36 results on '"Moia, S"'
Search Results
2. Brainhack: Developing a culture of open, inclusive, community-driven neuroscience
- Author
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Gau, R, Noble, S, Heuer, K, Bottenhorn, KL, Bilgin, IP, Yang, YF, Huntenburg, JM, Bayer, JMM, Bethlehem, RAI, Rhoads, SA, Vogelbacher, C, Borghesani, V, Levitis, E, Wang, HT, Van Den Bossche, S, Kobeleva, X, Legarreta, JH, Guay, S, Atay, SM, Varoquaux, GP, Huijser, DC, Sandström, MS, Herholz, P, Nastase, SA, Badhwar, AP, Dumas, G, Schwab, S, Moia, S, Dayan, M, Bassil, Y, Brooks, PP, Mancini, M, Shine, JM, O'Connor, D, Xie, X, Poggiali, D, Friedrich, P, Heinsfeld, AS, Riedl, L, Toro, R, Caballero-Gaudes, C, Eklund, A, Garner, KG, Nolan, CR, Demeter, DV, Barrios, FA, Merchant, JS, McDevitt, EA, Oostenveld, R, Craddock, RC, Rokem, A, Doyle, A, Ghosh, SS, Nikolaidis, A, Stanley, OW, Uruñuela, E, Anousheh, N, Arnatkeviciute, A, Auzias, G, Bachar, D, Bannier, E, Basanisi, R, Basavaraj, A, Bedini, M, Bellec, P, Benn, RA, Berluti, K, Bollmann, S, Bradley, C, Brown, J, Buchweitz, A, Callahan, P, Chan, MY, Chandio, BQ, Cheng, T, Chopra, S, Chung, AW, Close, TG, Combrisson, E, Cona, G, Constable, RT, Cury, C, Dadi, K, Damasceno, PF, Das, S, De Vico Fallani, F, DeStasio, K, Dickie, EW, Dorfschmidt, L, Duff, EP, DuPre, E, Dziura, S, Esper, NB, Esteban, O, Fadnavis, S, Flandin, G, Flannery, JE, Flournoy, J, Forkel, SJ, Gau, R, Noble, S, Heuer, K, Bottenhorn, KL, Bilgin, IP, Yang, YF, Huntenburg, JM, Bayer, JMM, Bethlehem, RAI, Rhoads, SA, Vogelbacher, C, Borghesani, V, Levitis, E, Wang, HT, Van Den Bossche, S, Kobeleva, X, Legarreta, JH, Guay, S, Atay, SM, Varoquaux, GP, Huijser, DC, Sandström, MS, Herholz, P, Nastase, SA, Badhwar, AP, Dumas, G, Schwab, S, Moia, S, Dayan, M, Bassil, Y, Brooks, PP, Mancini, M, Shine, JM, O'Connor, D, Xie, X, Poggiali, D, Friedrich, P, Heinsfeld, AS, Riedl, L, Toro, R, Caballero-Gaudes, C, Eklund, A, Garner, KG, Nolan, CR, Demeter, DV, Barrios, FA, Merchant, JS, McDevitt, EA, Oostenveld, R, Craddock, RC, Rokem, A, Doyle, A, Ghosh, SS, Nikolaidis, A, Stanley, OW, Uruñuela, E, Anousheh, N, Arnatkeviciute, A, Auzias, G, Bachar, D, Bannier, E, Basanisi, R, Basavaraj, A, Bedini, M, Bellec, P, Benn, RA, Berluti, K, Bollmann, S, Bradley, C, Brown, J, Buchweitz, A, Callahan, P, Chan, MY, Chandio, BQ, Cheng, T, Chopra, S, Chung, AW, Close, TG, Combrisson, E, Cona, G, Constable, RT, Cury, C, Dadi, K, Damasceno, PF, Das, S, De Vico Fallani, F, DeStasio, K, Dickie, EW, Dorfschmidt, L, Duff, EP, DuPre, E, Dziura, S, Esper, NB, Esteban, O, Fadnavis, S, Flandin, G, Flannery, JE, Flournoy, J, and Forkel, SJ
- Published
- 2021
3. Waist-to-Height Ratio Is Useful as BMI To Identify High Metabolic Risk but Does Not Predict Ghrelin and Adiponectin Regulation in Paediatric Obesity.
- Author
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Prodam, F, primary, Bellone, S, additional, Trovato, L, additional, Moia, S, additional, Savastio, S, additional, Genoni, G, additional, Dondi, E, additional, Busti, A, additional, and Bona, G, additional
- Published
- 2010
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4. Tourette syndrome in a patient with resistance to thyroid hormone syndrome
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Monzani, A, Bona, G, Moia, S, Corrias, A, Miglio, C, Cavanna, A, Monzani A, Bona G, Moia S, Corrias A, Miglio C, Cavanna A, Monzani, A, Bona, G, Moia, S, Corrias, A, Miglio, C, Cavanna, A, Monzani A, Bona G, Moia S, Corrias A, Miglio C, and Cavanna A
- Published
- 2013
5. Analisi molecolare del gene GHR in bambini con bassa statura idiopatica e parziale insesibilità al GH
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Riccomagno, S, Bellone, S, Petri, A, Prodam, F, Walker, Ge, Moia, S, Roccio, M, Salerno, M, Wasniewska, Malgorzata Gabriela, and Bona, G.
- Published
- 2011
6. Role of SOCS2 in regulating Gh signaling: screening of variations associated with idiopathic short stature, preliminary data
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Riccomagno, S., Moia, S., Bellone, S., Petri, A., Vivenza, D., Godi, M., Prodram, F., Corneli, G., Valenzise, Mariella, Giordano, M., MOMIGLIANO RICHIARDI, P., and Bona, G.
- Published
- 2008
7. 628 AUTOANTIBODIES AGAINST CYTOCHROME P4502E1 (CYP2E1) CONFORMATIONAL ANTIGENS IN PATIENTS WITH CHRONIC HEPATITIS C
- Author
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Sutti, S., primary, Vidali, M., additional, Occhino, G., additional, Ivaldi, A., additional, Potettu, E., additional, Serino, R., additional, Moia, S., additional, Rigamonti, C., additional, Sartori, M., additional, and Albano, E., additional
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- 2008
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8. Tourette syndrome in a patient with resistance to thyroid hormone syndrome
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Andrea E. Cavanna, Carla Miglio, Alice Monzani, Andrea Corrias, Gianni Bona, Stefania Moia, Monzani, A, Bona, G, Moia, S, Corrias, A, Miglio, C, and Cavanna, A
- Subjects
medicine.medical_specialty ,business.industry ,Thyroid ,Tourette syndrome, tics, resistance to thyroid hormone syndrome ,medicine.disease ,Tourette syndrome ,Psychiatry and Mental health ,medicine.anatomical_structure ,Endocrinology ,Internal medicine ,medicine ,Neurology (clinical) ,business ,Hormone - Published
- 2013
9. 446 Contribution of auto-immune reactions involving cytochrome P4502E1 to hepatocyte injury during chronic hepatitis C
- Author
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Vidali, M., Occhino, G., Ivaldi, A., Serino, R., Moia, S., Rigamonti, C., Sartorie, M., and Albano, E.
- Published
- 2006
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10. Frontostriatal salience network expansion in individuals in depression.
