نتایج جستجو برای: atrophoderma vermiculara
تعداد نتایج: 268 فیلتر نتایج به سال:
A series of studies were conducted to explore the mechanism of the pharmacokinetic interaction between simvastatin (SV) and gemfibrozil (GFZ) reported recently in human subjects. After administration of a single dose of SV (4 mg/kg p.o.) to dogs pretreated with GFZ (75 mg/kg p.o., twice daily for 5 days), there was an increase (approximately 4-fold) in systemic exposure to simvastatin hydroxy a...
AIM To describe the clinical characteristics and disease course of a large family with retinitis pigmentosa (RP) from an Arg135Leu change in rhodopsin. METHODS 29 patients in this family were evaluated. Goldmann visual fields were performed on 14 affected individuals, Ganzfeld electroretinography (ERG) on eight individuals (11-56 years), and blood samples collected on 10 individuals (11-58 ye...
Impact of blood pressure on the Doppler echocardiographic assessment of severity of aortic stenosis.
OBJECTIVE To investigate the impact of blood pressure (BP) on the Doppler echocardiographic (Doppler-echo) evaluation of severity of aortic stenosis (AS). METHODS Handgrip exercise or phenylephrine infusion was used to increase BP in 22 patients with AS. Indices of AS severity (mean pressure gradient (DeltaP(mean)), aortic valve area (AVA), valve resistance, percentage left ventricular stroke...
In this paper we investigate the image aesthetics classification problem, aka, automatically classifying an image into low or high aesthetic quality, which is quite a challenging problem beyond image recognition. Deep convolutional neural network (DCNN) methods have recently shown promising results for image aesthetics assessment. Currently, a powerful inception module is proposed which shows v...
IN this paper we are concerned, not with the simple tumours-fibroma, lipoma, lymphangioma, lymphosarcoma, round-cell sarcoma-which occasionally (though rarely) arise in the thymus, as in other parts of the body, but with those which arise from the essential epithelioid cells of the thymic medulla associated in greater or lesser proportion with lymphocyte-like cells (probably really lymphocytes)...
IMPORTANCE Stargardt disease (STGD1) is characterized by macular atrophy and flecks in the retinal pigment epithelium. The causative ABCA4 gene encodes a protein localizing to photoreceptor outer segments. The pathologic steps by which ABCA4 mutations lead to clinically detectable retinal pigment epithelium changes remain unclear. We investigated early STGD1 using adaptive optics scanning light...
Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients' molecular and clinical diagnoses. In this study, we wanted to clinically characterize and investigate the molecular etiology of an atypical form of autosomal recessive retinal dystrophy in two consanguineous Spanish families. Affected members of the respective families exhibite...
Genes that specify cell fate can influence multiple aspects of neuronal differentiation, including axon guidance, target selection and synapse formation. Mutations in the unc-42 gene disrupt axon guidance along the C. elegans ventral nerve cord and cause distinct functional defects in sensory-locomotory neural circuits. Here we show that unc-42 encodes a novel homeodomain protein that specifies...
Human infants with congenital Zika virus (ZIKV) infection exhibit a range of symptoms including microcephaly, intracranial calcifications, macular atrophy and arthrogryposis. More importantly, prognosis data have lagged far behind the recent outbreak of ZIKV in 2015. In this work, we allow congenitally ZIKV-infected mice to grow into puberty. These mice exhibited motor incoordination and visual...
This case report describes the retinal optical coherence tomography (OCT) findings in a microcephalic infant with macular atrophy presumably caused by intrauterine Zika virus infection. OCT demonstrated atrophy of the outer retinal layers and choriocapillaris, including the outer nuclear layer and ellipsoid zone, associated with retinal pigment epithelium hyper-reflectivity and increased OCT pe...
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