The proposed method yielded good discrimination between LGG with and without 1p/19q codeletion. Results from this study demonstrate the great potential of this method to aid decision-making in the clinical management of patients with LGG.
Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Deep sequencing technologies have facilitated detection of low-level mosaic, often necessitating testing of tissues other than blood. Since clinical management practices vary considerably among healthcare professionals and services across different countries, a consensus on management guidelines is needed. Clinical heterogeneity within this spectrum leads to challenges in establishing management recommendations, which must be based on patientspecific considerations. Moreover, as most of these conditions are rare, affected families may lack access to the medical expertise that is needed to help address the multi-system and often complex medical issues seen with PROS. In March 2019, macrocephaly-capillary malformation (M-CM) patient organizations hosted an expert meeting in Manchester, United Kingdom, to help address these challenges with regards to M-CM syndrome. We have expanded the scope of this project to cover PROS and developed this consensus statement on the preferred approach for managing affected individuals based on our current knowledge.
BACKGROUND Deep brain stimulation (DBS) has been used for chronic pain for decades, but its use is limited due to a lack of reliable data about its efficacy for specific indications. OBJECTIVE To report on 9 patients who underwent DBS for facial pain, with a focus on differences in outcomes between distinct etiologies. METHODS We retrospectively reviewed 9 patients with facial pain who were treated with DBS of the ventral posteromedial nucleus of the thalamus and periventricular gray. We report on characteristics including facial pain etiology, complications, changes in pain scores using the visual analog scale (VAS), and willingness to undergo DBS again. RESULTS Nine patients underwent DBS for either poststroke, post-traumatic, postherpetic, or atypical facial pain. Eight patients (89%) were permanently implanted. Seven patients had sufficient follow-up (mean 40.3 mo). Of these 7 patients, average VAS scores decreased from 9.4 to 6.1 after DBS. The average decrease in VAS was 55% for post-traumatic facial pain (2 patients), 45% for poststroke (2 patients), 15% for postherpetic neuralgia (2 patients), and 0% for atypical facial pain (1 patient). Three of the 8 implanted patients (38%) had complications which required removal of hardware. Only 2 of 7 (29%) patients met classical criteria for responders (50% decrease in pain scores). However, among 4 patients who were asked about willingness to undergo DBS again, all expressed that they would repeat the procedure. CONCLUSION There is a trend towards improvement in pain scores following DBS for facial pain, most prominently with post-traumatic pain.
Highlights Clinically weighted tractography reveals key patterns of therapeutic brain stimulation. Thalamic stimulation for tremor preferentially connects to precentral gyrus and cerebellum. Thalamic DBS of areas most connected to motor cortex results in superior outcomes. Acute and chronic therapeutic outcomes demonstrate converging connectivity patterns.
BACKGROUND When evaluating deep brain stimulation (DBS) for newer indications, patients may benefit from trial stimulation prior to permanent implantation or for investigatory purposes. Although several case series have evaluated infectious complications among DBS patients who underwent trials with external hardware, outcomes have been inconsistent. OBJECTIVE To determine whether a period of lead externalization is associated with an increased risk of infection. METHODS We conducted a Preferred Reporting Items for Systematic Reviews and Meta-Analyses compliant systematic review of all studies that included rates of infection for patients who were externalized prior to DBS implantation. A meta-analysis of proportions was performed to estimate the pooled proportion of infection across studies, and a meta-analysis of relative risks was conducted on those studies that included a control group of nonexternalized patients. Heterogeneity across studies was assessed via I2 index. RESULTS Our search retrieved 23 articles, comprising 1354 patients who underwent lead externalization. The pooled proportion of infection was 6.9% (95% CI: 4.7%-9.5%), with a moderate to high level of heterogeneity between studies (I2 = 62.2%; 95% CI: 40.7-75.9; P < .0001). A total of 3 studies, comprising 212 externalized patients, included a control group. Rate of infection in externalized patients was 5.2% as compared to 6.0% in nonexternalized patients. However, meta-analysis was inadequately powered to determine whether there was indeed no difference in infection rate between the groups. CONCLUSION The rate of infection in patients with electrode externalization is comparable to that reported in the literature for DBS implantation without a trial period. Future studies are needed before this information can be confidently used in the clinical setting.
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