Objective To investigate the clinical features and genetic characteristics of patients with late-onset Pompe disease(LOPD).Methods A total of 13 patients diagnosed with LOPD in the First Affilia-ted Hospital of Zhejiang University School of Medicine from September 2020 to December 2023 were selected,and all patients were subjected to clinical investigation,GAA activity detection and GAA gene testing.Results Among the 13 patients,7 were males and 6 were females;5 were family patients and 8 were sporadic patients;and the median age of onset was 17 years(8-52 years),the median age of presentation was 24 years(10-52 years),and the median age of diagnosis was 31 years(14-58 years).In terms of the first symptoms,10 pa-tients presented with limb weakness and 3 patients presented with dyspnea.The average serum creatine kinase level was 552 U/L(55-1084 U/L),and the serum creatine kinase level was normal in one patient.All pa-tients had scoliosis and different degrees of restrictive ventilatory dysfunction.Neuroelectrophysiological exami-nations of 9 patients showed myogenic damage,and 8 of them had muscle tonic discharge.The mean value of GAA activity was 0.3 μmol/(L·h)[0.17-0.5 μmol/(L·h)].A total of 13 mutations were detected in GAA gene,and the most common mutation was c.2238G＞C(p.W746C).There were five new variant sites:c.543del(p.F181Lfs*40),c.839_840insCC(p.R281Pfs*34),c.1800_1823del(p.S601_R608del),c.2296T＞C(p.Y766H)and c.995C＞A(p.S332*).Conclusions LOPD is a rare disease that tends to delay diagnosis.Proximal limb weakness,decreased respiratory function,mild-to-moderate elevation of creatine kinase,scoliosis,and clinical inferior tonic discharge on electromyography are high-risk images of LOPD.c.2238G＞C(p.W746C)is a hotspot mutation,and the discovery of five new mutations enriches the GAA gene mutations lineage.

Background/Aims: The discrepancies between the diagnosis of preoperative endoscopic forceps biopsy (EFB) and endoscopic submucosal dissection (ESD) in patients with early gastric neoplasm (EGN) exist objectively. Among them, pathological upgrading directly influences the accuracy and appropriateness of clinical decisions. The aims of this study were to investigate the risk factors for the discrepancies, with a particular focus on pathological upgrading and to establish a prediction model for estimating the risk of pathological upgrading after EFB. Methods: We retrospectively collected the records of 978 patients who underwent ESD from December 1, 2017 to July 31, 2021 and who had a final histopathology determination of EGN. A nomogram to predict the risk of pathological upgrading was constructed after analyzing subgroup differences among the 901 lesions enrolled. Results: The ratio of pathological upgrading was 510 of 953 (53.5%). Clinical, laboratorial and endoscopic characteristics were analyzed using univariable and binary multivariable logistic regression analyses. A nomogram was constructed by including age, history of chronic atrophic gastritis, symptoms of digestive system, blood high density lipoprotein concentration, macroscopic type, pathological diagnosis of EFB, uneven surface, remarkable redness, and lesion size. The C-statistics were 0.804 (95% confidence interval, 0.774 to 0.834) and 0.748 (95% confidence interval, 0.664 to 0.832) in the training and validation set, respectively. We also built an online webserver based on the proposed nomogram for convenient clinical use. Conclusions The clinical value of identifying the preoperative diagnosis of EGN lesions is limited when using EFB separately. We have developed a nomogram that can predict the probability of pathological upgrading with good calibration and discrimination value.

Coronary Angiography ; Coronary Disease ; Humans ; Liver ; Non-alcoholic Fatty Liver Disease/complications*

