Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.

Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50-70%; however, studies of folate related and other developmental genes in humans have failed to definitively identify a major causal gene for NTD. The aetiology of NTDs remains unknown and both genetic and environmental factors are implicated. We present findings from a microsatellite based screen of 44 multiplex pedigrees ascertained through the NTD Collaborative Group. For the linkage analysis, we defined our phenotype narrowly by considering individuals with a lumbosacral level myelomeningocele as affected, then we expanded the phenotype to include all types of NTDs. Two point parametric analyses were performed using VITESSE and HOMOG. Multipoint parametric and nonparametric analyses were performed using ALLEGRO. Initial results identified chromosomes 7 and 10, both with maximum parametric multipoint lod scores (Mlod) >2.0. Chromosome 7 produced the highest score in the 24 cM interval between D7S3056 and D7S3051 (parametric Mlod 2.45; nonparametric Mlod 1.89). Further investigation demonstrated that results on chromosome 7 were being primarily driven by a single large pedigree (parametric Mlod 2.40). When this family was removed from analysis, chromosome 10 was the most interesting region, with a peak Mlod of 2.25 at D10S1731. Based on mouse human synteny, two candidate genes (Meox2, Twist1) were identified on chromosome 7. A review of public databases revealed three biologically plausible candidates (FGFR2, GFRA1, Pax2) on chromosome 10. The results from this screen provide valuable positional data for prioritisation of candidate gene assessment in future studies of NTDs.

The R.U.B.B.E.R. tool: screening children for latex allergy.

The pediatric nurse practitioner may encounter IgE-mediated allergic reactions to natural latex rubber not only in patients with spina bifida but also in the general pediatric population. The R.U.B.B.E.R. screening tool is a short research-based questionnaire that elicits unrecognized past allergic reactions to latex and identifies children at risk for this condition. Management strategies include patient identification, referral for allergy evaluation, patient and family education about avoiding latex, and design of a latex-safe practice environment.

Latex allergy update: clinical practice and unresolved issues.

Increasing prevalence and severity of allergic reactions to natural latex rubber have prompted a reevaluation of certain routine practices. Many common health care and household devices can cause allergic reactions, ranging from mild rash to fatal anaphylactic shock, in latex-sensitive persons. Research suggests that populations at risk can be identified, and successful prevention modalities can be developed on the basis of an understanding of the routes of exposure. Several unresolved issues and areas of confusion remain, however, regarding design of latex-safe clinical practice. This article updates nurses on current research and clinical practice related to latex allergies.

Latex allergy: collaborative nursing research using a consortium model.

Nursing research, a recognized component of the CNS role, is difficult to develop in practice. Collaborative research is frequently recommended as a way to promote research activity by advanced practice nurses. Although most collaborative nursing research involves cooperation between academic and clinical nurses or within nursing organizations that exist for the purpose of conducting research, a regional nursing consortium can successfully carry out research activities. An investigation into the incidence and nature of latex allergy in children with myelodysplasia grew out of the education, mutual support, and advocacy activities of a regional clinical consortium. This article shares the research process, the obstacles encountered, and the strategies employed to identify, investigate, and use new nursing knowledge.

Latex allergy in patients with myelodysplasia and in health care providers: a double jeopardy.

Latex-associated allergic reactions have been increasingly reported since first recognized as a potential problem. Allergic reactions are discussed, nonlatex products suggested, and preventative efforts outlined.

Latex allergy in children with myelodysplasia: a survey of Shriners hospitals.

We surveyed the incidence of recognized latex sensitivity in myelodysplasia patients in 16 Shriners Hospitals. The percentage of involved patients ranged from 0 to 22% (mean 5%). Twenty-two children had a significant anaphylactic reaction. We provide recommendations for preoperative prophylaxis and sources of listings of latex and latex-free hospital products and home products.

Children at risk: latex allergy and spina bifida.

A collaborative study conducted by nurse coordinators at five centers for children with spina bifida (myelodysplasia) identifies the increased incidence of allergies to latex products--gloves, balloons, and catheters--in this population. Reports from 185 families or adult patients with spina bifida on a questionnaire developed by the nurse coordinators describe the sample characteristics and history to allergies. Statistical analysis concludes that children with spina bifida have a higher incidence of allergies to latex products at 20.4% than the controls at 1.1%. Patient age and the presence of shunted hydrocephalus also correlated positively with latex allergy. The increased risk in this population for latex allergy and the life-threatening reactions (anaphylaxis) have implications for patient, family, and professional education.

Parental needs assessment: a design for clinical nurse specialist practice.

Parents of children with orthopedic illness or disability were asked to identify their needs and their children's needs for education and support. Their responses were used to shape the clinical nurse specialist's practice. Information about the child's diagnosis and its effect on growth, development, and sexuality were the areas of greatest needs identified by parents in this study. Incorporation of these perceived needs into practice is described.

One of the gang: sexual development of adolescents with physical disabilities.

The social implications of disability may affect the sexual development of adolescents with physical disabilities. Using the Peer Similarity Scale to measure the perceived similarity to or difference from nondisabled peers, this study surveyed adolescents with physical disabilities about their perceptions of their sexual development. The data indicate that while, in general, the adolescents see themselves as similar to nondisabled peers, adolescents with certain diagnoses may be more likely to anticipate difficulty in achieving desired adult sexual relationships and future goals.