Validation of diabetes mellitus and hypertension diagnosis in computerized medical records in primary health care

<p>Abstract</p> <p>Background</p> <p>Computerized Clinical Records, which are incorporated in primary health care practice, have great potential for research. In order to use this information, data quality and reliability must be assessed to prevent compromising the validity of the results.</p> <p>The aim of this study is to validate the diagnosis of hypertension and diabetes mellitus in the computerized clinical records of primary health care, taking the diagnosis criteria established in the most prominently used clinical guidelines as the gold standard against which what measure the sensitivity, specificity, and determine the predictive values.</p> <p>The gold standard for diabetes mellitus was the diagnostic criteria established in 2003 American Diabetes Association Consensus Statement for diabetic subjects. The gold standard for hypertension was the diagnostic criteria established in the Joint National Committee published in 2003.</p> <p>Methods</p> <p>A cross-sectional multicentre validation study of diabetes mellitus and hypertension diagnoses in computerized clinical records of primary health care was carried out. Diagnostic criteria from the most prominently clinical practice guidelines were considered for standard reference.</p> <p>Sensitivity, specificity, positive and negative predictive values, and global agreement (with kappa index), were calculated. Results were shown overall and stratified by sex and age groups.</p> <p>Results</p> <p>The agreement for diabetes mellitus with the reference standard as determined by the guideline was almost perfect (κ = 0.990), with a sensitivity of 99.53%, a specificity of 99.49%, a positive predictive value of 91.23% and a negative predictive value of 99.98%.</p> <p>Hypertension diagnosis showed substantial agreement with the reference standard as determined by the guideline (κ = 0.778), the sensitivity was 85.22%, the specificity 96.95%, the positive predictive value 85.24%, and the negative predictive value was 96.95%. Sensitivity results were worse in patients who also had diabetes and in those aged 70 years or over.</p> <p>Conclusions</p> <p>Our results substantiate the validity of using diagnoses of diabetes and hypertension found within the computerized clinical records for epidemiologic studies.</p

Where are you from, stranger? The enigmatic biogeography of North African pond turtles (Emys orbicularis) .

Abstract The European pond turtle (Emys orbicularis) is a Nearctic element in the African fauna and thought to have invaded North Africa from the Iberian Peninsula. All North African populations are currently identified with the subspecies E. o. occidentalis. However, a nearly range-wide sampling in North Africa used for analyses of mitochondrial and microsatellite DNA provides evidence that only Moroccan populations belong to this taxon, while eastern Algerian and Tunisian pond turtles represent an undescribed distinct subspecies. These two taxa are most closely related to E. o. galloitalica with a native distribution along the Mediterranean coast of northern Spain through southern France to western and southern Italy. This group is sister to a clade comprising several mitochondrial lineages and subspecies of E. orbicularis from Central and Eastern Europe plus Asia, and the successive sisters are E. o. hellenica and E. trinacris. Our results suggest that E. orbicularis has been present in North Africa longer than on the Iberian Peninsula and that after an initial invasion of North Africa by pond turtles from an unknown European source region, there was a phase of diversification in North Africa, followed by a later re-invasion of Europe by one of the African lineages. The differentiation of pond turtles in North Africa parallels a general phylogeographic paradigm in amphibians and reptiles, with deeply divergent lineages in the western and eastern Maghreb. Acknowledging their genetic similarity, we propose to synonymize the previously recognized Iberian subspecies E. o. fritzjuergenobsti with E. o. occidentalis sensu stricto. The seriously imperiled Moroccan populations of E. o. occidentalis represent two Management Units different in mitochondrial haplotypes and microsatellite markers. The conservation status of eastern Algerian pond turtles is unclear, while Tunisian populations are endangered. Considering that Algerian and Tunisian pond turtles represent an endemic taxon, their situation throughout the historical range should be surveyed to establish a basis for conservation measures

Ultrasound-guided diagnostic breast biopsy methodology: retrospective comparison of the 8-gauge vacuum-assisted biopsy approach versus the spring-loaded 14-gauge core biopsy approach