BACKGROUND: Coronavirus disease 2019 (COVID-19), which is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has rapidly spread throughout the world. In this study, we aimed to identify the risk factors for severe COVID-19 to improve treatment guidelines. METHODS: A multicenter, cross-sectional study was conducted on 313 patients hospitalized with COVID-19. Patients were classified into two groups based on disease severity (nonsevere and severe) according to initial clinical presentation. Laboratory test results and epidemiological and clinical characteristics were analyzed using descriptive statistics. Univariate and multivariate logistic regression models were used to detect potential risk factors associated with severe COVID-19. RESULTS: A total of 289 patients (197 nonsevere and 92 severe cases) with a median age of 45.0 (33.0, 61.0) years were included in this study, and 53.3% (154/289) were male. Fever (192/286, 67.1%) and cough (170/289, 58.8%) were commonly observed, followed by sore throat (49/289, 17.0%). Multivariate logistic regression analysis suggested that patients who were aged ≥ 65 years (OR: 2.725, 95% confidence interval [CI]: 1.317-5.636; P = 0.007), were male (OR: 1.878, 95% CI: 1.002-3.520, P = 0.049), had comorbid diabetes (OR: 3.314, 95% CI: 1.126-9.758, P = 0.030), cough (OR: 3.427, 95% CI: 1.752-6.706, P < 0.001), and/or diarrhea (OR: 2.629, 95% CI: 1.109-6.231, P = 0.028) on admission had a higher risk of severe disease. Moreover, stratification analysis indicated that male patients with diabetes were more likely to have severe COVID-19 (71.4% vs. 28.6%, χ2 = 8.183, P = 0.004). CONCLUSIONS The clinical characteristics of those with severe and nonsevere COVID-19 were significantly different. The elderly, male patients with COVID-19, diabetes, and presenting with cough and/or diarrhea on admission may require close monitoring to prevent deterioration.
Adult ; COVID-19/pathology* ; China/epidemiology* ; Comorbidity ; Cough ; Cross-Sectional Studies ; Diarrhea ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Risk Factors

OBJECTIVE: To analyze the clinical features and genetic variants in a 13-month-old child with Bloom syndrome. METHODS: Clinical data of the child was collected. Genetic variants were detected by high-throughput sequencing and Sanger sequencing. RESULTS: The child was born at full term but was small for gestational age. His clinical features included loss of appetite, severe growth retardation, microcephaly, and small mandible. Genetic testing found that he had carried compound heterozygous c.1068+3A>C and c.1069-1G>C variants of the BLM gene, both of which were unreported previously. CONCLUSION Bloom syndrome is mainly characterized by severe growth retardation in infancy. The novel variants have expanded the variant spectrum of the BLM gene.

OBJECTIVE: To provide reference of the ideal entry point for antegrade femoral nailing according to analysis correlation between highest point of greater trochanter and the middle line of the medullary cavity in adults by three-dimensional images. METHODS: From January 2016 to January 2017, 107 adults who underwent continuous computed tomography (CT) scans were ultimately enrolled, including 64 males and 43 females with an average age of (51.7±16.4) years old;54 patients on the left side and 53 patients on the right side. Three-dimensional images were built by using image-processing software (Volume Viewer) to reconstruct geometry of cortex and medullary canal. All people weregrouped according to different femoral greater trochanter morphology, such as anterior apex (AA), posterior apex (PA), middle apex (MA) and none apex (NA). Forwards inclination was adjusted to apparent neck shaft angle (ANSA) and true neck shaft angle (TNSA) on the coronal and saggittal view, recorded as C-ANSA, C-TNSA, S-ANSA, S-TNSA respectively, vertical distance from the middle line of femur medullary cavity to the highest point of greater trochanter of femur on the 4 positions were measured and performed statistical analysis, multiple linear regression was applied to analysis relationship between clinical data and VD value. RESULTS: (1)Comparison of VD value among 4 groups on the 4 positions, there were no difference in VD value between AA and MA groups on the S-ANSA position;and no differences in VD value among AA, MA and NA groups on the C-ANSA and C-TNSA position. (2)There were differences in VD value among AA, MA and NA groups on the sagittal plane;while had difference in VD value between PA and NA group on the coronal plane. (3)Prediction equation of VD value on S-ANSA and S-TNSA position by multiple linear regression showed R=0.343, F=3.409, =0.012 on the S-ANSA position;R=0.317, F=2.846, =0.028 on the S-TNSA position; neck shaft angle and sex were risk factors of VD value on the sagittal plane, while no difference in VD value on the coronal position. CONCLUSION (1)When indentify insertion point in adult femoral nail according to the highest point of greater trochanter as anatomic landmark, the morphology of greater trochanter of femur should be distinguished to certain observation position, then evaluate migration before and after on the sagttial plane and lateral offset on the coronal plane. (2)Migration before and after on the sagttial plane is increase with increase of neck shaft angle, and the degree of migration of female before and after is less than that of male.
Adult ; Aged ; Female ; Femur ; Fracture Fixation, Intramedullary ; Humans ; Image Processing, Computer-Assisted ; Imaging, Three-Dimensional ; Male ; Middle Aged ; Tomography, X-Ray Computed

