Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

In Taiwan, during the period March 2000 to June 2009, 1,495,132 neonates were screened for phenylketonuria (PKU) and homocystinuria (HCU), and 1,321,123 neonates were screened for maple syrup urine disease (MSUD), methylmalonic academia (MMA), medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, isovaleric academia (IVA), and glutaric aciduria type 1 (GA-1) using tandem mass spectrometry (MS/MS). In a pilot study, 592,717 neonates were screened for citrullinemia, 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) and other fatty acid oxidation defects in the MS/MS newborn screening. A total of 170 newborns and four mothers were confirmed to have inborn errors of metabolism. The overall incidence was approximately 1/5,882 (1/6,219 without mothers). The most common inborn errors were defects of phenylalanine metabolism [five classic PKU, 20 mild PKU, 40 mild hyperphenylalaninemia (HPA), and 13 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency]. MSUD was the second most common amino acidopathy and, significantly, most MSUD patients (10/13) belonged to the Austronesian aboriginal tribes of southern Taiwan. The most frequently detected among organic acid disorders was 3-MCC deficiency (14 newborns and four mothers). GA-1 and MMA were the second most common organic acid disorders (13 and 13 newborns, respectively). In fatty acid disorders, five carnitine transport defect (CTD), five short-chain acyl-CoA dehydrogenase deficiency (SCAD), and two medium-chain acyl-CoA dehydrogenase (MCAD) deficiency were confirmed. This is the largest case of MS/MS newborn screening in an East-Asian population to date. We hereby report the incidences and outcomes of metabolic inborn error diseases found in our nationwide MS/MS newborn screening program.     

Linking a Motivational Interviewing Curriculum to the Chronic Care Model

BACKGROUND

Unhealthy lifestyle choices frequently cause or worsen chronic diseases. Many internal medicine residents are inadequately trained to provide effective health behavior counseling, in part, due to prioritization of acute care in the traditional model of medical education and to other systemic barriers to teaching psychosocial aspects of patient care.

AIM

To address this gap in training, we developed and piloted a curriculum for a Primary Care Internal Medicine residency program that links a practical form of motivational interviewing (MI) training to the self-management support (SMS) component of the chronic care model.

PARTICIPANTS AND SETTING

All 30 primary care residents at Alameda County Medical Center were trained in the curriculum since it was initiated in 2007 during the California Academic Chronic Care Collaborative.

PROGRAM DESCRIPTION

Residents participated in three modules during which the chronic care model was introduced and motivational interviewing skills were linked to the model’s self-management support component. This training was then reinforced in the clinical setting. Case-based interactive instruction, teaching videotapes, group role-plays, faculty demonstration, and observation of resident-patient interactions in the clinical setting were used to teach the curriculum.

PROGRAM ASSESSMENT

A preliminary, qualitative assessment of this curriculum was done from a program standpoint and from the perspective of the learners. Residents reported increased sense of confidence when approaching patients about health behavior change. Faculty directly observed residents during clinical encounters using MI and SMS skills to work more collaboratively with patients and to improve patient readiness for self-management goal setting.

CONCLUSION

A curriculum that links motivational interviewing skills to the chronic care model’s self-management support component and is reinforced in the clinical setting is feasible to develop and implement. This curriculum may improve residents’ confidence with health behavior counseling and with preparing patients to become active participants in management of their chronic conditions.

     

Impact of early abciximab administration on myocardial reperfusion in patients with ST-segment elevation myocardial infarction pretreated with 600 mg of clopidogrel before percutaneous coronary intervention

Early rapid platelet inhibition with abciximab before primary percutaneous coronary intervention (PPCI) for ST-segment elevation myocardial infarction (STEMI) is suggested as beneficial. In previous studies on early abciximab administration clopidogrel was administered in cathlab in low loading dose. We investigated the role of early abciximab administration on top of early clopidogrel 600 mg loading dose in patients with STEMI treated with PPCI. A total of 73 non-shock STEMI < 6 h patients admitted to remote hospitals with anticipated delay to PPCI < 90 min were randomly assigned to three study groups—24 pts received abciximab before transfer to cathlab (early = group EA), 27 in cathlab during PPCI (late = group LA) and in 22 abciximab administration was left to operator’s discretion during PPCI (selective = SA; given in 22.7% of patients). All patients received clopidogrel (600 mg), aspirin and heparin (70 U/kg) before transfer to cathlab. Angiography revealed more frequent infarct-related artery patency (TIMI 2 + 3: EA vs LA vs SA: 45.8 vs 18.5 vs 13.6%, P = 0.024), better myocardial tissue perfusion (MBG 2 + 3: EA vs LA vs SA: 45.8 vs 14.8 vs 13.6%, P = 0.02) in EA group in baseline angiography. There was no difference in these angiographic parameters and ECG ST-segment resolution after PPCI. In multivariate analysis early abciximab administration was an independent predictor of infarct-related artery patency in baseline angiography (OR 6.5; 95% CI 1.83–23.1; P = 0.004). Early abciximab administration before transfer for PPCI in patients with STEMI pretreated with 600 mg of clopidogrel results in more frequent infarct-related artery patency and better myocardial tissue perfusion before PPCI.     

