Central Iowa Juvenile Detention Center, June 30, 2003

Other Audit Report

Point Mutations in the Monocarboxylate Transporter SLC16A12 Lead to Juvenile and Age-Related Cataract

Purpose: Previously we reported on a premature termination mutation in SLC16A12 that leads to dominant juvenile cataract and renal glucosuria. To assess the mutation rate and genotype-phenotype correlations of SLC16A12 in juvenile or age-related forms of cataract, we performed a mutation screen in cataract patients. Methods: Clinical data of approximately 660 patients were collected, genomic DNA was isolated and analyzed. Exons 3 to 8 including flanking intron sequences of SLC16A12 were PCR amplified and DNA sequence was determined. Selected mutations were tested by cell culture assays, in silico analysis and RT-PCR. Results: We found sequence alterations at a rate of approximately 1/75 patients. None of them was found in 360 control alleles. Alterations affect splice site and regulatory region but most mutations caused an amino acid substitution. The majority of the coding region mutations maps to trans-membrane domains. One mutation located to the 5'UTR. It affects translational efficiency of SLC16A12. In addition, we identified a cataract-predisposing SNP in the non-coding region that causes allele-specific splicing of the 5'UTR region. Conclusions: Altered translational efficiency of the solute carrier SLC16A12 and its allele-specific splicing strongly support a model of challenged homeostasis to cause various forms of cataract. In addition, the pathogenic property of the here reported sequence alterations is supported by the lack of known sequence variations within the coding region of SLC16A12. Due to the relatively high mutation rate, we suggest to include SLC16A12 in diagnostic cataract screening. Generally, our data recommend the assessment of regulatory sequences for diagnostic purposes.

Association of smoking and nicotine dependence with pre-diabetes in young and healthy adults.

INTRODUCTION: Several studies have shown an increased risk of type 2 diabetes among smokers. Therefore, the aim of this analysis was to assess the relationship between smoking, cumulative smoking exposure and nicotine dependence with pre-diabetes. METHODS: We performed a cross-sectional analysis of healthy adults aged 25-41 in the Principality of Liechtenstein. Individuals with known diabetes, Body Mass Index (BMI) >35 kg/m² and prevalent cardiovascular disease were excluded. Smoking behaviour was assessed by self-report. Pre-diabetes was defined as glycosylated haemoglobin between 5.7% and 6.4%. Multivariable logistic regression models were done. RESULTS: Of the 2142 participants (median age 37 years), 499 (23.3%) had pre-diabetes. There were 1,168 (55%) never smokers, 503 (23%) past smokers and 471 (22%) current smokers, with a prevalence of pre-diabetes of 21.2%, 20.9% and 31.2%, respectively (p <0.0001). In multivariable regression models, current smokers had an odds ratio (OR) of pre-diabetes of 1.82 (95% confidential interval (CI) 1.39; 2.38, p <0.0001). Individuals with a smoking exposure of <5, 5-10 and >10 pack-years had an OR (95% CI) for pre-diabetes of 1.34 (0.90; 2.00), 1.80 (1.07; 3.01) and 2.51 (1.80; 3.59) (p linear trend <0.0001) compared with never smokers. A Fagerström score of 2, 3-5 and >5 among current smokers was associated with an OR (95% CI) for pre-diabetes of 1.27 (0.89; 1.82), 2.15 (1.48; 3.13) and 3.35 (1.73; 6.48) (p linear trend <0.0001). DISCUSSION: Smoking is strongly associated with pre-diabetes in young adults with a low burden of smoking exposure. Nicotine dependence could be a potential mechanism of this relationship.

North Iowa Juvenile Detention Services Commission, June 30, 2003

Other Audit Reports

O manejo da cetoacidose em pacientes com Diabetes Mellitus : subsídios para a prática clínica de enfermagem

A cetoacidose diabética é uma condição aguda e grave que se desenvolve predominantemente em pacientes com Diabetes mellitus do tipo 1 e é induzida pela deficiência relativa ou absoluta de insulina. Ocorre comumente em associação a situações de estresse, que elevam os níveis dos hormônios contra-reguladores e constitui importante emergência clínica, que requer intervenções imediatas e efetivas. Assim, pretende-se, por meio deste artigo, com base na fisiopatologia e nas manifestações clínicas, fornecer subsídios para a prática clínica de enfermagem no manejo da cetoacidose diabética.

