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Epigenetic modifications, particularly DNA methylation, have emerged as regulators of gene expression and are implicated in various biological processes and disease states. Understanding the factors influencing the epigenome is essential for unraveling its complexity. In this study, we aimed to identify how the methylome of buccal epithelial cells, a noninvasive and easily accessible tissue, is associated with demographic and health-related variables commonly used in clinical settings, such as age, sex, blood immune composition, hemoglobin levels, and others. We developed a model to assess the association of multiple factors with the human methylome and identify the genomic loci significantly impacted by each trait. We demonstrated that DNA methylation variation is accurately modeled by several factors. We confirmed the well-known impact of age and sex and unveiled novel clinical factors associated with DNA methylation, such as blood neutrophils, hemoglobin, red blood cell distribution width, high-density lipoprotein cholesterol, and urea. Genomic regions significantly associated with these traits were enriched in relevant transcription factors, drugs, and diseases. Among our findings, we showed that neutrophil-impacted loci were involved in neutrophil functionality and maturation. Similarly, hemoglobin-influenced sites were associated with several diseases, including aplastic anemia, and the genomic loci affected by urea were related to congenital anomalies of the kidney and urinary tract. Our findings contribute to a better understanding of the human methylome plasticity and provide insights into novel factors shaping DNA methylation patterns, highlighting their potential clinical implications as biomarkers and the importance of considering these physiological traits in future medical epigenomic investigations.NEW & NOTEWORTHY We have developed a quantitative model to assess how the human methylome is associated with several factors and to identify the genomic loci significantly impacted by each trait. We reported novel health-related factors driving DNA methylation patterns and new site-specific regulations that further elucidate methylome dynamics. Our study contributes to a better understanding of the plasticity of the human methylome and unveils novel physiological traits with a potential role in future medical epigenomic investigations.
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Epigênese Genética , Epigenoma , Humanos , Metilação de DNA/genética , Células Epiteliais , Hemoglobinas , UreiaRESUMO
OBJECTIVE: Enhanced recovery after surgery (ERAS) protocols are standardized perioperative care that reduce patients' stress response during hospitalization and improve hospitalization time, complication rates, costs, and readmission rates. This study aimed to investigate the application rate of protocols for elective craniotomy in the surgery of unruptured anterior circulation aneurysms (AnCAs) at tertiary-level healthcare (TLH) institutions in Türkiye and its effect on the outcomes of the patients. METHODS: An electronic survey was sent to all Turkish TLH institutions (n = 127) between May and June 2023. The number of institutions participating in the survey was 38 (30%). The institutions were subdivided according to three main factors: institution type (university hospital [UH] vs training and research hospital [TRH]), annual case volume (low [≤ 20 aneurysms] vs high [> 20 aneurysms]), and institution accreditation status (accredited vs nonaccredited). RESULTS: Overall, 55.3% (n = 21) of the institutions participating in the study were UHs. The rates of those that were accredited and had a high case volume were 55.3% (n = 21) and 31.6% (n = 12), respectively. It was determined that the accredited clinics applied preoperative protocols at a higher rate (p = 0.050), and the length of stay in the postoperative period was shorter in the clinics that used the intraoperative protocols (p = 0.014). CONCLUSIONS: The length of stay in the postoperative period is lower in TLH institutions in Türkiye that highly implement intraoperative protocols. Furthermore, this is the first study in the literature evaluating protocols for elective craniotomy in unruptured AnCAs.
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Recuperação Pós-Cirúrgica Melhorada , Aneurisma Intracraniano , Humanos , Hospitalização , Aneurisma Intracraniano/cirurgia , Craniotomia , Complicações Pós-Operatórias/cirurgia , Atenção à Saúde , Tempo de InternaçãoRESUMO
OBJECTIVE: Despite the relatively high success of surgical clipping of supraclinoid segment aneurysms of the internal carotid artery (ICA), flow diverter (FD) stent therapy is becoming increasingly used for these aneurysms. This study aims to evaluate the characteristics of FD placement for unruptured ICA supraclinoid segment aneurysms at 6 different centers with different experience levels in Türkiye. METHODS: In this retrospective, multicenter study, the authors reviewed the demographic information, aneurysm shape/dimensions (neck, aspect ratio, dome/neck ratio, and maximum diameter), preoperative antiplatelet regimen, FD stent brand, perioperative complications, intervention time, clinical (modified Rankin Scale) and radiological (O'Kelly-Marotta [OKM] grading scale) outcomes, and follow-up time of 54 patients. RESULTS: A total of 55 interventions for 61 aneurysms (58 supraclinoid ICA aneurysms) were performed in the 54 patients included in the study. The female/male ratio in this population was 44/10, and the mean age was 53.5 ± 13.6 (range 21-82) years. The most common form and location of the aneurysms were saccular 91.4% (53/58) and ophthalmic segment 69% (40/58), respectively. The preferred antiplatelet regimen was acetylsalicylic acid plus ticagrelor 50% (27/54). The overall complication rate was 25.5% (14/55), and the mean follow-up time was 25.76 ± 17.88 months. The successful radiological outcome (OKM grade C or D) rate at the 6-month follow-up was 92.6%. No perioperative complications led to any permanent or transient neurological deficit. CONCLUSIONS: The results of this first multicenter study evaluating FD stent use for unruptured ICA supraclinoid segment aneurysms showed that FD stent treatment is a feasible method for replacing clipping and coil embolization with manageable complications and a high success rate.
