OBJECTIVE: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. METHODS: Amniotic fluid sample was taken from a pregnant woman for whom non-invasive prenatal screening indicated chromosome 22 abnormalities in the fetus. Peripheral blood samples from the woman, her brother and parents were collected for high-throughput low-depth whole genome sequencing (CNV-seq). A pedigree traceability analysis of the results was conducted in conjunction with analysis of clinical manifestation. Relevant literature (from establishment to March 2025) was systematically searched. This study was approved by the Medical Ethics Committee of Mianyang Maternal and Child Health Care Hospital (Ethics No.: Lun Shen [2024]009). RESULTS: CNV-seq revealed that the fetus had harbored a 6.02 Mb duplication at 22q11.21q11.23. Karyotyping confirmed it as 46,X?dup(22)(q11.2). Pedigree verification demonstrated that the pregnant woman, her brother and mother had all carried the same duplication. Phenotypic analysis of the affected family members showed classic features of 22q11.2 microduplication syndrome, including hypernasal speech, low nasal bridge, congenital heart disease, and cognitive impairment. A total of 44 cases with full information (including three patients from this pedigree) were included in the analysis. The penetrance of 22q11.2 duplication was approximately 29.5% (13/44), and 52.3% (23/44) of the cases had inherited the variant from a phenotypically normal parent. CONCLUSION This study has identified the genetic basis for the woman's recurrent adverse pregnancies and phenotypic abnormalities in her family members. The scoliosis identified in her younger brother has not been previously reported, thereby may enrich the clinical phenotype of this syndrome. For fetuses identified with a 22q11.2 microduplication, detailed fetal imaging is recommended, and genetic counseling should be provided to the couples.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Duplication/genetics* ; Male ; Pedigree ; DiGeorge Syndrome/diagnosis* ; Adult ; Chromosomes, Human, Pair 22/genetics* ; Abnormalities, Multiple

Background/Aims: Data from Asia regarding the short-term and long-term outcomes for acute severe ulcerative colitis (ASUC) are limited. We assessed the outcomes of ASUC, identified the risk factors for colectomy, and compared colectomy rates between the pre-biologics and post-biologics eras in Taiwan. Methods: The patients with an ASUC diagnosis between January 2013 and March 2022 at 5 tertiary medical centers were retrospectively analyzed. Results: In total, 98 patients were enrolled, with 68.4% diagnosed in the post-biologics era. In 78.6% of the ASUC patients initially received intravenous steroid therapy, for which the success rate was 74.1%. As for rescue therapy, 15 patients (93.8%) received biologics and 1 (6.3%) received cyclosporin. Biologics rescue therapy had a 93.3% success rate. One (1%) mortality due to septic shock occurred. The colectomy rate for index ASUC admission was 11.2%. Patients receiving colectomy were predominantly male (P= 0.012) and at older age (P= 0.016). Higher C-reactive protein (P= 0.035), lower albumin (P= 0.017), and hemoglobin (P= 0.023) levels were associated with colectomy risk. During a median follow-up of 24 months, 13 patients (15.1%) had recurrent ASUC and 23.1% of patients received colectomy. The accumulated colectomy rate at 3 years did not differ between the pre- and post-biologics eras (16.1% vs. 13.4%, P= 0.270). Conclusions This is the first Asian study on ASUC to compare colectomy rates between the prebiologics and post-biologics eras, revealing no significant difference. The recurrent ASUC had a higher colectomy rate than the index ASUC.

This paper summarizes the clinical experience of professor ZHANG Zhiwen in differentiating and treating chronic obstructive pulmonary disease （COPD） at stages， with the method of diffusing and clearing to unblock the channel pathways， while warming and subduing to restore the original qi. Professor ZHANG posits that the core pathogenesis of this disease lies in depletion of original qi， leading to impaired qi transformation of sanjiao （三焦）， and obstruction of channel pathways. Accordingly， a staged differentiation and treatment strategy based on the methods of diffusing and clearing to unblock the channel pathways， while warming and subduing to restore the original qi has been proposed. COPD was divided into the acute exacerbation stage and the stable stage. In acute exacerbation stage， priority is given to diffusing lung and clearing up turbidity， scatter and dredge the channel passages， using the self-formulated Xuandi Tongsui Formula （宣涤通隧方）. During the stable stage， the treatment should focus on simultaneously regulating sanjiao， warming and subduing yang to restore the original qi， using the self-formulated Wenqian Guiyuan Formula （温潜归元方）. In addition， the principles of carefully protecting mild yang， avoiding excessive astringent medicinals， and restoring respiration to its root are emphasized throughout the entire course of disease prevention， treatment， and rehabilitation.

