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Objective:To investigate the genetic distribution of pathogenic genes of Charcot-Marie-Tooth diseases (CMT) in Chinese Han population, and compare the similarity and difference with the data in Peking University Third Hospital in 2013.Methods:Five hundred and twenty families with CMT and related diseases in Peking University Third Hospital and China-Japan Friendship Hospital from January 2007 to March 2021 were collected. After peripheral myelin protein 22 (PMP22) gene duplication and deletion mutations were initially detected by multiple ligation probe amplification, the probands of these families were sequenced by next-generation sequencing (NGS) gene panel or whole exome sequencing, and validated by Sanger sequencing.Results:Among the 520 families, 336 CMT families were genetically confirmed, and the mutation detection rate increased from 48.6% (51/105) in 2013 to 64.6% (336/520) in 2021 (χ 2=9.54, P=0.003). Among them, 139 families had PMP22 gene duplication mutation (139/520, 26.7%), 46 families had gap junction beta-1 (GJB1) gene mutation (46/520, 8.8%), 26 families had mitofusin-2 (MFN2) gene mutation (26/520, 5.0%), 12 families had myelin protein zero (MPZ) gene mutation (12/520, 2.3%), 11 families had PMP22 gene point mutation (11/520, 2.1%), and 10 families had heat shock protein B1 gene mutation (10/520, 1.9%). There were 10 families with ganglioside induced differentiation associated protein 1 (GDAP1) gene mutation (10/520, 1.9%), 8 families with SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene mutation (8/520, 1.5%), 7 families with immunoglobulin mu DNA binding protein 2 (IGHMBP2) gene mutation (7/520, 1.3%), 6 families with MORC family CW-type zinc finger 2 (MORC2) gene mutation (6/520, 1.2%), 5 families with sorbitol dehydrogenase (SORD) gene mutation (5/520, 1.0%), 16 families with very rare gene mutation (16/520, 3.1%) and 184 families without genetic diagnosis (184/520, 35.4%). Conclusions:Compared with the results in 2013, the 3 most common genes affecting CMT were still PMP22, GJB1 and MFN2 genes, but the proportion difference of patients with MPZ gene mutation gradually decreased with other genes such as SH3TC2 and GDAP1 genes. The proportion of newly discovered CMT genes, such as MORC2 and SORD genes, was similar with IGHMBP2 gene, which should be paid more attention. NGS greatly improved the detection rate of CMT, especially for patients with autosomal recessive-CMT.
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Objective:To investigate the clinical and genetic characteristics of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with replication factor C subunit 1 (RFC1) gene mutation to improve the understanding of this disease.Methods:A case of CANVAS diagnosed in the Peking University Third Hospital in January 2021 was reported. Detailed genetic analyses of ataxia were performed with DNA extracted from the peripheral blood of the patient. Studies including pathogenic variants of RFC1 gene causing CANVAS were reviewed and the clinical and genetic characteristics of the disease were summarized.Results:The patient was a 51-year-old female with the prominent manifestation of progressive walking instability. And the clinical data met the diagnostic criteria of CANVAS. The genetic tests excluded other hereditary ataxia mutations and identified the biallelic expansion of the pathogenic variant structure (AAGGG)exp repeat amplification in RFC1 gene. A total of 14 studies on CANVAS with RFC1 gene mutation were reviewed. The overall mutation rate of RFC1 gene in CANVAS was 68%-100%, and it varied in sporadic and familial CANVAS. And the mutation had ethnic differences.Conclusions:Among adult patients with late-onset ataxia, the combination of brain magnetic resonance imaging, electrophysiology tests and vestibular function examination is beneficial to the identification of CANVAS. And the genetic test of RFC1 gene has significant value in the diagnosis of this disease. This patient with CANVAS expands the disease spectrum of ataxia in China, and confirms that RFC1 gene mutation is of great significance in the screening of ataxia disorders in the Chinese population.
