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Background: Myocardial fibrosis has recently been proposed as one of the contributing factors to the diverse pathogenicity of cardiomyopathy in sickle cell disease. Objective: In this study, cardiac fibrosis and subclinical cardiac changes in children with sickle cell disease were evaluated using cardiac magnetic resonance imaging (MRI), tissue Doppler echocardiography and serum galectin-3. Materials and methods: The study included 34 children with sickle cell disease who were compared with a similar number of healthy controls. Cardiac MRI was used to evaluate late gadolinium enhancement, native T1 mapping, extracellular volume, and T2* for estimation of iron load. Cardiac function and myocardial performance index (MPI, evaluated by tissue Doppler echocardiography) and serum galectin-3 were compared to controls. Results: The mean age of the included patients was 13.3 ± 3.2 years. Myocardial iron load by T2* was normal. The mean level of extracellular volume (35.41 ± 5.02%) was significantly associated with the frequency of vaso-occlusive crises (P = 0.017) and negatively correlated with hemoglobin levels (P = 0.005). Galectin-3 levels were significantly higher among cases than controls (P = 0.00), at a cutoff value on the receiver operating characteristic curve of 6.5 ng/ml, sensitivity of 82.5% and specificity of 72.8%. The extracellular volume was significantly higher in cases, with a MPI > 0.4. Conclusion: Diffuse interstitial myocardial fibrosis can be detected early in children with sickle cell disease using T1 mapping and is associated with a high frequency of vaso-occlusive crisis. MPI of the left ventricle and serum galectin-3 are recommended screening tools for subclinical cardiac abnormalities. [ABSTRACT FROM AUTHOR]

Background: Patients with ischemic stroke and atrial fibrillation (AF) are at high risk of developing hemorrhagic transformation (HT). The aim of the current study is to evaluate the incidence of hemorrhagic transformation and associated risk factors in a hospital-based sample with ischemic stroke and AF patients. A prospective study with a total of 234 stroke patients with AF was consecutively recruited. HT incidence was determined by computed tomography (CT) or magnetic resonance imaging (MRI). Risk factors associated with HT was identified by comparing patients with and without HT. Results: The incidence of HT in ischemic stroke with AF was 22.6%. Univariate analysis established that old age, hypertension, diabetes mellitus, anticoagulant medications, NIHSS, cerebral microbleeds (CMB), superficial siderosis (SS) and size of infarction were significantly more frequent with HT. Multivariable logistic regression analysis demonstrated that old age [odds ratio (OR): 1.05, confidence interval (CI) 1.01–1.09], size of infarction (OR: 2.57, CI 1.06–6.27) and CMB ≥ 10 (OR: 4.68, CI 1.71–12.84) were significantly associated with the risk of HT. Conclusions: Older age, larger infarction size, and CMB ≥ 10 were risk factors significantly associated with HT. [ABSTRACT FROM AUTHOR]

Background: Covert cerebral small vessel disease (cCSVD) is associated with many age-related morbidities with little available data regarding the pathophysiology and role of genetics in it. This study aims to investigate the genetic load in a sample of Egyptian patients with cCSVD. Results: Thirty patients with cCSVD were recruited and underwent cognitive, gait, sphincter assessment, magnetic resonance imaging (MRI) brain, and blood sampling for whole exome sequencing. The mean age for the patients was 65.93 ± 8.8 with male patients representing 63.33% of the studied sample. The major risk factor was hypertension followed by diabetes mellitus, dyslipidaemia, and smoking. The main presenting symptom was cognitive impairment, found in 60% of the patients and the mean duration of symptoms was 2.1 ± 1.12 years. Two out of thirty patients were positive for a known pathogenic gene (NOTCH3 and COL4A1) despite the absence of family history in one representing 6.7% of the entire studied sample. Meanwhile, three patients had variant genes not previously linked to cCSVD. Conclusions: Whole exome sequencing and genetic studying of patients with cCSVD is of utmost importance as the genetic load is underestimated in the Egyptian population. [ABSTRACT FROM AUTHOR]

