Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding GGGGCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked to chromosome 9p. This same repeat expansion was identified in the majority of our families with a combined FTD/ALS phenotype and TDP-43-based pathology.

Endogenous fungal endophthalmitis: causative organisms, management strategies, and visual acuity outcomes.

Purpose: To report the causative organisms, management strategies, and visual outcomes in endogenous fungal endophthalmitis.

Design: Observational case series.

Methods: Microbiologic and medical records were reviewed retrospectively for all patients with culture-positive endogenous fungal endophthalmitis between January 1, 1990, and July 1, 2009.

Endophthalmitis after intravitreal vascular [corrected] endothelial growth factor antagonists: a six-year experience at a university referral center.

Purpose: To assess the rate of infectious endophthalmitis and to describe the clinical and microbiological features of eyes that develop clinically suspected endophthalmitis after an intravitreal injection of vascular endothelial growth factor antagonists.

Methods: The medical records of patients undergoing intravitreal injections of anti-vascular endothelial growth factor agents from January 1, 2005, through December 31, 2010, at a single university referral center and associated satellite clinics were retrospectively analyzed to determine the rate of infectious endophthalmitis after intravitreal anti-vascular endothelial growth factor injections.

Results: Twelve cases (11 patients) of clinically suspected endophthalmitis were identified after a total of 60,322 injections (0.

Intravitreal gentamicin-induced macular infarction: SD-OCT features.

A 75-year-old woman developed acute-onset endophthalmitis following phacoemulsification in the left eye. She was treated with intravitreal injections of vancomycin, ceftazidime, and gentamicin. The patient had persistent visual loss in the left eye after treatment.

Management options for submacular perfluorocarbon liquid.

Background And Objective: To report the anatomic and visual outcomes of patients with retained submacular perfluorocarbon liquid (PFCL).

Patients And Methods: A retrospective observational case series of patients with retained submacular PFCL. The medical and surgical records of 8 eyes of 8 patients with retained submacular PFCL after complex retinal detachment repair were reviewed.

Optical coherence tomography in the diagnosis and management of diabetic macular edema: time-domain versus spectral-domain.

Optical coherence tomography (OCT) is an important imaging modality in the setting of diabetic macular edema (DME). Its use allows more precise evaluation of retinal pathology in DME, including retinal thickness and edema, vitreomacular interface abnormalities, subretinal fluid, and foveal microstructural changes. Additional advantages include its ability to quantitatively monitor response to treatment of DME by laser, intravitreal pharmacotherapies, and vitreoretinal surgery.

Central retinal vein occlusion after intense exercise: response to intravitreal bevacizumab.

A 40-year-old male athlete developed a central retinal vein occlusion after intense exercise and secondary dehydration. A comprehensive systemic evaluation was within the normal range. After a series of 11 intravitreal injections of bevacizumab over a 24-month period, spectral-domain optical coherence tomography showed resolution of macular edema with a 55-letter gain in visual acuity.

Evaluating form and function of regional partnerships: applying social network analysis to the Network for a Healthy California, 2001-2007.

Objective: To evaluate the partnership structure of the Network for a Healthy California (Network), a social marketing program, from 2001-2007, to determine if California's program was able to establish and maintain partnerships that (1) provided access to a local audience, (2) facilitated regional collaboration, (3) included new and nontraditional partners, and (4) strengthened regional networks over time, even with significant administrative changes in 2003 and 2006.

Design: An outcome evaluation using 5 years of cross-sectional data.

Setting: Data drawn from annual progress reports.

Delayed-onset bleb-associated endophthalmitis: presentation and outcome by culture result.

Purpose: To determine how culture results are associated with clinical presentations and outcomes in delayed-onset bleb-associated endophthalmitis (BAE).

Methods: Retrospective consecutive case series of BAE at Bascom Palmer Eye Institute between January 1, 1996 and December 31, 2009. All patients had prior glaucoma filtering surgery.

Lengthened predelivery stay and antepartum complications in women with depressive symptoms during pregnancy.

Unlabelled: Abstract Background: It is crucial to understand the timing and mechanisms behind depression's effect on peripartum stay because attempts to intervene will vary based on the time period involved. We designed this study to compare predelivery and postdelivery length of stay in women with and without elevated depressive symptoms during pregnancy.

Methods: This study involved secondary data analysis of a larger study exploring antepartum depression.

OB CARES--The Obstetric Clinics and Resources Study: providers' perceptions of addressing perinatal depression--a qualitative study.

Objective: We conducted a qualitative study to understand how prenatal care providers perceive influences on their delivery of perinatal depression care. Given that depression screening protocols were in place at the clinics where we sampled providers, we hypothesized that clinic- and system-level factors such as resources, training opportunities and coordination would be dominant in influencing provider decisions.

