Objective To investigate the effects of Amanita caojizong on cardiomyocyte apoptosis and the expression of apoptosis-related factors Bcl-2 and Bax,thereby providing experimental evidence for the prevention and treatment of Amanita caojizong poisoning.Methods Mouse cardiomyocytes(HL-1 cells)cultured in vitro were divided into an experimental group(treated with Amanita caojizong extract)and a control group(treated with PBS).After treatment with Amanita caojizong extract,apoptosis of HL-1 cells was observed using TUNEL staining,and the protein expression levels of Bax,Bcl-2,Caspase-3,and Cleaved Caspase-3 in HL-1 cardiomyocytes were detected by Western blot.Results Compared with the control group,the TUNEL staining showed significantly increased apoptotic fluorescence intensity in the Amanita caojizong extract-treated group.The protein expressions of Bax,Caspase-3,and Cleaved Caspase-3 in HL-1 cells in the Amanita caojizong-treated group were upregulated,while the expression of Bcl-2 was downregulated.Conclusion Amanita caojizong can promote apoptosis of mouse cardiomyocytes,and its mechanism may be associated with the Bcl-2/Bax pathway.

Objective To investigate the effects of Amanita caojizong on cardiomyocyte apoptosis and the expression of apoptosis-related factors Bcl-2 and Bax,thereby providing experimental evidence for the prevention and treatment of Amanita caojizong poisoning.Methods Mouse cardiomyocytes(HL-1 cells)cultured in vitro were divided into an experimental group(treated with Amanita caojizong extract)and a control group(treated with PBS).After treatment with Amanita caojizong extract,apoptosis of HL-1 cells was observed using TUNEL staining,and the protein expression levels of Bax,Bcl-2,Caspase-3,and Cleaved Caspase-3 in HL-1 cardiomyocytes were detected by Western blot.Results Compared with the control group,the TUNEL staining showed significantly increased apoptotic fluorescence intensity in the Amanita caojizong extract-treated group.The protein expressions of Bax,Caspase-3,and Cleaved Caspase-3 in HL-1 cells in the Amanita caojizong-treated group were upregulated,while the expression of Bcl-2 was downregulated.Conclusion Amanita caojizong can promote apoptosis of mouse cardiomyocytes,and its mechanism may be associated with the Bcl-2/Bax pathway.

Objective:To analyze the association between pulmonary surfactant protein C ( SP- C) gene polymorphisms and the risk of Neonatal respiratory distress syndrome (NRDS). Methods:Clinical data from 168 neonates diagnosed with NRDS (NRDS group) admitted between August 2020 and June 2023 were collected. Additionally, 168 neonates without respiratory distress, born during the same period, were included as the control group. Peripheral venous blood samples(2 mL each) were collected from both groups. PCR-restriction fragment length polymorphism technique was employed to detect the polymorphisms at the SP- C gene loci p. Thr138Asn (rs4715) and p. Ser186Asn (rs1124). Hardy-Weinberg equilibrium tests were conducted for genotyping, and genotypic and allelic frequencies were compared. The association between SP- C gene polymorphisms and NRDS risk was evaluated. Furthermore, genotypic and allelic frequencies at the rs4715 and rs1124 loci were compared among NRDS cases with varying degrees of disease severity. The study was approved by the Medical Ethics Committee of Shangqiu First People′s Hospital (Ethics No. 2020-031). Results:① The frequency of the variant allele (A) at the rs4715 locus was significantly higher in the NRDS group compared to the control group (32.14% vs. 24.11%, P=0.001). The frequency of the variant genotype (AA + AC) was also higher in the NRDS group (47.02% vs. 39.29%, P=0.043). ② The frequency of the variant allele (A) at the rs1124 locus was higher in the NRDS group compared to the control group (34.23% vs. 23.51%, P=0.027), with a higher frequency of the variant genotype (AA + AG) in the NRDS group (49.40% vs. 39.29%, P=0.019). ③ No significant correlation was observed between the rs4715 polymorphism and the severity of NRDS ( P>0.05). ④ Among NRDS children with grade Ⅲ severity, the frequency of the variant allele (A) at the rs1124 locus was higher than in grade Ⅰ and grade Ⅱ children (47.62% vs. 29.22%, P=0.020). The frequency of the variant genotype (AA + AG) was also higher in grade Ⅲ children (64.28% vs. 43.84%, P=0.040). Conclusion:SP- C gene polymorphisms are associated with the susceptibility to NRDS. Neonates carrying the AA genotype and the A allele at the rs1124 locus are at a higher risk of severe NRDS. These findings have provided further evidence for early screening, diagnosis, and treatment of NRDS.

