Rice is the world's largest food crop, and its yield and quality are directly related to food security and human health. Grain size, as one of the important factors determining the rice yield, has been widely concerned by breeders and researchers for a long time. To decipher the regulatory mechanism of rice grain size, we obtained a multi-tiller, dwarf, and small-grain mutant htd1 by ethyl methanesulfonate (EMS) mutation from the Japonica rice cultivar 'Zhonghua 11' ('ZH11'). Genetic analysis indicated that the phenotype of htd1 was controlled by a single recessive gene. Using the mutation site map (Mutmap) method, we identified the candidate gene OsHTD1, which encoded a carotenoid cleavage dioxygenase involved in the biosynthesis of strigolactone (SL). The SL content in htd1 was significantly lower than that in 'ZH11'. Cytological analysis showed that the grain size of the mutant decreased due to the reductions in the length and width of glume cells. The function of htd1 was further verified by the CRISPR/cas9 gene editing technology. The plants with the gene knockout exhibited similar grain size to the mutant. In addition, gene expression analysis showed that the expression levels of multiple grain size-related genes in the mutant changed significantly, suggesting that HTD1 may interact with other genes regulating grain size. This study provides a new theoretical basis for research on the regulatory mechanism of rice grain size and potential genetic resources for breeding the rice cultivars with high yields.
Oryza/growth & development* ; Mutation ; Edible Grain/growth & development* ; Alleles ; Plant Proteins/genetics* ; Dioxygenases/genetics* ; Lactones/metabolism* ; Gene Expression Regulation, Plant ; Genes, Plant ; Gene Editing ; CRISPR-Cas Systems ; Phenotype

Objective To screen Cuproptosis genes and characteristic genes for differential prognosis in acute mye-loid leukemia(AML)and explore their prognosis in AML as well as their biological roles and correlations in the immune and tumor microenvironment.Methods AML clinical,transcriptome,genomic,and copy number data were downloaded from three major databases,TCGA,GEO,and UCSC,and Cuproptosis genes were collected from published studies.From the perspective of multiomics,the effects of Cuproptosis gene and characteristic gene on survival,immunity,tumor microenvironment,stem cell correlation and drug sensitivity were studied by various bioinformatics methods,meta-analysis and secondary typing.Results One Cuproptosis gene was identified as a differential prognostic gene in AML and five characteristic genes were identified as influencing the prognosis of AML patients by influencing Cuproptosis,and a prognostic model was established.The differential genes were mainly concentrated in mitochondrial activity,REDOX enzyme and energy metabolism.In terms of immunity,macrophage M0,neutrophils,activated memory CD4 T cells and Tregs were positively correlated with risk score,while macro-phage M2,resting mast cells,immature CD4 T cells,helper follicular T cells and memory B cells were negatively correlated with risk score.In terms of tumor microenvironment,the immune cell score of the low-risk group was lower than that of the high-risk group,and in the total score,the tumor microenvironment score of the low-risk group was also lower than that of the high-risk group,indicating that the tumor purity of the high-risk group was lower than that of the low-risk group.However,there was no significant association between stem cells in the high-risk and low-risk groups,and a total of 14 drugs were found to be sensitive to treat AML.Conclusion Cuproptosis gene and characteristic gene are closely related to immune and tumor microenvironment in AML by constructing a prognostic model of AML.

