Genetic analysis of a Chinese pedigree affected with Becker muscular dystrophy with myalgia as the main feature / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a Chinese pedigree affected with Becker muscular dystrophy (BMD) with myalgia as the main feature.@*METHODS@#Clinical data of the patients and results of auxiliary examinations were retrospectively analyzed. Multiplex ligation-dependent probe amplification and high-throughput sequencing were used to detect potential variants. Sanger sequencing was used to verify the results.@*RESULTS@#The clinical manifestations of the proband included myalgia and elevated serum creatine kinase, which is similar to another patient from the pedigree. Genetic testing revealed that the two patients both harbored hemizygous deletions of exons 10 to 29 of the DMD gene, for which the mother was a carrier. The same deletion was not found in his father. Based on the guidelines from American College of Medical Genetics and Genomics, the deletion was predicted to be pathogenic (PVS1+PM2+PP1).@*CONCLUSION@#Myalgia with elevated serum CK may be atypical clinical manifestations of BMD and may be associated with variants in the rod domain of the DMD gene. The deletion of exons 10 to 29 of the DMD gene probably underlay the BMD in this pedigree.

Effects of multicomponent training on nutritional status and muscle function in frail elderly adults / 中国实用护理杂志

Objective:To investigate the effect of multicomponent training on nutritional status and muscle function in older adults with frailty syndrome.Methods:A total of 120 elderly patients with frailty syndrome of Elderly Diagnosis and Treatment and Physical Examination Center,Jiangsu Provincial People′s Hospital from June 2018 to December 2019 were randomly divided into observation group and control group, each contained 60 cases. The control group received routine nursing care. On the basis of these, the observation group was given multicomponent training. The nutritional status, frailty status and muscle function were compared between two groups before and after 12 weeks of intervention.Results:Before intervention, there was no significant difference in the nutritional status, degree of frailty and muscle function between the two groups ( P>0.05). After intervention, the protein, skeletal muscle and total plasma protein, serum albumin, serum prealbumin and transferrin were (7.55 ± 1.34) kg, (21.37 ± 2.41) kg, (61.97 ± 5.69) g/L, (229.05 ± 17.67)mg/L, (42.14 ± 4.83) g/L, (2 364.29 ± 296.31) mg/L in the observation group, significantly higher than those in the control group (6.92 ± 0.97) kg, (20.31 ± 2.04) kg, (57.96 ± 5.22) g/L, (210.15 ± 27.99) mg/L, (37.66 ± 5.75) g/L, (2 247.42 ± 267.39) mg/L, the differences were statistically significant ( t values were 2.19-4.47, P<0.05). After intervention, the scores of physical, psychological and total frailty were 6.03 ± 0.71, 2.46 ± 0.73, 9.63 ± 0.99 in the observation group, significantly higher than in the control group (6.45 ± 0.95) pionts, (2.71 ± 0.52) pionts, (10.34 ± 1.20) pionts, the differences were statistically significant ( t=2.67, 2.02, 3.39, P<0.05). After intervention, the side-by-side, full-tandem, 4-m walk, repeated chair stands scores and total Short Physical Performance Battery (SPPB) scores were (0.87 ± 0.28) pionts, (1.65 ± 0.29) pionts, (2.09 ± 0.47) pionts, (1.93 ± 0.49) pionts, (7.36 ± 0.75) pionts, those socres were (0.72 ± 0.31) pionts, (1.50 ± 0.31) pionts, (1.87 ± 0.61) pionts, (1.70 ± 0.62) pionts, (6.55 ± 0.89) pionts in the control group, the differences were statistically significant ( t values were 2.16-5.18, P<0.05). Conclusions:Multicomponent training can improve the nutritional status and muscle function and delay the progress of frailty in elderly in elderly patients.

Intragastric balloon for weight reduction: rationale, benefits, risks and indications / 南方医科大学学报

Intragastric balloon (IGB) placement under endoscopy is a non-invasive method for weight loss.By placing a space-occupying balloon in the stomach, IGB treatment can achieve better effect of weight loss than medications.Herein we review the development of IGB, its effect on weight loss and the mechanism, and the eligible individuals for IGB treatment.We also examine the high-intensity postoperative management following IGB placement, which is important for maintaining long-term weight loss, and discuss the future development of IGB.The patients should understand that on the basis of ensuring a high safety, the weight-losing effect of IGB can be limited and relies heavily on postoperative management.Patients should make a decision on IGB placement after careful consideration of their own physical, economic, and psychological conditions, lifestyle and the line of work in addition to the indications of IGB.IGB placement combined with high-intensity postoperative management and active interventions of lifestyle and dietary habits help to achieve long-term effect of weight loss and improve obesity-related complications.