ObjectiveTo evaluate the safety and efficacy of oxycodone versus sufentanil for postoperative analgesia in patients with moderate to severe obstructive sleep apnea （OSA） undergoing uvulopalatopharyngoplasty （UPPP）. MethodsWe enrolled 73 consecutive patients with moderate-to-severe OSA （confirmed by polysomnography） scheduled for elective UPPP under general anesthesia at our institution between August 2023 and August 2025. Patients were randomly assigned to receive oxycodone （n = 37） or sufentanil （n = 36） using a random number table . The sufentanil group received 1.5 μg per kilogram of body weight， and the oxycodone group received 0.9 mg per kilogram； both groups used patient-controlled intravenous analgesia （PCIA） pumps with a total volume of 100 mL. A 2 mL loading dose was administered 10 minutes before the end of surgery， followed by a background infusion of 2 mL per hour， 2 mL bolus doses on demand， an 8-minute lockout interval， and a maximum hourly volume of 10 mL. We assessed pain scores （Numerical Rating Scale） at rest and during swallowing， Ramsay sedation scores， morphine-equivalent opioid consumption， PCIA bolus demands， patient satisfaction， time to first oral intake， and adverse events （including respiratory depression， nausea， and vomiting） at 4， 12， 24， and 48 hours postoperatively. ResultsBaseline characteristics were well balanced between the two groups （all P＞0.05）. No significant between-group differences were observed in resting and swallowing NRS scores or Ramsay sedation scores at each postoperative time point， PCIA satisfaction， time to first oral intake， or adverse event incidence across all postoperative time points （all P＞0.05）. Morphine-equivalent opioid consumption was significantly lower in the oxycodone group at all time points， as were unsuccessful PCIA bolus demands at 24 and 48 hours postoperatively （both P＜0.05）. ConclusionsLow-dose oxycodone provided analgesic efficacy similar to that of sufentanil for PCIA after UPPP in patients with moderate-to-severe OSA， with no significant between-group differences in adverse events， time to first oral intake， or satisfaction .The oxycodone group had numerically lower adverse event rates and a shorter time to first oral intake， suggesting a favorable safety profile and potential benefits for reducing opioid-related events and facilitating earlier recovery in this patient population.

ObjectiveTo evaluate the safety and efficacy of oxycodone versus sufentanil for postoperative analgesia in patients with moderate to severe obstructive sleep apnea （OSA） undergoing uvulopalatopharyngoplasty （UPPP）. MethodsWe enrolled 73 consecutive patients with moderate-to-severe OSA （confirmed by polysomnography） scheduled for elective UPPP under general anesthesia at our institution between August 2023 and August 2025. Patients were randomly assigned to receive oxycodone （n = 37） or sufentanil （n = 36） using a random number table . The sufentanil group received 1.5 μg per kilogram of body weight， and the oxycodone group received 0.9 mg per kilogram； both groups used patient-controlled intravenous analgesia （PCIA） pumps with a total volume of 100 mL. A 2 mL loading dose was administered 10 minutes before the end of surgery， followed by a background infusion of 2 mL per hour， 2 mL bolus doses on demand， an 8-minute lockout interval， and a maximum hourly volume of 10 mL. We assessed pain scores （Numerical Rating Scale） at rest and during swallowing， Ramsay sedation scores， morphine-equivalent opioid consumption， PCIA bolus demands， patient satisfaction， time to first oral intake， and adverse events （including respiratory depression， nausea， and vomiting） at 4， 12， 24， and 48 hours postoperatively. ResultsBaseline characteristics were well balanced between the two groups （all P＞0.05）. No significant between-group differences were observed in resting and swallowing NRS scores or Ramsay sedation scores at each postoperative time point， PCIA satisfaction， time to first oral intake， or adverse event incidence across all postoperative time points （all P＞0.05）. Morphine-equivalent opioid consumption was significantly lower in the oxycodone group at all time points， as were unsuccessful PCIA bolus demands at 24 and 48 hours postoperatively （both P＜0.05）. ConclusionsLow-dose oxycodone provided analgesic efficacy similar to that of sufentanil for PCIA after UPPP in patients with moderate-to-severe OSA， with no significant between-group differences in adverse events， time to first oral intake， or satisfaction .The oxycodone group had numerically lower adverse event rates and a shorter time to first oral intake， suggesting a favorable safety profile and potential benefits for reducing opioid-related events and facilitating earlier recovery in this patient population.

