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1.
Artigo em Inglês | MEDLINE | ID: mdl-33548354

RESUMO

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that is predominantly caused by alterations of the methyl-CpG-binding protein 2 (MECP2) gene. Disease severity and the presence of comorbidities such as gastrointestinal distress vary widely across affected individuals. The gut microbiome has been implicated in neurodevelopmental disorders such as Autism Spectrum Disorder (ASD) as a regulator of disease severity and gastrointestinal comorbidities. Although the gut microbiome has been previously characterized in humans with RTT compared to healthy controls, the impact of MECP2 mutation on the composition of the gut microbiome in animal models where the host and diet can be experimentally controlled remains to be elucidated. By evaluating the microbial community across postnatal development as behavioral symptoms appear and progress, we have identified microbial taxa that are differentially abundant across developmental timepoints in a zinc-finger nuclease rat model of RTT compared to WT. We have additionally identified p105 as a key translational timepoint. Lastly, we have demonstrated that fecal SCFA levels are not altered in RTT rats compared to WT rats across development. Overall, these results represent an important step in translational RTT research.


Assuntos
Microbioma Gastrointestinal/fisiologia , Proteína 2 de Ligação a Metil-CpG/genética , Mutação , Síndrome de Rett/microbiologia , Animais , Modelos Animais de Doenças , Ácidos Graxos Voláteis/metabolismo , Feminino , Proteína 2 de Ligação a Metil-CpG/metabolismo , Ratos , Síndrome de Rett/genética , Síndrome de Rett/metabolismo
2.
Ophthalmology ; 102(12): 1973-86, 1995 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-9098305

RESUMO

BACKGROUND: Proper delegation of routine tasks to trained personnel might increase cost efficiency by freeing the physician to concentrate on the medical and judgmental aspects of patient care. In ophthalmology, certified ophthalmic medical personnel (OMP) assist the physician by performing many tasks. The Joint Commission on Allied Health Personnel in Ophthalmology (JCAHPO) selected 77 specific tasks performed by OMP and conducted a task analysis survey to determine the importance of these tasks to ophthalmic practice. Individual and practice demographics were surveyed simultaneously to compare the effect of individual and practice differences on task importance. METHODS: Certified OMP and their sponsoring ophthalmologists were surveyed independently. Each group was asked to rate the importance of the 77 selected tasks using a five-point scale of importance. Importance ratings from each survey group were used independently to generate a rank order listing of tasks. RESULTS: Only 3 of the 77 tasks differed significantly in importance between ophthalmologists and OMP. The same five tasks were rated as most important by both groups, whereas the second group of the five most important tasks varied only by +/-4. CONCLUSIONS: The similarity in task importance rankings indicates a common perception between ophthalmologists and OMP concerning the role played by OMP in ophthalmic eye care.


Assuntos
Pessoal Técnico de Saúde/tendências , Certificação , Atenção à Saúde/tendências , Oftalmologia/tendências , Análise e Desempenho de Tarefas , Pessoal Técnico de Saúde/estatística & dados numéricos , Atenção à Saúde/estatística & dados numéricos , Feminino , Humanos , Masculino , Oftalmologia/estatística & dados numéricos , Estados Unidos
3.
J Clin Neuroophthalmol ; 12(1): 15-6, 1992 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-1532594

RESUMO

A 9-year-old girl with recently diagnosed juvenile onset diabetes mellitus presented with signs and symptoms of bilateral optic neuropathy. Leber's hereditary optic neuropathy was suspected on the basis of a strong family history. Subsequent mitochondrial DNA testing was positive. Visual recovery occurred once the diabetes was well controlled. This case suggests that such metabolic compromise that occurs in diabetes may precipitate the clinical expression of Leber's optic neuropathy.


Assuntos
Atrofias Ópticas Hereditárias/metabolismo , Criança , Análise Mutacional de DNA , DNA Mitocondrial , Diabetes Mellitus Tipo 1/metabolismo , Feminino , Humanos , Atrofias Ópticas Hereditárias/genética , Acuidade Visual
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