Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. Fine mapping excluded DFNB53 and subsequently homozygous mutations were identified in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) gene, which was recently shown to be mutated in the "hurry scurry" mouse and in two DFNB67-linked families from Pakistan.

Sex ratio, life-history invariants, and patterns of sex change in a family of protandrous gastropods.

Application of optimality theory to the evolution of life histories has been broadly successful in predicting the conditions favoring sex change, the type of change, and the timing of such changes. The size advantage hypothesis predicts that the optimal size at which an individual should change sex is a function of its size and the size and sex of its potential mates. I collected data on the size, sex, and grouping of individuals of 27 populations of 19 species of the calyptraeids, a family of protandrous marine gastropods that includes Crepidula.

The coding sequence of amyloid-beta precursor protein APP contains a neural-specific promoter element.

The amyloid-beta precursor protein APP is generally accepted to be involved in the pathology of Alzheimer's disease. Since its physiological role is still unclear, we decided to study the function of APP via stable transgenesis in the amphibian Xenopus laevis. However, the application of constructs encoding (mutant) APP fused to the C-terminus of the green fluorescent protein GFP (GFP-APP), and harboring a tissue-specific or an inducible gene promoter did not result in transgene expression of APP in neuronal and neuroendocrine cells.

Life-history invariants with bounded variables cannot be distinguish from data generated by random processes using standard analyses.

A dimensionless approach to the study of life-history evolution has been applied to a wide variety of variables in the search for life-history invariants. This approach usually employs ordinary least squares (OLS) regressions of log-transformed data. In several well-studied combinations of variables the range of values of one parameter is bounded or limited by the value of the other.

The amyloid-beta precursor-like protein APLP2 and its relative APP are differentially regulated during neuroendocrine cell activation.

The amyloid-beta precursor-like protein APLP2 is structurally and functionally related to the amyloid-beta precursor protein APP, the protein generally accepted to be involved in Alzheimer's disease. Since we previously observed that the levels of APP mRNA and protein were up-regulated threefold in the active intermediate pituitary melanotrope cells of black-adapted Xenopus laevis, we now decided to study the regulation of APLP2 in these physiologically inducible neuroendocrine cells. Interestingly, both the mRNA and protein levels of Xenopus APLP2 were similar in the melanotrope cells of black and white frogs.

Biosynthesis and differential processing of two pools of amyloid-beta precursor protein in a physiologically inducible neuroendocrine cell.

The amyloid-beta precursor protein (APP) is linked to Alzheimer's disease through its pathological proteolytic processing in the secretory pathway. Nevertheless, surprisingly little is known about the biosynthesis of endogenous APP. We therefore decided to investigate the intracellular fate of newly synthesized APP in a physiologically inducible neuroendocrine cell, the Xenopus intermediate pituitary melanotrope cell.

Ionic radii for Group 1 halide crystals and ion-pairs.

Internuclear separations calculated from empirical soft-sphere radii for seventeen crystalline Group 1 halides with rock-salt structures and from empirical hovering-sphere radii for fourteen gaseous Group 1 halide ion-pairs agree well with experimental measurements. Two lithium and four fluoride ion-pairs appear to be anomalous. Soft-sphere ionic radii are compared with atomic radii of noble gases.

Lax eyelid syndrome or 'progeria' of eyelid tissues.

Purpose: The lax eyelid syndrome was described by Van den Bosch and Lemij as an uncommon disorder seen in non-obese elderly people and characterised by chronic ocular surface irritation symptoms and a "floppy upper eyelid". The authors present some new features of the lax eyelid syndrome.

Methods: The authors report five patients, belonging to a younger age group, who presented with premature laxity of all the eyelid tissues.

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

Purpose: To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.

Methods: The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC).

Phylogenetic effects, the loss of complex characters, and the evolution of development in calyptraeid gastropods.

Despite considerable theoretical and empirical work on the population genetic effects of mode of development in benthic marine invertebrates, it is unclear what factors generate and maintain interspecific variation in mode of development and few studies have examined such variation in a phylogenetic context. Here I combine data on mode of development with a molecular phylogeny of 72 calyptraeid species to test the following hypotheses about the evolution of mode of development: (1) Is the loss of feeding larvae irreversible? (2) Is there a phylogenetic effect on the evolution of mode of development? (3) Do embryos of direct-developing species lose the structures necessary for larval feeding and swimming and, if so, is the degree of embryonic modification correlated with the genetic distance between species? The results of these analyses suggest that mode of development evolves rapidly and with little phylogenetic inertia. There are three cases of the possible regain of feeding larvae, in all cases from direct development with nurse eggs.

Identification and expression of the first nonmammalian amyloid-beta precursor-like protein APLP2 in the amphibian Xenopus laevis.

The Alzheimer's disease-linked amyloid-beta precursor protein (APP) belongs to a superfamily of proteins, which also comprises the amyloid-beta precursor-like proteins, APLP1 and APLP2. Whereas APP has been identified in both lower and higher vertebrates, thus far, APLP1 and 2 have been characterized only in human and rodents. Here we identify the first nonmammalian APLP2 protein in the South African claw-toed frog Xenopus laevis.