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Procedimentos Endovasculares , Aneurisma Intracraniano , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Doenças das Artérias Carótidas , Artéria Carótida Interna/cirurgia , Embolização Terapêutica/métodos , Procedimentos Endovasculares/métodos , Aneurisma Intracraniano/cirurgia , Estudos Retrospectivos , Stents/efeitos adversos , Resultado do TratamentoAssuntos
Dissecação da Artéria Carótida Interna , Acidente Vascular Cerebral , Adolescente , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/cirurgia , Dissecação da Artéria Carótida Interna/diagnóstico por imagem , Dissecação da Artéria Carótida Interna/etiologia , Angiografia Cerebral , HumanosRESUMO
AIM: T1-weighted contrast-enhanced (T1+C) magnetic resonance imaging (MRI) sequences are usually used for planning meningioma treatment via Gamma-Knife radiosurgery (GKRS). However, practitioners should refrain from using contrast agents because of allergies or other systemic diseases. The fast imaging employing steady-state acquisition (FIESTA) sequence is a high-resolution T2-weighted MRI sequence with a high signal-to-noise ratio that provides good image contrast without using any contrast agent. However, in T1+C sequences, the tumor size appears more prominent due to the contrast agent effect, especially in meningiomas with sinus invasion. Thus, normal anatomical structures may be exposed to radiation. Therefore, we aimed to compare T1+C with FIESTA MRI sequences to protect healthy brain tissue during meningioma treatment with GKRS. MATERIAL AND METHODS: After reviewing the data of 54 patients with solitary meningioma who underwent GKRS between January 2020 and June 2022, demographic characteristics were noted, tumor volumes on T1+C and FIESTA MRI sequences were measured, and sequences were compared. The patients were then divided into two groups according to the presence of invasion to intracranial venous sinuses (groups 1 and 2, respectively). SPSS 11.5 software was used for data analysis, with the level of significance set at 0.05. RESULTS: While no significant age and tumor size differences were observed between groups 1 and 2, sinus invasion was significantly higher among males. Tumor volumes measured in both groups were significantly smaller on FIESTA sequences than on T1+C sequences. CONCLUSION: The T1+C sequence has been the primary imaging method because of meningiomas\' high contrast enhancement feature. However, the T1+C sequence during GKRS planning is an effective imaging method in treating meningiomas; FIESTA sequences can more precisely delineate the tumor border. In this study, we consider that using the FIESTA/CISS sequence MRI for planning meningioma therapy with Gamma-Knife can reduce target volume and prevent irradiation of healthy brain tissue.
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Giant serpentine aneurysms (GSAs) are a rare subgroup of intracranial aneurysms. Separate inflow and outflow flow due to intraluminal thrombosis is the most distinguishing feature of GSAs. In treating these lesions, surgical clipping and ligation were the main treatments in the past, but bypass for revascularisation and endovascular therapies (EVTs) for deconstructive purposes are more prominent today. A 51-years-old male patient presented with headache and mild right hemiparesis. He had a GSA arising from the left fetal type posterior cerebral artery (fPCA) that was out of follow-up for six years. Radiological images revealed midline shifting and mesencephalon compression. We performed endovascular parent artery coil occlusion. The symptoms of the patient improved at the first-month follow-up. Even if there is a mass effect in GSAs, deconstructive EVT is a safe and feasible method for managing these lesions.
