OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of a child with Acid-labile subunit deficiency (ALS). METHODS: A male child diagnosed with ALS at Dongguan Maternal and Child Health Care Hospital in March 2021 was selected as the study subject. Clinical data of his family was collected. Peripheral blood samples were collected from the child and his parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out, and Sanger sequencing was used for family verification of candidate variants. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of the candidate variant was classified. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2020-6). RESULTS: The patient, a 5-year-and-7-month-old boy, presented with short stature and delayed bone age. Endocrine examinations showed decreased serum concentrations of insulin-like growth factor-1 (IGF-1) and IGF binding protein-3 (IGFBP3). WES revealed that he has harbored compound heterozygous variants of the IGFALS gene, namely c.741_742del, p.Y248Pfs83 and c.272del, p.P91Rfs31. Sanger sequencing verified that the variants were inherited from his father and mother, respectively. According to the ACMG guidelines, c.741_742del, p.Y248Pfs83 and c.272del, p.P91Rfs31 variants were classified as likely pathogenic (PVS1+PM2_supporting). Based on the pre-set literature search strategy, 11 research literature on ALS were retrieved, which involved a total of 33 families and 62 patients. Combined with the patient in this study, 31 IGFALS gene variants were identified among the 63 patients, which mainly consisted of missense variants (20 types), with variant sites concentrated in exon 2. The main clinical features were short stature in conjunct with delayed puberty, with a significant genotype-phenotype correlation. CONCLUSION The IGFALS gene variants NM_004970.2: c.741_742del, p.Y248Pfs83 and c.272del, p.P91Rfs31 may be the genetic etiology in this family. This study has expanded the variant spectrum of the IGFALS gene and provided valuable information for the diagnosis, genetic counseling and clinical treatment of the disease.
Humans ; Male ; Phenotype ; Child, Preschool ; Carrier Proteins/genetics* ; Glycoproteins/deficiency* ; Exome Sequencing ; Female ; Mutation ; Insulin-Like Growth Factor I/metabolism* ; Growth Disorders/genetics*

Objective To explore the home rehabilitation experience of individuals with fully magnetically levitated left ventricular assist device,and to provide a basis for developing scientific nursing intervention plans and follow-up strategies for clinical practice.Methods Using phenomenological research methods,a semi-structured interview was conducted on 13 patients with fully maglev left ventricular assist device implantation in a tertiary A comprehensive hospital in Wuhan from September to October 2022.Colaizzi's 7-step analysis method was used to analyze the data and extract themes.Results A total of 3 themes and 9 subthemes were extracted,including complex emotions in home rehabilitation(challenges for new characters,anxieties and concerns,regaining new life and full of confidence),difficulties in home self-management(lack of professional knowledge,insufficient exercise,difficulty in managing pump cable bag wounds,weak ability to recognize and respond to external controller alarms),and needs for home rehabilitation(need for continuity of care,desire for more social support).Conclusion Complex emotional experiences and many difficulties and needs exist in the home rehabilitation process of patients after implantation of full magnetic levitation left ventricular assist device.Healthcare professionals should actively pay attention to the postoperative psychological changes of patients,strengthen pre-discharge training to improve patients'self-management ability,and actively build a multi-party Internet home rehabilitation management platform to improve the rehabilitation quality of patients.

Genetic transformation is a fundamental tool in molecular biology research of medicinal plants. Tailoring transgenic technologies to each distinct medicinal plant would necessitate a substantial investment of time and effort. Here, we present a simple hairy root transformation method that does not require sterile conditions, utilizing Agrobacterium rhizogenes strain K599 and the visible RUBY reporter system. Transgenic hairy roots were obtained for six tested medicinal plant species, roots or rhizomes of which have recognized medicinal value, spanning four botanical families and six genera (Platycodon grandiflorus, Atractylodes macrocephala, Scutellaria baicalensis, Codonopsis pilosula, Astragalus membranaceus, and Glycyrrhiza uralensis). Furthermore, two previously identified Glycyrrhiza uralensis UGTs that convert liquiritigenin into liquiritin in heterologous systems were studied in planta using the method. Our results indicate that overexpression of GuUGT1 but not GuUGT10 and Cas9-mediated knockout of GuUGT1 profoundly influenced the accumulation of liquiritin and isoliquiritin in licorice roots. Therefore, the method described here represents a simple, rapid and widely applicable hairy root transformation method that enables fast gene functional study in medicinal plants.

