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Aim: To determine the clinical relevance of a rigid endoscopy surgical method for subdural hematomas, as previously described in a cadaver study., Material and Methods: Between May 2021 and September 2023, 21 patients underwent subdural hematoma drainage using a 0-degree rigid endoscope. Traumatic acute subdural hematomas were excluded. The demographic data of the patients, antiplatelet/ antiaggregant use, perioperative findings, and pre- and post-surgery modified Rankin Scale (mRS) scores were recorded and analyzed., Results: The mean age of our cohort was 65.63 (±20.52), and the male/ female ratio was 3.2: 1. The hematoma was unilateral in 90.5% of the patients, and the rate of trauma history was 42.9%. The most common radiological diagnosis was chronic subdural hematoma with septa (61.9%). The percentage of patients with a history of antiplatelet/ antiaggregant therapy was 23.8%. No mortality related to the surgery was observed in the early postoperative period; however, two patients underwent reoperation for further bleeding. The neurological grade was the only preoperative factor that had a statistically significant effect on the mRS score at discharge, with significantly better discharge mRS scores in grade 1 and 2 patients (p=0.014)., Conclusion: The procedure was found to be safe and feasible, with surgery-related morbidity and mortality within acceptable limits.

Aim: To compare T1-weighted contrast-enhanced (T1+C) with fast imaging employing steady-state acquisition (FIESTA) magnetic resonance imaging (MRI) sequences to protect healthy brain tissue during meningioma treatment with Gamma-Knife radiosurgery (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.

Aim: To evaluate and compare open cranial vault remodeling (OCVR) and endoscopy-assisted craniosynostosis surgery (EACS) in patients with non-syndromic craniosynostosis and to develop an algorithm to determine the most appropriate surgery for each patient., Material and Methods: Eighty-five children with craniosynostosis who underwent surgery between 2010 and 2022 were retrospectively analyzed. Demographic data, comorbidities, and peri-operative findings of the patients were recorded. Pre- and post-operative comparisons were made between predetermined measurement techniques for each deformation. In addition, measurements were obtained by computed tomography (CT) or 3D stereophotogrammetric (3DSPG) methods from eligible patients and compared with one another., Results: In our study, 61 patients underwent EACS, whereas 24 underwent OCVR. The operating time of OCVR was approximately 54.4 minutes longer than that of EACS (p < 0.001). The intra-operative blood loss was around 139 ml higher in OCVR (p < 0.001). The length of hospital stay for patients who underwent EACS was shorter at 8.4 days on average (p < 0.001). Surprisingly, 5 complications were observed in OCVR compared with 7 in EACS. While the cosmetic outcome of EACS was superior in most of the pathologyspecific measurement techniques, the metopic index increased only in patients with metopic synostosis after both surgical operations. Still, this increase was lower in EACS than in OCVR., Conclusion: This study suggests that endoscopic craniosynostosis surgery has lower estimated blood loss and operation and hospitalization times, as well as comparable cosmetic results compared with open vault surgeries on long-term follow-up. CT and 3DSPG methods can help distinguish between different types of measurement techniques for synostoses. However, no significant differences were found in the comparisons since 3DSPG can also provide reliable measurements comparable to those on CT during follow-up.

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.

Objective: The aim of this study was to determine DNA damage during euthymic and attack periods, and the oxidative metabolism states that may cause this damage in the pathophysiology of bipolar disorder. The role of DNA repair mechanisms in this process was also investigated., Method: The study included a total of 90 patients aged between 18-65 years who were diagnosed with bipolar disorder according to DSM- 5 diagnostic criteria, with 30 patients in euthymic, 30 in manic and 30 in depressive periods. A control group was formed of 30 healthy subjects matched to the patients by age, gender, body mass index and smoking status and/or alcohol consumption. Oxidative metabolism was investigated using the Comet Assay technique to assess DNA damage, according to the oxidant/antioxidant status in the technique developed by Erel with the Rel ASSAY Diagnostics kit (Turkey). The control and patient groups were compared in respect of gene expression levels of OGG1 and NEIL1 repair genes at mRNA level with Real-Time PCR., Results: Increased DNA damage was found in the euthymic and manic groups and decreased NEIL1 gene expression in the depressive group. The oxidative stress index was found to be decreased in the patient groups compared to the healthy control group., Conclusion: Oxidative imbalance and DNA damage and repair disorders may be effective in the pathophysiology of bipolar disorder. Further studies on this subject are required to clarify the etiology and new treatment goals.

