OBJECTIVE: This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease (NAFLD) in children with obesity. METHODS: We conducted a two-step case-control study. Ninety-three participants were subjected to whole-exome sequencing (exploratory set). Differential genes identified in the small sample were validated in 1,022 participants using multiplex polymerase chain reaction and high-throughput sequencing (validation set). RESULTS: In the exploratory set, 14 genes from the NAFLD-associated pathways were identified. In the validation set, after adjusting for sex, age, and body mass index, ECI2 rs2326408 (dominant model: OR = 1.33, 95% CI: 1.02-1.72; additive model: OR = 1.22, 95% CI: 1.01-1.47), C6orf201 rs659305 (dominant model: OR = 1.30, 95% CI: 1.01-1.69; additive model: OR = 1.21, 95% CI: 1.00-1.45), CALML5 rs10904516 (pre-ad dominant model: OR = 1.36, 95% CI: 1.01-1.83; adjusted dominant model: OR = 1.40, 95% CI: 1.03-1.91; and pre-ad additive model: OR = 1.26, 95% CI: 1.04-1.66) polymorphisms were significantly associated with NAFLD in children with obesity ( P < 0.05). Interaction analysis revealed that the gene-gene interaction model of CALML5 rs10904516, COX11 rs17209882, and SCD5 rs3733228 was optional ( P < 0.05), demonstrating a negative interaction between the three genes. CONCLUSION In the Chinese population, the CALML5 rs10904516, C6orf201 rs659305, and ECI2 rs2326408 variants could be genetic markers for NAFLD susceptibility.
Humans ; Non-alcoholic Fatty Liver Disease/genetics* ; Child ; Male ; Female ; Genetic Predisposition to Disease ; Case-Control Studies ; Exome Sequencing ; Adolescent ; Polymorphism, Single Nucleotide ; Obesity/complications* ; Pediatric Obesity/complications* ; China

At present,the diagnostic criteria for acute severe autoimmune hepatitis(AS-AIH)include acute onset,consistency with the diagnostic criteria for autoimmune hepatitis(AIH),presence of jaundice,and international normalized ratio≥1.5 at the time of diagnosis,without evidence of hepatic encephalopathy or previous liver disease.As a special subtype of AIH,AS-AIH is characterized by acute onset and rapid disease progression,and thus early diagnosis is of vital importance.Glucocorticoid therapy should be given as early as possible after diagnosis to prevent the progression to acute liver failure and reduce the risk of liver transplantation.Management of AS-AIH patients is challenging,since patients often lack typical clinical features and histological manifestations of AIH at the time of diagnosis,and early assessment of glucocorticoid response and a treatment regimen with proper doses are important for improving the prognosis of patients.

Research on immune checkpoints such as programmed death protein-1(PD-1)and cytotoxic T lymphocyte antigen-4(CTLA-4)has provided new directions for tumor treatment.V-domain immunoglobulin suppressor of T-cell activation(VISTA)is an emerging immune checkpoint within the B7 family.Functioning as both a ligand and a receptor,VISTA is an inhibitory immune checkpoint molecule expressed in tumor cells,myeloid cells and T lymphocytes.It plays a crucial role in regulating autoimmunity,inflammatory response and tumor immunity.The non-redundant interactions between VISTA and other immune checkpoints,such as PD-1,may offer new therapeutic strategies and serve as a new target for overcoming immunotherapy resistance.This review summarizes the recent research progress on VISTA in hematological tumors,aiming to provide new insights into its application in the treatment of these malignancies.

Neonatal sepsis is a global health problem that seriously affects the body health and life safety of newborns. It has a higher incidence in preterm infants,especially for early-onset sepsis (EOS) within 72 hours of birth. The diagnosis of neonatal EOS requires a series of examinations,and early and accurate diagnosis can improve clinical outcomes and reduce antibiotic overuse in a timely manner. At present,the commonly used biomarkers and traditional blood culture methods for EOS diagnosis have certain shortcomings,so it is urgent to find new molecular diagnostic methods. This article summarizes and compares the early and novel diagnostic methods of neonatal EOS,in order to provide a reference for clinical practice.

Neonatal sepsis is a global health problem that seriously affects the body health and life safety of newborns. It has a higher incidence in preterm infants,especially for early-onset sepsis (EOS) within 72 hours of birth. The diagnosis of neonatal EOS requires a series of examinations,and early and accurate diagnosis can improve clinical outcomes and reduce antibiotic overuse in a timely manner. At present,the commonly used biomarkers and traditional blood culture methods for EOS diagnosis have certain shortcomings,so it is urgent to find new molecular diagnostic methods. This article summarizes and compares the early and novel diagnostic methods of neonatal EOS,in order to provide a reference for clinical practice.

At present,the diagnostic criteria for acute severe autoimmune hepatitis(AS-AIH)include acute onset,consistency with the diagnostic criteria for autoimmune hepatitis(AIH),presence of jaundice,and international normalized ratio≥1.5 at the time of diagnosis,without evidence of hepatic encephalopathy or previous liver disease.As a special subtype of AIH,AS-AIH is characterized by acute onset and rapid disease progression,and thus early diagnosis is of vital importance.Glucocorticoid therapy should be given as early as possible after diagnosis to prevent the progression to acute liver failure and reduce the risk of liver transplantation.Management of AS-AIH patients is challenging,since patients often lack typical clinical features and histological manifestations of AIH at the time of diagnosis,and early assessment of glucocorticoid response and a treatment regimen with proper doses are important for improving the prognosis of patients.

