The clinical data of a pediatric patient with Kleefstra syndrome 2 (KLEFS2) diagnosed at the Department of Gastroenterology and Nutrition, Changzhou Children′s Hospital Affiliated to Nantong University in May 2024 were retrospectively analyzed.The patient was a 2-year-and-6-month-old male who had delayed language-motor development, feeding difficulties, left cryptorchidism, and atrial septal defect.He could not say " papa/mama" at the age of 2 years and 6 months, with poor response to his name, and mainly consumed semi-liquid and liquid foods.Physical examination showed his weight was 11 kg (-1.64 SD) and his height was 82 cm (-2.94 SD).He had thick eyebrows, low nasal bridge, abundant hair on the back and the simian line on the palms of both hands.Whole exome sequencing revealed that the patient had a heterozygous variant in the histone-lysine N-methyltransferase 2C ( KMT2C) gene [c.5742(exon36)_5743(exon36)dup/p.(S1915Ffs*25)(NM_170606)].It could be the pathogenic variation according to the American College of Medical Genetics and Genomics variant interpretation guidelines.Based on the patient′s clinical characteristics and molecular genetic testing results, KLEFS2 was diagnosed.Sanger sequencing showed that the patient′s father has a wild-type KMT2C gene, and his mother carries this mutation in the KMT2C gene, but she only exhibits delayed physical development and short stature.KLEFS2 is a rare autosomal dominant genetic disease, and there is heterogeneity in its genetic variation and clinical phenotype.A total of 19 cases of KLEFS2 have been reported globally.This article reports new clinical manifestations of KLEFS2, including simian line and excessive hair growth.c.5742(exon36)_5743(exon36)dup is a newly found KMT2C mutation that enriches the KMT2C variation spectrum and expands the phenotypic spectrum of KLEFS2.

AIM:To investigate the influencing factors of dry eye in elderly people aged over 60 years, and to construct a risk nomogram prediction model, so as to provide a reference for the identification of high-risk individuals and the development of preventive strategies.METHODS:A convenience sampling method was used to select 301 people aged over 60 years who attended the ophthalmology outpatient clinic or were hospitalized at the Second Affiliated Hospital of Guangzhou Medical University between July 2023 and December 2023. They were divided into a dry eye group(n=173)and a non-dry eye group(n=128)based on the presence or absence of dry eye. Data from the two groups were compared and a risk prediction model was constructed.RESULTS:Gender, hypertension, meibomian gland dysfunction, frequent use of eye drops, frequent use of electronic products, and frequent exposure to dry environments were significant influencing factors for the occurrence of dry eye in people aged over 60 years(all P<0.05). The nomogram prediction model demonstrated excellent discrimination(AUC=0.86, 95% CI: 0.81-0.90). The calibration curve showed good fit with the ideal curve, indicating high predictive accuracy. The Hosmer-Lemeshow test yielded a P-value of 0.424. The sensitivity was 73% and the specificity was 86%.CONCLUSION:The nomogram predictive model for the risk of dry eye in elderly people aged over 60 years constructed in this study showed good discrimination and calibration. It can serve as an intuitive and effective clinical risk assessment tool, providing a basis for the early identification of high-risk populations and the development of individualized intervention strategies.

