An Inflammatory Bowel Diseases Integrated Resources Portal (IBDIRP).

IBD, including ulcerative colitis and Crohn's disease, is a chronic and debilitating gastrointestinal disorder that affects millions of people worldwide. Research on IBD has generated massive amounts of data, including literature, metagenomics, metabolomics, bioresources and databases. We aim to create an IBD Integrated Resources Portal (IBDIRP) that provides the most comprehensive resources for IBD. An integrated platform was developed that provides information on different aspects of IBD research resources, such as single-nucleotide polymorphisms (SNPs), genes, transcriptome, microbiota, metabolomics, single cells and other resources. Valuable and comprehensive IBD-related data were collected from PubMed, Google, GMrepo, gutMega, gutMDisorder, Single Cell Portal and other sources. Then, the data were systematically sorted, and these resources were manually curated. We systematically sorted and cataloged more than 320 unique risk SNPs associated with IBD in the SNP section. We presented over 289 IBD-related genes based on the database collection in the gene section. We also obtained 153 manually curated IBD transcriptomics data, including 12 388 samples, on the Gene Expression Omnibus database. The sorted IBD-related microbiota data from three primary microbiome databases (GMrepo, gutMega and gutMDisorder) were available for download. We selected 23 149 IBD-related taxonomic records from these databases. Additionally, we collected 24 IBD metabolomics studies with 2896 participants in the metabolomics section. We introduced two interactive single-cell data plug-in units that provided data visualization based on cells and genes. Finally, we listed 18 significant IBD web resources, such as the official European Crohn's and Colitis Organisation and International Organization for the Study of IBD websites, IBD scoring tools, IBD genetic and multi-omics resources, IBD biobanks and other useful research resources. The IBDIRP website is the first integrated resource for global IBD researchers. This portal will help researchers by providing comprehensive knowledge and enabling them to reinforce the multidimensional impression of IBD. The IBDIRP website is accessible via www.ibdirp.com Database URL: www.ibdirp.com.

Effect of treatment with direct-acting antiviral agents on the prognosis of extrahepatic diseases in patients with hepatitis C / 临床肝胆病杂志

The prognosis of patients with hepatitis C virus infection depends not only on liver lesions， but also on extrahepatic sequelae. Direct-acting antiviral agents （DAAs）， as the first-line drugs in the treatment of hepatitis C， have helped more and more patients achieve sustained virologic response and clinical cure， but its effect on the prognosis of extrahepatic diseases remains unclear. This article reviews the effect of DAAs treatment on the prognosis of extrahepatic diseases in patients with hepatitis C and points out that long-term follow-up monitoring is still required for patients with hepatitis C after cure.

Intratumoral delivery of a Tim-3 antibody-encoding oncolytic adenovirus engages an effective antitumor immune response in liver cancer.

BACKGROUND AND PURPOSE: The use of oncolytic viruses as a gene therapy vector is an area of active biomedical research, particularly in the context of cancer treatment. However, the actual therapeutic success of this approach to tumor elimination remains limited. As such, the present study was developed with the goal of simultaneously enhancing the antitumor efficacy of oncolytic viruses and the local immune response by combining the Ad-GD55 oncolytic adenovirus and an antibody specific for the TIM-3 immune checkpoint molecule (α-TIM-3). APPROACH AND KEY RESULTS: The results of Virus and cell-mediated cytotoxicity assay, qPCR, and Western immunoblotting showed that Ad-GD55-α-Tim-3 oncolytic adenovirus is capable of inducing α-TIM-3 expression within hepatoma cells upon infection, and Ad-GD55-α-TIM-3 exhibited inhibitory efficacy superior to that of Ad-GD55 when used to treat these tumor cells together with the induction of enhanced intracellular immunity. In vivo experiments revealed that Ad-GD55-α-TIM-3 administration was sufficient to inhibit tumor growth and engage in a more robust local immune response within the simulated tumor immune microenvironment. CONCLUSION AND IMPLICATIONS: These results highlighted the promising therapeutic effects of Ad-GD55-α-TIM-3 oncolytic adenovirus against HCC in vitro and in vivo. As such, this Ad-GD55-α-TIM-3 oncolytic adenovirus may represent a viable approach to the treatment of hepatocellular carcinoma.

