Comparative analysis of aneurysm subtypes associated genes based on protein–protein interaction network

The arterial aneurysm refers to localized dilation of blood vessel wall and is common in general population. The majority of aneurysm cases remains asymptomatic until a sudden rupture which is usually fatal and of extremely high mortality (~ 50–60%). Therefore, early diagnosis, prevention and management of aneurysm are in urgent need. Unfortunately, current understanding of disease driver genes of various aneurysm subtypes is still limited, and without appropriate biomarkers and drug targets no specialized drug has been developed for aneurysm treatment. In this research, aneurysm subtypes were analyzed based on protein–protein interaction network to better understand aneurysm pathogenesis. By measuring network-based proximity of aneurysm subtypes, we identified a relevant closest relationship between aortic aneurysm and aortic dissection. An improved random walk method was performed to prioritize candidate driver genes of each aneurysm subtype. Thereafter, transcriptomes of 6 human aneurysm subtypes were collected and differential expression genes were identified to further filter potential driver genes. Functional enrichment of above driver genes indicated a general role of ubiquitination and programmed cell death in aneurysm pathogenesis. Especially, we further observed participation of BCL-2-mediated apoptosis pathway and caspase-1 related pyroptosis in the development of cerebral aneurysm and aneurysmal subarachnoid hemorrhage in corresponding transcriptomes.

DAPK1 may be a potential biomarker for arterial aneurysm in clinical treatment and activated inflammation levels in arterial aneurysm through NLRP3 inflammasome by Beclin1

Background Death-associated protein kinase (DAPK1) is one of the positive regulators of apoptosis, and it is widely involved in apoptosis induced by multiple pathways. We examined that the function of DAPK1 in Clinical treatment of arterial aneurysm and its underlying mechanisms. Arterial aneurysm is a common cerebrovascular disease with high disability and fatality rate. Objectives Male C57BL/6 mice or DAPK1−/− mice were injected with 50 mg/kg pentobarbital sodium and then were injected with angiotensin II (AngII) infusion for vivo model. hASMCs (Human artery smooth muscle cell) were treated with murine recombinant IL-6 (20 ng ml−1; Cell Signaling) for vitro model. Results DAPK1 gene, mRNA expression, and protein expression were induced in mice of arterial aneurysm. DAPK1 mRNA expression was increased and Area Under Curve was 0.9075 in patients with arterial aneurysm. Knockout of DAPK1 decreased inflammation and vascular injury in mice model of arterial aneurysm. Beclin1/NLRP3 (NACHT, LRR, and PYD domains-containing protein 3) signal pathway is a critical downstream effector of DAPK1 by TAP production. The regulation of Beclin1 participated in the effects of DAPK1 on inflammation of arterial aneurysm by ATP-dependent NLRP3 inflammasome. The regulation of NLRP3 participated in the effects of DAPK1 on inflammation of arterial aneurysm. Conclusion Collectively, our data indicated that DAPK1 may be a potential biomarker for arterial aneurysm in clinical treatment and activated inflammation levels in arterial aneurysm through NLRP3 inflammasome by Beclin1. DAPK1 might be a key pathogenic event underlying excess inflammation of arterial aneurysm.

Jugular Vein Aneurysm, When We Have to Do Surgery?

Introduction: The most common lesions of jugular vein dilatation are aneurysms and ectasia. A jugular vein aneurysm is less common compare to an arterial aneurysm in adults. Because of the rare incidence, treatment guidelines primarily associated with the timing of surgery are not clearly established. Proper treatment can reduce patient complaints without excessive intervention. Case report: A 54 years old woman complained of swelling in the right neck that started three years ago and cephalgia for two years. From CT angiography, we obtained a jugular vein dilatation of 2.3 cm. During periodic evaluation from ultrasonography doppler, there is no increase in the size of the jugular vein. Conclusion: Jugular vein aneurysm presenting in adults is an infrequent phenomenon. It is a benign condition, and conservative observation is advised. It should be operated only if symptomatic or progressive enlarging. A periodic examination must be done to evaluate the size of the jugular vein before a surgical decision

Jugular Vein Aneurysm, When We Have to Do Surgery?

