Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis.

Epilepsy is a common neurological disorder in children. Numerous studies have demonstrated the association between SCN1A polymorphisms and risk of epilepsy in adults, but their role in epilepsy in children has just gained traction and results have remained inconsistent. In this work, we performed a systematic review and meta-analysis to assess the association between SCN1A polymorphisms and risk for epilepsy in children. A systematic literature search was performed in PubMed, Scopus, Web of Science, China National Knowledge Internet, Wanfang and VIP databases to identify eligible studies up to June 2023. Quantitative data synthesis was then performed under five genetic models: dominant, recessive, homozygous, heterozygous, and allele. Five studies involving 1380 subjects were included in the meta-analysis. Among many SCN1A polymorphisms reported, only rs2298771 was repeatedly studied in these reports. Pooled analysis demonstrated that there was no significant association between the polymorphism and risk of epilepsy in children (P>0.05). In conclusion, SCN1A rs2298771 polymorphism was not significantly associated with the risk of epilepsy in children.

Development and External Validation of Nomogram for Cerebral Infarction in Moyamoya Diseases.

More than 60% of moyamoya disease (MMD) patients suffers cerebral ischemia and preoperative cerebral infarction (CI) increases the risk of postoperative stroke and unfavorable outcome. We established a nomogram system for risk stratification of CI to help tailoring individualized management. We enrolled 380 patients including 680 hemispheres for the training cohort from our hospital and 183 patients including 348 hemispheres for the validation cohort from multicenter. A nomogram for CI was formulated based on the multivariable logistic regression analysis. The predictive accuracy and discriminative ability of nomogram were determined with concordance index (C-index) and calibration curve. For the training cohort, 246 hemispheres (36.2%) were found with CI. In multivariable logistic regression used generalized estimating equations approach, anterior choroidal artery (AchA) grade (grade 1, OR 0.214, 95%CI 0.124-0.372, P < 0.001; grade 2, OR 0.132, 95%CI 0.066-0.265, P < 0.001), cerebral perfusion (OR 4.796, 95%CI 2.922-7.872; P < 0.001), white matter hyperintensity (OR 3.652, 95%CI 1.933-6.902; P < 0.001), brush sign (OR 3.555, 95%CI 2.282-5.538; P < 0.001), and ivy sign (equivocal, OR 4.752, 95%CI 2.788-8.099, P < 0.001; present, OR 8.940, 95%CI 4.942-16.173, P < 0.001) were significant factors for CI. The C-index of the nomogram for predicting cerebral infarction was 0.890 (95%CI 0.866-0.915) in the training cohort and 0.847 (95%CI 0.805-0.889) in the validation cohort. The nomogram composed of AchA grade, cerebral perfusion, white matter hyperintensity, brush sign, and ivy sign could provide risk stratification of CI before surgery in patients with MMD. Active treatment might be recommended before CI, which could reduce the risk of stroke after surgery.

Silencing of AKIP1 Suppresses the Proliferation, Migration, and Epithelial-Mesenchymal Transition Process of Glioma Cells by Upregulating DLG2.

Gliomas, the most prevalent brain tumors, account for nearly one-third of the all brain and central nervous system (CNS) tumors diagnosed in the USA. The purpose of this study was to discuss the important role of A kinase-interacting protein 1 (AKIP1) in glioma and reveal the potential mechanism. After prediction by CCLE, the expression of AKIP1 was determined by qRT-PCR and western blot. The impacts of AKIP1 knockdown on the proliferation, migration, and invasion were then measured by MTT, colony formation assay, wound healing, and transwell assays. Western blot was used to assess the protein levels of migration and epithelial-mesenchymal transition- (EMT-) related factors. Subsequently, the expression of Disks Large Homolog 2 (DLG2) was predicted by bioinformatics analyses, and the interaction between AKIP1 and DLG2 was confirmed by IP assay, qRT-PCR, and western blot. Finally, DLG2 was further downregulated in glioma cells to detect the association between AKIP1 and DLG2 in the cellular functions of glioma. It was demonstrated that AKIP1 exhibited a high level in glioma cells, and interference of AKIP1 led to reductions in the proliferation, migration, invasion, and EMT of glioma cells. DLG2, which was lowly expressed in glioma cells, demonstrated a negative link to AKIP2. Inhibition of both AKIP2 and DLG2 counteracted the inhibited cellular behaviors on account of AKIP1 interference. To be concluded, this study presented evidence that AKIP1 silencing suppressed the progression of glioma via targeting DLG2, which could provide novel insights to impede the development of glioma.

