Familial balanced (7;11;21)translocation and Down''s syndrome in two siblings

Cytogenetic studies of a family with two children with Down's syndrome have revealed a balanced reciprocal translocation between chromosomes No. 7, 11 and 21 in the mother. One of three daughters has inherited this translocation. two mongoloid daughters have a supernumerary chromosome No. 21 in addition to the translocation.     

Internet-based screening for Chlamydia trachomatis to reach non-clinic populations with mailed self-administered vaginal swabs

BACKGROUND: Testing for Chlamydia trachomatis by nucleic acid amplification tests (NAATs) using self-collected vaginal swabs (VS) is acceptable and accurate. The objectives were to implement an educational Internet-based program for women to facilitate home screening, to determine whether women would request and use self-collected VS kits, to determine associated risk factors for infection, and to determine satisfaction with the process. METHODS: The website, www.iwantthekit.org, was designed to encourage women > or =14 years to obtain home-sampling kits. Kits could be obtained in the community, requested by Internet/e-mail, or telephone. Users mailed the self-collected VS to the laboratory. Swabs were tested by 3 NAAT assays. Respondents called for results. RESULTS: Forty-one of 400 (10.3%) women were chlamydia positive; 95.1% were treated. Questionnaires indicated 89.5% preferred self-collection, 93.5% rated collection easy/very easy, and 86.3% would use the Internet program again. Black race and age <25 years were associated independently with being chlamydia positive, while use of birth control and non-consensual sex were protective. Thirty-six of 41 (87.8%) positive samples were positive by all 3 NAATs, 5/41 (12.2%) were positive by only 2 NAATs, and none were positive by only 1 NAAT. The Internet/e-mail request method was better than the community pick-up approach because 97.2% of kit requests were e-mailed and 87.5% of kits returned for testing were e-mail requested. CONCLUSIONS: Women will use the Internet to request and use home-sampling kits for chlamydia. NAAT testing performed well on dry-transported VS. High prevalence was detected and questionnaires indicated high-risk sexual behavior.     

e-Portfolio Competency Metadata: Pilot Study for a Call to Action

The six competency domains required by the Accreditation Council for Graduate Medical Education (ACGME) have led to a proliferation of measurement tools, assessment methods, and all forms of data from paper to electronic. The need exists to develop a standardized electronic (e)-portfolio to provide the aggregate data to improve education and patient care. This process requires a sound methodology using XML metadata to allow portability of e-portfolio data. We surveyed publicly available metadata and developed an e-portfolio system for the Henry Ford Hospital General Surgery Residency Program. Based on our implementation of e-portfolios for 70 physicians, we call upon the ACGME, the Residency Review Committees, and the American Board of Medical Specialties to establish a method to formalize and develop a standard for residency competency metadata. Using an approach similar to that of our study can streamline data and lead to improved medical education and ultimately better patient care.     

External validation of two diabetes risk scores in a young UK South Asian population

Aims

To externally validate the Leicester Practice Risk Score (LPRS) and the Leicester Risk Assessment score (LRAS) in a young South Asian population.

Methods

South Asian participants aged 25–39 years inclusive from a population based screening study were included. The risk scores were calculated and compared to the diagnosis of type 2 diabetes mellitus (T2DM) or T2DM and Impaired Glucose Regulation (IGR, including IFG and IGT) using either an oral glucose tolerance test (OGTT) or a HbA1c (≤48 mmol/mol/6.5% and ≤42 mmol/mol/6.0% respectively). Measures of discrimination and calibration were calculated.

Results

Of the 331 participants 8 (2.4%) had undiagnosed T2DM and 30 (9.1%) had IGR using an OGTT, 11 (3.4%) and 39 (12.1%) were found using HbA1c. Using the LPRS to detect T2DM on an OGTT gives an area under the ROC curve of 0.91 (95% CI 0.86, 0.97), including those with IGR gives an ROC of 0.72 (0.62–0.81), these values are 0.93 (0.88, 0.98) and 0.68 (0.60, 0.77) when using an HbA1c to define outcome. Acceptable levels of calibration were seen. Similar results are found for the LRAS.