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AIM: To define a novel autologous bone graft insertion technique, and to evaluate its effects on bone fusion in patients with lumbar stenosis who underwent laminoplasty. MATERIAL AND METHODS: Fifty-six patients and 142 vertebrae that underwent autologous bone graft insertion technique between 2009 and 2018 were analysed retrospectively. Demographic data, comorbidities, and perioperative findings of patients were recorded. The midline anteroposterior (AP) diameter was measured at the bone graft insertion levels, and fusion formation was evaluated with computed tomography (CT) and dynamic X-Ray images. Pain scores were assessed preoperatively with the visual analogue scale (VAS) for both legs and Oswestry Disability Index (ODI) for overall life quality. Scores were re-evaluated on 1 < sup > st < /sup > day, at 3 < sup > rd < /sup > , and 12 < sup > th < /sup > months, postoperatively. RESULTS: Degenerative spinal stenosis was present in 56 patients who underwent autologous bone graft insertion technique. It was found that the diameter of the spinal canal increased by 37% in CT measurements. In postoperative radiological followups, fusion developed in 49 (87.5%) patients. There was a statistically significant decrease in both VAS and ODI scores in the postoperative period when compared to the preoperative evaluations. CONCLUSION: Bone graft insertion technique supports posterior fusion and protects against dural injuries during revision surgery by creating a barrier over the dura. The prevention of epidural fibrosis formation reduces the symptoms of the postlaminectomy syndrome. The fact that this technique does not require fixation material. Therefore, it reduces expenditure and eliminates the risk of complications related to synthetic materials.
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Laminoplastia , Fusão Vertebral , Estenose Espinal , Constrição Patológica/etiologia , Humanos , Laminoplastia/métodos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Estudos Retrospectivos , Fusão Vertebral/métodos , Estenose Espinal/diagnóstico por imagem , Estenose Espinal/etiologia , Estenose Espinal/cirurgia , Resultado do TratamentoRESUMO
Hypertrophic pachymeningitis (HP) is a rare clinical entity of diverse etiology, characterized by a chronic inflammation that causes dura thickening. Reports of Idiopathic hypertrophic cranial pachymeningitis (IHCP) were related to infections, trauma, tumors, and rheumatologic conditions. It was first described by Charcot and Joffroy regarding spinal meninges in 1869. HP has three stages; progressive radicular symptoms begin first, then muscle weakness and atrophy start. Findings such as paraplegia, loss of bladder and bowel control, and respiratory distress caused by intercostal and diaphragmatic denervation are considered the third stage of the disease. Especially in the cranial form of the disease, nerve ischemia and various cranial neuropathic findings may occur. Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, and PAI-1 4G-5G gene mutation analysis were measured with an ABI Prism. In this case report, the authors present a case of hypertrophic mutations pachymeningitis with Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, PAI-1 4G-5G, Glycoprotein IIIa L33P gene. In conclusion, we report a case of HP with Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, PAI-1 4G-5G, and Glycoprotein IIIa L33P gene mutations. We emphasize that the identification of pachymeningitis can be easily bypassed with the application of limited laboratory techniques. As in this case report, we think that these mutations should be analyzed in patients diagnosed with pachymeningitis.
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AIM: To report and to discuss our experience of awake craniotomy for the treatment of supratentorial lesions. MATERIAL AND METHODS: We included patients who underwent awake craniotomy for supratentorial tumors between 2007 and 2018. A bipolar stimulation probe was used for patients with eloquent area lesions. The demographic features, presenting symptoms, comorbidities, localization, histopathology, pre- and postoperative Karnofsky performance status, mean operation length, mean length of hospital stay, and intraoperative and postoperative complications were recorded. RESULTS: We included 250 patients (age, 53.5 ± 15.3 years; range, 15?90 years; 105 females and 145 males) mostly with metastasis (46%). The tumor resection rate was 90 ± 3.6%. Of 30 patients (12%) who experienced an increase in weakness, 26 experienced improvements within three days, and the remainder had permanent symptoms. Intraoperative and postoperative seizures occurred in three (1.2%) and seven (2.8%) patients, respectively, which were controlled by antiepileptic drugs. Dysphasia occurred intraoperatively in seven patients (2.8%) but improved in a month. The mean follow-up duration was 31.8 ± 11.9 months (range, 7?70 months). No mortality was seen during hospitalization. CONCLUSION: Awake procedures are a good option in supratentorial lesions to avoid the complications of general anesthesia for patients in poor medical condition. To obtain maximal tumor resection and to maintain better quality of life, neurosurgeons should opt for awake craniotomy when necessary.