Objective To analyze the clinical and pathological features of limb-girdle muscular dystrophy2B(LGMD2B).Methods The clinical and pathological features of 7 patients with LGMD2B were analyzed retrospectively.Results Seven patients had a slow onset,and progressive proximal muscle weakness,muscle atrophy,progressive,and incresed serum creatine phosphokinase; muscle biopsy showed different degree of muscle fiber degeneration,necrosis; stromal and inflammatory cell infiltration in muscle fiber; monoclonal antibody immunohistoehemical staining:showed expression of Dysferlin protein was not found in muscle cell membrane,Dystrophin,Sarcoglycans protein expression was normal.Monoclonal antibody immunohistochemical staining the proteins were expressed in normal cell membrane.Conclusions LGMD2B is a slow onset,progressive proximal muscle weakness,muscle atrophy.Histochemical staining on the basis of further immunohistochemical staining,to detect the membrane protein and Dysferlin protein expression,that is a necessary means to diagnose LGMD2B and inflammatory myopathies.

Objective:To analyze the expression of glial fibrillary acidic protein (GFAP) and neuronal nuclei (NeuN) antigen in hippocampus based on the depression model of juvenile rats caused by chronic unpredictable stress (CUS), and to explore the effect of electroacupuncture vagus nerve on CUS depression model.Methods:Six juvenile SD rats were selected as the control group (without any stimulation), and the rest were divided into CUS group, pseudo stimulation group, fluoxetine group and electroacupuncture group by random number method after CUS modeling, with 6 rats in each group. Fluoxetine group was given 10 mg/kg fluoxetine intervention; control group and CUS group were given the same amount of normal saline intervention; In the electroacupuncture group, the distal vagus nerve was stimulated after ligation, while in the pseudo stimulation group, only vagus nerve was isolated without electrical stimulation. After 28 d of intervention, the five groups were subjected to Open-field Test and Sucrose Preference Test. Hippocampal neurons were detected by hematoxylin and eosin (HE) staining, and the expressions of GFAP and NeuN in hippocampal were detected by immunohistochemistry.Results:After CUS modeling and before intervention, the number of vertical and horizontal movements, sucrose consumption and sucrose preference in CUS group, pseudo stimulation group, fluoxetine group and electroacupuncture group were significantly lower than those in the control group (all P<0.01); After the intervention, the above indexes in CUS group and pseudo stimulation group were still lower than those in the control group (all P<0.01), but the above indexes in fluoxetine group and electroacupuncture group were significantly higher than those in CUS group and pseudo stimulation group (all P<0.01). HE staining showed that the arrangement of hippocampal neurons in CUS group and pseudo stimulation group were loose, and there were cell swelling and pyknosis, which was significantly improved in fluoxetine group and electroacupuncture group. Immunohistochemical results showed that compared with the control group, the expression of GFAP increased and NeuN decreased in the hippocampus of CUS group and pseudo stimulation group (all P<0.01); Compared with CUS group and pseudo stimulation group, the expression of GFAP decreased and NeuN increased in fluoxetine group and electroacupuncture group (all P<0.01). Conclusions:Electroacupuncture of vagus nerve can obviously improve the depression symptoms of juvenile rats, which is similar to fluoxetine, and may be related to regulating the expression of GFAP and Neun in hippocampus.

Purpose: Neoadjuvant therapy modality can increase the operability rate and mitigate pathological risks in locally advanced cervical cancer, but treatment response varies widely. It remains unclear whether genetic alterations correlate with the response to neoadjuvant therapy and disease-free survival (DFS) in locally advanced cervical cancer. Materials and Methods: A total of 62 locally advanced cervical cancer (stage IB-IIA) patients who received neoadjuvant chemoradiation plus radical hysterectomy were retrospectively analyzed. Patients’ tumor biopsy samples were comprehensively profiled using targeted next generation sequencing. Pathologic response to neoadjuvant treatment and DFS were evaluated against the association with genomic traits. Results: Genetic alterations of PIK3CA were most frequent (37%), comparable to that of Caucasian populations from The Cancer Genome Atlas. The mutation frequency of genes including TERT, POLD1, NOS2, and FGFR3 was significantly higher in Chinese patients whereas RPTOR, EGFR, and TP53 were underrepresented in comparison to Caucasians. Germline mutations were identified in 21% (13/62) of the cohort and more than half (57%) had mutations in DNA damage repair genes, including BRCA1/2, TP53 and PALB2. Importantly, high tumor mutation burden, TP53 polymorphism (rs1042522), and KEAP1 mutations were found to be associated with poor pathologic response to neoadjuvant chemoradiation treatment. KEAP1 mutations, PIK3CA-SOX2 co-amplification, TERC copy number gain, and TYMS polymorphism correlated with an increased risk of disease relapse. Conclusion We report the genomic profile of locally advanced cervical cancer patients and the distinction between Asian and Caucasian cohorts. Our findings highlight genomic traits associated with unfavorable neoadjuvant chemoradiation response and a higher risk of early disease recurrence.