The clinical data of a pediatric patient with Kleefstra syndrome 2 (KLEFS2) diagnosed at the Department of Gastroenterology and Nutrition, Changzhou Children′s Hospital Affiliated to Nantong University in May 2024 were retrospectively analyzed.The patient was a 2-year-and-6-month-old male who had delayed language-motor development, feeding difficulties, left cryptorchidism, and atrial septal defect.He could not say " papa/mama" at the age of 2 years and 6 months, with poor response to his name, and mainly consumed semi-liquid and liquid foods.Physical examination showed his weight was 11 kg (-1.64 SD) and his height was 82 cm (-2.94 SD).He had thick eyebrows, low nasal bridge, abundant hair on the back and the simian line on the palms of both hands.Whole exome sequencing revealed that the patient had a heterozygous variant in the histone-lysine N-methyltransferase 2C ( KMT2C) gene [c.5742(exon36)_5743(exon36)dup/p.(S1915Ffs*25)(NM_170606)].It could be the pathogenic variation according to the American College of Medical Genetics and Genomics variant interpretation guidelines.Based on the patient′s clinical characteristics and molecular genetic testing results, KLEFS2 was diagnosed.Sanger sequencing showed that the patient′s father has a wild-type KMT2C gene, and his mother carries this mutation in the KMT2C gene, but she only exhibits delayed physical development and short stature.KLEFS2 is a rare autosomal dominant genetic disease, and there is heterogeneity in its genetic variation and clinical phenotype.A total of 19 cases of KLEFS2 have been reported globally.This article reports new clinical manifestations of KLEFS2, including simian line and excessive hair growth.c.5742(exon36)_5743(exon36)dup is a newly found KMT2C mutation that enriches the KMT2C variation spectrum and expands the phenotypic spectrum of KLEFS2.

Bioactive compounds derived from herbal medicinal plants modulate various therapeutic targets and signaling pathways associated with cardiovascular diseases (CVDs), the world's primary cause of death. Ginkgo biloba, a well-known traditional Chinese medicine with notable cardiovascular actions, has been used as a cardio- and cerebrovascular therapeutic drug and nutraceutical in Asian countries for centuries. Preclinical studies have shown that ginkgolide B, a bioactive component in Ginkgo biloba, can ameliorate atherosclerosis in cultured vascular cells and disease models. Of clinical relevance, several clinical trials are ongoing or being completed to examine the efficacy and safety of ginkgolide B-related drug preparations in the prevention of cerebrovascular diseases, such as ischemia stroke. Here, we present a comprehensive review of the pharmacological activities, pharmacokinetic characteristics, and mechanisms of action of ginkgolide B in atherosclerosis prevention and therapy. We highlight new molecular targets of ginkgolide B, including nicotinamide adenine dinucleotide phosphate oxidases (NADPH oxidase), lectin-like oxidized LDL receptor-1 (LOX-1), sirtuin 1 (SIRT1), platelet-activating factor (PAF), proprotein convertase subtilisin/kexin type 9 (PCSK9) and others. Finally, we provide an overview and discussion of the therapeutic potential of ginkgolide B and highlight the future perspective of developing ginkgolide B as an effective therapeutic agent for treating atherosclerosis.

Objective:To examine the burden and trends of acute viral hepatitis in Guangdong Province from 1990 to 2019, and provide reference evidences for hepatitis prevention and control in the province.Methods:Data on acute viral hepatitis (hepatitis A, B, C, and E) in Guangdong from 1990 to 2019 were extracted from the Global Burden of Disease Study 2019 database. The incidence, prevalence, mortality, and disability-adjusted life years (DALY) data were analyzed by age and gender, and the estimated annual percentage change (EAPC) was calculated to describe the changing trends in disease burden.Results:From 1999 to 2019, the standardized incidence, prevalence, mortality, and DALY of acute viral hepatitis in Guangdong were higher than the national averages. In 2019, 51.43% (2 245 087/4 365 221) of acute viral hepatitis cases in Guangdong Province were mainly attributed to hepatitis B, and 77.18% (106/138) of deaths were due to acute hepatitis B. In different age groups, except for acute hepatitis B, which was more common in adults, the incidence rates of other types of viral hepatitis such as hepatitis A, B, and E showed an overall decreasing trend with age. The mortality rates of different types of acute viral hepatitis, except for the <5 age group, increased with age. The overall incidence and mortality rates of acute viral hepatitis were higher in men than in women.Conclusions:The overall burden of acute viral hepatitis in Guangdong declined in 2019, but remained higher than the national level. Further efforts are needed to strengthen hepatitis prevention and screening in different population in Guangdong Province, especially in children and the elderly.

