Pathogenesis and therapy of arteriovenous malformations: A case report and narrative review
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ABSTRACT:
SUBMITTER: Tessier S
PROVIDER: S-EPMC8547675 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Brain arteriovenous malformations (bAVMs) represent a high risk of intracranial hemorrhages, which are substantial causes of morbidity and mortality of bAVMs, especially in children and young adults. Although a variety of factors leading to hemorrhages of bAVMs are investigated extensively, their pathogenesis is still not well elucidated. The author has reviewed the updated data of genetic aspects of bAVMs, especially focusing on clinical and experimental knowledge from hereditary hemorrhagic telangiectasia, which is the representative genetic disease presenting with bAVMs caused by loss-of-function in one of the two genes: endoglin and activin receptor-like kinase 1. This knowledge may allow us to infer the pathogensis of sporadic bAVMs and in the development of new medical therapies for them.
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Project description:Hemorrhagic stroke due to ruptured brain arteriovenous malformations (AVMs) is a common cause in young stroke patients. When the ruptured AVMs are in deep location, the choice of endovascular intervention with the arterial approach to AVM embolization is routine but in many cases, it is not feasible due to the inability to access because of the small and tortuous arterial branch, however, the intravenous approach also results in high complete obliteration rates but also carries a higher risk of stroke than the intra-arterial route. We describe a 36-year-old female patient diagnosed with intracranial and intraventricular hemorrhage who underwent complete transvenous embolization of the ruptured AVMs, and achieved near-complete clinical recovery after 1 month with the modified Rankin scale 1.
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Project description:We report the third presentation of an intermixed arteriovenous malformation and hemangioblastoma. The rare occurrence of the diagnostic histologic features of both a neoplasm and vascular malformation in a single lesion is more common in gliomas, as angioglioma, and is termed an 'intermixed' lesion. We review the literature concerning the developmental biology of each lesion, and potential interplay in the formation of an intermixed vascular neoplasm and vascular malformation. The roles of cellular origin, genetic susceptibility, favourable microenvironment, altered local gene expression and key regulatory pathways are reviewed. Our review supports angiography and genetic profiling in intermixed lesions to inform management strategies. Consideration should be given to multimodality therapeutic interventions as required, including microsurgical resection, stereotactic radiosurgery and further research to exploit emerging molecular targets.
| S-EPMC7737198 | biostudies-literature
Project description:Arteriovenous malformations (AVM) are congenital malformations of the cerebral vasculature resulting in pathological shunting of blood through dilated arteries and veins. The most common clinical manifestations of AVM are intracerebral hemorrhage, due to rupture of these lesions as they continue to expand, which can have devastating neurological consequences and residual deficits. The genetic underpinnings of AVM have been explored for their role in the angiogenesis of these lesions in both its sporadic and inherited forms. In recent times, our understanding of the genetic variation involved in the pathogenesis AVM has advanced in both the preclinical and clinical realms. The current review highlights in detail these advancements, namely, the genetic underpinnings of diagnostic testing and profiling of AVM, and the preclinical epigenetic and genetic data on AVM pathogenesis and growth. In addition, we review the current candidate genes implicated in AVM pathogenesis in the literature. Finally, we provide a discussion on the genetic conditions associated with AVM and the advancements in treatment paradigms influenced by the genetic profiles of these lesions.
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Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:Uterine arteriovenous malformations (AVMs) are rare, with approximately 100 described cases. They can be either congenital or acquired, with acquired AVMs mainly being associated with pregnancy related iatrogenic uterine trauma. Congenital AVMs are rarer, they originate from anomalous differentiation in the primitive capillary network, resulting in anomalous communication between the arteries and veins. In this article, we present and discuss 2 cases of uterine AVMs aged 21 and 22 with P0G2M2 and P0G1M1 respectively. Both cases presented with repeated episodes of profuse vaginal bleeding. Ultrasound (US) examination revealed classical signs of uterine arteriovenous malformation (AVM) confirmed on computerized tomography angiography (CTA) and digital subtraction angiography (DSA). The present case report highlights on the type of uterine malformations with their clinical presentation, imaging findings and management. Uterine AVM's are either congenital or acquired, clinically they are suspected if a pulsatile mass or bruit is felt in the pelvis. They may be confused with gestational related pathologies (retained products of conception, gestational trophoblastic disease), other vascular anomalies (hemangiomas), or malignancies of the uterus. In a case of suspected uterine AVM, clinical examination and diagnostic imaging, particularly quantitative ultrasound blood flow measurements, plays an important role.
