Objective:To investigate the clinical manifestations, gene mutation characteristics, imaging and video electroencephalogram (VEEG) characteristics of patients with dentatorubral-pallidoluysian atrophy (DRPLA).Methods:The clinical data of 9 patients with genetically diagnosed DRPLA in the Neurology Center, Beijing Tiantan Hospital, Capital Medical University from January 2018 to January 2023 were collected, and the clinical data of DRPLA patients reported in China were retrieved and summarized.Results:A total of 45 cases were included. The clinical characteristics were summarized as follows: (1) The male to female ratio of 45 patients was 1.00∶1.25, and the age of onset was (28.11±14.58) years. (2) The main clinical symptoms of juvenile type, early-onset adult type and late-onset adult type were analyzed, and the results showed that the frequency of seizures in juvenile type (16/17) was higher than that in early-onset adult type (8/21) and late-onset adult type (2/7), with statistically significant difference (χ 2=15.971, P<0.001). In addition, the frequency of cognitive impairment in juvenile type (16/17) was also higher than that in early-onset adult type (15/21) and late-onset adult type (2/7), also with statistically significant difference (χ 2=10.177, P=0.005). Cognitive impairment, language disorder and involuntary movement were common in early-onset adult patients, and about half of the patients had ataxia. Ataxia and language disorder were more common in late-onset adult patients, while seizures and cognitive impairment were rare. (3) In imaging, cerebellum and brainstem atrophy was the most common, followed by cortical atrophy and white matter lesions. (4) The number of trinucleotide (CAG) repeats was 53-79, and there was a significant negative correlation between the number of CAG repeats and the age of onset ( r=-0.765, P<0.001), that means the younger the age of onset, the higher the number of CAG repeats. (5) In terms of electrophysiology, 21 patients provided complete VEEG data, of which slowed activity (52%, 11/21) and generalized discharge (71%, 15/21) were more common, and focal discharge (33%, 7/21) was uncommon. Conclusions:DRPLA patients can present with epilepsy, cerebellar ataxia, and other clinical manifestations. Brainstem and cerebellar atrophy and white matter lesions can be relatively characteristic in imaging. In terms of electrophysiology, slowed activity and generalized discharge are more common. DRPLA patients are easy to be misdiagnosed in clinical practice and genetic confirmation helps confirm the diagnosis.

Objective:To investigate the clinical manifestations, gene mutation characteristics, imaging and video electroencephalogram (VEEG) characteristics of patients with dentatorubral-pallidoluysian atrophy (DRPLA).Methods:The clinical data of 9 patients with genetically diagnosed DRPLA in the Neurology Center, Beijing Tiantan Hospital, Capital Medical University from January 2018 to January 2023 were collected, and the clinical data of DRPLA patients reported in China were retrieved and summarized.Results:A total of 45 cases were included. The clinical characteristics were summarized as follows: (1) The male to female ratio of 45 patients was 1.00∶1.25, and the age of onset was (28.11±14.58) years. (2) The main clinical symptoms of juvenile type, early-onset adult type and late-onset adult type were analyzed, and the results showed that the frequency of seizures in juvenile type (16/17) was higher than that in early-onset adult type (8/21) and late-onset adult type (2/7), with statistically significant difference (χ 2=15.971, P<0.001). In addition, the frequency of cognitive impairment in juvenile type (16/17) was also higher than that in early-onset adult type (15/21) and late-onset adult type (2/7), also with statistically significant difference (χ 2=10.177, P=0.005). Cognitive impairment, language disorder and involuntary movement were common in early-onset adult patients, and about half of the patients had ataxia. Ataxia and language disorder were more common in late-onset adult patients, while seizures and cognitive impairment were rare. (3) In imaging, cerebellum and brainstem atrophy was the most common, followed by cortical atrophy and white matter lesions. (4) The number of trinucleotide (CAG) repeats was 53-79, and there was a significant negative correlation between the number of CAG repeats and the age of onset ( r=-0.765, P<0.001), that means the younger the age of onset, the higher the number of CAG repeats. (5) In terms of electrophysiology, 21 patients provided complete VEEG data, of which slowed activity (52%, 11/21) and generalized discharge (71%, 15/21) were more common, and focal discharge (33%, 7/21) was uncommon. Conclusions:DRPLA patients can present with epilepsy, cerebellar ataxia, and other clinical manifestations. Brainstem and cerebellar atrophy and white matter lesions can be relatively characteristic in imaging. In terms of electrophysiology, slowed activity and generalized discharge are more common. DRPLA patients are easy to be misdiagnosed in clinical practice and genetic confirmation helps confirm the diagnosis.

