OBJECTIVE: To investigate the prenatal manifestation and genetic basis for two fetuses suspected for Osteocraniostenosis (OCS). METHODS: Two fetuses undergoing invasive prenatal diagnosis at Cangzhou People's Hospital in April and August 2021 for short long bones and abnormal skull morphology were selected as the study subjects. Clinical data were collected and analyzed. Genomic DNA was extracted from amniotic fluid and peripheral blood samples of the two couples. Candidate variants were validated by Sanger sequencing. Literature was retrieved from CNKI, Wanfang Data Knowledge Service Platform and PubMed using keywords including "FAM111A gene", "gracile bone dysplasia", "FAM111A" and "osteocraniostenosis" from January 1, 2000 to June 30, 2025. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: K2020-049). RESULTS: Fetus 1 was found to have short limbs, abnormal skull morphology and shallow cerebral sulci. Fetus 2 showed short limbs, irregular skull halo, prominent forehead and bilateral frontal narrowing. Trio-WES revealed that fetus 1 has carried a heterozygous missense variant c.1582G>C (p.Asp528His) in exon 4 of the FAM111A gene, which was unreported previously. Fetus 2 has harbored a heterozygous in-frame deletion c.1020_1022delTTC (p.Ser343del) in exon 6 of the FAM111A gene, which has been recorded as likely pathogenic by the ClinVar and HGMD databases. Sanger sequencing confirmed that the parents of both fetuses were wild-type for the variant sites. A total of 9 previously reported patients with FAM111A-related gracile bone dysplasia/OCS from 4 publications were retrieved. The main clinical features included intrauterine growth restriction, hypomineralized skull, gracile long bones with narrow medullary cavities and characteristic facial anomalies, which were in large in keeping with the prenatal features of the two fetuses. CONCLUSION Both fetuses were diagnosed with FAM111A-related OCS based on the characteristic prenatal findings and identification of the FAM111A variants. Above finding expanded the phenotypic spectrum of FAM111A-associated disorders and provided clues for the prenatal diagnosis and genetic counseling.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Phenotype ; Fetus ; Male ; Bone Diseases, Developmental/genetics* ; Adult

OBJECTIVE To establish the fingerprint of Bushen ningshen ointment， determine the contents of its major constituents， and investigate its in vitro antioxidant activity. METHODS High performance liquid chromatography （HPLC） fingerprints of 10 batches of Bushen ningshen ointment were established. Similarity evaluation and identification of common peaks were subsequently performed. The contents of 10 components such as salidroside were determined using the same HPLC method. Using the scavenging rates against 2，2′-azino bis（3-ethylbenzothiazoline-6-sulfonic acid） （ABTS） and 1，1-diphenyl-2- picrylhydrazyl （DPPH） radicals， as well as ferric ion reducing antioxidant power （FRAP） as indicators， the anti-oxidant activity of the ointment was evaluated； grey relational analysis and partial least squares regression were conducted using SIMCA 14.1 software to establish the spectrum-effect relationship. RESULTS The fingerprint chromatogram of 10 batches of Bushen ningshen ointment contained 24 common peaks， with similarity values all exceeding 0.96. Eleven peaks were identified as adenosine （peak 1）， salidroside （peak 4）， morroniside （peak 6）， catechin （peak 7）， paeoniflorin （peak 10）， spinosin （peak 11）， ferulic acid （peak 12）， isoquercitrin （peak 13）， E-mail：wli1743@163.com verbascoside （peak 14）， paeonol （peak 23）， and emodin （peak 24）. Content determination results showed that the average contents of salidroside， morroniside， catechin， paeoniflorin， spinosin， ferulic acid， isoquercitrin， verbascoside， paeonol， and emodin were 0.725， 1.962， 0.214， 3.395， 0.124， 0.107， 0.286， 0.019， 0.034 and 0.067 mg/g， respectively. The antioxidant potency composite index （APC） for the 10 batches ranged from 85.08% to 96.35%. Spectrum-effect relationship analysis indicated that all 24 common peaks were positively correlated with the antioxidant capacity. Seventeen peaks had variable importance in projection values ＞1， specitically peaks 2， 5， 6， 7， 9， 10， 13- 21， 23， and 24. CONCLUSIONS This study successfully established the HPLC fingerprint and content determination method for Bushen ningshen ointment. The compounds represented by the 17 common peaks such as morroniside may be the active components contributing to its antioxidant effects.