<p>Abstract</p> <p>Background</p> <p>Ultrasound-guided diagnostic breast biopsy technology represents the current standard of care for the evaluation of indeterminate and suspicious lesions seen on diagnostic breast ultrasound. Yet, there remains much debate as to which particular method of ultrasound-guided diagnostic breast biopsy provides the most accurate and optimal diagnostic information. The aim of the current study was to compare and contrast the 8-gauge vacuum-assisted biopsy approach and the spring-loaded 14-gauge core biopsy approach.</p> <p>Methods</p> <p>A retrospective analysis was done of all ultrasound-guided diagnostic breast biopsy procedures performed by either the 8-gauge vacuum-assisted biopsy approach or the spring-loaded 14-gauge core biopsy approach by a single surgeon from July 2001 through June 2009.</p> <p>Results</p> <p>Among 1443 ultrasound-guided diagnostic breast biopsy procedures performed, 724 (50.2%) were by the 8-gauge vacuum-assisted biopsy technique and 719 (49.8%) were by the spring-loaded 14-gauge core biopsy technique. The total number of false negative cases (i.e., benign findings instead of invasive breast carcinoma) was significantly greater (P = 0.008) in the spring-loaded 14-gauge core biopsy group (8/681, 1.2%) as compared to in the 8-gauge vacuum-assisted biopsy group (0/652, 0%), with an overall false negative rate of 2.1% (8/386) for the spring-loaded 14-gauge core biopsy group as compared to 0% (0/148) for the 8-gauge vacuum-assisted biopsy group. Significantly more (P < 0.001) patients in the spring-loaded 14-gauge core biopsy group (81/719, 11.3%) than in the 8-gauge vacuum-assisted biopsy group (18/724, 2.5%) were recommended for further diagnostic surgical removal of additional tissue from the same anatomical site of the affected breast in an immediate fashion for indeterminate/inconclusive findings seen on the original ultrasound-guided diagnostic breast biopsy procedure. Significantly more (P < 0.001) patients in the spring-loaded 14-gauge core biopsy group (54/719, 7.5%) than in the 8-gauge vacuum-assisted biopsy group (9/724, 1.2%) personally requested further diagnostic surgical removal of additional tissue from the same anatomical site of the affected breast in an immediate fashion for a benign finding seen on the original ultrasound-guided diagnostic breast biopsy procedure.</p> <p>Conclusions</p> <p>In appropriately selected cases, the 8-gauge vacuum-assisted biopsy approach appears to be advantageous to the spring-loaded 14-gauge core biopsy approach for providing the most accurate and optimal diagnostic information.</p

Natural History of MYH7-Related Dilated Cardiomyopathy

BACKGROUND: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVE: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS: We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited from 29 international centers. RESULTS: At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% ± 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of ≤35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS: MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare

Ischaemic conditioning and targeting reperfusion injury: a 30 year voyage of discovery

To commemorate the auspicious occasion of the 30th anniversary of IPC, leading pioneers in the field of cardioprotection gathered in Barcelona in May 2016 to review and discuss the history of IPC, its evolution to IPost and RIC, myocardial reperfusion injury as a therapeutic target, and future targets and strategies for cardioprotection. This article provides an overview of the major topics discussed at this special meeting and underscores the huge importance and impact, the discovery of IPC has made in the field of cardiovascular research

Human and mouse essentiality screens as a resource for disease gene discovery.

The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from viability and phenotyping screens performed on knockout mice by the International Mouse Phenotyping Consortium and essentiality screens carried out on human cell lines. We propose a cross-species gene classification across the Full Spectrum of Intolerance to Loss-of-function (FUSIL) and demonstrate that genes in five mutually exclusive FUSIL categories have differing biological properties. Most notably, Mendelian disease genes, particularly those associated with developmental disorders, are highly overrepresented among genes non-essential for cell survival but required for organism development. After screening developmental disorder cases from three independent disease sequencing consortia, we identify potentially pathogenic variants in genes not previously associated with rare diseases. We therefore propose FUSIL as an efficient approach for disease gene discovery

A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)

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