Valuating diastolic function in football players with myocardial infarction and preserved ejection fraction heart failure: a clinical study using echocardiography

Objective:To determine the clinical efficacy of echocardiography in assessing diastolic function in football players who have experienced myocardial infarction with preserved ejection fraction heart failure. Methods:This study involved 54 football players with myocardial infarction and preserved ejection fraction heart failure, treated at our medical center from September 2020 to January 2021. They were compared to 50 healthy, physically active volunteers. Both groups underwent echocardiographic evaluations focusing on cardiac structure and function. The quality of life of the football players was assessed before and after the echocardiographic evaluations. Results:The observation group showed elevated serum levels of troponin I (cTnI) and N-terminal B-type natriuretic peptide (NT-proBNP) compared to the control group (P < 0.05). Echocardiographic findings indicated significant differences in diastolic function between groups, with the E/A ratio and E/E' ratio notably higher in the observation group. Post-treatment,the quality of life in the observation group improved significantly (P < 0.05). Conclusion:Echocardiography is a valuable clinical tool for evaluating diastolic function in football players who have suffered myocardial infarction with preserved ejection fraction heart failure, especially post-stenting. This study highlights the importance of specialized cardiac assessments in athletes to facilitate optimal recovery and athletic performance (AU)

The effectiveness of endoscopic ultrasonography findings to distinguish benign and malignant intraductal papillary mucinous neoplasm.

BACKGROUND AND AIMS: Accurate evaluation of intraductal papillary mucinous neoplasm (IPMN) is necessary to inform clinical decision-making. But it is still difficult to distinguish benign and malignant IPMN preoperatively. This study aims to evaluate the utility of EUS to predict the pathology of IPMN. METHODS: Patients with IPMN who underwent endoscopic ultrasound within 3 months before surgery were collected from six centers. Logistic regression model and random forest model were used to determine risk factors associated with malignant IPMN. In both models, 70% and 30% of patients were randomly assigned to the exploratory group and validation group, respectively. Sensitivity, specificity, and ROC were used in model assessment. RESULTS: Of the 115 patients, 56 (48.7%) had low-grade dysplasia (LGD), 25 (21.7%) had high-grade dysplasia (HGD), and 34 (29.6%) had invasive cancer (IC). Smoking history (OR = 6.95, 95%CI: 1.98-24.44, p = 0.002), lymphadenopathy (OR = 7.91, 95%CI: 1.60-39.07, p = 0.011), MPD > 7 mm (OR = 4.75, 95%CI: 1.56-14.47, p = 0.006) and mural nodules > 5 mm (OR = 8.79, 95%CI: 2.40-32.24, p = 0.001) were independent risk factors predicting malignant IPMN according to the logistic regression model. The sensitivity, specificity, and AUC were 0.895, 0.571, and 0.795 in the validation group. In the random forest model, the sensitivity, specificity, and AUC were 0.722, 0.823, and 0.773, respectively. In patients with mural nodules, random forest model could reach a sensitivity of 0.905 and a specificity of 0.900. CONCLUSIONS: Using random forest model based on EUS data is effective to differentiate benign and malignant IPMN in this cohort, especially in patients with mural nodules.

Prevalence and factors associated with hepatitis C among pregnant women in China: a cross-sectional study.

