Electrophysiological monitoring of the nonrecurrent inferior laryngeal nerve and radiological evaluation of concurrent vascular anomalies.

Purpose: The objective of this study was to characterize the electrophysiological characteristics of nonrecurrent inferior laryngeal nerves (NRILNs) that were dissected via intraoperative neuromonitoring (IONM) and concomitant vascular anomalies in patients with NRILNs. Methods: A retrospective analysis was conducted on 7865 patients who underwent thyroidectomy with IONM at three tertiary referral centers. The study included 42 patients in whom an NRILN was detected. IONM data and postoperative vocal cord (VC) examinations were recorded for all patients. The absence of an initial vagal EMG response and/or a short (<3.5 ms) latency period during the initial vagal stimulation or the inability to identify the RLN within the Beahrs triangle was considered highly suspicious for the presence of an NRILN. Postoperative cross-sectional imaging was performed in 36 out of 42 patients to assess any concurrent vascular anomalies. Results: The prevalence of NRILN was 0.53%. An NRILN was suspected due to EMG findings in 32 (76%) patients and the inability to identify the RLN within the Beahrs triangle in the remaining 10 (24%) patients. The mean right VN latency period was 3.05 ± 0.15 ms. The V1 latency period of the right VN was shorter than 3.5 ms in 39 (93%) and longer than 3.5 ms in 3 (7%) patients. One of these three patients with latency>3.5ms had a large mediastinal goiter. Transient VC paralysis occurred in one (2.4%) patient. Of the 36 patients with postoperative imaging data, 33 (91.4%) had vascular anomalies. All 33 patients had aberrant right subclavian arteries, and 13 (39.4%) also had accompanying additional vascular anomalies. Conclusion: The NRILN is an anatomical variation that increases the risk of nerve injury. Observation of an absent EMG response and/or a short latency period during the initial vagal stimulation facilitates the detection of an NRILN at an early stage of thyroidectomy in the majority of patients.

Pulmonary Vein in a Pinch.

The pulmonary veins normally drain into the left atrium, with the superior pulmonary veins typically situated anterior and inferior to the right pulmonary arteries. However, anomalies can happen. We encountered an exceedingly rare pulmonary vascular anomaly for a patient presenting with atypical chest pain, where the right superior pulmonary vein aberrantly ran posterior to the right pulmonary artery (RPA) and became compressed between the RPA and the right main bronchus. Coronary computed tomography angiography identified this specific pulmonary vein anomaly but revealed unremarkable coronary arteries.

Internal Carotid Artery Hypoplasia Misidentified as Internal Carotid Artery Dissection.

Agenesis or hypoplasia of the internal carotid artery (ICA) may easily be confused with dissection or occlusion. We report a case of a 24-year-old female with complaint of acute left-hand hypoesthesia and a history of occasional intermittent numbness of her right hand with myoclonic jerking. Because previous imaging studies over 2 years were interpreted as occlusion of the left ICA secondary to carotid dissection, the treating physician had prescribed anticoagulant therapy. During transcranial Doppler (TCD) examination, the spectral waveform was unexpectedly normal, prompting a repeat review of all imaging due to the TCD results. Magnetic resonance angiography (MRA) revealed the same "flame-like" appearance of the ICA origin. Late-phase digital subtraction angiography showed a small caliber cervical ICA (occluded at the skull base). Computed tomography demonstrated absence of the carotid canal, confirming an absent intracranial portion of the ICA and establishing a correct diagnosis of left internal carotid hypoplasia. Vascular ultrasound and TCD examinations are noninvasive and inexpensive tools that can improve the interpretation and understanding of the clinical significance of other "static" radiographic tests (MRA, digital subtraction angiography ). An accurate diagnosis is essential to avoid risky, aggressive treatment, such as anticoagulation for an "absent" dissection.

Percutaneous Sclerotherapy of Venous Malformations.

Venous malformation (VM) stands as the most prevalent form of vascular malformation, characterized by its diverse morphology. These lesions can manifest in any part of the body, affecting different tissue planes and giving rise to symptoms such as pain, swelling, or physical dysfunction. In the realm of treatment, direct puncture VM sclerotherapy holds its place as the primary approach. This technique involves the administration of a sclerosing agent into the VM channels during contrast phlebography while simultaneously managing the outflow veins through different methods. The process of VM sclerotherapy induces endothelial damage, thrombosis, and fibrosis, resulting in symptom relief through lesion shrinkage. It is crucial to exercise caution techniques and sclerosing agents during VM sclerotherapy to minimize procedural complications, enhance clinical outcomes, and ultimately improve the patient's overall quality of life.

Fibroadipose Vascular Anomaly: Diagnosis and Treatment.