Objective:To investigate the species and distribution of mosquito-borne arboviruses in the southeastern part of Gansu province.Methods:In 2023, mosquitoes were collected using ultraviolet lights in Longnan and Tianshui regions of Gansu province. After classification by morphology, about 50 are only 1 batch. RT-qPCR was used to detect the RNA of Japanese encephalitis virus (JEV), Banna virus (BAV), Getah virus (GETV), Culex flavivirus (CxFV) and Tahyna virus (TAHV). The genomes of the positive samples were sequenced and the genetic evolution of the virus genomes were analyzed by bioinformatics software.Results:In total, there were 8 176 mosquitoes from 4 genera and 9 species collected from Longnan and Tianshui from June to August 2023. Culex tritaeniorhynchus was the most common species with 55.80% (4 562/8 176) of the total mosquitoes collected, followed by 16.43% (1 343/8 176) of Culex pipiens pallens. A total of 263 batches of samples were obtained, and the nucleic acid test showed that 1 batch was positive for JEV, 2 batches were positive for BAV, 3 batches were positive for GETV and 25 batches were positive for CxFV. Conclusions:Culex tritaeniorhynchus was the dominant mosquito species in the southeastern part of Gansu province, and local mosquitoes carried a variety of arboviruses.

Objective:To investigate the prognostic value of albumin (ALB), aspartate aminotransferase/alanine aminotransferase ratio (AST/ALT) in patients with acute liver failure (ALF) in hyperacute phase of sepsis which provided the basis for clinical evaluation and prognostic judgment and corresponding treatment options.Methods:A multicenter retrospective cohort study was conducted. Patients with ALF in hyperacute phase of sepsis admitted to Zhoupu Hospital Affiliated to Shanghai Health College, Shanghai Pudong New Area People's Hospital, and Shanghai Oriental Hospital from January 2019 to February 2024 were enrolled. General data such as gender and age of the patients were collected. Lactate dehydrogenase (LDH), liver function indexes [total bilirubin (TBIL), direct bilirubin (DBIL), AST, ALT, AST/ALT, ALB, total protein (TP), globulin (GLB), ALB/GLB ratio (A/G), blood amine, γ-glutamyl transpeptidase (γ-GT)], platelet count (PLT), creatinine, activated partial thromboplastin time (APTT), severity of illness scores [acute physiology and chronic health evaluation Ⅱ (APACHEⅡ), sequential organ failure assessment (SOFA)], serum procalcitonin (PCT), N-terminal pro-brain natriuretic peptide (NT-proBNP), arterial blood lactic acid (Lac) within 24 hours after admission, and whether to use mechanical ventilation, whether to use vasoactive drugs, whether to use artificial liver treatment and prognosis during hospitalization also were collected. The differences of clinical data between patients with different prognosis were compared. The variables with statistically significant differences in univariate analysis were included in multivariate Logistic regression analysis to determine the independent risk factors for death of patients with ALF in hyperacute phase of sepsis during hospitalization. The receiver operator characteristic curve (ROC curve) was drawn to evaluate the predictive value of ALB and AST/ALT for death of patients with ALF in hyperacute phase of sepsis during hospitalization.Results:A total of 73 patients with ALF in hyperacute phase of sepsis were included, with 22 survived and 51 died during hospitalization and the mortality of 69.86%. Compared with the survival group, the patients in the death group had lower ALB, γ-GT within 24 hours after admission and proportion of artificial liver treatment, and higher AST/ALT, SOFA score, LDH and proportion of use of vasoactive drugs. The differences were statistically significant. Multivariate Logistic regression analysis showed that ALB and AST/ALT were the independent risk factors for death in patients with ALF in hyperacute phase of sepsis during hospitalization [ALB: odds ratio ( OR) = 0.856, 95% confidence interval (95% CI) was 0.736-0.996, P = 0.044; AST/ALT: OR = 2.018, 95% CI was 1.137-3.580, P = 0.016]. ROC curve analysis showed that the area under the curve (AUC) of ALB for predicting in-hospital death in patients with ALF in hyperacute phase of sepsis was 0.760 (95% CI was 0.637-0.884, P < 0.001). When ALB ≤ 29.05 g/L, the sensitivity was 68.2%, and the specificity was 76.5%. The AUC of AST/ALT for predicting in-hospital death in patients with ALF in hyperacute phase of sepsis was 0.764 (95% CI was 0.639-0.888, P < 0.001). When AST/ALT ≥ 1.26, the sensitivity was 59.1%, and the specificity was 90.2%. Conclusions:The lower the ALB level, and the higher the AST/ALT within 24 hours after admission, the worse the prognosis of patients with ALF in hyperacute phase of sepsis. ALB and AST/ALT can be used as clinical indicators to evaluate the severity and prognosis of patients with ALF in hyperacute phase of sepsis.