Pregnant women infected with HCV should be given attention due to their special physiological stage and the effect on offspring health. To examine the prevalence of HCV infection among pregnant women in part of China and explore relevant factors during pregnancy, a cross-sectional study was conducted in four maternal and children health care institutions (MCHC) in Guangdong, Hunan and Chongqing. Pregnant women who were delivered, induced or spontaneous abortion were included and relevant information was collected through the Hospital Information System. Results showed that the prevalence of HCV among pregnant women in four MCHCs was 0.11% (95% CI 0.09-0.13%). Age, occupations, regions, syphilis-infection, intrahepatic cholestasis of pregnancy (ICP), and placenta previa were significant factors (all P < 0.05). Age and syphilis-infection were positively correlated with HCV infection (Z = 3.41, P = 0.0006; OR = 18.16, 95% CI 9.34-35.29). HCV and HBV infection were risk factors of ICP (OR = 4.18, 95% CI 2.18-8.04; OR = 2.59, 95% CI 2.31-2.89). Our study indicates that the prevalence of HCV among pregnant women in the three provinces(city) was low compared with the general population in China. Older age and syphilis-infection increased the risk of HCV infection during pregnancy. HCV infection was a risk factor of ICP. Generally, we need keep a watchful eye on HCV infection and relevant factors mentioned above during pregnancy in clinic, especially those also infected with syphilis. HCV testing based on risk factors is recommended in antenatal care and obstetrics.

Exploration and practice of TEST teaching mode for general practice residency training in the community teaching base / 中华全科医师杂志

From November 2020 to November 2021, the TEST(Task-Experience- Supervise-Thinking) teaching model was adopted for general practice residency training in teaching clinic of Changfeng Health Service Center of Shanghai Putuo district. The satisfaction of mentors, residents and patients was surveyed with self-assessment questionnaire. The satisfaction scores of mentors, residents and patients were (79.89±0.40), (79.96±0.19) and (49.92±0.40). The adaption of model TEST in teaching clinic is more effective in training of clinical competency, communication ability, management ability and narrative ability for general practice residents. It is also beneficial for mentors to upgrade their teaching ability, as well as for patients to improve their experience and satisfaction for seeking medical service. It is worth popularizing in the community practice base of general resident training.

Skin imaging and noninvasive measurements for rosacea / 中华皮肤科杂志

Rosacea is a chronic inflammatory disease. In addition to subjective evaluation, some objective quantifiable indices are needed for the diagnosis and treatment of rosacea. Some skin imaging and noninvasive measurement tools have been applied to clinical practice, and can provide quantitative or semi-quantitative indices to assist the diagnosis and treatment of rosacea. This review summarizes relevant research progress to provide evidence for clinical standardized application.

Expert consensus on perioperative nursing management of nutrition for elderly patients with hip fractures (version 2023) / 中华创伤杂志

Hip fractures are among the most common fractures in the elderly, presenting to be a leading cause of disability and mortality. Surgical treatment is currently the main treatment method for hip fractures. The incidence of perioperative malnutrition is increased after hip fractures in the elderly due to the comorbidities, decreased basal metabolic rate, accelerated protein breakdown, weakened anabolism and surgical stress. However, malnutrition not only increases the incidence of postoperative complications, but also leads to increased mortality, indicating an important role of perioperative nursing management of nutrition for the elderly patients with hip fractures. At present, there still lacks scientific guidance and application standards on perioperative nursing management of nutrition for the elderly patients with hip fractures. Therefore, the Orthopedic Nursing Committee of Chinese Nursing Association and the Editorial Board of Chinese Journal of Trauma organized relevant experts to formulate the Expert consensus on perioperative nursing management of nutrition for elderly patients with hip fractures ( version 2023) according to evidence-based medical evidences and their clinical experiences. Fourteen recommendations were made from aspects of nutrition screening, nutrition assessment, nutrition diagnosis, nutrition intervention and nutrition monitoring to provide guidance for perioperative nursing management of nutrition in elderly patients with hip fractures.

Research progress in management strategies and fall risk assessment associated with motoric cognitive risk syndrome / 中华行为医学与脑科学杂志

Motoric cognitive risk syndrome (MCR), as a new type of "pre-dementia" , is a sensitive prediction indicators of falls.There may be multiple attribution pathways between MCR and falls, which provides a new health management strategy in the fall prevention for community-dwelling elderly.The paper reviews the current status of MCR-related falling, attribution characteristics, the methods of risk assessment and health management strategies for older adults with MCR, with the aim of providing a reference for promoting systematic research on falls among senior citizens with MCR and the practice of falls prevention in the community.