Introduction: The most common lesions of jugular vein dilatation are aneurysms and ectasia. A jugular vein aneurysm is less common compare to an arterial aneurysm in adults. Because of the rare incidence, treatment guidelines primarily associated with the timing of surgery are not clearly established. Proper treatment can reduce patient complaints without excessive intervention. Case report: A 54 years old woman complained of swelling in the right neck that started three years ago and cephalgia for two years. From CT angiography, we obtained a jugular vein dilatation of 2.3 cm. During periodic evaluation from ultrasonography doppler, there is no increase in the size of the jugular vein. Conclusion: Jugular vein aneurysm presenting in adults is an infrequent phenomenon. It is a benign condition, and conservative observation is advised. It should be operated only if symptomatic or progressive enlarging. A periodic examination must be done to evaluate the size of the jugular vein before a surgical decision

Trans-Arterial Embolization On A Catastrophic Primary Postpartum Hemorrhage Due To Arterial Aneurysm With Arteriovenous Fistula At Bilateral Lower Vagina: A Case Report

Background: Failure of the primary management at controlling the post-partum hemorrhage (PPH) is occasionally encountered. A catastrophic cause of PPH as vagina arterial aneurysms with AVF is rare and not reported in English literature.Case presentations: We present a 34-year-old woman of arterial aneurysms with arteriovenous fistulas (AVF) at bilateral lower vagina causing intractable PPH with aggressive bleeding. By trans-arterial embolization (TAE) the bleeding is successfully controlled, and patient then could recover smoothly.Conclusion: These vascular anomalies being fierce culprit of the PPH would result in primary management failure. Knowledge of the possible etiology of post-partum hemorrhage is crucial for treatment management. This case report aims to point out a pivotal role of TAE at detecting and treating this unusual cause of PPH.

Ruptured arterial aneurysm in Wegener’s granulomatosis: a case report

Background Aneurysm formation is a possible, but rare, complication of granulomatosis with polyangiitis, known as Wegener’s granulomatosis. Urgent diagnosis and therapy is very important because a ruptured aneurysm could be life threatening. Case presentation We, therefore, present the case of a 63-year-old Greek man who was diagnosed with granulomatosis with polyangiitis and retroperitoneal hematoma due to ruptured aneurysm in renal artery and upper pancreaticoduodenal artery. His clinical course was complicated by acute renal failure and acute respiratory failure due to alveolar hemorrhage. Emergency coil embolization was performed. Postembolization recovery was uneventful; no bleeding occurred. The patient underwent mechanical ventilation and continuous veno-venous hemofiltration and received combined immunosuppression and supportive therapy, but eventually died 30 days after admission to hospital from severe septic shock and multiple organ failure. Conclusion Endovascular treatment is the therapy of choice, especially for patients with ruptured aneurysms that are hemodynamically stable. Early diagnosis is very important, as urgent embolization and early initiation of immunosuppression therapy are the treatment of choice.

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

Thoracic aortic aneurysm and dissection (TAAD) is a major cause of cardiovascular morbidity and mortality. Loss-of-function variants in LOX, encoding the extracellular matrix crosslinking enzyme lysyl oxidase, have been reported to cause familial TAAD. Using a next-generation TAAD gene panel, we identified five additional probands carrying LOX variants, including two missense variants affecting highly conserved amino acids in the LOX catalytic domain and three truncating variants. Connective tissue manifestations are apparent in a substantial fraction of the variant carriers. Some LOX variant carriers presented with TAAD early in life, while others had normal aortic diameters at an advanced age. Finally, we identified the first patient with spontaneous coronary artery dissection carrying a LOX variant. In conclusion, our data demonstrate that loss-of-function LOX variants cause a spectrum of aortic and arterial aneurysmal disease, often combined with connective tissue findings.