neuroimaging,such as micropolygyria,hydrocephalus,and cerebellar malformations.

关键词： Mapping muscular dystrophy

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Germline BRCA2 mutation in a case of aggressive prostate cancer accompanied by spinal bulbar muscular atrophy

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Asian Journal of Andrology 2022年第1期24卷 116-118页

作者： Hiroshi Hongo Takeo Kosaka Hideyuki Hayashi Kohei Nakamura Hiroshi Nishihara Shuji Mikami Himisha Beltran Mototsugu Oya Department of Urology Keio University School of Medicine35 ShinanomachiShinjuku-kuTokyo 160-8582Japan Genomics Unit Keio Cancer CenterKeio University School of Medicine35 ShinanomachiShinjuku-kuTokyo 160-8582Japan Division of Diagnostic Pathology Keio University Hospital35 ShinanomachiShinjuku-kuTokyo 160-8582Japan Department of Medical Oncology Dana-Farber Cancer Institute450 Brookline AvenueBostonMA 02215USA

Dear Editor,Spinal and bulbar muscular atrophy(SBMA)or Kennedy’s disease is a rare X-linked,recessive,lower motor neuron disease caused by a CAG repeat expansion within the first exon of the androgen receptor(AR)*** of the CAG-triplet repeat impacts AR function;therefore,men with SBMA are thought to be at a very low risk of prostate *** previously reported a case of high-risk prostate cancer with SBMA(repeat length 46).

关键词： atrophy muscular cancer

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Base editing: a promising tool to rescue spinal muscular atrophy

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Signal Transduction and Targeted Therapy 2023年第10期8卷 4436-4438页

作者： Priyanka Bhatia Jared Sterneckert Center for Regenerative Therapies TU Dresden(CRTD) Technische Universität(TU)DresdenDresdenGermany Medical Faculty Carl Gustav Carus of TU Dresden DresdenGermany

In a new Science publication,Arbab and colleagues observe a substantial improvement in life span and motor functions of adenosine-base edited spinal muscular atrophy(SMA)mice with restored endogenous survival motor neuron(SMN)protein expression and regulation.1 This study provides proof-of-principle for the use of adenosine base editing(ABE)as a possible one-time,permanent therapy for SMA.

关键词： atrophy muscular endogenous

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muscular involvement of extranodal natural killer/T cell lymphoma misdiagnosed as polymyositis: A case report and review of literature

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World Journal of Clinical Cases 2020年第5期8卷 963-970页

作者： Li-Hui Liu Qing Huang Yun-Hai Liu Jie Yang Han Fu Lin Jin Department of Neurology Xiangya Hospital of Central South UniversityChangsha 410008Hunan ProvinceChina Department of Geriatrics Stroke Center Cerebrovascular disease clinical research center of Hunan provinceChangsha 410008Hunan ProvinceChina Department of Dermatology Xiangya Hospital of Central South UniversityChangsha 410008Hunan ProvinceChina

BACKGROUND Natural killer(NK)/T cell lymphoma is a rare and highly aggressive malignant tumor,and is a special form of non-Hodgkin's *** extranodal involvement is frequently found in tissues such as the skin,testicular and gastrointestinal tract etc,its presence in skeletal muscle has scarcely been reported in the *** SUMMARY We report a case of extranodal NK/T cell lymphoma with muscle swelling as the first clinical manifestation.A 42-year-old man,who initially presented with localized swelling in the double lower extremities,demonstrated gradual facial and eyelid swelling,and his imaging results showed multiple sites of muscle damage throughout the *** final pathological results suggested NK/T cell lymphoma,and immunohistochemistry showed CD20(-),CD3(+),CD30(+),CD56(-),EBER(+),Ki67(60%),TIA-1(+)and CD68(±)*** muscle swelling significantly improved after treatment with chemotherapy *** This disease is difficult to diagnose and highly invasive,and should be included in the differential diagnosis of unexplained muscle swelling.

关键词： Lymphoma Extranodal natural killer/T cell lymphoma muscular Polymyositis Muscle swelling Case report

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Prion-like domain disease-causing mutations and misregulation of alternative splicing relevance in limb-girdle muscular dystrophy (LGMD) 1G

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Neural Regeneration Research 2020年第12期15卷 2239-2240页

作者： Cristina Batlle Salvador Ventura Departament de Bioquímica i Biologia Molecular and Institut de Biotecnologia i Biomedicina Universitat Autònoma de BarcelonaBellaterraSpain

Human prion-like proteins often correspond to nucleic acid binding proteins,displaying both globular domains and long intrinsically disordered regions(IDRs)(Harrison and Shorter,2017).Their IDRs are of low complexity and resemble in amino acid composition to the disordered yeast prion domains,being usually enriched in Gln and Asn residues and depleted in hydrophobic and charged ***,these sequence stretches are named prion-like domains(PrLDs).Prion-like proteins can aggregate into amyloid fibrils,which can accommodate incoming protein monomers,propagating thus the polymeric fold,both processes being。

关键词： dystrophy muscular amyloid

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Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy

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World Journal of Pediatrics 2019年第3期15卷 219-225页