Clinical efficacy of pemetrexed disodium in maintenance treatment of advanced lung adenocarcinoma / 中国基层医药

Objective:To investigate the clinical efficacy and adverse reactions of pemetrexed disodium in the maintenance treatment of advanced lung adenocarcinoma after chemotherapy with pemetrexed disodium and platinum.Methods:The clinical data of 35 patients with stage Ⅳ lung adenocarcinoma who received chemotherapy with pemetrexed disodium and platinum and were well treated in Beijing Huairou Hospital from January 2013 to August 2020 were retrospectively analyzed. Maintenance therapy with pemetrexed disodium was initiated after the completion of combination chemotherapy until disease progression. The clinical characteristics, therapeutic effects, adverse reactions, progression-free survival, and overall survival of the 35 patients were evaluated.Results:Among the 35 patients, no patients had complete remission, 11 patients had partial remission, 22 patients had stable disease, and 2 patients had progressive disease. The objective remission rate was 31.4%, disease control rate was 94.3%, median progression-free survival was 9.53 months, median overall survival was 18.21 months, 1-year survival rate was 68.6%, 2-year survival rate was 31.4%, and 3-year survival rate was 11.4%. Gender, age, smoking, and the baseline characteristics of patients undergoing first-line pemetrexed disodium or second-line pemetrexed disodium treatment had no effects on progression-free survival (all P > 0.05). Positive gene mutation and receiving four or more chemotherapy cycles had a protective effect on progression-free survival (both P < 0.05). Chemotherapy-related adverse reactions mainly included myelosuppression, nausea, elevated transaminase, and nephrotoxicity, all of which were mild and were relieved after symptomatic treatment. Conclusion:Pemetrexed disodium is effective and safe in the maintenance treatment of advanced lung adenocarcinoma. The results of this study are scientific.

Analysis of clinical features of convulsion in rotavirus enteritis and the risk factors for multiple convulsion / 中国医师进修杂志

Objective:To analyze the clinical features of convulsion in rotavirus enteritis and the risk factors of multiple convulsion.Methods:The clinical data of children with rotavirus enteritis complicated with convulsion admitted to Xi'an Children's Hospital from January 2018 to March 2021 were retrospectively analyzed. According to whether there was fever during convulsion, they were divided into febrile seizure (FS) group and afebrile seizure (AFS) group.Results:A total of 274 children with rotavirus enteritis accompanied by convulsion were enrolled. The male to female ratio was 2.26∶1 in the FS group, while the male to female ratio was 1∶1.1 in the AFS group. The median number of vomiting in the AFS group was higher than that in the FS group: 4(2, 6) times per day vs. 2(1, 5) times per day, P<0.01. One convulsion was dominant in the FS group (80.68%), and more than two convulsions in the AFS group (62.90%). In the FS group, 60.23% of convulsions occurred on the first day of the course of disease, while in the AFS group,79.57% of convulsions mainly occurred on the second and third day of the course of disease. There was no statistical difference in duration of convulsion and overall course of disease between the two groups ( P>0.05). The median of hypersensitive C-reactive protein (CRP) and procalcitonin (PCT) in FS group were higher than those in AFS group: 5.52(1.45, 15.50) mg/L vs. 0.98(0.50, 3.17) mg/L, 0.17(0.07, 0.46) μg/L vs. 0.06(0.05, 0.15) μg/L. The median of alanine aminotransferase (ALT), aspartate aminotransferase (AST), uric acid (UA) and creatine kinase isoenzyme(CK-MB) in the AFS group were higher than those in the FS group: 28.00(21.00, 34.25) U/L vs. 25.00(19.00, 31.00) U/L, 53.00(45.00, 62.00) U/L vs. 50.00(40.00, 58.00) U/L, 390.00(296.00, 474.25) μmol/L vs. 331.00(250.00, 399.75) μmol/L, 67.00(49.75, 94.25) U/L vs. 59.50(37.25, 78.75) U/L, the differences were statistically significant ( P<0.05). The median age and the median of UA levels in ≥3 convulsions group were higher than those in ≤2 convulsions group: 21(18, 26) months vs. 18(15, 21) months, 411.00(296.50, 496.50) μmol/L vs. 364.00(278.00, 440.50) μmol/L, while the median of serum Na +, the mean value of serum Cl - in the ≥3 convulsions group were lower than those in the ≤2 convulsions group: 135.50(133.75, 137.25) mmol/L vs. 136.60(134.50, 138.20) mmol/L, (103.76 ± 3.26) mmol/L vs. (105.08 ± 4.26) mmol/L, the differences were statistically significant ( P<0.05). The age ≥18 months in children with rotavirus enteritis and convulsion ( OR = 3.359, P = 0.002, 95% CI 1.544 - 7.307) and the serum Cl - < 104.8 mmol/L ( OR = 2.17, P = 0.019, 95% CI 1.138 - 4.138) had an increased risk of convulsions ≥3 times during the course of rotavirus enteritis. Conclusions:Rotavirus enteritis FS mostly occurred on the first day of the course of disease, most of them had convulsion once, hs-CRP and PCT were relatively high. In AFS, convulsions were more than 2 times, and occurred on the 2nd and 3rd day of the course of disease. ALT, AST and UA were relatively high. Children with age ≥18 months and serum Cl - < 104.8 mmol/L had an increased risk of convulsions ≥3 times during the course of the disease.

