The development of the novel 22 X- indel multiplex system for forensic genetics.

InDel (Insertions/deletion) markers have been used as an alternative, or as a complementary marker system, to STR markers in human identification due to their advantages such as low mutation rates, no stutter, and potential small amplicon sizes. In forensic sciences, sex chromosomes are widely used in forensic genetics for specific cases. For example, the relationship between father and daughter can be determined by using X-InDels. In this study, we developed a novel 22 X-InDel multiplex system that was identified by two separate assays with fluorescence amplification and capillary electrophoresis detection technology. We chose 22 X-InDel markers based on the following criteria: mean heterozygosity over 30% in Europeans; minimum of 250 Kb differences between each InDel loci; and an amplicon length that was less than 300 bp. We performed an optimization and validation study of 22 X-InDel systems under the following parameters: analytical threshold, sensitivity, precision and accuracy, stochastic threshold, repeatability, and reproducibility. We evaluated the allele frequency of this multiplex system in the Turkish population, and then the population comparisons were carried out on data from 1000 Genome populations (Europe, Africa, America, South Asia, and East Asia). The sensitivity test showed a complete genotyping profile with DNA concentrations as low as 0.5 ng. The heterozygosity ratio of 22 X-InDel loci was determined as 0.4690 and the discrimination power was defined as 0.99. The results show that the new 22 X-InDel multiplex system provides high polymorphism information, and it is a reproducible, accurate, sensitive, and robust system that could be used as an additional tool for kinship testing.

Is there a role for DWI in the diagnosis of sacroiliitis based on ASAS criteria?

PURPOSE: Sacroiliitis based on MRI is one of the main diagnostic criteria of axial spondyloarthritis (SpA). Our purpose was to assess (a) whether apparent diffusion coefficient (ADC) values on diffusion-weighted imaging (DWI) differ between regions of bone marrow edema (BME) and subchondral normal-appearing bone marrow (NABM) in active sacroiliitis, (b) whether ADC values can differentiate early SpA and chronic SpA, both in the active and inactive phase, and (c) whether ADC values are related to laboratory findings. MATERIALS AND METHODS: 47 patients (24 female, 23 male, mean age: 38.53 years) with the diagnosis of SpA were included in this retrospective study. 20 age- and sex-matched subjects without SpA constituted the control group. ADC measurements were taken from all lesions and NABM of each sacroiliac joint. RESULTS: A total number of 120 subchondral BME lesions (acute: 17, chronic active: 103) were noted. The mean ADC values of the BME lesions (1.30 ± 0.18 × 10(-3) mm(2)/s) were significantly higher than the ADC values in the NABM regions (0.55 ± 0.08 × 10(-3) mm(2)/s) as well as in both the control group (0.56 ± 0.05 × 10(-3) mm(2)/s) and the chronic inactive group (0.54 ± 0.03 × 10(-3) mm(2)/s). There were more BME regions in patients with chronic active sacroiliitis than early SpA patients. Correlation was found between the CRP values and ADC values. CONCLUSION: DWI with ADC values may be complementary to FS T2-weighted or STIR MR images for accurately diagnosing inflammatory sacroiliitis. The value of DWI versus dynamic contrast-enhanced imaging in the follow-up needs to be clarified.

Relationship of neutrophil-lymphocyte ratio with the presence, severity, and extent of coronary atherosclerosis detected by coronary computed tomography angiography.

We evaluated whether the neutrophil-lymphocyte ratio (NLR) was associated with the presence, severity, and extent of coronary atherosclerotic plaques detected by computed tomography angiography (CTA). We studied 238 patients who underwent dual-source 64-slice CTA for the assessment of coronary artery disease. Coronary arteries were evaluated on 16-segment basis and critical plaque was described as luminal narrowing >50%. In regression analysis, being in the third NLR tertile increased the risk of coronary atherosclerosis (odds ratio [OR], 2.30; 95% confidence interval [CI], 1.15-4.43; P = .023). When the severity of coronary atherosclerosis was assessed, being in the third NLR tertile increased the risk of critical luminal stenosis (OR, 2.60; 95% CI, 1.19-5.69; P = .017). Although plaque morphology was not associated with NLR, the extent of coronary atherosclerosis was increased with higher NLR tertiles (P = .001). Our results suggest that a higher NLR may be a useful additional measure to assess cardiovascular risk in clinical practice.

Percutaneous treatment of huge congenital coronary-cameral fistula.

An 11-year-old girl was admitted to our hospital with a history of fatigue, effort dyspnea, and chest pain. On transthoracic echocardiography, the parasternal short-axis and apical four-chamber color Doppler flow imaging showed a structure matching the level of the coronary sinus and pouring into the right ventricle. On multi-slice computed tomography, the circumflex artery became immediately narrowed just before draining in to the base of the right ventricle, close to the septal leaflet of the tricuspid leaflet, and the Qp/Qs was 1.6. Congenital coronary-cameral fistula is an infrequent condition that establishes a direct link between coronary arteries and cardiac chambers. Although coronary artery fistulae are commonly asymptomatic, they may cause severe symptoms depending on the severity of the shunt, and may be treated medically, surgically or by transcatheter closure. In this case report, we present a patient with a huge circumflex artery-to-right ventricle fistula treated successfully with a duct occluder device.

Aorto-left ventricular tunnel originating from the left coronary sinus with aortic aneurysm in an 11-year-old boy.

Aorto-left ventricular tunnel, characterized by extracardiac communication between the ascending aorta and left ventricle, is a very rare congenital condition. Although some affected infants remain asymptomatic until adulthood, most present with symptoms of heart failure during their first year of life. We report the case of an 11-year-old boy who had coexisting abnormalities: an aorto-left ventricular tunnel originating from the left coronary sinus, and an ascending aortic aneurysm. The patient underwent on-pump surgical correction and was in New York Heart Association functional class I status a year later. We also review the nature of this rare condition.

Successful treatment of renal artery thromboembolism with low-dose prolonged infusion of tissue-typed plasminogen activator in a patient with mitral mechanical heart valve thrombosis under the guidance of multimodality imaging.

This case report describes the use of low-dose prolonged infusion of tissue-typed plasminogen activator in the treatment of renal artery thromboembolism secondary to prosthetic valve thrombosis, under the guidance of multimodality imaging. Thromboembolic occlusion of renal arteries is a rare disorder with serious consequences. It is generally associated with cardiac diseases and arrhytmias. Four consecutive doses of low-dose prolonged infusion of tissue-typed plasminogen activator [25 mg tissue-typed plasminogen activator (tpa) in 6 h] were administered to the patient. This case of renal artery thromboembolism secondary to mitral mechanical prosthetic valve thrombosis was successfully treated with low-dose prolonged infusion of tPA under the guidance of multimodality imaging with renal artery Doppler ultrasonography, multislice computerized tomographic angiography, renal angiography, two-dimensional and real-time three-dimensional transesophageal echocardiography. This case has demonstrated that low-dose prolonged infusion of tissue-typed plasminogen activator may be effective and well tolerated in the treatment of renal embolism.