Objective To investigate the clinical efficacy of mitral valve repair technique in the treatment of rheumatic mitral valve lesions. Methods The clinical data of patients diagnosed with rheumatic mitral valve lesions and undergoing mitral valve repair under extracorporeal circulation in our department from 2021 to 2022 were retrospectively analyzed. Results A total of 100 patients were collected, including 78 females and 22 males with an average age of 52 years. There were no secondary open heart or death in the whole group. Extracorporeal circulation time was 136.3±33.1 min, aortic cross-clamping time was 107.6±27.5 min, ventilator use time was 12.9±5.9 h, ICU stay was 2.6±1.4 d, and vasoactive medication use was 823.4±584.4 mg. Before and after the surgery, there were statistical differences in the left ventricular end diastolic diameter, left atrial end systolic diameter, effective mitral valve orifice area, shortening rate of left ventricular short axis, mitral E-peak blood flow velocity, mean mitral transvalvular pressure difference, mitral pressure half-time, and cardiac function graded by New York Heart Association (P＜0.05). While there was no statistical difference in left ventricular ejection fraction or left ventricular end-diastolic volume (P>0.05). Conclusion Overall repair of rheumatic mitral valve lesions can significantly improve the cardiac function and hemodynamics of the patients, and is a good choice for patients with rheumatic mitral valve lesions.

Objective:To determine the external bremsstrahlung doses and doses to radiation workers in selective internal radiation therapy using 90Y resin microspheres ( 90Y-SIRT). Methods:Using an AT1123 X-ray and gamma radiation dosimeter, the ambient dose equivalent rates of bremsstrahlung at distances of 30 and 100 cm from the 90Y drug with and without lead shielding were measured. The attenuation factors of 90Y bremsstrahlung attributed to lead cans and lead aprons were calculated. Furthermore, the dose rates at corresponding sites were theoretically estimated using formula. Finally, the annual doses to radiation workers were estimated based on estimated and measured bremsstrahlung doses. Results:The measured dose rates of 90Y bremsstrahlung ranged from 0.19 to 0.26 μSv·h -1·GBq -1 at a distance of 1 m from the surface of the lead shield and from 1.00 to 1.60 μSv·h -1·GBq -1 at a distance of 1 m from the surface of the unshielded penicillin bottle, plexiglass transport container, injection delivery box, and the patient. The deviations between the calculated and measured bremsstrahlung doses were mostly close to or less than ±20%. Under conditions of 200 patients treated annually, 3 GBq for each bottle of 90Y resin microspheres, and a maximum dose of 2 GBq per patient, the estimated annual effective doses to nuclear medicine technologists, interventional injection physicians, and ward-round physicians were 2.24, 1.04 and 0.22 mSv, respectively, and the annual equivalent doses to their hands were 49.9, 25.5 and 2.06 mSv, respectively. The measured attenuation factors of 90Y bremsstrahlung attributed to the lead can of 6.4 mmPb equivalent and the lead apron of 0.5 mmPb equivalent ranged from 0.13 to 0.15 and from 0.45 to 0.50, respectively. Conclusions:Under normal working conditions, the annual effective doses to the radiation workers in 90Y-SIRT will not exceed 5 mSv. Wearing personal protective equipment (PPE) or covering the injection sites of patients using a lead apron during 90Y injection can reduce the doses to the workers by approximately 50%.

Objective To construct reference ranges of cardiac size and morphologic parameters in low-risk fetuses at 28-39 gestational weeks using two-dimensional speckle tracking technique.Methods A prospective collection of 453 low-risk singleton pregnancies with echocardiography at Obstetrics and Gynecology Hospital,Fudan University was used to assess the size(length,width,and area)and morphology(sphericity index,i.e.,the ratio of length to width)of the fetal four-chamber view and two ventricles using two-dimensional speckle tracking technique.Repeated inter-and intra-observer agreement of measurements was assessed using the intraclass correlation coefficients(ICCs).Statistical analysis of cardiac measurement parameters was performed to establish reference ranges of values for cardiac size and morphology in low-risk fetuses.Results The inter-and intra-group ICCs for reproducibility tests of fetal cardiac parameters measurements were 0.691 to 0.980.Fetal four-chamber view and ventricular size increased with gestational week(all P<0.001),the end-diastolic length of the left ventricle was larger than that of the right ventricle,and the end-diastolic diameter was smaller than that of the right ventricle(both P<0.001),while there was no significant difference in the end-diastolic area of the two ventricles(P= 0.050).The spherical index of four-chamber view did not correlate with gestational week(P=0.811).The sphericity index of the basal and intermediate segments of the left ventricle was greater than that of the right ventricle,and the sphericity index of the apical segment was less than that of the right ventricle,the differences were statistically significant(all P<0.01).Conclusion The two-dimensional speckle tracking technique for measuring fetal cardiac parameters has good reproducibility.The reference ranges for cardiac size and morphology in low-risk fetuses developed in this study will be useful for prenatal evaluation of cardiac remodeling.