Cataracts in systemic diseases and syndromes.

A comprehensive review of the ophthalmic literature on cataracts during the past year is presented. Topics covered include new epidemiologic associations, diabetic cataracts, and syndromes involving cataracts. Data from the Beaver Dam Eye Study suggest the presence of a recessive gene for nuclear sclerosis.

Action research: a method for practitioners.

Nursing research has frequently been criticized for its inability to shape or be shaped by clinical practice. One method that involves clinicians and researchers in the pursuit of research and change is action research. The purpose of this paper is to present action research as a technique that combines grounded methods with organizational change to enhance clinical practice, an approach widely used in Australia and England.

Comparison of the effects of Ca2+, adenine nucleotides and pH on the kinetic properties of mitochondrial NAD(+)-isocitrate dehydrogenase and oxoglutarate dehydrogenase from the yeast Saccharomyces cerevisiae and rat heart.

The regulatory properties of NAD(+)-isocitrate dehydrogenase and oxoglutarate dehydrogenase in extracts of yeast and rat heart mitochondria were studied under identical conditions. Yeast NAD(+)-isocitrate dehydrogenase exhibits a low K0.5 for isocitrate and is activated by AMP and ADP, but is insensitive to ATP and Ca2+.

Atwater and USDA nutrition research and service: a prologue of the past century.

A century of scientific investigations into the ways that air reacts with carbon, led to the discovery of the conservation of mass and the energy equivalence of foods. Atwater synthesized existing knowledge, most of it based on his own investigations, to define the caloric equivalence of protein, fat, and carbohydrates; 4, 8.9, 4 per gram.

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q.

Background And Objective: We identified a large family affected with a macular dystrophy whose main clinical features are similar to those of Stargardt's disease. Unlike true Stargardt's disease, the disorder in this family is inherited in an autosomal dominant fashion. We sought to identify the chromosomal location of the disease-causing gene and to clinically define the phenotype in a number of affected family members.

Diagnosis of congenital syphilis in adults presenting with interstitial keratitis.

In the antibiotic era the ophthalmologist has become less familiar with the diagnosis of congenital syphilis. The recognition of this disease is crucial, as neurosyphilis or cardiovascular syphilis will develop in a substantial number of patients with latent congenital syphilis without the appropriate treatment. We describe eight patients aged 60 years or more who presented with refractive problems in whom congenital syphilis was subsequently diagnosed for the first time.

Phacoemulsification with aspirated or retained Viscoat.

Endothelial cell counts, morphology, and 24-hour postoperative intraocular pressure (IOP) changes were measured in 55 consecutive patients (60 eyes) who had uncomplicated phacoemulsification and posterior chamber lens implantation with either aspirated (30 eyes) or retained (30 eyes) Viscoat (sodium chondroitin sulfate-sodium hyaluronate). The surgical technique was standardized in all cases. Endothelial cell loss was almost identical in the aspirated and in the retained groups (8.

Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.

Vitelliform macular dystrophy (Best disease) is an autosomal dominant macular dystrophy which shares important clinical features with age-related macular degeneration, the most common cause of legal blindness in the elderly. Unfortunately, our understanding and treatment for this common age-related disorder is limited. Discovery of the gene which causes Best disease has the potential to increase our understanding of the pathogenesis of all types of macular degeneration, including the common age-related form.

Endocytosis at the micropore of Toxoplasma gondii.

Ultrastructural studies were undertaken to reexamine the structure and function of the micropore of Toxoplasma gondii. By incubating tachyzoites with the tracer horseradish peroxidase (HRP), we showed for the first time cytochemically that an extracellular tracer was internalized into vacuoles at the micropore. Our morphological observations also demonstrated that the base of the micropore in both tachyzoites and bradyzoites was sometimes covered by a clathrin-like bristle coat.

Three autosomal dominant corneal dystrophies map to chromosome 5q.

The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease-causing gene to chromosome 5q.

A user-friendly Hypercard interface for human linkage analysis.

The availability of a large number of highly informative genetic markers has made human linkage analysis faster and easier to perform. However, current linkage analysis software does not provide an organizational database into which a large body of linkage data can be easily stored and manipulated. This manual entry and editing of linkage data is often time consuming and prone to typing errors.

Corneal endothelial and intraocular pressure changes after phacoemulsification with Amvisc Plus and Viscoat.