Opportunities and challenges of endoscopic sleeve gastroplasty / 南方医科大学学报

Obesity and its complications, such as type 2 diabetes, hypertension, hyperlipidemia, nonalcoholic fatty liver, are serious global public health problems. Endoscopic sleeve gastroplasty (ESG) can reduce the length and width of the stomach by simulating the anatomical structure of surgical sleeve gastrectomy to reduce the capacity of the stomach, and is safe and effective to reduce weight. ESG has the advantages of non- invasiveness, no gastrectomy, repeatability, simple operation, no incision scar, few complications, short hospital stay and quick postoperative recovery. As an intermediate means of medical treatment and surgery, ESG provides a new method for weight loss for obese patients who cannot tolerate or are unwilling to undergo surgery. Herein we trace the origin of ESG, analyze the unique advantages of ESG suture, explore the technical improvement in the development of ESG, and briefly describe the weight reduction effect of ESG and compare the curative effect of ESG with laparoscopic sleeve gastrectomy. ESG has undergone rapid development and maturity but also faces such challenges as the lack of established standard procedures, unclear weight reduction mechanism, and clarification of the indications for operation. Still, ESG is expected to become the mainstream technique for weight reduction.

Intratumoral and peritumoral lymphangiogenesis in colorectal cancer and their prognostic value / 中华普通外科杂志

Objective:To investigate the prognostic significance of introtumoral and peritumoral lymphangiogenesis in colorectal cancer.Methods:Lymphangiogenesis of 120 colorectal cancer specimens, as measured by lymphatic vessel density (LVD), were examined by immunostaining for podoplanin, a lymphatic specific marker. The mean number of lymphatic vessel in three hotspots was calculated in intratumoral and peritumoral areas as intratumoral LVD (LVDit) and peritumoral LVD (LVDpt) respectively. The association of LVDit and LVDpt with the clinicopathologic findings and prognosis were investigated.Results:Compared to the peritumoral lymphatics, the intratumoral lymphatics were small, collapsed and irregular. LVDit was positively correlated with tumor size ( t=2.673, P=0.009), tumor histologic grade ( t=-2.296, P=0.023), and overall survival (χ 2=4.386, P=0.036). LVDpt was associated with lymph node metastasis ( t=-4.053, P<0.001), tumor stage ( t=4.740, P=0.004) and overall survival (χ 2=5.806, P=0.016). Conclusions:LVDpt played an important role in lymph node metastasis, while LVDit was more correlated with tumor growth and histopathologic differentiation. Both LVDs contribute to colorectal cancer progression and predict poor prognosis.

Safety and effectiveness of transoral robotic surgery for oropharyngeal cancer: a pilot study / 中华耳鼻咽喉头颈外科杂志

Objective@#To evaluate the indication, safety and effectiveness of transoral robotic surgery (TORS) for oropharyngeal cancer based on our preliminary experience.@*Methods@#Twelve patients, including six with tonsil cancer, five with tongue base cancer and one with posterior pharyngeal wall cancer, who underwent TORS with Da Vinci Si surgical system from March 2017 to October 2018 at Tongji Hospital of Huazhong University of Science Technology were respectively analyzed. And the surgical time, intraoperative blood loss, postoperative local bleeding, dyspnea, nerve function injury, oral intake time, whether or not to receive chemoradiotherapy were analyzed.@*Results@#All tumors in the 12 patients were en bloc removed by TORS. Surgical time ranged from 25 to 80 min with an average of 34.2 min. The blood loss ranged from 10 ml to 50 ml with an average of 20.8 ml. The recovery time for oral intake ranged from 1 day to 30 days with an average of 8.4 days. No patient underwent tracheostomy after TORS. Also, no patient manifested with airway obstruction, bleeding or nerve injury symptoms after operation. All 12 patients reached pathologically negative surgical margins. The patients were followed up for 4 to 22 months, with a median of 12 months. All patients who combined with more advanced than T3 stage, or more advanced than N2 stage were recommended to oncologist, then, followed with radiotherapy or chemoradiotherapy if no relevant contradictions occurred. No local recurrence or distant metastasis case was found.@*Conclusion@#With proper indications, the application of TORS in oropharyngeal cancer is a relatively safe, effective and minimal invasive therapy, which merits more clinical applications.

