Biomedical subjects

Celia I Kaye

Publications and source records attributed to Celia I Kaye.

7 recordsLinked to original sources

PubMed2006

Update of newborn screening and therapy for congenital hypothyroidism.

Unrecognized congenital hypothyroidism leads to mental retardation. Newborn screening and thyroid therapy started within 2 weeks of age can normalize cognitive development. The primary thyroid-stimulating hormone screening has become standard in many parts of the world. However, newborn thyroid screening is not yet universal in some countries. Initial dosage of 10 to 15 microg/kg levothyroxine is recommended. The goals of thyroid hormone therapy should be to maintain frequent evaluations of total thyroxine or free thyroxine in the upper half of the reference range during the first 3 years of life and to normalize the serum thyroid-stimulating hormone concentration to ensure optimal thyroid hormone dosage and compliance. Improvements in screening and therapy have led to improved developmental outcomes in adults with congenital hypothyroidism who are now in their 20s and 30s. Thyroid hormone regimens used today are more aggressive in targeting early correction of thyroid-stimulating hormone than were those used 20 or even 10 years ago. Thus, newborn infants with congenital hypothyroidism today may have an even better intellectual and neurologic prognosis. Efforts are ongoing to establish the optimal therapy that leads to maximum potential for normal development for infants with congenital hypothyroidism. Remaining controversy centers on infants whose abnormality in neonatal thyroid function is transient or mild and on optimal care of very low birth weight or preterm infants. Of note, thyroid-stimulating hormone is not elevated in central hypothyroidism. An algorithm is proposed for diagnosis and management. Physicians must not relinquish their clinical judgment and experience in the face of normal newborn thyroid test results. Hypothyroidism can be acquired after the newborn screening. When clinical symptoms and signs suggest hypothyroidism, regardless of newborn screening results, serum free thyroxine and thyroid-stimulating hormone determinations should be performed.

Congenital Hypothyroidism↗

PubMed2006

Introduction to the newborn screening fact sheets.

Newborn screening fact sheets were last revised in 1996 by the Committee on Genetics of the American Academy of Pediatrics. These fact sheets have been revised again because of advances in the field, including technologic innovations such as tandem mass spectrometry, as well as greater appreciation of ethical issues such as informed consent. The fact sheets provide information to assist pediatricians and other professionals who care for children in performing their essential role within the newborn screening public health system. The newborn screening system consists of 5 parts: (1) newborn testing; (2) follow-up of abnormal screening results to facilitate timely diagnostic testing and management; (3) diagnostic testing; (4) disease management, which requires coordination with the medical home and genetic counseling; and (5) continuous evaluation and improvement of the newborn screening system. The following disorders are reviewed in the newborn screening fact sheets (which are available at www.pediatrics.org/cgi/content/full/118/3/e934): biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia,homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies,and tyrosinemia.

DNA↗

PubMed2006

Newborn screening fact sheets.

Newborn screening fact sheets were last revised in 1996 by the American Academy of Pediatrics Committee on Genetics. This revision was prompted by advances in the field since 1996, including technologic innovations, as well as greater appreciation of ethical issues such as those surrounding informed consent. The following disorders are discussed in this revision of the newborn screening fact sheets: biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia. A series of topics related to newborn screening is discussed in a companion publication to this electronic publication of the fact sheets (available at: www.pediatrics.org/cgi/content/full/118/3/1304). These topics are newborn screening as a public health system; factors contributing to the need for review of the newborn screening system; informed consent; tandem mass spectrometry; DNA analysis in newborn screening; status of newborn screening in the United States; and the effect of sample timing, preterm birth, diet, transfusion, and total parenteral nutrition on newborn screening results.

Blood Transfusion↗

PubMed2005

Growth hormone benefits children with 18q deletions.

Most individuals with constitutional deletions of chromosome 18q have developmental delays, dysmyelination of the brain, and growth failure due to growth hormone deficiency. We monitored the effects of growth hormone treatment by evaluating 23 individuals for changes in growth, nonverbal intelligence quotient (nIQ), and quantitative brain MRI changes. Over an average of 37 months, the treated group of 13 children had an average nIQ increase of 17 points, an increase in height standard deviation score of 1.7, and significant change in T1 relaxation times in the caudate and frontal white matter. Cognitive changes of this magnitude are clinically significant and are anticipated to have an effect on the long-term outcomes for the treated individuals.

