1.Association of CDC42 gene polymorphisms with Pulmonary arterial pressure among patients with Congenital heart disease.
Teng YUAN ; Feng ZHU ; Ren TIAN ; Yunxia LI ; Aikebai AISAN ; Tunike MAHESHATI ; You CHEN
Chinese Journal of Medical Genetics 2025;42(9):1053-1060
OBJECTIVE:
To assess the association of single nucleotide polymorphisms (SNP) of the cell division cycle 42 (CDC42) gene with Pulmonary artery systolic pressure (PASP) among patients with Congenital heart disease (CHD).
METHODS:
In this observational study, clinical data and blood samples were collected from 579 CHD patients with left-to-right shunt who presented to our hospital between January 2012 and January 2017. SNPs of the CDC42 gene were genotyped using an improved multiple ligase detection reaction. Multiple linear regression was applied to evaluate the association of CDC42 gene variants with PASP. This study was approved by the Medical Ethics Committee of the First Affiliated Hospital of Xinjiang Medical University (Ethics No.: 20180222-102).
RESULTS:
Polymorphisms at rs2501256 and rs34896897 of the CDC42 gene were significantly associated with PASP. Compared with the CC genotype at rs2501256, TT and CT carriers displayed higher PASP [TT vs. CC: B (95%CI) = 4.01 (1.95, 6.07), P < 0.001; CT vs. CC: B (95%CI) = 2.91 (0.63, 5.19), P < 0.001]. Similarly, GG and GA genotypes at rs34896897 were associated with higher PASP compared to the AA genotype [GG vs. AA: B (95%CI) = 26.15 (20.45, 31.84), P < 0.001; GA vs. AA: B (95%CI) = 7.19 (4.31, 10.08), P < 0.001]. Genetic model analyses demonstrated significant differences for both rs2501256 and rs34896897 under dominant, additive, and recessive models (P < 0.05). TT carriers at rs2501256 exhibited larger left-and right-atrial diameters, whereas GG carriers at rs34896897 showed greater right-atrial and right-ventricular end-diastolic dimensions. Subgroup analyses revealed no association between rs2501256 and PASP in males, individuals younger than 18 years, Uyghur ethnicity, or those with ventricular septal defects.
CONCLUSION
CHD patients carrying the minor alleles of rs2501256 and rs34896897 in the CDC42 gene present higher incidence of PASP compared to those carrying the common alleles.
Humans
;
Male
;
Female
;
Heart Defects, Congenital/physiopathology*
;
Polymorphism, Single Nucleotide
;
cdc42 GTP-Binding Protein/genetics*
;
Adult
;
Child
;
Genotype
;
Adolescent
;
Child, Preschool
;
Genetic Predisposition to Disease
;
Pulmonary Artery/physiopathology*
2.Research progress of acupuncture for the prevention and treatment of Alzheimer's disease based on the "kidney-governor vessel-brain" axis.
Qian TAN ; Yanjun DU ; Min YOU
Chinese Acupuncture & Moxibustion 2025;45(5):601-608
This paper explores the research progress of acupuncture for the prevention and treatment of Alzheimer's disease (AD) based on the "kidney-governor vessel-brain" axis. According to the fundamental pathogenesis of AD in traditional Chinese medicine (TCM), which attributes to kidney deficiency, marrow depletion, and impaired mental faculties, as well as the governor vessel's connection between the kidney and brain, the concept of the "kidney-governor vessel-brain" axis is proposed. The theoretical basis of the "kidney-governor vessel-brain" axis is analyzed based on the meridian pathway and physiological functions of the governor vessel, as well as the interdependent and mutually reinforcing relationships among the kidney, governor vessel, and brain. The relationship between AD and the "kidney-governor vessel-brain" axis is elucidated from both traditional medical theories and modern biological perspectives. Integrating clinical and mechanistic research on AD prevention and treatment based on this axis, it is suggested that the "kidney-governor vessel-brain" axis provides valuable insights and references for future research on AD prevention and treatment.
Humans
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Alzheimer Disease/physiopathology*
;
Acupuncture Therapy
;
Kidney/blood supply*
;
Brain/blood supply*
;
Meridians
;
Blood Vessels/physiopathology*
3.C/EBPβ-Lin28a positive feedback loop triggered by C/EBPβ hypomethylation enhances the proliferation and migration of vascular smooth muscle cells in restenosis.