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Lynch CJ, Elbau IG, Ng T, Ayaz A, Zhu S, Wolk D, Manfredi N, Johnson M, Chang M, Chou J, Summerville I, Ho C, Lueckel M, Bukhari H, Buchanan D, Victoria LW, Solomonov N, Goldwaser E, Moia S, Caballero-Gaudes C, Downar J, Vila-Rodriguez F, Daskalakis ZJ, Blumberger DM, Kay K, Aloysi A, Gordon EM, Bhati MT, Williams N, Power JD, Zebley B, Grosenick L, Gunning FM, and Liston C
- Subjects
- Adult, Female, Humans, Male, Middle Aged, Young Adult, Affect physiology, Anhedonia physiology, Longitudinal Studies, Magnetic Resonance Imaging, Reproducibility of Results, Brain Mapping methods, Brain Mapping standards, Corpus Striatum diagnostic imaging, Corpus Striatum pathology, Corpus Striatum physiopathology, Depression diagnostic imaging, Depression pathology, Depression physiopathology, Frontal Lobe diagnostic imaging, Frontal Lobe pathology, Frontal Lobe physiopathology, Nerve Net diagnostic imaging, Nerve Net pathology, Nerve Net physiopathology, Neural Pathways diagnostic imaging, Neural Pathways pathology, Neural Pathways physiopathology
- Abstract
Decades of neuroimaging studies have shown modest differences in brain structure and connectivity in depression, hindering mechanistic insights or the identification of risk factors for disease onset
1 . Furthermore, whereas depression is episodic, few longitudinal neuroimaging studies exist, limiting understanding of mechanisms that drive mood-state transitions. The emerging field of precision functional mapping has used densely sampled longitudinal neuroimaging data to show behaviourally meaningful differences in brain network topography and connectivity between and in healthy individuals2-4 , but this approach has not been applied in depression. Here, using precision functional mapping and several samples of deeply sampled individuals, we found that the frontostriatal salience network is expanded nearly twofold in the cortex of most individuals with depression. This effect was replicable in several samples and caused primarily by network border shifts, with three distinct modes of encroachment occurring in different individuals. Salience network expansion was stable over time, unaffected by mood state and detectable in children before the onset of depression later in adolescence. Longitudinal analyses of individuals scanned up to 62 times over 1.5 years identified connectivity changes in frontostriatal circuits that tracked fluctuations in specific symptoms and predicted future anhedonia symptoms. Together, these findings identify a trait-like brain network topology that may confer risk for depression and mood-state-dependent connectivity changes in frontostriatal circuits that predict the emergence and remission of depressive symptoms over time., (© 2024. The Author(s).)- Published
- 2024
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11. Denoising task-correlated head motion from motor-task fMRI data with multi-echo ICA.
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Reddy NA, Zvolanek KM, Moia S, Caballero-Gaudes C, and Bright MG
- Abstract
Motor-task functional magnetic resonance imaging (fMRI) is crucial in the study of several clinical conditions, including stroke and Parkinson's disease. However, motor-task fMRI is complicated by task-correlated head motion, which can be magnified in clinical populations and confounds motor activation results. One method that may mitigate this issue is multi-echo independent component analysis (ME-ICA), which has been shown to separate the effects of head motion from the desired blood oxygenation level dependent (BOLD) signal but has not been tested in motor-task datasets with high amounts of motion. In this study, we collected an fMRI dataset from a healthy population who performed a hand grasp task with and without task-correlated amplified head motion to simulate a motor-impaired population. We analyzed these data using three models: single-echo (SE), multi-echo optimally combined (ME-OC), and ME-ICA. We compared the models' performance in mitigating the effects of head motion on the subject level and group level. On the subject level, ME-ICA better dissociated the effects of head motion from the BOLD signal and reduced noise. Both ME models led to increased t-statistics in brain motor regions. In scans with high levels of motion, ME-ICA additionally mitigated artifacts and increased stability of beta coefficient estimates, compared to SE. On the group level, all three models produced activation clusters in expected motor areas in scans with both low and high motion, indicating that group-level averaging may also sufficiently resolve motion artifacts that vary by subject. These findings demonstrate that ME-ICA is a useful tool for subject-level analysis of motor-task data with high levels of task-correlated head motion. The improvements afforded by ME-ICA are critical to improve reliability of subject-level activation maps for clinical populations in which group-level analysis may not be feasible or appropriate, for example, in a chronic stroke cohort with varying stroke location and degree of tissue damage., Competing Interests: DECLARATION OF COMPETING INTEREST The authors declare no competing financial interests.
- Published
- 2024
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12. Denoising task-correlated head motion from motor-task fMRI data with multi-echo ICA.
- Author
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Reddy NA, Zvolanek KM, Moia S, Caballero-Gaudes C, and Bright MG
- Abstract
Motor-task functional magnetic resonance imaging (fMRI) is crucial in the study of several clinical conditions, including stroke and Parkinson's disease. However, motor-task fMRI is complicated by task-correlated head motion, which can be magnified in clinical populations and confounds motor activation results. One method that may mitigate this issue is multi-echo independent component analysis (ME-ICA), which has been shown to separate the effects of head motion from the desired BOLD signal but has not been tested in motor-task datasets with high amounts of motion. In this study, we collected an fMRI dataset from a healthy population who performed a hand grasp task with and without task-correlated amplified head motion to simulate a motor-impaired population. We analyzed these data using three models: single-echo (SE), multi-echo optimally combined (ME-OC), and ME-ICA. We compared the models' performance in mitigating the effects of head motion on the subject level and group level. On the subject level, ME-ICA better dissociated the effects of head motion from the BOLD signal and reduced noise. Both ME models led to increased t-statistics in brain motor regions. In scans with high levels of motion, ME-ICA additionally mitigated artifacts and increased stability of beta coefficient estimates, compared to SE. On the group level, all three models produced activation clusters in expected motor areas in scans with both low and high motion, indicating that group-level averaging may also sufficiently resolve motion artifacts that vary by subject. These findings demonstrate that ME-ICA is a useful tool for subject-level analysis of motor-task data with high levels of task-correlated head motion. The improvements afforded by ME-ICA are critical to improve reliability of subject-level activation maps for clinical populations in which group-level analysis may not be feasible or appropriate, for example in a chronic stroke cohort with varying stroke location and degree of tissue damage., Competing Interests: Declaration of competing interest The authors declare no competing financial interests.
- Published
- 2023
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13. Expansion of a frontostriatal salience network in individuals with depression.
- Author
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Lynch CJ, Elbau I, Ng T, Ayaz A, Zhu S, Manfredi N, Johnson M, Wolk D, Power JD, Gordon EM, Kay K, Aloysi A, Moia S, Caballero-Gaudes C, Victoria LW, Solomonov N, Goldwaser E, Zebley B, Grosenick L, Downar J, Vila-Rodriguez F, Daskalakis ZJ, Blumberger DM, Williams N, Gunning FM, and Liston C
- Abstract
Hundreds of neuroimaging studies spanning two decades have revealed differences in brain structure and functional connectivity in depression, but with modest effect sizes, complicating efforts to derive mechanistic pathophysiologic insights or develop biomarkers.