Application progress of mobile health in nursing of patients with infertility / 中国实用护理杂志

This article firstly reviews the current application status of mobile health based on social networking media, mobile health applications, wearable devices in infertility patients′nursing. Then, this paper analyzes the application effects of mobile health in the five aspects of treatment process management, health education, medication management, lifestyle management and psychological care for infertility patients based on the literature. The existing problems are analyzed and prospected on this basis, in order to provide a reference for the application of mobile health to infertility patients′nursing in China.

Advances of n-3 polyunsaturated fatty acids in food allergy / 中华实用儿科临床杂志

Food allergy is a common allergic disease threatening the growth and development of infants and children.n-3 polyunsaturated fatty acids (PUFAs) are common nutrients in the diet, which have important structural functions and immunomodulatory effects.Their protective effect in food allergy has gradually become a potential research hotspot.This review highlights the function and immune regulation of PUFAs, the regulation of n-3 PUFAs on immunological indexes, the mechanism of food allergy, and the relationship between food allergy, and the impact of n-3 PUFAs on other allergic diseases.

Pharmacokinetic study of small molecule inhibitor SYHA1809 in Beagle dogs / 中国药房

OBJECTIVE To study the pharmacokinetics of small molecule inhibitor SYHA1809 in Beagle dogs. METHODS LC-MS/MS method was adopted. Beagle dogs were randomly divided into single intravenous administration group （3.75 mg/kg）， single low-dose intragastric administration group （3.75 mg/kg）， single medium-dose intragastric administration group （7.5 mg/kg）， single high-dose intragastric administration group （15 mg/kg） and multiple intragastric administration group （7.5 mg/kg， once a day， for 7 consecutive days）， with 6 dogs in each group， half male and half female. The plasma samples of Beagle dogs were collected in each group according to the set time point， and underwent LC-MS/MS quantitative analysis after preprocessing. The pharmacokinetic parameters were calculated by using Phoenix WinNonlin 8.0 software using obtained data. RESULTS After intravenous injection， CL of SYHA1809 in Beagle dogs was （2.70±0.48） mL/（min·kg）， steady-state distribution volume was 0.757 L/kg， and t1/2 was （3.35±1.36） h； after single intragastric administration of low-dose， medium-dose and high-dose of SYHA1809， average tmax was （0.53±0.02） h， and the blood drug concentration increased with the increase of dose； after single intragastric administration of 3.75 mg/kg SYHA1809， the absolute bioavailability was 83.5%； within the dose range of 3.75-15 mg/kg， the increase in cmax and AUC of SYHA1809 was positively correlated with the dose； after intragastric administration of 7.5 mg/kg SYHA1809 for 7 consecutive days， the pharmacokinetic parameters of SYHA1809 were comparable to those of a single intragastric administration of the same dose， with no statistically significant difference （P＞0.05）. CONCLUSIONS SYHA1809 is absorbed rapidly in Beagle dogs， shows the dose-dependent blood concentration， high bioavailability， no obvious accumulation after multiple intragastric administration， and good pharmacokinetic behavior.