OBJECTIVE: In Pakistan, traditional medicines are an important component of the medical system, with numerous varieties and great demands. However, due to the scattered resources and the lack of systematic collection and collation, adulteration of traditional Pakistani medicine (TPM) is common, which severely affects the safety of their medicinal use and the import and export trades. Therefore, it is urgent to systematically organize and unify the management of TPM and establish a set of standards and operable methods for the identification of TPM. METHODS: We collected and organized the information on 128 TPMs with regard to their medicinal parts, efficacy, usage, and genetic material, based on Pakistan Hamdard Pharmacopoeia of Eastern Medicine: Pharmaceutical Codex. The genetic information of TPM is summarized from national center for biotechnology information (NCBI) and global pharmacopoeia genome database (GPGD). Furthermore, we utilized bioinformatics technology to supplement the chloroplast genome (cp-genome) data of 12 TPMs. To build the web server, we used the Linux + Apache + MySQL + PHP (LAMP) system and constructed the webpage on a PHP: Hypertext Preprocessor (PHP) model view controller (MVC) framework. RESULTS: We constructed a new genomic database, the traditional Pakistani medicine genomic database (TPMGD). This database comprises five entries, namely homepage, medicinal species, species identification, basic local alignment search tool (BLAST), and download. Currently, TPMGD contains basic profiles of 128 TPMs and genetic information of 102 TPMs, including 140 cytochrome c oxidase subunit I (COI) sequences and 119 mitochondrial genome sequences from Bombyx mori, 1 396 internal transcribed spacer 2 (ITS2) sequences and 1 074 intergenic region (psbA-trnH) sequences specific to 92 and 83 plant species, respectively. Additionally, TPMGD includes 199 cp-genome sequences of 82 TPMs. CONCLUSION TPMGD is a multifunctional database that integrates species description, functional information inquiry, genetic information storage, molecular identification of TPM, etc. The database not only provides convenience for TPM information queries but also establishes the scientific basis for the medication safety, species identification, and resource protection of TPM.

OBJECTIVE To investigate the distribution characteristics and drug resistance of multidrug-resistant Acinetobacter baumannii(MDRAB)detected clinically in the Army 73rd Group Military Hospital in Xiamen,and to study the carrying conditions of drug-resistant gene-related insertion sequence elements(IS)and transposons(Tn)in the isolated strains of MDRAB.METHODS A total of 300 strains of Acinetobacter baumannii detected from inpatients admitted to the Army 73rd Group Military Hospital from Jan.2016 to Feb.2024 were collected.Automatic bacterial identification instruments and drug susceptibility tests were used for bacterial identi-fication and drug resistance analysis.Polymerase chain reaction(PCR)was employed to detect 6 Tn genetic mark-ers(merA,TnpU,TnpM,TnpR,TnpA21,TnpA7)and 3 IS genes(ISEcp1,ISCR1,IS26)in MDRAB strains.The detected IS and Tn-positive genes were subjected to sequencing and alignment verification.RESULTS Among 300 Acinetobacter baumannii strains,49(16.33％)were MDRAB.Most MDRAB strains were found in patients aged 75 and above(44.90％),mainly isolated from the brain center ICU(34.69％),critical care medi-cine ICU(20.41％),and respiratory medicine department(16.33％),sputum specimens accounted for the ma-jority(77.55％).MDRAB strains exhibited high drug resistance rates(≥97％)to cefpodoxime,nitrofurantoin,and aztreonam.MDRAB strains showed drug resistance rates＞80％to most antimicrobial agents,but were sensi-tive to polymyxin(12.24％)and tigecycline(28.57％).Compared with non-MDRAB strains,there were statisti-cally significant differences in drug resistance to common antimicrobial agents(P＜0.05).Among MDRAB strains,ISCR1,IS26,TnpU and TnpM genes were detected in IS and Tn,with detection rates of 51.02％,48.98％,51.02％and 22.45％,respectively.merA,TnpR,TnpA21,TnpA7 and ISEcp1 were not detected.CONCLUSIONS The drug resistance of Acinetobacter baumannii is severe,especially in elderly and criti-cally ill patients.The transmission of MDRAB strains may be associated with the genes ISCR1,IS26,TnpM and TnpU.