Xiaojun ZHOU ; Shan JIANG ; Siyi GUO ; Shuai YAO ; Qiqi SHENG ; Qian ZHANG ; Jianjun DONG ; Lin LIAO
Chinese Medical Journal 2025;138(4):419-429
BACKGROUND:
The main cause of restenosis after percutaneous transluminal angioplasty (PTA) is the excessive proliferation and migration of vascular smooth muscle cells (VSMCs). Lin28a has been reported to play critical regulatory roles in this process. However, whether CCAAT/enhancer-binding proteins β (C/EBPβ) binds to the Lin28a promoter and drives the progression of restenosis has not been clarified. Therefore, in the present study, we aim to clarify the role of C/EBPβ-Lin28a axis in restenosis.
METHODS:
Restenosis and atherosclerosis rat models of type 2 diabetes ( n = 20, for each group) were established by subjecting to PTA. Subsequently, the difference in DNA methylation status and expression of C/EBPβ between the two groups were assessed. EdU, Transwell, and rescue assays were performed to assess the effect of C/EBPβ on the proliferation and migration of VSMCs. DNA methylation status was further assessed using Methyltarget sequencing. The interaction between Lin28a and ten-eleven translocation 1 (TET1) was analysed using co-immunoprecipitation (Co-IP) assay. Student's t -test and one-way analysis of variance were used for statistical analysis.
RESULTS:
C/EBPβ expression was upregulated and accompanied by hypomethylation of its promoter in restenosis when compared with atherosclerosis. In vitroC/EBPβ overexpression facilitated the proliferation and migration of VSMCs and was associated with increased Lin28a expression. Conversely, C/EBPβ knockdown resulted in the opposite effects. Chromatin immunoprecipitation assays further demonstrated that C/EBPβ could directly bind to Lin28a promoter. Increased C/EBPβ expression and enhanced proliferation and migration of VSMCs were observed after decitabine treatment. Further, mechanical stretch promoted C/EBPβ and Lin28a expression accompanied by C/EBPβ hypomethylation. Additionally, Lin28a overexpression reduced C/EBPβ methylation via recruiting TET1 and enhanced C/EBPβ-mediated proliferation and migration of VSMCs. The opposite was noted in Lin28a knockdown cells.
CONCLUSION
Our findings suggest that the C/EBPβ-Lin28a axis is a driver of restenosis progression, and presents a promising therapeutic target for restenosis.
Animals
;
Cell Proliferation/genetics*
;
Cell Movement/genetics*
;
Muscle, Smooth, Vascular/metabolism*
;
Rats
;
DNA Methylation/physiology*
;
CCAAT-Enhancer-Binding Protein-beta/genetics*
;
Male
;
Myocytes, Smooth Muscle/cytology*
;
Rats, Sprague-Dawley
;
RNA-Binding Proteins/genetics*
;
Cells, Cultured
;
Coronary Restenosis/metabolism*
4.Diabetic vascular calcification inhibited by soluble epoxide hydrolase gene deletion via regressing NID2-mediated IGF2-ERK1/2 signaling pathway.
Yueting CAI ; Shuiqing HU ; Jingrui LIU ; Jinlan LUO ; Wenhua LI ; Jiaxin TANG ; Siyang LIU ; Ruolan DONG ; Yan YANG ; Ling TU ; Xizhen XU
Chinese Medical Journal 2025;138(20):2657-2668
BACKGROUND:
Epoxyeicosatrienoic acids (EETs), which are metabolites of arachidonic acid catalyzed by cytochrome P450 epoxygenase, are degraded into inactive dihydroxyeicosatrienoic acids by soluble epoxide hydrolase (sEH). Many studies have revealed that sEH gene deletion exerts protective effects against diabetes. Vascular calcification is a common complication of diabetes, but the potential effects of sEH on diabetic vascular calcification are still unknown.