Clinical and genetic analysis of three pedigrees affected with myotonic dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To carry out clinical and genetic analysis for three pedigrees affected with myotonic dystrophy type 1 (DM1).</p><p><b>METHODS</b>Three probands with clinically diagnosed DM and their familial members were recruited. Clinical data of the patients including clinical manifestations, electrocardiogram (ECG), and electromyogram (EEG) was collected.</p><p><b>RESULTS</b>The clinical symptoms of all probands have progressed slowly and included myotonia, muscle weakness and muscle atrophy as the main manifestations. Disorders of other systems have included cataract, arrhythmia, alopecia, sexual dysfunction, and cognitive impairment. The EEG of the probands showed characteristic myotonia discharges. Genetic analysis revealed over 50 CTG repeats at the 3' end of the DMPK gene in all three probands.</p><p><b>CONCLUSION</b>DM1 is a complex hereditary disorder involving multiple systems and overlaps with other diseases. In addition to clinical symptoms and EEG, genetic testing can facilitate its diagnosis at early stages.</p>

Matrix metalloproteinases-11 collabrotive matrix metalloproteinases-14 promote development of breast carcinoma / 中国免疫学杂志

Objective:To investigate the expression pattern of MMP-11 and MMP-14 in breast carcinoma, and the effect of MMP-11 on breast carcinoma cell migration and invasion. Methods:MMP-11 and MMP-14 expression were examined in 161 invasive breast carcinoma tissue samples and 10 normal breast tissue samples. siRNA was used to knockout MMP-11 in breast carcinoma cell line MB-231 and Transwells were used to evaluate changes in migration ability and invasion ability. Results:Both MMP-11 and MMP-14 were highly expressed in breast carcinoma samples,122 and 149 samples out of 161,respectively. The expression of both proteins were correlated with lymph node metastasis and TNM staging. After knockout of MMP-11,the expression of both proteins decreased in MB-231 cell line and experiments show that the cell′s migration and invasion abilities were significantly weakened. Conclusion:MMP-11 and MMP-14 could promote invasion and metastasis of breast carcinoma. Knockout of MMP-11 results in the downregulated expression of MMP-14,and the inhibition of breast carcinoma cell′s migration and invasion. They could be potential prognostic markers and treatment targets for of breast carcinoma.

Effects of nurses′ risk perceptions of human immunodeficiency virus occupational exposure on their attitudes and behavior of self-protection / 中国实用护理杂志

Objective To explore the effects of nurses′ risk perceptions of occupational HIV exposure and the self-efficacy on their attitudes and behavior of self-protection in nursing care. Methods An anonymous survey was conducted in eligible nurses with self-designed questionnaire in three conveniently selected comprehensive hospitals in Wuhan. Structural equation modeling was applied in the data analysis. Results Risk perceptions exerted positive effects on the attitudes of self-protection. The standardized path coefficient was 0.45 (P=0.009). The attitudes of self-protection and the risk perceptions exerted no impact on the behavior of self-protection (P > 0.05).The impacts of the self-efficacy on the attitudes and the behavior of self-protection was positive. The standardized path coefficient was 0.15(P=0.02)and 0.53 (P<0.01), respectively. Conclusions Risk perceptions exerted positive effects on the attitudes of self-protection. But the attitudes of self-protection and the risk perceptions exerted no impact on the behavior of self-protection. Self-efficacy can improve the attitudes of self-protection and enhance the behavior of self-protection.

Current situation and trends in blockade of targeted immune checkpoints in cancer immunotherapy / 中国肿瘤临床

The blockade of targeted immune checkpoint is one of the most promising approaches to activate therapeutic antitu-mor immunity. The immune checkpoint refers to a plethora of inhibitory pathways in the immune system. These pathways are crucial for maintaining self-tolerance and modulating the duration and amplitude of physiological immune responses in peripheral tissues to minimize collateral tissue damage. Tumors co-opt certain immune-checkpoint pathways as a major mechanism of immune resistance. Cytotoxic T-lymphocyte-associated antigen 4 antibodies were the first of this class of immunotherapeutics to acquire approval from the US Food and Drug Administration. Preliminary clinical findings with blockers of additional immune-checkpoint proteins, such as pro-grammed cell death protein 1, indicate broad and diverse opportunities to enhance anti-tumor immunity with the potential to produce du-rable clinical responses. Classic chemotherapy exerts significant immunomodulatory effects on tumor cells via multiple mechanisms. Therefore, the combination of immunotherapy, including immune checkpoint blockade with chemotherapy, is a new promising trend in anti-tumor immunotherapy.

Circulating tumor cells in breast cancer / 国际肿瘤学杂志

Circulating tumor cells (CTCs) in breast cancer patients can be detected by Cell Search system. Results from recent studies suggested that CTCs level might serve as a prognostic marker and be used in the early assessment of therapeutic response in patients with metastatic breast cancer. However the role of CTCs in early stage breast cancer is not well established. Large prospective trials are needed to further understand its biological characteristics and to confirm its role as a predictive and prognostic marker.