Background::Coronavirus disease 2019 (COVID-19) has potential risks for both clinically worsening pulmonary hypertension (PH) and increasing mortality. However, the data regarding the protective role of vaccination in this population are still lacking. This study aimed to assess the safety of approved vaccination for patients with PH.Methods::In this national prospective cohort study, patients diagnosed with PH (World Health Organization [WHO] groups 1 and 4) were enrolled from October 2021 to April 2022. The primary outcome was the composite of PH-related major adverse events. We used an inverse probability weighting (IPW) approach to control for possible confounding factors in the baseline characteristics of patients.Results::In total, 706 patients with PH participated in this study (mean age, 40.3 years; mean duration after diagnosis of PH, 8.2 years). All patients received standardized treatment for PH in accordance with guidelines for the diagnosis and treatment of PH in China. Among them, 278 patients did not receive vaccination, whereas 428 patients completed the vaccination series. None of the participants were infected with COVID-19 during our study period. Overall, 398 patients received inactivated severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine, whereas 30 received recombinant protein subunit vaccine. After adjusting for baseline covariates using the IPW approach, the odds of any adverse events due to PH in the vaccinated group did not statistically significantly increase (27/428 [6.3%] vs. 24/278 [8.6%], odds ratio = 0.72, P = 0.302). Approximately half of the vaccinated patients reported at least one post-vaccination side effects, most of which were mild, including pain at the injection site (159/428, 37.1%), fever (11/428, 2.6%), and fatigue (26/428, 6.1%). Conclusions::COVID-19 vaccination did not significantly augment the PH-related major adverse events for patients with WHO groups 1 and 4 PH, although there were some tolerable side effects. A large-scale randomized controlled trial is warranted to confirm this finding. The final approval of the COVID-19 vaccination for patients with PH as a public health strategy is promising.

Objective:To systematically evaluate the efficacy and safety of iGlarLixi in the treatment of type 2 diabetes, providing evidence-based support for rational clinical medication.Methods:A systematic review was conducted by retrieving articles from PubMed, Embase, Cochrane Library, Web of Science, Sinomed, CNKI, Wanfang, and VIP databases to collect randomized controlled trials comparing the efficacy and safety of iGlarLixi(intervention group) with placebo or other anti-hyperglycemic drugs(control group) in the treatment of type 2 diabetes. The search was conducted from the inception of the databases up to August 2022. Two reviewers independently screened the literature, extracted data, and assessed the risk of bias in the included studies. Meta-analysis was performed using RevMan 5.4 software. Results:A total of 11 studies with 6 392 patients were included in the meta-analysis. The results of the meta-analysis showed that in terms of efficacy, compared to insulin and GLP-1RAs, iGlarLixi demonstrated better reduction in patients′ HbA 1C levels(Insulin group WMD=-0.40, 95% CI -0.54--0.27, P<0.001; GLP-1RAs group WMD=-0.86, 95% CI -1.05--0.68, P<0.001), increased HbA 1C target rate(Insulin group OR=2.83, 95% CI 2.00-3.99, P<0.001; GLP-1RAs group OR=6.45, 95% CI 4.81-8.64, P<0.001), increased HbA 1C control rate without weight gain(Insulin group OR=3.00, 95% CI 2.43-3.71, P<0.001; GLP-1RAs group OR=2.67, 95% CI 1.76-4.06, P<0.001). Furthermore, iGlarLixi showed an advantage in weight reduction compared to the insulin group and demonstrated superior reduction in fasting plasma glucose compared to the GLP-1RAs group. In terms of safety, the incidence of hypoglycemic events in the iGlarLixi group was similar to that in the insulin group, but the incidence of gastrointestinal adverse events was higher than that in the insulin group. There was no difference in the incidence of gastrointestinal adverse events compared with GLP-1RAs, but the incidence of hypoglycemic events was higher in the iGlarLixi group. The incidence of serious adverse events was similar to that in the insulin and GLP-1RAs groups(Insulin group OR=0.94, 95% CI 0.71-1.23, P=0.640; GLP-1RAs group OR=0.97, 95% CI 0.61-1.52, P=0.880). Conclusion:iGlarLixi is superior to insulin but inferior to GLP-1RAs in reducing body weight, and the overall incidence of adverse events is not significantly different from that of insulin and GLP-1RAs, indicating that iGlarLixi is well tolerated and safe, and has a good clinical application prospect.