Objective:To analyze the positive detection rate, main genotypes of β-thalassemia in western region of Guangxi Zhuang Autonomous Region (referred to as Guangxi).Methods:Retrospective analysis of 26 189 individuals who underwent gene testing for thalassemia at the Affiliated Hospital of Youjiang Medical University for Nationalities from January 2013 to December 2019. Using the crossing breakpoint PCR (Gap-PCR) and reverse dot blot (RDB) techniques to detect Chinese common type of 7 kinds of α-thalassemia and 17 kinds of β-thalassemia genotypes, high-throughput sequencing(Sanger) was performed for suspected rare β-thalassemia. Gap-PCR was used for suspected deletion β-thalassemia types.Results:β-thalassemia was diagnosed in 4 495 (17.16%) of 26 189 samples. A total of 6 177 alleles of 20 types of β-thalassemia were detected, mainly CD17 (2 712 cases, 43.90%) and CD41-42 (2 240 cases, 36.26%), including 7 rare alleles: Gγ +( Aγδβ) 0, SEA-HPFH, Hb New York, Hb G-Taipei, Hb Hezhou, Hb G-Coushatta and IVS-Ⅱ-81. There were 3 903 case (86.83%) heterozygous, 273 case (6.07%) double heterozygous, and 319 case (7.10%) homozygous among 4 495 β-thalassaemia subjects. A total of 48 genotypes were detected. The two most common genotypes were CD17/β N (1 890 cases, 42.05%) and CD41-42/β N (1 212 cases, 26.96%), accounted for 69.01% (3 102/4 495). Seven rare genotypes were detected: Gγ +( Aγδβ) 0/β N in 3 cases, Hb New York/β N in 3 cases, Hb G-Taipei/β N in 2 cases, SEA-HPFH/β N, Hb Hezhou/β N, Hb G-Coushatta/β N and IVS-Ⅱ-81/β N in 1 case each. A total of 1 041 cases (3.97%, 1 041/26 189) of 116 types of αβ-thalassemia were detected, mainly -- SEA/αα composite CD17/β N (144 cases, 13.83%), followed by -α 3.7/αα composite CD17/β N (112 cases, 10.76%). Conclusions:Western region of Guangxi is a high prevalence area of β-thalassemia, CD17/β N and CD41-42/β N are the main genotypes. The variation spectrum of β-thalassemia is complex and diverse, with rich genotype.

Objective To investigate the clinical efficacy of percutaneous closure of foramen ovale guided by transthoracic echocardio-graphy with simply delivery sheath.Methods The clinical data of patients with patent foramen ovale underwent interventional closure and percutaneous closure guided by transthoracic echocardiography with simply delivery sheath in our hospital from January 2020 to December 2022 were analyzed retrospectively,the patients were divided into interventional closure group(40 cases)and simply delivery sheath group(39 cases).The operation time,incidence of surgical complications,and surgical success rates of patients in the two groups were compared.The closure effect were evaluated by ultrasound immediately after surgery.All the patients were followed up for 6 months after surgery to evaluate remission of the symptoms.Results The surgical success rate of simply delivery sheath group(100%)was higher than that of interventional closure group(90.0%),with statistically significant difference(P<0.05).The operation time of simply delivery sheath group was longer than that of interventional closure group,with statistically significant difference(P<0.05).One patient in the interventional closure group had small amount of pericardial effusion during the operation.Two patients had decreased blood pressure and slowed heart rate in simply delivery sheath group,and symptoms disappeared after treatment.There was no significant difference in the incidence of complications between the two groups(P>0.05).After 6-month follow-up,all occluders were in good position and no residual leakage was found.The symptoms of headache or dizziness disappeared in 28 patients in interventional closure group,significantly relieved in 8 patients;the symptoms of headache or dizziness disappeared in 30 patients in simply delivery sheath group,and significantly relieved in 9 patients.Conclusion Percutaneous closure for patent foramen ovale under the guidence of transthoracic echocardiography with simply delivery sheath is safe and feasible with satisfactory efficacy and higher successful rate without radiation hazard.It is worthy of clinical promotion.

Objective:To investigate the clinical characteristics and treatment of patients with perianal necrotizing fasciitis.Methods:This study was a retrospective cohort study. Twenty patients with perianal necrotizing fasciitis who met the inclusion criteria were admitted to the Department of Burn and Plastic Surgery of the First Affiliated Hospital of Guangxi Medical University (hereinafter referred to as our department) from August 2013 to September 2023, including 19 males and 1 female, aged 24-74 (56±11) years. Based on the spreading route of perianal infection to the lower abdomen, the patients were divided into perianal-inguinal-lower abdominal wall group (12 cases) and perianal-pelvic cavity-retroperitoneal group (8 cases). The following clinical data were compared between the two groups of patients: general data, including gender, age, combined underlying diseases, blood glucose level and acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ) score when admitted to our department, and laboratory risk indicator for necrotizing fasciitis (LRINEC) score when admitted to our department and at 14 d after admitted to our department; infection indicators when admitted to our department, including C-reactive protein level, white blood cell count, lymphocyte count, procalcitonin level, and lactic acid level; clinical outcome-related indicators, including time from onset to definite infection range, number of surgery, treatment in intensive care unit (ICU), length of hospital stay, treatment outcome, and recurrence of necrotizing fasciitis during follow-up; detection of pathogen and bacterial drug resistance in wound necrotic tissue specimen when admitted to our department.Results:Compared with those in perianal-inguinal-lower abdominal wall group, the APACHE Ⅱ score and lactic acid level when admitted to our department and LRINEC score at 14 d after admitted to our department (with t values of -5.98, -5.01, and -2.86, respectively, P<0.05) and ICU treatment ratio ( P<0.05) were significantly increased, the time from onset to definite infection range was significantly prolonged ( Z=-3.75, P<0.05), and the number of surgery was significantly increased ( Z=2.80, P<0.05) in patients in perianal-pelvic cavity-retroperitoneal group. There were no statistically significant differences in other data between the two groups of patients ( P>0.05). Eighteen patients were cured, and no recurrence of perianal necrotizing fasciitis was observed during follow-up of 6 months in 18 cured patients. The main bacteria were Escherichia coliand Klebsiella pneumoniae, and the fungui were Aspergillus and Candida albicans detected in wound necrotic tissue specimens in two groups of patients when admitted to our department. The ratio of multiple drug resistance of bacteria in wound necrotic tissue specimens in perianal-pelvic cavity-retroperitoneal group of patients was significantly higher than that in perianal-inguinal-lower abdominal wall group ( P<0.05). Conclusions:Perianal necrotizing fasciitis can spread to the lower abdomen through two routes: the perianal-inguinal-lower abdominal wall route and the perianal-pelvic cavity-retroperitoneal route. The latter is more insidious in disease progression and more challenging in treatment. Establishing a mechanism of multi-disciplinary team diagnosis and treatment can achieve the goal of early diagnosis and precise treatment of perianal necrotizing fasciitis.