Measurement of Alveolar Surfactant after Acrylsmide-induced Lung Injurids / 医学研究杂志

Objective To observe the change of composition of PL and content of protein in PS after anatoxin damnify lung.Methods The rats lung injury models were made by intratracheally instilling anatoxin(0.1mg/kg,0.4mg/kg).24 rats were divided into four groups:12hour group,2day group,3day group,5day group.Pr of each group were examined by electron microscope,content of PL,composition of PL and content of protein of each group wete determinde respectively.Results Rats lungs in experimental guoups were found that PS lost continuously,dropped in the pulmonary alveolies.12hour group was more apparent.Content of protein in PS was the highest in 12hour group,Content of PL in PS go add,12hour group was more apparent.Conclusion Morphologic change and alternation of quality and quantity of PS after anatoxin-induced pulmonary injures specifically reflect the activity of lung danmify.Measuring content of PL and PI is sign of simple and feasible method when lungs of the rats are injured early by bleomycin.

An experimental study of magnetic maxillary expansion by electronic speckle pattern interferometry / 实用口腔医学杂志

Objective:To investigate the biomechanical effect of magn et ic expansion by a new electronic speckle pattern interferometry. Methods :One fresh human skull of 12 years old with intact suture tissues and pe riodontal membrane was adopted. Magnetic expansion was loaded on the maxilla for 1,5,15,30 and 60 min respectively by magnetic force (NdFeB).Relative informa tion on the maxillary complex was acquired by electronic speckle pattern interfe rometry(ESPI). The deforming fringes was processed by the microcomputer image s ystem and the corresponding out-of plane displacement of the maxillary complex was analyzed. Results:Fringes of the maxillary complex were obs erved on monitor screen when magnetic force was loaded. From 1 min to 30 min-lo ading the fringe density was increasing, but decreased 1 h after loading. There was no fringe in the suture of the skull. Greate deformity was found on the lowe r part of maxilla. Conclusion:Magnetic force of expansion is con centrated in the deep structure of the maxillary complex.

Inhibitory effect on human breast cancer SKBr-3 cells by RNA interference of survivin gene / 中国癌症杂志

Purpose:To study the RNA interference-mediated inhibition of survivin gene on the proliferation of human breast cancer SKBr-3 cells. Methods:SKBr-3 cells were transfected with a pSUPER-S1 vector plasmid that expressed survivin-targeted small interfering RNA, and the mRNA and protein levels of survivin gene were measured with RT-PCR and indirect immunofluorescence, respectively. The proliferation of transfected SKBr-3 cells was investigated through colony forming assay and MTT assay. The cell cycle phases were determined by flow cytometry(FCM). Results:The mRNA and protein levels of survivin declined markedly in pSUPER-S1-transfected SKBr-3 cells. And the colony forming rate of those cells(38?16.70)% was significantly lower than that of the control cells(90.3?4.04)%.The growth of the pSUPER-S1-transfected cells was decelerated and the cell cycle was mainly blocked at G_(1) phase(74.03?8.91)%. Conclusions:survivin gene silencing by RNA interference contributed to a distinctive inhibition of the proliferation of human breast cancer SKBr-3 cells in vitro.

Correlation of p16 mutation and biological behavior in Chinese laryngeal cancer / 临床耳鼻咽喉头颈外科杂志

To investigate the correlation between p16 gene mutation and laryngeal cancer biological behavior as well as its prognosis in laryngeal cancer.Method:24 speciments of primary laryngeal cancer and 10 speciments with benign lesion in larynx were examined for mutations in exon2 of p16 by using PCR-SSCP silver stainning technique.Result:Mutations frequency of laryngeal cancer was62.5% (15/24).Nothing was found in 10 cases with laryngeal benign lesion.Conclusion:There is a strong correlation between p16 gene mutation and the biological behavior of chinese laryngeal cancer, such as histologic differentiation, invasion stage, and regional lymph nodes metastasis(P≤0.05).PCR-SSCP silver tainning technique is one of the most sensitive and simplest measure for detecting genetic mutation.It is worth using in clinical laboratory because of its readiness, repetition and lower cost.

Necessity and Basis Principle of Hearing and Speech Rehabilitation After Cochlear Implantation(2 Caases Reports) / 听力学及言语疾病杂志

Objective To emphasize the necessitya and principle of hearing and speech training after cochlear implantatiom.Methods 2 cases evaluation pre-and post-operation.Results The result of 1 case who carried out effective hearing and speech training post-operation is much better than the result of another one who did not do the training.Conclusion The deaf children can get hearing by cochlear implant.In order to get good rehabilitation result,they should do scientific and effective hearing and speech training.