The clinical data, diagnosis and treatment of a child with Robinow syndrome (RS) caused by the DVL1 gene mutation, who was treated in the Department of Endocrinology, Genetics and Metabolism, Children′s Hospital of Nanjing Medical University in May 2023, were retrospectively analyzed.The male child, 2 years old, presented with 2 years of external genital abnormality.The main clinical features included intrauterine growth retardation, external genital abnormalities, craniofacial anomalies, skeletal malformations and congenital heart diseases.Whole exome sequencing revealed that the patient carried a heterozygous mutation c. 1529delG(p.G510Vfs*139) in exon 14 of the DVL1 gene.Cases of the DVL1 gene mutation have not been documented in Chinese.A review of literature identified 25 (including the case in this report) cases of RS in children attributed to DVL1 gene mutations, revealing common clinical features such as craniofacial anomalies, skeletal malformations, external genital abnormalities, heart diseases, short stature, and hearing impairments.Cognitive abilities are typically unaffected, and reproductive function remains normal.Notably, 19 identified DVL1 gene mutations are clustered within a specific genomic region (c.1496-c.1631), with no discernible genotype-phenotype correlation observed.

The exploration of anesthesia and consciousness has always been an important subject in neuroscience,but the underlying neural mechanisms of consciousness are still unclear,which limits the de-velopment of anesthesia monitoring and consciousness evaluation systems.The neural correlates of conscious-ness(NCC)cannot be determined by a single brain region or mechanism,suggesting that consciousness may arise from complex interactions of brain functions on space and time scales.In order to characterize these interactions,network science has been introduced in exploring the mechanisms of consciousness.In this paper,the basic concepts and common indicators of brain network research are introduced,and the lat-est progress of brain network research in anesthesia is reviewed,so as to provide new ideas for the applica-tion of brain network indicators in clinical monitoring and provide directions for the exploration of NCC.

Objective To optimize the flash extraction process of Huangyu Shenshu Granules based on Box-Behnken design-response surface methodology. Methods The extraction yields of morroniside and loganin, as well as the yield of dry extract, were used as evaluation indices. The rotation speed, liquid-solid ratio, and extraction time were selected as the investigation factors. Based on preliminary experiments, combined with Box-Behnken design-response surface methodology, the flash extraction process of Huangyu Shenshu Granules was studied and optimized. Results The optimal condition for the flash extraction of Huangyu Shenshu Granules were taking water as the extraction solvent, with a rotation speed of 4, 560 r/min, a liquid-solid ratio of 23 mL/g, and an extraction time of 85 s. Conclusion The flash extraction process established based on Box-Behnken design-response surface methodology is rapid and efficient, and suitable for the subsequent industrialization development of Huangyu Shenshu Granules.