作者： Qing Ke Zheng-Yan Zhao Jerry R.Mendell Mei Baker Veronica Wiley Jennifer M.Kwon Lindsay N.Alfano Anne M.Connolly Catherine Jay Hanna Polari Emma Ciafaloni Ming Qi Robert C.Griggs Michele A.Gatheridge Department of Neurology The First Affiliated Hospital College of MedicineZhejiang UniversityHangzhouZhejiangChina Children’S Hospital Zhejiang University School of Medicine HangzhouChina Department of Pediatrics and Neurology Nationwide Children’S HospitalColumbusOHUSA Department of Pediatrics University of Wisconsin School of Medicine and Public HealthMadisonWIUSA Disciplines of Genetic Medicine and Pediatric and Child Health University of SydneySydneyAustralia Department of Neurology University of Wisconsin School of Medicine and Public HealthMadisonWIUSA Department of Pediatrics Nationwide Children’S HospitalColumbusOHUSA Department of Neurology Washington University School of MedicineSt.LouisMOUSA Department of Neurology University of Rochester School of Medicine and DentistryRochesterNY’USA PerkinElmer Inc TurkuFinland Department of Clinical Laboratory Zhejiang University School of MedicineHangzhouChina Department of Neurology University of Rochester School of Medicine and Dentistry60 1 Elmwood AveBox 673RochesterNY 14642USA

Background Advances in treatment for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) hold promise for children with these *** genetic diagnosis,early in the disease process,will allow these treatments to be most *** screening (NBS) for SMA has been recommended in the United States,and a pilot DMD NBS program is underway in Hangzhou,*** sources A PubMed search,limited to the past 5 years,was conducted to identify:(1) therapeutic advancements for DMD/SMA approved by the United States Food and Drug Administration or the European Medicine Agency and (2) The status of NBS for DMD/*** We review the current state of approved treatments for DMD/*** present recommendations regarding the future of NBS for these diseases,with a focus on the outcomes and challenges of SMA NBS in New York,USA,and the DMD NBS pilot program in Hangzhou,*** Approved treatments for DMD and SMA may change the natural history of these ***-term studies of these treatments are *** avoid the known diagnostic delay associated with these disorders and provide optimal effectiveness of these treatments,early identification of patients through NBS will be *** comprehensive follow-up plans for positively identified patients will need to be in place for NBS programs to be successful.

关键词： Duchene muscular dystrophy Spinal muscular atrophy Newborn screening Neuromuscular disorders Neurology

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Diagnosis of Spinal muscular Atrophy:A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing

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Chinese Medical Journal 2018年第24期131卷 2921-2929页

作者： Yan-Yan Cao Wen-Hui Zhang Yu-Jin Qu Jin-Li Bai Yu-Wei Jin Hong Wang Fang Song Department of Medical Genetics Capital Institute of PediatricsBeijing 100020China

Background: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for SMA. Methods: A total of 1494 children suspected with SMA were enrolled in this study. Traditional strategy, including multiplexed ligation-dependent probe amplification (MLPA) and TA cloning, was used in 1364 suspected SMA children from 2003 to 2014, and the 130 suspected SMA children were tested by a new strategy from 2015 to 2016, who were also verified by MLPA combined with TA cloning. The SMN1 and SMN2 were simultaneously amplified by polymerase chain reaction using the same primers. Mutation Surveyor software was used to detect and quantify the SMN1 variants by calculating allelic proportions in Sanger sequencing. Finally, turnaround time and cost of these two strategies were compared. Results: Among 1364 suspected SMA children, 576 children had SMN1 homozygous deletion and 27 children had SMN1 compound heterozygous mutation. Among the 130 cases, 59 had SMN1 homozygous deletion and 8 had heterozygous deletion: the SMN1-specific peak proportion on exon 7 was 34.6 ± 1.0% and 25.5 ± 0.5%, representing SMN1:SMN2 to be 1:2 and 1:3, respectively. Moreover, five variations, including ***8Lysfs *23 (in two cases), ***228*, ***218Hisfs *26, ***143Phefs*5, and ***276His, were detected in 6/8 cases with heterozygous deletion, the mutant allele proportion was 31.9%, 23.9%, 37.6%, 32.8%, 24.5%, and 23.6%, which was similar to that of the SMN1-specific site on exon 7, suggesting that those subtle mutations were located in SMN1. All these results were consistent with MLPA and TA cloning. The turnaround times of two strategies were 7.5 h and 266.5 h, respectively. Cost of a new strategy was only 28.5% of the traditional strategy. Conclusion: Sanger sequencing combined with Mutation Surveyor analysis has potential applic

关键词： Mutation Surveyor Software Quantitative Analysis Sanger DNA Sequencing Spinal muscular Atrophy

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Abnormal expression of inducible nitric oxide synthase in Duchenne muscular dystrophy muscles

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Chinese Science Bulletin 1998年第10期43卷 860-863页

作者： Minsheng Zhu Yuhua Fan Xiangyu Xu Gang Wang Yue Shen Ying Pan Shubiao Ding Nanjing Mil Inst Med Sci Nanjing 210002 Peoples R China Nanjing Children Hosp Dept Neurol Nanjing 210005 Peoples R China

Duchenne muscular dystrophy (DMD) is a fatal genetic disease for the youth and children. 8 biopsies of DMD patients were determined and demonstrated that the membrane_binding nitric oxide synthase was enriched in normal skeletal muscles and was little in DMD muscles. The results from Western blot and immunohistochemistry showed that inducible nitric oxide synthase (iNOS) was overexpressed in DMD muscle fibers, while a small amount of highly localized iNOS can be found in normal fibers. Based on these findings, it is proposed that the mechanism of progressive injury in DMD muscle might be associated with the abnormal expression of iNOS.

关键词： Duchenne muscular dystrophy inducible nitric oxide synthase human.

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