AIM: To investigate the differences in ocular parameters among patients with varying degrees of myopia, analyze the correlation between tessellated fundus(FT)severity and ocular biometric parameters as well as fundus lesions, and evaluate the clinical value of peripheral retinal lesions, FT, and ultra-wide-field imaging(UWFI)in the risk assessment of myopic fundus lesions.METHODS: Patients with ametropia who were admitted to the Department of Ophthalmology, Liuzhou Red Cross Hospital from June 2022 to June 2025 were retrospectively collected.The participants were divided into four groups according to different spherical equivalent(SE): emmetropia and mild myopia group(-3.0 D

ObjectiveTo observe the clinical efficacy and safety of Tangning Tongluo tablets in the treatment of nonproliferative diabetic retinopathy （DR）. MethodsFourteen research centers participated in this study， which spanned a time interval from September 2021 to May 2023. A total of 240 patients with nonproliferative DR were included and randomly assigned into an observation group （120 cases） and a control group （120 cases）. The observation group was treated with Tangning Tongluo tablets， and the control group with calcium dobesilate capsules. Both groups were treated for 24 consecutive weeks. The vision， DR progression rate， retinal microhemangioma， hemorrhage area， exudation area， glycosylated hemoglobin （HbA1c） level， and TCM syndrome score were assessed before and after treatment， and the safety was observed. ResultsThe vision changed in both groups after treatment （P<0.05）， and the observation group showed higher best corrected visual acuity （BCVA） than the control group （P<0.05）. The DR progression was slow with similar rates in the two groups. The fundus hemorrhage area and exudation area did not change significantly after treatment in both groups， while the observation group outperformed the control group in reducing the fundus hemorrhage area and exudation area. There was no significant difference in the number of microhemangiomas between the two groups before treatment. After treatment， the number of microhemangiomas decreased in both the observation group （Z=-1.437， P<0.05） and the control group （Z=-2.238， P<0.05）， and it showed no significant difference between the two groups. As the treatment time prolonged， the number of microhemangiomas gradually decreased in both groups. There was no significant difference in the HbA1c level between the two groups before treatment. After treatment， the decline in the HbA1c level showed no significant difference between the two groups. The TCM syndrome score did not have a statistically significant difference between the two groups before treatment. After treatment， neither the TCM syndrome score nor the response rate had significant difference between the two groups. With the extension of the treatment time， both groups showed amelioration of TCM syndrome compared with the baseline. ConclusionTangning Tongluo tablets are safe and effective in the treatment of nonproliferative DR， being capable of improving vision and reducing hemorrhage and exudation in the fundus.

In this experiment, self-assembled nanoparticles(SANs) were prepared by the pH-driven method, and Her-HCP SAN was constructed by using herpetrione(Her) and Herpetospermum caudigerum polysaccharides(HCPs). The average particle size and polydispersity index(PDI) were used as evaluation indexes for process optimization, and the quality of the final formulation was evaluated in terms of particle size, PDI, Zeta potential, and microstructure. The proposed Her-HCP SAN showed a spheroid structure and uniform morphology, with an average particle size of(244.58±16.84) nm, a PDI of 0.147 1±0.014 8, and a Zeta potential of(-38.52±2.11) mV. Her-HCP SAN significantly increased the saturation solubility of Her by 2.69 times, with a cumulative release of 90.18% within eight hours. The results of in vivo unidirectional intestinal perfusion reveal that Her active pharmaceutical ingredient(API) is most effectively absorbed in the jejunum, where both K_a and P_(app) are significantly higher compared to the ileum(P<0.001). However, the addition of HCP leads to a significant reduction in the P_(app) of Her in the jejunum(P<0.05). Furthermore, the formation of the Her-HCP SAN results in a notably lower P_(app) in the jejunum compared to Her API alone(P<0.001), while both K_a and P_(app) in the ileum are significantly increased(P<0.001, P<0.05). The absorption of Her-HCP SAN at different concentrations in the ileum shows no significant differences, and the pH has no significant effect on the absorption of Her-HCP SAN in the ileum. The addition of the transporter protein inhibitors(indomethacin and rifampicin) significantly increases the absorption parameters K_a and P_(app) of Her-HCP SAN in the ileum(P<0.05,P<0.01), whereas the addition of verapamil has no significant effect on the intestinal absorption parameters of Her-HCP SAN, suggesting that Her may be a substrate for multidrug resistance-associated protein 2 and breast cancer resistance proteins but not a substrate of P-glycoprotein.
Nanoparticles/metabolism* ; Polysaccharides/pharmacokinetics* ; Intestinal Absorption/drug effects* ; Animals ; Rats ; Particle Size ; Drugs, Chinese Herbal/pharmacokinetics* ; Male ; Rats, Sprague-Dawley ; Drug Carriers/chemistry* ; Drug Compounding ; Cucurbitaceae/chemistry*