| S-EPMC8189875 | biostudies-literature
Project description:Rapidly progressive dementia (RPD) is a heterogeneous group of diseases characterized by cognitive impairment and other neurological disorders developed in a short span of fewer than 2 years. Currently viewed as new and infrequent entities, most medical personnel have little understanding of it. Nevertheless, they significantly compromise many patients' quality of life. Here, we drive 3 clinical cases that evolve as RPD with different etiologies.Case 170-year-old woman presented to the emergency with neuropsychiatric syndrome for 18 days. The researchers identified inflammatory cerebrospinal fluid (CSF), protein 14-3-3-positive T-tau protein, MRI: T2 and FLAIR hyperintensities in bilateral caudate nuclei with diffusion restriction, EEG shows a generalized periodic pattern with triphasic wave morphology.Case 229-year-old man with cognitive impairment and faciobrachial dystonia seizure. The diagnosis was confirmed by achieving elevated antibodies against voltage-gated potassium channels.Case 3A 49-year-old woman with encephalopathy and myoclonic seizures; EEG and MRI showed subtle changes. The patient also had a normal CSF but a positive CBA serologic NMDA-R antibody test. We described fundamental aspects of RPD to allow made differential diagnoses in patients with cognitive impairment and encephalopathy. Establishing an early and accurate diagnosis can benefit patients with RPD etiologies that are treatable and even reversible, decreasing in morbidity and mortality.
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Project description:Abnormalities in arterial versus venous endothelial cell identity and dysregulation of angiogenesis are deemed important in the pathophysiology of brain arteriovenous malformations (AVMs). The Sonic hedgehog (Shh) pathway is crucial for both angiogenesis and arterial versus venous differentiation of endothelial cells, through its dual role on the vascular endothelial growth factor/Notch signaling and the nuclear orphan receptor COUP-TFII. In this study, we show that Shh, Gli1 (the main transcription factor of the Shh pathway), and COUP-TFII (a target of the non-canonical Shh pathway) are aberrantly expressed in human brain AVMs. We also show that implantation of pellets containing Shh in the cornea of Efnb2/LacZ mice induces growth of distinct arteries and veins, interconnected by complex sets of arteriovenous shunts, without an interposed capillary bed, as seen in AVMs. We also demonstrate that injection in the rat brain of a plasmid containing the human Shh gene induces the growth of tangles of tortuous and dilated vessels, in part positive and in part negative for the arterial marker αSMA, with direct connections between αSMA-positive and -negative vessels. In summary, we show that the Shh pathway is active in human brain AVMs and that Shh-induced angiogenesis has characteristics reminiscent of those seen in AVMs in humans.
| S-EPMC8369994 | biostudies-literature
Project description:IntroductionVascular injuries account for approximately 2-4% of trauma admissions with only 2.5% of these being traumatic arteriovenous fistulas (AVFs). We offer a case report of a traumatic AVF and review of the literature.Presentation of caseA 40-year-old male presented following 4 gunshot wounds, 2 in the forearm and 2 in the left upper thigh. The patient had decreased range of motion and paresthesia of the left lower extremity with palpable pulses and adequate capillary refill in all extremities. A CT angiogram demonstrated a left traumatic AVF involving the left deep femoral artery and left common femoral vein with an adjacent bullet fragment. The patient was taken to the operating room and underwent an exploration of the left groin, repair of the traumatic AVF, and removal of bullet fragment. The venous aspect had a grade IV injury and was ligated. The arterial defect was debrided to healthy tissue and repaired primarily. The patient recovered from his injuries with adequate ambulation and resolution of lower extremity edema. He was discharged home on postoperative day 4 on aspirin and a compression stocking.DiscussionTraumatic AVFs are rare, with up to 70% diagnosed in a delayed fashion. Clinicians must maintain a high index of suspicion to correctly diagnose and manage this injury to avoid potential morbidity and mortality.ConclusionDespite literature accounts of surgeons' experience, this pathology is lacking level one evidence-based standardized surgical management algorithms. Controversy exists regarding venous repair methods.
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Project description: Not available
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