Comparison of Vendor-Independent Software Tools for Liver Proton Density Fat Fraction Estimation at 1.5 T.

(1) Background: Open-source software tools are available to estimate proton density fat fraction (PDFF). (2) Methods: We compared four algorithms: complex-based with graph cut (GC), magnitude-based (MAG), magnitude-only estimation with Rician noise modeling (MAG-R), and multi-scale quadratic pseudo-Boolean optimization with graph cut (QPBO). The accuracy and reliability of the methods were evaluated in phantoms with known fat/water ratios and a patient cohort with various grades (S0-S3) of steatosis. Image acquisitions were performed at 1.5 Tesla (T). (3) Results: The PDFF estimates showed a nearly perfect correlation (Pearson r = 0.999, p < 0.001) and inter-rater agreement (ICC = from 0.995 to 0.999, p < 0.001) with true fat fractions. The absolute bias was low with all methods (0.001-1%), and an ANCOVA detected no significant difference between the algorithms in vitro. The agreement across the methods was very good in the patient cohort (ICC = 0.891, p < 0.001). However, MAG estimates (-2.30% ± 6.11%, p = 0.005) were lower than MAG-R. The field inhomogeneity artifacts were most frequent in MAG-R (70%) and GC (39%) and absent in QPBO images. (4) Conclusions: The tested algorithms all accurately estimate PDFF in vitro. Meanwhile, QPBO is the least affected by field inhomogeneity artifacts in vivo.

Endovascular Treatment of Pelvic Venous Congestion Syndrome in Nulliparous Patients-Preliminary Results of 10 Years of Experience.

PURPOSE: The aim of this article is to present our experience with minimally-invasive treatment for nulliparous patients with pelvic venous congestion syndrome (PVCS) with special attention to anatomical considerations, procedural and clinical outcome. MATERIALS AND METHODS: In this retrospective, monocentric study, 21 patients with PVCS treated from January 2014 to June 2023 were included. The preprocedural imaging evaluation of PVCS was based on color Doppler ultrasound, contrast-enhanced CT and/or MRI. In all cases insufficient ovarian veins and/or internal iliac branches were occluded with coils and sclerosant. Procedural and clinical outcomes were measured 30 and 90 days after the procedure. RESULTS: Average duration of pelvic pain was 44.8 ± 54.2 months (from 6 to 200) with the mean VAS-recorded pain intensity of 8.5 ± 1.1 (range from 7 to 10 where 0 was "no pain" and 10 "worst pain possible"). Most common symptoms included dysmenorrhea, dyspareunia and dysuria. Complete embolization was observed in in all cases. Targeted vessels included left ovarian vein (13/21, 62%), both ovarian veins (7/21, 33%) and left pudendal with left ovarian (1/21, 5%). Residual PVCS was noted in 1 patient. Mean VAS at 90-days after the procedure was 2.4 ± 1.4 (range from 0 to 6, p < 0.001). Nineteen patients (90%) were satisfied with the clinical outcome (13 "very satisfied", 6 "satisfied") and reported improvement in quality of life. Two patients (9.5%) reported to be "neutral" as the VAS reduction was less than 50%. CONCLUSION: Our study confirms that endovascular coil embolization is safe and effective in treatment of nulliparous patients with PVCS that provides very high rate of clinical success and overall satisfaction.

The Calculation and Evaluation of an Ultrasound-Estimated Fat Fraction in Non-Alcoholic Fatty Liver Disease and Metabolic-Associated Fatty Liver Disease.

