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1.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1244-1247, 2020.
Article in Chinese | WPRIM | ID: wpr-864209

ABSTRACT

Objective:To explore the level of fractional exhaled nitric oxide (FeNO) in preschool children in Beijing and analyze the influencing factors.Methods:Preschool students aged 3-5 in Beijing were selected from May to July 2017.Healthy children were screened through questionnaire survey and on-site physical examination, and their FeNO levels were detected.Results:A total of 317 healthy children were enrolled, including 161 males and 156 females.There was no significant difference in FeNO levels between different genders ( P>0.05). The geometric mean value of FeNO was 8.2 ppb in male(95% CI: 7.0-9.3 ppb)and 8.7 ppb in female (95% CI: 7.4-10.1 ppb). There were statistical differences in FeNO levels among the 3 age groups ( F=4.63, P<0.05). The geometric mean value of FeNO was 7.2 ppb in 3-year-old children (95% CI: 5.5-8.9 ppb), 8.8 ppb in 4-year-old children (95% CI: 7.4-10.2 ppb), and 9.2 ppb in 5-year-old children (95% CI: 7.7-10.7 ppb). The geometric mean value of FeNO of healthy preschool children was 8.5 ppb (95% CI: 7.6-9.3 ppb). There was a positive correlation between FeNO and height ( r=0.135, P<0.05), but there was no significant correlation between FeNO and weight. Conclusions:The geometric mean value of FeNO in healthy preschool children in Beijing is 8.5 ppb (95% CI: 7.6-9.3 ppb)and the 95% reference value is 23.5 ppb.The level of FeNO changes slightly with the increase of age, and height also affects the FeNO.It is highly feasible to use on-line tidal breathing method to measure FeNO of preschool children.

2.
International Journal of Laboratory Medicine ; (12): 2852-2853,2856, 2016.
Article in Chinese | WPRIM | ID: wpr-605415

ABSTRACT

Objective To explore the influence of group B Streptococcus screening during pregnancy and the incidence of the ear‐ly‐onset GBS disease for newborns .Methods Totally 47 cases of pregnant women with premature rupture of membranes (PROM ) , which were GBS positive and accepted antibiotic treatment ,who were chosen as the experimental group .While 73 cases of pregnant women with premature rupture of membranes (PROM) ,which were not accept GBS screening and antibiotic treatment ,were chosen as control group .The neonatal clinical manifestations were observed .The swab specimens were collected from throat and detected of GBS by using PCR method .Results The experimental group showed no occurrence of neonatal group B streptococcal infection , dyspnea ,cyanosis and fever .Totally 7 cases of the control group had group B Streptococcus infection .Totally 2 cases had dyspnea and 2 cases had cyanosis .Totally 4 cases had fever .The neonatal research indicators of these two groups were statistically signifi‐cant differences (P<0 .05) .Conclusion The group B Streptococcus screening during pregnancy would effectively reduce the inci‐dence of neonatal infection of group B Streptococcus .

3.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 118-121, 2016.
Article in Chinese | WPRIM | ID: wpr-489435

ABSTRACT

Objective To observe any effect when eye acupuncture is combined with computer-assisted cognition training to ameliorate cognitive dysfunction after stroke.Methods Stroke patients with cognitive impairment were randomly divided into an eye acupuncture group (n=30),a computer group (n=30) and a combination group (n=30).The eye acupuncture group was given eye acupuncture,the computer group was given rehabilitative cognition training with specialized equipment and the combination group was given both eye acupuncture and the computeraided training.The treatment lasted 2 months.The Loewenstein occupational therapy cognitive asessment (LOTCA)and the modified Barthel index were used to evaluate the patients' cognitive function and daily life ability before and after treatment.Results Before training there was no significant difference in average LOTCA and MBI results among the three groups.After 2 months of training,all three groups had significantly higher scores in both evaluations.Moreover,the combination group's average score on organization ability,perceptual ability,thinking operation ability and concentration,and also their average total score and MBI score were significantly better than those of the other two groups.Conclusions Eye acupuncture combines synergistically with cognitive rehabilitation training to ameliorate cognitive dysfunction after stroke.Together they promote cognition,ADL ability and an early return to normal family and social life better than either alone.

