Central nervous system manifestations of tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal-dominant genetic syndrome marked by development of hamartomatous lesions arising from dysfunction of the mammalian target of rapamycin (mTOR) pathway. Although TSC remains a heterogeneous clinical entity, the recent inclusion of genetic diagnostic criteria reflects advancement in our understanding of its underlying etiopathogenesis. Abnormal cellular growth, differentiation, and migration result in multisystem sequelae, with neurologic manifestations of TSC representing the primary cause of morbidity and mortality for the majority of individuals. Modern imaging techniques aid in the diagnosis of TSC and guide treatment strategies by revealing central nervous system findings. Cortical tubers are the namesake lesion of the disorder and occur in up to 90% of cases, often exerting significant epileptogenic potential. Subependymal nodules are found in 80% of patients as calcified tumors lining the ependyma of the lateral ventricles. In some cases, these nodules are thought to progress to subependymal giant cell astrocytomas and may present with obstructive hydrocephalus. Retinal astrocytic hamartomas are also common, present in 50% of patients. Surgery remains the treatment of choice for large or symptomatic lesions, though clinical trials have highlighted a potential role for mTOR pathway antagonism. A multidisciplinary approach is necessary for achieving optimal patient outcomes.

Postoperative Cerebrospinal Fluid Leak Rates with Subfascial Epidural Drain Placement after Intentional Durotomy in Spine Surgery.

Study Design Retrospective chart review. Objective Postoperative cerebrospinal fluid (CSF) leak is a known complication of intraoperative durotomy. Intraoperative placement of subfascial epidural drains following primary dural repair has been proposed as a potential management strategy to prevent formation of CSF cutaneous fistula and symptomatic pseudomeningocele. Here we describe our experience with subfascial drain after intentional durotomy. Methods Medical records of patients who underwent placement of subfascial epidural drains during spinal procedures with intentional intraoperative durotomies over a 4-year period at two institutions were retrospectively reviewed. Primary outcomes of interest were postoperative CSF cutaneous fistula or symptomatic pseudomeningocele formation. Results Twenty-five patients were included. Mean length of follow-up was 9.5 months. Twelve patients (48%) underwent simultaneous arthrodesis. The average duration of the drain was 5.3 days with average daily output of 126.5 mL. Subgroup analyses revealed that average drain duration for the arthrodesis group was 6.33 days, which is significantly greater than that of the nonfused group, which was 3.7 days (p = 0.016). Similarly, the average daily drain output for the arthrodesis subgroup at 153.1 mL was significantly higher than that of the nonfused subgroup (86.8 mL, p = 0.04). No patient developed postoperative CSF cutaneous fistula or symptomatic pseudomeningocele or had negative sequelae associated with overdrainage of CSF. One patient had a delayed wound infection. Conclusions The intraoperative placement of subfascial epidural drains was not associated with postoperative development of CSF cutaneous fistula, symptomatic pseudomeningocele, overdrainage, or subdural hematoma in the cases reviewed. Subfascial closed wound drain placement is a safe and efficacious management method after intentional spinal durotomies. It is particularly helpful in those who undergo simultaneous arthrodesis, as those patients have statistically higher daily drain output and longer drain durations.

A Prediction Model for Functional Outcomes in Spinal Cord Disorder Patients Using Gaussian Process Regression.

Predicting the functional outcomes of spinal cord disorder patients after medical treatments, such as a surgical operation, has always been of great interest. Accurate posttreatment prediction is especially beneficial for clinicians, patients, care givers, and therapists. This paper introduces a prediction method for postoperative functional outcomes by a novel use of Gaussian process regression. The proposed method specifically considers the restricted value range of the target variables by modeling the Gaussian process based on a truncated Normal distribution, which significantly improves the prediction results. The prediction has been made in assistance with target tracking examinations using a highly portable and inexpensive handgrip device, which greatly contributes to the prediction performance. The proposed method has been validated through a dataset collected from a clinical cohort pilot involving 15 patients with cervical spinal cord disorder. The results show that the proposed method can accurately predict postoperative functional outcomes, Oswestry disability index and target tracking scores, based on the patient's preoperative information with a mean absolute error of 0.079 and 0.014 (out of 1.0), respectively.

Quantitative assessment of hand motor function in cervical spinal disorder patients using target tracking tests.