We aimed to develop a non-linear regression model that could predict the fat fraction of the liver (UEFF), similar to magnetic resonance imaging proton density fat fraction (MRI-PDFF), based on quantitative ultrasound (QUS) parameters. We measured and retrospectively collected the ultrasound attenuation coefficient (AC), backscatter-distribution coefficient (BSC-D), and liver stiffness (LS) using shear wave elastography (SWE) in 90 patients with clinically suspected non-alcoholic fatty liver disease (NAFLD), and 51 patients with clinically suspected metabolic-associated fatty liver disease (MAFLD). The MRI-PDFF was also measured in all patients within a month of the ultrasound scan. In the linear regression analysis, only AC and BSC-D showed a significant association with MRI-PDFF. Therefore, we developed prediction models using non-linear least squares analysis to estimate MRI-PDFF based on the AC and BSC-D parameters. We fitted the models on the NAFLD dataset and evaluated their performance in three-fold cross-validation repeated five times. We decided to use the model based on both parameters to calculate UEFF. The correlation between UEFF and MRI-PDFF was strong in NAFLD and very strong in MAFLD. According to a receiver operating characteristics (ROC) analysis, UEFF could differentiate between <5% vs. ≥5% and <10% vs. ≥10% MRI-PDFF steatosis with excellent, 0.97 and 0.91 area under the curve (AUC), accuracy in the NAFLD and with AUCs of 0.99 and 0.96 in the MAFLD groups. In conclusion, UEFF calculated from QUS parameters is an accurate method to quantify liver fat fraction and to diagnose ≥5% and ≥10% steatosis in both NAFLD and MAFLD. Therefore, UEFF can be an ideal non-invasive screening tool for patients with NAFLD and MAFLD risk factors.

Preliminary study on individual radiation dose received by medical staff for dose constraint determination.

The staff of the Radiation Protection Service of a European clinical center measured the radiation dose by type-tested thermoluminescent dosemeter systems to which the medical staff was exposed, to assess the effectiveness of current procedures and equipment for optimalisation prompted by the requirements EU Basic Safety Standard 2013. There were three participating sites, the Site 1 was an external hospital, whereas Sites 2 and 3 are part of the same clinical center, who provided data regarding their personnel, from technologists, nurses and medical doctors. In this preliminary study, only a low number of cases were available and used to establish a new, more realistic yearly dose constraint, namely 6 (from two) mSv for whole-body effective dose, 15 (from two) mSv for eye lens dose and 300 (from 50) mSv for extremity dose. Furthermore, the state of safety culture and protection equipment was assessed. Collection of the sufficient amount of data for statistical evaluation is ongoing.

Evaluation of Artificial Intelligence-Calculated Hepatorenal Index for Diagnosing Mild and Moderate Hepatic Steatosis in Non-Alcoholic Fatty Liver Disease.

Background and Objectives: This study aims to evaluate artificial intelligence-calculated hepatorenal index (AI-HRI) as a diagnostic method for hepatic steatosis. Materials and Methods: We prospectively enrolled 102 patients with clinically suspected non-alcoholic fatty liver disease (NAFLD). All patients had a quantitative ultrasound (QUS), including AI-HRI, ultrasound attenuation coefficient (AC,) and ultrasound backscatter-distribution coefficient (SC) measurements. The ultrasonographic fatty liver indicator (US-FLI) score was also calculated. The magnetic resonance imaging fat fraction (MRI-PDFF) was the reference to classify patients into four grades of steatosis: none < 5%, mild 5-10%, moderate 10-20%, and severe ≥ 20%. We compared AI-HRI between steatosis grades and calculated Spearman's correlation (rs) between the methods. We determined the agreement between AI-HRI by two examiners using the intraclass correlation coefficient (ICC) of 68 cases. We performed a receiver operating characteristics (ROC) analysis to estimate the area under the curve (AUC) for AI-HRI. Results: The mean AI-HRI was 2.27 (standard deviation, ±0.96) in the patient cohort. The AI-HRI was significantly different between groups without (1.480 ± 0.607, p < 0.003) and with mild steatosis (2.155 ± 0.776), as well as between mild and moderate steatosis (2.777 ± 0.923, p < 0.018). AI-HRI showed moderate correlation with AC (rs = 0.597), SC (rs = 0.473), US-FLI (rs = 0.5), and MRI-PDFF (rs = 0.528). The agreement in AI-HRI was good between the two examiners (ICC = 0.635, 95% confidence interval (CI) = 0.411-0.774, p < 0.001). The AI-HRI could detect mild steatosis (AUC = 0.758, 95% CI = 0.621-0.894) with fair and moderate/severe steatosis (AUC = 0.803, 95% CI = 0.721-0.885) with good accuracy. However, the performance of AI-HRI was not significantly different (p < 0.578) between the two diagnostic tasks. Conclusions: AI-HRI is an easy-to-use, reproducible, and accurate QUS method for diagnosing mild and moderate hepatic steatosis.

Focal Liver Lesion MRI Feature Identification Using Efficientnet and MONAI: A Feasibility Study.

