A comprehensive analysis of patients with cerebral arteriovenous malformation with headache: assessment of risk factors and treatment effectiveness.

BACKGROUND: Due to the high mortality and disability rate of intracranial hemorrhage, headache is not the main focus of research on cerebral arteriovenous malformation (AVM), so research on headaches in AVM is still scarce, and the clinical understanding is shallow. This study aims to delineate the risk factors associated with headaches in AVM and to compare the effectiveness of various intervention treatments versus conservative treatment in alleviating headache symptoms. METHODS: This study conducted a retrospective analysis of AVMs who were treated in our institution from August 2011 to December 2021. Multivariable logistic regression analysis was employed to assess the risk factors for headaches in AVMs with unruptured, non-epileptic. Additionally, the effectiveness of different intervention treatments compared to conservative management in alleviating headaches was evaluated through propensity score matching (PSM). RESULTS: A total of 946 patients were included in the analysis of risk factors for headaches. Multivariate logistic regression analysis identified that female (OR 1.532, 95% CI 1.173-2.001, p = 0.002), supply artery dilatation (OR 1.423, 95% CI 1.082-1.872, p = 0.012), and occipital lobe (OR 1.785, 95% CI 1.307-2.439, p < 0.001) as independent risk factors for the occurrence of headaches. There were 443 AVMs with headache symptoms. After propensity score matching, the microsurgery group (OR 7.27, 95% CI 2.82-18.7 p < 0.001), stereotactic radiosurgery group(OR 9.46, 95% CI 2.26-39.6, p = 0.002), and multimodality treatment group (OR 8.34 95% CI 2.87-24.3, p < 0.001) demonstrate significant headache relief compared to the conservative group. However, there was no significant difference between the embolization group (OR 2.24 95% CI 0.88-5.69, p = 0.091) and the conservative group. CONCLUSIONS: This study identified potential risk factors for headaches in AVMs and found that microsurgery, stereotactic radiosurgery, and multimodal therapy had significant benefits in headache relief compared to conservative treatment. These findings provide important guidance for clinicians when developing treatment options that can help improve overall treatment outcomes and quality of life for patients.

Assessment of the Anterior Clinoid Process and Optic Strut in Chiari Malformation Type I: A Computed Tomography Study.

Objective This study aimed to evaluate morphological features of the anterior clinoid process (ACP) and the optic strut (OS) in Chiari malformation Type I (CM-I). Methods The study universe consisted of computed tomography images of 41 CM-I patients and 45 normal subjects. Comparison of the parameters for CM-I and the control group was performed with the Student's t -test. A " p < 0.05" was accepted as the significance level. Results ACP length was smaller in CM-I than the control group ( p < 0.001). In contrast to ACP length, ACP angle ( p < 0.001), OS length ( p = 0.022), and the distance between ACP and OS ( p = 0.020) were found greater in CM-I in comparison to the control group ( p < 0.05). ACP width ( p = 0.233) and OS width ( p = 0.376) were similar in both groups. ACP pneumatization in CM-I group was found as 12.20%, whereas in the control group as 8.90%. Two different types about the pneumatization were identified in CM-I group (Type 1: 4.9% and Type 2: 7.3%), whereas three different types in the control group (Type 1: 3.3%, Type 2: 4.4%, and Type 3: 1.1%). Relative to ACP, three different types about OS position were identified in CM-I group (Type C: 31.70%, Type D: 64.60%, and Type E: 3.70%) and the control group (Type C: 7.80%, Type D: 64.40%, and Type E: 27.80%). Conclusion Shorter ACP, wide-angled ACP, longer OS, and more anteriorly located OS were found in CM-I group compared with the normal group. Our findings showed that the pneumatization of ACP was not affected by CM-I.

Sonographic Features of Uterine Arteriovenous Malformation: A Case Series.

