Objective To investigate the clinical and molecular pathological features of limb-girdle muscular dystrophy 2A (LGMD2A) of Chinese patients. Methods Thirty cases of LGMD with excluding LGMD2B were included in this study. The muscle specimens were performed by a standard series methods of histochemistry, enzymohistochemistry, immunohistochemistry and Western blot. The clinical and molecular pathological features of LGMD2A were retrospective analyzed. Results Five cases with no or only trace expression of calpain-3 protein were diagnosed as calpainopathy (LGMD2A) by Western blot analysis. The age of onset of these 5 patients ranged from 10 to 45 years and the duration of the disease were about 2-10 years. Proximal muscles weakness and atrophy of lower limbs were predominantly involved. In all patients,symptoms progressed slowly. The ambulation could be retained for many years but running and jumping were impaired early. The serum creatine kinase level was elevated moderately to markedly. Electromyography showed myopathic patterns in all cases. Two siblings had similar symptoms indicating autosomai recessive inherited pattern. Pathologically, there was marked variation in fibre size and most small fibres were round. Some necrotic and regenerating fibers were seen. Fibres with centrally placed nuclei can be found frequently. No infiltrations of inflammatory cells were seen. Lobulated fibers were observed in 2 patients by NADH-TR stain. The expression of dystrophin, caveolin-3, α-, β-, γ- and δ-sarcoglycan protein were normally staining of 5 LGMD2A patients' specimens by immunohistochemistry. Two patients had reduced staining of dysferlin by immunohistochemistry study. Conclusions Clinical and pathological characteristics of our 5 LGMD2A patients are consistent with typical muscular dystrophy features reported in other countries. Identification of calpian-3 deletion by Western blot is essential for the diagnosis of calpainopathy.

Objective To investigate the pathological features of blood vessel inflammation in facioscapulohumeral muscular dystrophy ( FSHD ) and the role of vasculitis on the pathogenesis of FSHD. Methods The clinical manifestations and myopathological features of 26 FSHD patients were retrospectively analyzed and summarized. All of the patients were divided into 2 groups; inflammatory infiltration group and non-inflammatory infiltration group. The latter was further divided into 3 subgroups;endomysial inflammation subgroup, perivasculitis subgroup and transmural vasculitis subgroup.Immunohistochemical staining were carried out in inflammatory infiltration group with anti-CD3, anti-CD4,anti-CD8,anti-CD20 and anti-SMA antibody. The control group was composed of 10 dermatomyositis ( DM)cases and 10 polymyositis ( PM) cases. Results The age of onset was (25. 2 ± 12. 6) years old and the average course was (7. 8 ±7. 3) years. The sex ratio of male to female was 1.6: 1. Five of them had family history. The main clinical features were progressive weakness and atrophy of facial, shoulder girdles and proximal upper limbs muscles. The lower distal limbs and (or) lower distal limbs and pelvic girdle muscles were involved in 18 cases. The main pathological features were shown as followed. Seventeen of them had focal inflammatory cell infiltration, including endomysial inflammation (4/17) , perivasculitis (7/17) , and transmural vasculitis (6/17). Immunohistochemical staining confirmed the major types of inflammatory cells were CD4* T lymphocytes and CD20B lymphocytes, which was familiar with DM. While in PM, CD8+ T lymphocytes were dominant The proportionality of residual muscle fibers obviously decreased in inflammatory infiltration group ( 48. 0% ± 23. 6% ) than non-inflammatory infiltration group ( 94. 3% ±3. 1% , T = 198. 000, P = 0. 000). As to CK levels, there were no significant deviation. Conclusions Obvious inflammatory cell infiltration can be seen in FSHD, the locations of inflammatory cells are endomyosium inflammation, perivasculitis and transmural vasculitis. Transmural vasculitis indicates vascular pathological factor may have something to do with pathogenesis of FSHD.