Liver tumors constitute a major part of the global disease burden, often making regular imaging follow-up necessary. Recently, deep learning (DL) has increasingly been applied in this research area. How these methods could facilitate report writing is still a question, which our study aims to address by assessing multiple DL methods using the Medical Open Network for Artificial Intelligence (MONAI) framework, which may provide clinicians with preliminary information about a given liver lesion. For this purpose, we collected 2274 three-dimensional images of lesions, which we cropped from gadoxetate disodium enhanced T1w, native T1w, and T2w magnetic resonance imaging (MRI) scans. After we performed training and validation using 202 and 65 lesions, we selected the best performing model to predict features of lesions from our in-house test dataset containing 112 lesions. The model (EfficientNetB0) predicted 10 features in the test set with an average area under the receiver operating characteristic curve (standard deviation), sensitivity, specificity, negative predictive value, positive predictive value of 0.84 (0.1), 0.78 (0.14), 0.86 (0.08), 0.89 (0.08) and 0.71 (0.17), respectively. These results suggest that AI methods may assist less experienced residents or radiologists in liver MRI reporting of focal liver lesions.

Endovascular embolization as a treatment for symptomatic adenomyosis - results of preliminary study.

OBJECTIVES: To present preliminary results of minimally invasive endovascular embolization as a treatment of symptomatic adenomyosis or adenomyosis with fibroids and to assess the long-term clinical outcome. MATERIAL AND METHODS: Between 2015 and 2020 twelve patients with symptomatic adenomyosis or adenomyosis with fibroids underwent uterine artery embolization (UAE). All patients were evaluated in terms of patient's overall satisfaction, relief of clinical symptoms, reintervention and hysterectomy as well as menopause rates. RESULTS: Mean age on admission was 48 years. Reported symptoms included: dysmenorrhea with the mean VAS score of 7.8, menorrhagia and problems with urination. Successful embolization was achieved in all patients (100%). A reduction in pelvic pain intensity assessed using VAS was observed in 11/12 (92%) of the patients - pain decreased by 6.2 points on average (from 7.8 to 1.6 pts). In one patient (8%) the recurrence of pain was observed. All patients reported decrease of menstrual bleeding and consequently improvement of everyday life quality. Avoidance of hysterectomy was achieved in 83% of the women. Five patients experience absence of menstrual periods for at least 12 months after the embolization resulting in menopause rate of 42%. Ten patients (83%) reported to be very or fairly satisfied with the results and would recommend this treatment to a friend. CONCLUSIONS: Uterine artery embolization might be safe and effective method of treatment for patients with symptomatic adenomyosis with or without fibroids with very high rate of satisfied patients.

Diagnosis of focal liver lesions with deep learning-based multi-channel analysis of hepatocyte-specific contrast-enhanced magnetic resonance imaging.

BACKGROUND: The nature of input data is an essential factor when training neural networks. Research concerning magnetic resonance imaging (MRI)-based diagnosis of liver tumors using deep learning has been rapidly advancing. Still, evidence to support the utilization of multi-dimensional and multi-parametric image data is lacking. Due to higher information content, three-dimensional input should presumably result in higher classification precision. Also, the differentiation between focal liver lesions (FLLs) can only be plausible with simultaneous analysis of multi-sequence MRI images. AIM: To compare diagnostic efficiency of two-dimensional (2D) and three-dimensional (3D)-densely connected convolutional neural networks (DenseNet) for FLLs on multi-sequence MRI. METHODS: We retrospectively collected T2-weighted, gadoxetate disodium-enhanced arterial phase, portal venous phase, and hepatobiliary phase MRI scans from patients with focal nodular hyperplasia (FNH), hepatocellular carcinomas (HCC) or liver metastases (MET). Our search identified 71 FNH, 69 HCC and 76 MET. After volume registration, the same three most representative axial slices from all sequences were combined into four-channel images to train the 2D-DenseNet264 network. Identical bounding boxes were selected on all scans and stacked into 4D volumes to train the 3D-DenseNet264 model. The test set consisted of 10-10-10 tumors. The performance of the models was compared using area under the receiver operating characteristic curve (AUROC), specificity, sensitivity, positive predictive values (PPV), negative predictive values (NPV), and f1 scores. RESULTS: The average AUC value of the 2D model (0.98) was slightly higher than that of the 3D model (0.94). Mean PPV, sensitivity, NPV, specificity and f1 scores (0.94, 0.93, 0.97, 0.97, and 0.93) of the 2D model were also superior to metrics of the 3D model (0.84, 0.83, 0.92, 0.92, and 0.83). The classification metrics of FNH were 0.91, 1.00, 1.00, 0.95, and 0.95 using the 2D and 0.90, 0.90, 0.95, 0.95, and 0.90 using the 3D models. The 2D and 3D networks' performance in the diagnosis of HCC were 1.00, 0.80, 0.91, 1.00, and 0.89 and 0.88, 0.70, 0.86, 0.95, and 0.78, respectively; while the evaluation of MET lesions resulted in 0.91, 1.00, 1.00, 0.95, and 0.95 and 0.75, 0.90, 0.94, 0.85, and 0.82 using the 2D and 3D networks, respectively. CONCLUSION: Both 2D and 3D-DenseNets can differentiate FNH, HCC and MET with good accuracy when trained on hepatocyte-specific contrast-enhanced multi-sequence MRI volumes.