4.
Pakistan Journal of Medical Sciences. 2014; 30 (3): 671-673
in English | IMEMR | ID: emr-142432

ABSTRACT

A 40- year-old Male was admitted to the first hospital of Jilin University with the complaint of 4 days of fever and headache and aggravation of weakness in his lower extremities accompanied with dysuria and disturbance of consciousness for one day. He had tachycardia, tachypnea and elevated white blood cell counts. General status of the patient got better day by day, while weakness and pain in his lower extremities had developed and gradually quadriplegia arose. When intensive care unit history, weaning difficulty from mechanical ventilator, clinical manifestations in intensive care unit associated with SIRS, symmetrical paresis pronounced in distal lower extremities, absence of deep tendon reflexes, evidence of distal sensory impairment, presence of electrophysiologic results indicating axonal sensorimotor polyneuropathy and muscle and nerve biopsy results were taken into consideration, he was diagnosed as critical illness polyneuropathy

5.
Chinese Journal of Neurology ; (12): 532-535, 2009.
Article in Chinese | WPRIM | ID: wpr-393072

ABSTRACT

Objectives To complete quantitive analysis of intraepidermal nerve fibers(IENFs) by skin biopsy, evaluate epidermal innervation according to age and anatomical site and establish a reference range for IENFs at the distal leg. Methods Seventy skin biopsy specimens involving 70 patients were analyzed. Specimens were fixed routinely in formalin and thereafter embedded in paraffin. Nerve fibers of 10 μm thick sections were revealed using immunoperoxidase staining with panaxonal antibody PGP9. 5. Examine the morphology of IENFs, determine intrsepidermal nerve fibers density (IENFD) and perform the statistical analysis finally. Results Epidermal innervation of different age groups which came from distal leg and wrist did not chang with age. A trend displaying age-associated decreased epidermal innervation was found, although it was not statistically significant. The number of IENFD (fibers/mm2) in upper arm (91.8±21.1) and subterminal thigh (89. 2±21.4) were significantly higher than their number in wrist (64. 5 ± 22. 5) and distal leg (62. 9 ± 15.3). The reference range for IENFD of distal leg in normal humans is 40. 6 fibers/mm2. Condnsions Morphology of IENFs can be dearly displayed by skin biopsy, and this technology is easy to complete the quantitative study of IENFs. It provides a reliable platform for the diagnose and study of peripheral neuropathy.

6.
Chinese Journal of Tissue Engineering Research ; (53): 578-582, 2008.
Article in Chinese | WPRIM | ID: wpr-407381

ABSTRACT

BACKGROUND: Transplantation of bone marrow mesenchymal stem cells (MSCs) has been used in the field of repair of nerve injury. Brain stereotactic transplantation and transvascular transplantation are two transplantation methods. OBJECTIVE: We infused MSCs into rat peripheral cerebral infarct focus, in order to investigate the improvement of rat neurological dysfunction by forelimb use asymmetry test and postural reflex test.DESIGN: A randomized controlled animal experiment. SETTING: Department of Neurology, First Hospital of Jilin University.MATERIALS: This study was performed at the Key Laboratory of Zoonosis, Ministry of Education, Institute of Zoonosis, Jilin University between October 2006 and April 2007. Healthy male Wistar rats of clean grade, weighing 250-280 g, were provided by the Laboratory Animal Center of Jilin University. The protocol was performed in accordance with ethical guidelines for the use and care of animals.METHODS: MSCs from healthy adult volunteers were in vitro cultured and proliferated by density gradient separation and adherence screening method. Their immunophenotypes were identified by a flow cytometer. The Wistar rats were randomized into 5 groups with 10 rats in each: normal control group, sham-operated group, model group, serum-free DMEM-treated group (DMEM group) and MSCs -treated group (MSCs group). Rat models of cerebral ischemia/reperfusion were developed by occluding rat right middle cerebral artery following suture occlusion method modified by Longa et al. Rats in the normal control group were untouched. In the sham-operated group, operation was not ended till cervical interior and exterior arteries were exposed and sutured, and the other disposals were the same as those in the model group. At ischemia 90 minutes reperfusion 1 hour, a stereotaxic apparatus was used to take rat right peripheral cerebral ischemic region as transplantation site: 3 mm lateral to, 1mm caudal to and 4 mm posterior to Bregma. Rats in the MSCs group were slowly injected 5 μL BrdU-labeled MSCs (4×1011 L-1) serum-free medium. Rats in the DMEM group were injected 5 μL serum-free medium. After perfusion, inserted needle was retained for 5 minutes and then slowly withdrawn in order to avoid the back flow of liquid from needle pole. The survival of MSCs in rats was detected by immunohistochemical technique, and rat behavioral changes of observed on days1, 3, 7 and 28 after transplantation by forelimb use asymmetry test and postural reflex test.MAIN OUTCOME MEASURES: ① The immunophenotype of MSCs were identified by a flow cytometer. ② The survival of transplanted MSCs in the rat brain. ③ Rat behavioral changes. RESULTS: All the 50 rats were included in the final analysis. ① High purity of MSCs were harvested in the experiment. Flow cytometer detection showed that both CD44 and CD29 were positive, while CD34, CD45 and CD31 were negative. ② MSCs transplanted into the brains of rats in the MSCs group gathered in the peripheral cerebral ischemic region and survived. ③ Behavioral scores of rats in the MSCs group were significantly lower than those in the other groups (P < 0.05). They were gradually decreased with time after transplantation, and reached the valley value on day 7 after transplantation (P < 0.01). CONCLUSION: Neurological function of rats recovers in all the groups except normal control group. But the recovery differs in different groups, and neurological function of rats in the MSCs group recovers better than that in other groups.