Objective:To investigate the species and distribution of mosquito-borne arboviruses in the southeastern part of Gansu province.Methods:In 2023, mosquitoes were collected using ultraviolet lights in Longnan and Tianshui regions of Gansu province. After classification by morphology, about 50 are only 1 batch. RT-qPCR was used to detect the RNA of Japanese encephalitis virus (JEV), Banna virus (BAV), Getah virus (GETV), Culex flavivirus (CxFV) and Tahyna virus (TAHV). The genomes of the positive samples were sequenced and the genetic evolution of the virus genomes were analyzed by bioinformatics software.Results:In total, there were 8 176 mosquitoes from 4 genera and 9 species collected from Longnan and Tianshui from June to August 2023. Culex tritaeniorhynchus was the most common species with 55.80% (4 562/8 176) of the total mosquitoes collected, followed by 16.43% (1 343/8 176) of Culex pipiens pallens. A total of 263 batches of samples were obtained, and the nucleic acid test showed that 1 batch was positive for JEV, 2 batches were positive for BAV, 3 batches were positive for GETV and 25 batches were positive for CxFV. Conclusions:Culex tritaeniorhynchus was the dominant mosquito species in the southeastern part of Gansu province, and local mosquitoes carried a variety of arboviruses.

Objective To establish a method for measurement of ²³⁹Pu in fecal samples based on inductively coupled plasma-mass spectrometry (ICP-MS), and to provide a novel method for assessing the internal exposure of workers. Methods Fecal samples were collected from workers and labeled. The samples were pretreated with carbonization ashing and microwave digestion devices, purified on TEVA resin, and measured using ICP-MS. Results The detection limit of ²³⁹Pu in fecal samples based on ICP-MS was 1.91 × 10⁻⁴ Bq. Conclusion In the routine monitoring of class S substances characterized by a 5 μm aerodynamic diameter during 12 months, the committed effective dose corresponding to the detection limit is 0.17 mSv. This value meets the requirements of relevant national standards and ICP-MS can be used as a novel means for accurate evaluation of internal exposure for workers.

Objective To preliminarily study and establish a method for measurement of the transuranic nuclide ²⁴¹Am in fecal samples, and to provide technical support for internal radiation monitoring of staff. Methods Fecal samples were collected with a self-made stool sampler and treated with a self-made carbonization and ashing furnace. DGA resin was used to separate and purify ²⁴¹Am from fecal samples. With ²⁴³Am as the tracer, the orthogonal method was used for condition optimization. Results The optimum conditions for separation and purification were: the acidity of HNO₃ added into the column, 6 mol/L; column flow rate, 0.6 mL/min; and the volume of analytical solution,12 mL. The method based on inductively coupled plasma mass spectrometry showed a detection limit of 9.79×10⁻⁴ Bq for ²⁴¹Am in fecal samples, which was satisfactory and feasible. Conclusion This method fills the vacancy of ²⁴¹Am measurement in fecal samples to some extent, which is of practical significance for internal radiation monitoring and protection for analysts.