Lipidomics is an emerging discipline that systematically studies the various types, functions, and metabolic pathways of lipids within living organisms. This field compares changes in diseases or drug impact, identifying biomarkers and molecular mechanisms present in lipid metabolic networks across different physiological or pathological states. Through employing analytical chemistry within the realm of lipidomics, researchers analyze traditional Chinese medicine (TCM). This analysis aids in uncovering potential mechanisms for treating diverse physiopathological conditions, assessing drug efficacy, understanding mechanisms of action and toxicity, and generating innovative ideas for disease prevention and treatment. This manuscript assesses recent literature, summarizing existing lipidomics technologies and their applications in TCM research. It delineates the efficacy, mechanisms, and toxicity research related to lipidomics in Chinese medicine. Additionally, it explores the utilization of lipidomics in quality control research for Chinese medicine, aiming to expand the application of lipidomics within this field. Ultimately, this initiative seeks to foster the integration of traditional medicine theory with modern science and technology, promoting an organic fusion between the two domains.

Lipidomics is an emerging discipline that systematically studies the various types,functions,and metabolic pathways of lipids within living organisms.This field compares changes in diseases or drug impact,identifying biomarkers and molecular mechanisms present in lipid metabolic networks across different physiological or pathological states.Through employing analytical chemistry within the realm of lipidomics,researchers analyze traditional Chinese medicine(TCM).This analysis aids in uncovering potential mechanisms for treating diverse physiopathological conditions,assessing drug efficacy,un-derstanding mechanisms of action and toxicity,and generating innovative ideas for disease prevention and treatment.This manuscript assesses recent literature,summarizing existing lipidomics technologies and their applications in TCM research.It delineates the efficacy,mechanisms,and toxicity research related to lipidomics in Chinese medicine.Additionally,it explores the utilization of lipidomics in quality control research for Chinese medicine,aiming to expand the application of lipidomics within this field.Ultimately,this initiative seeks to foster the integration of traditional medicine theory with modern science and technology,promoting an organic fusion between the two domains.

OBJECTIVE: To carry out genetic testing on two fetuses with prenatal ultrasound finding of polydactyly and renal abnormalities to determine the underlying causes. METHODS: Two fetuses with structural abnormalities detected by prenatal ultrasound at Cangzhou People's Hospital in 2021 were selected as the study subjects. Genomic DNA was extracted from the muscle tissue of the abortus and peripheral blood samples from both parents. Whole-exome sequencing (WES) was conducted on the trio to detect the genetic variants. Quantitative PCR was used to validate the exonic deletions. This study has been approved by the Ethics Committee of Cangzhou People's Hospital (Ethics No.K2020-049). RESULTS: Prenatal ultrasound revealed postaxial polydactylies of fingers and toes and slightly enlarged kidneys with increased echogenicity in fetus 1, along with polydactyly of both hands, enlarged kidneys, and enhanced echogenicity of renal parenchyma in fetus 2. Trio-WES analysis revealed that fetus 1 has harbored a pathogenic c.1339G>A variant of the BBS1 gene, along with a heterozygous 426 bp deletion in the 11q13.2 region, which was unreported previously. The deletion has involved exons 10 and 11 of the BBS1 gene. The two variants were inherited from its mother and father, respectively. Fetus 2 was found to harbor a pathogenic c.539G>A variant and a likely pathogenic c.49G>A variant of the BBS10 gene, which were inherited from its mother and father, respectively. The c.49G>A variant has not been documented in databases and the literature. CONCLUSION Two rare fetuses with Bardet-Biedl syndrome have been diagnosed. Above finding has expanded the mutational spectrum of this syndrome and has important implications for genetic counseling for the affected families.
Humans ; Bardet-Biedl Syndrome/diagnostic imaging* ; Female ; Pregnancy ; Fetus/abnormalities* ; Ultrasonography, Prenatal ; Phenotype ; Polydactyly/diagnostic imaging* ; Exome Sequencing ; Adult ; Genetic Testing ; Male ; Prenatal Diagnosis ; Group II Chaperonins/genetics* ; Microtubule-Associated Proteins