Methods: We conducted semistructured interviews with 20 prenatal care providers from six obstetric clinics.

Discovery and characterization of small molecule inhibitors of the BET family bromodomains.

Epigenetic mechanisms of gene regulation have a profound role in normal development and disease processes. An integral part of this mechanism occurs through lysine acetylation of histone tails which are recognized by bromodomains. While the biological and structural characterization of many bromodomain containing proteins has advanced considerably, the therapeutic tractability of this protein family is only now becoming understood.

Differential control of Eg5-dependent centrosome separation by Plk1 and Cdk1.

Cyclin-dependent kinase 1 (Cdk1) is thought to trigger centrosome separation in late G2 phase by phosphorylating the motor protein Eg5 at Thr927. However, the precise control mechanism of centrosome separation remains to be understood. Here, we report that in G2 phase polo-like kinase 1 (Plk1) can trigger centrosome separation independently of Cdk1.

Stigma and depression during pregnancy: does race matter?

Rates of depression treatment are low in pregnant women, particularly Black women. Stigma is an important barrier to treatment, but little research has examined how depression stigma differs in Blacks and Whites; a key purpose of this study. Participants were 532 pregnant women recruited in obstetrics settings, who responded to measures of stigma and mood.

Patient preferences for clinician interactional style in treatment of perinatal depression.

Most women with depression around the time of childbearing are not treated adequately, or at all. Clinical practice guidelines focus primarily on provision of information rather than on interaction factors. In this study, we explored clinician interactional style characteristics contributing to patient response to perinatal depression referral and treatment.

Relationships among depression, anxiety, and insomnia symptoms in perinatal women seeking mental health treatment.

Background: Depression and anxiety symptoms are commonly experienced by women during the perinatal period. Changes in sleep and sleep quality are typical throughout pregnancy and early postpartum. However, little is known about relationships between insomnia symptoms and psychiatric symptoms in perinatal women.

Postoperative endophthalmitis caused by Candida parapsilosis: clinical features and treatment outcomes.

Three consecutive patients with postoperative Candida parapsilosis endophthalmitis presented from a single surgeon and surgery center after uncomplicated cataract surgery. All patients were treated with pars plana vitrectomy (PPV), intraocular lens removal, total capsulectomy, and intraoperative injection of intravitreal antifungal agent. Intraoperative cultures of undiluted vitreous and lens capsule were all positive for the fungus.

Global identification of multiple substrates for Plasmodium falciparum SUB1, an essential malarial processing protease.

The protozoan pathogen responsible for the most severe form of human malaria, Plasmodium falciparum, replicates asexually in erythrocytes within a membrane-bound parasitophorous vacuole (PV). Following each round of intracellular growth, the PV membrane (PVM) and host cell membrane rupture to release infectious merozoites in a protease-dependent process called egress. Previous work has shown that, just prior to egress, an essential, subtilisin-like parasite protease called PfSUB1 is discharged into the PV lumen, where it directly cleaves a number of important merozoite surface and PV proteins.

Intravitreal Gentamicin-Induced Macular Infarction: SD-OCT Features.

A 75-year-old woman developed acute-onset endophthalmitis following phacoemulsification in the left eye. She was treated with intravitreal injections of vancomycin, ceftazidime, and gentamicin. The patient had persistent visual loss in the left eye after treatment.

Surgery for full-thickness macular hole in patients with idiopathic macular telangiectasia type 2.

The authors report surgical outcomes of full-thickness macular hole repair in two patients with idiopathic macular telangiectasia in a non-comparative case series. Both patients underwent pars plana vitrectomy with indocyanine green-assisted internal limiting membrane peeling and injection of 16% C(3)F(8) gas. Patients were imaged with optical coherence tomography (OCT) before and after surgery.

Comparative performance of the Edinburgh Postnatal Depression Scale and the Patient Health Questionnaire-9 in pregnant and postpartum women seeking psychiatric services.

Adoption of a standard depression measures across clinics and populations is advantageous for continuity of care and facilitation of research. This study provides information on the comparative utility of a commonly used perinatal-specific depression instrument (the Edinburgh Postnatal Depression Scale-EPDS) with a general depression screener (Patient Health Questionnaire-9-PHQ-9) in a sample of perinatal women seeking psychiatry services within a large health care system. Electronic medical records (which included PHQ-9 and EDPS) were abstracted for a final sample of 81 pregnant and 104 postpartum patients (n=185).

Progression of diabetic tractional retinoschisis by optical coherence tomography.

A 63-year-old woman presented with proliferative diabetic retinopathy with extensive posterior neovascularization in both eyes. Visual acuities were 20/40 in the right eye and 20/400 in the left eye with eccentric fixation. Tractional retinoschisis in the left eye that initially spared the fovea progressed over 3 years to involve the entire macula.