Cervical spondylotic myelopathy (CSM) is a chronic spinal disorder in the neck region. Its prevalence is growing rapidly in developed nations, creating a need for an objective assessment tool. This article introduces a system for quantifying hand motor function using a handgrip device and target tracking test. In those with CSM, hand motor impairment often interferes with essential daily activities. The analytic method applied machine learning techniques to investigate the efficacy of the system in (1) detecting the presence of impairments in hand motor function, (2) estimating the perceived motor deficits of CSM patients using the Oswestry Disability Index (ODI), and (3) detecting changes in physical condition after surgery, all of which were performed while ensuring test-retest reliability. The results based on a pilot data set collected from 30 patients with CSM and 30 nondisabled control subjects produced a c-statistic of 0.89 for the detection of impairments, Pearson r of 0.76 with p < 0.001 for the estimation of ODI, and a c-statistic of 0.82 for responsiveness. These results validate the use of the presented system as a means to provide objective and accurate assessment of the level of impairment and surgical outcomes.

Use of multivariate linear regression and support vector regression to predict functional outcome after surgery for cervical spondylotic myelopathy.

This study introduces the use of multivariate linear regression (MLR) and support vector regression (SVR) models to predict postoperative outcomes in a cohort of patients who underwent surgery for cervical spondylotic myelopathy (CSM). Currently, predicting outcomes after surgery for CSM remains a challenge. We recruited patients who had a diagnosis of CSM and required decompressive surgery with or without fusion. Fine motor function was tested preoperatively and postoperatively with a handgrip-based tracking device that has been previously validated, yielding mean absolute accuracy (MAA) results for two tracking tasks (sinusoidal and step). All patients completed Oswestry disability index (ODI) and modified Japanese Orthopaedic Association questionnaires preoperatively and postoperatively. Preoperative data was utilized in MLR and SVR models to predict postoperative ODI. Predictions were compared to the actual ODI scores with the coefficient of determination (R(2)) and mean absolute difference (MAD). From this, 20 patients met the inclusion criteria and completed follow-up at least 3 months after surgery. With the MLR model, a combination of the preoperative ODI score, preoperative MAA (step function), and symptom duration yielded the best prediction of postoperative ODI (R(2)=0.452; MAD=0.0887; p=1.17 × 10(-3)). With the SVR model, a combination of preoperative ODI score, preoperative MAA (sinusoidal function), and symptom duration yielded the best prediction of postoperative ODI (R(2)=0.932; MAD=0.0283; p=5.73 × 10(-12)). The SVR model was more accurate than the MLR model. The SVR can be used preoperatively in risk/benefit analysis and the decision to operate.

Utilization of a novel digital measurement tool for quantitative assessment of upper extremity motor dexterity: a controlled pilot study.

BACKGROUND: The current methods of assessing motor function rely primarily on the clinician's judgment of the patient's physical examination and the patient's self-administered surveys. Recently, computerized handgrip tools have been designed as an objective method to quantify upper-extremity motor function. This pilot study explores the use of the MediSens handgrip as a potential clinical tool for objectively assessing the motor function of the hand. METHODS: Eleven patients with cervical spondylotic myelopathy (CSM) were followed for three months. Eighteen age-matched healthy participants were followed for two months. The neuromotor function and the patient-perceived motor function of these patients were assessed with the MediSens device and the Oswestry Disability Index respectively. The MediSens device utilized a target tracking test to investigate the neuromotor capacity of the participants. The mean absolute error (MAE) between the target curve and the curve tracing achieved by the participants was used as the assessment metric. The patients' adjusted MediSens MAE scores were then compared to the controls. The CSM patients were further classified as either "functional" or "nonfunctional" in order to validate the system's responsiveness. Finally, the correlation between the MediSens MAE score and the ODI score was investigated. RESULTS: The control participants had lower MediSens MAE scores of 8.09%±1.60%, while the cervical spinal disorder patients had greater MediSens MAE scores of 11.24%±6.29%. Following surgery, the functional CSM patients had an average MediSens MAE score of 7.13%±1.60%, while the nonfunctional CSM patients had an average score of 12.41%±6.32%. The MediSens MAE and the ODI scores showed a statistically significant correlation (r=-0.341, p<1.14×10⁻5). A Bland-Altman plot was then used to validate the agreement between the two scores. Furthermore, the percentage improvement of the the two scores after receiving the surgical intervention showed a significant correlation (r=-0.723, p<0.04). CONCLUSIONS: The MediSens handgrip device is capable of identifying patients with impaired motor function of the hand. The MediSens handgrip scores correlate with the ODI scores and may serve as an objective alternative for assessing motor function of the hand.