Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
3.6
2.6
Journals
Medicina
Special Issues
Twin Studies and Imaging
share announcement

Twin Studies and Imaging

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Genetics and Molecular Medicine".

Deadline for manuscript submissions: closed (20 December 2023) | Viewed by 12163

Special Issue Editors

Dr. David Laszlo Tarnoki

E-Mail Website
Guest Editor
Medical Imaging Centre, Semmelweis University, 78/A Üllői Street, 1082 Budapest, Hungary
Interests: imaging; twin research; genetics; epigenetics; radiology
Special Issues, Collections and Topics in MDPI journals
Dr. Adam Domonkos Tarnoki

E-Mail Website
Guest Editor
Medical Imaging Centre, Semmelweis University, 78/A Üllői Street, 1082 Budapest, Hungary
Interests: imaging; twin research; genetics; epigenetics; radiology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Medicina is preparing a Special Issue in 2022 to collect original manuscripts on recent findings in twin research and imaging following the successful Special Issue entitled “A Focus on Twin Studies" in 2021. Twin studies provide a valuable source of information for health and psychological research, as their unique relationship allows researchers to examine the role of genetic, epigenetic and environmental factors. Gene–environment interaction studies, studies in discordant monozygotic twins that help to explore the role of epigenetic, environmental factors, as well as microbiome in the development of various complex diseases. In addition, diagnostic radiology imaging provides morphological and functional information on diseases, including computed tomography (CT), digital radiography (X-ray), ultrasound, magnetic resonance imaging (MRI), radiographic fluoroscopy (R/F), mammography, angiography, molecular imaging, and nuclear medicine. Therefore, this Special Issue will summarize the latest, most interesting results of twin and imaging studies in various fields in a multidisciplinary point of view, which will be published in 2023. For all technical details, please see the instructions to authors on the website of the publisher, MDPI (https://www.mdpi.com/journal/medicina/instructions).

Dr. David Laszlo Tarnoki
Dr. Adam Domonkos Tarnoki
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Medicina is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • twin research
  • genetics
  • epigenetics
  • molecular imaging
  • computed tomography
  • ultrasound
  • magnetic resonance imaging
  • radiograph
  • mammography
  • nuclear medicine

Published Papers (7 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Editorial

Jump to: Research, Review

2 pages, 228 KiB  
Editorial
Twin Research and Imaging
by David Laszlo Tarnoki and Adam Domonkos Tarnoki
Medicina 2022, 58(6), 805; https://doi.org/10.3390/medicina58060805 - 15 Jun 2022
Cited by 1 | Viewed by 1241
Abstract
Twins have been the focus of scientific research for more than a century [...] Full article
(This article belongs to the Special Issue Twin Studies and Imaging)

Research

Jump to: Editorial, Review

18 pages, 5809 KiB  
Article
Analysis of Genetic and MRI Changes, Blood Markers, and Risk Factors in a Twin Pair Discordant of Progressive Supranuclear Palsy
by Aliz Persely, Beatrix Beszedics, Krisztina Paloczi, Marton Piroska, Amirreza Alijanpourotaghsara, David Strelnikov, Arsalan Vessal, Helga Szabo, Anita Hernyes, Luca Zoldi, Zsofia Jokkel, Andrea Fekete, Janos Juhasz, Nora Makra, Dora Szabo, Edit Buzas, Adam Domonkos Tarnoki and David Laszlo Tarnoki
Medicina 2023, 59(10), 1696; https://doi.org/10.3390/medicina59101696 - 22 Sep 2023
Viewed by 1271
Abstract
Background and Objectives: Progressive supranuclear palsy (PSP) is a neurodegenerative disease, a tauopathy, which results in a wide clinical spectrum of neurological symptoms. The diagnosis is mostly based on clinical signs and neuroimaging; however, possible biomarkers for screening have been under investigation, [...] Read more.
Background and Objectives: Progressive supranuclear palsy (PSP) is a neurodegenerative disease, a tauopathy, which results in a wide clinical spectrum of neurological symptoms. The diagnosis is mostly based on clinical signs and neuroimaging; however, possible biomarkers for screening have been under investigation, and the role of the gut microbiome is unknown. The aim of our study was to identify potential blood biomarkers and observe variations in the gut microbiome within a PSP discordant monozygotic twin pair. Materials and Methods: Anthropometric measurements, neuropsychological tests, and the neurological state were evaluated. Blood was collected for metabolic profiling and for the detection of neurodegenerative and vascular biomarkers. Both the gut microbiome and brain MRI results were thoroughly examined. Results: We found a relevant difference between alpha-synuclein levels and moderate difference in the levels of MMP-2, MB, Apo-A1, Apo-CIII, and Apo-H. With respect to the ratios, a small difference was observed for ApoA1/SAA and ApoB/ApoA1. Using a microbiome analysis, we also discovered a relative dysbiosis, and the MRI results revealed midbrain and frontoparietal cortical atrophy along with a reduction in overall brain volumes and an increase in white matter lesions in the affected twin. Conclusions: We observed significant differences between the unaffected and affected twins in some risk factors and blood biomarkers, along with disparities in the gut microbiome. Additionally, we detected abnormalities in brain MRI results and alterations in cognitive functions. Full article
(This article belongs to the Special Issue Twin Studies and Imaging)
►▼ Show Figures

