Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature.

A 31-year-old woman with transthyretin (TTR) amyloidosis secondary to a Thr60Ala mutation developed recurrent stroke-like episodes with fluctuating mental status. Evaluation for stroke and seizures was unrevealing. She was found to have leptomeningeal contrast enhancement on magnetic resonance imaging, which was confirmed to be CNS TTR amyloidosis on histopathology following brain and dura biopsy. While leptomeningeal disease has rarely been known to be associated with TTR amyloidosis, this is the first documented case of leptomeningeal disease secondary to a Thr60Ala mutation in the TTR gene. A literature review of TTR amyloidosis is presented with special focus on the treatment of leptomeningeal TTR amyloidosis.

Impact of a relationship-centered care communication curriculum on pediatric residents' practice, perspectives, and opportunities to Develop expertise.

OBJECTIVES: To investigate the impacts of a Relationship-Centered Care (RCC) communication curriculum with coaching on pediatric residents 1) self-reported use of RCC strategies and perspectives, and 2) opportunities to develop adaptive expertise. METHODS: Residents (n = 77) completed a 4 h RCC training and shared resultant RCC goals with Coaches (n = 15). Data included resident surveys and reflections immediately post-training, and resident and coach surveys 6-months later. Reported use of RCC strategies were compared over time with paired t-tests. Qualitative data were analyzed using open coding guided by sensitizing principles from the RCC framework and adaptive expertise. RESULTS: Pediatric residents reported significant increases (p < 0.001) in use of 4/9 RCC strategies after 6 months: eliciting all concerns, chunking information, checking for understanding, and teach-back. Resident reflections highlighted shifts in perspective around RCC. Training combined with coaching provided opportunities for residents to develop adaptive expertise through adapting and innovating across settings and contexts. CONCLUSION: Residents had significant increases in reported use of key RCC strategies after a training combined with coaching and demonstrated opportunities to develop adaptive expertise. PRACTICE IMPLICATIONS: Residency programs should include RCC training with an emphasis on the new and challenging strategies and provide opportunities to practice and receive coaching.

Intrathoracic meningocele associated with neurofibromatosis Type 1 and a novel technique for surgical repair: case report.

Neurofibromatosis Type 1 (NF1) is a neurocutaneous disorder that can have associated spinal abnormalities related to both bone and dural dysplasia. Thoracic meningoceles are one spine anomaly associated with NF1, although they are a fairly uncommon pathology. Surgical techniques to treat these meningoceles, usually undertaken only when the patient is symptomatic, are targeted at decreasing the size of the protrusion and improving lung capacity. Surgical interventions discussed in the literature include shunting the pseudomeningocele, primary repair with laminectomy, thoracoscopic plication, and reinforcement of the closure with cement, muscle, or fascia. Authors here report the case of a 43-year-old woman with NF1 with worsening pulmonary function tests and in whom shunting of the pseudomeningocele failed. Subsequently, a posterolateral thoracotomy was performed. The dura mater was reconstructed and primarily closed. On this closure a Gore-Tex soft-tissue patch was placed along with polypropylene mesh and Evicel fibrin sealant, followed by titanium mesh. At the end of the procedure, a chest tube was left in place and therapeutic pneumoperitoneum was performed to decrease the dead space as the lung did not fully expand with positive-pressure ventilation. The patient's pulmonary function tests improved after the procedure. Thoracic meningoceles are uncommon and difficult pathologies to treat surgically. Although shunting is arguably the least invasive surgical option, it can fail in some patients. When it does fail, there are other options that require a multidisciplinary approach and careful attention to the dural closure and reinforcing layers.

Directed Differentiation of Oligodendrocyte Progenitor Cells From Mouse Induced Pluripotent Stem Cells.

Several neurological disorders, such as multiple sclerosis, the leukodystrophies, and traumatic injury, result in loss of myelin in the central nervous system (CNS). These disorders may benefit from cell-based therapies that prevent further demyelination or are able to restore lost myelin. One potential therapeutic strategy for these disorders is the manufacture of oligodendrocyte progenitor cells (OPCs) by the directed differentiation of pluripotent stem cells, including induced pluripotent stem cells (iPSCs). It has been proposed that OPCs could be transplanted into demyelinated or dysmyelinated regions of the CNS, where they would migrate to the area of injury before terminally differentiating into myelinating oligodendrocytes. OPCs derived from mouse iPSCs are particularly useful for modeling this therapeutic approach and for studying the biology of oligodendrocyte progenitors because of the availability of mouse models of neurological disorders associated with myelin deficiency. Moreover, the utility of miPSC-derived OPCs would be significantly enhanced by the adoption of a consistent, reproducible differentiation protocol that allows OPCs derived from different cell lines to be robustly characterized and compared. Here we describe a standardized, defined protocol that reliably directs the differentiation of miPSCs to generate high yields of OPCs that are capable of maturing into oligodendrocytes.