Objective To analyze the clinical and pathological features of lipid storage myopathy (LSM) caused by primary carnitine deficiency (CD).Methods The clinical data of 4 cases of possible LSM caused by primary CD were analyzed retorspectively.Results The clinical features of the 4 patients were subacute or chronic onset, proximal muscle weakness and exercise intolerance. Elevated levels of creatases were measured in serum and myogenic damage was found by EMG examination. Frozen sections of muscle biopsy samples showed many fibers contained numerous vacuoles which was stained by oil red O. No ragged red fiber (RRF) was seen in MGT stain. Type I fibers were more severely affected. In electron microscopy, the prominent abnormality was the presence of excessive amounts of fatty droplets in muscle fibers and subsarcolemmal regions with mild increased mitochondria.Treatment with glucocorticoid and energy supplement had been clinically beneficial. Conclusions Fatigue and muscle weakness are prominent manifestations in LSM caused by primary CD. The main changes are accumulation of lipid droplets in muscle specimen without prominent abnormality in structure in mitochondria. Good clinic effect may be caused by therapy with glucocorticoid.

Objective To study the expression of intercellular adhesion molecule-1 (ICAM-1), interleukin-1? (IL-1?) and ultrastructure changes in capillaries and to explore whether capillaries may play a role in the pathogenesis of polymyositis (PM). Methods Ten cases of patients with PM were collected. Control group 1 consists of 6 patients with other myopathies,Control group 2 consists of 2 muscle specimens without clinical and histological evidence of a neuromuscular disorder. An immunohistochemical technique was applied to indentify the expression of ICAM-1 and IL-1? in capillaries in the PM group, Control group 1 and Control group 2. The first analysis was a qualitative assessment. For the second analysis, the number of positive mononuclear cells and capillaries of the whole tissue section from each patient and control was estimated for all the immunologic markers investigated. 10 PM patients were also examined by electron microscopy in order to observe capillary changes in muscles. Results We found that the capillaries in tissues from PM (median (64?20)/mm~2 of tissue, ranging 44—106/mm~2) were significantly less than those from controls (median (157?46)/mm~2 of tissue, ranging 93—213/mm~2) (t=-4.523, P=0.003). A significantly higher number of capillaries expressed IL-1? in the PM group than in the Control group 1(median 15/mm~2 of tissue (ranging 6—46/mm~2) vs 3/mm~2 of tissue (ranging 0—16/mm~2)) (t=3.721, P=0.003). There was no significant difference between PM group and Control group 1 in the number of capillaries expressing ICAM-1 (t=0.529,P=0.617). However, ICAM-1 expressions in endothelial cells of capillaries were stronger in PM patients as IL-1?. Electronic microscopy found capillary changes in 6 PM patients, showing as thickening and duplication of basement membrane, swelling of endothelial cells, stenosis or occlusion of vessels.Conclusion Our findings indicate that capillary changes might take a role in the pathogenesis of PM.

ObjectiveTo explore the hemodynamic characteristics of parotid glands before and after acid stimulation test in patients with Sjogren syndrome.MethodsTwenty female patients with Sjogren syndrome were enrolled as case group,and 20 healthy women were selected in the same period as control group.The blood flow spectrums of bilateral superficial temporal artery and intra-parotid small artery before and after acid stimulation were detected by color Doppler ultrasonography.Peak systolic velocity (PSV),end-diastolic minimum velocity(EDV) and resistance index( RI ) were obtained and analyzed.ResultsPSV and EDV of intra-parotid small artery in case group were significantly higher than those in control group before acid stimulation test,and RI was obviously lower than that in control group [ ( 16.01 ± 6.18 ) cm/s vs.( 14.00 ± 5.23 ) cm/s,( 5.96 ± 3.00 ) cm/s vs.( 3.54 ± 2.03 ) cm/s,0.64 ± 0.07 vs.0.76 ± 0.06 ] ( P ＜ 0.05 ).In control group,PSV and EDV of superficial temporal artery and intra-parotid small artery increased and RI reduced after acid stimulation test,which had significant differences before and after acid stimulation test (P ＜ 0.05).There was no statistical significance in the hemodynamic indexes of case group before and after acid stimulation test(P＞ 0.05 ).Conclusions The reactivity of parotid artery to acid stimulation test in patients with Sjogren syndrome reduce,especially the intra-parotid small artery.Color Doppler ultrasonography can contribute to show the hemodynamic changes of the parotid lesions efficiently.

