Genetic relationships between the RACK1 homolog cpc-2 and heterotrimeric G protein subunit genes in Neurospora crassa.

Receptor for Activated C Kinase-1 (RACK1) is a multifunctional eukaryotic scaffolding protein with a seven WD repeat structure. Among their many cellular roles, RACK1 homologs have been shown to serve as alternative Gβ subunits during heterotrimeric G protein signaling in many systems. We investigated genetic interactions between the RACK1 homolog cpc-2, the previously characterized Gβ subunit gnb-1 and other G protein signaling components in the multicellular filamentous fungus Neurospora crassa.

Correlation and Agreement Between Cirrus HD-OCT "RNFL Thickness Map" and Scan Circle Retinal Nerve Fiber Layer Thickness Measurements.

Purpose: To evaluate the correlation and agreement between optical coherence tomography (Cirrus HD-OCT) retinal nerve fiber layer (RNFL) thickness map and scan circle RNFL thickness measurements.

Methods: ImageJ and custom Perl scripts were used to derive RNFL thickness measurements from RNFL thickness maps of optic disc scans of healthy and glaucomatous eyes. Average, quadrant, and clock-hour RNFL thickness of the map, and RNFL thickness of the areas inside/outside the scan circle were obtained.

Cup-to-Disc Ratio in Idiopathic Intracranial Hypertension without Papilloedema.

This study seeks to characterise potential differences in the cup-to-disc ratio (CDR) of patients with idiopathic intracranial hypertension (IIH) with papilloedema (IIHWP) compared with IIH without papilloedema (IIHWOP). The medical charts, optical coherence tomography (OCT), and digital optic disc photos of 30 patients (59 eyes) with IIHWP and 4 patients (8 eyes) with IIHWOP were reviewed retrospectively. The CDR values of the two groups were analysed using the Wilcoxon-Mann-Whitney test.

Outflow tract ablation using a conditionally cytotoxic feline immunodeficiency viral vector.

Purpose: To create an in vivo model of vector-mediated trabecular meshwork (TM) ablation and replacement.

Methods: We generated a conditionally cytotoxic, trackable vector, HSVtkiG, that expressed herpes simplex virus 1 thymidine kinase (HSVtk) and enhanced green fluorescent protein (eGFP). We optimized HSVtkiG ablation in vitro with ganciclovir (GCV) in comparison to eGFP control vector GINSIN and investigated the mechanism.

Post-traumatic amaurosis secondary to paraophthalmic internal carotid artery pseudoaneurysm treated with pipeline embolization device.

During evaluation for monocular visual loss, a 48-year-old woman was found to have a posttraumatic paraophthalmic internal carotid artery (ICA) pseudoaneurysm. She underwent reconstruction of the ophthalmic segment of the right ICA with a Pipeline embolization device but her vision did not return.

Rhino-orbital Mucormycosis Treated Successfully with Posaconazole without Exenteration.

Mucormycosis is a rare and often fatal opportunistic angioinvasive infection seen mostly in immunocompromised patients, such as those with diabetes mellitus, cancer, or renal failure. Ophthalmic manifestations of orbital mucormycosis include ocular pain, periocular oedema, visual loss, ophthalmoplegia, proptosis, and ptosis. Although therapy for orbital mucormycosis consists of maximally tolerated doses of antifungal agents (e.

Neuroimaging in ophthalmology.

In the past three decades, there have been countless advances in imaging modalities that have revolutionized evaluation, management, and treatment of neuro-ophthalmic disorders. Non-invasive approaches for early detection and monitoring of treatments have decreased morbidity and mortality. Understanding of basic methods of imaging techniques and choice of imaging modalities in cases encountered in neuro-ophthalmology clinic is critical for proper evaluation of patients.

Effect of symptom duration on outcomes following vitrectomy repair of primary macula-off retinal detachments.

Purpose: To examine the effect of symptom duration on visual and anatomical outcomes following pars plana vitrectomy repair of primary macula-off rhegmatogenous retinal detachments.

Methods: This is a retrospective, consecutive, interventional case series. All eyes underwent repair of macula-off rhegmatogenous retinal detachment with a 20-gauge, 23-gauge, or 25-gauge standard 3-port pars plana vitrectomy.

Down but not out.

