Photopic 30 Hz flicker ERG as a predictor for rubeosis in central retinal vein occlusion.

Aims: To investigate the predictive value of the cone b-wave implicit time in the photopic compared with the scotopic 30 Hz flicker ERG for rubeosis in central retinal vein occlusion.

Methods: 44 patients with a central retinal vein occlusion were examined with full field electroretinogram (ERG).

Results: The average implicit time in the photopic 30 Hz flicker ERG in patients who developed rubeosis (n=15) was 38.

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

We isolated and characterized the entire coding sequence of a human gene encoding a protein that interacts with RPGR, a protein that is absent or mutant in many cases of X-linked retinitis pigmentosa. The newly identified gene, called "RPGRIP1" for RPGR-interacting protein (MIM 605446), is located within 14q11, and it encodes a protein predicted to contain 1,259 amino acids. Previously published work showed that both proteins, RPGR and RPGRIP1, are present in the ciliary structure that connects the inner and outer segments of rod and cone photoreceptors.

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.

We present the clinical and molecular genetic features of a large multi-generation Norwegian family with dominant cone-rod dystrophy. Ophthalmological evaluation including electroretinography showed cone dysfunction in younger patients, with rod dysfunction becoming apparent at more advanced stages of the disease. In one branch of the family, cone degeneration remained the only manifestation despite advancing age.

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.

X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired scotopic vision with associated ocular symptoms such as myopia, hyperopia, nystagmus and reduced visual acuity. Genetic mapping in families with XLCSNB revealed two different loci on the proximal short arm of the X chromosome. These two genetic subtypes can be distinguished on the basis of electroretinogram (ERG) responses and psychophysical testing as a complete (CSNB1) and an incomplete (CSNB2) form.

Implementation and dissemination of methods for prevention of alcohol problems in primary health care: a feasibility study.

Secondary prevention of alcohol problems in health care has been proved efficacious in many studies, yet its implementation remains scarce, and its effectiveness in regular health care remains unknown. This article reports results from a feasibility study of dissemination of alcohol prevention methods in primary health care in Stockholm. Initial interviews with general practitioners (GPs) and district health nurses indicated that few raised the issue of alcohol with patients, made notes about alcohol in patient charts or found working with alcohol issues rewarding.

Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene.

Objective: To describe the clinical phenotype of juvenile X-linked retinoschisis in patients with different mutations in the XLRS1 gene.

Methods: Thirty patients with 7 different XLRS1 mutations were examined. The genotype was determined by molecular genetics, which identified 6 known and 1 novel mutation (exon 5, 489 G-->T).

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.

Purpose: To investigate, using full-field ERG, the retinal function in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN(3) gene.

Methods: Batten disease status of five patients was confirmed by the presence of vacuolated lymphocytes in peripheral blood and the identification of mutations in the Batten disease gene (CLN(3)). Visual acuity, fundus appearance, and full-field ERG were examined in all patients (age 4-19 years).

Over-serving patrons in licensed premises in Stockholm.

Aims: To study the frequency of alcohol service to intoxicated patrons in licensed premises.

Design: Actors were hired to simulate severe intoxication. Following a review of videotaped portrayals of drunken behaviour by the actors, an expert panel of bartenders and restaurant managers determined which scene was least consistent with responsible beverage service.

The 30-Hz flicker cone ERG for monitoring the early course of central retinal vein occlusion.

Purpose: Investigation of the full-field ERG (electoretinography) within 24 hours after the onset of symptoms in central retinal vein occlusion, and repeated examination within the following days and weeks.

Methods: Seven patients with central retinal vein occlusion were examined with full-field ERG within less than 24 hours after the onset of their symptoms and every second to third day during the first 3 weeks. They were then followed for a period of time of six months.

Increased levels of S-100 protein after cardiac surgery with cardiopulmonary bypass and general surgery in children.

The aim of this study was to evaluate changes in concentrations of the neurospecific protein S-100 in relation to cardiac surgery with cardiopulmonary bypass (CPB) and noncardiac general surgery in children below 3 years of age. Seventeen children underwent surgery for congenital heart disease and all survived without clinical signs of neurological complications. Samples for plasma concentrations of S-100 in these patients were taken on three occasions in connection with surgery: before the start of surgery, after CPB and finally 16-20 h after CPB.

Open heart surgery; pump prime effects and cerebral arteriovenous differences in glucose, lactate and ketones.

This study included 17 young children, who were operated with cardioplumonary bypass for congenital heart defects and were cooled to 20 degrees C or 25 degrees C. No glucose, except for the pump prime solution, was administered during surgery. Samples of arterial blood, cerebral venous blood from the jugular bulb and mixed venous blood from the bypass circuit were obtained and analysed for concentrations of glucose, lactate and ketones as well as oxygen saturation.

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene.

Objective: To examine the clinical phenotype of three Swedish families with Best's vitelliform macular dystrophy (BMD) and three different mutations in the recently identified bestrophin gene.

Methods: Three families, including 13 patients, were examined clinically using visual acuity testing, electro-oculography, fundus inspection, and fundus photography. The mutations were previously determined by direct sequence analysis of the individual exons in the bestrophin gene.

Midazolam nasal spray reduces procedural anxiety in children.