7.
Journal of Jilin University(Medicine Edition) ; (6)2006.
Article in Chinese | WPRIM | ID: wpr-589155

ABSTRACT

Objective To explore the effect of mesenchymal stem cells(MSCs) on nervous function in rats with focal cerebral ischemia.Methods The MSCs were cultivated,purified,and proliferated in vitro by density gradient and adherence to plastic dishes method.The models of Wistar rats were prepared after middle cerebral artery occlusion(MCAO) of right lasted 90 min and reperfusion 1 h.Wistar rats were randomly divided into normal control group(A,n=10),sham operation group(B,n=10),no-handle group after cerebral ischemia/reperfusion (C,n=10),free-serm DMEM transplantation group after cerebral ischemia/reperfusion(D,n=10),MSCs transplantation group after cerebral ischemia/reperfusion(E,n=10).After identified by flow cytometry,5 ?L 5-bromo-2-deoxyuridine(BrdU) labeled MSCs(4?105? ?L-1) and 5 ?L serum-free DMEM were respectively injected intracerebraly into ischemic boundary zone of right in D and E groups.Immunohistochemical method was used to detect the expression and survival of BrdU-labeled MSCs in vivo.Nervous function behavioral tests were performed on 1st,3th,7th and 28th day after transplantation by forelimb use asymmetry test and postural reflex test.Results MSCs were successfully purified and proliferated in vitro.The MSCs expressed CD29,CD44,but didn't expressed CD34,CD45,CD31 identified by flow cytometry.transplanted MSCs survived and were localized to the ischemic boundary zone.Behavioral tests of every group were improved with time prolonged.However,MSCs transplantation group was significantly better than any other groups(P

8.
Chinese Journal of Practical Internal Medicine ; (12)2006.
Article in Chinese | WPRIM | ID: wpr-560099

ABSTRACT

Objective To investigate the effect of Gekko on experimental autoimmune myositis(EAM)animal model.Methods From Nov.2003 to May.2004,in the first hospital of Ji Lin university,Guinea pigs were immunized with rabbit muscle homogenate in Freund's adjuvant and a generalized myositis fundamentally similar to humanpolymyositis was established.These animals were divided at random into A,B,C,D groups.A group were treated with small dose Gekko [1 250 mg/(kg?d)],B group were treated with large dose Gekko [3 750 mg/(kg?d)],C group were treated with preinisone [3 mg/(kg?d)],D group received no treatment.Sign,serum muscle enzyme,electromyography(EMG)and muscle biopsy changes were compared.Results A,B,C groups became better.D group showed no significant change.Conclusion Gekko is effective in therapy of EAM guinea pigs.The result of this study provides an evidence that Gekko mightbe used for the treatment of PM.

