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

OBJECTIVE: To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene. METHODS: A family undergoing prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital in October 2024 was selected as the study subject. Clinical data were collected. Amniotic fluid sample was subjected to chromosomal copy number variation sequencing (CNV-seq). Trio whole-exome sequencing (Trio-WES) was carried out on the amniotic fluid and parental blood samples, and candidate variant was verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-KY-076-01). RESULTS: Both prenatal ultrasound and fetal MRI showed deviation of brain midline, unilateral lateral ventriculomegaly, and bilateral gyral asymmetry. Trio-WES revealed that the fetus has harbored a maternally derived heterozygous missense variant of the TUBB gene [NM_178014.4: c.155A>G (p.N52S)]. Sanger sequencing confirmed that the woman and a previously terminated fetus both harbored the same variant. Both the proband and two fetuses exhibited similar neuroimaging abnormalities including midline deviation and asymmetrical gyri. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+PS2_Moderate+PS3). CONCLUSION The heterozygous c.155A>G (p.N52S) variant was the TUBB gene probably underlay the pathogenesis of the structural brain abnormalities in this family. Above findings have expanded the phenotypic spectrum associated with the variant and facilitated the prenatal diagnosis for this family.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Adult ; Brain/diagnostic imaging* ; Male ; Pedigree ; DNA Copy Number Variations/genetics* ; Exome Sequencing ; Genetic Association Studies ; Magnetic Resonance Imaging

ObjectiveTo investigate the feasibility， safety， and efficacy of surgery-assisted transjugular intrahepatic portosystemic shunt （SA-TIPS） in the treatment of portal hypertension comorbid with complex portal vein thrombosis， including cavernous transformation of the portal vein （CTPV）. MethodsAn analysis was performed for the data of 36 patients with portal hypertension and complex portal vein thrombosis who underwent SA-TIPS in Beijing Shijitan Hospital， Capital Medical University， from November 2023 to January 2025， including general status， technical data of the surgical process （surgical success rate， puncture times， time of operation， the number of stents used， and the length of shunt）， perioperative complications， and surgical recovery. The change in portal pressure gradient （PPG） after shunt was compared， and the rate of reaching the standard for PPG reduction was calculated， as well as stent patency rate within 1 week after surgery. The paired samples t-test was used for comparison of continuous data between two groups. ResultsAmong the 36 patients， 34 （94.4%） underwent SA-TIPS successfully. The incidence rate of perioperative complications was 16.7% （6/36）， including 3 cases of thoraco-abdominal hemorrhage， 2 cases of intraoperative arrhythmia， and 1 case of incision infection. There was a significant reduction in PPG after SA-TIPS （t=19.85， P<0.01）， and the patients achieving a ≥50% reduction in PPG accounted for 76.5% （26/34）. Imaging reexamination within 1 week showed a shunt patency rate of 100%. ConclusionSA-TIPS has a high technical success rate， a favorable safety profile， and good efficacy in the treatment of portal hypertension comorbid with complex portal vein thrombosis （including CTPV）， and therefore， it holds promise for clinical application.

Diabetic retinopathy(DR), the most common microvascular complication of diabetes, has become a leading cause of visual impairment and blindness across all age groups. The early diagnosis and severity assessment of DR rely on the precise evaluation of retinal microvascular alterations. The periarterial capillary-free zone(paCFZ), a physiological avascular region surrounding retinal arteries, has recently been recognized as an important biomarker reflecting the status of retinal microcirculation. Advances in optical coherence tomography angiography(OCTA)have enabled noninvasive, high-resolution quantification of the paCFZ, offering a novel approach for the early detection and stratification of DR. This review systematically summarizes the definition and developmental mechanism of the paCFZ, as well as its morphological characteristics across different stages of DR, with a particular focus on the advantages of OCTA in visualizing and quantifying the paCFZ. We further discuss the differential manifestations of the paCFZ in nonproliferative DR and proliferative DR, and its associations with retinal ischemia and oxygenation status. In addition, the potential clinical value of paCFZ in evaluating responses to anti-vascular endothelial growth factor(VEGF)therapy and predicting disease progression is summarized. Finally, the challenges in clinical translation and future research directions are addressed, aiming to provide theoretical support and new perspectives for early screening, risk stratification, and personalized management of DR.