Morita therapy has been bom for more than 100 years.Inpatient Morita therapy is highly oper-able and easy to master.It can improve many refractory neuroses through four-stage treatment.But more neuroses are treated in outpatient clinics,and Morita therapy cannot be used in hospitalized patients.Therefore,the formula-tion of expert opinions on outpatient operations is particularly important.This paper is based on domestic and for-eign references,and after many discussions by domestic Morita therapy experts,and then drew up the first version of the expert opinions on operation of outpatient Morita therapy.Meanwhile the operation rule of Morita therapy in three stages of outpatient treatment was formulated:in the etiological analysis stage,under the theoretical guidance of Morita therapy,analyze the pathogenic factors,to improve treatment compliance and reduce resistance;during the operating stage,guide patients to engage in constructive and meaningful actions,realizing the achievement of letting nature take its course principle;in the cultivating character and enriching life stage,pay attention to positive infor-mation,expanding the scope and content of actions,improving the ability to adapt to complex life,and preventing recurrence caused by insufficient abilities.It will lay a foundation for the promotion of Morita therapy in domestic outpatient clinics,so that more patients with neurosis and other psychological diseases could receive characteristic Morita therapy treatment in outpatient clinics.

Pyran- and furanocoumarins are key representatives of tetrahydropyrans and tetrahydrofurans, respectively, exhibiting diverse physiological and medical bioactivities. However, the biosynthetic mechanisms for their core structures remain poorly understood. Here we combined multiomics analyses of biosynthetic enzymes in Peucedanum praeruptorum and in vitro functional verification and identified two types of key enzymes critical for pyran and furan ring biosynthesis in plants. These included three distinct P. praeruptorum prenyltransferases (PpPT1-3) responsible for the prenylation of the simple coumarin skeleton 7 into linear or angular precursors, and two novel CYP450 cyclases (PpDC and PpOC) crucial for the cyclization of the linear/angular precursors into either tetrahydropyran or tetrahydrofuran scaffolds. Biochemical analyses of cyclases indicated that acid/base-assisted epoxide ring opening contributed to the enzyme-catalyzed tetrahydropyran and tetrahydrofuran ring refactoring. The possible acid/base-assisted catalytic mechanisms of the identified cyclases were theoretically investigated and assessed using site-specific mutagenesis. We identified two possible acidic amino acids Glu303 in PpDC and Asp301 in PpOC as vital in the catalytic process. This study provides new enzymatic tools in the epoxide formation/epoxide-opening mediated cascade reaction and exemplifies how plants become chemically diverse in terms of enzyme function and catalytic process.

