Functional dyspepsia （FD） is a prioritized disease category where traditional Chinese medicine （TCM） demonstrates distinct therapeutic advantages. The current western medicine treatment for FD is mainly based on proton pump inhibitors and prokinetic agents， with digestive enzymes， probiotics and antidepressants serving as adjuvant medication， yet such therapies still have certain limitations. TCM treatment for FD includes oral administration of Chinese herbal formulas and Chinese patent medicines， as well as external TCM therapies such as acupuncture and moxibustion， acupoint application， hot medicinal compress therapy， rubbing with ointment， medicinal iontophoresis， auricular acupoint therapy and tui na （Chinese medical massage）. The combined treatment of FD with integrated TCM and western medicine can significantly improve clinical effectiveness and reduce adverse reactions. The common mechanisms underlying the therapeutic effects of both TCM and western medicine revolve around the core pathological processes of FD， mainly focusing on restoring gastrointestinal motility， regulating the levels of brain-gut peptides， modulating intestinal microecology， and ameliorating inflammatory status. The differential mechanisms lie in the precise targeting feature of western medicine versus the holistic-regulating and multi-target characteristics of TCM， and the two approaches exert a synergistic effect to enhance efficacy. This paper proposes to leverage the advantages of TCM in holistic regulation and the strengths of western medicine in targeted treatment， so as to provide personalized and comprehensive treatment regimens for FD patients.

OBJECTIVE To construct a whole-process management system for the smart pharmacy based on the integration of drug batch numbers and traceability codes， aiming to solve the problems of low upload rates and traceability difficulties of drug traceability codes in the central pharmacy， and to enhance its level of refined management and medication safety. METHODS Following the FOCUS-PDCA framework（find，organize，clarify，understand，select-plan，do，check，act）， a drug batch number and traceability code management system was established by optimizing batch number management processes， introducing “pre-scan registration” technology， and establishing a dynamic “code pool” mechanism. Based on medical insurance upload data and operational performance indicators in our hospital from June to August 2025， the differences in management efficacy before and after the implementation of the system were compared and analyzed. RESULTS The drug batch number and traceability code management system was successfully established， achieving “one-object， one-code” whole-process association with batch numbers for inpatient drugs， especially split drugs. After the application of this system， the upload rate of inpatient drug traceability codes reached 100%， significantly higher than the average upload rate of inpatient drugs in other tertiary hospitals in our city （with the highest rate being only 23.22%， P ＜0.001）. The inventory stocktaking error rate dropped from 0.9% to 0.3% （a decrease of 66.7%）； the number of daily dispensing errors decreased from 1.43 to 0.37； the dispensing time （14.75 min） for temporary medical orders recovered to the routine level （14.42 min） prior to the system implementation. CONCLUSIONS By adopting the “pre-scan registration-code pool management-closed-loop traceability” model， this system enables traceability for individual drug products in their smallest packaging units， improves the upload rate of traceability codes， significantly reduces the medication dispensing error rate， and does not increase the time cost for temporary medical order dispensing， thereby balancing efficiency with closed-loop traceability.

Objective : To investigate the role and related mechanisms of IgD on the viability , proliferation , apoptosis , and other functions of Molm_13 cells. Methods: Peripheral blood serum was collected from AML patients and healthy controls. The sIgD levels were quantified by ELISA. For in vitro studies , Molm_13 cells were treated with varying concentrations of IgD. Cell viability and proliferation were assessed via CCK_8 assays , CFSE staining , and colony formation assays. Apoptosis rates were determined using an Annexin V/PI apoptosis detection kit. Preliminary exploration of the mechanisms related to IgD_induced proliferation of Molm_13 were analyzed through differential gene analysis. Results: Compared with healthy controls , the levels of sIgD in AML patients were significantly el_ evated (P < 0. 001 ) . IgD treatment dose_dependently increased Molm_13 cell viability and proliferation ( P < 0. 05) , inhibited apoptosis rates (P < 0. 001) . Conclusion IgD promotes the viability and proliferation of Molm_ 13 cells , and reduces apoptosis.

