Search Results (8)

The mechanisms of epileptogenesis after brain injury, ischemic stroke, or brain tumors have been extensively studied. As a result, many effective antiseizure drugs have been developed. However, there are still many patients who are resistant to therapy. The molecular and genetic bases regarding such drug-resistant seizures have been poorly elucidated. In many cases, heavy seizures are instigated by brain development malformations and often caused by gene mutations. Such malformations can be demonstrated in mouse models by generating mutant strains. One of the most potent mutagens is ENU (N-ethyl-N-nitrosourea). In the present study, we describe three novel mutant strains generated by ENU-directed mutagenesis. Two of these strains present a very strong epileptic phenotype triggered by audiogenic stimuli (G9-1 and S5-1 strains). The third mouse strain is characterized by behavioral disorders and hyperexcitation of neuronal networks. We identified changes in the expression of those genes encoding neurotransmission proteins in the cerebral cortexes of these mice. It turned out that the G9-1 strain demonstrated the strongest disruptions in the expression of those genes encoding plasma membrane channels, excitatory glutamate receptors, and protein kinases. On the other hand, the number of GABAergic neurons was also affected by the mutation. All three lines are characterized by increased anxiety, excitability, and suppressed motor and orientational–exploratory activities. On the other hand, the strains with an epileptic phenotype—G9-1 and S5-1ave reduced learning ability, and the A9-2 mice line retains high learning ability. Full article

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. Full article

Purpose: To report a series of three patients with traumatic renal AV fistulas after blunt renal laceration. Methods: We retrospectively analyzed the renal trauma cases treated in the Department of Urology of Salzburg University Clinic during a time period of 10 years concerning traumatic AV fistula formation and other clinical parameters. Results: In total, 3 cases of traumatic AV fistula formation were identified in 106 blunt renal trauma patients (2.8%), with a mean age of 39 (17–56) years. All renal traumas were classified as American Association for the Surgery of Trauma (AAST) grade IV. Two patients were primarily treated with ureteral stent; one was managed conservatively. All AV fistulas were diagnosed after a mean time of 7 (1–13) days. Two patients were symptomatic with gross hematuria, and the mean time between trauma and onset of symptoms was 11 (9–13) days. All cases were managed via coil embolization after a mean of 10 (8–13) days. Two patients received a second intervention after a mean of 18 (11–25) days. The mean AV fistula size was 18.7 (12–24) mm. Mean hemoglobin loss was 3.6 g/dL. One patient received one erythrocyte concentrate. Discharge was after a mean time of 13.3 (7–12) days, with the mean time of intensive care treatment being 2.3 (1–3) days. Conclusions: Traumatic renal AV fistula is a rare but severe complication associated with higher-grade renal trauma. It can become evident through hematuria or blood loss several days after the initial trauma. The availability of coil embolization in a trauma center can help kidney preservation management. Full article

Background: A vein of Galen aneurysmal malformation (VGAM) is a rare congenital cerebral vascular condition with a high mortality rate if left untreated. This study describes the long-term outcomes of patients with VGAM, who were treated with endovascular embolization. Methods: This retrospective analysis focused on VGAM patients who underwent one or more endovascular embolization sessions between January 2008 and December 2022. The study included newborns and children under 18 years. Data encompassed clinical and demographic characteristics, types of endovascular embolization, treatment complications, mortality rates, and long-term outcomes. Results: Out of 22 VGAM cases, the majority were boys (86.36%), and the average age of the participants was 38 months, ranging from 25 days to 17 years. Endovascular embolization using liquid embolizing agents was the most common intervention (50%), and around 73% of patients underwent multiple sessions. Some patients underwent ventriculoperitoneal shunting (VPS) due to persistent hydrocephalus. In long-term outcomes, four patients (18.2%) showed developmental delays, and 16 patients (72.7%) had a positive outcome. Conclusions: Combining endovascular therapy with a comprehensive management strategy significantly reduces mortality rates and improves the possibility of normal neurological development in patients. Full article

Hemangiomas are benign blood vessel and capillary tumor growths which are widespread in many organs but extremely rare in the bladder, making up just 0.6% of all bladder tumors. To the best of our knowledge, few cases of bladder hemangioma are associated with pregnancy in the literature, and no bladder hemangiomas have been discovered incidentally after abortion. The use of angioembolization is well established; however, postoperative follow-up is crucial to identify tumor recurrence or residual disease. Case presentation: In 2013, a 38-year-old female was referred to a urology clinic with an incidental finding after an abortion of a large bladder mass identified incidentally using ultrasound (US). The patient was recommended for CT, which reported a polypoidal hypervascular lesion, as previously described arising from the urinary bladder wall. Diagnostic cystoscopy showed a large, bluish-red, pulsatile, vascularized submucosal mass with large dilated submucosal vessels, a wide-based stalk, and no active bleeding in the posterior wall of the urinary bladder, measuring about 2 × 3 cm, with negative urine cytology. Due to the vascular nature of the lesion and no active bleeding, the decision was made not to biopsy. The patient underwent angioembolization and scheduled for US every six months with regular diagnostic cystoscopy. In 2018, at 5 years of follow-up, the patient developed recurrence after a successful pregnancy. The angiography revealed recanalization of the previously embolized left superior vesical arteries from the anterior division of the left internal iliac artery, resulting in arteriovenous malformation (AVM). The second angioembolization was performed, with the total exclusion of AVM without residual. By the end of 2022, the patient had remained asymptomatic and without recurrence. Conclusion: Angioembolization is a safe treatment technique, minimally invasive, and has less effect on the quality of life, especially in young patients. Long-term follow-up is essential for detecting tumor recurrence or residual disease. Full article

