Navigating cardiac arrest together: A survivor and family-led co-design study of family needs and care touchpoints.

Introduction: This study aimed to i) identify the care needs of families experiencing cardiac arrest; and ii) co-identify strategies for meeting the identified care needs. Cardiac arrest survivors and family members (of survivors and non-survivors) were engaged as "experience experts," collaborators and co-researchers in this study.

Methods: A qualitative study using semi-structured interviews of cardiac arrest survivors and family members was conducted.

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can lead to varying degrees of visual impairment. The discovery of pathogenic variants in numerous genes associated with these conditions has deepened our understanding of the molecular pathways that influence both vision and disease manifestation and may ultimately lead to novel therapeutic approaches. Over the past 18 years, our DNA diagnostics unit has been performing genetic testing on patients suspected of having IRD or ION, using state-of-the-art mutation detection technologies that are continuously updated.

What Are the Care Needs of Families Experiencing Sudden Cardiac Arrest? A Survivor- and Family-Performed Systematic Review, Qualitative Meta-Synthesis, and Clinical Practice Recommendations.

Introduction: Cardiac arrest care systems are being designed and implemented to address patients', family members', and survivors' care needs. We conducted a systematic review and a meta-synthesis to understand family experiences and care needs during cardiac arrest care to create treatment recommendations.

Methods: We searched eight electronic databases to identify articles.

Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).

Background: Chloroquine (CQ) and hydroxychloroquine (HCQ) are used to treat auto-immune related diseases such as rheumatoid arthritis (RA) or systemic lupus erythematosus. Both drugs however can cause retinal toxicity eventually leading to irreversible maculopathy and retinopathy. Established risk factors are duration and dosage of treatment while the involvement of genetic factors contributing to toxic maculopathy is largely unclear.

Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.

Adult Refsum disease is characterized by an elevated plasma phytanic acid level and high concentrations of phytanic acid in a variety of tissues. Besides tapetoretinal degeneration, additional symptoms are anosmia, skeletal malformations, chronic polyneuropathy, cerebellar ataxia, sensorineural hearing loss, ichthyosis, and cardiac abnormalities. A diet low in phytanic acid ameliorates polyneuropathy and ataxia and slows or even stops the other manifestations.

PKC{alpha} is essential for the proper activation and termination of rod bipolar cell response.

Purpose: Protein kinase (PKC)-α is abundant in retinal bipolar cells. This study was performed to explore its role in visual processing.

Methods: PKCα-knockout (Prkca(-/-)) mice and control animals were examined by using electroretinography (ERG), light microscopy, and immunocytochemistry.

Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies.

Purpose: To compare melanin-related near-infrared fundus autofluorescence (NIA; excitation 787 nm, emission > 800 nm) to lipofuscin-related fundus autofluorescence (FAF; excitation 488 nm, emission > 500 nm) in patients with retinal dystrophies associated with ABCA4 gene mutations (ABCA4-RD).

Design: Observational case series.

Methods: Sixteen consecutive patients with ABCA4-RD diagnosed in one institution were included.

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa.

Aims: To compare melanin-related near-infrared fundus autofluorescence (FAF; NIA, excitation 787 nm, emission >800 nm) with lipofuscin-related FAF (excitation 488 nm, emission >500 nm) in retinitis pigmentosa (RP).

Methods: Thirty-three consecutive RP patients with different modes of inheritance were diagnosed clinically, with full-field ERG, and if possible with molecular genetic methods. FAF and NIA imaging were performed with a confocal scanning laser ophthalmoscope (Heidelberg Retina Angiograph 2).

Cataract surgery and the development or progression of age-related macular degeneration: a systematic review.

Age-related macular degeneration and cataract are the most frequent eye disorders of elderly people worldwide. The aim of this systematic review was to evaluate the effect of cataract surgery on the development and progression of age-related macular degeneration. Data were collected by means of a systematic literature search in 28 databases and an additional update in Pubmed.

Altered metabolism in frontal brain circuits in cluster headache.

Neuroimaging studies have explored cerebral activation patterns in patients with cluster headache (CH) during attacks and have revealed activation of multiple brain areas known to belong to the general pain-processing network. However, it is still unclear which changes in brain metabolism are inherent to the shift from the 'in bout' to the 'out of bout' period. We measured cerebral glucose metabolism in 11 episodic CH patients during the cluster and again during the remission period with (18)F-fluoro-2-deoxy-D-glucose-positron emission tomography (FDG-PET) and compared these data with 11 healthy controls.