Incidence of and predisposing factors for pseudoaneurysm formation in a high-volume cardiovascular center.

PURPOSE: To evaluate factors associated with pseudoaneurysm (PSA) development. METHODS: Between January 2016 and May 2020, 30,196 patients had invasive vascular radiological or cardiac endovascular procedures that required arterial puncture. All patients with PSA were identified. A matched (age, gender, and type of the procedure) control group of 134 patients was created to reveal predictors of PSA formation. RESULTS: Single PSAs were found in 134 patients. Fifty-three PSAs developed after radiological procedures (53/6555 [0.8%]), 31 after coronary artery procedures (31/18038 [0.2%]), 25 after non-coronary artery cardiac procedures (25/5603 [0.4%]), and 25 due to procedures in which the arterial puncture was unintended. Thirty-four PSAs (25.4%) were localized to the upper extremity arteries (vascular closure device [VCD], N = 0), while 100 (74.6%) arose from the lower extremity arteries (VCD, N = 37). The PSA prevalence was 0.05% (10/20478) in the radial artery, 0.1% (2/1818) in the ulnar artery, 1.2% (22/1897) in the brachial artery, and 0.4% (99/22202) in the femoral artery. Treatments for upper and lower limb PSAs were as follows: bandage replacement (32.4% and 14%, respectively), ultrasound-guided compression (11.8% and 1%, respectively), ultrasound-guided thrombin injection (38.2% and 78%, respectively), and open surgery (17.6% and 12%, respectively). Reintervention was necessary in 19 patients (14.2%). The prevalence of PSA for the punctured artery with and without VCD use was 37/3555 (1%) and 97/27204 (0.4%), respectively (OR, 2.94; 95% CI, 1.95-4.34; P<0.001). The effect of red blood cell (RBC) count (P<0.001), hematocrit value (P<0.001), hemoglobin value (P<0.001), international normalized ratio (INR; P<0.001), RBC count-INR interaction (P = 0.003), and RBC count-VCD use interaction (P = 0.036) on PSA formation was significant. CONCLUSION: Patients in whom the puncture site is closed with a VCD require increased observation. Preprocedural laboratory findings are useful for the identification of patients at high risk of PSA formation.

Clinical outcome and analysis of procedural failure during uterine artery chemoembolisation as a treatment of caesarean scar pregnancy.

INTRODUCTION: Caesarean scar pregnancy (CSP) is a relatively rare yet life-threatening condition in which the embryo is implanted in the scar after caesarean section. Recent studies have reported that uterine artery chemoembolisation (UAC) can be safe and effective method in treating CSP. AIM: To present the clinical outcome of UAC with a mixture of methotrexate and gelatine sponge for the treatment of CSP and analysis of procedural failure. MATERIAL AND METHODS: Forty-one patients diagnosed with CSP were treated with selective endovascular chemoembolisation of uterine arteries. Short- and long-term results, reasons for procedural failure, and clinical outcome were analysed. RESULTS: Primary procedure failed in 7 out of 41 (17%) cases. In 4 cases additional blood supply to the CSP was disclosed; 3 out of 4 from an ovarian artery and one from a superior vesical artery. In other 3 patients, reperfusion of uterine arteries was observed. All these 7 patients underwent successful secondary embolisation. The majority of the followed-up patients reported regular menses after the intervention. Four women suffered from amenorrhoea and 2 from hypomenorrhoea that continued after 90 days. Twelve patients expressed the desire for subsequent pregnancy. From this group, 5 conceived within a year of the procedure. The rest did not achieve a pregnancy. CONCLUSIONS: UAC proved to be a safe and effective method and should be considered as an option for CSP treatment, especially for women hoping to preserve their fertility. However, the presence of collateral blood supply should always be considered.