Reutilização de seringas descartáveis no domicílio de crianças e adolescentes com diabetes mellitus

O fornecimento inadequado ou insuficiente de medicações e materiais para aplicar insulina, leva às famílias a adotarem estratégias variadas, como a prática de reutilização de seringas na tentativa de minimizar os custos com a doença. Objetivos: avaliar a prática de preparo e aplicação de insulina, evidenciar alterações freqüentes nos locais de aplicação de insulina. Este estudo foi comparativo, transversal, com 199 crianças e adolescentes diabéticos do Ambulatório do Instituto da Criança de São Paulo. Dividiu-se em Grupo A que reutiliza seringas descartáveis e Grupo B não as reutiliza. Estratégia comum foi o reencape da agulha sem limpeza prévia, guarda dentro ou fora da geladeira em recipiente fechado. Maior queixa foi a dor. O Hospital e o enfermeiro foram os responsáveis pela orientação dessa prática.

Iowa Criminal and Juvenile Justice Plan 2003 Update, 2003

This report discusses a number of topics and presents data and other information in response to Iowa Code Section 216A.135’s mandate for an annual Plan Update. It was prepared as an e-document and relies mainly on links to other documents which, when combined, make up the complete report.

Iowa Criminal and Juvenile Justice Plan 2004 Update, 2004

This report discusses a number of topics and presents data and other information in response to Iowa Code Section 216A.135’s mandate for an annual Plan Update. It was prepared as an e-document and relies mainly on links to other documents which, when combined, make up the complete report.

Iowa Criminal and Juvenile Justice Plan 2002 Update, 2002

This report discusses a number of topics and presents data and other information in response to Iowa Code Section 216A.135’s mandate for an annual Plan Update. It was prepared as an e-document and relies mainly on links to other documents which, when combined, make up the complete report. The outline that follows names the issues being presented this year by the CJJPAC and is both a table of contents and a “site-map” for the report.

Iowa Juvenile Crime Prevention Community Grant Fund Outcomes Report and FY 2002 Juvenile Justice Youth Development Program Summary, 2002

This document contains two related, but separate reports. The Juvenile Crime Prevention Community Grant Fund Outcomes Report is a summary of outcomes from services and activities funded through the Juvenile Crime Prevention Community Grant Fund in FY2001. The Juvenile Justice Youth Development Program Summary describes Iowa communities current prevention and sanction programs supported with funding from the Division of Criminal and Juvenile Justice Planning (CJJP) during FY2002.

Juvenile Crime Prevention Community Grant Fund Outcomes Report and FY 2002 Juvenile Justice Youth Development Program Summary, 2002

This document contains two related, but separate reports. The Juvenile Crime Prevention Community Grant Fund Outcomes Report is a summary of outcomes from services and activities funded through the Juvenile Crime Prevention Community Grant Fund in FY 2001. The Juvenile Justice Youth Development Program Summary describes Iowa communities’ current prevention and sanction programs supported with funding from the Division of Criminal and Juvenile Justice Planning (CJJP) during FY 2002.

Iowa Juvenile Crime Prevention Community Grant Fund, 2000

The Division of Criminal & Juvenile Justice Planning, as a part of its duties to administer Iowa’s Juvenile Crime Prevention Community Grant Fund, compiled the information contained in this report. Persons involved in the preparation of this report include Eric Sage, Sonya Wendell, and Richard Moore. Much of the report’s descriptions of community projects was adapted from narrative information contained in the applications and progress reports of agencies and units of government throughout the state that are participating in the Juvenile Crime Prevention Community Grant Fund.

Iowa Comprehensive Strategy for Serious, Violent, and Chronic Juvenile Offenders 1999 - 2000 Report, 2000

The Division of Criminal and Juvenile Justice Planning, as part of its duties to administer the Comprehensive Strategy in Iowa, compiled the information contained in this report.

Iowa Juvenile Crime Prevention Community Grant Fund Outcomes Report, 2000

The following Outcome Reports are derived from the Iowa Juvenile Crime Prevention Community Grant Fund 1999-2000 Report compiled by the Division of Criminal and Juvenile Justice Planning, Department of Human Rights. The report includes background information on the Community Grant Fund and more detailed information on the individual community programs (community collaboration, program overview, contact information, and budget).