Exploring the use of an alginate dressing for diabetic foot ulcers.

Few studies have investigated the use of dressings on patients with diabetic foot ulceration. This paper reports the results of a non-comparative, two-centre study investigating the performance characteristics of SeaSorb dressing in patients with this condition. This was an exploratory study to determine the potential use of this dressing, and not a large randomised control trial.

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we provide compelling evidence that KID is caused by heterozygous missense mutations in the connexin-26 gene, GJB2. In each of 10 patients with KID, we identified a point mutation leading to substitution of conserved residues in the cytoplasmic amino terminus or first extracellular domain of Cx26.

Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome.

Objective: Evaluation of the auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome, a rare genodermatosis characterized by follicular hyperkeratosis, vascularizing keratitis, and congenital hearing loss.

Study Design: Five individuals with sporadic KID syndrome were evaluated in the outpatient audiology clinic at the Warren Grant Magnuson Clinical Center of the National Institutes of Health.

Methods: Audiologic examinations included pure-tone audiometry, speech audiometry, and middle ear immittance testing.

Recognizing the feet as being at risk from pressure damage.

This article reports the findings of a survey and an audit undertaken to investigate the provision of foot support in a university teaching hospital. Phase I surveyed strategies employed to support feet and phase II audited the use of the Repose Foot Protector, manufactured by Frontier Therapeutics, specifically designed to provide pressure support for the feet. Patients with reduced mobility, nursed out of bed in a chair, have been highlighted as a group potentially at risk of tissue damage to the heels.

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

The Comèl-Netherton syndrome is an autosomal recessive multisystemic disorder characterized by localized or generalized congenital ichthyosis, hair shaft abnormalities, immune deficiency, and markedly elevated IgE levels. Life-threatening complications during infancy include temperature and electrolyte imbalance, recurrent infections, and failure to thrive. To study the clinical presentations of the Comèl-Netherton syndrome and its molecular cause, we ascertained 19 unrelated families of various ethnic backgrounds.

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a storage pool deficiency due to an absence of platelet dense bodies. Lysosomal ceroid lipofuscinosis, pulmonary fibrosis and granulomatous colitis are occasional manifestations of the disease. HPS occurs with a frequency of one in 1800 in north-west Puerto Rico due to a founder effect.

The morbid anatomy of the dermatologic genome: an update for the third millennium.

Background: Much progress has been made in recent years in the identification of genes underlying many hereditary skin diseases.

Objective: To provide an update on the status of the identification of genes involved in hereditary skin disorders and to compare the current standing with that in the last decade.

Methods: A review of the literature is presented here in a series of lists describing the chromosomal location, specific gene, clinical relevance, and availability of molecular-based genetic tests for each genodermatosis.

Genealogy construction in a historically isolated population: application to genetic studies of rheumatoid arthritis in the Pima Indian.

Purpose: Due to the characteristics of complex traits, many traits may not be amenable to traditional epidemiologic methods. We illustrate an approach that defines an isolated population as the "unit" for carrying out studies of complex disease. We provide an example using the Pima Indians, a relatively isolated population, in which the incidence and prevalence of Type 2 diabetes, gallbladder disease, and rheumatoid arthritis (RA) are significantly increased compared with the general U.

Genetic basis of Darier-White disease: bad pumps cause bumps.

Background: Darier-White disease, or keratosis follicularis, is a dominantly inherited disorder characterized by brown hyperkeratotic papules and plaques in a seborrheic distribution. The genetic basis of this disorder has recently been elucidated.

Objective: In this article, we review the history of the search for the genetic basis of Darier-White disease.

Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.

Darier disease (DD) is with a frequency of up to 1 in 36,000 a relatively common genodermatosis with autosomal dominant inheritance and late age of onset. The progressive skin manifestations are variable, but often debilitating and disfiguring, and may be associated with a wide range of neuropsychiatric problems, such as epilepsy and depression. On histology, acantholysis and dyskeratosis are prominent findings, implicating impaired functionality of desmosomes.

A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism.