Objective To explore the correlation between serum levels of retinol-binding protein(RBP)and β2-microglobulin(β2-MG)levels with the disease and disease outcome in patients with septic shock.Methods A total of 120 patients with sepsis admitted to Qinzhou Hospital of Traditional Chinese Medicine from November 2020 to November 2022 were selected as research objects,and divided into sepsis group(76 cases)and septic shock group(44 cases)according to the severity of the disease.A total of 96 healthy subjects were selected as control group.According to the 28-day disease outcome of sepsis shock group,10 patients died(worsening group)and 34 patients survived(outcome group).Serum RBP and β2-MG levels were detected by immunoturbidimetry within 24 h after admission.Serum RBP and β2-MG levels were compared among all groups.Receiver operating characteristic curve(ROC)was used to evaluate the predictive value of serum RBP and β2-MG on the disease outcome of patients with septic shock.Multivariate Logistic regression was used to analyze the related factors affecting the disease outcome of patients with septic shock.Results WBC count,procalcitonin,C reactive protein level,acute physiology and chronic health status score system Ⅱ score,se-quential organ failure assessment(SOFA)score in sepsis shock group were higher than those in sepsis group and control group,and platelet count was lower than those in sepsis group and control group,the difference was statistically significant(P＜0.05).Serum RBP and β2-MG levels in sepsis shock group were higher than those in sepsis group and control group,and the difference was statistically significant(P＜0.05).The levels of serum RBP and β2-MG in the worsening group were higher than those in the outcome group,and the differ-ence was statistically significant(P＜0.05).ROC curve analysis showed that the area under the curve of ser-um RBP and β2-MG combined to evaluate the outcome of septic shock disease was 0.910(95％CI:0.865-0.955).Multivariate Logistic regression analysis showed that serum RBP,β2-MG,C reactive protein and SO-FA score were all risk factors affecting the disease outcome of septic shock patients(P＜0.05).Conclusion The serum levels of RBP and β2-MG in patients with septic shock are increased,and the changes of both levels are related to the disease outcome.The combined application has a better predictive value for the disease outcome in patients with septic shock.

OBJECTIVE To analyze the chemical components that were the absorbed in blood and liver tissue of rats after intragastric administration of aqueous extract from Abrus cantoniensis， and to speculate its possible metabolic pathways， providing reference for basic analysis of pharmacological substance in A. cantoniensis. METHODS Male SD rats were randomly divided into A. cantoniensis group （0.63 g/kg， calculated by crude drug） and blank group； they were given relevant drug solution/ultrapure water intragastrically. After a single dose， plasma and liver samples of rats in each group were collected. UPLC-Q-TOF/MS technology was used to identify chemical components that were absorbed in the blood and liver tissue of rats. RESULTS Totally， 30 chemical constituents were identified from the water extracts of A. cantoniensis， including alkaloids， flavonoids， organic acids， iridoids （such as L-abrine， schaftoside， isoshaftoside）. Ten prototype components and nine metabolites （such as decarboxylation and sulfation metabolites of protocatechuic acid， reduced sulfated metabolites of p-hydroxybenzoic acid） were identified from plasma samples； six prototype components and five metabolites （such as sulfated metabolites of p-hydroxybenzoic acid， decarboxylation and sulfation metabolites of p-hydroxybenzoic acid） were identified from liver samples. The main metabolic pathways included hydroxylation， demethylation， methylation， sulfation， glucuronidation， etc. CONCLUSIONS Alkaloids， flavonoids and organic acids are the main components of the aqueous extract from A. cantoniensis that are absorbed into the blood and liver， their metabolism mainly involves hydroxylation，demethylation， and sulfation.