Uterine arteriovenous malformation (AVM) is very rare but potentially life-threatening. Early and accurate diagnosis is the cornerstone of its management. The objective of this study is to encourage sonographers to become familiar with a variety of grayscale sonographic features, facilitating rapid recognition of the patterns and prompting them to apply color flow Doppler for a diagnosis of uterine AVM and possible further investigations or interventions. We present six cases of uterine AVM presenting with abnormal uterine bleeding at varying degrees of severity, from abnormal menstruation to life-threatening bleeding following curettage. All initially provided some clues of uterine AVM upon grayscale ultrasound, leading to the application of color Doppler flow to support a diagnosis, with confirmation using abdominal computer tomography angiography (CTA) in most cases, resulting in definitive treatment using uterine artery embolization or other interventions. Most importantly, this study provides various sonographic features of uterine AVM, such as appearances of small tubular structures, spongy patterns, a conceptive-product-like appearance, and spaghetti-like patterns. Hopefully, familiarity with these sonographic features can facilitate practitioners to make an early diagnosis, leading to proper further investigation and intervention, and to prevent serious complications from potentially being caused by this subtle but very serious disorder.

Case of Prenatal Diagnosis of a Fetal Pulmonary Arteriovenous Malformation at Term.

In our case, the malformation was diagnosed prenatally at 40 weeks of gestation, and at the age of 14 days, the malformation was removed combined with a segmentectomy of the sixth segment of the left lung. Preoperative diagnostics focus on 3D-CT reconstruction and detailing of the anatomical variations of all arterial and venous vessels, as evident from our case. Treatment includes surgical removal or a minimally invasive interventional approach through the embolization of the vessel afferent to the malformation. After the operation, the child was discharged on the 30th day after birth in good condition and is developing normally. Early operative intervention is of great importance for the favorable outcome of the condition. In our case, this was hypoxemia with a saturation of 70-75%. The rare and often missed prenatal diagnosis of fetal AV malformation is significant for the adequate postnatal treatment and development of affected children.

Unilateral Genital Tract Obstruction with Ipsilateral Renal Anomaly Syndrome: Classification, Clinical Manifestations, and Precise Diagnose.

Purpose: To recommend the classification of unilateral genital tract obstruction with ipsilateral renal anomaly (UGTOIRA) syndrome into five types based on the site of obstruction, and to analyze the clinical manifestations and precise diagnosis of the syndrome. Methods: The data, including demographic characteristics, symptoms, and precise diagnoses from 59 patients over the last decade, were retrospectively analyzed. Data analysis was conducted using the statistical software package SPSS 26.0. Results: All 59 patients diagnosed with UGTOIRA syndrome were classified into five types based on the site of obstruction: Type I (vaginal obstruction) (45, 76.3%), Type II (cervicovaginal obstruction) (7, 11.9%), Type III (cervical obstruction) (3, 5.1%), Type IV (unilateral partial cervical aplasia) (3, 5.1%), and Type V (Unilateral isthmus atresia) (1, 1.7%). Of these cases, there were 34 cases (57.6%) with communication and 25 cases (42.4%) without communication between the left and right genital tracts. The chief complaints included dysmenorrhea alone in 28 cases (47.5%), dysmenorrhea accompanied by blood dripping after menstruation in 12 cases (20.3%), blood dripping after menstruation alone in 14 cases (23.7%), purulent vaginal secretions in one case (1.7%), vaginal pain in one case (1.7%), irregular menstruation in one case (l.7%), and infertility in two cases (3.4%). The precise diagnostic criteria include the affected side, abnormalities in the kidney and ureter, the site of obstruction, the location of blood accumulation, the size of the ipsilateral genital tract, whether there is communication and its site, the type based on the site of obstruction, and the presence and type of complications. Conclusion: This classification of UGTOIRA syndrome encompasses the anatomical features of all cases reported in our study. Only by fully understanding the anatomical characteristics of this syndrome and identifying its clinical manifestations can clinicians make precise diagnoses as early as possible and provide individualized management.

Fibrodysplasia ossificans progressiva: Two case reports.

Fibrodysplasia ossificans progressiva (FOP) is a rare and progressively debilitating disorder affecting 1 in 2 million individuals. It is characterized by the progressive ossification of soft tissues into ectopic bone and congenital malformations of the great toes. FOP leads to significant disability and can result in death due to thoracic insufficiency syndrome. These case reports examine the presentation, diagnosis, and management of FOP, highlighting the diagnostic challenges inherent in managing such rare conditions because of their unique clinical features. They underscore the need for increased awareness among healthcare practitioners to ensure early diagnosis and the implementation of effective management strategies.

Management of Symptomatic Hemorrhage From a Developmental Venous Anomaly.