We report the diagnosis and treatment of two cases of fetal intestinal volvulus. Case 1 presented to Gansu Provincial Maternity and Child-care Hospital due to reduced fetal movements at 33 +4 weeks of gestation. Case 2 was referred to our hospital from a local hospital because of fetal bowel dilatation by ultrasound at 32 +5 weeks. Both cases were found to have fetal bowel dilatation with typical "whirlpool" or "coffee bean" signs on ultrasound after admission. After multidisciplinary consultation and discussion, an emergency cesarean section was performed, during which the two neonates underwent surgical operation and resection of necrotic bowel loops after confirming the diagnosis of volvulus and intestinal necrosis. Case 2 suffered from pulmonary artery thrombosis after the bowel surgery, and underwent pulmonary artery incision and embolectomy within 24 hours. Both newborns recovered well after the operation, whose growth parameters and nervous system development was normal for follow-up.

Objective:To investigate the pathological characteristics and the clinical significance of novel coronavirus (2019-nCoV)-infected pneumonia (termed by WHO as coronavirus disease 2019, COVID-19).Methods:Minimally invasive autopsies from lung, heart, kidney, spleen, bone marrow, liver, pancreas, stomach, intestine, thyroid and skin were performed on three patients died of novel coronavirus pneumonia in Chongqing, China. Hematoxylin and eosin staining (HE), transmission electron microcopy, and histochemical staining were performed to investigate the pathological changes of indicated organs or tissues. Immunohistochemical staining was conducted to evaluate the infiltration of immune cells as well as the expression of 2019-nCoV proteins. Real time PCR was carried out to detect the RNA of 2019-nCoV.Results:Various damages were observed in the alveolar structure, with minor serous exudation and fibrin exudation. Hyaline membrane formation was observed in some alveoli. The infiltrated immune cells in alveoli were majorly macrophages and monocytes. Moderate multinucleated giant cells, minimal lymphocytes, eosinophils and neutrophils were also observed. Most of infiltrated lymphocytes were CD4-positive T cells. Significant proliferation of type Ⅱ alveolar epithelia and focal desquamation of alveolar epithelia were also indicated. The blood vessels of alveolar septum were congested, edematous and widened, with modest infiltration of monocytes and lymphocytes. Hyaline thrombi were found in a minority of microvessels. Focal hemorrhage in lung tissue, organization of exudates in some alveolar cavities, and pulmonary interstitial fibrosis were observed. Part of the bronchial epithelia were exfoliated. Coronavirus particles in bronchial mucosal epithelia and type Ⅱ alveolar epithelia were observed under electron microscope. Immunohistochemical staining showed that part of the alveolar epithelia and macrophages were positive for 2019-nCoV antigen. Real time PCR analyses identified positive signals for 2019-nCoV nucleic acid. Decreased numbers of lymphocyte, cell degeneration and necrosis were observed in spleen. Furthermore, degeneration and necrosis of parenchymal cells, formation of hyaline thrombus in small vessels, and pathological changes of chronic diseases were observed in other organs and tissues, while no evidence of coronavirus infection was observed in these organs.Conclusions:The lungs from novel coronavirus pneumonia patients manifest significant pathological lesions, including the alveolar exudative inflammation and interstitial inflammation, alveolar epithelium proliferation and hyaline membrane formation. While the 2019-nCoV is mainly distributed in lung, the infection also involves in the damages of heart, vessels, liver, kidney and other organs. Further studies are warranted to investigate the mechanism underlying pathological changes of this disease.