1 Furthermore, although depression is a fundamentally episodic condition, few neuroimaging studies have taken a longitudinal approach, which is critical for understanding cause and effect and delineating mechanisms that drive mood state transitions over time. The emerging field of precision functional mapping using densely-sampled longitudinal neuroimaging data has revealed unexpected, functionally meaningful individual differences in brain network topology in healthy individuals,2-5 but these approaches have never been applied to individuals with depression. Here, using precision functional mapping techniques and 11 datasets comprising n=187 repeatedly sampled individuals and >21,000 minutes of fMRI data, we show that the frontostriatal salience network is expanded two-fold in most individuals with depression. This effect was replicable in multiple samples, including large-scale, group-average data (N=1,231 subjects), and caused primarily by network border shifts affecting specific functional systems, with three distinct modes of encroachment occurring in different individuals. Salience network expansion was unexpectedly stable over time, unaffected by changes in mood state, and detectable in children before the subsequent onset of depressive symptoms in adolescence. Longitudinal analyses of individuals scanned up to 62 times over 1.5 years identified connectivity changes in specific frontostriatal circuits that tracked fluctuations in specific symptom domains and predicted future anhedonia symptoms before they emerged. Together, these findings identify a stable trait-like brain network topology that may confer risk for depression and mood-state dependent connectivity changes in frontostriatal circuits that predict the emergence and remission of depressive symptoms over time.- Published
- 2023
- Full Text
- View/download PDF
14. Comparing end-tidal CO 2 , respiration volume per time (RVT), and average gray matter signal for mapping cerebrovascular reactivity amplitude and delay with breath-hold task BOLD fMRI.
- Author
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Zvolanek KM, Moia S, Dean JN, Stickland RC, Caballero-Gaudes C, and Bright MG
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- Adult, Child, Humans, Carbon Dioxide, Gray Matter diagnostic imaging, Retrospective Studies, Prospective Studies, Breath Holding, Cerebrovascular Circulation physiology, Brain Mapping methods, Magnetic Resonance Imaging methods, Brain physiology
- Abstract
Cerebrovascular reactivity (CVR), defined as the cerebral blood flow response to a vasoactive stimulus, is an imaging biomarker with demonstrated utility in a range of diseases and in typical development and aging processes. A robust and widely implemented method to map CVR involves using a breath-hold task during a BOLD fMRI scan. Recording end-tidal CO
2 (PET CO2 ) changes during the breath-hold task is recommended to be used as a reference signal for modeling CVR amplitude in standard units (%BOLD/mmHg) and CVR delay in seconds. However, obtaining reliable PET CO2 recordings requires equipment and task compliance that may not be achievable in all settings. To address this challenge, we investigated two alternative reference signals to map CVR amplitude and delay in a lagged general linear model (lagged-GLM) framework: respiration volume per time (RVT) and average gray matter BOLD response (GM-BOLD). In 8 healthy adults with multiple scan sessions, we compare spatial agreement of CVR maps from RVT and GM-BOLD to those generated with PET CO2 . We define a threshold to determine whether a PET CO2 recording has "sufficient" quality for CVR mapping and perform these comparisons in 16 datasets with sufficient PET CO2 and 6 datasets with insufficient PET CO2 . When PET CO2 quality is sufficient, both RVT and GM-BOLD produce CVR amplitude maps that are nearly identical to those from PET CO2 (after accounting for differences in scale), with the caveat they are not in standard units to facilitate between-group comparisons. CVR delays are comparable to PET CO2 with an RVT regressor but may be underestimated with the average GM-BOLD regressor. Importantly, when PET CO2 quality is insufficient, RVT and GM-BOLD CVR recover reasonable CVR amplitude and delay maps, provided the participant attempted the breath-hold task. Therefore, our framework offers a solution for achieving high quality CVR maps in both retrospective and prospective studies where sufficient PET CO2 recordings are not available and especially in populations where obtaining reliable measurements is a known challenge (e.g., children). Our results have the potential to improve the accessibility of CVR mapping and to increase the prevalence of this promising metric of vascular health., Competing Interests: Declaration of Competing Interest The authors declare no competing financial interests., (Copyright © 2023. Published by Elsevier Inc.)- Published
- 2023
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15. Lag-Optimized Blood Oxygenation Level Dependent Cerebrovascular Reactivity Estimates Derived From Breathing Task Data Have a Stronger Relationship With Baseline Cerebral Blood Flow.
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Stickland RC, Zvolanek KM, Moia S, Caballero-Gaudes C, and Bright MG
- Abstract
Cerebrovascular reactivity (CVR), an important indicator of cerebrovascular health, is commonly studied with the Blood Oxygenation Level Dependent functional MRI (BOLD-fMRI) response to a vasoactive stimulus. Theoretical and empirical evidence suggests that baseline cerebral blood flow (CBF) modulates BOLD signal amplitude and may influence BOLD-CVR estimates. We address how acquisition and modeling choices affect the relationship between baseline cerebral blood flow (bCBF) and BOLD-CVR: whether BOLD-CVR is modeled with the inclusion of a breathing task, and whether BOLD-CVR amplitudes are optimized for hemodynamic lag effects. We assessed between-subject correlations of average GM values and within-subject spatial correlations across cortical regions. Our results suggest that a breathing task addition to a resting-state acquisition, alongside lag-optimization within BOLD-CVR modeling, can improve BOLD-CVR correlations with bCBF, both between- and within-subjects, likely because these CVR estimates are more physiologically accurate. We report positive correlations between bCBF and BOLD-CVR, both between- and within-subjects. The physiological explanation of this positive correlation is unclear; research with larger samples and tightly controlled vasoactive stimuli is needed. Insights into what drives variability in BOLD-CVR measurements and related measurements of cerebrovascular function are particularly relevant when interpreting results in populations with altered vascular and/or metabolic baselines or impaired cerebrovascular reserve., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Stickland, Zvolanek, Moia, Caballero-Gaudes and Bright.)
- Published
- 2022
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16. BIDScoin: A User-Friendly Application to Convert Source Data to Brain Imaging Data Structure.
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Zwiers MP, Moia S, and Oostenveld R
- Abstract
Analyses of brain function and anatomy using shared neuroimaging data is an important development, and have acquired the potential to be scaled up with the specification of a new Brain Imaging Data Structure (BIDS) standard. To date, a variety of software tools help researchers in converting their source data to BIDS but often require programming skills or are tailored to specific institutes, data sets, or data formats. In this paper, we introduce BIDScoin, a cross-platform, flexible, and user-friendly converter that provides a graphical user interface (GUI) to help users finding their way in BIDS standard. BIDScoin does not require programming skills to be set up and used and supports plugins to extend their functionality. In this paper, we show its design and demonstrate how it can be applied to a downloadable tutorial data set. BIDScoin is distributed as free and open-source software to foster the community-driven effort to promote and facilitate the use of BIDS standard., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Zwiers, Moia and Oostenveld.)
- Published
- 2022
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17. A practical modification to a resting state fMRI protocol for improved characterization of cerebrovascular function.