Early and long-term results of the endovascular treatment of patients with isolated infrarenal aortic stenosis.

OBJECTIVE: The purpose of this study was to report our results of patients' characteristics, procedural complications, and long-term patency in treatment of isolated infrarenal aortic stenosis (IIAS). METHODS: Forty symptomatic patients (28 female, 12 male; median age, 60 years [54.8-68 years]) with IIAS who underwent endovascular intervention between 2001 and 2017 were retrospectively analyzed. Patient, lesion, procedure, and balloon/stent characteristics were assessed. Follow-up included clinical status evaluation and color Doppler ultrasound examination. RESULTS: The cause of IIAS was atherosclerosis in all patients. Twenty percent of the patients were younger than 50 years; 85% had hypertension, 80% were smokers, 38% had hyperlipidemia, 23% had diabetes mellitus, 15% were obese (body mass index ≥30 kg/m2), and 8% had chronic kidney disease. The median stenosis grade was 80% (70%-80%), and the median lesion length was 19.9 mm (13-29.4 mm). Severe calcification was present in 8% of the patients. Percutaneous transluminal angioplasty was performed in four cases (10%), whereas stenting was performed in 36 (90%). One complication, an aortic rupture requiring surgical repair, occurred. The median follow-up was 61 months (17-101 months). The primary patency rate was 100% at 6 months, 97% at 12 and 24 months, and 88% at 60 and 96 months. Restenosis developed in three patients (8%); reintervention was carried out in two cases (5%). CONCLUSIONS: Endovascular therapy for IIAS provides a safe and effective long-term treatment strategy.

Three-dimensional CT texture analysis of anatomic liver segments can differentiate between low-grade and high-grade fibrosis.

BACKGROUND: CT texture analysis (CTTA) has been successfully used to assess tissue heterogeneity in multiple diseases. The purpose of this work is to demonstrate the value of three-dimensional CTTA in the evaluation of diffuse liver disease. We aimed to develop CTTA based prediction models, which can be used for staging of fibrosis in different anatomic liver segments irrespective of variations in scanning parameters. METHODS: We retrospectively collected CT scans of thirty-two chronic hepatitis patients with liver fibrosis. The CT examinations were performed on either a 16- or a 64-slice scanner. Altogether 354 anatomic liver segments were manually highlighted on portal venous phase images, and 1117 three-dimensional texture parameters were calculated from each segment. The segments were divided between groups of low-grade and high-grade fibrosis using shear-wave elastography. The highly-correlated features (Pearson r > 0.95) were filtered out, and the remaining 453 features were normalized and used in a classification with k-means and hierarchical cluster analysis. The segments were split between the train and test sets in equal proportion (analysis I) or based on the scanner type (analysis II) into 64-slice train 16-slice validation cohorts for machine learning classification, and a subset of highly prognostic features was selected with recursive feature elimination. RESULTS: A classification with k-means and hierarchical cluster analysis divided segments into four main clusters. The average CT density was significantly higher in cluster-4 (110 HU ± SD = 10.1HU) compared to the other clusters (c1: 96.1 HU ± SD = 11.3HU; p < 0.0001; c2: 90.8 HU ± SD = 16.8HU; p < 0.0001; c3: 93.1 HU ± SD = 17.5HU; p < 0.0001); but there was no difference in liver stiffness or scanner type among the clusters. The optimized random forest classifier was able to distinguish between low-grade and high-grade fibrosis with excellent cross-validated accuracy in both the first and second analysis (AUC = 0.90, CI = 0.85-0.95 vs. AUC = 0.88, CI = 0.84-0.91). The final support vector machine model achieved an excellent prediction rate in the second analysis (AUC = 0.91, CI = 0.88-0.94) and an acceptable prediction rate in the first analysis (AUC = 0.76, CI = 0.67-0.84). CONCLUSIONS: In conclusion, CTTA-based models can be successfully applied to differentiate high-grade from low-grade fibrosis irrespective of the imaging platform. Thus, CTTA may be useful in the non-invasive prognostication of patients with chronic liver disease.

