Neurosurgery
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Hereditary cancer predisposition syndromes (HCS) become more recognizable as the knowledge about them expands, and genetic testing becomes more affordable. In this review, we discussed the known HCS that predispose to central and peripheral nervous system tumors. Different genetic phenomena were highlighted, and the important cellular biological alterations were summarized. ⋯ Interestingly, precision medicine has found its way to help these groups of patients by offering targeted preventive measures. Understanding the signaling pathway alteration of mammalian target of rapamycin (mTOR) in tuberous sclerosis helped introducing mTOR inhibitors as a prophylactic treatment in these patients. More research to define the germline genetic alterations and resulting cellular signaling perturbations is needed for effective risk-reducing interventions beyond prophylactic surgeries.
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Prospective studies have established the safety and efficacy of the PipelineTM Embolization Device (PED; Medtronic) for treatment of intracranial aneurysms (IA). ⋯ This study demonstrated high rates of long-term complete aneurysm occlusion, stable or improved functional outcomes, and low rates of complications and mortality. Clinical and angiographic outcomes improved over long-term follow-up, demonstrating that endovascular treatment of IA with PED is safe and effective.
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Laser interstitial thermal therapy (LITT) is a promising approach for cytoreduction of deep-seated gliomas. However, parameters contributing to treatment success remain unclear. ⋯ Increased EOA was a predictor of improved PFS with evidence of a trend toward improved OS in LITT treatment of nGBM. A strategy favoring higher laser power during tumor ablation may achieve optimal EOA. Early transition to chemotherapy after LITT improves PFS.
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Although many clinical risk factors of spastic cerebral palsy (CP) have been identified, the genetic basis of spastic CP is largely unknown. Here, using whole-genome genetic information linked to a deidentified electronic health record (BioVU) with replication in the UK Biobank and FinnGen, we perform the first genome-wide association study (GWAS) for spastic CP. ⋯ To our knowledge, we perform the first GWAS of spastic CP. Our study indicates that genetic variation contributes to CP risk.
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Normal pressure hydrocephalus (NPH) is frequently treated with ventriculoperitoneal shunt (VPS) surgery. However, VPS implantation can lead to overdrainage and complications such as headaches, hygroma, and subdural hematoma due to a siphon effect in an upright position. Gravitational valves prevent overdrainage through position-dependent adjustment of valve resistance. Flow-regulated valves that increase resistance in presence of high cerebrospinal fluid flow may provide similar protection against overdrainage and present an alternative to gravitational valves. ⋯ Our data suggest that shunt therapy in NPH patients with a flow-regulated instead of a gravitational valve is safe and effective with a comparable clinical outcome and risk of overdrainage complications. Moreover, patients with flow-regulated valves may need fewer valve adjustments and reoperations.