Abnormalities, Multiple↗

PubMed2005

Implementing a simpler approach to mission-based planning in a medical school.

Changes in the education, research, and health care environments have had a major impact on the way in which medical schools fulfill their missions, and mission-based management approaches have been suggested to link the financial information of mission costs and revenues with measures of mission activity and productivity. The authors describe a simpler system, termed Mission-Aligned Planning (MAP), and its development and implementation, during fiscal years 2002 and 2003, at the School of Medicine at the University of Texas Health Science Center at San Antonio, Texas. The MAP system merges financial measures and activity measures to allow a broad understanding of the mission activities, to facilitate strategic planning at the school and departmental levels. During the two fiscal years mentioned above, faculty of the school of medicine reported their annual hours spent in the four missions of teaching, research, clinical care, and administration and service in a survey designed by the faculty. A financial profit or loss in each mission was determined for each department by allocation of all departmental expenses and revenues to each mission. Faculty expenses (and related expenses) were allocated to the missions based on the percentage of faculty effort in each mission. This information was correlated with objective measures of mission activities. The assessment of activity allowed a better understanding of the real costs of mission activities by linking salary costs, assumed to be related to faculty time, to the missions. This was a basis for strategic planning and for allocation of institutional resources.

Academic Medical Centers↗

PubMed2002

Folic acid awareness and use among women with a history of a neural tube defect pregnancy--Texas, 2000-2001.

The use of folic acid is a critical component in preventing birth defects. Health-care providers should take advantage of all health-care visits to counsel not only women at high risk (i.e., those with a history of having an infant with a neural tube defect [NTD]) but all women regarding the importance of folic acid use. A study conducted in Texas confirmed that white and Hispanic mothers were equally likely to recall receiving postpartum advice to use folic acid; however, Hispanic women were much less likely to use folic acid, compared with white women. This report covers data from May 2000 through November 2001. A study was conducted in Texas to determine whether women at high risk recall and follow recommendations to use folic acid. The study included 195 women at high risk and 223 control mothers who gave birth to infants without birth defects. These women participated in a telephone interview for a population-based case-control study of NTDs. Approximately 56.4% (110 of 195) of mothers who had infants affected by an NTD recalled receiving postpartum advice to use folic acid, compared with 25.6% (57 of 223) of control mothers (p < 0.01). Among nonpregnant case mothers, 54 (32.7%) of 165 reported regular use of supplements containing folic acid, and 53 (25.2%) of 210 nonpregnant control mothers reported this behavior (p = 0.11). Among case mothers, use of folic acid was significantly higher for whites (64.7%) versus Hispanics (16.5%) (p < 0.001); for women with some college education (57.1%) versus no college education (20.2%; p < 0.001); for women who were trying to get pregnant (66.7%) versus those using birth control (38.3%) or reporting using no contraceptive method (18.8%) (p = 0.001); and for women who reported receiving advice to use folic acid (40.9%) versus those who did not (22.2%; p = 0.01). Findings from this study support the need to implement NTD recurrence prevention activities in Texas. Data also identify a need for educational strategies in Texas that target Hispanic women at high risk, especially those who primarily speak Spanish. Further efforts should be made to determine why Hispanic women have low rates of folic acid use (e.g., the cost of vitamins and language and cultural barriers). On the basis of a review of research and current practice, recommendations developed by the Public Health Service include 1) women at risk for a recurrent NTD-affected pregnancy should take 0.4 mg of folic acidper day; and 2) if a woman at high risk is planning a pregnancy, she should consult her physician regarding taking the higher dose of 4.0 mg per day.

Adult↗

PubMed2002

Perceptions of Mexican American clients receiving genetic services in South Texas.

OBJECTIVES: The objectives of this study were to assess the perceptions among medically indigent Mexican American clients in South Texas receiving genetic services, and the effects of these perceptions on the utilization of genetic services. METHODS: Using a qualitative ethnographic approach, 16 caretakers of children with genetic conditions and 7 prenatal clients were interviewed. Interview data were analyzed using the NUD*IST 4 computer program. RESULTS: Clients reported challenges with understanding and utilizing genetic services due to language and communication barriers, poverty, cultural differences, and system issues. CONCLUSION: Client perceptions of genetic services were influenced by experiences with other biomedical providers and traditional healers, and by anxieties precipitated by unfamiliar concepts and approaches to medical care. Recommendations are made to improve provision of genetic services.

Journal Article↗