OBJECTIVETo investigate the clinical value of Physiologic Ability and Surgical Stress (E-PASS) and modified Estimation of Physiologic Ability and Surgical Stress (mE-PASS) scoring systems in predicting the mortality and surgical risk of gastric cancer patients, and to analyze the relationship between the parameters of E-PASS and early postoperative complications.

METHODSClinical data of 778 gastric cancer patients who underwent elective surgical resection in Tianjin Medical University General Hospital from Jan. 2010 to Jan. 2014 were analyzed retrospectively. E-PASS and mE-PASS scoring systems were used to predict the mortality of gastric cancer patients, respectively. Univariate and unconditioned logistic regression analyses were performed to assess the relationships between nine parameters of E-PASS system and early postoperative complications.

RESULTSE-PASS and mE-PASS systems were used to predict the mortality in the death group and non-death group. The Z value was -5.067 and -4.492, respectively, showing a significant difference between the two groups (P<0.05). AUCs of mortality predicted by E-PASS and mE-PASS were 0.926 and 0.878 (P>0.05), and the prediction calibration of postoperative mortality showed statistically non-significant difference (P>0.05) between the E-PASS and mE-PASS prediction and actual mortality. Univariate analysis showed that age, operation time, severe heart disease, severe lung disease, diabetes mellitus, physical state index and ASA classification score are related to postoperative complications (P<0.05 for all). Unconditioned logistic regression analysis showed that severe lung disease, diabetes mellitus, ASA classification score and operation time are risk factors for early postoperative complications (P<0.05 for all).

CONCLUSIONSBoth mE-PASS and E-PASS scoring system have good consistency in the predicting postoperative mortality and actual mortality, and both are suitable for clinical application. Moreover, the mE-PASS scoring system is clinically more simple and convenient than E-PASS scoring system. Preoperative severe lung disease, diabetes mellitus, ASA classification score and operation time are independent factors affecting the early postoperative complications.

Age Factors ; Area Under Curve ; Diabetes Complications ; Elective Surgical Procedures ; Homeostasis ; Humans ; Lung Diseases ; complications ; Operative Time ; Postoperative Complications ; etiology ; mortality ; Postoperative Period ; Predictive Value of Tests ; Regression Analysis ; Retrospective Studies ; Risk Assessment ; methods ; Risk Factors ; Stomach Neoplasms ; mortality ; physiopathology ; surgery ; Stress, Physiological