OBJECTIVE: To analyze the association between pulmonary surfactant protein C (SP-C) gene polymorphisms and the risk of Neonatal respiratory distress syndrome (NRDS). METHODS: Clinical data from 168 neonates diagnosed with NRDS (NRDS group) admitted between August 2020 and June 2023 were collected. Additionally, 168 neonates without respiratory distress, born during the same period, were included as the control group. Peripheral venous blood samples (2 mL each) were collected from both groups. PCR-restriction fragment length polymorphism technique was employed to detect the polymorphisms at the SP-C gene loci p.Thr138Asn (rs4715) and p.Ser186Asn (rs1124). Hardy-Weinberg equilibrium tests were conducted for genotyping, and genotypic and allelic frequencies were compared. The association between SP-C gene polymorphisms and NRDS risk was evaluated. Furthermore, genotypic and allelic frequencies at the rs4715 and rs1124 loci were compared among NRDS cases with varying degrees of disease severity. The study was approved by the Medical Ethics Committee of Shangqiu First People's Hospital (Ethics No. 2020-031). RESULTS: The frequency of the variant allele (A) at the rs4715 locus was significantly higher in the NRDS group compared to the control group (32.14% vs. 24.11%, P = 0.001). The frequency of the variant genotype (AA + AC) was also higher in the NRDS group (47.02% vs. 39.29%, P = 0.043). The frequency of the variant allele (A) at the rs1124 locus was higher in the NRDS group compared to the control group (34.23% vs. 23.51%, P = 0.027), with a higher frequency of the variant genotype (AA + AG) in the NRDS group (49.40% vs. 39.29%, P = 0.019). No significant correlation was observed between the rs4715 polymorphism and the severity of NRDS (P > 0.05). Among NRDS children with grade III severity, the frequency of the variant allele (A) at the rs1124 locus was higher than in grade I and grade II children (47.62% vs. 29.22%, P = 0.020). The frequency of the variant genotype (AA + AG) was also higher in grade III children (64.28% vs. 43.84%, P = 0.040). CONCLUSION SP-C gene polymorphisms are associated with the susceptibility to NRDS. Neonates carrying the AA genotype and the A allele at the rs1124 locus are at a higher risk of severe NRDS. These findings have provided further evidence for early screening, diagnosis, and treatment of NRDS.
Humans ; Respiratory Distress Syndrome, Newborn/genetics* ; Infant, Newborn ; Gene Frequency ; Genotype ; Polymorphism, Single Nucleotide ; Pulmonary Surfactant-Associated Protein C/genetics* ; Genetic Predisposition to Disease ; Female ; Male ; Alleles

Objective:To analyze the association between pulmonary surfactant protein C ( SP- C) gene polymorphisms and the risk of Neonatal respiratory distress syndrome (NRDS). Methods:Clinical data from 168 neonates diagnosed with NRDS (NRDS group) admitted between August 2020 and June 2023 were collected. Additionally, 168 neonates without respiratory distress, born during the same period, were included as the control group. Peripheral venous blood samples(2 mL each) were collected from both groups. PCR-restriction fragment length polymorphism technique was employed to detect the polymorphisms at the SP- C gene loci p. Thr138Asn (rs4715) and p. Ser186Asn (rs1124). Hardy-Weinberg equilibrium tests were conducted for genotyping, and genotypic and allelic frequencies were compared. The association between SP- C gene polymorphisms and NRDS risk was evaluated. Furthermore, genotypic and allelic frequencies at the rs4715 and rs1124 loci were compared among NRDS cases with varying degrees of disease severity. The study was approved by the Medical Ethics Committee of Shangqiu First People′s Hospital (Ethics No. 2020-031). Results:① The frequency of the variant allele (A) at the rs4715 locus was significantly higher in the NRDS group compared to the control group (32.14% vs. 24.11%, P=0.001). The frequency of the variant genotype (AA + AC) was also higher in the NRDS group (47.02% vs. 39.29%, P=0.043). ② The frequency of the variant allele (A) at the rs1124 locus was higher in the NRDS group compared to the control group (34.23% vs. 23.51%, P=0.027), with a higher frequency of the variant genotype (AA + AG) in the NRDS group (49.40% vs. 39.29%, P=0.019). ③ No significant correlation was observed between the rs4715 polymorphism and the severity of NRDS ( P>0.05). ④ Among NRDS children with grade Ⅲ severity, the frequency of the variant allele (A) at the rs1124 locus was higher than in grade Ⅰ and grade Ⅱ children (47.62% vs. 29.22%, P=0.020). The frequency of the variant genotype (AA + AG) was also higher in grade Ⅲ children (64.28% vs. 43.84%, P=0.040). Conclusion:SP- C gene polymorphisms are associated with the susceptibility to NRDS. Neonates carrying the AA genotype and the A allele at the rs1124 locus are at a higher risk of severe NRDS. These findings have provided further evidence for early screening, diagnosis, and treatment of NRDS.