Fibro-Adipose Vascular Anomaly (FAVA) is a recently identified type of vascular malformation predominantly affecting adolescent females. Comprising abnormal adipose and vascular components, FAVA is frequently misdiagnosed as other vascular anomalies. It primarily manifests with pain, functional impairment, and musculoskeletal symptoms, particularly in the lower extremities. Accurate diagnosis requires a combination of clinical, radiologic, and histopathologic evaluation, with MRI and ultrasound being the primary imaging tools. Management of FAVA is multidisciplinary and tailored to individual patients. Interventional radiology procedures, such as percutaneous cryoablation, sclerotherapy, and embolization, are effective in long term control of symptoms. Cryoablation is particularly successful in alleviating pain and improving function. Surgical resection is reserved for specific cases with extensive lesions involving joints or when there is severe muscle or joint dysfunction. Additionally, sirolimus, an mTOR inhibitor, has shown promise in symptom relief, although further research is needed to confirm its long-term efficacy. Early diagnosis and treatment are essential for improving the quality of life in FAVA patients. Advances in imaging and treatment strategies have enhanced the ability to manage this complex and rare condition effectively.

A Rare Case of Internal Jugular Venous Malformation Treated by Surgical Excision.

This paper reports a case of an internal jugular venous malformation (IJVM) and route of treatment in a patient with limited symptoms. After history and imaging studies, a determination of surgical excision was made to rule out possible malignancy and future problems such as thrombosis. The mass was resected, and part of the IJVM was ligated. The mass had no identifiable malignancy, and the patient recovered fully with no complications. The paper highlights the importance of identifying venous malformations and highlights the reasoning behind the course of action.

[Dynamic functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis]. / Dinamicheskaya funktsional'naya otsenka patologicheskikh izvitostei vnutrennikh sonnykh arterii u bol'nykh s mul'tifokal'nym aterosklerozom. Klinicheskii sluchai.

A personalized approach with attention to anamnesis and specific symptoms is necessary in patients with internal carotid artery tortuosity. Neuroimaging (especially before elective surgery) or functional stress tests following ultrasound of supra-aortic vessels may be necessary depending on medical history and complaints. In addition to standard Doppler ultrasound, these patients should undergo rotational and orthostatic transformation tests. We analyze changes in shape and hemodynamic parameters within the tortuosity area in various body positions. This is especially valuable for patients with concomitant carotid artery stenosis. The article presents a clinical case illustrating the importance of such approach.

[Functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis]. / Vazhnost' dinamicheskoi funktsional'noi otsenki patologicheskoi izvitosti vnutrennikh sonnykh arterii u bol'nykh s mul'tifokal'nym aterosklerozom.

The review is devoted to diagnosis and treatment of internal carotid artery tortuosity. The authors consider modern classification, epidemiology and diagnostic options using neuroimaging or ultrasound-assisted functional stress tests depending on medical history and complaints. In addition to standard Doppler ultrasound, rotational and orthostatic tests are advisable due to possible changes of local shape and hemodynamic parameters following body position changes, especially in patients with concomitant atherosclerotic stenosis. Thus, a personalized approach is especially important for treatment and diagnostics of internal carotid artery tortuosity.

Shear stress and pathophysiological PI3K involvement in vascular malformations.

Molecular characterization of vascular anomalies has revealed that affected endothelial cells (ECs) harbor gain-of-function (GOF) mutations in the gene encoding the catalytic α subunit of PI3Kα (PIK3CA). These PIK3CA mutations are known to cause solid cancers when occurring in other tissues. PIK3CA-related vascular anomalies, or "PIKopathies," range from simple, i.e., restricted to a particular form of malformation, to complex, i.e., presenting with a range of hyperplasia phenotypes, including the PIK3CA-related overgrowth spectrum. Interestingly, development of PIKopathies is affected by fluid shear stress (FSS), a physiological stimulus caused by blood or lymph flow. These findings implicate PI3K in mediating physiological EC responses to FSS conditions characteristic of lymphatic and capillary vessel beds. Consistent with this hypothesis, increased PI3K signaling also contributes to cerebral cavernous malformations, a vascular disorder that affects low-perfused brain venous capillaries. Because the GOF activity of PI3K and its signaling partners are excellent drug targets, understanding PIK3CA's role in the development of vascular anomalies may inform therapeutic strategies to normalize EC responses in the diseased state. This Review focuses on PIK3CA's role in mediating EC responses to FSS and discusses current understanding of PIK3CA dysregulation in a range of vascular anomalies that particularly affect low-perfused regions of the vasculature. We also discuss recent surprising findings linking increased PI3K signaling to fast-flow arteriovenous malformations in hereditary hemorrhagic telangiectasias.

Thoracic outlet syndrome caused by superior mediastinal mass: A case report.

