The 81st case:a 58 years old male patient presented with later motor milestone, frequent falling for 55 years, weakness of lower limbs for 13 years, upper limbs weakness for 3 years / 中华神经科杂志

A 58-year-old man who presented with progressive proximal weakness and elevated serum creatine kinase levels was found to have typeⅢa glycogen storage disease. Except for a history of later motor milestone in childhood, he was healthy and lived a normal life. There was no hypoglycemia, hepatomegaly or growth retardation. Muscle weakness was not apparent until the fourth decade. Scoliosis and mild hypertrophy of cardiac ventricular septum were detected. Muscle biopsy was performed which revealed amount of glycogen depositing. A novel homogenous splicing mutation was found in AGL gene.

The analysis of the clinical and pathologic features in patients with peripheral neuropathy as main manifestation of microscopic polyangiitis / 中华神经科杂志

Objective To investigate the clinical and pathologic features in patients of microscopic polyangiitis (MPA) with peripheral nerve abnormality.Methods We collected clinical data of 6 patients with MPA that was confirmed by immunological,pathological and clinical findings.Electroneurophysiologic examinations and sural nerve biopsies were performed in these patients.Two normal controls were included in these studies.Results All of 6 patients developed asymmetric polyneuropathies.Electrodiagnostic studies showed reduced amplitudes of the sensory nerve action potential and compound motor action potential with mild impaired conductive velocities.The patients presented vasculitis changes with cell infiltration by monocytes and lymphocytes.Sural nerve biopsies found loss of myelinated fibers in all of the patients indicating axonal degeneration.Some of them associated with regeneration clusters of myelinated fibers.Conclusions Asymmetric neuropathy with sensory nerve injuries is the mainfeature in the MPA associated polyneuropathy.Electrodiagnostic examination indicated axonal lesions in mononeuritis multiplex.Sural nerve biopsies confirmed the active axonal lesions and vasculitis.

A correlation study of adhesion molecule CD146 and the vulnerability of carotid atherosclerotic plaque / 中华内科杂志

Objective To investigate the correlation between the expression of adhesion molecule CD146 and the vulnerability of carotid atherosclerotic plaque.Methods The plaque samples were collected from 40 patients who underwent the carotid endarterectomy and were divided into the stable plaque group and the instable plaque group by ultrasound imaging.Five carotid artery samples were taken from the healthy donors as the control.Immunohistochemistry was applied to test the CD146 expression in all samples.Results Higher expression of CD146 was observed in the atherosclerotic plaques than in the healthy control.Moreover,statistical difference was found in the expression of CD146 in the plaques between the instable plaque group and the stable plaque group (0.31 ± 0.19 vs 0.17 ± 0.07,P ＜ 0.05).The expression of CD146 was positively correlated with the necrotic area (r =0.471 8,P =0.019 9) and the matrix metalloproteinase (MMP)-9 expression in the plaques (r =0.535 6,P =0.000 9).Conclusion The CD146 expression is correlated with the vulnerability of carotid atherosclerotic plaque.

Study on the relationship between nurses' organizational career management and job satisfaction in the third-grade class-A hospital / 中国实用护理杂志

Objective To investigate nurses' organizational career management and job satisfaction in the third-grade class-A hospital,and analyze the relationship between them.Methods A total of 576nurses were recruited by two-stage stratified random sampling method from four third-grade class-A hospitals.They were investigated with Nurses' Organizational Career Management Questionnaire and Job Satisfaction Scale.Results The mean score of nurses' organizational career management and job satisfaction was(2.94±0.52)and(3.32±0.46).There were significant differences on the scores of job satisfaction in nurses with different ages,nursing age,shift,posts,professional tifles,departments,monthly income and type of hospitals.Nurses' organizational career management was positively correlated to job satisfaction.After controlling for the demographic variables,the overall state of organizational career management could explain 34.2 percent for the variances of job satisfaction respectively.Conclusions It is suggested to pay close attention to nurses' organizational career management and take effective career management measures to improve nurses' job satisfaction so as to stabilize the nursing team and retain the excellent nurses.