METHODS:
The level of aortic calcification in wild-type and Ephx2-/- C57BL/6 diabetic mice induced with streptozotocin was evaluated by measuring the aortic calcium content through alizarin red staining, immunohistochemistry staining, and immunofluorescence staining. Mouse vascular smooth muscle cell lines (MOVAS cells) treated with β-glycerol phosphate (0.01 mol/L) plus advanced glycation end products (50 mg/L) were used to investigate the effects of sEH inhibitors or sEH knockdown and EETs on the calcification of vascular smooth muscle cells, which was detected by Western blotting, alizarin red staining, and Von Kossa staining.
RESULTS:
sEH gene deletion significantly inhibited diabetic vascular calcification by increasing levels of EETs in the aortas of mice. EETs (especially 11,12-EET and 14,15-EET) efficiently prevented the osteogenic transdifferentiation of MOVAS cells by decreasing nidogen-2 (NID2) expression. Interestingly, suppressing sEH activity by small interfering ribonucleic acid or specific inhibitors did not block osteogenic transdifferentiation of MOVAS cells induced by β-glycerol phosphate and advanced glycation end products. NID2 overexpression significantly abolished the inhibitory effect of sEH gene deletion on diabetic vascular calcification. Moreover, NID2 overexpression mediated by adeno-associated virus 9 vectors markedly increased insulin-like growth factor 2 (IGF2) and phospho-ERK1/2 expression in MOVAS cells. Overall, sEH gene knockout inhibited diabetic vascular calcification by decreasing aortic NID2 expression and, then, inactivating the downstream IGF2-ERK1/2 signaling pathway.
CONCLUSIONS
sEH gene deletion markedly inhibited diabetic vascular calcification through repressed osteogenic transdifferentiation of vascular smooth muscle cells mediated by increased aortic EET levels, which was associated with decreased NID2 expression and inactivation of the downstream IGF2-ERK1/2 signaling pathway.
Animals
;
Mice
;
Vascular Calcification/metabolism*
;
Mice, Inbred C57BL
;
Epoxide Hydrolases/metabolism*
;
Diabetes Mellitus, Experimental/genetics*
;
Male
;
Gene Deletion
;
MAP Kinase Signaling System/genetics*
;
Cell Line
;
Immunohistochemistry
;
Muscle, Smooth, Vascular/metabolism*
;
Signal Transduction/genetics*
;
Mice, Knockout
5.Expert consensus on laparoscopic and robotic-assisted pancreatoduodenectomy with resection and reconstruction of portal-superior mesenteric vein (2025).
Chinese Journal of Surgery 2025;63(6):461-470
Pancreatoduodenectomy with portal-superior mesenteric vein resection and reconstruction can provide radical surgical opportunities for patients with venous invasion and enable them to benefit from the surgery. With the development of minimally invasive concepts and surgical techniques, laparoscopic and robot-assisted pancreatoduodenectomy with portal-superior mesenteric vein resection and reconstruction is being increasingly widely carried out. This surgical procedure is highly technically demanding, and the perioperative management of patients is complex. However, there is a lack of high-quality and high-level evidence-based clinical studies in this regard. In order to better standardize the clinical application of laparoscopic or robot-assisted pancreatoduodenectomy with portal-superior mesenteric vein resection and reconstruction in China, the Study Group of Minimally Invasive Treatment for Pancreatic Cancer in China Anti-Cancer Association, guided by problems and based on evidence, formed 17 recommendations through full discussions among experts. The recommendations involve the safety, oncological benefits, and perioperative patient management of the minimally invasive approach to pancreatoduodenectomy with portal-superior mesenteric vein resection and reconstruction.
Humans
;
Pancreaticoduodenectomy/methods*
;
Mesenteric Veins/surgery*
;
Laparoscopy
;
Portal Vein/surgery*
;
Robotic Surgical Procedures
;
Pancreatic Neoplasms/surgery*
;
Consensus
6.A case of penetrating craniomaxillofacial injury in the time of COVID-19.
Oliver Gabriel M. BACCAY ; Jesusa M. SANTOS-PEREZ ; Jay Pee M. AMABLE
Philippine Journal of Otolaryngology Head and Neck Surgery 2025;40(Supplement):17-20
OBJECTIVE
To describe a case of a craniomaxillofacial penetrating injury focusing on the importance of a multidisciplinary approach with insights into the surgical planning for successful removal of the foreign body during the pandemic.