Objective: Anxiety and pain even in minor procedures are still great problems in pediatrics, not least in pediatric oncology. Conscious sedation is indicated when other means to overcome a child's fear fail. The aim of this study was to investigate whether intranasal administration of midazolam given before insertion of a needle in a subcutaneously implanted central venous port could reduce anxiety, discomfort, pain, and procedure problems.

Genomic organization of human DLG4, the gene encoding postsynaptic density 95.

We have determined the exon-intron organization and characterized the 5'-flanking promoter region of DLG4. Encompassing approximately 30 kb, the DLG4 locus is composed of 22 exons that range in size from 28 to 1,218 nucleotides. All splice sites conform to the GT-AG rule, except for the splice acceptor site of intron 5, which is TG instead of AG.

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

Juvenile retinoschisis is an X-linked recessive disease caused by mutations in the XLRS1 gene. We screened 31 new unrelated patients and families for XLRS1 mutations in addition to previously reported mutations for 60 of our families (Retinoschisis Consortium, Hum Mol Genet 1998;7:1185-1192). Twenty-three different mutations including 12 novel ones were identified in 28 patients.

The mutation spectrum of the bestrophin protein--functional implications.

Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2 (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration with mainly juvenile onset. BMD is characterized by the accumulation of lipofuscin within and beneath the retinal pigment epithelium. The gene causing the disease has been localized to 11q13 by recombination breakpoint mapping.

[Alcohol abuse prevention in health care services: screening methods and motivational counseling].

Health service prevention of alcohol problems is based on screening and primarily involves motivational counselling. Screening may take the form of routine enquiries about drinking habits. Motivational counselling consists in two parts, assessment of readiness to change, and counselling adapted to the readiness to change.

Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.

Aims: To develop a sensitive mutation screening procedure suitable for routine analysis of the peripherin/RDS gene, and to estimate the nature and prevalence of peripherin/RDS gene mutations in Swedish patients with autosomal dominant retinitis pigmentosa.

Methods: To make the method as sensitive as possible, as many as eight segments, covering the three exons and the flanking intron sequences of the peripherin/RDS gene, were analysed by denaturing gradient gel electrophoresis. A group of 38 Swedish patients with a clinical diagnosis of autosomal dominant retinitis pigmentosa were screened for mutations in the peripherin/RDS gene.

Jugular bulb temperature compared with non-invasive temperatures and cerebral arteriovenous oxygen saturation differences during open heart surgery.

Limited information is available about the correlation between cerebral temperature and routine temperature measurements during cardiopulmonary bypass in infants. Nasopharyngeal, tympanic membrane and rectal temperatures were compared with jugular bulb temperature in ten infants operated on with moderate or deep hypothermia. The cerebral arteriovenous saturation differences were correlated with the temperatures at the four measurement sites.

Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype.

Purpose: To examine the clinical phenotype with emphasis on electroretinograms and visual fields in a Swedish family with X-linked retinitis pigmentosa (XLRP) type 2 (RP2), and compare it with Swedish XLRP families with the RP3 genotype.

Methods: Three affected brothers and their carrier mother were examined clinically and with kinetic perimetry, dark adaptation thresholds, and full-field electroretinograms. The genotype was determined by haplotype analysis using polymorphic markers spanning the XLRP loci at the short arm of the X chromosome.

Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families.

Unlabelled: Stargardt disease (STGD) or fundus flavimaculatus (FFM) is one of the most frequent causes of macular degeneration in childhood. The disease is inherited as an autosomal recessive trait and the corresponding gene has been localized to chromosome 1p21-22 and subsequently identified as the ATP-binding cassette transporter (ABCR) gene.

Purpose: To characterize Finnish and Swedish STGD families genetically, with special reference to chromosome region 1p21-22.

Methaemoglobin formation after the use of EMLA cream in term neonates.

EMLA cream 5% (a eutectic mixture of lidocaine and prilocaine) is a topical anaesthetic that has become widely used to minimize pain from venipuncture in children. It has not, however, been recommended in neonates owing to the potential risk of methaemoglobinaemia induced by prilocaine. The aim of this study was to establish the safety of 1 g EMLA cream 5% used on intact skin in term neonates.

A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.

Purpose: To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene.

Methods: Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven patients with autosomal dominant retinitis pigmentosa and three healthy family members. Denaturing gradient gel electrophoresis (DGGE) was used for mutation screening in seven patients and six healthy members of the family.

Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.

Purpose: To assess the clinical phenotype in a Swedish family with X-linked retinitis pigmentosa (XLRP) resulting from a novel splice defect in the RPGR gene.

Methods: RPGR mutation analysis was performed in one family with XLRP, and several individuals from the family were examined clinically.

Results: The causative mutation in the family was demonstrated to be a single base-pair change at the splice donor site in intron 7 that resulted in skipping of the complete exon 7 in the mature RPGR transcript.

Alcohol and J-shaped curves.

Many studies report J- or U-shaped curves in describing the association between level of alcohol consumption and mortality. J-shaped curves may, however, be the result of complex associations between psychosocial and other confounding factors and health, rather than a simple causal association derived from the biological effects of alcohol. In this review, nine methodological issues are discussed: age and sex, causes of death, characteristics of abstainers, drinking pattern, smoking, diet, physical activity, social support and personality, and psychopathology.