De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia

We have identified and characterized a Scottish individual with alpha thalassaemia, resulting from a de novo 48 kilobase (kb) deletion from the telomeric flanking region of the alpha globin cluster which occurred as a result of recombination between two misaligned repetitive elements that normally lie approximately 83 kb and 131 kb from the 16p telomere. The deletion removes two previously described putative regulatory elements (HS-40 and HS-33) but leaves two other elements (HS-10 and HS-8) intact. Analysis of this deletion, together with eight other published deletions of the telomeric region, showed that they all severely downregulated alpha globin expression. Together they defined a 20.4-kb region of the human alpha cluster, which contains all of the positive cis-acting elements required to regulate alpha globin expression. Comparative analysis of this region with the corresponding segment of the mouse alpha globin cluster demonstrated conserved non-coding sequences corresponding to the putative regulatory elements HS-40 and HS-33. Although the role of HS-40 as an enhancer of alpha globin expression is fully established, these observations suggest that the role of HS-33 and other sequences in this region should be more fully investigated in the context of the natural human and mouse alpha globin loci.     

Comparative academic performance of medical students in rural and urban clinical settings

OBJECTIVE: To determine whether the academic performance of medical students learning in rural settings differs from those learning in urban settings. DESIGN: Comparison of results of assessment for 2 full cohorts and 1 part cohort of medical students learning in rural and urban settings in 2002 (209 students), 2003 (226 students) and 2004 (220 students), including results for each specialist rotation in the 3rd year and end-of-year examinations in the 2nd and 4th years. SETTING: University of Queensland School of Medicine, Brisbane. Students spent the whole 3rd year (of a 4-year graduate entry programme) conducting 5 specialist 8-week rotations in either the rural clinical division (rural students) or in Brisbane (urban students), all following the same curriculum and taking the same examinations. RESULTS: For the 2002 cohort there were no statistically significant differences in academic performance between rural and urban students. For the 2003 cohort the only significant difference was a higher score for rural students in the end of the 4th-year clinical skills examination (65.7 versus 62.3%, P = 0.025). For the 2004 cohort, rural students scored higher in the 3rd-year mental health rotation (79.3 versus 76.2%, P = 0.038) and lower in the medicine rotation (65.5 versus 68.6%, P = 0.037). CONCLUSION: Academic performance among students studying in rural and urban settings is comparable.     

Diabetes self-management education program for Medicaid recipients: a continuous quality improvement process

PURPOSE: Diabetes self-management education (DSME) is the cornerstone in effective management of diabetes. The continuous quality improvement process was used to identify the problem, collect and analyze data, and develop and implement a DSME program for Medicaid recipients, and subsequently, the program was evaluated to assess its effectiveness. METHODS: A DSME program consisting of a 1-hour initial assessment of individual needs followed by 12 hours of group education on nutrition and self-management was provided to 212 Arkansas Medicaid recipients over 1 year. Key clinical measures were assessed at the end of the period. RESULTS: Over 1 year, mean HbA1c declined by 0.45% among the DSME participants who completed the full program. Multivariate analyses found that after controlling for age, gender, race, preperiod diabetes drug use, and preperiod costs, DSME participants were found to have fewer hospital admissions, emergency department visits, and outpatient visits. Changes from baseline clinical values for DSME participants were used to project changes in diabetes-related costs using the Gilmer model. An estimated savings in diabetes-related cost over 3 years was $415 per program completer. Over 10 years, completers were estimated to experience 12% fewer coronary heart disease events and 15% fewer microvascular disease events using the United Kingdom Prospective Diabetes Study risk models. CONCLUSIONS: A DSME program for Medicaid recipients can reduce health care use among Medicaid recipients with diabetes within 1 year and over longer periods of time is likely to reduce costs associated with reduced use of health care. Plans are in place to explore the possibility of sustaining the program.     

Assessment of parental presence during bedside pediatric intensive care unit rounds: effect on duration, teaching, and privacy.

OBJECTIVE: There is a paucity of literature evaluating the effects of family member presence during bedside medical rounds in the pediatric intensive care unit. We hypothesized that, when compared with rounds without family members, parental presence during morning medical rounds would increase time spent on rounds, decrease medical team teaching/education, increase staff dissatisfaction, create more stress in family members, and violate patient privacy in our open unit. DESIGN: Prospective, blinded, observational study. SETTING: Academic pediatric intensive care unit with 12 beds. PARTICIPANTS: A total of 105 admissions were studied, 81 family members completed a survey, and 187 medical team staff surveys were completed. INTERVENTIONS: Investigators documented parental presence and time allocated for presentation, teaching, and answering questions. Surveys related to perception of goals, teaching, and privacy of rounds were distributed to participants. MEASUREMENTS: Time spent on rounds, time spent teaching on rounds, and medical staff and family perception of the effects of parental presence on rounds. RESULTS: There was no significant difference between time spent on rounds in the presence or absence of family members (p = NS). There is no significant difference between the time spent teaching by the attending physician in the presence or absence of family members (p = NS). Overall, parents reported that the medical team spent an appropriate amount of time discussing their child and were not upset by this discussion. Parents did not perceive that their own or their child's privacy was violated during rounds. The majority of medical team members reported that the presence of family on rounds was beneficial. CONCLUSIONS: Parental presence on rounds does not seem to interfere with the educational and communication process. Parents report satisfaction with participation in rounds, and privacy violations do not seem to be a concern from their perspective.     