Purpose: To study optic disc in idiopathic intracranial hypertension (IIH) with diffusion tensor imaging.Methods: Prospective study was carried out on 31 consecutive patients with IIH and 17 age and sex-matched controls that underwent diffusion tensor imaging of optic nerve. Fractional anisotropy (FA) and mean diffusivity (MD) of optic disc were measured by two readers. Grades of papilledema and visual field defects were evaluated by ophthalmologist.Results: FA of optic disc was significantly lower in IIH than controls (p = 0.001) with excellent inter-observer agreement (K = 0.93) of both readers. The cutoff FA used to differentiating IIH from controls were 0.28 and 0.29 with area under curve (AUC) of 0.921 and 0.914, accuracy 92% and 91%, and sensitivity 97% and 96%. MD of optic disc were significantly higher in IIH than in controls (p = 0.001) with excellent inter-observer agreement (K = 0.91) of both readers. The cutoff MD used to differentiating IIH from controls was 1.51 and 1.22 × 10−3 mm2/s with AUC 0.943 and 0.922, and accuracy 94% and 92% respectively. FA of optic disc was significantly lower in early than advanced papilledema and visual field defects (p = 0.001, 0.001) respectively. The MD of optic disc was significantly higher in early than advanced papilledema and visual field defects (p = 0.001, 0.001) respectively.Conclusion: Diffusion tensor imaging parameters of optic disc are non-invasive reliable imaging parameters that can be used for diagnosis of IIH and well correlated with papilledema and visual field defects. [ABSTRACT FROM AUTHOR]

Purpose: To assess apparent diffusion coefficient (ADC) as a quantitative parameter for detection of vertebral bone marrow infiltration in children with Gaucher's disease type I and III. Material and methods: Prospective study was conducted on 20 infants and children (14 M, 6 F; aged 31-61 months; mean age 46 months) with Gaucher's disease type I ( n = 13) and III ( n = 7), and 20 age and sex matched controls. They underwent routine and diffusion-weighted MR imaging of the lumbar spine using echo planar imaging with b value of 0, 500 and 1000 sec/mm2. The ADC value of the lumbar vertebral bone marrow was compared in different phenotypes and genotypes; and correlated with bone marrow burden score (BMB), chitotriosidase level, hemoglobin and platelet count. Results: The mean ADC value of marrow infiltration in patients with Gaucher's disease (0.39 ± 0.06 × 10 mm/s) was significantly lower ( P = 0.001) than that of vertebral bone marrow in controls (0.54 ± 0.05 × 10 mm/s). The cut-off ADC value used to differentiate patients with Gaucher's disease from controls was (0.47 × 10 mm/s); with sensitivity of 95 %; specificity of 95 % and area under the curve of 0.986. The L444P/L444P mutation had significantly lower ADC value compared to other mutations ( P = 0.001). The mean ADC value of the bone marrow negatively correlated with BMB ( r = −0.831; P = 0.001), and biomarkers of disease activity including chitotriosidase ( r = −0.542; P = 0.014), hemoglobin ( r = −0.727; P = 0.001) and platelets ( r = −0.698; P = 0.001). Conclusion: We concluded that there is significant difference in the ADC value of vertebral bone marrow between children with Gaucher's disease and controls, and the ADC value correlated well with genotyping and some biomarkers of disease activity. [ABSTRACT FROM AUTHOR]