Changes of regional cerebral oxygen saturation, S100β protein and neuron specific enolase and their relationship with perioperative neurocognitive disorders in patients undergoing total aortic arch replacement and trunk stenting / 西安交通大学学报(医学版)

【Objective】 To investigate the predictive value of regional cerebral oxygen saturation (rScO2) monitoring during total aortic arch replacement and stent trunk surgery for perioperative neurocognitive disorders (PND) and changes in plasma S100β protein and neuron-specific enolase (NSE) concentrations and their relationship with PND. 【Methods】 Sixty-five Stanford type A aortic dissection patients who planned to undergo total aortic arch replacement and trunk stenting were selected. Their rScO2 values were monitored throughout the operation and recorded after induction (T1), the beginning of CPB (T2), during deep hypothermic circulatory arrest (T3), rewarming to 36℃(T4), CPB stop for 1 hour (T5), and post-operation (T6). After induction (Ta), rewarming to 36℃ (Tb),1 h (Tc), 6 h (Td) and 24 h (Te) after cessation of cardiopulmonary bypass, central venous blood was collected from patients, and the concentrations of S100β protein and NSE in plasma were detected by ELISA. The patients were divided into PND group and non-PND group by the evaluation of MMSE scale at time of before operation, on the day of extubation, and 7 days after operation. 【Results】 The incidence of PND was 44.6%. The rScO2 value at T2 was significantly lower than that at T1 (P<0.05). The rScO2 value of PND group at T3 and T6 was significantly lower than that at T1 and non-PND group (P<0.05). The mean value of rScO2 and the minimum value of rScO2 in PND group were significantly lower than those in non-PND group, while rScO2 %max in PND group was significantly higher than that in non-PND group (P<0.05). The intraoperative critical value of rScO2 %max was >9.89%, the area under curve (AUC) was 0.658 (95% CI: 0.525-0.791, P<0.05), and sensitivity and specificity were 48.3% and 75.0%, respectively. The concentrations of S100β protein and NSE protein in PND group were significantly higher than those in non-PND group at Tc and Td (P<0.01). Compared with Ta, the concentration of S100β protein in PND group was significantly increased at Tc and Td (P<0.001), and the concentration of NSE protein was significantly increased at Tb-Te (P<0.01). CPB time was an independent risk factor for PND. 【Conclusion】 The occurrence of PND after total arch replacement and stenting may be related to the decrease of rScO2 and the increase of S100β protein and NSE protein. Intraoperative rScO2 %max >9.89% can be a potential predictor of PND.

Expert consensus on digital guided therapy for endodontic diseases / 国际口腔科学杂志·英文版

Digital guided therapy (DGT) has been advocated as a contemporary computer-aided technique for treating endodontic diseases in recent decades. The concept of DGT for endodontic diseases is categorized into static guided endodontics (SGE), necessitating a meticulously designed template, and dynamic guided endodontics (DGE), which utilizes an optical triangulation tracking system. Based on cone-beam computed tomography (CBCT) images superimposed with or without oral scan (OS) data, a virtual template is crafted through software and subsequently translated into a 3-dimensional (3D) printing for SGE, while the system guides the drilling path with a real-time navigation in DGE. DGT was reported to resolve a series of challenging endodontic cases, including teeth with pulp obliteration, teeth with anatomical abnormalities, teeth requiring retreatment, posterior teeth needing endodontic microsurgery, and tooth autotransplantation. Case reports and basic researches all demonstrate that DGT stand as a precise, time-saving, and minimally invasive approach in contrast to conventional freehand method. This expert consensus mainly introduces the case selection, general workflow, evaluation, and impact factor of DGT, which could provide an alternative working strategy in endodontic treatment.

