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Biomedical subjects

Jaime L Frías

Publications and source records attributed to Jaime L Frías.

7 recordsLinked to original sources

Promoting pre-conceptional use of folic acid to Hispanic women: a social marketing approach.

OBJECTIVE: To develop a culturally appropriate communication initiative in an effort to promote the use of pre-conceptional folic acid among Hispanic women of childbearing age. The materials were designed to communicate information about the risks of neural tube defects and the value of folic acid supplementation before conception. METHODS: The initiative was developed using a social marketing approach. A series of focus groups were conducted with Hispanic women, particularly Mexican and Mexican-American women, to gain an understanding of their knowledge, attitudes, and behaviors regarding birth defects and folic acid. Additionally focus groups assessed women's preferences for existing folic acid education materials. Qualitative analysis of coded transcripts revealed key themes which were incorporated into a multi-media initiative. RESULTS: Critical themes of the research highlighted the need to include the role of partners and a sense of family in the promotions aimed at these groups. Another key component was the need to dispel myths which act as barriers to pre-conceptional folic acid use. Other important elements included in the media products were the need for Spanish and English versions, an explanation of neural tube defects, and a reference to the cost of the supplements. CONCLUSION: The final products of the initiative included Spanish and English versions of a brochure, photo-novella, and radio public service announcement. Pre-testing results showed women understood the message, thought the message was for women like them, and expected to begin taking a folic acid supplement. Results of the overall evaluation of the initiative are on-going.

Adolescent↗

A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?

We report two siblings, a boy and a girl, with a constellation of anomalies that overlap the phenotypes of Kabuki and Malpuech syndromes. Both patients had a facial appearance suggestive of Kabuki syndrome, sagittal vertebral clefts, and short fifth fingers. In addition, the girl had brachydactyly of the index finger, and the boy, cleft lip and palate, mild postnatal growth deficiency, coarctation of the aorta, ventricular septal defect, patent ductus arteriosus, and a caudal appendage. The fact that this pattern of anomaly occurred in siblings, together with the presence of sparse eyebrows medially, rather than laterally, in both patients and a caudal appendage in the boy, militates against the diagnosis of Kabuki syndrome. Furthermore, the presence of a caudal appendage in a child with cleft lip and cleft palate and renal abnormalities is suggestive of Malpuech syndrome. The normal growth pattern and psychomotor development observed in both children, however, is inconsistent with this diagnosis, although they may represent a milder end of the phenotypic spectrum for Malpuech syndrome. Alternatively, we conclude that the condition may represent a distinct multiple congenital anomaly (MCA) syndrome. The occurrence of a pattern of MCA in two siblings with phenotypically normal parents and normal cytogenetic studies, including high-resolution banding and subtelomeric probes, points toward an autosomal recessive mode of inheritance. However, germinal mosaicism and other types of non-traditional inheritance, such as a defect in genomic imprinting or uniparental disomy, should also be considered.

Abnormalities, Multiple↗

Florida health care providers' knowledge of folic acid for the prevention of neural tube defects.

OBJECTIVES: The purpose of this study was to determine the impact of an educational program on the knowledge and practice behavior of health care providers regarding folic acid use for the prevention of neural tube defects. METHODS: A survey was mailed to selected Florida health care providers to determine baseline knowledge and practice behavior. After a statewide educational program, another mail survey was sent to the same groups of providers to determine the effect of the campaign. RESULTS: Comparison between the two surveys showed a significant increase in knowledge and in the percentage of health care providers who recommended the periconceptional use of folic acid for the prevention of neural tube defects. Providers graduating in 1992 or later were more likely than those graduating before 1992 to have the appropriate knowledge about folic acid use but were less likely to recommend it to their patients. CONCLUSIONS: Significant gains were made in increasing knowledge and changing practice behavior among selected Florida health care providers. Regardless of the magnitude of these gains, our data show that some health care providers who have regular contact with women of childbearing age still do not know the recommended doses of folic acid or do not recommend its use. This points toward the need for continued education as well as efforts to modify provider behavior.

Adult↗

Treatment of oralfacial clefts by state-affiliated craniofacial centers and cleft palate clinics.

BACKGROUND: Oralfacial clefting (OFC) disorders require expedient evaluation and treatment to obtain optimal outcome. In Florida, there is a statewide program targeted to the care of infants with OFC. We therefore sought to determine statewide referral and treatment patterns of children born with OFC identified through the Florida Birth Defects Registry. METHODS: Using data for 1996 and 1997 and ICD-9 CM codes 749.00 - 749.25, we identified 539 OFC cases. All cases were matched with the evaluation and treatment records of the statewide Children's Medical Services' (CMS) craniofacial centers (CFC) and cleft palate clinics (CPC). The likelihood of CMS contact was examined with respect to demographic and other descriptive data characterizing the OFC cases. RESULTS: 42% (227/539) of OFC cases were evaluated at or known to the CFC or CPC. Children with cleft lip and palate were more likely to have had contact than were those with cleft lip or cleft palate alone. The CFC and CPC programs were most likely to provide evaluation between age 2 months and 3 years. Of 12 counties with occurrences of more than 15 OFC cases, 2 had significantly lower contact rates, suggesting possible problems in accessibility or reporting of services. CONCLUSIONS: Statewide Birth Defect Registry data can be used in collaboration with statewide treatment programs to gain insight into referral patterns and provision of services. Factors influencing access to services and quality of care, though not addressed by this study, could be prospectively incorporated into such a project.

Abnormalities, Multiple↗

Health supervision for children with Turner syndrome.

This report is designed to assist the pediatrician in caring for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotyping. The report is meant to serve as a supplement to the American Academy of Pediatrics' "Recommendations for Preventive Pediatric Care" and emphasizes the importance of continuity of care and the need to avoid its fragmentation by ensuring a medical home for every girl with Turner syndrome. The pediatrician's first contact with a child with Turner syndrome may occur during infancy or childhood. This report also discusses interactions with expectant parents who have been given the prenatal diagnosis of Turner syndrome and have been referred for advice.

Adolescent↗