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1.
Am J Med Genet A ; 185(12): 3717-3727, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34331386

RESUMO

Sensorineural hearing loss (SNHL) is characteristic of Usher syndrome type 2 (USH2), but less is known about SNHL in nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) and olfaction in USH2A-associated retinal degeneration. The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) is a natural history study that enrolled 127 participants, 80 with USH2 and 47 with ARRP. Hearing was measured by pure-tone thresholds and word recognition scores, and olfaction by the University of Pennsylvania Smell Identification Test (UPSIT). SNHL was moderate in 72% of USH2 participants and severe or profound in 25%, while 9% of ARRP participants had moderate adult-onset SNHL. Pure-tone thresholds worsened with age in ARRP but not in USH2 participants. The degree of SNHL was not associated with other participant characteristics in either USH2 or ARRP. Median pure-tone thresholds in ARRP participants were significantly higher than the normative population (p < 0.001). Among 14 USH2 participants reporting newborn hearing screening results, 7 reported passing. Among RUSH2A participants, 7% had mild microsmia and 5% had moderate or severe microsmia. Their mean (±SD) UPSIT score was 35 (±3), similar to healthy controls (34 [±3]; p = 0.39). Olfaction differed by country (p = 0.02), but was not significantly associated with clinical diagnosis, age, gender, race/ethnicity, smoking status, visual measures, or hearing. Hearing loss in USH2A-related USH2 did not progress with age. ARRP patients had higher pure-tone thresholds than normal. Newborn hearing screening did not identify all USH2A-related hearing loss. Olfaction was not significantly worse than normal in participants with USH2A-related retinal degeneration.


Assuntos
Proteínas da Matriz Extracelular/genética , Predisposição Genética para Doença , Perda Auditiva Neurossensorial/genética , Retinose Pigmentar/genética , Síndromes de Usher/genética , Adolescente , Adulto , Idade de Início , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Degeneração Retiniana/diagnóstico , Degeneração Retiniana/genética , Degeneração Retiniana/patologia , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/patologia , Olfato/genética , Síndromes de Usher/diagnóstico , Síndromes de Usher/patologia , Adulto Jovem
2.
Bioresour Technol ; 206: 255-263, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26866761

RESUMO

This study evaluated long-term non-sterile cultivation of freshwater green alga Neochloris oleoabundans in a 15-liter bubble column photobioreactor (BCPBR) and the effects of a membrane-based localized oxygen remover (LOR) on deoxygenation, cell growth, and lipid production of N. oleoabundans. Batch and continuous cultivations were carried out under non-sterile conditions for 53 days with no detectable protozoa or other biological contaminants, indicating successful long-term contamination-free cultivation. The results show that the BCPBR equipped with LOR (BCPBR-LOR) has enhanced deoxygenation efficiency and were able to maintain dissolved oxygen at a level of around 120% air saturation, which was 32% lower than that of the conventional BCPBR, which had no LOR. While similar biomass concentration and productivity were obtained in both systems, significantly higher lipid cell content and lipid productivity of microalgae were obtained in the latter, which was attributed to the low dO2 in culture due to enhanced deoxygenation efficiency of BCPBR-LOR.


Assuntos
Clorófitas/crescimento & desenvolvimento , Oxigênio/isolamento & purificação , Fotobiorreatores/microbiologia , Biomassa , Clorófitas/metabolismo , Concentração de Íons de Hidrogênio , Lipídeos/análise , Microalgas/crescimento & desenvolvimento , Microalgas/metabolismo , Pigmentos Biológicos/metabolismo , Solubilidade , Temperatura , Fatores de Tempo
3.
Diabetes Care ; 38(12): 2341-3, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26459274

RESUMO

OBJECTIVE: To evaluate the frequency of depressive symptoms and the diagnosis and management of depression in youth with type 1 diabetes (T1D) and type 2 diabetes (T2D) enrolled in the Pediatric Diabetes Consortium T1D and T2D registries. RESEARCH DESIGN AND METHODS: The Children's Depression Inventory (CDI) 2 Self-Report (Short) version was completed by 261 T1D and 339 T2D youth aged 10-17 years. RESULTS: Symptoms of depression were identified in 13% of T1D and 22% of T2D (P = 0.007) participants; of these, only 4% of T1D and 9% of T2D youth were treated by a therapist within the prior 12 months. Depressive symptoms were associated with lower family income (P = 0.006) and obesity (P = 0.002) in T1D but not T2D youth. CONCLUSIONS: Depressive symptoms are more frequent than diagnosed depression in youth with T1D or T2D. These results underscore the need for regular depression screening and appropriate referral for youth with diabetes.


Assuntos
Depressão/epidemiologia , Diabetes Mellitus Tipo 1/psicologia , Diabetes Mellitus Tipo 2/psicologia , Sistema de Registros , Adolescente , Criança , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Humanos , Masculino , Programas de Rastreamento , Prevalência , Fatores de Risco
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