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.

Purpose: In a spontaneous mutant substrain of C57BL/10 mice, severely affected retinal ribbon-type synapses have been described. The retinopathy was accompanied by a substantial loss in the activities of the second-order neurons. Rod photoreceptor responses were maintained with reduced amplitude, whereas cone activities were absent.

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.

ClC-7 is a chloride channel of late endosomes and lysosomes. In osteoclasts, it may cooperate with H(+)-ATPases in acidifying the resorption lacuna. In mice and man, loss of ClC-7 or the H(+)-ATPase a3 subunit causes osteopetrosis, a disease characterized by defective bone resorption.

Increased salivary cortisol concentrations during chronic alcohol intoxication in a naturalistic clinical sample of men.

Background: Cortisol, the primary glucocorticoid in humans, is intimately involved in the regulation of such varied and critical biological processes as emotion, cognition, reward, immune functioning, and energy utilization. A persistent increase in cortisol concentration as a result of chronic intoxication could therefore result in alcohol-related disorders such as sleep disruption, cognitive deficits, diabetes, and mood disturbances. Although moderate levels of acute alcohol ingestion are reported to produce an increase in cortisol levels, it is uncertain whether cortisol remains persistently increased during long-term chronic intoxication.

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.

Several plasma membrane chloride channels are well characterized, but much less is known about the molecular identity and function of intracellular Cl- channels. ClC-3 is thought to mediate swelling-activated plasma membrane currents, but we now show that this broadly expressed chloride channel is present in endosomal compartments and synaptic vesicles of neurons. While swelling-activated currents are unchanged in mice with disrupted ClC-3, acidification of synaptic vesicles is impaired and there is severe postnatal degeneration of the retina and the hippocampus.

Abnormalities of the photoreceptor-bipolar cell synapse in a substrain of C57BL/10 mice.

Purpose: A preferential loss of ERG b-wave was detected in a substrain of C57BL/10 mice. Electroretinographic and histologic techniques were used to investigate this hitherto unknown retinopathy.

Methods: ERGs were obtained from normal and affected C57BL/10.

Disruption of the 11-cis-retinol dehydrogenase gene leads to accumulation of cis-retinols and cis-retinyl esters.

To elucidate the possible role of 11-cis-retinol dehydrogenase in the visual cycle and/or 9-cis-retinoic acid biosynthesis, we generated mice carrying a targeted disruption of the 11-cis-retinol dehydrogenase gene. Homozygous 11-cis-retinol dehydrogenase mutants developed normally, including their retinas. There was no appreciable loss of photoreceptors.

Spatial cone activity distribution in diseases of the posterior pole determined by multifocal electroretinography.

Thirty patients with a reduced central vision due to diseases of the posterior pole were examined with the VERIS system developed by Sutter and Tran (Vis Res 1992;32:433-446) to characterize the topography of electroretinographic (ERG) changes in comparison to the results in 30 normal volunteers. Diagnoses included Stargardt's macular dystrophy (SMD, n = 10), age-related macular degeneration (AMD, n = 5), cone dystrophy (CD, n = 5), central retinal vein occlusion (CRVO, n = 5), and autosomal dominant optic atrophy (ADOA, n = 5). The 61 local responses obtained from each subjects were grouped by eccentricity to form five concentric rings.

Inner retinal function in hereditary retinal dystrophies.

Hereditary retinal dystrophies are most often disorders of photoreceptors and/or the retinal pigment epithelium. Structures secondary to the photoreceptor layer such as bipolar, horizontal, amacrine and ganglion cells are secondarily involved. In later stages of the disease a mild to moderate loss of inner retina occurs, but the second and third neurons remain surprisingly viable even in late and severe stages of retinal dystrophies.

Multifocal electroretinography in patients with Stargardt's macular dystrophy.

Aims: To describe the topography of multifocal electroretinograms (ERGs) and to explore its diagnostic value in patients with Stargardt's macular dystrophy (SMD).

Methods: 51 patients with SMD were examined by means of the m-sequence technique to characterise the topography of electroretinographic responses in the central visual field. The results were compared with data from 30 normal volunteers.

Retinoschisislike alterations in the mouse eye caused by gene targeting of the Norrie disease gene.

Purpose: To investigate the retinal function and morphology of mice carrying a replacement mutation in exon 2 of the Norrie disease gene.

Methods: Recently, Norrie disease mutant mice have been generated using gene targeting technology. The mutation removes the 56 N-terminal amino acids of the Norrie gene product.