Quality of life in thalassemia: a comparison of SF-36 results from the thalassemia longitudinal cohort to reported literature and the US norms.

Thalassemia is a chronic, inherited blood disorder, which, in its most severe form, causes life-threatening anemia. Advances in treatment have led to increased life expectancy however the need for chronic blood transfusions and chelation therapy remains a significant burden for patients. Our study compared health related quality of life (HRQOL) from the Thalassemia Clinical Research Network's (TCRNs) Thalassemia Longitudinal Cohort (TLC) study to US norms and assessed association with clinical variables. There were 264 patients over age 14 who completed the Medical Outcomes Study 36-Item Short Form Health Survey version 2 (SF36v2) baseline assessment. When compared to US norms, TLC patients had statistically significant (P < 0.05) worse HRQOL on five of the eight subscales (physical functioning, role-physical, general health, social functioning, and role-emotional) and on both summary scales (physical component summary and mental component summary). Women, older patients, and those with more disease complications and side effects from chelation reported lower HRQOL. In general, adolescents and adults with thalassemia report worse HRQOL than the US population, despite contemporary therapy. The SF-36 should become a standard instrument for assessing HRQOL in thalassemia to determine predictors of low HRQOL which may be better addressed by a multidisciplinary team.

Lipohypertrophy: does it matter in daily life? A study using a continuous glucose monitoring system.

AIMS: To use continuous glucose monitoring (CGMS) to compare glucose profiles in people with type 1 diabetes following injection of insulin into an area affected by lipohypertrophy vs. an area not affected by lipohypertrophy. METHODS: Eight patients with type 1 diabetes underwent 72 h of CGMS while following a standardized diet and injecting all insulin either into an area with or without lipohypertrophy. Patients underwent two testing periods in random order, separated by 4 days. On day 1 of each test subjects were admitted for measurement of insulin and plasma glucose levels immediately prior to, and hourly for 4 h following, a standardized lunch. RESULTS: Insulin area under the curve (AUC)(0-4 h) was similar for both test periods; 656; interquartile range (IQR): 518-1755 (normal tissue) vs. 602; IQR: 382-1436 (lipohypertrophic tissue), z = 1.7, p = 0.09. There was also no difference in the median time to maximal insulin concentration (Time(max) 2 h; IQR: 2-3 h; z = 0.6; p = 0.6). There was a 37.5% increase in mean plasma glucose levels following a standardized meal; however this was not significant between sites (AUC(0-4 h)t = -1.7; p = 0.1). Moreover, there was no difference in CGMS profiles (AUC(1-72 h)t = -0.9; p = 0.4) across the 72-h monitoring period. Overall the prevalence of hypoglycaemia (CGMS readings < 4 mmol/l) was similar between injection sites (11.6 vs. 10.6%, p = 0.1). CONCLUSION: The pharmacokinetic and pharmacodynamic effect of injecting into lipohypertrophic tissue is small in comparison to the usual clinical variation observed with insulin injections.

Changing outcome of homozygous alpha-thalassemia: cautious optimism.

Only a few long-term survivors of homozygous alpha-thalassemia, a usually fatal condition, have been reported. The authors present a surviving infant with this disorder and discuss the complications, treatments, and implications of this genetic hemoglobinopathy. The child had no antenatal intervention and has been treated with regular transfusions. She has had normal growth and development and is currently 2.5-years-old. A literature review of survivors with Bart hemoglobinopathy reveals an intense perinatal course and a great prevalence of congenital urogenital and limb defects. Advances in antenatal diagnosis, intrauterine intervention, and postnatal treatments have resulted in extended survival of children with congenital defects that until recently were considered invariably fatal. Transfusion and chelation therapy and bone marrow transplantation provide long-term treatment and potential curative options.

Outreach strategies for Southeast Asian communities: experience, practice, and suggestions for approaching Southeast Asian immigrant and refugee communities to provide thalassemia education and trait testing.

This article outlines general strategies for outreaching to Southeast Asian immigrant and refugee communities with thalassemia education. Because of positive net migration and increased birthrates during the last 15 years, Asian Pacific Islanders are among the fastest growing populations in California. Dr. Fred Lorey of California Newborn Screening shows that 1 of 12 Southeast Asians is a carrier of hemoglobin E, demonstrating a particular need to outreach to these communities. The challenge of educating Southeast Asian populations include language barriers, differences in cultural and/or religious beliefs, geographic location, and unfamiliarity with and/ or mistrust of Western health care systems. In addition, outreach workers must consider the great diversity of ethnicity, language, literacy, and education levels, and degree of acculturation to the US within the Asian/Southeast Asian groups. It is crucial before embarking on any outreach campaign to understand the history and make-up of the target audience, including ethnic minorities and dialects, to translate written materials into appropriate languages or audio formats, and to have a group of trained interpreters for events. Additionally, a continuing education model for the outreach/medical staff is important to maintain robust understanding of these diverse communities. Specific strategies include using visual aids, medical professionals as authority figures, and bicultural high school and college students during presentations. Finally, establishing trust and maintaining a continued presence in communities are the most important aspects of a successful outreach campaign.