OBJECTIVE: To determine the prevalence of GJB2 gene c.109G>A (p.V37I) variant among infants with congenital hearing loss and analyze the initial audiological characteristics of children harboring the variant, compare the audiometric difference among individuals with various genotypes, and explore genetic and audiological manifestations of the affected families. METHODS: One hundred twenty six infants diagnosed with congenital hearing loss at the Neonate Screening Center of Ningbo City from June 2021 to December 2024 were selected as the study subjects. The neonates, in addition with members from 16 of their families, had undergone genetic screening for variants of 208 hotspot sites within 24 deafness-associated genes. For cases identified with monoallelic variants and concurrent hearing loss, the full GJB2 gene was sequenced. Meanwhile, a retrospective analysis was carried out on 23 children whom were confirmed to have hearing loss and the c.109G>A variant by whole exome sequencing from March 2022 to December 2024. And 102 children who were excluded to have hearing loss and pathogenic variants by whole exome sequencing were selected as normal controls. Audiological features of individuals harboring the c.109G>A variant were compared. This study has been approved by the Medical Ethics Committee of The Affiliated Women and Children's Hospital of Ningbo University (Ethics No.: EC2023-009). RESULTS: For the 126 infants with congenital hearing loss, prospective screening has identified 58 (46.03%) to harbor the c.109G>A variant. These included 38 homozygotes and 16 compound heterozygotes. Retrospective review of the 23 c.109G>A positive children has identified 15 as homozygotes and 8 as compound heterozygotes. Genetic testing of the 16 pedigrees has identified 7 homozygotes and 1 compound heterozygote. For the homozygotes combined (n = 53), 96.2% exhibited bilateral symmetric hearing loss, with 78.3% showing high-frequency sloping patterns, and 98.1% having a hearing threshold ranging from 20 to 65 dB. For the compound heterozygotes combined (n = 24), 95.8% showed symmetric loss, with 59.4% having high-frequency sloping, and 97.9% had a hearing threshold ranging from 20 to 65 dB. Both groups showed significantly elevated ABR/PTA thresholds compared with the normal controls (P = 0.000). The compound heterozygous group had higher ABR thresholds (43.3 ± 15.0 dB nHL) compared with the homozygous group (39.1 ± 12.0 dB nHL, P = 0.005). CONCLUSION Infants harboring the GJB2 c.109G>A variant primarily manifest as mild-to-moderate, symmetric, high-frequency sloping hearing loss. Nearly one-third of affected children have thresholds between 20 to 35 dB nHL, suggesting that ABR > 35 dB nHL alone may underestimate the hearing impairment in this population. Compared with homozygotes, compound heterozygotes with the the GJB2 c.109G>A variant can confer a more severe hearing loss.
Humans ; Connexin 26/genetics* ; Female ; Male ; Infant, Newborn ; Infant ; Hearing Loss/genetics* ; Retrospective Studies ; Child, Preschool ; Child ; Genotype ; Connexins/genetics* ; Mutation

Objective:To explore the clinical characteristics and genetic etiology of four children with Phelan-McDermid syndrome (PMS).Methods:Four children who had visited the Affiliated Women and Children′s Hospital of Ningbo University between June 2, 2022 and May 8, 2023 were selected as the study subjects. Clinical data of the children were collected. Genomic DNA was extracted from peripheral blood samples of the children and their parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and quantitative PCR (q-PCR) analysis. This study was approved by the Medical Ethics Committee of the Affiliated Women and Children′s Hospital of Ningbo University (Ethics No. EC2020-048).Results:All children had presented with speech and language delays and intellectual disability. Children 3 and 4 also presented with autistic behaviors. WES showed that the children 1 and 2 had respectively carried a heterozygous c.731T>C (p.Leu244Pro) and a c.2782_2851del (p.Gly928ArgfsTer4) variant of the SHANK3 gene. Sanger sequencing confirmed that their parents did not carry the same variant, suggesting that they were de novo in origin. Children 3 and 4 had respectively harbored a 121 kb and 52.02 kb heterozygous deletion at chromosome 22q13.33, which had both encompassed the SHANK3 and ACR genes mapped to 22q13.33. q-PCR results showed that the deletion of SHANK3 and ACR genes were de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 731T>C and c. 2782_2851del variants were predicted to be likely pathogenic (PS2+ PM2_Supporting+ PP3) and pathogenic (PVS1+ PM2_Supporting+ PS2_Supporting), respectively. Furthermore, the 52.02 kb and 121 kb heterozygous deletions in 22q13.33 were both predicted to be pathogenic (2D+ 4C, 1.05 in score; 2D+ 4C, 1 in score). Conclusion:The four children were all diagnosed with PMS by genetic testing. Above finding has enriched the phenotypic and mutational spectrum of PMS, and provided a basis for clinical diagnosis and genetic counseling for their families.