INTRODUCTION: Thoracic outlet syndrome (TOS) caused by superior mediastinal soft tissue mass has never been reported in the literature, the aim of this study is to discuss a case of TOS caused by a superior mediastinal mass in which the histopathological examinations of the mass showed vascular malformation. CASE REPORT: A 45-year-old female presented with left upper limb pain and numbness for three months, associated with swelling and attacks of shortness of breath. Imaging studies showed soft tissue mass involving the superior mediastinum. The condition of the patient deteriorated and the signs and symptoms of TOS became clearer, all provocative tests and nerve conduction studies were positive. The patient underwent thoracic outlet decompression. The patient did not respond and the symptoms deteriorated further. After a multidisciplinary board discussion, the patient was prepared for median sternotomy under general anesthesia. A total resection of the mass was done. The patient was totally relieved a few hours after the operation. DISCUSSION: The etiology of TOS can be multifaceted. Several factors contribute to its onset, and these can be categorized as congenital or acquired. Congenital causes include anatomical anomalies such as a cervical rib, or an elongated transverse process of the cervical vertebrae. These anatomical deviations can reduce the size of the thoracic outlet and make it prone to compression. CONCLUSION: Although it is rare, TOS could be due to superior mediastinal mass and the treatment of choice is total resection either through median sternotomy or thoracoscopic procedure.

Comprehensive Analyses of Coagulation Parameters in Patients with Vascular Anomalies.

BACKGROUND: Vascular anomalies comprise a diverse group of rare diseases with altered blood flow and are often associated with coagulation disorders. The most common example is a localized intravascular coagulopathy in venous malformations leading to elevated D-dimers. In severe cases, this may progress to a disseminated intravascular coagulopathy with subsequent consumption of fibrinogen and thrombocytes predisposing to serious bleeding. A separate coagulopathy is the Kasabach-Merritt phenomenon in kaposiform hemangioendothelioma characterized by platelet trapping leading to thrombocytopenia and eventually consumptive coagulopathy. Our previous work showed impaired von Willebrand factor and platelet aggregometry due to abnormal blood flow, i.e., in ventricular assist devices or extracorporeal membrane oxygenation. With altered blood flow also present in vascular anomalies, we hypothesized that, in particular, the von Willebrand factor parameters and the platelet function may be similarly impacted. METHODS: We prospectively recruited 73 patients with different vascular anomaly entities and analyzed their coagulation parameters. RESULTS: Acquired von Willebrand syndrome was observed in both of our patients with Kasabach-Merritt phenomenon. In six out of nine patients with complex lymphatic anomalies, both the vWF antigen and activity were upregulated. Platelet aggregometry was impaired in both patients with Kasabach-Merritt phenomenon and in seven out of eight patients with an arteriovenous malformation. CONCLUSIONS: The analysis of coagulation parameters in our patients with vascular anomalies advanced our understanding of the underlying pathophysiologies of the observed coagulopathies. This may lead to new treatment options for the, in part, life-threatening bleeding risks in these patients in the future.

Clinical characteristics associated with pain in patients with peripheral vascular malformations.

OBJECTIVE: Vascular malformations (VM) can negatively impact the patient's quality of life (QoL). Pain is a common problem in these patients. The aim of this study was to investigate risk factors associated with pain and to assess how pain affects QoL. METHODS: This prospective cross-sectional study was conducted in a tertiary vascular anomaly expertise center. Between June and December 2020, all patients from our local database (334 adults and 189 children) with peripheral VMs were invited to complete the Outcome Measures for VAscular MAlformations questionnaire to evaluate the presence, frequency, and intensity of pain. Additionally, patients were asked to complete several Patient-Reported Outcome Measurement Information System scales to evaluate their QoL. Risk factors associated with pain were identified in bivariate analysis and multivariable logistic regression. QoL domains were compared between patients who experienced pain and patients who did not. RESULTS: A total of 164 patients completed the questionnaire about pain and 133 patients completed all QoL questionnaires. Approximately one-half of the patients (52%) reported pain in the past four weeks and 57% of these patients reported pain daily or several times a week. Female sex (P = .009), lesions located in the upper extremity (P < .001) or lower extremity (P < .001), and intramuscular/intraosseous lesions (P = .004) were independently associated with the presence of pain. The following QoL domains were diminished in patients who experienced pain in comparison with patients who did not: pain interference (P < .001), physical functioning (P < .001), and social participation (P < .001) in adults, and pain interference (P = .001), mobility (P = .001), and anxiety (P = .024) in children. CONCLUSIONS: Pain is a frequently reported complaint in patients with VMs and is present in approximately one-half of the patients. Patients with lesions located in the upper or lower extremity, intramuscular/intraosseous lesions, and female patients are more likely to experience pain. The presence of pain negatively impacted patients' QoL. Although VM are a benign condition and expectative management is frequently applied, our study shows that pain is a serious concern and needs to be actively assessed. Pain is a sign of various etiologies and should be examined to properly treat the pain.