Objective:To study the variational trend in disease characteristics of patients with hepatitis B-related primary liver cancer (HBV-HCC) in the past five years.Method:A single-center retrospective cross-sectional analysis was performed to compare patients diagnosed with HBV-HCC from January 2012 to December 2016 (control group) and from January 2017 to December 2021 (observation group). The data of the study variables were extracted from the electronic medical record system of the hospital information system of the Second Hospital of Lanzhou University. The 1:2 propensity score matching was used to adjust potential confounding factors such as gender and age. Multivariate logistic regression analysis was used to study the factors affecting changes in disease characteristics of the HBV-HCC population in the observation group. GraphPad Prism 8.0 software was used to draw forest plots to intuitively display the effect size of the study variables in the logistic regression analysis.The t-test was used to compare normally distributed data between groups. The χ2 test was used for inter-group comparison. Results:A total of 1 717 eligible cases were collected, including 510 in the control group and 1 207 in the observation group. Compared with the control group, the number of newly diagnosed cases in the observation group increased by 2.36 times, and males were still the main onset population (83.3% vs. 82.7%). The median age of onset increased (51.9 vs. 53.5 years, P<0.001). 79.4% of HBV-HCC patients had not received antiviral therapy, and the proportion of HBeAg-negative patients increased (56.4%). The factors affecting HBV-HCC patients included family history of HBV ( OR=1.626, 95% CI: 1.181-2.238), family history of hepatocellular carcinoma ( OR=1.388, 95% CI: 1.013-1.901), hypoviremia ( OR=1.322, 95% CI: 1.046-1.671), abnormal alanine aminotransferase ( OR=1.545, 95% CI: 1.231-1.940), liver fibrosis ( OR=1.478, 95% CI: 1.153-1.894), liver cirrhosis ( OR=1.431, 95% CI: 1.128-1.815), and metabolic-related fatty liver disease ( OR=1.438, 95% CI: 1.116-1.815) after propensity score matching adjustment. The factors affecting HBeAg-positive patients were decreased ( OR=0.390, 95% CI: 0.389-0.617); however, the number of early HBV-HCC diagnoses was increased (12.7% vs. 19.3%, P=0.001). Conclusion:The characteristics of patient disease and occurrence of HBV-HCC are changing over the past five years. The risk of developing hepatocellular carcinoma in middle- to older male patients with chronic hepatitis B is increasing with familial history of HBV and hepatocellular carcinoma, HBeAg negativity, hypoviremia, abnormal alanine aminotransferase, liver fibrosis, cirrhosis, and metabolic-related fatty liver disease.

As a type of extracellular vesicles, exosomes are released by living cells and contain diverse bioactive molecules, including nucleic acids, proteins, lipids and metabolites. They play an important role in various physiological and pathological processes by a special intercellular communication medium. As endogenous vesicles, exosomes also have the advantages of systemic circulation stability, good biocompatibility and specific targeting of tissues and cells, as well as they are promising candidates for drug delivery system. The production mechanism of exosomes describe was summarized, the methods of extraction and separation the application and mechanism of exosomes in immune and inflammation-related diseases, cardiovascular system diseases, nervous system diseases, tumors, etc. were reviewed. The engineering modifications of exosomes in high targeting properties based on the drug delivery were overviewed. Exosomes support the diagnosis and prognostic assessment of multiple diseases, which have broad application prospects as a very potential safe and specific endogenous nano-drug carrier.

In order to study the involatile chemical components in Moutai-flavored distiller’s grains, the Moutai-flavored distiller’s grains were extracted with 75% ethanol, followed by extraction with petroleum ether, ethyl acetate, and n-butanol. Silica gel, ODS, sephadex LH-20, and preparative HPLC were used to separate and identify the petroleum ether and ethyl acetate layers.ESI-MS and NMR were used to identify the compounds, which were respectively identified as pentadecanoic acid (1), palmitic acid (2), trans-2-decenoic acid (3), n-nonyl octadecanoate (4), ethyl octadecanoate (5), ethyl linoleate (6), luric acid (7), 1, 3-dicaprylyl-2-linoleylglycerin (8), cyclic (phenylalanine-proline) (9), cyclo-(proline-leucine) (10), 3, 6-bis-(2-methylpropyl)-2,5-dione piperazine (11), 4-hydroxyphenethyl alcohol (12), 2,4-dihydroxybenzoic acid (13), stigmasterol (14), 2-furancarboxylic acid (15), valine (16), L-alanine acyl-L-proline (17), dihydroquercetin (18), 5, 7, 3'', 4''-tetrahydroxyflavonoids (19), quercetin (20), and naringenin (21). Compounds 1-21 were isolated from distiller’s grains for the first time.