OBJECTIVE: To analyze the clinical features and prognosis in patients with primary Sjögren's syndrome (pSS) and autoimmune liver diseases (ALD). METHODS: A retrospective analysis of clinical manifestation and prognosis was performed in patients with ALD or without ALD during the three years (February 2014 to December 2017). RESULTS: Totally, 203 patients with pSS were included in this study, 68 patients had ALD (31 patients with autoimmune hepatitis, 37 patients with primary biliary cholangitis), while 135 patients did not have ALD. There were no differences between the two groups regarding age, gender, clinical manifestations, such as dry mouth, dry eyes, pain, fatigue, lymphadenopathy, glandular swelling, cutaneous involvement, lung involvement, and renal involvement, and the incidence rate of other autoimmune diseases, such as autoimmune thyroid disease, rheumatoid arthritis, and vasculitis. There were also no differences in the titer of antinuclear antibody (ANA), the positive rates of anti-Sjögren's syndrome A antibody (SSA), SSA52, and anti-Sjögren's syndrome B antibody (SSB), and at the levels of erythrocyte sedimentation rate and C-reactive protein between the two groups. Most importantly, the pSS patients with ALD had a shorter disease course, a higher positive rate of anti-mitochondrial M2 antibody (AMA-M2) and anti-centromere antibody, a higher level of IgG and IgM, a lower level of complement 3, and a decreased number of blood cells. They also had a higher level of liver related serum index, such as alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, alkaline phosphatase and total bilirubin, direct bilirubin, indirect bilirubin, a higher incidence rate of liver cirrhosis, an increased death incident (the mortality was 13.24% in the pSS patients with ALD, while 2.96% in the controls, P=0.013), and a worse prognosis. Binary Logistic regression analysis revealed that liver cirrhosis, the EULAR Sjögren's syndrome disease activity index (ESSDAI) scores and the level of total bilirubin were the prognostic factors of mortality in the pSS patients with ALD. The survival curve was estimated by the Kaplan-Meier method. It demonstrated that the pSS patients with ALD had a lower survival rate when compared with the controls. CONCLUSION The patients with both pSS and ALD will suffer from a more severe disease and a higher death incident. We should pay more attention to these patients and provide a better symptomatic treatment for them during clinical practice.
Hepatitis, Autoimmune/epidemiology* ; Humans ; Liver Cirrhosis, Biliary ; Prognosis ; Retrospective Studies ; Sjogren's Syndrome/epidemiology*

Objective To explore the method of real-time identification and early warning of drug-resistant bacteria through information technology, timely obtain information about drug-resistant bacteria in clinic.Methods Interface of Hospital Information System (HIS), Laboratory Information Management System (LIS) and healthcare-associated infection (HAI) surveillance system were reconstructed in 2015, HL7 was used as interface framework to design standard, LIS was as baseline data source and HIS as patient information database, multi-information exchange was implemented on the commonly used interface, identification and early warning of detected drug-resistant bacteria was conducted, identification of drug-resistant bacteria before and after informationization was compared.Results Through the information construction, the information interface showed that the rules of drug-resistant bacteria determination can be changed at will, data results were more accurate and timely.The judgment time of manual review was reduced from 30 minutes to 2 minutes every day, information of drug-resistant bacteria can be obtained timely and conveniently on any internal network computer by clinical staff.After timely identification and intervention of drug-resistant bacteria, 284, 289 and 309 strains of drug-resistant bacteria were detected in key departments of HAI control in 2015-2017, drug-resistant bacteria per 1 000 bed-day were 9.23‰ (284/30 773), 8.91‰ (289/32 429), and 8.34‰ (309/37 031) respectively, with a slight decrease.Conclusion Through information technology, drug-resistant bacteria can be found timely, and new drug-resistant bacteria can be identified and intervened in time, so as to effectively reduce the infection rate of drug-resistant bacteria.

Osteoarthritis(OA) is a degenerative joint disease characterized by cartilage degeneration, which tremendously affects life quality of the elderly population, and significantly increases the economic cost of public health and welfare. As a member of adult stem cells, mesenchymal stem cells(MSCs) exhibit specific feature. Over the past few decades, MSCs have become a major focus of interest in the treatment of OA. With the development of cell and tissue engineering, MSCs originating from different tissues such as bone marrow, adipose tissue and synovial tissue has been applied in the repairment of cartilage and joints. Intra-articular injection of MSCs has shown to facilitate the repair of articular cartilage, which significantly alleviates pain and improves joint movement of OA patients. While MSCs in treatment of OA has shown promising results, additional clinical trials and real-world studies are required for further evaluation and optimization of this strategy.