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Objective:To explore the effect of nurse-led multi-disciplinary team management on postoperative gastrointestinal function and nutritional status in elderly colon cancer inpatients.Methods:A total of 75 elderly inpatients after colon cancer operation who met eligibility criteria and signed informed consent form were randomized into study (n=37) or control group (n=38), receiving nurse-led multi-disciplinary team management or routine nursing for 6 months, respectively. The gastrointestinal function, days of postoperative hospital stay, body weight, body composition and dietary intake were compared between the two groups.Result:Compared to the control group, time to defecation (t=14.79, P<0.01), time to initiation of liquid diet intake (t=6.80, P<0.01), time to initiation of semi-liquid diet intake (t=10.78, P<0.01) and days of postoperative hospital stay (t=8.76, P<0.01) in the study group were significantly shortened; and body weight [(59.44±6.12)kg vs. (62.54±6.41)kg, P=0.004], BMI [(19.02±4.13)kg/m 2 vs. (19.98±3.98)kg/m 2, P=0.025], body fat percentage [(20.03±3.55)% vs. (21.34±3.68)%, P<0.01], lean body mass [(19.63±3.44)kg vs. (21.45±3.16)kg, P<0.01], grip strength [(21.65 ± 3.56) kg vs. (22.48 ± 3.81) kg, P=0.011], attainment rate of 75% target energy intake (65.8% vs. 86.5%, P=0.036) and attainment rate of 75% target protein intake (57.9% vs. 83.8%, P=0.014) were significantly improved in study group 6 months after operation. Conclusion:The nurse-led multi-disciplinary team management can effectively improve the postoperative recovery of gastrointestinal function and the long-term nutritional status in elderly patients with colon cancer.
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@#Dendrimers, a special class of synthetic polymers known for their well-defined ramified structures and unique multivalent cooperativity, hold great promise for various biomedical applications. However, preparation of defect-free dendrimers of high-generation on a large scale remains challenging because of the tedious and time-consuming synthesis as well as difficult purification. To overcome these limitations, an alternative strategy based on self-assembling approach has been developed to construct supramolecular dendrimers using small amphiphilic dendrimer-building units. By virtue of the amphiphilic nature, these small dendrimer-building units self-assemble and form large non-covalent supramolecular dendritic structures that mimic high-generation covalent dendrimers. Here, we present a brief overview of the supramolecular dendrimers developed in our group for the delivery of nucleic acid therapeutics, anticancer drug and imaging agents.
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Current advances of immunotherapy have greatly changed the way of cancer treatment. At the same time, a great number of nanoparticle-based cancer immunotherapies (NBCIs) have also been explored to elicit potent immune responses against tumors. However, few NBCIs are nearly in the clinical trial which is mainly ascribed to a lack understanding of
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Objective:To investigate the prevalence of nutritional risk and application of nutritional support among elderly hospitalized patients.Methods:Elderly hospitalized patients from Peking Union Medical College Hospital (PUMCH) were consecutively enrolled from Feb 2016 to Feb 2019. Nutritional risk was measured by using nutritional risk screening 2002 (NRS-2002) within the first 24h after admission. Body weight (BW), body mass index (BMI), grip strength (GS), lean body mass (LBM), body fat (BF) and dietary intake were measured and compared between the patients at risk and not at-risk. Nutritional support was evaluated on 14th day of admission or the discharge day. The relationship between nutritional risk and nutrition support was analyzed.Results:A total of 428 elderly hospitalized patients who met entry criteria and obtained informed consent were consecutively enrolled. The prevalence of nutritional risk (NRS score≥3) was 57.9% (248/428), and it increased significantly with age ( χ2 value was 39.11, P<0.05). Compared to not at-risk group, body weight ( t value was 3.405, P<0.01) , BMI ( t value was 2.715, P<0.05) , GS ( t value was -0.975, P<0.05) , BF% ( t value was 2.934, P<0.05) , LBM ( t value was 1.570, P<0.05) , 75% target energy intake ( χ2 value was 22.55, P<0.01)and 75% target protein intake ( χ2 value was 25.91, P<0.01) were significantly decreased in those of at risk group. There were 62.5% patients at nutritional risk and 19.7% not at-risk which received nutrition support. The average ratio of EN and PN was 1.0∶0.6. Conclusions:NRS-2002 might be used for nutritional screening among elderly inpatients. A large proportion of elderly inpatients were at nutritional risk. The nutritional status of elderly patients in different disease states is different, which deserves attention. The application of EN and PN was some inappropriate in these inpatients, and evidence-based nutritional support guideline is needed to improve this situation.