Objective To investigate the clinical value of Physiologic Ability and Surgical Stress ( E?PASS) and modified Estimation of Physiologic Ability and Surgical Stress ( mE?PASS) scoring systems in predicting the mortality and surgical risk of gastric cancer patients, and to analyze the relationship between the parameters of E?PASS and early postoperative complications. Methods Clinical data of 778 gastric cancer patients who underwent elective surgical resection in Tianjin Medical University General Hospital from Jan. 2010 to Jan. 2014 were analyzed retrospectively. E?PASS and mE?PASS scoring systems were used to predict the mortality of gastric cancer patients, respectively. Univariate and unconditioned logistic regression analyses were performed to assess the relationships between nine parameters of E?PASS system and early postoperative complications. Results E?PASS and mE?PASS systems were used to predict the mortality in the death group and non?death group. The Z value was -5. 067 and -4. 492, respectively, showing a significant difference between the two groups (P<0.05). AUCs of mortality predicted by E?PASS and mE?PASS were 0.926 and 0.878 (P>0.05), and the prediction calibration of postoperative mortality showed statistically non?significant difference (P>0.05) between the E?PASS and mE?PASS prediction and actual mortality. Univariate analysis showed that age, operation time, severe heart disease, severe lung disease, diabetes mellitus, physical state index and ASA classification score are related to postoperative complications
( P<0. 05 for all ) . Unconditioned logistic regression analysis showed that severe lung disease, diabetes mellitus, ASA classification score and operation time are risk factors for early postoperative complications ( P<0.05 for all) . Conclusions Both mE?PASS and E?PASS scoring system have good consistency in the predicting postoperative mortality and actual mortality, and both are suitable for clinical application. Moreover, the mE?PASS scoring system is clinically more simple and convenient than E?PASS scoring system. Preoperative severe lung disease, diabetes mellitus, ASA classification score and operation time are independent factors affecting the early postoperative complications.

Objective To investigate the clinical value of Physiologic Ability and Surgical Stress ( E?PASS) and modified Estimation of Physiologic Ability and Surgical Stress ( mE?PASS) scoring systems in predicting the mortality and surgical risk of gastric cancer patients, and to analyze the relationship between the parameters of E?PASS and early postoperative complications. Methods Clinical data of 778 gastric cancer patients who underwent elective surgical resection in Tianjin Medical University General Hospital from Jan. 2010 to Jan. 2014 were analyzed retrospectively. E?PASS and mE?PASS scoring systems were used to predict the mortality of gastric cancer patients, respectively. Univariate and unconditioned logistic regression analyses were performed to assess the relationships between nine parameters of E?PASS system and early postoperative complications. Results E?PASS and mE?PASS systems were used to predict the mortality in the death group and non?death group. The Z value was -5. 067 and -4. 492, respectively, showing a significant difference between the two groups (P<0.05). AUCs of mortality predicted by E?PASS and mE?PASS were 0.926 and 0.878 (P>0.05), and the prediction calibration of postoperative mortality showed statistically non?significant difference (P>0.05) between the E?PASS and mE?PASS prediction and actual mortality. Univariate analysis showed that age, operation time, severe heart disease, severe lung disease, diabetes mellitus, physical state index and ASA classification score are related to postoperative complications
( P<0. 05 for all ) . Unconditioned logistic regression analysis showed that severe lung disease, diabetes mellitus, ASA classification score and operation time are risk factors for early postoperative complications ( P<0.05 for all) . Conclusions Both mE?PASS and E?PASS scoring system have good consistency in the predicting postoperative mortality and actual mortality, and both are suitable for clinical application. Moreover, the mE?PASS scoring system is clinically more simple and convenient than E?PASS scoring system. Preoperative severe lung disease, diabetes mellitus, ASA classification score and operation time are independent factors affecting the early postoperative complications.

Objective To clarify the mechanism of immediate early response gene 5 (ler5)transcription induced by radiation. Methods Deletant construction, site-specific mutagenesis,electrophoretic mobility shift assay (EMSA) and chromatin immunoprecipitation (ChIP) were used to forecast the promoter region,binding sites and transcription factors of Ier5 gene in HeLa cells.Results The promoter region of Ier5 gene might be in the region of Ier5 -8 deletant ( -408 - -238 bp).The Ier5 gene had two transcription factors of GCF and NFI,and GCF had two binding sites located in the region of - 388 - - 382 bp and - 274 - - 270 bp of Ier5 promoter.The binding site of NFI was located in - 362 --357 bp of Ier5 promoter. GCF could inhibit the expression of Ier5 gene and this inhibition was diminished when the radiation dose increased. In contrast, NFI increased the expression of Ier5.Conclusions The most possible region of Ier5 promoter is from -408 to - 238 bp which has two binding sites for the radiosensitivity transcription factors of GCF and NFI that could negatively and positively regulate the expression of Ier5 respectively.