OBJECTIVE To investigate the distribution characteristics and drug resistance of multidrug-resistant Acinetobacter baumannii(MDRAB)detected clinically in the Army 73rd Group Military Hospital in Xiamen,and to study the carrying conditions of drug-resistant gene-related insertion sequence elements(IS)and transposons(Tn)in the isolated strains of MDRAB.METHODS A total of 300 strains of Acinetobacter baumannii detected from inpatients admitted to the Army 73rd Group Military Hospital from Jan.2016 to Feb.2024 were collected.Automatic bacterial identification instruments and drug susceptibility tests were used for bacterial identi-fication and drug resistance analysis.Polymerase chain reaction(PCR)was employed to detect 6 Tn genetic mark-ers(merA,TnpU,TnpM,TnpR,TnpA21,TnpA7)and 3 IS genes(ISEcp1,ISCR1,IS26)in MDRAB strains.The detected IS and Tn-positive genes were subjected to sequencing and alignment verification.RESULTS Among 300 Acinetobacter baumannii strains,49(16.33％)were MDRAB.Most MDRAB strains were found in patients aged 75 and above(44.90％),mainly isolated from the brain center ICU(34.69％),critical care medi-cine ICU(20.41％),and respiratory medicine department(16.33％),sputum specimens accounted for the ma-jority(77.55％).MDRAB strains exhibited high drug resistance rates(≥97％)to cefpodoxime,nitrofurantoin,and aztreonam.MDRAB strains showed drug resistance rates＞80％to most antimicrobial agents,but were sensi-tive to polymyxin(12.24％)and tigecycline(28.57％).Compared with non-MDRAB strains,there were statisti-cally significant differences in drug resistance to common antimicrobial agents(P＜0.05).Among MDRAB strains,ISCR1,IS26,TnpU and TnpM genes were detected in IS and Tn,with detection rates of 51.02％,48.98％,51.02％and 22.45％,respectively.merA,TnpR,TnpA21,TnpA7 and ISEcp1 were not detected.CONCLUSIONS The drug resistance of Acinetobacter baumannii is severe,especially in elderly and criti-cally ill patients.The transmission of MDRAB strains may be associated with the genes ISCR1,IS26,TnpM and TnpU.

Objective To explore the home rehabilitation experience of individuals with fully magnetically levitated left ventricular assist device,and to provide a basis for developing scientific nursing intervention plans and follow-up strategies for clinical practice.Methods Using phenomenological research methods,a semi-structured interview was conducted on 13 patients with fully maglev left ventricular assist device implantation in a tertiary A comprehensive hospital in Wuhan from September to October 2022.Colaizzi's 7-step analysis method was used to analyze the data and extract themes.Results A total of 3 themes and 9 subthemes were extracted,including complex emotions in home rehabilitation(challenges for new characters,anxieties and concerns,regaining new life and full of confidence),difficulties in home self-management(lack of professional knowledge,insufficient exercise,difficulty in managing pump cable bag wounds,weak ability to recognize and respond to external controller alarms),and needs for home rehabilitation(need for continuity of care,desire for more social support).Conclusion Complex emotional experiences and many difficulties and needs exist in the home rehabilitation process of patients after implantation of full magnetic levitation left ventricular assist device.Healthcare professionals should actively pay attention to the postoperative psychological changes of patients,strengthen pre-discharge training to improve patients'self-management ability,and actively build a multi-party Internet home rehabilitation management platform to improve the rehabilitation quality of patients.

Objective:To analyse the clinical significance of selective single embryo transfer by time-lapse mo-nitoring(TLM)or conventional morphology assessment(CMA)in vitro fertilization/intracytoplasmic sperm in-jection and embryo transfer(IVF/ICSI-ET),and to initially explore the predictive value of Raman spectral analy-sis of embryo culture medium for clinical pregnancy rate.Methods:The study is a prospective randomized con-trolled clinical trial.We assigned 139 patients treated with IVF/ICSI-ET in Reproductive and Genetics Center of Suzhou Municipal Hospital from April 2019 to July 2020,which were randomly assigned to either the CMA or the TLM group.We performed selective single-embryo transfer(fresh cycle and FET)after selecting the optimal em-bryos with TLM or CMA respectively.If the patient's first embryo transfer was unsuccessful,a second one would be performed to compare the differences in the cumulative live birth rate of embryo transfer and other pregnancy outcomes between the two groups.Meanwhile,we collected 15 μl of embryo culture medium at day 3 after IVF/ISCI fertilization for Raman spectroscopy analysis.Results:There were no differences in cumulative live birth,cu-mulative clinical pregnancy,cumulative premature birth,cumulative early spontaneous abortion,cumulative ectopic pregnancy and LGA or SGA between TLM and CMA groups(P＞0.05).The Neonatal sex ratio in the TLM group was lower than that in the CMA group,but the difference was not significant(P＞0.05).Raman spectros-copy analysis of embryo culture medium predicted the clinical pregnancy rate with 67.21％accuracy.Conclu-sions:In young women with a good ovarian reserve,the advantage of using TLM to evaluate embryos is not obvi-ous,so we should remain vigilant that embryo selection based on morphokinetic parameters may affect the sex ratio.Raman spectroscopic analysis of embryo culture medium is not yet able to effectively predict the planting ability of embryos.