Interobserver agreement and diagnostic accuracy of shearwave elastography for the staging of hepatitis C virus-associated liver fibrosis.

PURPOSE: Our study aimed to evaluate the technical success rate, interobserver reproducibility, and accuracy of shearwave elastography (SWE) in the staging of hepatitis C virus (HCV)-associated liver fibrosis. METHODS: A total of 10 healthy controls and 49 patients with chronic liver disease were enrolled prospectively. Two examiners performed point shearwave elastography (pSWE) and two-dimensional shearwave elastography (2D-SWE) measurements with an RS85A ultrasound scanner using the S-Shearwave application (Samsung Medison, Hongcheon, Korea). The performance of S-Shearwave in the staging (METAVIR F0-F4) of liver fibrosis was compared with prior transient elastography (TE) with receiver operating characteristic (ROC) curve analysis. RESULTS: The interobserver reproducibility was excellent with pSWE (ICC = 0.92, 95% CI: 0.86-0.95, P < .001). A very good agreement was found between pSWE and TE measurements (ICC =0.85, 95% CI: 0.78-0.89, P < .001). The ROC analysis determined the optimal cut-off values of pSWE for the staging of chronic hepatitis C-associated fibrosis (F2, 1.46 m/s; F3, 1.63 m/s; F4, 1.95 m/s). Both observers achieved excellent diagnostic accuracy (AUROC: 94% vs 97%) in the detection of significant (≥F2) liver fibrosis. CONCLUSION: The interobserver agreement is excellent with S-Shearwave pSWE, and observers can diagnose significant liver fibrosis with a comparable accuracy to TE.

[Potential applications of deep learning-based technologies in Hungarian mammography]. / A számítógépes mélytanulási technológia várható megjelenése a hazai mammográfiában.

INTRODUCTION AND AIM: The technology, named 'deep learning' is the promising result of the last two decades of development in computer science. It poses an unavoidable challenge for medicine, how to understand, apply and adopt the - today not fully explored - possibilities that have become available by these new methods. METHOD: It is a gift and a mission, since the exponentially growing volume of raw data (from imaging, laboratory, therapy diagnostics or therapy interactions, etc.) did not solve until now our wished and aimed goal to treat patients according to their personal status and setting or specific to their tumor and disease. RESULTS: Currently, as a responsible health care provider and financier, we face the problem of supporting suboptimal procedures and protocols either at individual or at community level. The problem roots in the overwhelming amount of data and, at the same time, the lack of targeted information for treatment. We expect from the deep learning technology an aid which helps to reinforce and extend the human-human cooperations in patient-doctor visits. We expect that computers take over the tedious work allowing to revive the core of healing medicine: the insightful meeting and discussion between patients and medical experts. CONCLUSION: We should learn the revelational possibilities of deep learning techniques that can help to overcome our recognized finite capacities in data processing and integration. If we, doctors and health care providers or decision makers, are able to abandon our fears and prejudices, then we can utilize this new tool not only in imaging diagnostics but also for daily therapies (e.g., immune therapy). The paper aims to make a great mind to do this. Orv Hetil. 2019; 160(4): 138-143.

Environmental Factors Responsible for Variability of Hepatic Vein Flow: A Doppler Assessment in Healthy Twins.

Doppler interrogation studies of the liver blood flow indicate altered hepatic vein waveforms in association with impaired hepatocellular function. However, little is known about the mechanisms responsible for variations of these parameters in the absence of disease. We aimed to investigate the contribution of heritable and environmental factors to the physiological variability of hepatic vein flow in a twin cohort. Two hundred twenty-eight healthy adult Hungarian twins (69 monozygotic, 45 same-sex dizygotic pairs) underwent Doppler sonography of the hepatic vein. Age- and sex-adjusted heritability of the highest velocity (amplitude of S wave) of hepatic vein flow was negligible. Shared environment contributed to 33% (95% CI, 16%-51%), and unshared environment was responsible for the largest portion (67%; 95% CI, 49%-84%) of the variance. Duration of sports activities was significantly (P < 0.05) related to the magnitude of hepatic vein flow, while other risk factors and lifestyle characteristics had no significant influence. The data suggest that genetic factors have little impact on the parameters of hepatic venous blood flow. The variability observed in healthy twins by the Doppler interrogation can be explained by the effect of unshared environmental components primarily related to regular physical activity. These findings underscore the importance of unique environments in physiological variations of hepatic venous blood flow.