Asthma is a chronic inflammatory disease involving multiple inflammatory cells and cytokines. Its pathogenesis is complex, involving various cells and cytokines. Traditional Chinese medicine(TCM) theory suggests that the pathogenesis of asthma is closely related to the dysfunction of internal organs such as the lungs, spleen, and kidneys. In contrast, modern immunological studies have revealed the central role of T helper 1(Th1)/T helper 2(Th2) and T helper 17(Th17)/regulatory T(Treg) cellular immune imbalance in the pathogenesis of asthma. Th1/Th2 imbalance is manifested as hyperfunction of Th2 cells, which promotes the synthesis of immunoglobulin E(IgE) and the activation of eosinophil granulocytes, leading to airway hyperresponsiveness and inflammation.Meanwhile, Th17/Treg imbalance exacerbates the inflammatory response in the airways, further contributing to asthma pathology.Currently, therapeutic strategies for asthma are actively exploring potential targets for regulating the balance of Th1/Th2 and Th17/Treg immune responses. These targets include cytokines, transcription factors, key proteins, and non-coding RNAs. Precisely regulating the expression and function of these targets can effectively modulate the activation and differentiation of immune cells. In recent years,traditional Chinese medicine active ingredients have shown unique potential and prospects in the field of asthma treatment. Based on this, the present study systematically summarizes the efficacy and specific mechanisms of TCM active ingredients in treating asthma by regulating Th1/Th2 and Th17/Treg immune balance through literature review and analysis. These active ingredients, including flavonoids, terpenoids, polysaccharides, alkaloids, and phenolic acids, exert their effects through various mechanisms, such as inhibiting the activation of inflammatory cells, reducing the release of cytokines, and promoting the normal differentiation of immune cells. This study aims to provide a solid foundation for the widespread application and in-depth development of TCM in asthma treatment and to offer new ideas for clinical research and drug development of asthma.
Asthma/genetics* ; Humans ; Drugs, Chinese Herbal/chemistry* ; Th2 Cells/drug effects* ; Th17 Cells/drug effects* ; T-Lymphocytes, Regulatory/drug effects* ; Th1 Cells/drug effects* ; Animals ; Cytokines/immunology* ; Medicine, Chinese Traditional

To clarify the occurrence and distribution of broad bean wilt virus 2(BBWV2) on Rehmannia glutinosa, this study collected 87 R. glutinosa samples with typical symptoms of viral disease such as chlorosis and crumple from Wenxian county and Wuzhi county in Jiaozuo city, Henan province and Qiaocheng district in Bozhou city, Anhui province. The BBWV2 CP target band was amplified from 37 R. glutinosa samples by RT-PCR technology. The total detection rate reached 42.5%, among which 43.0% was detected in samples from Henan province. The detection rate in samples from Anhui province was 37.5%. 37 BBWV2 CP sequences were obtained by cloning and sequencing of BBWV2 positive samples(data has been submitted to GenBank, accession numbers: PP407959-PP407995), and the sequence analysis of these CP sequences with 91 other BBWV2 isolates in GenBank showed a high genetic diversity with a consistency rate of 70.8%-100%. Meanwhile, phylogenetic analysis showed that BBWV2 could be divided into three groups according to CP sequences, among which the BBWV2 in R. glutinosa isolates obtained in this study were all located in group 3. This study identified the differences in the occurrence, distribution, and genetic diversity of BBWV2 in R. glutinosa from Henan province and Anhui province and provided a theoretical basis for the prevention and control of BBWV2.
Rehmannia/virology* ; Phylogeny ; Plant Diseases/virology* ; China ; Molecular Sequence Data ; Fabavirus/classification*