Common variable immunodeficiency with muscle hypertrophy and myotonia myositis / 中华神经科杂志

Objective To report the clinical and myopathological features in a patient with common variable immunodeficiency (CVID) with myositis.Methods A 33 years old man suffered from recurrent respiratory infection with fever over 10 years.The symptoms improved after anti-infection therapy.At the same time he presented with fatigue.Two years ago he developed general muscle weakness,hypertrophy and myotonia,especially in the hands,neck and thighs.Genetic test for myotonic dystrophy protein kinase (DMPK) and zinc finger protein 9 (ZNF9) was performed.Laboratory tests,electromyography,muscle ultrasound and muscle biopsy were performed.In addition to standard histological and enzyme histochemical stainings,immunohistochemical method was used with primary antibodies of mouse anti human monoclonal antibodies including CD8 for T-lymphocytes,CD20 for B-lymphocytes,CD68 for macrophages and MHC-Ⅰ for muscle membrane.Results Electromyography revealed myogenic changes and abound with myotonic potentials.There was muscle hypertrophy in muscle ultrasound.Lung biopsy showed chronic inflammatory changes.Serum hypoimmunoglobulin and anemia were found.Muscle biopsy showed muscle fiber necrosis and regeneration with lymphocyte and macrophage infiltration.There were no gene mutations in DMPK and ZNF9 gene.Conclusion Muscle hypertrophy and myotonia appeared in CVID with myositis.

Phenotype in 6 patients with mitochondrial DNA G13513A mutation / 中华神经科杂志

Objective To report 6 Chinese patients with mitochondrial encephalomyopathy caused by mitochondrial DNA(mtDNA)G13513A mutation and discuss the mitochondrial phenotype associated with this mutation based on the data of our patient series as well as the reports by others.Methods Direct sequencing of polymerase chain reaction(PCR)products or PCR-RFLP analysis Was performed to screen mtDNA G13513A mutation in 35 cases with mitoehondrial encephalomyopathy.who carried no mtDNA common mutations(1arge 8eale deletion,A3243G,T3271 C,A8344G,or T8993G/C).The clinical features,MRI changes were retrospectively collected and analyzed.Published studies of all patients with mtDNA G13513A mutation were also reviewed.Results Six patients were identified carrying mtDNA G13513A mutation.All patients presented stroke-like episodes with hemianopsia.hemiparesis or hemiparesthesia.Three adult patients presented clinical and radiological features of adult-onset mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes(MELAS),including stroke-like episodes,epilepsy,headache,short stature,sensorineural deafness,multifocal lesions on parietal,occipital and temporal lobes on cranial MRI scans.Three iuvenile.onset patients presented the clinical and brain MRI features of MELAS-Leigh syndrome(LS)overlap syndrome.In addition to the stroke-like episodes,they also showed brain stem lesions with dysarthria,ataxia,and ophthalmopJegia. Brain MRI revealed asymmetrical lesions in the cortex of the oecipital and temporal lobes,as well as symmetrical lesions in the bilateral basal ganglia and brainstem.Muslce biopsy showed ragged redfibem in 5 patients.The infant-onset LS or Leigh-like syndrome with mtDNA G135 13A was described in the English literature.Conclusions mtDNA G13513A mutation is a common pathogenic mutmion for mitochondrial encephalomyopathy,which can result in Leigh syndrome,MELAS-LS overlap syndrome and adult MELAS.The onset of various phenotypes is relatively age-dependent.

Clinical, Electrophysiological and Pathologic Features of Critical Illness Polyneuropathy and Myopathy: 3 Cases Report / 中国康复理论与实践

@#Objective To investigate the clinical, electrophysiological and pathological features of critical illness polyneuropathy and myopathy (CIPNM). Methods The clinical outcomes, electromyogram Results as well as pathological features in nerves and muscles of 3 patients with CIPNM were investigated and analyzed. Results 3 patients were all provided with assisted respiration after tracheal intubation. 7～10 d after intubation, all the patients emerged muscle strength and tendon reflexes of extremities weakening; while 14 days after that, 2 patients appeared amyotrophy of extremities. Electromyogram showed that the conduction of many motor and sensory nerves for extremities decreased, while the amplitude of compound muscle action potential (CMAP) of part of motor nerves decreased. Biopsy for nerves revealed decreased medullated nerve fibers and regeneration phenomenon of auxiliary fibers; while that for muscles showed neuralgic damage and myopathy-like changes. Conclusion CIPNM can complicate after tracheal intubation. The electrophysiological and pathological examinations for nerves and muscles can be helpful for the diagnosis.