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Stickland RC, Zvolanek KM, Moia S, Ayyagari A, Caballero-Gaudes C, and Bright MG
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- Adult, Breath Holding, Carbon Dioxide blood, Cerebral Palsy diagnostic imaging, Cerebral Palsy physiopathology, Datasets as Topic, Female, Humans, Incidental Findings, Male, Moyamoya Disease diagnostic imaging, Moyamoya Disease physiopathology, Oxygen blood, Respiration, Young Adult, Cerebrovascular Circulation physiology, Magnetic Resonance Imaging methods, Rest physiology
- Abstract
Cerebrovascular reactivity (CVR), defined here as the Blood Oxygenation Level Dependent (BOLD) response to a CO
2 pressure change, is a useful metric of cerebrovascular function. Both the amplitude and the timing (hemodynamic lag) of the CVR response can bring insight into the nature of a cerebrovascular pathology and aid in understanding noise confounds when using functional Magnetic Resonance Imaging (fMRI) to study neural activity. This research assessed a practical modification to a typical resting-state fMRI protocol, to improve the characterization of cerebrovascular function. In 9 healthy subjects, we modelled CVR and lag in three resting-state data segments, and in data segments which added a 2-3 minute breathing task to the start of a resting-state segment. Two different breathing tasks were used to induce fluctuations in arterial CO2 pressure: a breath-hold task to induce hypercapnia (CO2 increase) and a cued deep breathing task to induce hypocapnia (CO2 decrease). Our analysis produced voxel-wise estimates of the amplitude (CVR) and timing (lag) of the BOLD-fMRI response to CO2 by systematically shifting the CO2 regressor in time to optimize the model fit. This optimization inherently increases gray matter CVR values and fit statistics. The inclusion of a simple breathing task, compared to a resting-state scan only, increases the number of voxels in the brain that have a significant relationship between CO2 and BOLD-fMRI signals, and improves our confidence in the plausibility of voxel-wise CVR and hemodynamic lag estimates. We demonstrate the clinical utility and feasibility of this protocol in an incidental finding of Moyamoya disease, and explore the possibilities and challenges of using this protocol in younger populations. This hybrid protocol has direct applications for CVR mapping in both research and clinical settings and wider applications for fMRI denoising and interpretation., Competing Interests: Declaration of Competing Interest The authors declare no competing financial interests., (Copyright © 2021. Published by Elsevier Inc.)- Published
- 2021
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18. Brainhack: Developing a culture of open, inclusive, community-driven neuroscience.
- Author
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Gau R, Noble S, Heuer K, Bottenhorn KL, Bilgin IP, Yang YF, Huntenburg JM, Bayer JMM, Bethlehem RAI, Rhoads SA, Vogelbacher C, Borghesani V, Levitis E, Wang HT, Van Den Bossche S, Kobeleva X, Legarreta JH, Guay S, Atay SM, Varoquaux GP, Huijser DC, Sandström MS, Herholz P, Nastase SA, Badhwar A, Dumas G, Schwab S, Moia S, Dayan M, Bassil Y, Brooks PP, Mancini M, Shine JM, O'Connor D, Xie X, Poggiali D, Friedrich P, Heinsfeld AS, Riedl L, Toro R, Caballero-Gaudes C, Eklund A, Garner KG, Nolan CR, Demeter DV, Barrios FA, Merchant JS, McDevitt EA, Oostenveld R, Craddock RC, Rokem A, Doyle A, Ghosh SS, Nikolaidis A, Stanley OW, and Uruñuela E
- Subjects
- Congresses as Topic, Practice Guidelines as Topic, Communication, Internet, Neurosciences organization & administration
- Abstract
Brainhack is an innovative meeting format that promotes scientific collaboration and education in an open, inclusive environment. This NeuroView describes the myriad benefits for participants and the research community and how Brainhacks complement conventional formats to augment scientific progress., Competing Interests: Declaration of interests Anisha Keshavan is an employee of Octave Bioscience., (Copyright © 2021 Elsevier Inc. All rights reserved.)
- Published
- 2021
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19. ICA-based denoising strategies in breath-hold induced cerebrovascular reactivity mapping with multi echo BOLD fMRI.
- Author
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Moia S, Termenon M, Uruñuela E, Chen G, Stickland RC, Bright MG, and Caballero-Gaudes C
- Subjects
- Adult, Aged, Aged, 80 and over, Blood Flow Velocity physiology, Brain blood supply, Cerebral Arteries diagnostic imaging, Cohort Studies, Female, Humans, Male, Middle Aged, Prospective Studies, Brain diagnostic imaging, Breath Holding, Cerebrovascular Circulation physiology, Magnetic Resonance Imaging methods, Oxygen Consumption physiology, Spin Labels
- Abstract
Performing a BOLD functional MRI (fMRI) acquisition during breath-hold (BH) tasks is a non-invasive, robust method to estimate cerebrovascular reactivity (CVR). However, movement and breathing-related artefacts caused by the BH can substantially hinder CVR estimates due to their high temporal collinearity with the effect of interest, and attention has to be paid when choosing which analysis model should be applied to the data. In this study, we evaluate the performance of multiple analysis strategies based on lagged general linear models applied on multi-echo BOLD fMRI data, acquired in ten subjects performing a BH task during ten sessions, to obtain subject-specific CVR and haemodynamic lag estimates. The evaluated approaches range from conventional regression models, i.e. including drifts and motion timecourses as nuisance regressors, applied on single-echo or optimally-combined data, to more complex models including regressors obtained from multi-echo independent component analysis with different grades of orthogonalization in order to preserve the effect of interest, i.e. the CVR. We compare these models in terms of their ability to make signal intensity changes independent from motion, as well as the reliability as measured by voxelwise intraclass correlation coefficients of both CVR and lag maps over time. Our results reveal that a conservative independent component analysis model applied on the optimally-combined multi-echo fMRI signal offers the largest reduction of motion-related effects in the signal, while yielding reliable CVR amplitude and lag estimates, although a conventional regression model applied on the optimally-combined data results in similar estimates. This work demonstrates the usefulness of multi-echo based fMRI acquisitions and independent component analysis denoising for precision mapping of CVR in single subjects based on BH paradigms, fostering its potential as a clinically-viable neuroimaging tool for individual patients. It also proves that the way in which data-driven regressors should be incorporated in the analysis model is not straight-forward due to their complex interaction with the BH-induced BOLD response., (Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.)
- Published
- 2021
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20. Voxelwise optimization of hemodynamic lags to improve regional CVR estimates in breath-hold fMRI.
- Author
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Moia S, Stickland RC, Ayyagari A, Termenon M, Caballero-Gaudes C, and Bright MG
- Subjects
- Brain diagnostic imaging, Hemodynamics, Oxygen, Cerebrovascular Circulation, Magnetic Resonance Imaging
- Abstract
Cerebrovascular Reactivity (CVR), the responsiveness of blood vessels to a vasodilatory stimulus, is an important indicator of cerebrovascular health. Assessing CVR with fMRI, we can measure the change in the Blood Oxygen Level Dependent (BOLD) response induced by a change in CO2 pressure (%BOLD/mmHg). However, there exists a temporal offset between the recorded CO2 pressure and the local BOLD response, due to both measurement and physiological delays. If this offset is not corrected for, voxel-wise CVR values will not be accurate. In this paper, we propose a framework for mapping hemodynamic lag in breath-hold fMRI data. As breath-hold tasks drive task-correlated head motion artifacts in BOLD fMRI data, our framework for lag estimation fits a model that includes polynomial terms and head motion parameters, as well as a shifted variant of the CO2 regressor (±9 s in 0.3 s increments), and the hemodynamic lag at each voxel is the shift producing the maximum total model R2 within physiological constraints. This approach is evaluated in 8 subjects with multi-echo fMRI data, resulting in robust maps of hemodynamic delay that show consistent regional variation across subjects, and improved contrast-to-noise compared to methods where motion regression is ignored or performed earlier in preprocessing.Clinical Relevance- We map hemodynamic lag using breathhold fMRI, providing insight into vascular transit times and improving the regional accuracy of cerebrovascular reactivity measurements.
- Published
- 2020
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21. A deconvolution algorithm for multi-echo functional MRI: Multi-echo Sparse Paradigm Free Mapping.