Depression is a common mental disorder that falls under the category of "stagnation syndrome" in traditional Chinese medicine （TCM）. Its complex pathogenesis poses challenges for the development of novel therapeutic agents. Currently， clinically used antidepressants are often accompanied by significant side effects， and statistics show that about one-third of patients do not respond to these medications. TCM demonstrates advantages in the treatment of depression through multi-target， multi-pathway and multi-mechanistic approaches. Pinelliae Rhizoma， a phlegm-resolving herb， exhibits effects such as drying dampness and resolving phlegm， as well as eliminating stuffiness and reducing masses. The characteristics of harmonizing Yin and Yang and resolving stagnation in the middle energizer align precisely with the pathogenesis of depression syndrome， demonstrating therapeutic efficacy in affected patients. Literature studies have found that the active ingredients of Pinelliae Rhizoma， such as cavidine， baicalein， β-sitosterol， as well as Pinelliae Rhizoma herb pairs， such as Pinelliae Rhizoma-Magnoliae Officinalis Cortex， Pinelliae Rhizoma-husked sorghum， Pinelliae Rhizoma-Prunellae Spica， exhibit significant antidepressant effects. Furthermore， TCM formulas containing Pinelliae Rhizoma as the principal therapeutic agent， such as Banxia Xiexin Tang， Banxia Houpo Tang， and Wendan Tang， as well as formulas incorporating Pinelliae Rhizoma like compound Xiaochaihu Tang， Chaihu Jia Longgu Muli Tang， and Erchen Tang， have also demonstrated favorable antidepressant efficacy. The antidepressant mechanism of these agents may involve modulation of 5-hydroxytryptamine （5-HT） and dopamine （DA） levels， up-regulation of brain-derived neurotrophic factor （BDNF） expression， regulation of the hypothalamus-pituitary-adrenal （HPA） axis， reduction of oxidative stress， modulation of nuclear transcription factor-κB （NF-κB） signaling pathway， and inhibition of microglia-mediated inflammatory responses. This review summarized the antidepressant mechanisms and clinical applications of the active components， herb pairs， and TCM formulas containing Pinelliae Rhizoma， aiming to provide a reference for modern research on the use of Pinelliae Rhizoma in antidepressant therapy.

Congenital blood group chimerism refers to the coexistence of two or more distinct blood types within an individual, resulting from the presence of hematopoietic cell populations with different genotypes. Consequently, red blood cells in such individuals may express different blood group antigens. Based on the timing and mechanism of formation, blood group chimerism can be classified as either congenital or acquired. Although congenital blood group chimerism is rare and involves complex mechanisms, it holds significant implications in transfusion medicine, transplantation, and obstetrics. This article reviews the formation mechanisms, detection methods, and clinical significance of congenital blood group chimerism in transfusion medicine. Particular emphasis is placed on the principles, advantages, and limitations of various detection techniques. Furthermore, the potential applications of these technologies in clinical diagnosis are discussed, providing a technical foundation for the development of precise transfusion strategies.

The advancement of medical technology has led to significant progress in the research of standardized surgical procedures for colorectal cancer, resulting in enhanced treatment regimens from preoperative to postoperative stages. Standardized surgical procedures are crucial for improving patient survival rates, reducing recurrence rates, minimizing complications, and improving quality of life. This article summarizes the latest research results on the classification, surgical methods, and adjuvant therapy of colorectal cancer surgery; analyzes and explores standardized surgical treatment strategies; and aims to provide reference and guidance for the clinical management of colorectal cancer.

OBJECTIVE To evaluate the cost-effectiveness of dapagliflozin and empagliflozin in the treatment of type 2 diabetic kidney disease from the perspective of healthcare system in China. METHODS Based on the data from the two multicenter clinical trials， DECLARE-TIMI 58 and EMPA-REG OUTCOME， a Markov model was constructed according to the urinary albumin-to-creatinine ratio （UACR） of the patients with type 2 diabetic kidney disease with a cycle of 1 year， simulating until 99% of patients died. The model outputs were total costs and quality-adjusted life year （QALY）. The cost-effectiveness of the two treatment regimens was assessed by comparing their incremental cost-effectiveness ratio （ICER） and the willingness-to-pay threshold （WTP，set at three times China’s 2023 per capita gross domestic product， i.e.， 268 074 yuan/QALY）. Additionally， oneway sensitivity analysis and probabilistic sensitivity analysis were performed to test the robustness of the base analysis results. RESULTS Compared with dapagliflozin， the ICER for empagliflozin regimen was 44 334.82 yuan/QALY， which was below the WTP ， indicating its cost-effectiveness. The results of the oneway sensitivity analysis indicated that the incidence of non-fatal myocardial infarction in both groups and the utility values associated with the microalbuminuria state had the most significant impact on the outcomes， but did not change the base-case conclusion. The probabilistic sensitivity analysis indicated that the results of the base-case analysis were robust. CONCLUSIONS With a WTP of three times China’s per capita gross domestic product in 2023， empagliflozin is more cost-effective than dapagliflozin in treating type 2 diabetic kidney disease.