METHODSDesign: Case Report
Setting: Tertiary Government Training Hospital
Patient: One
RESULTSA 15-year-old boy presented with a work-related puncture wound in the right nasomaxillary area with accompanying soft-tissue swelling. Physical examination of his face showed no external foreign body. Craniofacial computed tomography scans revealed a rod-shaped opaque foreign body about 12 cm in length and 9 mm in diameter lodged in the right maxillary sinus extending to the right temporal lobe. The otolaryngology-head and neck surgeon and neurosurgeon planned the crucial extraction of the foreign body, but the requirement for a negative RT-PCR, blood products, and additional imaging delayed this emergent operation. The foreign body was eventually removed via combined trans-antral approach and right frontotemporal craniotomy, zygotomy, and craniectomy around the foreign body in the temporal floor with duraplasty and cranioplasty.
CONCLUSIONSuccessful treatment of penetrating craniomaxillofacial injuries involves diligent clinical assessment, radiologic diagnosis and a well-planned multidisciplinary surgical approach. Delays in treatment may be beneficial if they allow precise location of the foreign body and thorough evaluation of involved structures. Safeguarding the healthcare workers during the pandemic was as important as ensuring a successful and safe surgery for the patient.
Human ; Male ; Adolescent: 13-18 Yrs Old ; Foreign Bodies ; Temporal Lobe ; Maxillary Sinus ; Middle Cerebral Artery ; Infratemporal Fossa
7.High risk cardiovascular candidate for renal transplantation: A journey to success.
Luzelle Kate B. ABA ; Jose Benito A. ABRAHAM
Philippine Journal of Urology 2025;35(2):116-120
The most common cause of mortality after a kidney transplant is a cardiovascular event. This is why most patients with poor cardiovascular status are denied a transplant. A 70-year-old male, ESRD from hypertensive nephropathy, was declined renal transplantation in the United States for advanced age, severe coronary disease and abdominal aortic aneurysm. The patient sought a second chance at a possible transplantation here in the Philippines. After a comprehensive cardiovascular evaluation, he underwent coronary artery bypass graft for a three-vessel disease followed by endovascular aneurysm repair (EVAR) which he tolerated well. After four weeks, he underwent a living-related kidney transplantation with immediate allograft function. On postoperative day 5, after catheter removal, the patient was unable to void spontaneously. He was diagnosed with benign prostatic obstruction and underwent transurethral resection of the prostate. He tolerated this and voided freely since catheter removal. One year later, the patient has a functioning allograft and stable cardiac status. High risk patients with cardiovascular disease may be given a chance at kidney transplantation after a meticulous evaluation and optimization.
Human ; Male ; Aged: 65-79 Yrs Old ; Evar ; Allografts ; Aneurysm ; Aortic Aneurysm ; Aortic Aneurysm, Abdominal ; Arteries ; Cardiovascular Diseases ; Catheters ; Coronary Artery Bypass ; Disease ; Coronary Disease ; Endovascular Aneurysm Repair ; Evaluation Studies As Topic ; Kidney ; Kidney Failure, Chronic ; Kidney Transplantation ; Male ; Mortality ; Patients ; Philippines ; Prostate ; Risk ; Transplantation ; Transplants ; United States
8.Wunderlich syndrome in a gravid 31-year-old with tuberous sclerosis complex and bilateral angiomyolipoma: A case report.
Bren G. OLIVA ; Enrique C. TENAZAS
Philippine Journal of Urology 2025;35(2):121-126
Wunderlich Syndrome is a rare potentially life-threatening phenomenon that involves spontaneous non-traumatic retroperitoneal hemorrhage. At present, identifying the course of conservative management in these patients, especially in pregnancy, has not been clinically established. Presented here is a known case of Tuberous Sclerosis Complex with a Bilateral, 10cm Angiomyolipoma in a 31-year-old female, initially managed with active surveillance. At 27 weeks of pregnancy, she presented with a sudden onset of left flank pain with a hematocrit of 22%. Anemia was corrected with blood transfusions. A contrast-enhanced MRI of the abdomen showed a large subcapsular perirenal hematoma of the left kidney. Renal angioembolization of the bleeding segmental renal artery was done. The patient was conservatized until 37 weeks of pregnancy and underwent cesarean section delivery.
