RESUMO
Mutations in FBXL4 have recently been recognized to cause a mitochondrial disorder, with clinical features including early onset lactic acidosis, hypotonia, and developmental delay. FBXL4 sequence analysis was performed in 808 subjects suspected to have a mitochondrial disorder. In addition, 28 samples from patients with early onset of lactic acidosis, but without identifiable mutations in 192 genes known to cause mitochondrial diseases, were examined for FBXL4 mutations. Definitive diagnosis was made in 10 new subjects with a total of 7 novel deleterious variants; 5 null and 2 missense substitutions. All patients exhibited congenital lactic acidemia, most of them with severe encephalopathic presentation, and global developmental delay. Overall, FBXL4 defects account for at least 0.7% (6 out of 808) of subjects suspected to have a mitochondrial disorder, and as high as 14.3% (4 out of 28) in young children with congenital lactic acidosis and clinical features of mitochondrial disease. Including FBLX4 in the mitochondrial diseases panel should be particularly important for patients with congenital lactic acidosis.
Assuntos
Acidose Láctica/genética , Proteínas F-Box/genética , Erros Inatos do Metabolismo/genética , Doenças Mitocondriais/genética , Ubiquitina-Proteína Ligases/genética , Acidose Láctica/diagnóstico , Acidose Láctica/fisiopatologia , Criança , DNA Mitocondrial/genética , Feminino , Humanos , Lactente , Masculino , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/fisiopatologia , Doenças Mitocondriais/classificação , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/fisiopatologia , MutaçãoRESUMO
Introduction: Disparities exist in access to coronavirus disease 2019 (COVID-19)-related health information. We aimed to close a gap in online traffic between English and Spanish COVID-19-related health information on our institution's publicly-facing website by 50% within ten months. Methods: We used A3 improvement methodology. Outcome measures were the mean monthly difference between English and Spanish COVID-19 online traffic vis-a-vis (1) total webpage views and (2) unique webpage visits. Process measures were stratification of outcome measures by language. Plan-Do-Study-Act cycles included: Recurring advertisements on a local Spanish television station disseminating up-to-date COVID-19 information, including our institution's Spanish COVID-19 online resources, incorporation of QR codes into clinic discharge paperwork linking to institutional Spanish COVID-19 resources, and leveraging social media to expand reach. Control charts assessed impact over time. Results: There were 1,226,196 total webpage views (369,983 Spanish; 856,213 English) and 1,065,536 unique webpage visits (350,518 Spanish; 715,018 English). Both outcome measures displayed sustained, special cause improvement from a mean monthly difference of 25,397 to 11,321 webpage views (55.4% reduction, June 2021) and 25,066 to 7080 unique webpage visits (71.8% reduction, February 2021) corresponding to special cause improvements in process measures. Improvements were not temporally associated with an intervention but coincided with emergency use approval of the COVID-19 vaccine for children aged 12-15 years (May 2021). Conclusions: Although our interventions did not directly show improvements in our measures, we noted increased page views of Spanish COVID-19-related health information on our institution's publicly-facing website in times of high demand for linguistically appropriate services, including pediatric vaccine roll-out.
RESUMO
INTRODUCTION: Depression is a common comorbidity of epilepsy that is under-recognized and under-diagnosed. To improve recognition, a brief screening tool, the Neurological Disorders Depression Inventory-Epilepsy-Youth (NDDI-E-Y) was implemented in a level-IV pediatric epilepsy clinic. METHOD: This quality improvement is a pre-post design measuring the impact of standardized depression screening, via the NDDI-E-Y tool, in youth 12-17 years with epilepsy. Those with positive screens, scores > 32, received social work evaluation and mental health resources. Education was provided to all patients in standard discharge paperwork. RESULTS: Of N = 176 patients evaluated, n = 112 met criteria to complete the NDDI-E-Y. Fifteen percent (n = 17) of patients had positive screens, suggesting that they are at risk for depression. DISCUSSION: Depression is a challenge when managing patients with epilepsy and may impact their quality of life and seizure control. Routine depression screening is recommended and feasible in the outpatient setting with a standardized work process.
Assuntos
Depressão/diagnóstico , Epilepsia/psicologia , Programas de Rastreamento/normas , Adolescente , Criança , Feminino , Humanos , Masculino , Educação de Pacientes como Assunto , Desenvolvimento de Programas , Avaliação de Programas e Projetos de Saúde , Melhoria de QualidadeRESUMO
Today's fiber-optic communications systems are fused-silica-based fibers for which signals require reamplification every 30 kilometers. Repeaterless long-haul (transcontinental and transoceanic) links can only be envisaged if a new fiber material with intrinsic power losses significantly lower than those of silica can be identified and developed. This article reviews the development of silica-based systems, details the physical mechanisms which produce signal attenuation in fiber materials in general, and identifies that class of materials from which ultralow loss glasses are most likely to be developed in the future.
RESUMO
The CT and magnetic resonance findings of neuropathic spinal arthropathy in a patient with long-standing complete post-traumatic paraplegia are reported. The arthropathy involved primarily the disk space between the 11th and 12th thoracic vertebrae. The CT changes included vertebral body sclerosis with foci of bone destruction, replacement of the disk space by a soft tissue mass containing bone fragments extending beyond the confines of the vertebral body margins, degenerative changes of the posterior joints, a partially calcified progressively enlarging paraspinal soft tissue mass, and calcification within the spinal canal.
Assuntos
Artropatia Neurogênica/diagnóstico , Espectroscopia de Ressonância Magnética , Doenças da Coluna Vertebral/diagnóstico , Tomografia Computadorizada por Raios X , Artropatia Neurogênica/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Doenças da Coluna Vertebral/diagnóstico por imagemRESUMO
High-speed optical communication requires ultrafast all-optical processing and switching capabilities. The Kerr nonlinearity, an ultrafast optical nonlinearity, is often used as the basic switching mechanism. A practical, small device that can be switched with ~1-pJ energies requires a large Kerr effect with minimal losses (both linear and nonlinear). We have investigated theoretically and experimentally a number of Se-based chalcogenide glasses. We have found a number of compounds with a Kerr nonlinearity hundreds of times larger than silica, making them excellent candidates for ultrafast all-optical devices.