A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.

Ichthyosis bullosa of Siemens (IBS; MIM: 146800) is an autosomal dominant disorder of keratinization characterized by epidermolytic hyperkeratosis without erythroderma. The clinical features are less marked than those of bullous congenital ichthyosiform erythroderma with relatively mild hyperkeratosis usually limited to the skin flexures. Mutations in the epithelial cytokeratin 2e (K2e), which is expressed in a differentiation-specific fashion in the upper spinous and granular layers of the epidermis, have been shown to cause IBS.

Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.

Background: A distinctive subtype of epidermolysis bullosa simplex, with the additional feature of mottled pigmentation (EBS-MP), was initially characterized in a Swedish family in 1979, and seven further families have been reported. Features of EBS-MP that are observed in most affected patients include acral blistering early in childhood, mottled pigmentation distributed in a number of sites, focal punctate hyperkeratoses of the palms and soles, and dystrophic, thickened nails. The genetic basis of EBS-MP has been ascribed in five unrelated families to a heterozygous point mutation, P25L, in the non-helical V1 domain of K5.

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. This constellation of clinical signs is unique, but some overlap can be recognized with other ectodermal dysplasia syndromes, for example ectrodactyly--ectodermal dysplasia--cleft lip/palate (EEC; OMIM 604292), limb--mammary syndrome (LMS; OMIM 603543), acro-dermato-ungual-lacrimal-tooth syndrome (ADULT; OMIM 103285) and recessive cleft lip/palate--ectodermal dysplasia (CLPED1; OMIM 225060). We have recently demonstrated that heterozygous mutations in the p63 gene are the major cause of EEC syndrome.

Correction-spontaneous central retinal artery occlusion in hemoglobin SC disease(1).

PURPOSE: To describe a case of spontaneous central retinal artery occlusion in a young man with hemoglobin sickle cell disease.METHOD: Case report.RESULTS: A 31-year-old African-American man with a history of hemoglobin SC (sickle C) disease developed sudden painless loss of vision in the right eye.

Peptide leucine arginine, a potent immunomodulatory peptide isolated and structurally characterized from the skin of the Northern Leopard frog, Rana pipiens.

On the basis of histamine release from rat peritoneal mast cells, an octadecapeptide was isolated from the skin extract of the Northern Leopard frog (Rana pipiens). This peptide was purified to homogeneity using reversed-phase high performance liquid chromatography and found to have the following primary structure by Edman degradation and pyridylethylation: LVRGCWTKSYPPKPCFVR, in which Cys(5) and Cys(15) are disulfide bridged. The peptide was named peptide leucine-arginine (pLR), reflecting the N- and C-terminal residues.

Efficient nonviral transfection of dendritic cells and their use for in vivo immunization.

Immunization with dendritic cells (DCs) transfected with genes encoding tumor-associated antigens (TAAs) is a highly promising approach to cancer immunotherapy. We have developed a system, using complexes of plasmid DNA expression constructs with the cationic peptide CL22, that transfects human monocyte-derived DCs much more efficiently than alternative nonviral agents. After CL22 transfection, DCs expressing antigens stimulated autologous T cells in vitro and elicited primary immune responses in syngeneic mice, in an antigen-specific manner.

High bax expression is a good prognostic indicator in acute myeloid leukaemia.

Most cytotoxic drugs kill cells by instigating the process of apoptosis and it has been suggested that apoptotic markers may provide an indication of tumour chemosensitivity. The aim of this study was to determine if such a relationship exists in acute myeloid leukaemia (AML). The levels of spontaneous apoptosis, bcl-2 and bax were evaluated in 56 newly diagnosed AML patients to determine if they correlated with a response to cytotoxic therapy.

Effect of contralateral disease on duplex measurements of internal carotid artery stenosis.

Background: Duplex ultrasonography is increasingly used as the sole method of imaging before carotid endarterectomy. This study investigated the measured degree of stenosis in the contralateral carotid artery before and after operation.

Methods: Duplex-derived peak systolic velocity (PSV), end-diastolic velocity (EDV) and internal carotid artery/common carotid artery (ICA/CCA) velocity ratios were measured in the contralateral unoperated ICA before 131 consecutive unilateral endarterectomies and compared with preoperative angiographic findings.

Spontaneous central retinal artery occlusion in hemoglobin sickle cell disease.

Purpose: To describe a case of spontaneous central retinal artery occlusion in a young man with hemoglobin sickle cell disease.

Method: Case report.

Results: A 31-year-old African-American man with a history of hemoglobin sickle cell disease developed sudden painless loss of vision in the right eye.

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.

Structural Fruit Coloration in Delarbrea michieana (Araliaceae).

The brilliant blue fruit color of Delarbrea michieana (F. Muell.) F.

The effectiveness of a parenting skills program for parents of middle school students in small communities.