Objective To evaluate the relationships of the serum levels of matrix metalloproteinase-9 (MMP-9), intercellular adhesion molecule-1 (ICAM-1) and adiponectin with the mild cognitive impairment (MCI) in senile metabolic syndrome (MS)patients. Methods The 74 cases with MS and 30 health controls (control group) were enrolled. Mini-mental state examination (MMSE), montreal cognitive assessment (MoCA), digit-symbol test (DST), auditory verbal memory test (AVMT), trail making test(TMT), sunderland clock drawing test (CDT) and verbal fluency test (VFT) were applied to evaluate cognitive function. Based on the cognitive assessment, MS patients were divided into two groups: 39 cases with MCI (MS+MCI group) and 35 cases without cognitive impairment (MS group). The levels of MMP-9, ICAM-1 and adiponectin were measured by ELISA. Biochemical variables were measured by routine methods in all subjects. Results (1)MS+MCI group showed the higher levels of BMI, SBP, FBG and MMP-9 (all P＜0.05) and lower level of adiponectin (P＜0.05) than did the MS group. And MS group had higher levels of MMP-9 and ICAM-1 (P＜0.01) and lower adiponectin level (P＜0.01) than did the control group. (2)Spearman's correlation analysis showed that the serum levels of MMP-9 (r=-0.794, P＜0.001) and ICAM-l (r=-0.501, P＜0.001) were negatively correlated with adiponectin. However, MMP-9 was positively correlated with ICAM-1 (r=0.481, P=0.006). (3)Multiple linear regression analysis indicated that there was linear relationship of MoCA with MMP-9 (β=-3.438, P=0.0019), adiponectin (β=1.337, P=0.006), SBP (β=-0.058, P=0.003) and FBG (β=-0.227, P=0.049). (4)Stepwise logistic analysis showed that both high MMP-9 (OR=1.007) and low adiponectin (OR=0.359) were risk factors for the decline of cognitive function. Conclusions Elderly patients with MS may show deterioration in memory, calculation and visuospatial perception. Elevated inflammatory factors might contribute, in combination with abnormal metabolism, to MCI. MMP-9 might contribute to neuronal degeneration. However, adiponectin could strongly counteract the risk factors for cognitive impairment.

Objective To evaluate the outcomes of the payment reform at public hospitals in Sanming city.Methods Interrupted time series analysis was used to compare changes of the average days of stay,per capita hospitalization expense,outpatient expense per visit,proportion of medical expense and that of drugs during hospitalization at 21 public hospitals at or above county level before and after the DRGs reform.Results Comparisons before and after the reform found the average days of stay at the original momentum,poor control in curbing the proportion of medical expense and that of drugs during hospitalization,adropping followed by rising trend in the outpatient expense per visit,and minimal drop of the abovementioned proportions.Conclusions The rapid growth of outpatient and hospitalization costs at tertiary hospitals may be incurred by unreasonable cost transfer,structural trend of hospitalization expense makeup,and rationality pending scrutiny.

Tripartite-sector reform (a synergistic reform in public health services,medical insurance and medicine production-circulation) in Sanming city was described in the paper which centers on medical insurance.Tapping full potentials of the medical insurance,the city achieved efficient synergy among healthcare,medical insurance and medication systems.This reform has trimmed out inflated drug pricing to some extent for rooms of maneuver of medical service pricing changes,thus curbing excessive growth of medical costs successfully.The authors proposed areas of further improvements including the relationship between achieving such objective as curbing medical expenditure,and advancement of technical/medical service capacity;that between integrative control of medical insurance expenditure and protection of people's health;the equilibrium of interests between medical insurance,healthcare and medication.All these will contribute to the goal of healthy patients flow and a hierarchical medical system.

Objective To study the histological features of plasmacytoid dendritic cells (pDC) in muscle tissue affected by dermatomyositis (DM) and to discuss the pathological significations of pDC.Methods Muscle tissues from 30 cases of DM and 25 cases of polymyositis (PM) were collected.HE stain, immunohistochemistry studies were carried out in all muscle samples.Results Pathological features of DM included: perifascicular atrophy (25/30); punched-out fiber (14/30); perivasculitis (17/30),inflammatory infiltration in the endomysium(6/30).Using immunohistochemistry study, 19 cases from DM were infiltrated by macrophages which are CD68 positive and CD303 negative, 20 cases with DM were infiltrated by pDC which are CD303 positive.The location of pDC were: perivascular of interfascicular septae only (15/20); endomysium only (3/20) and both (2/20).Myopathic damage such as necrotic and regenerating fibers and inflammatory infiltration could be seen in PM.There was few pDC infiltration in PM.Conclusions There is few pDC in muscle tissue affected by PM and many pDC in muscle tissue affected by DM with infiltration mainly in the wide interfascicular septae.pDC may be connected to perifascicular atrophy and play a roll in the pathogenesis of DM.