We found a common biallelic polymorphism (PAT) in the xeroderma pigmentosum complementation group C (XPC) DNA repair gene consisting of an insertion of 83 bases of A and T [poly(AT)] and a 5 base deletion within intron 9. We developed a PCR assay to resolve the XPC PAT+ and PAT- alleles and found that the PAT+ allele frequency was 0.44 in 156 cancer-free donors from the Johns Hopkins School of Public Health, 0.

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.

Lamellar ichthyosis (LI, OMIM no. 242300) is a severe autosomal recessive genodermatosis with an estimated prevalence of 1:200,000. LI represents one end of the spectrum of congenital recessive ichthyosis (CRI).

Phase 1 studies: the development of new dressing technology.

This article describes the use of phase 1 studies in the research process when developing new dressing technology. A phase 1 study refers to the first time that humans are exposed to a new therapy. In general, participation is open to healthy volunteers only.

Clinical evaluation of a new pressure-relieving mattress.

In introducing a new mattress into practice it is important to evaluate its performance from both the patient's and nurse's perspective. A total of 20 patients admitted to the integrated medical unit were recruited and nursed on a new pressure-relieving mattress offering two modes of pressure relief (Duo). All patients had been recently admitted to hospital and were considered to be 'at very high risk' of developing a pressure ulcer, with an initial Waterlow score > 20.

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.

Intercellular channels in skin are a complex and functionally diverse system formed by at least eight connexins (Cx). Our recent molecular studies implicating Cx defects in inherited skin disorders emphasize the critical role of this signaling pathway in epidermal differentiation. Erythrokeratodermia variabilis (EKV) is an autosomal dominant genodermatosis with a striking phenotype characterized by the independent occurrence of transient localized erythema and hyperkeratosis.

Mutation screening using automated bidirectional dideoxy fingerprinting.

The need continues to grow for mutation identification in genetic disease in both research and clinical settings. We have developed a rapid nonradioactive bidirectional dideoxy fingerprint mutation screening procedure that is performed using an automated DNA analyzer. This technique features standardized primers and easily interpreted results from separate, but simultaneously collected, images for coding and noncoding strands.

Comparing hydrocolloid dressings in management of exuding wounds.

Hydrocolloid dressings have been widely used since the late 1970s. This article compares two hydrocolloid dressings--3M Tegasorb dressing and ConvaTec's Granuflex (E)--and highlights their similarities and differences when used in the clinical situation. Both hydrocolloids were reported to perform favourably by users in most situations.

Of hairless mice and men: the genetic basis of congenital alopecia universalis/congenital atrichia.

Background: Mouse models of human diseases help identify gene defects.

Objective: The methods of homozygosity mapping and mouse/human homology to identify genes are reviewed. The genotype/phenotype correlation in two clinical entities with mutations in the human hairless gene are discussed.

The dynamin-related GTPase Dnm1 regulates mitochondrial fission in yeast.

The dynamin-related GTPase Dnm1 controls mitochondrial morphology in yeast. Here we show that dnm1 mutations convert the mitochondrial compartment into a planar 'net' of interconnected tubules. We propose that this net morphology results from a defect in mitochondrial fission.

Challenging the pressure sore paradigm.

This study determines the effectiveness of a new low-unit-cost support system in patients at very high risk of developing pressure sores. In a prospective randomised controlled trial, a low-pressure inflatable mattress and cushion system (Repose) was compared to a dynamic support mattress (Nimbus II) used in conjunction with an alternating-pressure cushion (Alpha TranCell) in 80 patients with fractured neck of femur and high scores on a pressure sore risk assessment scale. All patients received best standard care, including turning at regular intervals.

Association of HLA alleles and clinical features in patients with synovitis of recent onset.

Objective: To determine how HLA alleles are associated with the clinical disease patterns of patients with synovitis of recent onset.

Methods: The HLA alleles A, B, C, DRbeta1, and DQbeta1 were determined in a cohort of 211 patients (mean age 42 years, 64% female, 79% white) with recent-onset synovitis in 1 or more peripheral joints. At a mean disease duration of 33 weeks, 98 patients (46%) met the American College of Rheumatology (ACR) criteria for rheumatoid arthritis (RA), 38 (18%) met the European Spondylarthropathy Study Group criteria for spondylarthropathy (SpA), and 75 (36%) were classified as having undifferentiated arthropathy (UA).