Neurodevelopmental disorders in children have become a significant global public health concern,impacting child health worldwide.In China,the current intervention model for high-risk infants involves early diagnosis and early treatment.However,in recent years,overseas studies have explored novel preventive early intervention strategies for neurodevelopmental disorders in high-risk infants,achieving promising results.This article provides a comprehensive review of the optimal timing,methods,and intervention models of the preventive early intervention strategies for neurodevelopmental disorders in high-risk infants.The aim is to enhance the awareness and knowledge of healthcare professionals regarding preventive early intervention strategies for neurodevelopmental disorders in high-risk infants,facilitate clinical research and application of such interventions in China,and ultimately reduce the incidence of neurodevelopmental disorders in this high-risk population.[Chinese Journal of Contemporary Pediatrics,2024,26(3):297-301]

Infertility is a global health issue,and more and more people are hoping to have babies by means of assisted reproductive technology.However,there are still many challenges in fertilization and pregnancy outcomes.Sperm quality is a key factor affecting the success rate of assisted reproduction.Therefore,sperm quality screening is crucial for achieving breakthroughs in assisted reproduction technology.At present,with its capabilities in the field of image recognition,artificial intelligence(AI)is providing new ideas and methods for sperm screening.Various attempts have been made with AI-based models to evaluate indicators such as sperm morphology,DNA quality,and motility level,and some results have been achieved.Herein,we reviewed the application of AI in sperm quality analysis and selection,providing support for the future development of AI and the improvement in the fertilization rate and outcomes of assisted reproductive technology.

Objective:To investigate the correlation between food-specific IgG (sIgG) antibodies and phenotypes of chronic spontaneous urticaria (CSU) .Methods:Serum samples were collected from outpatients with active CSU, symptomatic dermographism (SD) , or acute urticaria (AU) , and healthy controls from 5 third-grade class-A hospitals such as the First Hospital of China Medical University between April 2014 and March 2015. Enzyme-linked immunosorbent assay was conducted to detect serum levels of 90 food-sIgG antibodies and total IgE, Western blot analysis to detect levels of 20 allergen-specific IgE antibodies, and chemiluminescent microparticle immunoassay to detect levels of anti-thyroid peroxidase IgG antibodies and anti-thyroglobulin IgG antibodies. Comparisons of normally distributed quantitative data between two groups and among several groups were performed by t test and one-way analysis of variance, respectively; comparisons of non-normally distributed quantitative data between two groups were performed by Mann-Whitney U test; for comparisons of proportions, chi-square test and Fisher′s exact test were used. Results:A total of 248 patients with CSU, 22 with SD, 15 with AU and 13 healthy controls were recruited. The cut-off level for sIgG positivity was 100 U/ml (at least 2+) , and the positive rate of food-sIgG antibodies was slightly higher in the patients with CSU (176/248, 70.97%) , SD (15/22, 68.18%) and AU (11/15) than in the healthy controls (7/13; χ2 = 1.80, P = 0.615) . Among the 248 CSU patients, the proportion of patients with family history of allergic diseases was significantly higher in the sIgG-positive group (71/176, 40.34%) than in the sIgG-negative group (19/72, 26.39%; χ2 = 4.30, P = 0.042) , while no significant difference was observed in the 1-day urticaria activity score (UASday) between the two groups ( Z = 0.18, P = 0.859) . Totally, 177 CSU patients completed 12- to 40-week treatment; their condition could be completely controlled by second-generation H1-antihistamines, and there was no significant difference in the required dosage of second-generation H1-antihistamines between the sIgG-positive group (128 cases) and sIgG-negative group (49 cases; Z = -1.06, P = 0.298) . Conclusions:The prevalence of family history of allergic diseases was relatively high in food-sIgG-positive patients with CSU. However, food-sIgG could not be used as an indicator to reflect the disease activity of CSU and treatment response.