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Objective@#To explore the effect of nutritional support based on clinical nursing pathway on nutritional status and quality of life among elderly inpatients with Alzheimer disease (AD).@*Methods@#A total of 101 elderly inpatients with AD who met the criteria of the protocol were consecutively enrolled and randomly divided to study group receiving nutritional support based on clinical nursing pathway for two months (n=51) and control group receiving routine nutritional management for 2 months (n=50). Nutritional risk and quality of life were measured by nutritional risk screening 2002 (NRS 2002) and Quality of Life-Alzheimer's Disease Scale (QOL-AD) respectively before and after nutritional support.@*Results@#Baseline data were comparable between the two groups (all P>0.05). After 2-month nutritional support, compared to the control, the incidence of nutritional risk (36.0% vs 17.6%, P=0.037) and undernutrition (26.0% vs 9.8%, P=0.033) decreased significantly in study group. The score of quality of life in study group were significant higher than that of control group (35.73±5.85 vs 30.76±6.14, P=0.023).@*Conclusion@#The nutritional support based on clinical nursing pathway is helpful to improve the nutritional status and quality of life in elderly hospitalized patients with AD.
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@#Small interfering RNA-based RNA interference(RNAi)is an emerging treatment which has attracted more and more attention from both academia and industry. Studies on clinical translation of siRNA are popular in biomedical field, where safe and efficient carriers are necessary. As novel drug/gene vectors, dendrimers are widely used in siRNA delivery due to their unique and precise structure, multiple terminal groups and nano-sized chemophysical properties. Here, we present an overall view of current studies on dendrimer-based siRNA delivery systems, with the aim to provide an understanding of future siRNA therapeutics which could be used in clinic.
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Objective To explore the effect of nutritional support based on clinical nursing pathway on nutritional status and quality of life among elderly inpatients with Alzheimer disease (AD). Methods A total of 101 elderly inpatients with AD who met the criteria of the protocol were consecutively enrolled and randomly divided to study group receiving nutritional support based on clinical nursing pathway for two months (n = 51) and control group receiving routine nutritional management for 2 months (n =50). Nutritional risk and quality of life were measured by nutritional risk screening 2002 (NRS 2002) and Quality of Life-Alzheimer's Disease Scale (QOL-AD) respectively before and after nutritional support. Results Baseline data were comparable between the two groups (all P>0. 05). After 2-month nutritional support, compared to the control, the incidence of nutritional risk (36. 0％ vs 17. 6％, P = 0. 037) and undernutrition (26. 0％ vs 9. 8％, P = 0. 033) decreased significantly in study group. The score of quality of life in study group were significant higher than that of control group (35. 73±5. 85 vs 30. 76±6. 14, P = 0. 023). Conclusion The nutritional support based on clinical nursing pathway is helpful to improve the nutritional status and quality of life in elderly hospitalized patients with AD.