Severe chemosis and treatment following fronto-orbital advancement surgery for Crouzon syndrome: A case report.

RATIONALE: Crouzon syndrome is a craniofacial malformation caused by premature fusion of fibrous sutures in infants. It is one of the most common craniosynostosis syndromes, and surgery is the only effective treatment for correcting it. Postoperative complications such as encephalocele, infections, hematoma have been reported. We herein report a case of a 62-month-old boy with Crouzon syndrome who underwent fronto-orbital advancing osteotomy, cranial vault remolding, and extensive osteotomy and subsequently developed left proptosis and severe chemosis, these complications are rare and we believe it will be of use to clinicians, physicians, and researchers alike. PATIENT CONCERNS: The patient's skull had been malformed since birth, and he had been experiencing paroxysmal headaches coupled with vomiting for 4 months. Having never received prior treatment, he underwent fronto-orbital advancement at our clinic; afterward, left proptosis and severe chemosis occurred. DIAGNOSIS: The patient was diagnosed with Crouzon syndrome, and the complications included left proptosis and severe chemosis, confirmed by the clinical manifestations, physical examination, and computed tomography (CT). INTERVENTION: We carried out cranial vault remodeling and fronto-orbital advancement. We applied ophthalmic chlortetracycline ointment on the conjunctivae, elevated the patient's head, evacuated the hematoma, and carried out a left blepharorrhaphy. OUTCOMES: The proptosis and chemosis resolved with no recurrence. No other complications occurred during the follow-up period (12 months), and CT scans revealed that the hematoma had disappeared. The calvarial vault reshaping was satisfactorily performed, and the patient's vision was not impaired. LESSONS: Severe proptosis and chemosis are rare complications that can occur after fronto-orbital advancement for Crouzon syndrome. A detailed preoperative examination (including magnetic resonance imaging and CT) is essential for diagnosis. Complete hemostasis, evacuation of hematoma, and placement of a periorbital drainage tube during surgery all contribute to an effective treatment plan. An ophthalmic ointment should be administered, and the patient's head should be elevated during the procedure. Evacuation of retrobulbar epidural hematoma and blepharorrhaphy could also help relieve proptosis and chemosis. Our report describes 2 rare complications associated with the treatment for Crouzon syndrome, and we believe it will be of use to clinicians, physicians, and researchers alike.

Determination of copper ions in herbal medicine based on click chemistry using an electronic balance as a readout.

The amount of copper affects the quality of herbal medicine greatly, it is necessary to develop some simple and sensitive methods to detect copper for the remote or resource-limited area. An electronic balance is one of the most familiar equipment that can be found nearly in all laboratories. The presence of Cu(i) can catalyze azide-alkyne cycloaddition reaction (called as click chemistry) with high efficiency. In this study, a simple method had been developed to detect copper ions in herbal medicine using an electronic balance as a readout device based on click chemistry. Cu(ii) is reduced to Cu(i) by sodium ascorbate in situ, which induces the "click" reaction between azido-DNA modified magnetic beads (MB-DNA) and alkynyl-DNA modified platinum nanoparticles (Pt NP-DNA) and results in the fixing of the platinum nanoparticles on the beads (called as MB-Pt NPs). MB-Pt NPs can be separated by a magnetic frame easily and transferred into a drainage reaction device containing hydrogen peroxide. Then, hydrogen peroxide can be decomposed by Pt NPs modified on MB to generate oxygen, which increases the pressure in the drainage reaction device and forces the water in the system to be discharged. The weight of the discharged water can be easily and accurately measured by an electronic balance. The weight of the water has a linear relationship with Cu(ii) in the range of 2.0-200 µM and a detection limit of 0.83 µM under 30 min of collected time. This method does not need complicated and expensive instruments, skilled technicians, and a complex data processing process. The proposed method had been applied to detect copper ions in herbal medicine with satisfactory results.