Objective:To evaluate the clinical value of four dimensional ultrasound combined with pelvic floor surface electromyography in the assessment of bladder prolapse in primipara with different delivery modes.Methods:A total of 413 primipara 6-8 weeks after full-term delivery were selected from the obstetrics clinic of the Second Affiliated Hospital of Hainan Medical College from October 2021 to September 2023. They were divided into natural delivery group(349 cases) and cesarean section group(64 cases ). The characteristics of 4D pelvic floor ultrasound in the two groups were analyzed and summarized. Then 64 cases of primipara with pelvic floor surface electromyography were divided into bladder prolapse group (46 cases) and no bladder prolapse group(18 cases). The characteristics of four dimension ultrasound combined with pelvic floor surface electromyography in the two groups were analyzed, and the related risk factors of bladder prolapse were analyzed.Results:The bladder neck mobility and urethral rotation angle in the natural delivery group were higher than those in the cesarean section group (all P<0.05). Compared with the cesarean section group, the incidence of obvious prolapse and urethral infundibulation was higher in the natural delivery group, while the incidence of mild prolapse was lower than that in the cesarean section group (all P<0.05). Bladder neck mobility, urethral rotation angle and levator ani hiatal area in the prolapsed bladder group were higher than those in the non-prolapsed bladder group (all P<0.05). The maximum value of fast muscle stage and the mean value of slow muscle stage in the group with prolapse were lower than those in the group without prolapse (both P<0.05). Univariate Logistic regression analysis found that the risk factors for bladder prolapse were increased birth weight, natural delivery, increased bladder neck mobility, posterior bladder angle was opened, increased urethral rotation angle, increased levator ani hiatal area, decreased maximum value of fast muscle stage and decreased mean value of slow muscle stage. Multivariate Logistic regression analysis showed that increased ani hiatal area ( OR=2.216, P=0.015) and decreased maximum value of tater muscle stage ( OR=0.847, P=0.035) were risk factors for bladder prolapse. Conclusions:Pelvic floor ultrasound combine with pelvic floor surface electromyography can qualitatively and quantitatively evaluate the changes of pelvic floor muscle structure and function in postpartum women, and diagnose bladder prolapse and its degree. The increase of levator ani hiatal area and the decrease of maximum value of tater stage may be the risk factors for bladder prolapse at 6-8 weeks postpartum in primiparas.

Objective The identification of Santali Albi Lignum and its common counterfeits Osyris lanceolata Lignum,Santalum spicatum Lignum was studied to provide experimental basis for the authenticity of this medicinal herb.Methods The identification was carried out using morphological,microscopic,and thin-layer identification methods.The volatile oil of Santali Albi Lignum and its counterfeits were extracted by steam distillation and the volatile oil components were analyzed by gas chromatography-mass spectrometry(GC-MS).The differences of volatile oil components among the three were compared.Results Santali Albi Lignum and its common counterfeits all possessed a sandalwood aroma,but Santali Albi Lignum has abundant oiliness and strong aroma.Osyris lanceolata Lignum aroma exhibits slightly strong odor and slightly camphor flavor,and the smell of Santalum spicatum Lignum is sweet and fragrant.Santali Albi Lignum is greyish-yellow to yellowish-brown in color,while Osyris lanceolata Lignum is generally reddish brown in color,Santalum spicatum Lignum is light yellow to light yellowish-brown,but its surface shows reddish-brown when exposed to air for a long time.In the transection section,the ray width of Santali Albi Lignum is more than 1-2 rows of cells,with occasional 3 rows of cells.The ray width of Osyris lanceolata Lignum is 1-3 rows of cells,while the ray width of Santalum spicatum Lignum is 1-2 rows of cells,mostly uniseriate.In the tangential section,the wood ray of Santali Albi Lignum has a height of 5-15 cells,the wood ray of Osyris lanceolata Lignum has a height of 4-10 cells,while the wood ray of Santalum spicatum Lignum has a height of 4-16 cells.In the radial section,fewer calcium oxalate crystal was found in Santali Albi Lignum,more calcium oxalate crystal was appeared in Osyris lanceolata Lignum,more and larger calcium oxalate crystal was identified in Santalum spicatum Lignum.Genuine and fake sandalwood can be distinguished using sandalwood oil as the thin-layer chromatographic reference.And the volatile oil content of fake Osyris lanceolata Lignum and Santalum spicatum Lignum is lower than that of Santali Albi Lignum.The main components of Santali Albi Lignum are α-santalol and β-santalol.The low content of santalol has been found in Osyris lanceolata Lignum,while α-santalol is extremely low in Santalum spicatum Lignum oil and β-santalol has not been found.Conclusion There are small differences among Santali Albi Lignum and its adulterants in characteristics,microscopical characteristics.But the differences have been found in three-way cross section,thin layer chromatography,volatile oil content and composition characteristics,which can be used for identification of Santali Albi Lignum and its counterfeits.