Dollo's law and the re-evolution of shell coiling.

Gastropods have lost the quintessential snail feature, the coiled shell, numerous times in evolution. In many cases these animals have developed a limpet morphology with a cap-shaped shell and a large foot. Limpets thrive in marginal habitats such as hydrothermal vents, the high-energy rocky intertidal areas and fresh water, but they are considered to be evolutionary dead-ends, unable to re-evolve a coiled shell and therefore unable to give rise to the diversity seen among coiled snails.

Phylogenetic relationships among calyptraeid gastropods and their implications for the biogeography of marine speciation.

Although calyptraeid gastropods are not well understood taxonomically, in part because their simple plastic shells are the primary taxonomic character, they provide an ideal system to examine questions about evolution in the marine environment. I conducted a phylogenetic analysis of calyptraeid gastropods using DNA sequence data from mitochondrial cytochrome oxidase I (COI) and 16S genes and the nuclear 28S gene. The resultant phylogeny was used to examine the biogeographic patterns of speciation in the Calyptraeidae.

Integrative approaches to biogeography: patterns and processes on land and in the sea.

At the 2002 SICB meeting in Anaheim, we brought together some of the leaders in terrestrial and marine phylogeography for a day-long symposium. This symposium combined presentations from ten scientists whose question-driven research focuses on testing hypotheses about patterns and processes in biogeography in both vertebrate and invertebrate animals and including marine, terrestrial, and freshwater systems. The papers gathered here cover the breadth of the presentations.

Embryonic velar structure and function of two sibling species of Crepidula with different modes of development.

The structure and function of the embryonic velum of two closely related species of Crepidula with different modes of development are examined. The velum of C. dilatata, a direct developer whose embryos feed on nurse eggs, does not differ substantially from the velum of C.

Development and validation of a nephelometric immunoassay for IgG1 in milk.

A nephelometric immunoassay, with a detection range of 0.3 to 5 g IgG1/l, was (leveloped for the determination of immunoglobulin in bovine milk. The assay exhibited no significant cross-reactivity with alphas1-casein, alphas2-casein, beta-casein, K-casein or beta-lactoglobulin and 39% cross-reactivity with IgG2.

Role of the lower lid retractors in involutional ectropion repair.

AIM. To outline the role of the lower lid retractors in correction of involutional ectropion. METHODS.

Subspecialty adnexal ophthalmological examination using telemedicine.

We studied the clinical outcome of examination of a group of patients with adnexal (eyelid and orbit) conditions. Seventeen patients with adnexal problems were assessed by an ophthalmologist at a distance using telemedicine, and then subsequently by an ophthalmologist in a face-to-face consultation. Measurements such as palpebral aperture, levator muscle function and eyelid skin crease position were recorded.

The effects of mode of development on phylogeography and population structure of North Atlantic Crepidula (Gastropoda: Calyptraeidae).

The mode of development of marine invertebrates is thought to influence levels of population structure and the location of species range endpoints via differences in dispersal ability. To examine these effects, populations of three sympatric clades of sedentary, marine gastropods in the genus Crepidula were sampled along the Atlantic and Gulf coasts of North America. A haplotype tree was constructed for each clade based on 640 bp sequences of mitochondrial cytochrome oxidase c subunit I.

Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94.

Aim: To describe the prevalence of anophthalmia/microphthalmia in babies born in England 1988-94, as well as their overall survival, and the incidence of associated eye and non-eye malformations; to determine the usefulness of different sources of medical and health service information for establishing a retrospective register of anophthalmia/microphthalmia.

Methods: Multiple sources for initial (retrospective) case ascertainment were surveyed, followed by questionnaires to clinicians to establish severity, associated malformations, and aetiology for England, 1988-94. The population surveyed was all births in England for this time period (4,570,350 births).

Glass-ionomer cement: evaluation as an orbital implant.

Background: To assess the potential of a porous glass-ionomer cement (GIC) as an alternative material for spherical orbital implants, the handling, side effects and rates of fibrovascular ingrowth of this material were compared with those of a synthetic hydroxyapatite (HA) implant.

Method: Twenty-one GIC and 8 HA uncovered 14-mm spheres were implanted into the orbits of New Zealand albino rabbits. Postoperative reactions, animal's behaviour, weight increase and socket conditions were monitored.

Split thickness buccal mucous membrane grafts and beta irradiation in the treatment of recurrent pterygium.

Background: Pterygium is a common problem and after surgical removal may recur in up to 80% of cases, depending on the technique of primary excision. Recurrent pterygia can be aggressive and repeated excision may result in severe conjunctival scarring and shortening, resulting in insufficient conjunctiva to perform further grafting and lid surgery. When there is insufficient autologous conjunctiva, mucous membrane must be obtained from other sites.