A new method for cranial vault reconstruction: Augmented reality in synostotic plagiocephaly surgery.

PURPOSE: Augmented reality (AR) is considered to be a valuable tool in craniofacial surgery for preoperative design, intraoperative navigation, and postoperative assessment. Corrective surgery is necessary synostotic plagiocephaly for functional and aesthetic outcomes. Open calvarial reconstruction is a difficult classic surgical procedure with a high accuracy requirement. The purpose of this study was to introduce an AR system application in synostotic plagiocephaly surgery. MATERIALS AND METHODS: Seven plagiocephaly patients (ages 6 months-24 months, average 16.7 months) were enrolled. Preoperative design was accomplished based on three-dimensional computed tomography (CT) data for patients with synostotic plagiocephaly. We completed the registration with the predefined markers through an image registration process preoperatively. Then, we overlaid the registration results into the surgical field to assist surgeons intraoperatively. CT scans were performed postoperatively. Intracranial volume was measured to judge the surgical outcomes. We performed a quantitative craniometric analysis between the planning of the reconstruction and post-operative results, and the main evaluation indicator was the intracranial volume asymmetry. RESULTS: We successfully applied the AR system in patients undergoing synostotic plagiocephaly, providing real-time navigational images of position and orientation information during open calvarial reconstruction surgery in 7 plagiocephaly patients within a span of 5 years. Good appearances were observed after the surgery. Cranial volume asymmetry was decreased from 27.87% to 16.57%, achieving precise intra-operative goals. No significant differences were found between planning and post-operative results. CONCLUSIONS: The AR system can be applied to plagiocephaly procedures guiding to obtain reliable and accurate results via a precise osteotomy.

A New Technique for Sagittal Synostosis: A Plurality of Small Incisions Minimally Invasive Technique Used on Infants and Young Patients.

OBJECTIV: The authors devised a multiple small incisions minimally invasive technique for use in isolated nonsyndromic sagittal synostosis to achieve better esthetic effect and satisfactory reshaping of the calvarial vault. The purpose of this study is to provide clinicians with new and feasible solution. METHODS: From April 2016 to January 2017, 5 male patients were successfully treated with minimally invasive surgery. The age ranges from 1.5 to 3.3 years. The authors designed 9 short skin linear incisions (2-3 cm long) strategically to disperse in the scalp. The patient was assessed in a series including sex, age of surgery, blood loss, blood transfusion, duration of surgery, postoperative complications, preoperative and postoperative cephalic index (CI), length of stay (LOS), esthetic outcomes, and intellectual developmental quotient (DQ). RESULTS: The shortest operation time is 1.5 hours. The shortest hospital stay is 6 days. The blood loss ranged from 135 to 280 mL. No serious complications occurred during the follow-up time. Postoperative 3-dimensional CT scan showed that the extensive floating bone formed well. Preoperative CI ranged from 64.2 to 68 and postoperatively 69.4 to 74.3. Mental development was tested by children heath care practioners, significantly improving DQ from 67 to 81 preoperatively and 76 to 90 postoperatively. All children receive good esthetic results. CONCLUSION: The new technique is safe and effective. The advantages are satisfactory: calvarial fornix remodeling, less visible appearance of scars, shorter length of surgery, lower mental and financial stress, optimal age for surgery, no endoscopic adjuvant and postoperative helmet are needed.