Spinal arteriovenous shunts (sAVSs) are an uncommon disease, constituting 3 to 4% of intradural lesions; 70% of these lesions are spinal arteriovenous fistulas (sAVFs), whereas spinal arteriovenous malformations (sAVMs) are rarer. Both share the problem of their classification due to the heterogeneity of their angioarchitecture. The aim of this study is to report a series of sAVSs treated in the neurosurgery department of the Hospital Nacional Guillermo Almenara during the 2018–2020 period and to present an overview of the current literature on sAVS classification. We reviewed all medical records of patients diagnosed with sAVFs and sAVMs during the 2018–2020 period, and then we analyzed images with Horos v4.0.0, illustrated some cases with Clip Studio Paint v1.10.5, and performed a descriptive statistical analysis with SPSS v25. Twelve patients were included in this study, eight of which were women (67%) and four of which were men (33%); the age range was from 3 to 74 years. Eight sAVSs were sAVFs, whereas four were sAVMs. The most frequent clinical manifestation was chronic myelopathy in seven patients (58%). Of those treated only by embolization, seven (70%) resulted in complete occlusion (five sAVFs and two sAVMs), while three (30%) remained with a residual lesion. At last follow-up, five patients (42%) improved clinically, and the seven remaining (58%) maintained the same neurological state. sAVSs require a detailed study of their angioarchitecture for proper management. The endovascular treatment is safe with acceptable cure rates. The surgical option should not be set aside. Full article

Among the three transforming growth factor beta (TGFβ) ligands, TGFβ2 is essential for heart development and is produced by multiple cell types, including myocardium. Heterozygous mutations in TGFB2 in patients of connective tissue disorders result in congenital heart defects and adult valve malformations, including mitral valve prolapse (MVP) with or without regurgitation. Tgfb2 germline knockout fetuses exhibit multiple cardiac defects but the role of myocardial-TGFβ2 in heart development is yet to be elucidated. Here, myocardial Tgfb2 conditional knockout (CKO) embryos were generated by crossing Tgfb2^flox mice with Tgfb2^+/−; cTntCre mice. Tgfb2^flox/− embryos were normal, viable. Cell fate mapping was done using dual-fluorescent mT/mG^+/− mice. Cre-mediated Tgfb2 deletion was assessed by genomic PCR. RNAscope in situ hybridization was used to detect the loss of myocardial Tgfb2 expression. Histological, morphometric, immunohistochemical, and in situ hybridization analyses of CKOs and littermate controls at different stages of heart development (E12.5–E18.5) were used to determine the role of myocardium-derived TGFβ2 in atrioventricular (AV) cushion remodeling and myocardial development. CKOs exhibit a thin ventricular myocardium, AV cushion remodeling defects and developed incomplete AV septation defects. The loss of myocardial Tgfb2 resulted in impaired cushion maturation and dysregulated cell death. Phosphorylated SMAD2, a surrogate for TGFβ signaling, was “paradoxically” increased in both AV cushion mesenchyme and ventricular myocardium in the CKOs. Our results indicate that TGFβ2 produced by cardiomyocytes acting as cells autonomously on myocardium and via paracrine signaling on AV cushions are required for heart development. Full article

Objective. Arteriovenous malformations (AVMs) are an uncommon vascular pathology that remains challenging to accurately diagnose and successfully treat. This study introduces a novel way to evaluate AVM treatment outcomes using transarterial lung perfusion scintigraphy (TLPS) and reports our treatment results.
Material and Methods. The patients treated for extracranial AVMs were studied retrospectively. Diagnosis and outcomes were based on clinical data, ultrasonography, magnetic resonance imaging, computed tomography, angiography, and TLPS studies. The influence of gender; location, form, and stage of AVMs; first attempt at treatment; and treatment modalities was analyzed. Outcomes were defined as positive (cure, improvement, and remission) or negative (no remission and aggravation).
Results. Of the 324 patients with congenital vascular malformations, 129 (39.8%) presented with AVMs, and the data of 56 treated patients with AVMs were analyzed. Of the 29 patients in the endovascularly treated group, 15 in the surgically treated group, and 12 in the combined treatment group, 24 (82.8%), 14 (93.3%), and 10 patients (83.3%), respectively, had positive outcomes (P>0.05). All outcomes were positive in surgically treated patients with extratruncular limited AVMs, and these patients were more likely to be cured as compared with those who had other forms of AVMs (OR, 5.8; 95% CI, 1.1–29; P=0.02). The patients with more advanced AVMs (stages III and IV) and with AVMs in the gluteal and pelvic region were more likely to have the worst outcomes than those with stage II AVMs (OR, 8.2; 95% CI, 1–72; P=0.03) and with AVMS in other locations (OR, 5.8; 95% CI, 1.1–29; P=0.02), respectively. Gender and age did not significantly influence treatment results (P>0.05). The TLPS data of 17 patients showed AV shunting ranging from 0% to 92%, which combined with other results helped identify 9 patients who needed further interventions, 6 who were treated successfully, and 2 who had insignificant shunting.
Conclusions. The best outcomes were achieved in surgically treated patients with localized lesions and less advanced AVMs. For the first time in Lithuania, a modified TLPS method has been introduced that enhances a hemodynamic assessment of AV shunting and provides with a more accurate evaluation of AVMs to better serve in planning future treatments. Full article