Objective:To investigate the differences in efficacy, survival outcomes, and acute and late toxicities for patients with local/regional advanced nasopharyngeal carcinoma (NPC) treated by intensity-modulated radiotherapy (IMRT) in combination with che-motherapy (CT) and by IMRT alone. Methods:A total of 72 newly diagnosed local/regional advanced NPC patients were randomly subjected to IMRT/RT+adjuvant CT (after radiotherapy, RT) (n=42) or IMRT+adjuvant CT (after RT) (n=30). The Kaplan-Meier meth-od was used to analyze the two-year local/regional control rates, distant metastasis-free survivals, and overall survivals. The acute and late radiation toxicities were evaluated based on the toxicity criteria of the Radiation Therapy Oncology Group and European Organiza-tion for Research and Treatment of Cancer. Results:A median follow up period of 13.5 months was included in the study. The one-year and two-year local/regional control rates, distant metastasis-free survivals, and overall survival in the IMRT group were 95.0%, 80.0%, and 95.0%, and 80%, 60.0%, and 75.0%, respectively. For the IMRT+CT group, such rates were 100%, 96.4%, and 96.4%, and 100%, 92.9%, and 92.9%, respectively. The two-year local/regional control rate and distant metastasis-free survivals in the IMRT+CT group were higher than those in the IMRT group (P<0.05). Most patients had grade 1 to grade 2 acute radiation toxicities and grade 0 to grade 1 late radiation toxicities (P>0.05). No patient showed a grade 4 acute or late toxicity. The blood and gastrointestinal toxicity rates were high in the IMRT+CT group (P<0.05). Conclusion:The IMRT+CT treatment has potential advantages over the IMRT in the treatment of local/regional advanced NPC patients in terms of local/regional control and overall survival. The blood and gastrointestinal toxicity rates in the IMRT+CT group were higher than in the IMRT group but still within a tolerable range.

Objective: To study the application effect of information-based health education WeChat platform on the cognition, attitude and behavior of pelvic floor muscle training (pelvic floor muscle training, PFMT) of puerpera, in order to provide an effective intervention method and scientific basis to improve the compliance level of PFMT. Methods: Full-term birth 329 cases of vaginal delivery have been chosen from August to September in 2017 in Beijing Obstetrics and Gynecology Hospital, Capital Medical University. They were divided into 3 groups: control group, audio group, video group by computer random digital table method. The number of the cases of the corresponding groups were 108,113, 108 cases. Control group was given general postpartum health education, audio group and video group were given continuation of voice remind audio guide and continuation of voice remind video guide respectively from postpartum 1 week to 7 weeks. The compliance level of PFMT of the three groups would be evaluated before and after the intervention. Results: The KAP(Knowledge, Altitude and Practice, KAP) scores of PFMT of control group, audio group and video group were 9.0(7.0,10.0), 11.0(8.0,12.0), 12.0 (11.0,13.0) points, respectively. There were significant differences between the video group and the control group, between the video group and the audio group and between the audio group and the control group (Z =-4.302, -10.233, -6.429, P<0.01). Comparison of the PFMT scores before and after the three groups, there was a visibility significant statistical difference in KAP scores (Z =-5.596, -11.762. -15.061, P< 0.01). Conclusions The maternals' knowledge level and physical activity level of PFMT are relatively low. Health care workers should enhance their knowledge about PFMT and improve their understanding of PFMT. WeChat platform to continue voice remind audio guide and continue voice remind video guide way of health education, could improve the KAP level of maternal PFMT and adherence. The KAP level of video guide health education is superior to the audio guide way of health education, which has clinical significance, and is worth popularizing.