This study provides evidence of the effectiveness of behaviorally based parenting skills classes provided by carefully trained and supervised group leaders who were not mental health clinicians. A program for parents of at-risk middle school students was evaluated in a randomized controlled trial in 8 small Oregon communities. Parents (N = 303) were randomly assigned to immediate treatment or a wait-list condition.

Discrimination of granulocyte colony-stimulating factor isoforms by high-performance capillary electrophoresis.

Granulocyte colony-stimulating factor (G-CSF) is a glycoprotein which acts primarily to stimulate the proliferation, differentiation and activation of committed progenitor cells of the neutrophil-granulocyte lineage into functionally mature neutrophils. The traditional biological assays employed to detect G-CSF are a myeloid bone marrow colony assay, a factor-dependent cell line specific for G-CSF and commercially available immunoassays. However, these methods will not distinguish between glycosylated and non-glycosylated forms of the molecule.

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

Monilethrix is an hereditary hair dystrophy recently shown to be due to mutations in the helix termination motif of two type II (basic) human hair keratin genes, hHb1 and hHb6. It has been suggested that mutation in hHb1 produces a less severe phenotype. We have studied hair keratin genes and clinical features in 18 unrelated pedigrees of monilethrix from Germany, Scotland, Northern Ireland, and Portugal, in 13 of which mutations have not previously been identified.

Infusional 5-fluorouracil can be a pain in the neck: A case for repositioning displaced Hickman lines.

Increasing numbers of patients receive infusional chemotherapy or total parenteral nutrition via Hickman or Grochong lines. Although the insertion of these indwelling catheters is generally performed under radiological guidance and their positions verified by chest radiography, it is still feasible for them to become displaced at a later date. This possibility should be excluded in patients who develop unusual symptoms during the course of their infusional therapy.

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.

Keratins are obligate heterodimer proteins that form the intermediate filament cytoskeleton of all epithelial cells. Keratins are tissue and differentiation specific and are expressed in pairs of types I and II proteins. The spectrum of inherited human keratin diseases has steadily increased since the causative role of mutations in the basal keratinocyte keratins 5 and 14 in epidermolysis bullosa simplex (EBS) was first reported in 1991.

Infection of endovascular stents: an uncommon but important complication.

In this review article, four cases of peripheral endovascular stent infection (including a case presented in this issue of the journal) reported in the medical literature are reported. While the actual incidence of endovascular stent infection is probably low, when it occurs it can have serious consequences. This complication may result in the death of a patient, as seen in two of the case reports.

Randomized trial of radiation for age-related macular degeneration.

Purpose: To assess external beam radiation efficacy for subfoveal neovascularization associated with age-related macular degeneration.

Methods: All patients were evaluated in the same institution. In this prospective trial, 27 eyes (27 patients) with subfoveal neovascularization associated with age-related macular degeneration were randomized to either single fraction radiation (750 centigray) or observation.

Individual recognition in wild bottlenose dolphins: a field test using playback experiments.

We conducted playback experiments with wild bottlenose dolphins, Tursiops truncatus, to determine whether there is sufficient information in their individually distinctive signature whistles for individual recognition. We conducted experiments with members of a resident community of dolphins in waters near Sarasota, Florida, during temporary capture-release projects. We used a paired playback design, wherein the same two whistle sequences were predicted to evoke opposite responses from two different target animals.

A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.

Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis. Previously, we have shown that this disease can be caused by mutations in type I keratin K16 and one mutation has been reported in its type II keratin expression partner, K6a. Mutation analysis for K6a has been hampered by the presence of multiple copies of the K6 gene in the human genome, of which some are expressed and others are pseudogenes.

Increased apoptotic peripheral blood neutrophils in systemic lupus erythematosus: relations with disease activity, antibodies to double stranded DNA, and neutropenia.

Objective: To quantify the percentage of apoptotic peripheral blood neutrophils in systemic lupus erythematosus (SLE) and to determine the relations with disease activity and neutropenia.

Methods: Neutrophil apoptosis in SLE patients (n =50) was assessed by flow cytometry using annexin V binding and fluorescent labelled anti-fas. Rheumatoid arthritis (RA, n =20) and inflammatory bowel disease patients (IBD, n =20) were studied as disease controls.

Visual and anatomic outcomes associated with posterior segment complications after ganciclovir implant procedures in patients with AIDS and cytomegalovirus retinitis.

Purpose: To determine anatomic and visual acuity outcomes of posterior segment complications after ganciclovir implant surgery.

Methods: We reviewed the medical records of 63 patients with acquired immunodeficiency syndrome who had active cytomegalovirus retinitis in 82 eyes and who underwent 110 consecutive ganciclovir implant procedures. Preoperative and postoperative visual acuity, type of postoperative complication, treatment, and lines of visual acuity change were determined.