Objective To investigate the clinical and pathological features of Guillain-Barré syndrome with treatment-related fluctuations ( GBS-TRF ).Methods Clinical data were obtained from medical records of patients with GBS-TRF during the period 1999 to 2014 in our Hospital.Sural nerve specimens were collected and summarized retrospectively ( two cases ).Results Eight of 868 cases with GBS had at least one TRF including three chronic hepatitis B patients.The onset of disease was ranged in age from six to 63 years, averaging 34 years.It is more common in men than in women in a ratio of seven:one.Triggering infections occurred in three patients.The initial symptom included weakness of the lower limbs ( five cases ) and upper extremities ( three cases ).Sensory symptom was presented in six patients.Five patients had associated respiratory paralysis.None of them had cranial nerve palsy or autonomic dysfunction.Five patients had two attacks , one had three attacks and two had six attacks.The interval between attacks ranged between 14 days and 46 days ( mean 23 days ).The striking pathologic finding was the presence of sectional selective nerve fiber degeneration ( SNFD ) with evidence of demyelination.Conclusions Patients with GBS-TRF shows similar onset age , preceding infection , cerebrospinal fluid findings, and electrophysiologic characteristics comparing to patients with GBS ,while there are more male patients than female patients.SNFD found in sural nerve biopsy reveals ischemic neuropathy , which predicts that injury of arterioles might play an important role in the pathogenesis of GBS -TRF.

Objective To investigate the clinical and pathological features of Guillain-Barré syndrome with treatment-related fluctuations (GBS-TRF).Methods Clinical data were obtained from medical records of patients with GBS-TRF during the period 1999 to 2014 in our Hospital.Sural nerve specimens were collected and summarized retrospectively (two cases).Results Eight of 868 cases with GBS had at least one TRF including three chronic hepatitis B patients.The onset of disease was ranged in age from six to 63 years, averaging 34 years.It is more common in men than in women in a ratio of seven to one.Triggering infections occurred in three patients.The initial symptom included weakness of the lower limbs (five cases) and upper extremities (three cases).Sensory symptom was presented in six patients.Five patients had associated respiratory paralysis.None of them had cranial nerve palsy or autonomic dysfunction.The examination of cerebrospinal fluid showed protein and cell separation.Five patients had two attacks, one had three attacks and two had six attacks.The interval between attacks ranged between 14 days and 46 days (mean 23 days).The striking pathologic finding was the presence of sectional selective nerve fiber degeneration (SNFD) with evidence of demyelination.Conclusions Patients with GBS-TRF show similar onset age, preceding infection, cerebrospinal fluid findings, and electrophysiologic characteristics comparing to patients with GBS,while there are more male patients than female patients.SNFD found in sural nerve biopsy reveals ischemic neuropathy, which predicts that injury of arterioles might play an important role in the pathogenesis of GBS-TRF.

The countywide healthcare reform in Anhui province since 2015 was analyzed in the paper.The reform is based on the integration of healthcare management system and health service system of the new rural cooperative medical system (NCMS).The core of reform is regional global per capita budget of NCMS.The reform promotes the county′s healthcare institutions to shift from profit oriented to costs control, improves their quality of care, emphasizes disease prevention and control, and maintains residents health.Next, we should pay attention to the rationality of funds balance and benefits distribution, and the training of county healthcare personnel.

Objective:To investigate the clinical, muscle biopsy and gene mutation characteristics of nemaline myopathy caused by the NEB gene variants.Methods:A retrospective analysis of the clinical manifestations, auxiliary examinations, muscle biopsies and genetic analysis of 3 nemaline myopathy patients carrying NEB gene mutations diagnosed in the Neuromuscular Pathology Laboratory of Qilu Hospital of Shandong University during 2019-2021 was done. And the related literature was reviewed.Results:All of the 3 patients were congenital onset. The onset symptoms of the 3 patients were weakness of bilateral lower limbs. Physical examinations showed high palatine arches and long narrow faces. Electromyography showed myogenic impairment. Muscle biopsies of the 3 patients revealed myodystrophic changes and nemaline bodies. The ATPase staining of patient 1 showed the predominance and grouping of type 1 muscle fibers. Genetic tests revealed patient 1 carried c.21522+3A>G and c.3471dupC (p.N1158Qfs *5) mutations in the NEB gene, patient 2 carried c.21522+3A>G and c.18991_18992delAG (p.Q6332Afs *8) compound heterozygous mutations and patient 3 carried c.21522+3A>G and c.3448A>T (p.K1150 *) compound heterozygous mutations. All the 3 patients carried the c.21522+3A>G mutation in the NEB gene, which had only been reported in Chinese population. The c.3471dupC (p.N1158Qfs *5), c.18991_18992delAG (p.Q6332Afs *8) and c.3448A>T (p.K1150 *) mutations have not been reported yet. According to American College of Medical Genetics and Genomics guideline, c.21522+3A>G, c.3471dupC (p.N1158Qfs *5), c.3448A>T (p.K1150 *) and c.18991_18992delAG (p.Q6332Afs *8) mutations were all rated pathogenic. Conclusions:The onset age and clinical symptoms of nemaline myopathy are heterogeneous. Muscle biopsy and genetic analysis are important for diagnosis of nemaline myopathy. The c.21522+3A>G mutation in the NEB gene may be more common in Chinese population.