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1.
Am J Emerg Med ; 82: 214.e1-214.e3, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38945757

RESUMO

A case of Alien hand syndrome as a presentation of an acute left parietal stroke to improve emergency providers recognition of the condition as a manifestation of acute stroke. We report a case of an 81-year-old female who presented with a complaint of inability to control her right arm accompanied with a subjective sense of right upper extremity numbness and weakness. It was later identified that the patient had an acute left parietal stroke and was describing alien hand syndrome, described as involuntary movements of the right hand and upper extremity. This presentation of stroke is important for emergency providers to recognize as it is uncommon, greater awareness by emergency providers may improve stroke outcomes by early detection and activation of routine acute stroke interventions. SUMMARY: In this case report a patient presented with alien hand syndrome, with inability to control her right hand along with a subjective complaint of numbness and reduction in strength in the right upper extremity, found to be due to an acute left parietal stroke that was confirmed by MRI imaging.


Assuntos
Fenômeno do Membro Alienígena , Serviço Hospitalar de Emergência , Acidente Vascular Cerebral , Humanos , Feminino , Idoso de 80 Anos ou mais , Fenômeno do Membro Alienígena/diagnóstico , Fenômeno do Membro Alienígena/etiologia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/diagnóstico por imagem , Imageamento por Ressonância Magnética , Lobo Parietal/diagnóstico por imagem
2.
BMC Biol ; 21(1): 22, 2023 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-36737727

RESUMO

BACKGROUND: Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be heritable in nature, with 80% of cases displaying loss-of-function mutations in the ocular developmental genes OTX2 or SOX2, the genetic abnormalities underlying the remaining cases of MAC are incompletely understood. This study intended to identify the novel genes and pathways required for early eye development. Additionally, pathways involved in eye formation during embryogenesis are also incompletely understood. This study aims to identify the novel genes and pathways required for early eye development through systematic forward screening of the mammalian genome. RESULTS: Query of the International Mouse Phenotyping Consortium (IMPC) database (data release 17.0, August 01, 2022) identified 74 unique knockout lines (genes) with genetically associated eye defects in mouse embryos. The vast majority of eye abnormalities were small or absent eyes, findings most relevant to MAC spectrum disease in humans. A literature search showed that 27 of the 74 lines had previously published knockout mouse models, of which only 15 had ocular defects identified in the original publications. These 12 previously published gene knockouts with no reported ocular abnormalities and the 47 unpublished knockouts with ocular abnormalities identified by the IMPC represent 59 genes not previously associated with early eye development in mice. Of these 59, we identified 19 genes with a reported human eye phenotype. Overall, mining of the IMPC data yielded 40 previously unimplicated genes linked to mammalian eye development. Bioinformatic analysis showed that several of the IMPC genes colocalized to several protein anabolic and pluripotency pathways in early eye development. Of note, our analysis suggests that the serine-glycine pathway producing glycine, a mitochondrial one-carbon donator to folate one-carbon metabolism (FOCM), is essential for eye formation. CONCLUSIONS: Using genome-wide phenotype screening of single-gene knockout mouse lines, STRING analysis, and bioinformatic methods, this study identified genes heretofore unassociated with MAC phenotypes providing models to research novel molecular and cellular mechanisms involved in eye development. These findings have the potential to hasten the diagnosis and treatment of this congenital blinding disease.


Assuntos
Anoftalmia , Coloboma , Anormalidades do Olho , Microftalmia , Humanos , Camundongos , Animais , Anormalidades do Olho/genética , Anoftalmia/genética , Microftalmia/genética , Coloboma/genética , Camundongos Knockout , Desenvolvimento Embrionário/genética , Fenótipo , Olho , Mamíferos
3.
Sci Rep ; 12(1): 20791, 2022 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-36456625

RESUMO

We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes. We first screened for phenotypes in mouse lines with both ocular and renal or reproductive trait abnormalities. The STRING protein interaction tool was used to identify interactions between known cilia gene products and those encoded by the genes in individual knockout mouse strains in order to generate a list of "candidate ciliopathy genes." From this list, 32 genes encoded proteins predicted to interact with known ciliopathy proteins. Of these, 25 had no previously described roles in ciliary pathobiology. Histological and morphological evidence of phenotypes found in ciliopathies in knockout mouse lines are presented as examples (genes Abi2, Wdr62, Ap4e1, Dync1li1, and Prkab1). Phenotyping data and descriptions generated on IMPC mouse line are useful for mechanistic studies, target discovery, rare disease diagnosis, and preclinical therapeutic development trials. Here we demonstrate the effective use of the IMPC phenotype data to uncover genes with no previous role in ciliary biology, which may be clinically relevant for identification of novel disease genes implicated in ciliopathies.


Assuntos
Ciliopatias , Camundongos , Animais , Camundongos Knockout , Ciliopatias/genética , Técnicas de Inativação de Genes , Cílios/genética , Bases de Dados Factuais , Proteínas do Tecido Nervoso , Proteínas de Ciclo Celular
4.
J Ophthalmol ; 2020: 8866961, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33489347

RESUMO

AIMS: This chart review of a quaternary academic medical center electronic medical record (EMR) aimed to identify patients at risk of development of maculopathy with exposure to pentosan polysulfate sodium (PPS). METHODS: A review of electronic medical records of a quaternary medical center of patients with either documented exposure to PPS or diagnosis of interstitial cystitis (IC) from 2007 to 2019 was performed for retinal imaging and visual acuity; the study was conducted in August of 2019. RESULTS: 216 charts were included for analysis, of which 96 had documented eye exams and 24 had retinal imaging done. We identified three patients with maculopathy in the context of long-term exposure to PPS via chart review, and one additional patient was identified by referral. The median PPS exposure duration was 11 years (range 7 to 19 years). Median logMAR BCVA OD 0.6 range was 0.0-1.9 (approximate Snellen equivalent 20/80 range (20/20-20/1600)) and OS 0.7 range was 0.1-1.9 (approximate Snellen equivalent 20/100 range (20/25-20/1600)). Ultrawidefield color fundus imaging and fundus autofluorescence revealed findings of pigmentary changes and patchy macular atrophy. Optical coherence tomography (OCT) demonstrated outer retinal thinning and increased choroidal transmission coincident with areas of atrophy seen on fundus imaging. CONCLUSIONS: Less than half of patients at risk for development of maculopathy due to exposure to PPS had received eye examinations, suggesting that those at risk are not receiving adequate screening. We found two patients with PPS maculopathy who had relatively preserved central vision, one patient with bitemporal vision loss, and one patient who developed vision loss in both eyes.

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