Objective:To evaluate the effect of scalp acupuncture combined with repeated transcranial magnetic stimulation (rTMS) on dysphagia after ischemic stroke.Methods:Prospective cohort study. A total of 94 patients with dysphagia after ischemic stroke in our hospital who met the inclusion criteria from December 2020 to February 2022 were randomly divided into two groups with 47 patients in each group. The control group was treated with rTMS and conventional acupuncture, while the scalp acupuncture group was treated with rTMS and scalp acupuncture (scalp acupuncture+seven points at the skull base). Both groups were treated for 4 weeks. Before and after treatment, Traditional Chinese Medicine (TCM) symptoms were scored, and the morphology, movement and food swallowing process of the patient's swallowing anatomy were observed with fiber optic endoscopy (FEES), and assessed by the leakage aspiration scale (PAS). The Yilang Fujishima swallowing efficacy evaluation and standard swallowing assessment (SSA) were used to evaluate swallowing function. The dysphagia quality of life scale (SWAL-QOL) were used to evaluate patients' quality of life. Magnetic resonance diffusion tensor imaging (DTI) scanning was performed to observe the anisotropy fraction (FA value) of the selected region of interest (ROI).Results:During the treatment period, each group dropped off 1 patient, and 92 patients entered the statistics. After treatment, the scores of salivation, food retention, eating and drinking cough in the scalp acupuncture group were significantly lower than those in the control group ( t values were 6.87, 4.90, 5.01, respectively, P<0.01), and the PAS grading was significantly better than that in the control group ( χ2=7.80, P=0.025), the swallowing efficacy evaluation and SWAL-QOL score of Yilang Fujishima were significantly higher than those of the control group ( t=6.81, 5.98, P<0.01), and the SSA score was significantly lower than that of the control group ( t=5.68, P<0.01). The FA values of parieto occipital cortex (0.47 ± 0.06 vs. 0.42 ± 0.04, t=3.16), insular cortex (0.44 ± 0.07 vs. 0.40 ± 0.05, t=3.00) and posterior limb of internal capsule (0.58 ± 0.04 vs. 0.54 ± 0.05, t=2.80) of ROI in the head acupuncture group after treatment were significantly higher than those in the control group ( P<0.05). Conclusion:The scalp acupuncture combined with rTMS can improve the swallowing function of patients with dysphagia after ischemic stroke and improve their quality of life.

The clinical data, diagnose and treatment of a child with familial glucocorticoid deficiency (FGD) caused by the NNT gene mutation who was treated in the Department of Endocrinology, Children′s Hospital Affiliated to Nanjing Medical University in November 2014 were retrospectively analyzed.The female child with 1 year and 5 months old presented with 6 months of skin pigmentation.Laboratory examinations showed decreased cortisol and increased adrenocorticotropic hormone.During the follow-up period, she developed convulsions and precocious puberty.Whole exome sequencing revealed that the patient carried a homozygous mutation c. 1054G > A (p.G352R) in exon 8 of the NNT gene, which was a newly reported gene mutation.Domestic cases of FGD caused by the NNT gene mutation has never been reported yet.Through literature review of a total of 40 reported children with FGD caused by the NNT gene mutation, typical manifestations included skin pigmentation, hypoglycemia and seizures, alongside mineralocorticoid deficiency, precious puberty, abnormal male gonadal development, thyroid diseases and heart diseases.