Conclusions

These scores can be used to identify those with undiagnosed T2DM and/or IGR in a young South Asian population. This is the first study to externally validate scores developed for prevalent undiagnosed disease in this age group using both OGTT and HbA1c.     

First Nations health care and the Canadian covenant

In this paper I explore the relationship between the Canadian state and Canada’s First Nations, in the context of the Canadian health care system. I argue that Canada’s provision of health care to its citizens can be best understood morally in terms of a covenant, but that the covenant fails to meet the needs of indigenous peoples. I consider three ways of changing the relationship and obligations linking Canada’s First Nations and the Canadian state, with regard to health care- assimilation, accommodation and separation. I argue that all of these options create problems, and at present there is a good argument for working with the status quo, accepting that First Nations are outside the covenant, and securing the state’s commitment to their health care on the basis of their citizenship and the liberal principle of equal treatment of citizens by the state.     

Serum LDH in chronic cough: a potential marker of airway inflammation

Introduction and Objectives: Lactate dehydrogenase (LDH) is found in almost all tissues of the body and five different isoenzymes are known (LDH‐1 to LDH‐5). LDH can be elevated in many pathological conditions. We have observed serum LDH to be increased in patients with chronic cough. We wanted to confirm this finding, study the reproducibility and determine the origin of the LDH. Methods: Patients prospectively seen at the Hull Cough Clinic had total and specific LDH isoenzyme levels in serum determined. A subgroup of patients also had a serum creatine phosphokinase (CK) measured. Patients completed cough symptom scores and the Hull Airway Reflux Questionnaire (HARQ). Spirometry was performed. Results: Eighty‐three patients were included. Forty‐two percent had LDH values above the reference range and 78% had LDH values in the fourth quartile of the reference range or above. This increase in LDH was predominantly because of a rise in isoenzymes 4 and 5. The increase in LDH was found to be reproducible at 8 weeks. Ten percent had CK values above the normal range. There was no correlation observed between LDH values and the cough scores, HARQ scores or lung function. Conclusion: Serum LDH levels are elevated in a substantial proportion of patients with chronic cough. This rise is likely to be due to airway inflammation known to be associated with chronic cough. Please cite this paper as: Faruqi S, Wilmot R, Wright C and Morice AH. Serum LDH in chronic cough: a potential marker of airway inflammation. Clin Respir J 2012; 6: 81–87.     

Getting back to zero with nucleated red blood cells: following trends is not necessarily a bad thing

BackgroundThe presence of nucleated red blood cells (NRBCs) has been identified as a poor prognostic indicator. We investigated the relationship of NRBC trends in patients with and without trauma.MethodsWe retrospectively reviewed surgical intensive care unit admissions over 4 years, categorizing trauma and nontrauma patients and subdividing them into 3 groups: group A, all-zero NRBC; group B, positive NRBC value returning to zero; and group C, positive NRBC value that did not return to zero. We analyzed all groups for outcomes of length of stay and mortality.ResultsGroup A was the largest and had the shortest length of stay and least mortality. Group C had the highest mortality rate. No statistical difference was observed with mortality.ConclusionsAny positive NRBC was associated with poor outcome, and increasing NRBC was associated with increasing mortality. Trends in NRBC values showed that returning to zero was protective.     

Serum C-reactive protein in normal and infected neonates

Serum C-reactive protein determinations were performed on well and sick neonates, in order to gain information about normal values and its value in the diagnosis of neonatal septicaemia. The median value in 48 cord sera was 200 micrograms/l (range 15 to greater than 6,000 micrograms/L); there was no correlation between paired maternal and cord serum CRP levels (12 pairs). Thirty-six children were followed from birth for a mean of 20 days. There were 21 episodes of confirmed infection in 16 children, each associated with a sustained rise in C-reactive protein, often commencing before there was clinical evidence of infection. In four patients with raised levels, infection was suspected, but no firm evidence was obtained. In the remaining 16 children there were no values above 10 mg/l, and the 95th centile was about 6 mg/l, with no difference between values obtained in the first three days of life and those found subsequently. Hyaline membrane disease and jaundice were not associated with a rise. Raised serum C-reactive proteins is a good indicator of the presence of infection in the neonatal period.