Genetic and Environmental Effects on the Abdominal Aortic Diameter Development / Efeitos Genéticos e Ambientais no Desenvolvimento do Diâmetro da Aorta Abdominal

Abstract Background: Configuration of the abdominal aorta is related to healthy aging and a variety of disorders. Objectives: We aimed to assess heritable and environmental effects on the abdominal aortic diameter. Methods: 114 adult (69 monozygotic, 45 same-sex dizygotic) twin pairs (mean age 43.6 ± 16.3 years) underwent abdominal ultrasound with Esaote MyLab 70X ultrasound machine to visualize the abdominal aorta below the level of the origin of the renal arteries and 1-3 cm above the bifurcation. Results: Age- and sex-adjusted heritability of the abdominal aortic diameter below the level of the origin of the renal arteries was 40% [95% confidence interval (CI), 14 to 67%] and 55% above the aortic bifurcation (95% CI, 45 to 70%). None of the aortic diameters showed common environmental effects, but unshared environmental effects were responsible for 60% and 45% of the traits, respectively. Conclusions: Our analysis documents the moderate heritability and its segment-specific difference of the abdominal aortic diameter. The moderate part of variance was explained by unshared environmental components, emphasizing the importance of lifestyle factors in primary prevention. Further studies in this field may guide future gene-mapping efforts and investigate specific lifestyle factors to prevent abdominal aortic dilatation and its complications.

Resumo Fundamento: A configuração da aorta abdominal relaciona-se com o envelhecimento saudável e uma série de distúrbios. Objetivos: Avaliar efeitos herdáveis e ambientais no diâmetro da aorta abdominal. Métodos: 114 pares de gêmeos adultos (69 monozigóticos e 45 dizigóticos do mesmo sexo), com idade média de 43,6 ± 16,3 anos, foram submetidos a ultrassonografia abdominal com o aparelho Esaote MyLab 70X para visualização da aorta abdominal abaixo da origem das artérias renais e 1-3 cm acima da bifurcação aórtica. Resultados: A herdabilidade ajustada para idade e sexo do diâmetro da aorta abdominal abaixo da origem das artérias renais foi 40% [intervalo de confiança (IC) 95%, 14 – 67%] e acima da bifurcação, 55% (IC 95%, 45 – 70%). Nenhum dos diâmetros aórticos apresentou efeitos ambientais comuns, mas os efeitos ambientais não compartilhados foram responsáveis por 60% e 45% dos traços, respectivamente. Conclusões: Nossa análise mostrou herdabilidade moderada e diferença do diâmetro da aorta abdominal com especificidade de segmento. A parte moderada da variância foi explicada pelo componente ambiental não compartilhado, enfatizando a importância do estilo de vida na prevenção primária. Estudos adicionais nesse campo poderão guiar futuros esforços de mapeamento genético e investigar fatores específicos de estilo de vida para prevenir dilatação da aorta abdominal e suas complicações.

Genetic and Environmental Effects on the Abdominal Aortic Diameter Development.

BACKGROUND: Configuration of the abdominal aorta is related to healthy aging and a variety of disorders. OBJECTIVES: We aimed to assess heritable and environmental effects on the abdominal aortic diameter. METHODS: 114 adult (69 monozygotic, 45 same-sex dizygotic) twin pairs (mean age 43.6 ± 16.3 years) underwent abdominal ultrasound with Esaote MyLab 70X ultrasound machine to visualize the abdominal aorta below the level of the origin of the renal arteries and 1-3 cm above the bifurcation. RESULTS: Age- and sex-adjusted heritability of the abdominal aortic diameter below the level of the origin of the renal arteries was 40% [95% confidence interval (CI), 14 to 67%] and 55% above the aortic bifurcation (95% CI, 45 to 70%). None of the aortic diameters showed common environmental effects, but unshared environmental effects were responsible for 60% and 45% of the traits, respectively. CONCLUSIONS: Our analysis documents the moderate heritability and its segment-specific difference of the abdominal aortic diameter. The moderate part of variance was explained by unshared environmental components, emphasizing the importance of lifestyle factors in primary prevention. Further studies in this field may guide future gene-mapping efforts and investigate specific lifestyle factors to prevent abdominal aortic dilatation and its complications.