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Caballero-Gaudes C, Moia S, Panwar P, Bandettini PA, and Gonzalez-Castillo J
- Subjects
- Adult, Algorithms, Female, Humans, Male, ROC Curve, Young Adult, Brain physiology, Brain Mapping methods, Image Processing, Computer-Assisted methods, Magnetic Resonance Imaging, Signal Processing, Computer-Assisted
- Abstract
This work introduces a novel algorithm for deconvolution of the BOLD signal in multi-echo fMRI data: Multi-echo Sparse Paradigm Free Mapping (ME-SPFM). Assuming a linear dependence of the BOLD percent signal change on the echo time (TE) and using sparsity-promoting regularized least squares estimation, ME-SPFM yields voxelwise time-varying estimates of the changes in the apparent transverse relaxation (ΔR
2 ⁎ ) without prior knowledge of the timings of individual BOLD events. Our results in multi-echo fMRI data collected during a multi-task event-related paradigm at 3 Tesla demonstrate that the maps of R2 ⁎ changes obtained with ME-SPFM at the times of the stimulus trials show high spatial and temporal concordance with the activation maps and BOLD signals obtained with standard model-based analysis. This method yields estimates of ΔR2 ⁎ having physiologically plausible values. Owing to its ability to blindly detect events, ME-SPFM also enables us to map ΔR2 ⁎ associated with spontaneous, transient BOLD responses occurring between trials. This framework is a step towards deciphering the dynamic nature of brain activity in naturalistic paradigms, resting-state or experimental paradigms with unknown timing of the BOLD events., (Copyright © 2019 Elsevier Inc. All rights reserved.)- Published
- 2019
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22. Unacylated ghrelin and obestatin: promising biomarkers of protein energy wasting in children with chronic kidney disease.
- Author
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Monzani A, Perrone M, Prodam F, Moia S, Genoni G, Testa S, Paglialonga F, Rapa A, Bona G, Montini G, and Edefonti A
- Subjects
- Adolescent, Anthropometry methods, Body Composition physiology, Cachexia etiology, Case-Control Studies, Child, Child, Preschool, Cross-Sectional Studies, Energy Metabolism physiology, Female, Humans, Italy, Kidney Function Tests methods, Kidney Transplantation statistics & numerical data, Male, Nutritional Status, Regression Analysis, Renal Dialysis statistics & numerical data, Renal Insufficiency, Chronic complications, Young Adult, Biomarkers blood, Cachexia blood, Ghrelin blood, Renal Insufficiency, Chronic blood
- Abstract
Background: Impairment in orexigenic/anorexigenic hormone balance may be key in the pathogenesis of protein energy wasting in children with chronic kidney disease (CKD). Measurement of ghrelin and obestatin concentrations in children with CKD would help assess the potential contribution of these hormones to uremic protein energy wasting., Methods: This was a cross-sectional case-control study. Acylated and unacylated ghrelin and obestatin were measured in 42 children on conservative treatment (CT), 20 children on hemodialysis, 48 pediatric renal transplant (RTx) recipients and 43 controls (CTR) (mean age 11.9, range 5-20 years). Weight, height and bicipital, tricipital, subscapular and suprailiac folds were measured, and the body mass index-standard deviation score (BMI-SDS), percentage of fat mass and fat-free mass were calculated. Urea and creatinine were measured and the glomerular filtration rate (GFR) calculated., Results: Unacylated ghrelin level was higher in patients than controls (p = 0.0001), with the highest levels found in hemodialysis patients (p = 0.001 vs. CKD-CT, p = 0.0001 vs. RTx, p < 0.0001 vs. CTR). Obestatin level was significantly higher in patients on hemodialysis than those on conservative treatment, RTx recipients and controls (p < 0.0001 in each case). Unacylated ghrelin negatively correlated with weight-SDS (p < 0.0001), BMI-SDS (p = 0.0005) and percentage fat mass (p = 0.004) and positively correlated with percentage fat-free mass (p = 0.004). Obestatin concentration negatively correlated with weight-SDS (p = 0.007). Unacylated ghrelin and obestatin concentrations positively correlated with creatinine and urea and inversely with eGFR, even after adjustments for gender, age, puberty and BMI-SDS (p < 0.0001 for each model)., Conclusions: Unacylated ghrelin and obestatin, negatively related to renal function, seem to be promising inverse indicators of nutritional status in children with CKD. Potential therapeutic implications in terms of optimization of their removal in patients on hemodialysis could be hypothesized.
- Published
- 2018
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23. Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.
- Author
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Moia S, Tessaris D, Einaudi S, de Sanctis L, Bona G, Bellone S, and Prodam F
- Subjects
- Child, Child, Preschool, Female, Heterozygote, Humans, Italy, Laron Syndrome diagnosis, Prognosis, Severity of Illness Index, Genetic Predisposition to Disease, Laron Syndrome genetics, Mutation, Missense, Receptors, Somatotropin genetics
- Abstract
Background: Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation. Biochemically, patients present normal to high circulating GH levels, in presence of very low or undetectable IGF-I levels, which do not rise after rhGH treatment., Case Presentation: We describe the case of a 3.8 years old girl with symmetrical short stature (-3.76 SDS), low IGF-1 and IGFBP-3, in presence of normal GH levels. Parents were not relatives and there was no family history of short stature. During the second day of birth, she developed severe hypoglycaemia that required glucose infusion. She presented frontal bossing and depressed nasal bridge. IGF-1 generation test showed no response, suggesting a GH resistance evidence. In the hypothesis of Laron Syndrome, we decided to perform a molecular analysis of Growth Hormone Receptor (GHR) gene. This analysis demonstrated that the patient was compound heterozygote for two missense mutations., Conclusions: GHR gene mutations are a well demonstrated cause of GH insensitivity. In heterozygous patients, probably the normal stature may be achieved by a compensatory mechanism of GH secretion or signalling. On the contrary, in homozygous or compound heterozygous patients these compensatory mechanisms are inadequate, and short stature may be the consequence.
- Published
- 2017
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24. Intracoronary Des-Acyl Ghrelin Acutely Increases Cardiac Perfusion Through a Nitric Oxide-Related Mechanism in Female Anesthetized Pigs.
- Author
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Grossini E, Raina G, Farruggio S, Camillo L, Molinari C, Mary D, Walker GE, Bona G, Vacca G, Moia S, Prodam F, and Surico D
- Subjects
- Animals, Coronary Circulation drug effects, Coronary Vessels drug effects, Coronary Vessels metabolism, Female, Ghrelin administration & dosage, Heart drug effects, Heart Rate drug effects, Hemodynamics drug effects, MAP Kinase Signaling System drug effects, Nitric Oxide Synthase Type III metabolism, Phosphorylation drug effects, Proto-Oncogene Proteins c-akt metabolism, Signal Transduction drug effects, Swine, p38 Mitogen-Activated Protein Kinases metabolism, Ghrelin pharmacology, Nitric Oxide metabolism, Nitric Oxide Synthase metabolism
- Abstract
Des-acyl ghrelin (DAG), the most abundant form of ghrelin in humans, has been found to reduce arterial blood pressure and prevent cardiac and endothelial cell apoptosis. Despite this, data regarding its direct effect on cardiac function and coronary blood flow, as well as the related involvement of autonomic nervous system and nitric oxide (NO), are scarce. We therefore examined these issues using both in vivo and in vitro studies. In 20 anesthetized pigs, intracoronary 100 pmol/mL DAG infusion with a constant heart rate and aortic blood pressure, increased coronary blood flow and NO release, whereas reducing coronary vascular resistances (P < .05). Dose responses to DAG were evaluated in five pigs. No effects on cardiac contractility/relaxation or myocardial oxygen consumption were observed. Moreover, whereas the blockade of muscarinic cholinoceptors (n = 5) or α- and β-adrenoceptors (n = 5 each) did not abolish the observed responses, NO synthase inhibition (n = 5) prevented the effects of DAG on coronary blood flow and NO release. In coronary artery endothelial cells, DAG dose dependently increased NO release through cAMP signaling and ERK1/2, Akt, and p38 MAPK involvement as well as the phosphorylation of endothelial NO synthase. In conclusion, in anesthetized pigs, DAG primarily increased cardiac perfusion through the involvement of NO release. Moreover, the phosphorylation of ERK1/2 and Akt appears to play roles in eliciting the observed NO production in coronary artery endothelial cells.