9.
Chinese Journal of Neurology ; (12)2005.
Article in Chinese | WPRIM | ID: wpr-543687

ABSTRACT

Objective To detect point mutations of the PRNP in 10 sporadic Creutzfeldt-Jakob disease (CJD) patients. Methods Priori protein gene open reading frame was amplified by PCR of genomic DNA extracted from peripheral blood leukocytes. Products were sequenced and digested with restriction endonuc lease Nsp I to check the phenotype at codon 129. Results Two CJD patients were confirmed at autopsy. One full sequencing of the PRNP open reading frame revealed normal, but the other revealed a single novel mutation consisting of a cytosine-to-guanine substitution at nucleotide 729, causing asparagine to replace glutamic acid at codon 211. Among 8 probable CJD patients, 2 full sequencing of the PRNP open reading frame revealed anadenine-to-guanine substitution at nucleotide 751, causing lysine to replace glutamic acid at codon 219. The patients were methionine homozygosity at codon 129. Conclusions The E211D mutation was identified in a confirmed CJD patient. The novel point mutation might be associated with familial CJD. However, E219K identified in 2 possible CJD patients was included in polymorphism of the PRNP as well as M129V. Analysis of PRNP plays an important role for diagnose of familial priori disease.

10.
Chinese Journal of Neurology ; (12)2005.
Article in Chinese | WPRIM | ID: wpr-541921

ABSTRACT

Objective To evaluate the teased fibers and the consecutive internodes or segments of the same myeliated nerve fiber. Methods Measurements were performed on 1100 fibers (5522 internodal segment) from 11 control nerves as to detecting the anatomic features and pathologic abnormalities. Results Morphometric study on normal teased fibers revealed three results: (1) There is a certain variation of diameters (Ds) and length (IL) of the internodal segments along a fiber (1.0—2.5 ?m), and as a rule, the longest segment is not the thickest one, and the shortest segment is not the thinnest. Or even, sometimes the thinnest segment is the longest one in all internodal segments. (2) The relationship between IL and Ds is not linear, but shows a parabolic curve; thick segments are relatively shorter than the thinner segment. (3) The IL of segment along 10—20 mm of a fiber may be varied by maximally 50%; on the different IL, there is no casual distribution of internodal segments, but 2—4 (or even 6) segments of about equal length are grouped in a row. Conclusions On the classification of normal teased fibers, myelin of the internode may be ragular, irregular and variable in thickness among internodes.

11.
Chinese Journal of Tissue Engineering Research ; (53): 215-217, 2005.
Article in Chinese | WPRIM | ID: wpr-409483

ABSTRACT

BACKGROUND: Pathological changes of the brain tissue in patients with dementia of frontal type(DFT) are still controversial. This paper brought forward the pathological alterative characteristics of brain tissue in DFT patients through one pathological case study of the brain tissue in one dead dementia patient.OBJECTIVE: To validate one uncommon neurodegenerative disease complicated with dementia, DFT.DESIGN: A case analysis.SETTING: Department of Neurology of the First Hospital of Jilin University METHODS: Brain anatomy, serials of histological staining and immunohistochemical staining for PrP, tau protein, etc. were performed after 3 hours since the death of one patient with progressive dementia.stainingfrontal lobes. EEG displayed a paroxysmal high-amplitude slow wave with and the brain atrophy was limited to frontal lobe and the temporal lobe loss of neurocyte companied with significant gliosis since the second layer; However, the pyramidal cell was relatively healthy. No abnormality was munohistochemical staining had negative reactions.CONCLUSION: This case was typical DFT. This type of dementia should be considered in future analysis of the neurodegenerative disease complicated with dementia.

12.
Chinese Journal of Nervous and Mental Diseases ; (12): 13-15, 2001.
Article in Chinese | WPRIM | ID: wpr-411963

ABSTRACT

Objective  To investigate the neuropathological changes of central nervous system in Guillain-Barré syndrom. Methods Brain, spinal cord and sciatic nerve were obtained from 22 cases of Guillain-Barré syndrome. Eight cases were examined by general autopsy, 14 cases were examined by limited autopsy. HE, KB, Bielschowsky, Weil and Sudan Ⅲ staining were carried out, the sections were observed by light microscopy. Results 1.Cerebral superficial veins congested, widening of the cortical sulci, narrowed gyri and mild cerebellar tonsillar hernia were present. 2. Majority of cerbral neurons presented an ischemic changes. Slightly loss of hippocampal pyramidal neurons were found. There was chromatolysis of motor neurons of brain stem. Lymphocytic infiltration around the small vessels occurred in the pons and medullary oblongata in 8 cases. Focal demyelination was noted in pons and frontal white matter in 2 cases. Loss of Purkinje cells and appearance of glial nodules were observed in molecular layer of cerebellum. 3. Swellin, central chromatolysis and eccentric nuclei of anterior horn cells appeared in 16 cases, which were pronounced in cervical and lumbal segment of spinal cord. Vaculated neuroplasma and lymphacytic infiltrition could be seen. 4. Segmental demyelination and lymphocytic infiltration were the main neuropathological changes observed in 20 cases. There were two other cases in which the axon were severely involved, which showed swelling and breakdown of axons and as well as axonal bulbs. Conclusions 1. Lymphocytic infiltration in brain stem and spinal cord were in continuousness of pathological changes of peripheral nerves. 2. Finding of glial nodules suggested that there was possibility of infection of neurotropic virus. 3. Occurence of focal demyelination in cerebrum and brain stem indicated that Guillain-Barré syndrome may have combined involvement of central and peripheral nervous system.