A prospective, randomized, observer-marked study was conducted to compare corneal endothelial and intraocular pressure (IOP) changes after cataract surgery with the viscoelastic agents Amvisc Plus and Viscoat. Forty-nine patients (50 eyes) who had uncomplicated phacoemulsification and implantation of a posterior chamber intraocular lens were randomly assigned to either Amvisc Plus (25 eyes) or Viscoat (25 eyes) groups. Surgical technique was rigidly standardized in all cases.

Molecular cloning and deduced amino acid sequences of the gamma-subunits of rat and monkey NAD(+)-isocitrate dehydrogenases.

A 600 bp cDNA fragment encoding part of the gamma-subunit of pig heart NAD(+)-isocitrate dehydrogenase (ICDH gamma) was amplified by PCR using redundant oligonucleotide primers based on partial peptide sequence data [Huang and Colman (1990) Biochemistry 29, 8266-8273]. This PCR fragment was then used as a probe to isolate clones encoding the complete mature forms of the gamma-subunit from rat epididymis and monkey testis cDNA libraries. Comparison of the deduced amino acid sequences of the rat and monkey subunits and the partial sequence of the pig heart enzyme revealed a remarkably high level of sequence identity.

In vivo sucrase-isomaltase and lactase-phlorizin hydrolase turnover in the fed adult rat.

We estimated in vivo turnover rates of sucrase-isomaltase and lactase-phlorizin hydrolase in adult rats. Fed animals received a primed continuous infusion of phenylalanine (300 microCi, 150 mumol Phe/100 g of body weight for 30 s, then 7.5 microCi, 3.

Intracellular degradation and reduced cell-surface expression of sucrase-isomaltase in heat-shocked Caco-2 cells.

To investigate the role of post-translational events in intestinal cell differentiation we have studied the effects of heat shock on processing and cell surface delivery of sucrase-isomaltase (SI), dipeptidylpeptidase IV (DPPIV) and aminopeptidase N (APN) in Caco-2 cells. In cells cultured at 42.5 degrees C there was a rapid decline in sucrase activity, while DPPIV and APN were unaffected over a 3-day period.

Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.

Glaucoma is a significant cause of blindness world wide. There is evidence to suggest that at least a subset of the disease is determined genetically. We studied 37 members of a family affected with an autosomal dominant form of juvenile open angle glaucoma and 22 were found to be affected.

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.

Butterfly-shaped pigment dystrophy of the fovea is an autosomal dominant eye disease characterized by a bilateral accumulation of yellowish or pigmented material at the level of the retinal pigment epithelium. It shares some clinical and histopathologic features with age related macular degeneration which is the most common cause of legal blindness in older patients. We screened affected patients from a three generation family with butterfly dystrophy for mutations in candidate genes.

Analysis of enteropathy induced by tumour necrosis factor alpha.

Tumour necrosis factor (TNF)-alpha has been implicated in the pathogenesis of experimental and clinical enteropathy, but its exact role is unknown. We show here that a single dose of TNF-alpha causes significant small intestinal pathology in normal adult mice, which develops within 15 minutes, persists for up to 48 hours and is enhanced by interferon-gamma (IFN-gamma). The enteropathy consists of villus atrophy and crypt hyperplasia and is therefore similar to that found in immunologically mediated enteropathies such as graft-versus-host reaction (GvHR).

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an inherited eye disease characterized by retinal and iris neovascularization, abnormal retinal pigmentation, anterior chamber and vitreous inflammation, cystoid macular edema, vitreous hemorrhage, and traction retinal detachment. Some of these clinical features are shared by more common, potentially blinding, conditions including diabetic retinopathy, uveitis, and retinitis pigmentosa. Elucidation of the molecular pathogenesis of ADNIV has the potential to provide insight into the mechanisms of these common disorders.

Procollagen II gene mutation in Stickler syndrome.

Four affected members of a family with Stickler syndrome were found to have a single base-pair deletion resulting in a translational frameshift in exon 40 of the procollagen II (COL2A1) gene on chromosome 12. This mutation was not seen in any of five clinically unaffected family members or in any of 15 unrelated control patients. All affected members had distinctly abnormal vitreous syneresis and all had retinal perivascular pigmentation.

Dynamic intraventricular obstruction during dobutamine stress echocardiography. A new observation.

Background: The implications of hypotension occurring during dobutamine stress echocardiography have not been elucidated. We observed in some patients that hyperdynamic left ventricular function developed during dobutamine stress echocardiography and hypothesized that intracavitary obstruction was occurring and might account for hypotension in some patients.

Methods And Results: Fifty-seven consecutive patients undergoing dobutamine stress echocardiography underwent pulsed-wave and continuous-wave Doppler examination of the left ventricular cavity at rest and at peak dobutamine infusion.