Cell replacement therapy is a promising treatment strategy for Parkinson's disease (PD); however, the poor survival rate of transplanted neurons is a critical barrier to functional recovery. In this study, we used selfassembling peptide nanofiber scaffolds (SAPNS) based on the peptide RADA16-I to support the in vitro maturation and in vivo post-transplantation survival of encapsulated human dopaminergic (DA) neurons derived from induced pluripotent stem cells. Neurons encapsulated within the SAPNS expressed mature neuronal and midbrain DA markers and demonstrated in vitro functional activity similar to neurons cultured in two dimensions. A microfluidic droplet generation method was used to encapsulate cells within monodisperse SAPNS microspheres, which were subsequently used to transplant adherent, functional networks of DA neurons into the striatum of a 6-hydroxydopamine-lesioned PD mouse model. SAPNS microspheres significantly increased the in vivo survival of encapsulated neurons compared with neurons transplanted in suspension, and they enabled significant recovery in motor function compared with control lesioned mice using approximately an order of magnitude fewer neurons than have been previously needed to demonstrate behavioral recovery. These results indicate that such biomaterial scaffolds can be used as neuronal transplantation vehicles to successfully improve the outcome of cell replacement therapies for PD.
Beckwith-Wiedemann syndrome (BWS) is an epigenetic disorder of imprinting on the chromosome 11p15 region that presents with clinical features, such as macroglossia, abdominal wall defects, neonatal hypoglycemia, hemihypertrophy, and embryonal tumors. Phyllodes tumors (PTs) are rare fibroepithelial tumors that account for 0.3% to 1% of breast tumors and present in women aged 35 to 55 years. Here we describe a rare case of metastatic malignant phyllodes tumor in a 27-year-old woman with BWS and uniparental disomy (UPD) of chromosome 11p15.5. To our knowledge, this is the first case report in literature to describe metastatic malignant phyllodes tumor in a woman with BWS.
Introduction: Obesity, DM, HTN and metabolic syndrome (MtS) are associated with nonalcoholic fatty liver disease (NAFLD). NAFLD is characterized into, nonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH), which are increasingly prevalent chronic liver diseases in the US. Data shows that there is a high incidence of MtS in African American (AA) individuals, however the AA population is known to have a lower incidence of NAFLD as compared to Caucasian and Hispanic Americans. Given the high number of AA patients in our clinic and paucity of data on the reason for the low incidence of NAFLD in the AA population, we assessed risk factors and non-invasive serum markers for fibrosis between AA and nonAA patients at their earliest clinic visits to ascertain potential underlying causes. Methods: Using the ICD-10 codes for NAFLD (K76.0) and NASH (K75.81), we identified patients between 2017 and 2020 with sufficient data to confirm accurate diagnosis. We defined NAFL patients as those with significant steatosis (by ultrasound) and minimal fibrosis and NASH patients as those with significant steatosis and advanced fibrosis (F2-F4). Statistical analysis was performed using JMP-SAS software. Results: We identified 216 patients with NAFLD (NAFL5133, NASH583). Despite the predominance ( .80%) of AA patients in our clinic, AA patients constituted only 54% of the NAFLD patients (AA5116, Asian518, Caucasian548, Hispanic517, Middle Eastern516). Of the total AA patients with NAFLD, 34% had NASH which was not statistically significant in proportion when compared to the nonAA NASH patients. When differences between AA and nonAA NAFL patients were evaluated, age at diagnosis (AA older), APRI and FIB-4 (AA lower) were significantly different. APRI and FIB-4 scores were lower in AA NASH than nonAA NASH patients but the difference was not significant. Common risk factors for NAFLD (HTN, DM, obesity, and MtS) were not significant when compared in proportion of population between AA and nonAA patients (Table ). Conclusion: Our percentage of NAFLD AA patients did not reflect the percentage of the broader clinic population suggesting a potential protective effect of ethnicity with relation to NAFLD. Most of the risk factors were more pronounced in NASH as compared to NAFL, but there were no major racial differences in risk factors that could account for the known lower incidence of NAFLD in AA versus nonAA patients. Further study over a longer time period is necessary to elucidate the underlying causality.
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