- Published
- 2016
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25. Adiponectin oligomers are similarly distributed in adequate-for-gestational-age obese children irrespective of feeding in their first year.
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Prodam F, Roccio M, Trovato L, Ricotti R, Moia S, Giglione E, Petri A, Walker GE, Bellone S, and Bona G
- Subjects
- Adiponectin genetics, Body Mass Index, Cross-Sectional Studies, Female, Gestational Age, Humans, Infant, Male, Retrospective Studies, Risk Factors, Adiponectin metabolism, Child Development physiology, Infant Nutritional Physiological Phenomena, Obesity metabolism
- Abstract
Background: Nutrition and growth in early postnatal life have a role in future diseases. Our aim was to investigate adiponectin oligomers in adequate-for-gestational-age obese children with respect to type and duration of feeding in the first year of life., Methods: Adiponectin oligomers and cardiometabolic risk factors were measured in 113 adequate-for-gestational-age obese children, divided into group A (prolonged breast feeding, >6 mo), group B (short breast feeding, 1-6 mo), and group C (formula feeding from birth)., Results: All the parameters were similar among the groups. Adiponectin oligomers did not correlate with gestational age, months of breast feeding, and time of weaning. Total and high-molecular weight adiponectin were differently distributed across gender and pubertal stages (P < 0.02), being lower in males from the start of puberty. Prepregnancy BMI and at the end of the pregnancy were negatively associated (P < 0.04) with total and medium-molecular weight adiponectin in female and male offspring, respectively., Conclusions: Adiponectin oligomers and metabolic characteristics are similarly distributed in adequate-for-gestational-age obese children, irrespective of the type and duration of the feeding in the first year of life. Gender and mother's BMI in pregnancy are contributors to adiponectin regulation. Further studies will explain whether breastfeeding protects against metabolic impairment later in life.
- Published
- 2015
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26. Interictal ghrelin levels in adult patients with epilepsy.
- Author
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Varrasi C, Strigaro G, Sola M, Falletta L, Moia S, Prodam F, and Cantello R
- Subjects
- Acylation, Adult, Biomarkers analysis, Blood Glucose analysis, Cross-Sectional Studies, Female, Humans, Male, Body Mass Index, Epilepsy blood, Epilepsy diagnosis, Ghrelin blood
- Abstract
Purpose: In vitro or in animal models of epilepsy, ghrelin showed a clear anticonvulsant action, whose mechanisms are somewhat obscure. In humans however, a controversial relation exists between ghrelin and epilepsy. Yet most studies investigated just total ghrelin levels, without a proper distinction between acylated (AG) or unacylated ghrelin (UAG). We thus evaluated separately AG and UAG interictal levels in adult patients with epilepsy, and their relation to clinical features., Method: Cross-sectional study in a tertiary referral centre. Fifty-six patients were recruited: 19 with idiopathic generalized epilepsy, 18 with cryptogenic focal epilepsy and 19 with symptomatic focal epilepsy. Twenty-six healthy subjects of similar age, sex and body mass index (BMI) acted as controls. AG and UAG levels were measured following an overnight fasting and contrasted to the clinical and biometric features., Results: AG and UAG levels were similar between patients and controls. The AG/UAG ratio was higher in patients, also when weighted for covariates (age, BMI, gender, and drugs). Splitting patients according to their epileptic syndrome, drug-resistance or antiepileptic drug number/type resulted in no significant difference in AG, UAG or their ratio. Yet, AG and UAG levels were positively predicted by disease duration, independently by confounders., Conclusion: In adult patients with epilepsy, interictal ghrelin levels did not differ from controls, though the AG/UAG ratio was imbalanced. Interpretation of the latter phenomenon is uncertain. Further, levels of AG and UAG were in direct proportion to disease duration, which may represent a long-term compensatory mechanism, antagonistic to the epileptic process., (Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2014
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27. Obestatin levels are associated with C-peptide and antiinsulin antibodies at the onset, whereas unacylated and acylated ghrelin levels are not predictive of long-term metabolic control in children with type 1 diabetes.
- Author
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Prodam F, Cadario F, Bellone S, Trovato L, Moia S, Pozzi E, Savastio S, and Bona G
- Subjects
- Acetylation, Adolescent, Case-Control Studies, Child, Female, Humans, Male, Prognosis, Autoantibodies blood, C-Peptide blood, Diabetes Mellitus, Type 1 diagnosis, Diabetes Mellitus, Type 1 metabolism, Ghrelin blood, Insulin immunology
- Abstract
Context and Objective: Ghrelin secretion is altered at the onset and after the start of insulin therapy in children with type 1 diabetes. Contemporary regulation of acylated ghrelin (AG), unacylated ghrelin (UAG), and obestatin (OBST) remains undefined in this disease. It is unknown as to whether they could be good predictors of changes in glucose and metabolic control., Design, Setting, and Subjects: This was a longitudinal study conducted in a tertiary care center. AG, UAG, and OBST were measured at baseline and after 2 years of follow-up in 51 children and adolescents with a history of type 1 diabetes extending beyond 1 year. A total of 33 healthy matched subjects were used as controls., Results: Age-, puberty-, and body mass index-adjusted UAG levels were lower (P < .005) and OBST levels were higher (P < .009) in children with type 1 diabetes, with respect to controls. AG levels were similar to controls, but all ratios of the three peptides are altered in diabetic patients. OBST (P < .05) was negatively correlated with C-peptide (P < .05) and insulin antibodies (P < .008) at the onset of diabetes. In diabetic patients, baseline AG and UAG levels were negatively correlated with insulin dosage in the short and long term (P < .001). AG, but not OBST, was positively correlated with C-peptide levels 2 years after diagnosis (P < .05). Overall, the peptides were not predictive of glucose and metabolic control., Conclusions: UAG, AG, OBST, and their ratios are differently regulated in children with type 1 diabetes, suggesting a role in the metabolic balance of the disease, with insulin a likely regulator of AG and UAG. The peptides do not appear to be good long-term predictors of glucose control, with further investigations needed to explain whether OBST could be a precocious predictor of islet dysfunction.
- Published
- 2014
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28. Pediatric obesity and vitamin D deficiency: a proteomic approach identifies multimeric adiponectin as a key link between these conditions.