Four months after angioembolization, she had a recurrence of the left flank pain associated with gross hematuria and hypovolemic shock. The patient underwent emergency renal exploration of the left kidney via a transabdominal approach. Three liters of hemoperitoneum and a large expanding left retroperitoneal hematoma were noted intraoperatively. Early vascular control before nephrectomy of the left kidney was done. The postoperative course was unremarkable and the patient was discharged with improved condition.
This case displays a unique course in the management of a bleeding angiomyolipoma especially during pregnancy. Renal angioembolization can aid in achieving the age of viability in pregnancy. However, close monitoring for rebleeding should be kept in mind. A lower threshold for conservative management should be utilized when patients have a previous history of bleeding.
Human ; Female ; Adult: 25-44 Yrs Old ; Abdomen ; Anemia ; Angiomyolipoma ; Arteries ; Blood ; Blood Transfusion ; Cesarean Section ; Conservative Treatment ; Emergencies ; Female ; Flank Pain ; Hematocrit ; Hematoma ; Hematuria ; Hemoperitoneum ; Hemorrhage ; History ; Hypovolemia ; Insemination, Artificial, Heterologous ; Kidney ; Life ; Nephrectomy ; Pain ; Patients ; Pregnancy ; Recurrence ; Renal Artery ; Research Report ; Sclerosis ; Shock ; Syndrome ; Tuberous Sclerosis ; Watchful Waiting
9.A case of giant dedifferentiated retroperitoneal liposarcoma in a 49 year-old Filipina.
Jude Immanuel P. MASCARIÑAS ; Vanessa Maris C. CARIÑO ; Francisco F. FIRMALO III ; Glenn P. VILLANUEVA
Philippine Journal of Surgical Specialties 2025;80(2):46-49
Liposarcoma is a malignant mesenchymal neoplasm composed of adipose tissue with varying degrees of atypia. While generally indolent, some tumors have the potential to grow enormously particularly if located in the retroperitoneum. We report a 49-year-old female generally asymptomatic except for a 1-year history of gradual abdominal enlargement. Contrast-Enhanced Computed Tomography (CT) of the abdomen showed a large retroperitoneal mass with characteristic features consistent with liposarcoma. On laparotomy, the mass was encapsulated with good plane of dissection, great vessels were preserved, however the right kidney and suprarenal gland were undetachable from the primary tumor hence was removed en bloc with the liposarcoma. The post-operative course was uneventful with excellent outcome after 6 months of follow-up. Final histopathologic diagnosis revealed low-grade, dedifferentiated liposarcoma, which has favorable prognosis following radical surgery.
Human ; Female ; Middle Aged: 45-64 Yrs Old ; Liposarcoma ; Sarcoma ; Renal Veins ; Laparotomy ; Nephrectomy
10.Left atrial sarcoma with pulmonary embolism: A case report.
Philippine Journal of Surgical Specialties 2025;80(2):65-65
Cardiac myxomas are primary cardiac tumors that presents with symptoms of hemodynamic derangement from obstruction of flow within the cardiac chambers or deformation of a cardiac valve and symptoms associated with embolization.
In this case report, we are presented with a 45-year-old female, diabetic with paroxysmal atrial fibrillation, fair functional capacity, ambulatory, with chief complaint of dyspnea. Admitted as a case of Left atrial myxoma with Pulmonary embolism (proximal right lower lobe, distal left main pulmonary artery division, and superior segmental division of the left lower lobe).
Left atrial myxoma was the first diagnostic consideration, followed by other primary cardiac tumors, and thrombus. Patient was then prepared for surgery and underwent excision of LA myxoma with CardioCel Bioscaffold patch on the inter-atrial septum, mitral ring annuloplasty with plication of the A2-A3 segment, thrombectomy of right inferior pulmonary vein, utilizing cardiopulmonary bypass. Upon pathological examination, the mass was found to be sarcoma with noted myxoid features. The objective of this report is to describe a case of this rare disease entity, and to discuss its presentation, pathological findings and management.
Human ; Female ; Middle Aged: 45-64 Yrs Old ; Pulmonary Embolism ; Pulmonary Artery ; Pulmonary Veins ; Atrial Fibrillation ; Atrial Septum ; Cardiopulmonary Bypass ; Hemodynamics ; Thrombectomy


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