Objective To investigate the clinical manifestions, pathological features and diagnosing methods of Lafora disease. Methods The chnical and pathological features of 5 patients with Lafora disease who were diagnosed by axillary biopsies were systemically studied. The specimen were stained by HE, PAS and AB-PAS methods. Results Four of 5 cases had an onset during adolescence and 1 during adulthood. All cases presented with progressive generalized tonic-clonic seizure, myoclonus and dementia. Emotional disturbance, dysarthria and ataxia appeared in the early course of the disease. Lafora bodys were identified in myoepithelial cells and duct cells of both eccrine sweat glands and apecrine sweat glands in the biopsies of axillary skin. Conclusions Lafora disease could be confirmed by round and oval periodic acid-Schiff- positive inclusions in skin biopsy specimen combined with the proper clinical settings. Both axillary and other skins can be chosen as the sites of biopsy.

Objective To study the combined use of ALPPS (associating liver partition and portal vein ligation for staged hepatectomy) with hepatic artery reconstruction in the treatment of hilar cholangiocarcinoma with hepatic arterial involvement.Methods The clinical data of 7 patients with hilar cholangiocarcinoma who underwent ALPPS combined with hepatic arterial resection and reconstruction were analyzed retrospectively.The technical points and the perioperative management were analyzed.Methods At the first stage,the relationship between the tumor and the vessels were explored,the portal vein of the part of the liver to be resected was ligated and the liver was transected with a CUSA (Cavitron Ultrasound Surgical Aspirator).Then the bile duct was cut and a hepaticojejunostomy was completed.Finally,under ultrasound guidance,a bile duct drainage tube was inserted transhepatically into the part of the liver which was to be resected.Two to three weeks later,and after enough hypertrophy of the liver remnant size was confirmed,tumor resection was completed with reconstruction of the hepatic artery.Results Seven patients underwent the second stage operation,with no perioperative death.Six patients developed pulmonary infection and were treated successfully with conservative treatment.Two patients developed postoperative bile leak with secondary abdominal infection.One patient developed postoperative hepatic artery thrombosis secondary to biliary tract infection.Conclusion ALPPS combined with hepatic artery reconstruction was safe and feasible in the treatment of hilar cholangiocarcinoma with hepatic arterial involvement.

Objective:To analyze the effect of Croton leaf on ERK1/2 pathway in hippocampal of rats with cerebral ischemia-reperfusion.Methods:A total of 216 SD male rats were divided into sham operation group, model group, nimodipine group, low-dose, medium-dose and high-dose groups of croton leaf according to random nubmer table method, with 36 rats in each group. The MACO model of rats was prepared by the method of wire embolization. The high, medium and low dose groups were intragastrated with the water decoction 0.06 g/ml, 0.12 g/ml and 0.18 g/ml of Croton leaf; nimodipine group was intragastrated with nimodipine suspension 1.08 g/L; sham operation group and model group were intragastrated with equal volume of normal saline. Garcia JH score was used to conduct neurological function score, and HE staining was used to observe the morphology of hippocampal neurons after 7 days of continuous administration. Apoptosis of hippocampal CA3/DG region was detected by TUNEL assay. Western Blot was used to detect the expression of ERK1/2 and p-ERK1/2 proteins.Results:Compared with the model group at simultaneous point, the neurological function scores of low-dose, medium-dose and high-dose groups of Croton leaf increased ( P<0.01), the number of apoptotic cells decreased ( P<0.01), the expression of p-ERK1/2 / ERK1/2 [1 d: (0.22±0.03, 0.34±0.02, 0.46±0.01 vs. 0.19±0.02); 3 d: (0.38±0.02, 0.50±0.02, 0.68±0.02 vs. 0.27±0.02); 7 d: (0.29±0.03, 0.43±0.02, 0.59±0.02 vs. 0.21±0.03)] in hippocampus of the low-dose, medium-dose and high-dose groups of Croton leaf significantly increased ( P<0.01). Conclusion:Croton leaf could regulate the expression of ERK1/2 pathway protein upward, effectively improve the neural function and resist the apoptosis of hippocampal CA3/DG area of rats with cerebral ischemia-reperfusion injury.