Objective: Epilepsy is a chronic brain disease and is estimated to affect more than 50 million people worldwide.Epilepsy is a polygenic and multifactorial disease.Genetic causes play a major role in 40-60 % of all epilepsies.Copy number variations(CNVs) have been reported in approximately 5-12 % of patients with different types of epilepsy.Here we aimed to determine the diagnostic yield of the aCGH in epilepsy and to reveal new candidate genes and CNVs by analyzing aCGH data retrospectively., Methods: The clinical data of 80 patients with the diagnosis of epilepsy were examined retrospectively and the raw data of aCGH of these patients were reanalyzed in the light of current literature., Results: Pathogenic/likely pathogenic CNVs were detected in 14 of 80 patients and 12 of these CNVs (15 %) were associated with epilepsy phenotype. In addition, 18 CNVs in 16 different chromosomal loci that were evaluated as the variant of unknown clinical significance(VOUS). In four cases (5%), CNVs associated with epilepsy were less than 100 kb and these accounted for 13.3 % of all epilepsy associated CNVs., Conclusion: The diagnostic yield of aCGH in epilepsy patients was found to be higher than most studies in the literature. MACROD2,ADGRB3(BAI3),SOX8,HIP1,PARK2 and TAFA2 genes were evaluated as potential epilepsy-related genes and NEDD9,RASAL2 and TNR genes thought to be the candidate genes for epilepsy. Our study showed that the diagnostic efficiency of aCGH in epilepsy is high and with more comprehensive studies, it will contribute to the elucidation of genes involved in genetic etiology in epilepsy patients., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Blau syndrome is an autosomal dominant rare disease caused by mutations in NOD2 gene. Less than 200 patients published with Blau Syndrome Worldwide. We reported a 41-year old female Turkish patient diagnosed as Blau syndrome. Granulomatous dermatitis and severe headache, as well as recurrent chest and pelvic pain have been present since she was 8 years old. Arthritis started when she was teenage, hypertension diagnosed when she was 20 and other symptoms also occurred during the lifetime (severe preeclampsia, ischemic stroke, recurrent hemiparesis, recurrent-transient-vision-loss and renal-artery-stenosis). Genomic DNA was isolated from peripheral blood and 12 genes sequenced in Autoinflammatory panel on IonTorrent-S5-NGS platform with Parseq-VariFind™AIPassay. NGS analysis showed 107 variants in in the index case, mainly benign with no strong association with Blau syndrome. Additionally, we identified one very rare missense mutation in NOD2 gene (c2803G>A, p.Val935Met) and in silico assessment of the mutation indicated possible pathogenic significance and strong association with Blau syndrome. In addition, we analyzed family members of the index case and identified the same mutation in NOD2 gene. The segregation analysis shows the presence of the same mutant allele in NOD2 gene in the index case affected sister, as well as in her son with arthralgia, while in her non affecter brother we didn't detect the Val935Met mutation in NOD2 gene. Blau Syndrome is known as a very rare disease, mainly caused by mutations in NOD2 gene. Missense mutation diagnosed in our case could be responsible for the phenotype of the index case. Our results indicate the importance of NGS testing and its major role in the detection of rare mutations that may responsible for the onset of autoinflammatory disorders.

V-type proton (H+) ATPase (v-ATPase) is a multi-subunit proton pump that regulates pH homeostasis in all eukaryotic cells; in neurons, v-ATPase plays additional and unique roles in synapse function. Through whole exome sequencing, we identified de novo heterozygous mutations (p.Pro27Arg, p.Asp100Tyr, p.Asp349Asn, p.Asp371Gly) in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental encephalopathy with epilepsy. Early manifestations, observed in all patients, were developmental delay and febrile seizures, evolving to encephalopathy with profound delay, hypotonic/dyskinetic quadriparesis and intractable multiple seizure types in two patients (p.Pro27Arg, p.Asp100Tyr), and to moderate delay with milder epilepsy in the other two (p.Asp349Asn, p.Asp371Gly). Modelling performed on the available prokaryotic and eukaryotic structures of v-ATPase predicted p.Pro27Arg to perturb subunit interaction, p.Asp100Tyr to cause steric hindrance and destabilize protein folding, p.Asp349Asn to affect the catalytic function and p.Asp371Gly to impair the rotation process, necessary for proton transport. We addressed the impact of p.Asp349Asn and p.Asp100Tyr mutations on ATP6V1A expression and function by analysing ATP6V1A-overexpressing HEK293T cells and patients' lymphoblasts. The p.Asp100Tyr mutant was characterized by reduced expression due to increased degradation. Conversely, no decrease in expression and clearance was observed for p.Asp349Asn. In HEK293T cells overexpressing either pathogenic or control variants, p.Asp349Asn significantly increased LysoTracker® fluorescence with no effects on EEA1 and LAMP1 expression. Conversely, p.Asp100Tyr decreased both LysoTracker® fluorescence and LAMP1 levels, leaving EEA1 expression unaffected. Both mutations decreased v-ATPase recruitment to autophagosomes, with no major impact on autophagy. Experiments performed on patients' lymphoblasts using the LysoSensor™ probe revealed lower pH of endocytic organelles for p.Asp349Asn and a reduced expression of LAMP1 with no effect on the pH for p.Asp100Tyr. These data demonstrate gain of function for p.Asp349Asn characterized by an increased proton pumping in intracellular organelles, and loss of function for p.Asp100Tyr with decreased expression of ATP6V1A and reduced levels of lysosomal markers. We expressed p.Asp349Asn and p.Asp100Tyr in rat hippocampal neurons and confirmed significant and opposite effects in lysosomal labelling. However, both mutations caused a similar defect in neurite elongation accompanied by loss of excitatory inputs, revealing that altered lysosomal homeostasis markedly affects neurite development and synaptic connectivity. This study provides evidence that de novo heterozygous ATP6V1A mutations cause a developmental encephalopathy with a pathomechanism that involves perturbations of lysosomal homeostasis and neuronal connectivity, uncovering a novel role for v-ATPase in neuronal development.