The normative development of emotion regulation strategy use in children and adolescents: a 2‐year follow‐up study

Background: Emotion regulation involves intrinsic and extrinsic processes responsible for managing one’s emotions toward goal accomplishment. Research on emotion regulation has predominantly focused on early developmental periods and the majority of emotion regulation research examining the pre‐adult years has lacked a comprehensive theoretical framework. The current study examined the use of two strategies of emotion regulation during childhood and adolescents, as conceptualised within Gross’s (1998) process‐oriented model. Methods: To determine the use, norms and development of the Expressive Suppression and Cognitive Reappraisal strategies, the Emotion Regulation Questionnaire for Children and Adolescents (ERQ‐CA) was administered to 1,128 participants aged between 9 and 15 years. Three data collection phases, each one year apart, enabled investigation of developmental patterns in the use of the two strategies. Results: As predicted, Suppression use was found to be lower for older participants compared to their younger peers, and over time participants reported less use of this strategy. Older participants also scored lower on Reappraisal but stability over time was found. Also as expected, males reported more Suppression use compared to females. Conclusions: By documenting the development and norms for Cognitive Reappraisal and Expressive Suppression in a community sample of children and adolescents, the current study makes a significant contribution to our understanding of these two ER strategies during these developmental periods.     

Risk factors for opportunistic illnesses in children with human immunodeficiency virus in the era of highly active antiretroviral therapy

OBJECTIVE: To examine the relationship between the use of highly active antiretroviral treatment (HAART) and the occurrence of opportunistic illnesses (OIs) among children perinatally infected with human immunodeficiency virus. DESIGN: Prospective cohort study. SETTING: Pediatric AIDS Clinical Trials Group 219C cohort. PARTICIPANTS: From September 15, 2000, to August 31, 2003, 1927 children perinatally infected with human immunodeficiency virus and receiving HAART were followed up.Main Exposures Age at initiating HAART, duration of HAART use, CD4+ T-lymphocyte percentage, and human immunodeficiency virus 1 viral load. MAIN OUTCOME MEASURES: Incidence rates for Centers for Disease Control and Prevention OI category B and OI category C events were calculated. The association between main exposures and OI occurrence was estimated using proportional hazards regression. RESULTS: Of 1927 subjects, 226 (12.7%) developed OIs during follow-up. Incidence rates were 4.99 per 100 person-years (95% confidence interval, 4.30-5.76) for first OI category B events and 1.47 per 100 person-years (95% confidence interval, 1.12-1.91) for first OI category C events. Duration of HAART use was not related to OI risk. Older age (age >10 years) at HAART initiation was associated with increased risk of a first OI (hazard ratio, 2.48; 95% confidence interval, 1.23-5.00) compared with initiating HAART in children younger than 2 years. This increased risk diminished after adjusting for CD4+ T-lymphocyte percentage and Centers for Disease Control and Prevention disease category at HAART initiation. More children with OIs than without OIs had a CD4+ T-lymphocyte percentage of less than 15% at HAART initiation (49.6% of children with OIs vs 23.7% of children without OIs), at enrollment (41.2% of children with OIs vs 7.7% of children without OIs), and at the end of follow-up (41.2% of children with OIs vs 8.3% of children without OIs). CONCLUSIONS: Opportunistic illnesses are occurring in the pediatric human immunodeficiency virus population in the HAART era, mainly in children with persistently low CD4+ T-lymphocyte percentages. Lack of a sustained response to HAART rather than age at or duration of HAART use is predictive of OI risk.     

Tension pneumothorax and subcutaneous emphysema during retrieval of an ingested lithium button battery

We present a case of a child with an ingested lithium battery causing esophageal perforation with mediastinal injury extending to the pleural cavity. During the endoscopic retrieval of the battery, the child developed the rare complication of subcutaneous emphysema, tension pneumothorax, and pneumomediastinum from excessive iatrogenic air insufflation. The patient developed mediastinitis and had a complicated postoperative course.