Developmental venous anomalies (DVAs) are clinically benign, low-flow vascular malformations that classically hemorrhage only when associated with a cerebral cavernous malformation. It is very rare for an isolated DVA to hemorrhage. Resection of the DVA is generally contraindicated because of the high risk of venous infarct. We present the case of a large symptomatic hemorrhage stemming from an isolated DVA. The hematoma was evacuated and the hemorrhagic portion of the DVA was resected. This case demonstrates that in rare circumstances, careful resection can successfully treat hemorrhagic DVAs.

Direct oral anticoagulants and venous malformations: literature review and retrospective study of 29 patients.

Background: Venous malformations (VMs) are commonly associated with localized intravascular coagulopathy leading to elevated D-dimer and risks of hemorrhagic and thromboembolic events, particularly in extensive lesions. While low-molecular-weight heparin (LMWH) has been effective in managing coagulopathy and pain, direct oral anticoagulants (DOACs) emerge as a promising alternative. Objectives: This study aims to evaluate the efficacy and safety of DOACs in treating VMs associated with localized intravascular coagulopathy, offering a comparative perspective to LMWH. Methods: A retrospective study was conducted on 29 patients with VMs and secondary localized intravascular coagulopathy treated with DOACs between 2013 and 2023 in a single tertiary center specialized in vascular anomalies. Data were collected from February 24, 2023, to September 1, 2023. Results: Patients' median age was 40 years (range, 22-76 years), with a female predominance of 66%. Descriptive statistical analysis showed that 85% of patients experienced pain improvement, and 86% showed a reduction in D-dimer by at least 25%, with a mean reduction of 57% (SD, ±32%; IQR, [38-81%]). Additionally, 37% of patients reported a bleeding event, mostly minor. Conclusion: The study findings suggests that DOACs may serve as an alternative to LMWH for patients with VMs associated with pain management and reduced D-dimer, alongside a low observed risk of major bleeding. Tailored dosing considering the location of the malformation, bleeding and thrombotic tendencies, and laboratory abnormalities is recommended. Future studies with larger cohorts and extended follow-up are necessary for more conclusive evidence on DOACs' role in this patient population.

Natural history and clinical manifestation of Pediatric Brain Arteriovenous Malformations.

Brain arteriovenous malformations (bAVMs) are aberrant arteriovenous shunts through a vascular nidus with no intervening capillary beds. They are one of the commonest causes of spontaneous intracranial haemorrhage in children and may be associated with significant morbidity and mortality in cases of rupture. Treatment strategies include microsurgical resection, endovascular embolisation, stereotactic radiosurgery, multimodality treatment with a combination thereof, and particularly in high-grade bAVMs, conservative management. Clinicians involved in treating bAVMs need to have familiarity with the natural history pertaining to bAVMs in terms of risk of rupture, risk factors elevating rupture risk as well as understanding the clinical manifestations of bAVMs. This invited review serves to provide a synthesis on natural history and clinical presentation of bAVMs with particular focus in children to inform decision-making pertaining to management.

A Review of the Current State and Future Directions for Management of Scalp and Facial Vascular Malformations.

Vascular malformations are structural abnormalities that are thought to result from errors in vasculogenesis and angiogenesis during embryogenesis. Vascular malformations of the scalp present unique management challenges due to aesthetic and functional implications. This review examines the pathophysiology, clinical presentation, and management techniques for six common types of vascular malformations of the face and scalp : infantile hemangioma, capillary malformations, venous malformations, lymphatic malformations, arteriovenous malformations, and arteriovenous fistulas. These lesions range from common to rare, and have very different natural histories and management paradigms. There has been increasing understanding of the molecular pathways that are altered in association with these vascular lesions and these molecular targets may represent novel strategies of treating lesions that have historically been approached from a structural perspective only.

Chemical abscess post vein of Galen aneurysmal malformation embolisation with ethylene vinyl alcohol copolymer.

Vein of Galen aneurysmal malformation (VGAM) is a rare congenital malformation characterised by arteriovenous fistulas between primitive choroidal arteries and the median prosencephalic vein, the embryonic precursor to the vein of Galen. Endovascular techniques have changed the management of these patients with improved prognosis. An eight-month-old with VGAM managed by endovascular embolisation using ethylene vinyl alcohol copolymer (EVOH) developed a chemical abscess - a rare complication. It was managed conservatively and showed promising clinical outcome. Contribution: Chemical abscesses following EVOH embolisation are scarce - with imaging differentials, which include brain abscess and onyx granuloma. Knowledge and successful identification of this entity are essential as its management as prognoses differ. Chemical abscess is managed conservatively and has a good prognosis.

