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Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second midline NCS, metopic NCS (mNCS), using 215 non-Hispanic white case-parent triads. We identified six variants with genome-wide significance (P ≤ 5 × 10–8): rs781716 (P = 4.71 × 10–9; odds ratio [OR] = 2.44) intronic to SPRY3; rs6127972 (P = 4.41 × 10–8; OR = 2.17) intronic to BMP7; rs62590971 (P = 6.22 × 10–9; OR = 0.34), located ~ 155 kb upstream from TGIF2LX; and rs2522623, rs2573826, and rs2754857, all intronic to PCDH11X (P = 1.76 × 10–8, OR = 0.45; P = 3.31 × 10–8, OR = 0.45; P = 1.09 × 10–8, OR = 0.44, respectively). We performed a replication study of these variants using an independent non-Hispanic white sample of 194 unrelated mNCS cases and 333 unaffected controls; only the association for rs6127972 (P = 0.004, OR = 1.45; meta-analysis P = 1.27 × 10–8, OR = 1.74) was replicated. Our meta-analysis examining single nucleotide polymorphisms common to both our mNCS and sNCS studies showed the strongest association for rs6127972 (P = 1.16 × 10–6). Our imputation analysis identified a linkage disequilibrium block encompassing rs6127972, which contained an enhancer overlapping a CTCF transcription factor binding site (chr20:55,798,821–55,798,917) that was significantly hypomethylated in mesenchymal stem cells derived from fused metopic compared to open sutures from the same probands. This study provides additional insights into genetic factors in midline CS.

Background and Objectives: We studied the clinical significance of an amplitude decrement and disappearance alarm criteria in transcranial motor-evoked potential (MEP) monitoring during surgeries on extramedullary tumors at the cervical spine with reference to postoperative morbidity. Material and Methods: We diagnosed and surgically treated fourteen patients with intradural extramedullary ventral or ventrolateral lesions to the cervical spinal cord in the Clinic of Neurosurgery at the University Hospital St Ivan Rilski from January 2018 to July 2022. Eight cases were diagnosed with schwannoma, and the remaining six had meningiomas. The follow-up period for neurological assessment was six months. Results: A decrease in the intraoperative transcranial MEPs of 50% or more compared to baseline in two cases (14.3%) resulted in an immediate postoperative motor deficit. One patient demonstrated full neurological recovery within six months, while the other exhibited only partial improvement. In six cases (42.9%) with preoperative motor deficits, tumor resection and decompression of the cervical spinal cord led directly to an increment of the transcranial MEPs by more than 20%. Postoperatively and at the 6-month follow-up, these patients showed recovery from the preoperative deficits. In the remaining cases, MEPs were stable during surgery with no clinical deterioration of the motor function. Conclusions: The decremented MEP criteria corresponded to postoperative motor deficit, whereas the improvement of the same parameters after decompression implied future recovery of preoperative motor deficits. The combination of different MEP criteria is likely to be helpful when tailored to a specific case of ventral or ventrolateral extramedullary lesions in the cervical spine. [ABSTRACT FROM AUTHOR]

Background: The non traumatic, post inflammatory atlantoaxial rotatory instability, also known as Grisel's syndrome is a relatively rare condition usually affecting children. Adult cases are rare and even less frequently reported with separate case reports describing a single patient. Although antibiotic treatment and close neurological monitoring seem to be the gold standard of care, there is no general consensus on the optimal timing and extent of the surgical treatment. Case Description: We present a case of C1-C2 spondylitis, secondary to retropharyngeal abscess, without atlantoaxial instability on initial evaluation that progressed to C1-C2 subluxation with rapidly developing myelopathy 3 months after optimal antibiotic therapy and complete clinical and biochemical remission. Conclusion: Grisel's syndrome is a rare condition in adults with secondary instability in spite of successful antibacterial treatment, which requires decompression and delayed surgical fixation in our case. [ABSTRACT FROM AUTHOR]

Aim: To investigate the safety and applicability of two main methods for treating mirror intracranial aneurysms, based on correlations in their geometric characteristics., Material and Methods: We conducted a retrospective analysis on 125 patients who underwent 138 surgical interventions for MCA aneurysms and were treated with microsurgical clipping and endovascular embolization at the Department of Neurosurgery in the University Hospital "St. Iv. Rilski", Sofia, in 2013-2019. In six of these cases, we observed mirror MCA aneurysms., Results: All six patients with "mirror" aneurysms were female. In one case, a third aneurysm was observed on the anterior communicating artery; hence, a total of 13 aneurysms were treated. The average age of the group was 48.16 years. All patients had known risk factors, such as high blood pressure and tobacco smoking. Four patients presented with aneurysmal subarachnoid hemorrhage (aSAH). All patients underwent surgical treatment in two stages-with obliteration of the intracranial aneurysm leading to subarachnoid bleeding in the first stage and planned surgical intervention within a month in the second stage to exclude unruptured aneurysms. During the one-month interval, there were no SAH incidents. However, we observed one patient with a postoperative neurological deficit and one with recanalization of the aneurysm on follow-up at 3 months, requiring re-embolization. In both cases, endovascular treatment was performed despite the unfavorable anatomical features (aspect ratio ≤1.5 and neck size ≥4 mm). The clinical outcome, in all operated patients, for "mirror" aneurysms of the MCA was reasonable (mRS: 0-2)., Conclusion: The choice of treatment for "mirror" aneurysms should be determined on an individual basis by the clinical manifestations and morphological characteristics of intracranial aneurysms. In cases of aSAH, where "mirror" aneurysms are present, both can be treated safely via microsurgical clipping or endovascular embolization after thorough investigation and ensuring prioritization of the offending lesion.

Aim: The purpose of this study was to retrospectively evaluate the efficacy of the developed by the authors surgical technique in patients with a radiographically confirmed diagnosis of sagittal craniosynostosis., Material and Methods: 34 children with scaphocephaly underwent surgical treatment with the authors' operative technique. Quantitative assessments of the operative results, based on the preoperative and postoperative (1 year after the procedure) measurements of the cephalic index (cranial width / cranial length x 100), were performed in all patients., Results: The presented original authors' surgical technique resulted in a significantly good skull shape immediately after the procedure. The mean preoperative cephalic index was 64.5, and the mean immediate postoperative index- 75.0, yielding a mean improvement of 10.5. There were no intraoperative complications. One case required a small postoperative correction., Conclusion: The presented operative technique provides immediate and significant surgical correction of the head shape, demonstrated by quantitative measurements using the cephalic index and by photographs.