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Objective To explore the diagnostic value of tremor analysis in patients with coexisting essential tremor (ET) and Parkinson's disease (PD).Methods A cross-sectional survey was conducted to collect 30 patients with PD,30 patients with ET and 20 patients with ET + PD in Peking University Third Hospital from January 2015 to December 2017.Tremor analysis was performed in all the patients.Results There were statistically significant differences in age (63.0(54.8,68.0),49.0(26.5,58.5),57.0(50.0,66.0) years,H=21.336,P＜0.05),disease course (12.0(8.0,13.3),36.0(12.0,87.0),22.0(11.5,33.0) years,H=18.233,P＜0.05) and Unified Parkinson's Disease Rating Scale score (21.13± 8.85,8.00± 3.68,24.35±9.14,F=36.443,P＜0.05) among the PD,ET and ET+PD groups.The average tremor frequencies in PD,ET and ET+PD groups at rest were (5.46±0.77),(7.11 ± 1.80) and (6.18± 1.55) Hz,respectively,with statistically significant differences among the three groups (F=5.77,P=0.006).The average tremor frequencies in the three groups at posture were (6.19±2.21),(8.23± 1.96) and (6.49± 1.23) Hz,respectively,with statistically significant differences (F=9.673,P＜0.01).There was no statistically significant difference in tremor amplitude among the three groups at rest and posture position.In the PD,ET and ET+PD groups,the proportion of electromyography alternating contractions of the active and antagonistic muscles was 76.9％(20/26),0/6 and 5/15 at rest (x2=17.192,P＜0.01),and 53.8％ (14/26),20.0％ (6/30) and 4/15 at posture (x2=7.564,P=0.023),both with statistically significant differences.Conclusions The clinical manifestations of patients with ET+PD have both characteristics of PD and ET,but they have their own characteristics.Tremor analysis can objectively identify the bilaterally synchronous or alternate discharges of electromyography at rest,which are different from those of typical PD and ET.Tremor analysis is helpful for the identification of this disease.
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@#In comparison with the traditional two-dimensional tumor cell culture, the three-dimensional tumor spheroid culture can not only provide with an in vivo-like growth environment for tumor cells, but also maintain maximum cell activities. Therefore, the three-dimensional tumor spheroid culture is widely used in oncology research. In particular, the three-dimensional tumor cells retain the material and structural basis of the microenvironment of tumor in vivo, which is closer to the actual physiological environment, allowing it to be an ideal in vitro model for evaluating the tumor treatment response and drug resistance in tumors. This review summarizes the mechanisms of drug resistance in three-dimensional tumor cells, especially those induced by the morphology and microenvironment of three-dimensional tumor spheres, and puts forward the problems existing in the current three-dimensional tumor cells model, as well as the future development direction.
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Objective To investigate the correlation between nutritional status in elderly patients with Alzheimer disease (AD) and self-efficacy of their caregivers.Methods Ninety-two elderly patients with AD and 92 their caregivers were enrolled from a Peking Union Medical College in Beijing from March to October 2017,who were evaluated by the mini nutritional assessment short form (MNA-SF) and the general self-efficacy scale (GSES) respectively for the nutritional status of the AD patients and the self-efficacy of their caregivers,and the correlation between them was analyzed.Results The average MNA-SF score of the AD patients was 7.8± 2.5.The incidence of malnutrition risk and malnutrition were 34.8％ and 27.2％ respectively.The MNA-SF score of the AD patients decreased (F =4.589,P =0.009),and the incidence of malnutrition risk (x2 =7.319,P =0.026) and malnutrition (x2 =7.080,P =0.032) increased significantly with the aggravation of AD.The average self-efficacy score of the caregivers was 2.20±0.45.With the aggravation of AD,the GSES score of the caregivers decreased significantly (F=3.122,P=0.016).There was a positive correlation between the nutritional status of the AD patients and the self-efficacy of their caregivers (r =0.254,P =0.022).Conclusion The nutritional status in elderly patients with AD is positively correlated with the self-efficacy of their caregivers,that is,the higher GSES score of the caregiver is,the better nutritional status of the AD patient has.
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Objective To explore the effect of nurse-led intensive nutritional intervention on nutritional risk,undernutrition and quality of life in hospitalized Alzheimer disease (AD) patients.Methods A total of 170 hospitalized AD patients who met the criteria of the protocol were enrolled and divided randomly into two groups as study group (n=86) and control group (n=84).The two groups received nurse-led intensive nutritional intervention and routine nutritional management respectively for six weeks.Nutritional risk,undernutrition and quality of life were measured by nutritional risk screening 2002 (NRS 2002) and quality of life-Alzheimer disease scale before and after the nutritional intervention.Results There was no significant difference in baseline data between the two groups.The suitable rate of NRS 2002 was 100％.After a 6-week intervention,the prevalence of nutritional risk (41.9％ vs.70.9％,P＜0.001) and undernutrition (17.4％ vs.30.2％,P =0.049) decreased significantly in study group.The prevalence of nutritional risk was significantly lower in study group than in control group (41.9％ vs.64.3％,P=0.003).The score of quality of life in study group significantly increased (34.12±5.91 vs.31.56±6.80,P=0.028) after the intervention,and was significantly higher than that of the control group (34.12±5.91 vs.31.63± 6.22,P=0.030).Conclusion The application of nurse-led intensive nutritional intervention can help to improve the nutritional status and quality of life in hospitalized AD patients.
