Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.

Mutations in genes encoding the keratin intermediate filaments expressed in basal cells have been identified in some families with epidermolysis bullosa simplex as the proximate cause of the fragility. We have systematically scanned genomic sequences of one of these keratins, keratin 14, for mutations in patients from 49 apparently independent kindreds using single-strand conformation polymorphism analysis. The ten mutations identified are clustered at three sites--the ends of the helices and the L12 linker region, mutation sites that have been identified in past, more limited studies. Early onset of blistering in these ten families is correlated with more widespread distribution of lesions.

A community-based collaboration to assess and improve medical insurance status and access to health care of Latino children.

OBJECTIVES: Despite eligibility for subsidized insurance, low-income Latino children are at high risk of being medically uninsured. The authors sought to understand and improve access to medical insurance for Latino children living in a California community of predominantly low-income immigrant families. METHODS: During the summer of 1999, trained women from the community conducted interviews in Spanish with 252 randomly selected mothers of 464 children younger than age 19. Mothers provided information about family demographics, children's medical insurance, health care access, and experiences obtaining and maintaining children's insurance. RESULTS: Most children (83.3%) were eligible for subsidized medical insurance (48.4% Medi-Cal eligible; 35.0% Healthy Families eligible). Twenty-eight percent of eligible children were not enrolled. Non-enrolled eligible children were older (median age 7) than enrolled children (median age 4) and more likely to be born outside the U.S. (22.2%) than enrolled children (4.8%). Among children ages 3-18, those not enrolled were less likely to have visited a doctor in the past 12 months (58% compared to 78.7%) and less likely to have a usual source of care (96.3% compared to 99.5%). Mothers of non-enrolled children were more likely than mothers of enrolled children to have less than seven years of education (47.8% compared to 36.4%). Families with non-enrolled children were more likely to report out-of-pocket medical expenses (84.1% compared to 53%). Families with non-enrolled children were more likely to report barriers to the enrollment process, such as problems providing required documents (39.7% compared to 15.1%), problems understanding Spanish forms (19.4% compared to 8.9%), and confusing paperwork (39.7% compared to 24.7%). Most mothers (75.9%) reported that community organizations provided very useful help with children's insurance enrollment. Almost half (48.6%) preferred to receive enrollment assistance from community organizations. Only 43.3% of mothers had heard of the Healthy Families program. CONCLUSIONS: To reach the majority of uninsured Latino children, community-based outreach and insurance application assistance are crucial. Most important, the process of applying for and maintaining coverage in Medi-Cal or Healthy Families must be simplified.