RESUMO
Pediatric neurodegeneration is extremely rare and devastating to the families involved. We describe a rare case of pediatric neurodegeneration in a child with N-glycanase 1 (NGLY1) deficiency. This child had an autosomal recessive mutation in NGLY1, the gene coding for the enzyme NGLY1 that was found with exome sequencing. NGLY1 catalyzes protein deglycosylation by cleaving the -aspartyl glycosylamine bond of N-linked glycoproteins and is thereby a component of the endoplasmic reticulum-associated degradation pathway. This child passed away at five years of age after a prolonged clinical course with myoclonic epilepsy, choreoathetosis-like movements, lacrimal duct problems, and severe developmental delay. This autopsy case report shows images of the neuronal inclusions and liver steatosis found in this patient with NGLY1 deficiency and offers a detailed clinical history.
RESUMO
Background This study investigated patients' attitudes about severe acute respiratory syndrome coronavirus 2 in rural Michigan. Despite increasing cases in rural communities across America, surveys have revealed that residents may feel less threatened by the virus compared to their urban counterparts. This difference in attitude and information appraisal can negatively affect rural health by discouraging coronavirus disease (COVID-19) preventative behaviors. Understanding social influences that contribute to the formation of opinions about the pandemic can help public health officials and clinicians better address rural health. Methodology This cross-sectional study surveyed 299 participants from three primary care clinics in Shiawassee County of Michigan during a seven-week interval. Statistical analysis, primarily through SAS version 9.4 (SAS Institute Inc., Cary, NC, USA), included descriptive statistics, multiple linear regression models, paired t-tests, and correlation coefficients. A p-value less than or equal to 0.05 was considered significant. Results Patients believed the risk COVID-19 posed to their family was significantly higher than the risk it posed to themselves (p < 0.001). Patients who reported that they would follow their provider's advice for treatment of a non-COVID-19 medical illness were found to be more likely to follow a provider's advice on COVID-19 (p < 0.001). However, patients overall were more agreeable with following provider advice for non-COVID-19 medical illnesses than they were for COVID-19 (p < 0.001). Conclusions As patients were more agreeable with following medical advice on chronic conditions than COVID-19, there may be extrinsic factors influencing patient views of COVID-19. Polarization of COVID-19 in the media has heavily influenced attitudes toward the virus in America. Initiatives to provide reliable patient education is key to encouraging constructive discussions and a healthy rural community. In a strong patient-provider relationship, primary care providers can share and encourage appropriate healthy behaviors regarding COVID-19, which have a direct impact on community health.