Hydroxyurea and sodium phenylbutyrate therapy in thalassemia intermedia.

Hydroxyurea (HU) and sodium phenylbutyrate (SPB) have been shown to increase fetal hemoglobin (Hb F) levels in patients with thalassemia intermedia. The reported effects of these agents in increasing total Hb, however, have been inconsistent and there have been no studies on the combination of these medications. We describe the clinical response, as determined by increases in total Hb and decreased transfusion needs, in five patients with thalassemia intermedia treated with HU alone or in combination with SPB. All of the patients responded with increased levels of Hb F, but the responses in total Hb varied. Of the five patients, two had a marked response in total Hb in excess of 3 g/dl, two responded modestly with an increase in total Hb of 1-2 g/dl, and one did not respond. Prolonged responses were achieved with low doses of HU (3-10 mg/kg/day) and higher doses were associated with mild reversible hematologic or hepatic toxicity and no further increases in Hb. Sodium phenylbutyrate was added to treatment with HU in two patients, but failed to produce an increase in total Hb despite increasing Hb F levels. Of the four patients who responded to HU with an increase in total Hb, all reported symptomatic improvement and three have not required further transfusions. We conclude that low-dose HU therapy in patients with thalassemia intermedia may increase total Hb levels sufficiently to eliminate the need for transfusions. We, therefore, recommend a trial of HU for thalassemia intermedia patients in whom chronic transfusion therapy is being contemplated.

Growing up with congenital heart disease: the dilemmas of adolescents and young adults [see comment].

Advances in diagnosis, medical management and surgical intervention have improved the longevity and quality of life for children with congenital heart disease. Despite this, research studies specifically examining the psychosocial concerns of adolescents and young adults with congenital heart disease are few. To explore the subjective experiences and dilemmas of this population during the transition from adolescence to young adulthood, we interviewed, using a semi-structured protocol, a convenience sample of nine adolescents and young adults. Using analytic procedures inherent in Grounded Theory methodology, seven themes were identified: the dilemma of normality; dilemmas in disclosure; dilemmas in strategies for management of illness; the challenge of social integration versus social isolation; the challenge of dependence versus independence; the challenge of uncertainty; and strategies for coping. An understanding of these experiences by health professionals can be beneficial in helping this clinical population as they grow up and face the challenges of an uncertain, yet promising, future.

The dilemmas of parents of adolescents and young adults with congenital heart disease.

OBJECTIVE: To provide a better understanding of parents' experiences as their children with congenital heart disease mature through adolescence and young adulthood. DESIGN: A qualitative pilot study. SETTING: The physician practices of the pediatric cardiology service of a large university medical center. SUBJECTS: Eight parents of adolescents and young adults with congenital heart disease. INTERVENTION: Each parent was separately interviewed with use of a semistructured interview guide. RESULTS: Our study has identified seven themes--the dilemmas of normality, disclosure dilemmas, the challenge of uncertainty, illness management dilemmas and strategies, social integration versus social isolation, the impact of illness on the family, and coping--with which parents have struggled through-out their adolescent's and young adult's life. It was not possible to determine whether the experiences described by these parents are unique. CONCLUSIONS: Parents experience distress, as outlined in the seven themes. They need assistance to determine what is "normal" for their child and how to monitor their child's health and safety. Further research is needed to develop specific interventions.

Doctors and AIDS.

Just a year ago most authorities considered the chances of patients contracting AIDS from doctors and other healthcare workers a virtual impossibility. But last week a Florida woman who got AIDS from her dentist lay near death, and two Minneapolis physicians admitted they had treated hundreds of patients since being diagnosed with the virus. Although doctors are at far greater risk than patients, the Minneapolis cases renewed the debate over the right of sides to know each other's HIV status.

Ribosomal RNA gene site polymorphism in Bufo terrestris.

Individual specimens of Bufo terrestris were discovered that possessed ribosomal gene locations in addition to those normally found. Every specimen from an island population that was examined had extra sites, whereas fewer individuals from coastal mainland populations and none from inland populations had them. Although the extra ribosomal gene locations probably did not arise through gross structural chromosome rearrangements, their origin remains unclear.

Local radio for development: Haba na haba.

PIP: Since 1986, the broadcast stations of the Liberian Rural Communication Network (LRCN) have included in their programming information about education, health, nutrition, population, agriculture, community development along with news, entertainment, sports and other local programming. The popularity of the LRCN lies in the attention given to local languages and communities, the strength of the network's signal and the sense of mutuality, identification, and believability shared by the listeners and programmers. The network was evaluated through the process of a survey and a follow-up survey. The questionnaires evaluated attitudes and behaviors along with knowledge and information sources. Among the many recommendations and conclusions drawn from the survey, it was suggested that broadcasts be more closely associated with activities of local organizations. In addition, it was noted that in a fairly short amount of time the LRCN has bridged a gap between urban and rural listeners and has established itself as the most popular radio station within its broadcast areas.^ieng