Genetic and environmental influence on thyroid gland volume and thickness of thyroid isthmus: a twin study

Objectives Decreased thyroid volume has been related to increased prevalence of thyroid cancer. Subjects and methods One hundred and fourteen Hungarian adult twin pairs (69 monozygotic, 45 dizygotic) with or without known thyroid disorders underwent thyroid ultrasound. Thickness of the thyroid isthmus was measured at the thickest portion of the gland in the midline using electronic calipers at the time of scanning. Volume of the thyroid lobe was computed according to the following formula: thyroid height*width*depth*correction factor (0.63). Results Age-, sex-, body mass index- and smoking-adjusted heritability of the thickness of thyroid isthmus was 50% (95% confidence interval [CI], 35 to 66%). Neither left nor right thyroid volume showed additive genetic effects, but shared environments were 68% (95% CI, 48 to 80%) and 79% (95% CI, 72 to 87%), respectively. Magnitudes of monozygotic and dizygotic co-twin correlations were not substantially impacted by the correction of covariates of body mass index and smoking. Unshared environmental effects showed a moderate influence on dependent parameters (24-50%). Conclusions Our analysis support that familial factors are important for thyroid measures in a general twin population. A larger sample size is needed to show whether this is because of common environmental (e.g. intrauterine effects, regional nutrition habits, iodine supply) or genetic effects.

Genetic and environmental influence on thyroid gland volume and thickness of thyroid isthmus: a twin study.

OBJECTIVES: Decreased thyroid volume has been related to increased prevalence of thyroid cancer. SUBJECTS AND METHODS: One hundred and fourteen Hungarian adult twin pairs (69 monozygotic, 45 dizygotic) with or without known thyroid disorders underwent thyroid ultrasound. Thickness of the thyroid isthmus was measured at the thickest portion of the gland in the midline using electronic calipers at the time of scanning. Volume of the thyroid lobe was computed according to the following formula: thyroid height*width*depth*correction factor (0.63). RESULTS: Age-, sex-, body mass index- and smoking-adjusted heritability of the thickness of thyroid isthmus was 50% (95% confidence interval [CI], 35 to 66%). Neither left nor right thyroid volume showed additive genetic effects, but shared environments were 68% (95% CI, 48 to 80%) and 79% (95% CI, 72 to 87%), respectively. Magnitudes of monozygotic and dizygotic co-twin correlations were not substantially impacted by the correction of covariates of body mass index and smoking. Unshared environmental effects showed a moderate influence on dependent parameters (24-50%). CONCLUSIONS: Our analysis support that familial factors are important for thyroid measures in a general twin population. A larger sample size is needed to show whether this is because of common environmental (e.g. intrauterine effects, regional nutrition habits, iodine supply) or genetic effects.

Modest genetic influence on bronchodilator response: a study in healthy twins.

AIM: To determine the reasons for large standard deviation of bronchodilator response (BDR) and establish whether there is a potential heritable component in healthy subjects. METHODS: 67 monozygotic and 42 dizygotic adult twin pairs were assessed for bronchodilator response (% change in FEV1 after inhaling 400 µg salbutamol). Univariate quantitative genetic modeling was performed. RESULTS: Multiple regression modeling showed a significant association between BDR and sex and baseline FEV1 (P<0.05), while no association was found with smoking habits, body mass index, or age. Within pair correlation in monozygotic twins was modest (0.332), but higher than in dizygotic twins (0.258). Age-, sex-, and baseline FEV1-adjusted genetic effect accounted for 14.9% (95% confidence interval, CI 0%-53.1%) of the variance of BDR, shared environmental effect for 18.4% (95% CI 0%-46.8%), and unshared environmental effect for 66.8% (95% CI 46.8%-88.7%). CONCLUSION: Our twin study showed that individual differences in BDR can be mostly explained by unshared environmental effects. In addition, it is the first study to show low, insignificant hereditary influences, independently from sex, age, and baseline FEV1.