Objective:To explore the effects of human chorionic gonadotropin (hCG), progesterone as well as the change of estradiol 12 h after hCG trigger on the outcomes of in vitro fertilization/intracytoplasmic sperm injection and embryo transfer (IVF/ICSI-ET). Methods:A retrospective study was conducted at the Center for Reproduction and Genetics of the Affiliated Suzhou Hospital of Nanjing Medical University. A total of 2 506 patients received IVF/ICSI-ET treatment with gonadotropin-releasing hormone agonist (GnRH-a) protocol from March 2015 to June 2020 were selected. With Spearman rank correlation analysis and path analysis, we explore the relationship among the changes of these hormones and the baseline characteristic of patients, as well as the relationship among the changes of these hormones and the outcomes of IVF treatment.Results:The increase of hCG was accompanied by the rise of progesterone and the decline of estradiol change rate ( r=0.094, P<0.001; r=-0.093, P<0.001). Meanwhile the rise of progesterone was accompanied by the decline of estradiol change rate ( r=-0.089, P<0.001). The dosage of hCG trigger was directly positively correlated to hCG level after hCG trigger, path coefficients (PC) was 0.307 ( P<0.001). Body mass index (BMI) was directly negatively correlated to hCG level and progesterone level after hCG trigger (PC=-0.434, P<0.001; PC=-0.154, P<0.001), whereas positively correlated to estradiol change rate (PC=0.097, P<0.001). Meanwhile the duration and dosage of gonadotropin (Gn) used were positively correlated to progesterone level after hCG trigger (PC=0.102, P<0.001; PC=0.080, P=0.030). hCG level and progesterone level after hCG trigger had positive correlation to oocyte retrieved rate (PC=0.098, P<0.001; PC=0.080, P<0.001). While estradiol change rate was not correlated to oocyte retrieved rate ( P>0.05). Progesterone level on hCG trigger day negatively related to normal fertilization rate (PC=-0.050, P=0.039). hCG level, progesterone level and estradiol change rate after hCG trigger had no correlation with high-quality embryo rate, clinical pregnancy rate and live birth rate (all P>0.05). Conclusion:Oocyte retrieved rate was positively affected by hCG level and progesterone level 12 h after hCG trigger. While normal fertilization rate, high-quality embryo rate, clinical pregnancy rate and live birth rate were not affected by the change of hormones level 12 h after hCG trigger. Therefore we should pay attention to hCG level and progesterone level 12 h after hCG trigger.

Objective To develop and validate a prediction model for extended hospitalisation in patients with ischemic stroke.Methods A total of 318 patients with ischemic stroke hospitalised between November 2021 and May 2023 in a Grade ⅢA hospital in Changzhou were selected as study objects with a convenience sampling method.The modelling group consisted 212 patients and the validation group included 106 patients.The patients in the modelling group were divided into a group of extended hospital stay and a group of normal hospital stay.Binary logistic regression analysis was conducted to develop the prediction model,and data from the 106 patients in the validation group were then incorporated into the developed prediction model.The prediction performance and goodness-of-fit of the model were accessed using the area under the curve(AUC)of the receiver operation characteristic(ROC)curve and the Hosmer-Lemeshow test.Results Multivariate logistic analysis showed that comorbid diabetes,number of complications during hospitalisation,a Braden score less than 18,and a white blood cell count greater than 3.5×109/L or more than 9.5×109/L were the risk factors of extended hospitalisation in patients with cerebral ischemic stroke.Based on the factors,a prediction model was developed with following formula:P=1/[1+exp(-Z)].Hosmer-Lemeshow test for the prediction model yielded χ 2=7.430,P=0.191.AUC of the prediction model was 0.818(95％CI:0.754-0.883,P<0.001)with Jordon index of 0.51 and the optimal cut-off value of 0.268,sensitivity of 78.9％and specificity of 72.3％The results of the validation of independent data model showed a sensitivity of 75.0％,specificity of 74.4％,and accuracy of 74.5％.Conclusion Comorbid diabetes,Braden score at admission,white blood cell count and the number of complications during hospitalisation are the significant factors that affect the length of hospital stay in the patients with ischemic stroke.The prediction model for extended hospitalisation of the patients with ischemic stroke exhibits good predictive value and can provide reference in clinical decision-making.