Association of Perceived Stress With Depression Among Vaccinated Healthcare Workers During the SARS-CoV-2 Variant Outbreak: The Mediating Role of Compassion Fatigue

Objective@#Depression was common during coronavirus disease-2019 (COVID-19) pandemic, while the association of perceived stress with depression among vaccinated healthcare workers has not been investigated. This study aimed to address this issue. @*Methods@#We included a total of 898 fully vaccinated healthcare workers during the outbreak of severe acute respiratory syndrome coronavirus 2 Delta variant in Nanjing, 2021. Depression was ascertained by Patient Health Questionnaire-9, with a cut-off score of ≥5 indicative of mild-to-severe depression. Perceived stress, resilience, and compassion fatigue were assessed by Perceived Stress Scale-10, Resilience Scale-25, and Professional Quality of Life Scale version-5, respectively. Logistic regression analyses were used to estimate the odds ratio (OR) and 95% confidence interval (CI), along with subgroup and mediation analyses. @*Results@#The prevalence of mild-to-severe depression was 41.1% in vaccinated healthcare workers. The odd of mild-to-severe depression was increased with higher perceived stress. Compared with vaccinated healthcare workers with the lowest tertile of perceived stress, those with the highest tertile had increased odds of mild-to-severe depression by 120% (OR 2.20, 95% CI 1.46 to 3.31) after multivariable-adjustment. However, perceived stress was not associated with mild-to-severe depression in vaccinated healthcare workers with strong resilience, but was in those with weak resilience (pinteraction=0.004). Further analysis showed that compassion fatigue mediated the relationship between perceived stress and mild-to-severe depression, with a mediating effect of 49.7%. @*Conclusion@#Perceived stress was related to an increased odd of mild-to-severe depression in vaccinated healthcare workers during COVID-19 pandemic, and this relationship might be explained by compassion fatigue.

Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical manifestations and genetic characteristics of patients with congenital central hypothyroidism due to variants of IGSF1 gene.@*METHODS@#Clinical data, results of genetic testing, and follow-up of four patients admitted to Children's Hospital of Soochow University during 2017 to 2021 were retrospectively analyzed.@*RESULTS@#All of the four patients were males. Patient 1 had presented neonatal jaundice, patients 2 and 3 were admitted for growth retardation during childhood, and thyroid function test indicated slightly low free thyroxine (FT4), patient 4 was found to have reduced FT4 in the neonatal period. Genetic testing revealed that all of the four patients have harbored pathogenic variants of the IGSF1 gene, which were all inherited from their mothers. The thyroid functions in all patients were well controlled with oral levothyroxine and regular follow-up.@*CONCLUSION@#Pathogenic variants of the IGSF1 gene probably underlay the congenital central hypothyroidism with a variety of clinical manifestations, and genetic testing can facilitate the diagnosis at an early stage.

Genetic analysis of a child with Meier-Gorlin syndrome due to a variant of ORC6 gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the genetic characteristics of a child with Meier-Gorlin syndrome (MGS) due to a homozygous variant of the ORC6 gene.@*METHODS@#A child who was admitted to the Children's Hospital Affiliated to Soochow University on March 25, 2019 due to growth retardation was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a 8-year-and-3-month-old male, has featured short stature, small ears, bilateral cryptorchidism and patellar dysplasia. His parents were of first cousins. The child was found to harbor a homozygous c.712A>T (p.K238*) missense variant of the ORC6 gene, which may lead to premature termination of protein translation. Sanger sequencing confirmed that both of his parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1_Moderate+PM2_Supporting+PM3+PP3+PP4).@*CONCLUSION@#The homozygous c.712A>T (p.K238*) variant probably underlay the MGS in this child.