- Author
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Walker GE, Ricotti R, Roccio M, Moia S, Bellone S, Prodam F, and Bona G
- Subjects
- 3T3-L1 Cells, Adipocytes drug effects, Adipocytes metabolism, Adiponectin chemistry, Adolescent, Animals, Biomarkers, Child, Child, Preschool, Cholecalciferol therapeutic use, Female, Humans, Male, Mice, Protein Multimerization, Proteomics methods, Vitamin D Deficiency drug therapy, Adiponectin metabolism, Pediatric Obesity metabolism, Vitamin D Deficiency metabolism
- Abstract
Key circulating molecules that link vitamin D (VD) to pediatric obesity and its co-morbidities remain unclear. Using a proteomic approach, our objective was to identify key molecules in obese children dichotomized according to 25OH-vitamin D (25OHD) levels. A total of 42 obese children (M/F = 18/24) were divided according to their 25OHD3 levels into 25OHD3 deficient (VDD; n = 18; 25OHD<15 ng/ml) or normal subjects (NVD; n = 24; >30 ng/ml). Plasma proteomic analyses by two dimensional (2D)-electrophoresis were performed at baseline in all subjects. VDD subjects underwent a 12mo treatment with 3000 IU vitamin D3 once a week to confirm the proteomic analyses. The proteomic analyses identified 53 "spots" that differed between VDD and NVD (p<0.05), amongst which adiponectin was identified. Adiponectin was selected for confirmational studies due to its tight association with obesity and diabetes mellitus. Western Immunoblot (WIB) analyses of 2D-gels demonstrated a downregulation of adiponectin in VDD subjects, which was confirmed in the plasma from VDD with respect to NVD subjects (p<0.035) and increased following 12mo vitamin D3 supplementation in VDD subjects (p<0.02). High molecular weight (HMW) adiponectin, a surrogate indicator of insulin sensitivity, was significantly lower in VDD subjects (p<0.02) and improved with vitamin D3 supplementation (p<0.042). A direct effect in vitro of 1α,25-(OH)2D3 on adipocyte adiponectin synthesis was demonstrated, with adiponectin and its multimeric forms upregulated, even at low pharmacological doses (10(-9) M) of 1α,25-(OH)2D3. This upregulation was paralleled by the adiponectin interactive protein, DsbA-L, suggesting that the VD regulation of adiponectin involves post-transciptional events. Using a proteomic approach, multimeric adiponectin has been identified as a key plasma protein that links VDD to pediatric obesity.
- Published
- 2014
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29. Tourette syndrome in a patient with resistance to thyroid hormone syndrome.
- Author
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Monzani A, Bona G, Moia S, Corrias A, Miglio C, and Cavanna AE
- Subjects
- Adolescent, Attention Deficit Disorder with Hyperactivity complications, Humans, Male, Thyroid Hormone Resistance Syndrome complications, Tourette Syndrome complications
- Published
- 2013
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30. Involvement of genes related to inflammation and cell cycle in idiopathic short stature.
- Author
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Trovato L, Prodam F, Genoni G, De Rienzo F, Walker GE, Moia S, Riccomagno S, Bellone S, and Bona G
- Subjects
- Adolescent, Cell Cycle physiology, Chemokine CXCL9 metabolism, Chemokines metabolism, Child, Cytokines metabolism, Enzyme-Linked Immunosorbent Assay, Female, Humans, Male, Nuclear Proteins genetics, Nuclear Proteins metabolism, Phosphoproteins genetics, Phosphoproteins metabolism, Polymerase Chain Reaction, Receptors, IgG genetics, Receptors, IgG metabolism, Dwarfism, Pituitary metabolism, Inflammation metabolism
- Abstract
Idiopathic Short Stature (ISS) defines a condition in which height is <-2SD compared to the mean of a reference population where systemic, endocrinological, nutritional or chromosomal disorders have not been identified and diagnosis is based on exclusion of any known causes of short stature. JAK/STAT pathway is triggered by GH binding to the GH receptor and promotes cellular growth through transcription of GH-responsive genes. In order to identify "candidate genes" differently expressed in ISS subjects with respect to control ones, we analyzed the expression of 84 genes related to JAK/STAT pathway by RT(2) Profiler PCR array approach in a total of 10 subjects. Then, we validated the observed data by Real Time PCR and ELISA assays in a major number of subjects. We found two genes that were differently expressed in ISS subjects with respect to the control group: CXCL9 and FCGR1A/CD64, both significantly up-regulated (fold change 2.17 and 1.70, respectively) and belonging to family of IFN-γ-inducible factors. Further, ISS subjects showed an increased gene expression of IFN-γ and IFI16, higher serum levels of IFN-γ but similar levels of CXCL9 when compared to healthy subjects. In addition, we showed a pubertal modulation of CXCL9 levels. These data suggest that inflammatory and regulatory factors of the cell cycle may be involved in the ISS condition, introducing a new perspective to its etiology.
- Published
- 2013
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31. Endocrine disorders in childhood and adolescence. Natural history of subclinical hypothyroidism in children and adolescents and potential effects of replacement therapy: a review.
- Author
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Monzani A, Prodam F, Rapa A, Moia S, Agarla V, Bellone S, and Bona G
- Subjects
- Adolescent, Child, Child, Preschool, Disease Progression, Female, Hormone Replacement Therapy adverse effects, Humans, Infant, Male, Thyroiditis, Autoimmune drug therapy, Thyrotropin blood, Hypothyroidism drug therapy, Thyroxine therapeutic use
- Abstract
Objective: Subclinical hypothyroidism (SH) is quite common in children and adolescents. The natural history of this condition and the potential effects of replacement therapy need to be known to properly manage SH. The aim of this review is to analyze: i) the spontaneous evolution of SH, in terms of the rate of reversion to euthyroidism, the persistence of SH, or the progression to over hypothyroidism; and ii) the effects of replacement therapy, with respect to auxological data, thyroid volume, and neuropsychological functions., Methods: We systematically searched PubMed, Cochrane, and EMBASE (1990-2012) and identified 39 potentially relevant articles of which only 15 articles were suitable to be included., Results and Conclusions: SH in children is a remitting process with a low risk of evolution toward overt hypothyroidism. Most of the subjects reverted to euthyroidism or remained SH, with a rate of evolution toward overt hypothyroidism ranging between 0 and 28.8%, being 50% in only one study (nine articles). The initial presence of goiter and elevated thyroglobulin antibodies, the presence of celiac disease, and a progressive increase in thyroperoxidase antibodies and TSH value predict a progression toward overt hypothyroidism. Replacement therapy is not justified in children with SH but with TSH 5-10 mIU/l, no goiter, and negative antithyroid antibodies. An increased growth velocity was observed in children treated with levothyroxine (l-T(4); two articles). l-T(4) reduced thyroid volume in 25-100% of children with SH and autoimmune thyroiditis (two studies). No effects on neuropsychological functions (one study) and posttreatment evolution of SH (one study) were reported.
- Published
- 2012
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32. Isolated GHD: investigation and implication of JAK/STAT related genes before and after rhGH treatment.
- Author
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Trovato L, Riccomagno S, Prodam F, Genoni G, Walker GE, Moia S, Bellone S, and Bona G
- Subjects
- Adolescent, Carrier Proteins genetics, Child, Dwarfism, Pituitary genetics, Female, Hormone Replacement Therapy, Human Growth Hormone deficiency, Humans, Interleukin-6 metabolism, Interleukin-8 metabolism, Janus Kinases genetics, Male, Mutation, STAT Transcription Factors genetics, Tumor Necrosis Factor-alpha metabolism, Dwarfism, Pituitary drug therapy, Dwarfism, Pituitary metabolism, Human Growth Hormone therapeutic use, Janus Kinases metabolism, STAT Transcription Factors metabolism
- Abstract
Isolated GH deficiency (IGHD) is a rare disorder that occurs as an idiopathic form in most cases. The pathway JAK/STAT promotes cellular growth and it could be implicated in this condition. In order to characterize IGHD in the pediatric population and identify genes differently expressed before and after GH therapy, we performed a quantitative evaluation of 84 genes related to the JAK/STAT pathway which, by promoting cellular growth. RT(2) Profiler PCR Array and the other/subsequent evaluations were performed in three children with severe IGHD before and after 6 months of GH therapy and in three matched normal children. Gene profiling was modified by the IGHD status and the GH therapy, with a modulation of GHR and some inflammatory genes such as CRP. We found a heterozygous nonsense mutation R43X in the GHR gene in two out of three IGHD subjects, despite a good response to therapy. After therapy cardiovascular markers linked to genes as IL6, IL8 and TNF-α displayed a trend toward reduction. Pre- and post therapy status differently affects gene expression. Mutational screening of GHR may be useful in investigating IGHD's etiology. Genes linked to inflammation suggest to evaluate cardiovascular risks also in pediatric IGHD subjects.