Changes in inpatient brain arteriovenous malformation management in the United States following the ARUBA trial: analysis of an interrupted time series design.

The November 2013 online publication of ARUBA, the first multi-institutional randomized controlled trial for unruptured brain arteriovenous malformations (AVMs), has sparked over 100 publications in protracted debates METHODS: This study sought to examine inpatient management patterns of brain AVMs from 2009 to 2016 and observe if changes in U.S. inpatient management were attributable to the ARUBA publication using interrupted time series of brain AVM studies from the National Inpatient Sample data 2009-2016. Outcomes of interest were use of embolization, surgery, combined embolization and microsurgery, radiotherapy, and observation during that admission. An interrupted time series design compared management trends before and after ARUBA. Segmented linear regression analysis tested for immediate and long-term impacts of ARUBA on management. RESULTS: Elective and asymptomatic patient admissions declined 2009-2016. In keeping with the ARUBA findings, observation for unruptured brain AVMs increased and microsurgery decreased. However, embolization, radiosurgery, and combined embolization and microsurgery also increased. For ruptured brain AVMs, treatment modality trends remained positive with even greater rates of observation, embolization, and combined embolization and microsurgery occurring after ARUBA (data on radiosurgery were scarce). None of the estimates for the change in trends were statistically significant. CONCLUSIONS: The publication of ARUBA was associated with a decrease in microsurgery and increase in observation for unruptured brain AVMs in the US. However, inpatient radiotherapy, embolization, and combined embolization and surgery also increased, suggesting trends moved counter to ARUBA's conclusions. This analysis suggested that ARUBA had a small impact as clinicians rejected ARUBA's findings in managing unruptured brain AVMs.

Decades of stability of conjunctival vascular malformations in two patients.

Key Clinical Message: Conjunctival hemangioma and lymphangioma are rare and their long-term follow-up description has been scarce. In our two patients, conjunctival vascular and lymphatic malformations remained stable in decades and could be observed without treatment. Abstract: A 65-year-old woman with diabetic retinopathy underwent glaucoma surgery to construct a filtering bleb adjacent to conjunctival hemangioma, and showed bleb function and stable hemangioma for a decade. A 1.5-year-old girl with right eye lid and cheek swelling by orbital to facial lymphangioma was followed for visual acuity development. Conjunctival lymphangioma was stable in 20 years.

Local compression of the sciatic nerve by a vascular malformation as a rare cause of sciatica: A case report and review of literature.

Background: Sciatica is typically caused by disc herniations or spinal stenosis. Extraspinal compression of the sciatic nerve is less frequent. Case Description: We report a rare case of sciatica with compression of the sciatic nerve by a low-flow vascular malformation in a 24-year-old female patient. The special feature of this case was sciatica along the S1 dermatome, which only occurred in the sitting position and inclination because of compression of the sciatic nerve between the vascular malformation and the lesser trochanter. Spinal imaging showed no abnormal findings. Surgery was performed interdisciplinary and included neurosurgery, vascular surgery, and trauma surgery. After surgery, the patient became symptom-free. Conclusion: Rare and extraspinal causes of local compression of the sciatic nerve should be considered, especially in cases of lacking spinal imaging correlation and untypical clinical presentation. Interdisciplinary surgical cooperation is of special value in cases of rare entities and uncommon locations.

Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.

Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence of ARMs and CSS in an individual by chance is unexpected since both diseases are very rare. A review of the literature enabled us to identify 10 other individuals with both CSS and ARMs. Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4. This more frequent than expected association between CSS and ARM indicates that some ARMs are most likely part of the CSS spectrum, especially for ARID1A-related CSS.

Imaging and blood flow characteristics of cerebrovascular fenestration malformation and its relationship with the occurrence of ischemic cerebrovascular disease.