The Evolution of Alcohol Use in India

This paper traces the role of alcohol production and use in the daily lives of people in India, from ancient times to the present day. Alcohol use has been an issue of great ambivalence throughout the rich and long history of the Indian subcontinent. The behaviors and attitudes about alcohol use in India are very complex, contradictory and convoluted because of the many different influences in that history. The evolution of alcohol use patterns in India can be divided into four broad historical periods (time of written records), beginning with the Vedic era (ca. 1500–700 BCE). From 700 BCE to 1100 CE, (“Reinterpretation and Synthesis”) is the time of emergence of Buddhism and Jainism, with some new anti-alcohol doctrines, as well as post-Vedic developments in the Hindu traditions and scholarly writing. The writings of the renowned medical practitioners, Charaka and Susruta, added new lines of thought, including arguments for “moderate alcohol use.” The Period of Islamic Influence (1100–1800 CE), including the Mughal era from the 1520s to 1800, exhibited a complex interplay of widespread alcohol use, competing with the clear Quranic opposition to alcohol consumption. The fourth period (1800 to the present) includes the deep influence of British colonial rule and the recent half century of Indian independence, beginning in 1947. The contradictions and ambiguities—with widespread alcohol use in some sectors of society, including the high status caste of warriors/rulers (Kshatriyas), versus prohibitions and condemnation of alcohol use, especially for the Brahmin (scholar-priest) caste, have produced alcohol use patterns that include frequent high-risk, heavy and hazardous drinking. The recent increases in alcohol consumption in many sectors of the general Indian population, coupled with the strong evidence of the role of alcohol in the spread of HIV/STI infections and other health risks, point to the need for detailed understanding of the complex cross-currents emerging from the past history of alcohol use and abuse in India.     

Congenital toxoplasmosis—a report on the Danish neonatal screening programme 1999–2007

Objectives

This paper reports on the national neonatal screening programme for congenital toxoplasmosis (CT) in Denmark conducted from 1999 to 2007, including background, basis for initiation of screening, methods, results, and finally reasons for the discontinuation of the screening.

Methods

A nationwide screening was conducted at Statens Serum Institut, including >98% newborns, and using filter paper eluates (Guthrie card, PKU card) obtained from newborns 5–10 days old. These were analysed for Toxoplasma gondii-specific antibodies (IgM), and if positive, then IgM (ISAGA). Confirmatory serology was performed on children and their mothers (IgM, IgG, IgA, dye test) where infection was suspected, and children with suspected or confirmed CT initiated a 3-month treatment regimen with pyrimethamine, sulfadiazine and folinic acid supplements. Selective cohorts were followed with regard to developmental and clinical outcome.

Results

A total of 100 children were diagnosed with CT in the screening period, and only 2 cases were detected outside of the screening programme. CT prevalence was 1.6 per 10,000 live-born infants. Follow-up studies showed new retinochoroidal lesions in affected children despite treatment.

Conclusion

Screening was terminated August 2007, after it became apparent that no benefit of treatment could be shown. CT was evaluated using a Danish adaptation of the Uniform Screening Panel (ACMG), showing CT as an unlikely candidate for screening today. Whereas results might be comparable with other low-endemic countries with similar strains of T. gondii, neonatal screening and treatment might offer different results in regions with either high prevalence or different strains of T. gondii.

     

A Model for Interprofessional Health Disparities Education: Student-Led Curriculum on Chronic Hepatitis B Infection

BACKGROUND

Although health disparities are commonly addressed in preclinical didactic curricula, direct patient care activities with affected communities are more limited.

PURPOSE

To address this problem, health professional students designed a preclinical service-learning curriculum on hepatitis B viral (HBV) infection, a major health disparity affecting the Asian/Pacific Islander (API) population, integrating lectures, skills training, and direct patient care at student-run clinics.

SETTING

An urban health professions campus.

METHODS

Medical and other health professional students at University of California, San Francisco, organized a preclinical didactic and experiential elective, and established two monthly clinics offering HBV screening, vaccination, and education to the community.

RESULTS

Between 2004 and 2009, 477 students enrolled in the student-led HBV curriculum. Since the clinics’ inception in 2007, 804 patients have been screened for chronic HBV; 87% were API immigrants, 63% had limited English proficiency, and 46% were uninsured. Serologically, 10% were found to be chronic HBV carriers, 44% were susceptible to HBV, and 46% were immune.