Objective:To explore application status and development trend of spinal muscular atrophy (SMA) genetic diagnosis technology based on the national rare diseases registry system of China.Method:A total of 200 SMA children registered at the Capital Institute of Pediatrics from July 2016 to December 2018 were included in this retrospective cross-sectional survey. The basic data, clinical subtypes, genotypes, and related genetic testing information of SMA children were obtained by checking SMA registration information, genetic testing reports, and also by telephone follow-up. The patient number and the composition of different genetic diagnosis technologies were analyzed by the stratification of genetic testing at various time. The correlation between the proportion of genetic diagnosis technology and genetic testing time was analyzed with Pearson correlation analysis.Result:There were 3 SMA cases with incomplete data, the remaining 197 SMA cases were included in this study. There were 37 (18.8%), 115 (58.4%) and 45 (22.8%) patients with type Ⅰ, Ⅱ and Ⅲ SMA, respectively. There were 185 cases of SMN1 homozygous deletion (93.9%), and 12 cases with compound heterozygotes (6.1%). Seven SMA-related genetic technologies were used from 2004 to 2017. MLPA accounted for 54.1% (100/185) used approach, followed by PCR-RFLP and first-generation sequencing, which accounted for 22.7% (42/185) and 10.3% (19/185), respectively. Nine, 6, 5 and 4 cases were tested with AS-PCR, qPCR, WES and DHPLC, respectively (2.2%-4.9%). The proportion of MLPA increased gradually since 2010 ( r=0.95, P<0.05), while PCR-RFLP declined gradually since 2004 ( r=-0.99, P<0.05). No correlation was found between technology and testing time for other genetic testing technologies ( P>0.05). The proportion of quantitative genetic technologies (MLPA, qPCR and DHPLC) increased gradually since 2010 ( r=0.94, P<0.05), and qualitative genetic technologies (PCR-RFLP, first-generation sequencing, AS-PCR and WES) decreased gradually since 2004 ( r=-0.94, P<0.05). The duplication detection rates of homozygous deletion and compound heterozygous mutation were 12.4% (23/185) and 41.7% (5/12), respectively (χ 2=5.86, P<0.05). During 2008-2015, the proportion of "the reports of both copy numbers of SMN1 gene and SMN2 gene" increased from 56.8% (21/37) in 2008-2015 to 69.1% (56/81) in 2016-2017. Conclusion:Genetic diagnosis of SMA has gradually developed from qualitative detection technology to quantitative detection technology, such as MLPA and qPCR, in China. In more and more SMA quantitative test reports, quantitative results of SMN2 gene are also provided in addition to quantitative results of SMN1 gene.

Objective:To systematically evaluate the efficacy and safety of precision thoracic radiotherapy (TRT) in the limited-stage small cell lung cancer (LS-SCLC) patients by network meta-analysis.Methods:Randomized controlled trials (RCTs) of TRT regimes in the LS-SCLC were electronically searched from PubMed, Web of Science, The Cochrane Library, CNKI and Wanfang Data from inception to September 1 st, 2021. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Statistical analysis was performed by Stata 17 and R 4.1.1 software. Results:A total of 6 RCTs involving 1730 patients with six radiation regimens including hyperfractionated radiotherapy (HFRT): HFRT 45(45 Gy/30 F) and HFRT 60(60 Gy/40 F); conventional fractionated radiotherapy (CFRT): CFRT 70(70 Gy/35 F) and CFRT 66(66 Gy/33 F); moderately hypofractionated radiotherapy (MHFRT): MHFRT 65(65 Gy/26 F) and MHFRT 42(42 Gy/15 F) were included. The network meta-analysis showed that: in terms of improving progression-free survival and overall survival, there was no statistically significant difference among the six radiotherapy regimens. The probabilistic ranking results were: MHFRT 65> HFRT 60>CFRT 66>CFRT 70>MHFRT 42>HFRT 45, and HFRT 60>MHFRT 65>CFRT 66>CFRT 70>HFRT 45>MHFRT 42, respectively. The HFRT 60 regimen was superior to other regimens in reducing the incidence of grade ≥3 pneumonia, and there was no difference between the regimens in causing grade ≥3 radiation esophagitis, and the results of ranking probability were: HFRT 60> MHFRT 42>CFRT 66>CFRT 70>HFRT 45>MHFRT 65, and HFRT 60>CFRT 70>CFRT 66>HFRT 45>MHFRT 42>MHFRT 65, respectively. Conclusions:HFRT 60 radiotherapy regimen may be more effective and safer in the treatment of LS-SCLC patients as a priority choice for LS-SCLC TRT. Limited by the number and quality of included studies, the above conclusions need to be verified by more high-quality studies.