SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

BACKGROUND: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA maps to chromosome 17q25.3 where mutations in SEPT9, encoding the septin-9 protein, have been identified. OBJECTIVE: To determine the frequency and type of mutations in the SEPT9 gene in a new cohort of 42 unrelated HNA pedigrees. METHODS: DNA sequencing of all exons and intron-exon boundaries for SEPT9 was carried out in an affected individual in each pedigree from our HNA cohort. Genotyping using microsatellite markers spanning the SEPT9 gene was also used to identify pedigrees with a previously reported founder haplotype. RESULTS: Two missense mutations were found: c.262C>T (p.Arg88Trp) in seven HNA pedigrees and c.278C>T (p.Ser93Phe) in one HNA pedigree. Sequencing of other known exons in SEPT9 detected no additional disease-associated mutations. A founder haplotype, without defined mutations in SEPT9, was present in seven pedigrees. CONCLUSIONS: We provide further evidence that mutation of the SEPT9 gene is the molecular basis of some cases of hereditary neuralgic amyotrophy (HNA). DNA sequencing of SEPT9 demonstrates a restricted set of mutations in this cohort of HNA pedigrees. Nonetheless, sequence analysis will have an important role in mutation detection in HNA. Additional techniques will be required to find SEPT9 mutations in an HNA founder haplotype and other pedigrees.

Usage of megestrol acetate in the treatment of anorexia-cachexia syndrome in the elderly.

UNLABELLED: The aim of this review is to assess the efficacy and safety of megestrol acetate (MA) in geriatric cachexia. The paper presented here reviews a previously published study of MA use in 69 patients in a randomized double blind placebo-controlled trial. This paper will also address the underlying pathogenesis of cachexia (specifically, the role of cytokines) along with the use of MA, its mechanism of action and its side effects. OBJECTIVE: To compare the effects of MA oral suspension (O.S.), 800 mg/day, versus placebo on weight in geriatric nursing home patients with weight loss or low body weight. DESIGN: Twelve weeks, randomized, double-blind, placebo-controlled trial with a 13-week follow-up period. PATIENTS: Northport VAMC Nursing home patients with weight loss of * 5% of usual body weight over the past 3 months, or body weight 20% below their ideal body weight. INTERVENTIONS: Patients were randomly assigned to receive placebo or MA 800 mg/d for 12 weeks and were then followed for 13 weeks off treatment and mortality 4 years post treatment. MEASUREMENTS: Primary outcome- weight and appetite change. Secondary outcome-sense of well being, enjoyment of life, change in depression scale, laboratory nutrition parameters, energy intake counts, body composition, and adverse events. RESULTS: At 12 weeks there were no significant differences in weight gain between treatment groups, while MA-treated patients reported significantly greater improvement in appetite, enjoyment of life, and well being. At week 25 (3 months after treatment), 61.9% of MA-treated patients had gained * 1.82 kg (4 lbs) compared to 21.7% of placebo patients. There was no difference in survival between MA and placebo groups. Considering possible confounders, higher initial IL-6, initial TNFR-p75 levels, and final neutrophil percentage were associated with elevated mortality, whereas higher initial pre-albumin, initial albumin, final pre-albumin, final albumin and final weight gain were associated with decreased death.

A public health nursing model.

Public health nurses are in a strategic position to maintain, promote, and protect the health of populations both now and in the future. In the changing health care environment of the 1990s, defining the expanding and evolving role of public health nursing assists in the effective utilization of public health nurses. During a time when the health care environment is emphasizing the protection and promotion of health, access to health services, and prevention of illness, it is necessary for public health nurses to be in the forefront in the changing focus to primary prevention. Therefore, a model for public health nursing is proposed to provide a framework for defining public health nursing roles and practice. A flowering tree is one symbol of public health nursing. The tree consists of seven parts symbolizing nine public health nursing concepts. This model is proposed to articulate clearly the capacity of public health nursing within today's ever-changing environment and to provide a framework for public health nursing theory, public health nursing practice, policy development, and public health research.

Variability of laboratory coat resistance to blood strikethrough.

Protection from contamination by potentially infectious fluids is an increasingly important aspect of hospital safety programs. Technical personnel in clinical laboratories may handle numerous samples of human blood and other fluids daily, and to protect themselves against exposure to bloodborne pathogens they routinely wear laboratory coats. We studied the effectiveness of six disposable (polypropylene; either spun-bond or spun-bond/melt-blown/spun-bond construction) and four reusable (polyester-cotton) laboratory coats in preventing blood passage. Fabrics (1018 samples) were tested at six time durations (1 s-5 min) and five pressures [1.7-13.8 kPa (0.25-2.0 psi)]. A standard spray test used to evaluate resistance to wetting showed that reusable coats were less repellent than disposables (P < 0.05). Pressure testing showed that reusable and spun-bond coats allowed greater blood passage than the spun-bond/melt-blown/spun-bond. Laboratory coats should be chosen that have sufficient resistance to blood or other body fluid passage for the task performed and for the period of time used.

Isolation gowns: a false sense of security?

BACKGROUND: Isolation gowns have traditionally been used in health care situations to protect against microbial contamination. There is now concern over protection of the health care worker from contamination by patients' blood and body fluids. We quantitatively determined the effectiveness of commercially available isolation gowns against human blood leakage or strike through. METHODS: More than 1200 samples of 11 types of disposable gown and one type of reusable gown (new and washed 40 and 80 times) were tested at five different pressures (0.25 to 2 psi) and six durations (1 second to 2 minutes) by means of an apparatus designed to simulate pressures generated during gown usage. RESULTS: In all studied conditions, testing showed significant differences (p less than 0.0001) in the amount of strike through allowed by the gowns and demonstrated important differences in the gowns' protective capabilities. CONCLUSION: Although traditional thought assumes that isolation gowns protect the wearer from contamination, our data show this belief may provide a false sense of security.