13.
Journal of Clinical Neurology ; (6)2001.
Article in Chinese | WPRIM | ID: wpr-590157

ABSTRACT

0.05).The symptom of peripheral neuropathy emerged 1 w after poisoning,the numbers of gait abnormal were 3,4 and 4 respectively in groups A,B and C,and there were no significant difference among those groups.It showed that the necrosis of segments of muscle fibers and macrophages infiltration scattering distribution were observated in the necrosis area and muscular interstition.At the end of 3 w,4 w and 8 w,there were significant differences in the area of muscular necrosis between group A and C(P

14.
Chinese Journal of Neurology ; (12)2001.
Article in Chinese | WPRIM | ID: wpr-535749

ABSTRACT

Objectives To investigate the normal value of myelinated fibre (MF) of healthy human sural nerve. Methods By morphometric analysis on biopsy of 41 normal subjects’sural nerve, the density of MF, and the distribution and proportion of short and long diameters of MF were measured. Results The number of MF for each body had arange from 5 057 to 10 104, and the density of MF showed 5 250~11 413 mm 2. The distribution on diameter size of MF was found double peaked.Conclusions Following the age increase, the density of MF in Chinese people is substantially decreased. As compared with the study of some western countries, the results show that the density value of MF in our study is significant higher than those from the western countrics ( P =0 002 4).

15.
Journal of Clinical Neurology ; (6)2001.
Article in Chinese | WPRIM | ID: wpr-596227

ABSTRACT

Objective To investigate the change and its significance of blood level of myocardium zymogram in acute organophosphrus poisoning(AOPP) mice.Methods 152 eight-week-old male mice were divided into 3 groups randomly: normal control group(n=8);normal saline control group(n=10);AOPP group(n=135).The AOPP group mice were assigned by 9 time-points(30 min,2 h,4 h,12 h,1 d,2 d,3 d,4 d and 7 d after poisoning).15 mice were in per cage.The mice in AOPP group were introperitoneal injected Omethoate(50 mg/kg) and Atropine(10 mg/kg).Centhifugalizing the blood and the serum were taken,examined cholineesterase(CHE),creatine kinase(CK),aspartate aminotransferase(AST) and lactate dehydrogenase(LDH).The level of myocardium zymogram of myasthenia mice was compared with normal muscle mice in the AOPP group.Results Compared with normal control group and normal saline normal saline control group,CHE activity was persistent inhibition in the AOPP 30 min ~3 d subgroups(allP

16.
Chinese Journal of Neurology ; (12)2001.
Article in Chinese | WPRIM | ID: wpr-539214

ABSTRACT

Objective To study the MRI findings of sporadic Creutzfeldt-Jakob disease and its clinical relations. Methods MRI of 10 cases CJD patients were examined 2-12 months after the onset. 6 cases were diagnosed using cerebral biopsy, 8 cases received CSF analysis for 14-3-3 protein, 8 cases showed special changes of electroencephalogram, PrP gene of 9 cases were analyzed. Results Symmetric bilateral high signals were observed in caudate nucleus and Putamen in T 2-weighted imaging and Flair imaging in 5 cases, but the pallidum and thalamus were normal. No changes were found in T1-weighted imaging. 2 cases showed brain atrophy, 1 case showed mild lacunar infarction,and the other 2 were normal. Conclusions Abnormal signals in basal ganglia of 4 patients of 129Met/Met homozygote occurred after 2.5 months averagely, they survived for 10.5 months at average. 1 patient of 129 Met/Val heterozygote showed abnormal signals in basal ganglia after 12 months, and survived for 16 months. The mean duration of patient with abnormal signals in basal ganglia (12.2 months) is longer than those without changes in basal ganglia (5.5 months). Symmetric high signal in bilateral caudate nucleus and Putamen is an important imaging feature of sCJD. It might be served as a diagnostic index in some circumstances.