DISCUSSION

Our student-led didactic and experiential elective can serve as an interprofessional curricular model for learning about specific health disparities while providing important services to the local community.

     

Sympathetic activity, assessed by power spectral analysis of heart rate variability, in white-coat, masked and sustained hypertension versus true normotension

OBJECTIVE: To assess, in a population-based approach, sympathetic nervous system activity by the use of power spectral analysis of heart rate variability, in normotension, white-coat hypertension, masked hypertension and sustained hypertension. METHODS: The electrocardiographic RR interval was registered in the supine and standing positions and the low-frequency and high-frequency components of its variability were quantified. Cut-off values of 140/90 mmHg for conventional blood pressure and 135/85 mmHg for daytime ambulatory blood pressure were used to define the four blood pressure groups. RESULTS: After exclusion of patients with diabetes, myocardial infarction or treated hypertension, 1485 subjects with complete data remained for the analysis in the supine position. Age averaged 39 +/- 14 years; 54% were women. Conventional and ambulatory blood pressure averaged, respectively, 122 +/- 16/79 +/- 11 mmHg and 124 +/- 12/77 +/- 8 mmHg. After adjusting for demographic, anthropometric and lifestyle characteristics, the low-frequency to high-frequency ratio (geometric mean) averaged 0.81 in normotension and was significantly higher in white-coat hypertension (1.11; P < 0.001), based on a higher low-frequency component and a lower high-frequency component (P < 0.01). This ratio was not significantly different between normotension, masked hypertension (0.97) and sustained hypertension (0.93). The adjusted standing-to-supine ratio of the high-frequency component (geometric mean) was significantly higher in sustained hypertension (0.50) than in normotension (0.39; P < 0.01), but not in white-coat (0.40) and masked hypertension (0.45). CONCLUSION: The findings at rest are compatible with increased sympathetic activity and decreased parasympathetic modulation in white-coat hypertension, with normal autonomic cardiac regulation in masked and sustained hypertension. In addition, sustained hypertension is characterized by a blunted decrease of the high-frequency component on standing.     

The role of auxiliary dihydropyridine receptor subunits in muscle

The skeletal muscle dihydropyridine receptor is a slowly-activating calcium channel that functions as the voltage sensor in excitation-contraction coupling. In addition to the pore-forming α_1S subunit it contains the transmembrane α₂δ-1 and γ₁ subunits and the cytoplasmic β_1a subunit. Although the roles of the auxiliary subunits in calcium channel function have been intensively studied in heterologous expression systems, their functions in excitation-contraction coupling has only recently been elucidated in muscle cells of various null-mutant animal models. In this article we will briefly outline the current state of these investigations. * To whom correspondence should be addressed: Tel.: +43-512-507-3787; Fax: +43-512-507-2836; E-mail: bernhard.e.flucher@uibk.ac.at     

The Effects of Perceived Stress on Reactions to Messages Designed to Increase Health Behaviors

This study examined the impact of perceived stress on responses to messages that encouraged the performance of health promotion and disease detection behaviors. It was hypothesized that increases in perceived stress would be associated with decreased processing of messages encouraging disease detection behaviors, and that increases in perceived stress would not effect the processing of messages encouraging health promotion behaviors. To test these hypotheses participants completed a perceived stress measure and then read a message that encouraged the performance of either a health promotion or a disease detection behavior. Then the participants were asked to indicate their agreement with the message and to attempt to recall the message. The results indicated that participants experiencing higher levels of perceived stress spent less time reading and recalled less of the messages about detection behaviors than of the messages about promotion behaviors. When participants were experiencing lower levels of perceived stress these differences disappeared.

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Occurrence of Borrelia burgdorferi s.l. in selected Ixodes ricinus populations within Nadbuzański Landscape Park

BACKGROUND: The aim of this study was to determine the prevalence of Borrelia burgdorferi sensu lato in Ixodes ricinus ticks within Nadbuzański Landscape Park (central-eastern Mazovian province, Poland). MATERIAL ANd METHODS: A total of 685 of ticks (187 adults, 393 nymphs and 105 larvae) were collected in the surroundings of seven places: Korczew, Sterdyń, Ceranów, Miedza, Stoczek, Sadowne, Lochów. RESULTS: The spirochetes DNA was detected by polymerase chain reaction (PCR) in 60 samples of DNA (8.8%) of the total number of tested ticks (taking into consideration minimal infection rate in pool by 5 nymphs or larvae). The infection rate in females, males, nymphs and larvae was 18.8%, 13.8%, 6.1% and 3.8%, respectively. The highest percentage of spirochete infection (14.1%) was detected in ticks occurring within the Lochów, while the lowest (2.7%) from Stoczek.