A 20-year-old Hispanic man with Down syndrome presented with progressively worsening headache, fluctuating decreased vision, and bilateral optic disk edema. Magnetic resonance imaging of the head showed an empty sella, and magnetic resonance venography showed thrombosis of left transverse and sigmoid sinuses. Catheter angiography angiogram showed a dural arteriovenous fistula in the wall of left transverse and sigmoid sinuses.

Conjugal giant cell arteritis.

While the pathogenesis of giant cell arteritis (GCA) remains unclear, a number of factors may be contributory, including genetic, environmental, and immune. There have been few reports of GCA occurring in a conjugal pair, all originating from Northern Europe or the Northern United States. We document GCA occurring in a husband and wife from the southern Gulf Coast of the United States and discuss the implications of this, as well as the current understanding of the pathogenesis of GCA.

Use of 1H nuclear magnetic resonance to measure intracellular metabolite levels during growth and asexual sporulation in Neurospora crassa.

Conidiation is an asexual sporulation pathway that is a response to adverse conditions and is the main mode of dispersal utilized by filamentous fungal pathogens for reestablishment in a more favorable environment. Heterotrimeric G proteins (consisting of α, β, and γ subunits) have been shown to regulate conidiation in diverse fungi. Previous work has demonstrated that all three of the Gα subunits in the filamentous fungus Neurospora crassa affect the accumulation of mass on poor carbon sources and that loss of gna-3 leads to the most dramatic effects on conidiation.

From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene.

Hypertension places a major burden on individual and public health, but the genetic basis of this complex disorder is poorly understood. We conducted a genome-wide association study of systolic and diastolic blood pressure (SBP and DBP) in Amish subjects and found strong association signals with common variants in a serine/threonine kinase gene, STK39. We confirmed this association in an independent Amish and 4 non-Amish Caucasian samples including the Diabetes Genetics Initiative, Framingham Heart Study, GenNet, and Hutterites (meta-analysis combining all studies: n = 7,125, P < 10(-6)).

Multiple genes for essential-hypertension susceptibility on chromosome 1q.

Essential hypertension, defined as elevated levels of blood pressure (BP) without any obvious cause, is a major risk factor for coronary heart disease, stroke, and renal disease. BP levels and susceptibility to development of essential hypertension are partially determined by genetic factors that are poorly understood. Similar to other efforts to understand complex, non-Mendelian phenotypes, genetic dissection of hypertension-related traits employs genomewide linkage analyses of families and association studies of patient cohorts, to uncover rare and common disease alleles, respectively.

Inhibition of infectious human immunodeficiency virus type 1 virions via lentiviral vector encoded short antisense RNAs.

During the life cycles of most retroviruses and lentiviruses, dimerization and packaging of two copies of viral genomic RNA is required for the subsequent conversion of RNA into double stranded DNA by reverse transcriptase. For human immunodeficiency virus type 1 (HIV-1), dimerization is mediated by interactions of the stem-loop structures in the dimerization-packaging, or psi (Psi) domain. We have tethered anti-HIV gag ribozymes and small antisense RNAs to the HIV Psi domain in an HIV-1 lentiviral vector to facilitate copackaging of these replication inhibitors with HIV genomic RNAs during HIV infectious challenge.

The impact of data quality on the identification of complex disease genes: experience from the Family Blood Pressure Program.

The application of genome-wide linkage scans to uncover susceptibility loci for complex diseases offers great promise for the risk assessment, treatment, and understanding of these diseases. However, for most published studies, linkage signals are typically modest and vary considerably from one study to another. The multicenter Family Blood Pressure Program has analyzed genome-wide linkage scans of over 12 000 individuals.

Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion.

Hypertension is a leading cause of stroke, heart disease, and kidney failure. The genetic basis of blood pressure variation is largely unknown but is likely to involve genes that influence renal salt handling and arterial vessel tone. Here we argue that susceptibility to hypertension is ancestral and that differential susceptibility to hypertension is due to differential exposure to selection pressures during the out-of-Africa expansion.

Negative feedback inhibition of HIV-1 by TAT-inducible expression of siRNA.

Here we demonstrate that an inducible anti-HIV short hairpin RNA (shRNA) expressed from a Pol II promoter inhibits HIV-1 gene expression in mammalian cells. Our strategy is based on a promoter system in which the HIV-1 LTR is fused to the Drosophila hsp70 minimal heat shock promoter. This system is inducible by HIV-1 TAT, which functions in a negative feedback loop to activate transcription of an shRNA directed against HIV-1 rev.