As a common malignant tumor of the respiratory system， the incidence and mortality of lung cancer are still rising year by year. Its pathogenesis is complex， the prognosis is poor， and it seriously affects human physical and mental health. Although existing Western medical treatments can inhibit tumor growth to a certain extent and relieve patients' painful symptoms， problems such as postoperative recurrence and metastasis， numerous adverse reactions， and the tendency to develop drug resistance make the overall therapeutic effect unsatisfactory. Therefore， it is urgent to seek more efficient and safer treatments. Adenosine monophosphate-activated protein kinase （AMPK） signaling pathway can regulate the growth， differentiation， apoptosis， and autophagy of lung cancer cells， and is extensively involved in the occurrence and development of lung cancer， thus being regarded as an important target for anti-lung cancer therapy. Traditional Chinese medicine （TCM） exerts anti-lung cancer effects through multiple pathways， mechanisms， and targets， with advantages such as preventing postoperative recurrence and metastasis， alleviating the adverse reactions of radiotherapy and chemotherapy， and improving quality of life. TCM has therefore become a key approach in current anti-lung cancer treatment. Studies have found that active components of Chinese medicine， including flavonoids， saponins， polyphenols， and terpenes， as well as Chinese medicine compound prescriptions such as Guiqi Yiyuan extract， Qingzao Jiufei decoction， and Yiqi Fuzheng formula， have significant regulatory effects on AMPK and its interacting signaling pathways. These effects include inducing autophagy and apoptosis of lung cancer cells， modulating macrophage polarization， inhibiting epithelial-mesenchymal transition， reversing drug resistance， and blocking the cell cycle， thereby exerting anti-lung cancer activity. This article reviews and summarizes recent studies on the anti-lung cancer effects of TCM， and discusses the mechanisms by which TCM regulates the AMPK signaling pathway in the treatment of lung cancer， with the aim of providing ideas and references for the development of new clinical anti-lung cancer drugs.

As a common malignant tumor of the respiratory system， the incidence and mortality of lung cancer are still rising year by year. Its pathogenesis is complex， the prognosis is poor， and it seriously affects human physical and mental health. Although existing Western medical treatments can inhibit tumor growth to a certain extent and relieve patients' painful symptoms， problems such as postoperative recurrence and metastasis， numerous adverse reactions， and the tendency to develop drug resistance make the overall therapeutic effect unsatisfactory. Therefore， it is urgent to seek more efficient and safer treatments. Adenosine monophosphate-activated protein kinase （AMPK） signaling pathway can regulate the growth， differentiation， apoptosis， and autophagy of lung cancer cells， and is extensively involved in the occurrence and development of lung cancer， thus being regarded as an important target for anti-lung cancer therapy. Traditional Chinese medicine （TCM） exerts anti-lung cancer effects through multiple pathways， mechanisms， and targets， with advantages such as preventing postoperative recurrence and metastasis， alleviating the adverse reactions of radiotherapy and chemotherapy， and improving quality of life. TCM has therefore become a key approach in current anti-lung cancer treatment. Studies have found that active components of Chinese medicine， including flavonoids， saponins， polyphenols， and terpenes， as well as Chinese medicine compound prescriptions such as Guiqi Yiyuan extract， Qingzao Jiufei decoction， and Yiqi Fuzheng formula， have significant regulatory effects on AMPK and its interacting signaling pathways. These effects include inducing autophagy and apoptosis of lung cancer cells， modulating macrophage polarization， inhibiting epithelial-mesenchymal transition， reversing drug resistance， and blocking the cell cycle， thereby exerting anti-lung cancer activity. This article reviews and summarizes recent studies on the anti-lung cancer effects of TCM， and discusses the mechanisms by which TCM regulates the AMPK signaling pathway in the treatment of lung cancer， with the aim of providing ideas and references for the development of new clinical anti-lung cancer drugs.