OBJECTIVE: To explore the imaging and transcranial Doppler cerebral blood flow characteristics of cerebrovascular fenestration malformation and its relationship with the occurrence of ischemic cerebrovascular disease. METHODS: A retrospective analysis was conducted on the imaging data of 194 patients with cerebrovascular fenestration malformation who visited the Heyuan People's Hospital from July 2021 to July 2023. The location and morphology of the fenestration malformation blood vessels as well as the presence of other cerebrovascular diseases were analyzed. Transcranial Doppler cerebral blood flow detection data of patients with cerebral infarction and those with basilar artery fenestration malformation were also analyzed. RESULTS: A total of 194 patients with cerebral vascular fenestration malformation were found. Among the artery fenestration malformation, basilar artery fenestration was the most common, accounting for 46.08% (94/194). 61 patients (31.44%) had other vascular malformations, 97 patients (50%) had cerebral infarction, of which 30 were cerebral infarction in the fenestrated artery supply area. 28 patients with cerebral infarction in the fenestrated artery supply area received standardized antiplatelet, lipid-lowering and plaque-stabilizing medication treatment. During the follow-up period, these patients did not experience any symptoms of cerebral infarction or transient ischemic attack again. There were no differences in peak systolic flow velocity and end diastolic flow velocity, pulsatility index and resistance index between the ischemic stroke group and the no ischemic stroke group in patients with basal artery fenestration malformation (P > 0.05). CONCLUSION: Cerebrovascular fenestration malformation is most common in the basilar artery. Cerebrovascular fenestration malformation may also be associated with other cerebrovascular malformations. Standardized antiplatelet and statin lipid-lowering and plaque-stabilizing drugs are suitable for patients with cerebral infarction complicated with fenestration malformation. The relationship between cerebral blood flow changes in basilar artery fenestration malformation and the occurrence of ischemic stroke may not be significant.

Clinical analysis of surgical outcome of 89 patients having large cerebral arteriovenous malformations.

OBJECTIVE: The article analyzes the clinical features, morphological characteristics, surgical subtleties and long-term outcome of surgery in 89 cases of 'large' sized AVMs. MATERIALS AND METHODS: During the period 2004 to 2022, 89 cases of 'large' arteriovenous malformations were operated in the neurosurgery departments of the authors. Large AVMs were defined as those that were more than 4 cm on either lateral or antero-posterior view of digital subtraction angiogram. The factors that determined the extent of surgical difficulties included site and eloquence of the area, number of feeding vascular territories and draining veins, degree and rate of flow, presence of flow-related aneurysms, and the physical nature of the arteriovenous malformation. RESULTS: There were 59 males and 30 females and the average age was 32 years. Headache, giddiness and convulsions were the common presenting complaints. Six patients were unconscious after surgery. Of these, five patients died in the immediate post-operative period and one patient gradually recovered. Additionally, seven patients developed unilateral limb weakness that included hemiplegia (4 patients) and hemiparesis (3 patients) following surgery. Clinical follow-up ranged from 6 months to 18 years (average 43 months). All surviving patients are leading normal and essentially symptom free life and have recovered from their symptoms of headache, convulsions and giddiness. CONCLUSIONS: Large AVMs are amenable to 'curative' surgery with 'acceptable' results. The surgery can be challenging and appropriate case selection that is based on the surgeons experience is vital and decisive.

Spatial transcriptomics reveals gene interactions and signaling pathway dynamics in rat embryos with anorectal malformation.

Anorectal malformation (ARM) is a prevalent early pregnancy digestive tract anomaly. The intricate anatomy of the embryonic cloaca region makes it challenging for traditional high-throughput sequencing methods to capture location-specific information. Spatial transcriptomics was used to sequence libraries of frozen sections from embryonic rats at gestational days (GD) 14 to 16, covering both normal and ARM cases. Bioinformatics analyses and predictions were performed using methods such as WGCNA, GSEA, and PROGENy. Immunofluorescence staining was used to verify gene expression levels. Gene expression data was obtained with anatomical annotations of clusters, focusing on the cloaca region's location-specific traits. WGCNA revealed gene modules linked to normal and ARM cloacal anatomy development, with cooperation between modules on GD14 and GD15. Differential gene expression profiles and functional enrichment were presented. Notably, protein levels of Pcsk9, Hmgb2, and Sod1 were found to be downregulated in the GD15 ARM hindgut. The PROGENy algorithm predicted the activity and interplay of common signaling pathways in embryonic sections, highlighting their synergistic and complementary effects. A competing endogenous RNA (ceRNA) regulatory network was constructed from whole transcriptome data. Spatial transcriptomics provided location-specific cloaca region gene expression. Diverse bioinformatics analyses deepened our understanding of ARM's molecular interactions, guiding future research and providing insights into gene regulation in ARM development.