17.
Chinese Journal of Practical Internal Medicine ; (12)2000.
Article in Chinese | WPRIM | ID: wpr-566679

ABSTRACT

Myasthenia gravis(MG)is an acquired autoimmune disease,which is mediated by nicotinic acetylcholine receptor(AChR)antibody,depends on cellular immunity and involves some complements.It mainly affects AChR on the postsynaptic membrane at the neuromuscular junction(NMJ).Various therapeutic methods have been used in the treatment of MG,but current therapeutic methods can not do well when used alone,and most current drugs have major side effects due to immunosuppression,We expect that novel therapies be discovered.

18.
Chinese Journal of Neurology ; (12)2000.
Article in Chinese | WPRIM | ID: wpr-537168

ABSTRACT

Objective To verify a uncommon neurodegenerative disease accompanying with dementia--frontal lobe dementia, or dementia of frontal lobe type (DFT). Methods A brain sample was obtained from a patient of 46-year-old male with progressive dementia. Conventional neurohistopathological examination and immunostaining for prion protein (PrP) and tau protein were performed, and clinical data were analysed. Results (1) It was shown having progressive neurological and psychical symptoms and a three month illness duration. (2) Atrophy was found in bilateral frontal gray matter in CT scan. Slow waves of high amplitude with long intermission of two second in whole course of electroencephalography examination were seen. (3) Brain weight was 1 050 g. The cerebral cortex was atrophied and restricted to frontal lobes. The temporal lobes were unaffected. (4) A severe loss of nerve cells from second frontal cortical layer with glioses was revealed, but pyramidal cells in this region remained intact. There were no positive findings on staining of Beilschowky and Gallyas methods. (5) No inclusions were seen in remaining nerve cells and gliocyte. (6) Immunohistochemistry revealed no significant changes on PrP and tau protein.Conclusion This is more typical a case of DFT , and now increasingly recognized. It suggests that a dementia of frontal lobe type should be considered when differential diagnosis of neurodegenerative disease with dementia have been made.

19.
Journal of Clinical Neurology ; (6)1992.
Article in Chinese | WPRIM | ID: wpr-591000

ABSTRACT

Objective To investigate the expression and significance of Ezrin in skeletal muscle of myopathy patients. Methods The skeletal muscle specimens with obviously regenerating muscle fibers were obtained from 9 patients with pseudohypertrophic muscular dystrophy (DMD) and 5 patients with polymyositis (PM). Then frozen serial sections were made and the sections were treated with HE stain, immunohistochemistry stains including anti-Ezrin and anti-Neural cell adhesion molecule (NCAM) monoclonal antibodies. The pathological changes and the expression of Ezrin were observed. Results The small regenerating fibers, central location of nucelus and basophilia endochylema were observed under HE stain both in the patients with DMD and PM. Anachromasis of anti-NCAM monoclonal immunohistochemistry stain was found in the regenerating muscle fibers. Positive Ezrin expression was also detected in the regenerating fibers. However, this expression tapered gradually as the mature process of skeletal muscle. The expression of Ezrin was negative in the mature fibers. Ezrin expressed in the myoblasts. Conclusions Ezrin may be closely related to the regenerating skeletal muscle fibers of DMD and PM patients.

20.
Journal of Clinical Neurology ; (6)1988.
Article in Chinese | WPRIM | ID: wpr-588911

ABSTRACT

Objective To investigate clinical manifestation and pathological changes and the expressions of Emerin protein and STA gene of Emery-Dreifuss muscular dystrophy (EDMD).Methods The clinical features and STA gene detection from one patient with EDMD were analyzed retrospectively. Results The onset age of this patient was in early childhood. The four limbs were progressive muscle weakness and muscular atrophy. There were joint contractures and cardiac involvement in the early stage. The serum muscle enzymes increased slightly. The pathological changes in muscles showed that the sizes of muscle fibers were different, the fibers became spherical and some fibers were replaced by fat. Because of normal spinal anterior horn cells and sural nerves, neurogenic muscular atrophy might be ruled out. Emerin protein could not be tested in striated muscle and cardiac muscle. No mutation of STA gene was found in this case. Conclusions Emery-Dreifuss muscular dystrophy is one particular type of muscular dystrophy. It is characterized with joint contractures and cardiac involvement in the early stage. Emerin protein is deficient in EDMD. There is no mutation of STA gene in sporadic EDMD.

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