Objective: To compare diagnostic performance and agreement between CT, MRI and combined CT/MRI in reference to LI-RADS classification system to categorize hepatic observations detected in hepatic patients during screening ultrasound.Methods: 240 patients with 296 liver observations detected during ultrasound surveillance underwent hepatic CT and MRI examinations, histopathology, and clinical and radiological follow-up. Using LI-RADS v2014, six radiologists evaluated the observations independently and assigned a LI-RADS category to each observation using CT, MRI and combined CT/MRI.Results: Combined CT and MRI in LI-RADS yielded better accuracy (91.29 %), sensitivity (90.71 %) and specificity (92.31 %) for hepatocellular carcinoma (HCC) diagnosis than using MRI or CT alone; accuracy, sensitivity and specificity decreased to 85.37 %, 86.34 %, and 83.65 %, respectively, for MRI and 67.6 %, 54.10 % and 91.35 %, respectively, for CT. The intraclass agreement of the LI-RADS scores between CT, MRI and combined CT/MRI was excellent (κ=0.9624 (95 % CI: 0.9318-0.9806)).Conclusion: CT and MRI are complementary to each other. Combined CT/MRI enabled a more precise determination of LI-RADS category of hepatic observations; however, due to the expense and minor increase in accuracy, the combined methodology should only be utilized in cases of suspected HCC.Key Points: • Hepatic observation may be categorized differently depending on the imaging modality used. • We compared LI-RADS categorization between CT, MRI and combined CT/MRI. • MRI produces higher accuracy and sensitivity, while CT produces higher specificity. • Combining CT and MRI improves LIRADS categorization reports. • Considering additional cost, combined methodology could be restricted to challenging cases. [ABSTRACT FROM AUTHOR]

The aims of the current study are to describe gadolinium-enhanced MRI features of an acute flare of established gouty arthritis in different joints and to examine a possible association between serum uric acid and MRI signs indicative of ongoing inflammation and/or structural joint damage as well as association with disease characteristics and laboratory findings. Twenty-seven male patients with established chronic gout agreed to participate, mean age 47.6 years, and mean disease duration in months 43.2 (±31.8). For all patients, detailed demographic, disease characteristics, and laboratory findings were obtained and correlated with MRI findings. In 27 patients with established gout, a total of 50 MRI studies were performed of the following joints: feet joints ( n = 23), ankles ( n = 18), knees ( n = 5), and hand and wrist joints ( n = 4). MRI revealed capsular thickening in 19 patients, bone marrow edema (BME) in 15, soft tissue edema (STE) in 20, joint effusion in 21, bone erosions in 17, cartilaginous erosions in 4, and tenosynovitis in 9 cases. In 17 cases, tophaceous lesions were found. Post contrast MRI showed synovial thickening in seven cases. Positive correlations were observed between serum uric acid levels and the following MRI findings: capsular thickening ( r = 0.552, p = 0.003), BME ( r = 0.668, p ≤ 0.0001), STE ( r = 0.559, p = 0.002), and tenosynovitis ( r = 0.513, p = 0.006). Using MRI in chronic gout, important features can be detected like BME, minute cartilaginous erosions, and hypertrophic synovial inflammation in post contrast MR images. Serum uric acid (SUA) was positively correlated with capsular thickening, BME, STE, and tenosynovitis. [ABSTRACT FROM AUTHOR]

The aim of this work is to assess the usefulness of apparent diffusion coefficient (ADC) value of the brain for diagnosis of patients with Gaucher’s disease type II and type III. Prospective study was conducted upon 13 patients (nine boys and four girls aged 8 months–14 years: mean 6.1 years) with Gaucher’s disease type II and III and for age-matched control group ( n = 13). Diffusion-weighted magnetic resonance imaging using a single-shot echo-planar imaging with a diffusion-weighted factor b of 0, 500, and 1,000 s/mm2 was done for all patients and volunteers. The ADC value was calculated in ten regions of the brain parenchyma and correlated with genotyping. There was significantly lower ADC value of the cortical frontal ( P = 0.003), cortical temporal ( P = 0.04), frontal subcortical white matter ( P = 0.02), corticospinal tract ( P = 0.001), cerebellum ( P = 0.001), medulla ( P = 0.002), and midbrain ( P = 0.02) between patients and volunteers. There was significant difference in the ADC value of the frontal and temporal gray matter ( P = 0.04 and 0.05, respectively) between patients with heterozygous and homozygous gene mutation. We concluded that ADC value is a new promising quantitative imaging parameter that can be used for the detection of brain abnormalities in patients with Gaucher’s disease type II and type III and has a correlation with genotyping. [ABSTRACT FROM AUTHOR]