Figure 1

13 pages, 1308 KiB  
Article
Assessment of Characteristics of Imaging Biomarkers for Quantifying Anterior Cingulate Cortex Changes: A Twin Study of Middle- to Advanced-Aged Populations in East Asia
by Hiroto Takahashi, Yoshiyuki Watanabe, Tomoki Hirakawa, Hisashi Tanaka, Noriyuki Tomiyama, Yuta Koto, Norio Sakai and Osaka Twin Research Group
Medicina 2022, 58(12), 1855; https://doi.org/10.3390/medicina58121855 - 16 Dec 2022
Viewed by 1376
Abstract
Background and Objectives: Our aim was to assess genetic and environmental effects on surface morphological parameters for quantifying anterior cingulate cortex (ACC) changes in middle- to advanced-age East Asians using twin analysis. Materials and Methods: Normal twins over 39 years old [...] Read more.
Background and Objectives: Our aim was to assess genetic and environmental effects on surface morphological parameters for quantifying anterior cingulate cortex (ACC) changes in middle- to advanced-age East Asians using twin analysis. Materials and Methods: Normal twins over 39 years old comprising 37 monozygotic pairs and 17 dizygotic pairs underwent 3-dimensional (3D) T1-weighted imaging of the brain at 3T. Freesurfer-derived ACC parameters including thickness, standard deviation of thickness (STDthickness), volume, surface area, and sulcal morphological parameters (folding, mean, and Gaussian curvatures) were calculated from 3D T1-weighted volume images. Twin analysis with a model involving phenotype variance components of additive genetic effects (A), common environmental effects (C), and unique environmental effects (E) was performed to assess the magnitude of each genetic and environmental influence on parameters. Results: Most parameters fit best with an AE model. Both thickness (A: left 0.73/right 0.71) and surface area (A: left 0.63/right 0.71) were highly heritable. STDthickness was low to moderately heritable (A: left 0.48/right 0.29). Volume was moderately heritable (A: left 0.37). Folding was low to moderately heritable (A: left 0.44/right 0.28). Mean curvature (A: left 0.37/right 0.65) and Gaussian curvature (A: right 0.79) were moderately to highly heritable. Right volume and left Gaussian curvature fit best with a CE model, indicating a relatively weak contribution of genetic factors to these parameters. Conclusions: When assessing ACC changes in middle- to advanced-age East Asians, one must keep in mind that thickness and surface area appear to be strongly affected by genetic factors, whereas sulcal morphological parameters tend to involve environmental factors. Full article
(This article belongs to the Special Issue Twin Studies and Imaging)
►▼ Show Figures