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Objective To evaluate the effectiveness of family-centered educational intervention on fall prevention knowledge and attitude,compliance and fall incidence of elderly inpatients. Methods A total of 300 elderly inpatients were selected in a first-class grade A hospital in Beijing and divided into the experiment group and the control group equally.The intervention group was given family-centered educational intervention for 6 months,while the control group was given conventional treatment and care in ward.The knowledge and attitude,compliance and the incidence of falls of elderly inpatients were evaluated at discharge and 3 months,6 months after discharge. Results The knowledge and attitude, compliance of elderly inpatients in the intervention group were significantly better than that in the control group (P<0.05).The incidence of falls in the intervention group was significantly lower than that in the control group at discharge and 3 months,6 months after discharge (P<0.05). Conclusions The family-centered educational intervention can enhance the fall prevention knowledge, attitude and compliance of elderly inpatients effectively and reduce the incidence rate of falls.The long-term effect is relatively obvious.
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Objective To investigate the effect of ultrasound-guided serratus plane (SP) block on efficacy of postoperative analgesia in patients undergoing radical mastectomy.Methods From February 2012 to October 2016,sixty American Society of Anesthesiologists (ASA) physical status Ⅰ or Ⅱ patients scheduled for radical mastectomy under general anesthesia were randomly divided into two groups (n =30 each):SP block group (observation group) and control group.After induction of anesthesia,ultrasoundguided homolateral SP block was performed,and 0.375％ ropivacaine 20 ml was injected in observation group,while the equal volume of normal saline was used instead in control group.The patients received patient-controlled intravenous analgesia (PCIA) with sufentanil after operation in the two groups.The scores of prince henry pain scale (PHPS) were evaluated at 2,4,8,12 and 24 hours (T1,T2,T3,T4,T5) after operation.The consumption of sufentanil,propofol and remifentanil were recorded,meantime the times of successfully delivered doses (D1) and attempts (D2) within 24 h after operation were added up,calculating D1/D2.The adverse effects were also recorded.Results The scores of PHPS at T1 [(1.4 ± 0.6) scores vs (3.1 ±0.7) scores],T2 [(1.5 ±0.7) scores vs (2.9 ±0.9) scores],T3 [(1.7 ±0.6) scores vs (2.8±0.8) scores],and the consumption of sufentanil [(53.4 ± 16.8) μg vs (87.8 ±24.6) μg],remifentanil [(288.7 ±42.2) μg vs (376.5 ±61.7) μg] were significantly lower in observation group than in control group,while D1/D2 (0.89 ±0.13 vs 0.57 ±0.19) was higher (P ＜0.05).The incidence of adverse reactions was significantly lower in the observation group (0 vs 23.3 ％) (P ＜ 0.05).Conclusions Ultrasound-guided SP block reduces the consumption of perioperative opioids and enhances the efficacy of postoperative analgesia in patients undergoing radical mastectomy.
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In recent years,cancer immunotherapy has developed rapidly due to its significant advantages compared with the traditional cancer treatment methods.Tumor immunotherapy aims at mobilizing or stimulating the body's own immune function,thereby inhibiting and killing cancer cells.With the development of nanotechnology,biological nano-carrier materials provide a new insight into the vaccine development.Nano-vaccines are therapeutic or prophylactic vaccines based on nanotechnology including exogenous antigens for inducing immune responses,vectors delivering antigens,and adjuvants for enhancing immunogenicity and accelerating and prolonging the availability of cancer vaccines.Nano-delivery vectors have good biocompatibility as well as unique physical and chemical properties.They can effectively deliver the antigens,and further activated the immune response of antigenspecific cellulars based on the activation of the body's humoral immunity by regulating the presentation pathways in the antigen-presenting cells.In this paper,the applications of nano-delivery systems in cancer vaccine research were summarized.