OBJECTIVE: To explore the clinical characteristics and genetic etiology for two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (MEDHSIL). METHODS: Two children who had visited the Ningbo Women and Children's Hospital on October 15, 2021 were selected as the study subjects. Whole exome sequencing (WES) was carried out for both patients. Candidate variants were verified by Sanger sequencing of their family members. RESULTS: The two children were respectively found to harbor a heterozygous c.138delC (p.Ile47Serfs*42) variant and a c.833del (p.L278*) variant of the MEF2C gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION The c.138delC and c.833del variants of the MEF2C gene probably underlay the pathogenesis of MEDHSIL in the two children. Above findings have enriched the mutational spectrum of the MEF2C gene and enabled genetic counseling for their families.
Child ; Humans ; Family ; Genetic Counseling ; Language ; MEF2 Transcription Factors/genetics* ; Muscle Hypotonia/genetics* ; Neurodevelopmental Disorders

OBJECTIVE: To explore the types of NF1 gene variants and clinical characteristics among patients with Neurofibromatosis type I (NF1). METHODS: Clinical data of 12 patients diagnosed at Ningbo Women and Children's Hospital between December 2019 and May 2022 were retrospectively analyzed. The probands and their family members were subjected to high-throughput sequencing, and candidate variants were verified by Sanger sequencing and chromosome microarray analysis. RESULTS: The 12 patients had ranged from 4 months to 27 years old, with a male-to-female ratio of 2 : 1. Cafè-au-lait spots were found in all patients. 83.3% of them also had axillary and/or inguinal freckling, 58.3% had neurofibromas, and 16.7% had congenital pseudarthrosis of the tibia. Five types of NF1 gene variants were identified in the patients, including 5 nonsense variants, 4 frameshift variants, 1 missense variant, 1 splice variant, 1 large deletion involving the whole gene. Six patients were found to harbor de novo variants, 2 had inherited the variants from their parents, and 4 were not verified for their parental origin. The c.3379del (p.Thr1127Glnfs*15) and c.6628_6629del (p.Glu2210Thrfs*10) variants were unreported in literature and databases. CONCLUSION Most NF1 patients may present with Cafè-au-lait spots initially and are due to pathogenic variant of the NF1 gene. High-throughput sequencing can efficiently identify such variants among the patients and enable the definite diagnosis.
Child ; Humans ; Female ; Male ; Neurofibromatosis 1/diagnosis* ; Cafe-au-Lait Spots/diagnosis* ; Genes, Neurofibromatosis 1 ; Retrospective Studies ; Frameshift Mutation

Objective:To evaluate the efficacy and safety of oral anisodine hydrobromide tablets in the treatment of nonarteritic anterior ischemic optic neuropathy (NAION).Methods:A multicenter nonrandomized controlled trial was conducted.A total of 282 acute NAION patients (282 eyes) were recruited from 16 hospitals in China from July 2020 to May 2021.Patients were divided into two groups according to treatment methods, which were control group (124 cases, 124 eyes) receiving regular treatment including citicoline sodium plus Ginkgo biloba leaf liquid extract or Ginkgo biloba leaf extract tablets plus mecobalamin, and experimental group (158 cases, 158 eyes) receiving treatment in control group plus oral anisodine hydrobromide tablets 1 mg, twice daily for 2 to 3 months.Best corrected visual acuity (BCVA), visual field index (VFI), peripapillary retinal nerve fiber layer (pRNFL) and radial peripapillary capillary vessel density (RPC) were assessed at 1, 2, 3, and 6 months after enrollment using the standard decimal visual acuity chart, 750i Humphery visual field analyzer, Cirrus HD-OCT 4000/Cirrus HD-OCT 5000, RTVue-XR optical coherence tomography respectively.The primary outcomes were BCVA and VFI, and the secondary outcomes were pRNFL, RPC, and the side effects during the follow-up.The study adhered to the Declaration of Helsinki.All patients were fully informed about the treatment and purpose of this study and voluntarily signed the informed consent form.The study protocol was approved by Chinese PLA General Hospital (No.S2020-021-01). Results:In all, 242 patients (242 eyes) completed the follow-up of BCVA, and 98 patients (98 eyes) completed the VFI follow-up.In terms of visual function, BCVA and VFI improved significantly over time in the two groups, and BCVA and VFI were better in experimental group than in control group at various follow-up time points (all at P<0.05). In terms of structure, pRNFL gradually decreased in both groups with the extension of treatment, and pRNFL was significanthy thinner in experimental group than in control group at various follow-up time points (all at P<0.05). There was no significant difference in RPC between the two groups at the last follow-up ( P>0.05). There were two cases with side effects and one case was discontinued due to side effects 25 days after enrollment. Conclusions:Oral anisodine hydrobromide can improve visual acuity and visual field in NAION and accelerate the regression of optic disc edema, with good safety.