Figure 1

14 pages, 4201 KiB  
Article
Heritability of Subcortical Grey Matter Structures
by David Strelnikov, Amirreza Alijanpourotaghsara, Marton Piroska, Laszlo Szalontai, Bianka Forgo, Zsofia Jokkel, Alíz Persely, Anita Hernyes, Lajos Rudolf Kozak, Adam Szabo, Pal Maurovich-Horvat, David Laszlo Tarnoki and Adam Domonkos Tarnoki
Medicina 2022, 58(11), 1687; https://doi.org/10.3390/medicina58111687 - 21 Nov 2022
Viewed by 2571
Abstract
Background and Objectives: Subcortical grey matter structures play essential roles in cognitive, affective, social, and motoric functions in humans. Their volume changes with age, and decreased volumes have been linked with many neuropsychiatric disorders. The aim of our study was to examine [...] Read more.
Background and Objectives: Subcortical grey matter structures play essential roles in cognitive, affective, social, and motoric functions in humans. Their volume changes with age, and decreased volumes have been linked with many neuropsychiatric disorders. The aim of our study was to examine the heritability of six subcortical brain volumes (the amygdala, caudate nucleus, pallidum, putamen, thalamus, and nucleus accumbens) and four general brain volumes (the total intra-cranial volume and the grey matter, white matter, and cerebrospinal fluid (CSF) volume) in twins. Materials and Methods: A total of 118 healthy adult twins from the Hungarian Twin Registry (86 monozygotic and 32 dizygotic; median age 50 ± 27 years) underwent brain magnetic resonance imaging. Two automated volumetry pipelines, Computational Anatomy Toolbox 12 (CAT12) and volBrain, were used to calculate the subcortical and general brain volumes from three-dimensional T1-weighted images. Age- and sex-adjusted monozygotic and dizygotic intra-pair correlations were calculated, and the univariate ACE model was applied. Pearson’s correlation test was used to compare the results obtained by the two pipelines. Results: The age- and sex-adjusted heritability estimates, using CAT12 for the amygdala, caudate nucleus, pallidum, putamen, and nucleus accumbens, were between 0.75 and 0.95. The thalamus volume was more strongly influenced by common environmental factors (C = 0.45−0.73). The heritability estimates, using volBrain, were between 0.69 and 0.92 for the nucleus accumbens, pallidum, putamen, right amygdala, and caudate nucleus. The left amygdala and thalamus were more strongly influenced by common environmental factors (C = 0.72−0.85). A strong correlation between CAT12 and volBrain (r = 0.74−0.94) was obtained for all volumes. Conclusions: The majority of examined subcortical volumes appeared to be strongly heritable. The thalamus was more strongly influenced by common environmental factors when investigated with both segmentation methods. Our results underline the importance of identifying the relevant genes responsible for variations in the subcortical structure volume and associated diseases. Full article
(This article belongs to the Special Issue Twin Studies and Imaging)
►▼ Show Figures

Figure 1

11 pages, 968 KiB  
Article
Genetic and Environmental Effects on the Development of White Matter Hyperintensities in a Middle Age Twin Population
by Amirreza Alijanpourotaghsara, David Strelnikov, Marton Piroska, Laszlo Szalontai, Bianka Forgo, Zsofia Jokkel, Alíz Persely, Anita Hernyes, Lajos Rudolf Kozak, Adam Szabo, Pal Maurovich-Horvat, Adam Domonkos Tarnoki and David Laszlo Tarnoki
Medicina 2022, 58(10), 1425; https://doi.org/10.3390/medicina58101425 - 10 Oct 2022
Viewed by 1591
Abstract
Introduction: White matter hyperintensities (WMH) indicate white matter brain lesions in magnetic resonance imaging (MRI), which can be used as a marker for brain aging and cerebrovascular and neurodegenerative disorders. Twin studies revealed substantial but not uniform WMH heritability in elderly twins. The [...] Read more.
Introduction: White matter hyperintensities (WMH) indicate white matter brain lesions in magnetic resonance imaging (MRI), which can be used as a marker for brain aging and cerebrovascular and neurodegenerative disorders. Twin studies revealed substantial but not uniform WMH heritability in elderly twins. The objective of our study was to investigate the genetic and environmental components of WMH, as well as their importance in a healthy twin population, utilizing 3T MRI scanners in a middle-aged twin population. Methods: Brain MRI was performed on 120 healthy adult twins from the Hungarian Twin Registry on a 3T scanner (86 monozygotic, MZ and 34 dizygotic, DZ twins; median age 50 ± 26.5 years, 72.5% female and 27.5% male). The count of WMH on FLAIR images was calculated using an automated volumetry pipeline (volBrain) and human processing. The age- and sex-adjusted MZ and DZ intra-pair correlations were determined and the total variance was decomposed into genetic, shared and unique environmental components using structural equation modeling. Results: Age and sex-adjusted MZ intrapair correlations were higher than DZ correlations, indicating moderate genetic influence in each lesion (rMZ = 0.466, rDZ = −0.025 for total count; rMZ = 0.482, rDZ = 0.093 for deep white matter count; rMZ = 0.739, rDZ = 0.39 for infratentorial count; rMZ = 0.573, rDZ = 0.372 for cerebellar count and rMZ = 0.473, rDZ = 0.19 for periventricular count), indicating a moderate heritability (A = 40.3%, A = 45%, A = 72.7% and A = 55.5%and 47.2%, respectively). The rest of the variance was influenced by unique environmental effects (E between 27.3% and 59.7%, respectively). Conclusions: The number of WMH lesions is moderately influenced by genetic effects, particularly in the infratentorial region in middle-aged twins. These results suggest that the distribution of WMH in various brain regions is heterogeneous. Full article
(This article belongs to the Special Issue Twin Studies and Imaging)
►▼ Show Figures