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Immunological checkpoints are a mechanism evolved by human beings to control the intensity and duration of immunoreaction and minimize the excessive inflammatory responses and autoimmune diseases caused by overactive immune responses.Compared to radiotherapy,chemotherapy and other traditional treatments,immunotherapy has fewer side effects on normal cells,and has become an emerging technology in tumor treatments.As the focus on tumor treatment research,immunological checkpoint therapy can damage the tumor cells by breaking the immune tolerance and activating the body's own immune system,which make it a promising treatment method.In this paper,the mechanisms of immune activation,immune regulation and immune evasion were described.The action mechanism and clinical application of anti-cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) and programmed cell death receptor-1 (PD-1) were summarized.The application prospect of immune checkpoint inhibitors was discussed.
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In recent years,cancer immunotherapy has developed rapidly due to its significant advantages compared with the traditional cancer treatment methods.Tumor immunotherapy aims at mobilizing or stimulating the body's own immune function,thereby inhibiting and killing cancer cells.With the development of nanotechnology,biological nano-carrier materials provide a new insight into the vaccine development.Nano-vaccines are therapeutic or prophylactic vaccines based on nanotechnology including exogenous antigens for inducing immune responses,vectors delivering antigens,and adjuvants for enhancing immunogenicity and accelerating and prolonging the availability of cancer vaccines.Nano-delivery vectors have good biocompatibility as well as unique physical and chemical properties.They can effectively deliver the antigens,and further activated the immune response of antigenspecific cellulars based on the activation of the body's humoral immunity by regulating the presentation pathways in the antigen-presenting cells.In this paper,the applications of nano-delivery systems in cancer vaccine research were summarized.
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Immunological checkpoints are a mechanism evolved by human beings to control the intensity and duration of immunoreaction and minimize the excessive inflammatory responses and autoimmune diseases caused by overactive immune responses.Compared to radiotherapy,chemotherapy and other traditional treatments,immunotherapy has fewer side effects on normal cells,and has become an emerging technology in tumor treatments.As the focus on tumor treatment research,immunological checkpoint therapy can damage the tumor cells by breaking the immune tolerance and activating the body's own immune system,which make it a promising treatment method.In this paper,the mechanisms of immune activation,immune regulation and immune evasion were described.The action mechanism and clinical application of anti-cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) and programmed cell death receptor-1 (PD-1) were summarized.The application prospect of immune checkpoint inhibitors was discussed.
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Objective To explore the effects of surface functionalized multi-walled carbon nanotubes (FMWCNTs) on the cytotoxicity of human peripheral blood mononuclear cell (PBMC).Methods Five different types of MWCNTs (hydroxylated,carboxylated,aminated,nickel-plated and pristine MWCNTs (P-MWCNTs)) with the same diameter and length were evaluated the dispersion and characterizations in physiological salt solution by transmission electron microscopy.PBMC were isolated by density gradient centrifugation from human peripheral blood,and 5 types of MWCNTs were ultrasonically dispersed in serum-containing medium respectively.After incubation with PBMC for 12,24,48 or 72 h,cytotoxicity was detected by CCK-8 kits.Results All the MWCNTs had well dispersion,especially the F-MWCNTs.Cytotoxicity results showed that all types of MWCNTs could induced PBMC death,and presented dose-dependence manner and a certain degree of time-dependence manner.Compared with the P-MWCNTs,F-MWCNTs changed cytotoxicity statistically,with the hydroxylated,carboxylated,aminated MWCNTs weakened,aminated MWCNTs significant (P＜0.05),nevertheless the nickel-plated MWCNTs increased.Compared with the P-MWCNTs (25 μg/ml),cell viability of PBMC after 24 and 48 h incubation with the same dose of nickelplated MWCNTs both decreased,and the differences was statistically significant (P＜0.01,P＜0.05).Conclusions The functional group modification affects not only the MWCNTs dispersion in medium,but also the cytotoxicity of the MWCNTs on PBMC.