Efficacy and safety of oral sirolimus for high-flow vascular malformations in real clinical practice.

BACKGROUND: Vascular malformations are a complex pathology with few treatment options. In previously published studies, oral sirolimus (rapamycin) has shown promising results in the treatment of low-flow vascular malformations, but its usefulness in high-flow vascular malformations is controversial. AIM: To evaluate the efficacy and safety of sirolimus for the treatment of high-flow vascular malformations in real-life practice. METHODS: In a unit specializing in vascular anomalies, patients treated with oral sirolimus for high-flow vascular malformations were located by consulting the drug dispensations. Reviewing the electronic medical records, data on patient demographics, vascular malformation characteristics, treatments, toxicity and clinical course were collected and statistically analysed. RESULTS: Nine patients with vascular malformations were included: eight had arteriovenous malformation and one had arteriovenous fistula. Six of these malformations were isolated while three were part of a syndrome. Sirolimus was initiated at a dosage of 1-4 mg/day to be taken as a single dose. Partial response was observed in eight of the nine patients (88.9%) with high-flow vascular malformation, while worsening was observed in the remaining patient. The treatment was well tolerated and at the most recent follow-up, five patients remained on treatment with oral sirolimus. CONCLUSION: Our results show that oral sirolimus is a well-tolerated therapeutic option, with an excellent safety profile, which can be useful in the long-term stabilization of patients with high-flow vascular malformations. Single-daily dosage may improve long-term adherence to treatment without worsening its effectiveness.

Malformação venolinfática em borda lateral de língua: relato de caso / Venolymphatic malformation in lateral edge of the tongue: case report

Resumo As malformações vasculares são anomalias que podem acometer veias, vasos linfáticos e artérias de forma isolada ou mista. Quando se apresentam de forma mista, com componentes venosos e linfáticos, são denominadas malformação venolinfática ou linfático-venosa, de acordo com sua constituição predominante. Embora seja um distúrbio benigno de bom prognóstico, é localmente invasivo, podendo levar a deformidade e havendo, ainda, a propensão de recorrência local. O presente artigo traz um caso de malformação venolinfática com localização incomum em borda lateral de língua, abordando-se a conduta clínica e o referencial teórico vigente.

Abstract Vascular malformations are vascular anomalies that can affect veins, lymphatic vessels, and/or arteries in isolated or mixed form. When they present in the mixed form with venous and lymphatic involvement, they are called venolymphatic or lymphatic-venous malformations, depending on their predominant component. Although these are benign disorders with good prognosis, they are locally invasive and may lead to deformity, while there is also a propensity for local recurrence. This article presents a case of venolymphatic malformation with unusual localization on the lateral border of the tongue, addressing the clinical conduct and the current theoretical framework.

Renal Artery Reconstruction for Refractory Hypertension Caused by Congenital Renal Artery Deficiency.

Renovascular hypertension is a common cause of secondary hypertension. According to the epidemiological survey, the prevalence of renovascular hypertension accounts for 1-5% of the population with hypertension. Most of the cases are associated with atherosclerosis and Fibromuscular Dysplasia (FMD). Owing to the lack of standard treatment, they will eventually develop into chronic kidney disease, which significantly affects the patient's quality of life. Hypertension is considered a prerequisite for renal artery surgery; renal function research is used to guide the treatment of unilateral lesions because endovascular intervention can only slightly improve hypertension and renal function. We advocate open surgery for patients with congenital dysplasia of renal vascular hypertension, in which the most common surgical operations are aortorenal artery bypass, renal artery endarterectomy, and renal artery replantation. This paper reports a rare case of renovascular hypertension. The patient was a 13-year-old female, and the operation was risky and complicated. He was diagnosed with a congenital absence of the right renal artery. The right renal function was recovered, and the blood pressure was well controlled after the Aorta-Right Renal Artery Bypass.

Involvement of Microglia in the Pathophysiology of Intracranial Aneurysms and Vascular Malformations-A Short Overview.

Aneurysms and vascular malformations of the brain represent an important source of intracranial hemorrhage and subsequent mortality and morbidity. We are only beginning to discern the involvement of microglia, the resident immune cell of the central nervous system, in these pathologies and their outcomes. Recent evidence suggests that activated proinflammatory microglia are implicated in the expansion of brain injury following subarachnoid hemorrhage (SAH) in both the acute and chronic phases, being also a main actor in vasospasm, considerably the most severe complication of SAH. On the other hand, anti-inflammatory microglia may be involved in the resolution of cerebral injury and hemorrhage. These immune cells have also been observed in high numbers in brain arteriovenous malformations (bAVM) and cerebral cavernomas (CCM), although their roles in these lesions are currently incompletely ascertained. The following review aims to shed a light on the most significant findings related to microglia and their roles in intracranial aneurysms and vascular malformations, as well as possibly establish the course for future research.