Figure 1

9 pages, 290 KiB  
Article
Lobular Difference in Heritability of Brain Atrophy among Elderly Japanese: A Twin Study
by Soichiro Saeki, Helga Szabo, Rie Tomizawa, Adam D. Tarnoki, David L. Tarnoki, Yoshiyuki Watanabe, Osaka Twin Research Group and Chika Honda
Medicina 2022, 58(9), 1250; https://doi.org/10.3390/medicina58091250 - 09 Sep 2022
Cited by 2 | Viewed by 1381
Abstract
Background and Objectives: Brain atrophy is related to cognitive decline. However, the heritability of brain atrophy has not been fully investigated in the Eastern Asian population. Materials and Methods: Brain imaging of 74 Japanese twins registered in the Osaka University Twin [...] Read more.
Background and Objectives: Brain atrophy is related to cognitive decline. However, the heritability of brain atrophy has not been fully investigated in the Eastern Asian population. Materials and Methods: Brain imaging of 74 Japanese twins registered in the Osaka University Twin Registry was conducted with voxel-based morphometry SPM12 and was processed by individual voxel-based morphometry adjusting covariates (iVAC) toolbox. The atrophy of the measured lobes was obtained by comparing the focal volume to the average of healthy subjects. Classical twin analysis was used to measure the heritability of its z-scores. Results: The heritability of brain atrophy ranged from 0.23 to 0.97, depending upon the lobes. When adjusted to age, high heritability was reported in the frontal, frontal-temporal, and parietal lobes, but the heritability in other lobes was lower than 0.70. Conclusions: This study revealed a relatively lower heritability in brain atrophy compared to other ethnicities. This result suggests a significant environmental impact on the susceptibility of brain atrophy the Japanese. Therefore, environmental factors may have more influence on the Japanese than in other populations. Full article
(This article belongs to the Special Issue Twin Studies and Imaging)

Review

Jump to: Editorial, Research

16 pages, 424 KiB  
Review
The High-Risk Profile of Selective Growth Restriction in Monochorionic Twin Pregnancies
by Zoltan Kozinszky and Andrea Surányi
Medicina 2023, 59(4), 648; https://doi.org/10.3390/medicina59040648 - 24 Mar 2023
Cited by 3 | Viewed by 1811
Abstract
The present review aims to provide a critical appraisal of the sonographic diagnosis and follow-up and to evaluate the optimal clinical management of monochorionic twin pregnancies where one of the twins is complicated by selective fetal growth restriction (sFGR). The classification is based [...] Read more.
The present review aims to provide a critical appraisal of the sonographic diagnosis and follow-up and to evaluate the optimal clinical management of monochorionic twin pregnancies where one of the twins is complicated by selective fetal growth restriction (sFGR). The classification is based on the umbilical artery (UA) diastolic flow reflecting the outcome. If the sFGR twin has positive diastolic flow (Type I) then the prognosis is good, and it does not require close surveillance. Biweekly or weekly sonographic and Doppler surveillance and fetal monitoring are recommended strategies to detect unpredictable complications in type II and type III forms, which are defined by persistently absent/reverse end-diastolic flow (AREDF) or cyclically intermittent absent/reverse end-diastolic flow (iAREDF) in the umbilical waveforms, respectively. The latest forms are associated with an increased risk of unexpected fetal demise of the smaller twin and 10–20% risk of neurological injury in the larger twin in addition to the overall risk of prematurity. The clinical course can be affected by elective fetal therapy (‘dichorinization’ of the placenta with laser or selective fetal reduction) or elective delivery in the presence of severe fetal deterioration. The prediction of the clinical outcome in complicated cases of type II and III sFGR cases remains elusive. Novel routines in fetal and placental scans in order to predict neurological impairments and unexpected fetal death to optimize the delivery time-point are needed. Full article
(This article belongs to the Special Issue Twin Studies and Imaging)
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-7
Back to TopTop