- Published
- 2012
- Full Text
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33. A novel familial variation of the thyroid hormone receptor beta gene (I276N) associated with resistance to thyroid hormone.
- Author
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Monzani A, Moia S, Prodam F, Walker GE, Bellone S, Petri A, and Bona G
- Subjects
- Amino Acid Substitution, Antibodies, Blocking immunology, Child, Preschool, Exons genetics, Female, Humans, Iodide Peroxidase antagonists & inhibitors, Iodide Peroxidase immunology, Mutation genetics, Mutation physiology, Mutation, Missense, Thyroglobulin antagonists & inhibitors, Thyroglobulin immunology, Thyroid Function Tests, Thyrotropin blood, Thyroid Hormone Receptors beta genetics, Thyroid Hormone Resistance Syndrome etiology, Thyroid Hormone Resistance Syndrome genetics, Thyroid Hormones physiology
- Published
- 2012
- Full Text
- View/download PDF
34. A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.
- Author
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Vivenza D, Godi M, Faienza MF, Mellone S, Moia S, Rapa A, Petri A, Bellone S, Riccomagno S, Cavallo L, Giordano M, and Bona G
- Subjects
- Adolescent, Alleles, Animals, CHO Cells, Child, Child, Preschool, Cricetinae, Cricetulus, Dwarfism, Pituitary diagnosis, Female, Humans, Infant, Male, Young Adult, Alternative Splicing genetics, Dwarfism, Pituitary genetics, Homeodomain Proteins genetics, RNA Processing, Post-Transcriptional genetics, RNA, Messenger genetics, RNA, Messenger metabolism
- Abstract
Objective: Mutations in HESX1 represent a rare cause of GH deficiency (GHD) associated with a broad spectrum of other anomalies. We searched for causative mutations in a cohort of 244 Italian patients affected by combined and isolated GHD (IGHD)., Methods: The HESX1 gene-coding region and exon-intron boundaries were screened by denaturing HPLC scanning., Results: A novel mutation adjacent to the invariant donor splice site of intron 2 (c.357+3G>A) was identified at the heterozygous state in an IGHD patient. The in vitro and in vivo mRNA analysis of the wild-type HESX1 allele revealed the presence of the whole cDNA and two isoforms lacking exon 2 and exons 2-3 respectively. The mutant HESX1 allele yielded only two splicing products, the whole cDNA and the cDNA missing exons 2-3, whereas the mRNA lacking exon 2 was absent. An in vitro assay demonstrated that the exon 2-deleted mRNA, predicting a prematurely truncated protein, is subjected to nonsense-mediated mRNA decay (NMD)., Conclusions: The c.357+3G>A mutation prevents the generation of one of the alternative isoforms normally produced by the wild-type allele, predicting a truncated HESX1 protein. The mutation is likely to cause IGHD in the heterozygous patient by interfering with the downregulation of HESX1 expression mediated by alternative splicing and NMD. Our results open new insight into the mechanism of HESX1 regulation suggesting that the coupling of alternative splicing and NMD might play a fundamental role in directing the HESX1 expression, and that the alteration of this process might lead to severe consequences.
- Published
- 2011
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35. Subclinical hypothyroidism in children and adolescents: a wide range of clinical, biochemical, and genetic factors involved.
- Author
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Rapa A, Monzani A, Moia S, Vivenza D, Bellone S, Petri A, Teofoli F, Cassio A, Cesaretti G, Corrias A, de Sanctis V, Di Maio S, Volta C, Wasniewska M, Tatò L, and Bona G
- Subjects
- Adolescent, Base Sequence, Biomarkers analysis, Body Mass Index, Child, Child, Preschool, DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Hypothyroidism classification, Hypothyroidism epidemiology, Infant, Male, Mutation, Obesity complications, Obesity genetics, Receptors, Thyrotropin genetics, Risk Factors, Thyroid Function Tests, Hypothyroidism diagnosis, Hypothyroidism etiology
- Abstract
Objective: The aim of the study was to examine clinical characteristics, biochemical parameters, and TSH-R gene variations in children and adolescents with subclinical hypothyroidism (SH) in order to evaluate their pattern of distribution in SH., Patients: We enrolled 88 patients, each having at least two TSH measurements above the upper limit of the reference range with normal free thyroid hormones and negative thyroid autoantibodies., Main Outcome Measures: Clinical characteristics included height, weight, family history of thyroid diseases, thyroid volume, and echogenicity at ultrasonography. Biochemical parameters included TSH, free thyroid hormones, thyroid autoantibodies, and adjusted daily urinary iodine excretion (UIE). Genetic variations in the TSH-R gene were assessed., Results: The prevalence of overweight/obesity, positive family history of thyroid diseases, and thyroid hypoechogenicity was 28.4, 45.5, and 22.7%, respectively. Median TSH was higher in overweight/obese patients than in normal-weight ones (7.4 vs. 5.7 muIU/ml; P = 0.04) and in overweight/obese patients with hypoechogenicity than in those with normal ultrasound pattern (8.5 vs. 6.8 muIU/ml; P = 0.04). Adjusted daily UIE was lower in subjects without than in those with a positive family history of thyroid diseases (81 vs. 120 mug/d; P = 0.001). The prevalence of a positive family history of thyroid diseases was 1.9-fold higher in patients with nonsynonymous mutations in the TSH-R gene than in patients without any mutation (80 vs. 42%; P = 0.03). A novel mutation at position 1559 in exon 10 (W520X) was detected in one child., Conclusions: Overweight/obesity, thyroid hypoechogenicity, and nonsynonymous mutations in the TSH-R gene are characterizing features of a large portion of SH children.
- Published
- 2009
- Full Text
- View/download PDF
36. Detection of auto-antibodies against cytochrome P4502E1 (CYP2E1) in chronic hepatitis C.
- Author
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Vidali M, Occhino G, Ivaldi A, Serino R, Moia S, Alchera E, Carini R, Rigamonti C, Sartori M, and Albano E
- Subjects
- Adult, Aged, Alcohol Drinking, Animals, Cell Membrane metabolism, Cytochrome P-450 CYP2E1 metabolism, Female, Hepatitis C, Chronic metabolism, Hepatitis C, Chronic physiopathology, Hepatocytes metabolism, Humans, Immunoglobulin G immunology, Male, Microscopy, Confocal, Middle Aged, Rats, Rats, Sprague-Dawley, Severity of Illness Index, Tissue Distribution, Autoantibodies blood, Cytochrome P-450 CYP2E1 immunology, Hepatitis C, Chronic immunology
- Abstract
Background/aims: Chronic hepatitis C (CHC) is often associated with auto-immune reactions. In the light of the role of alcohol in promoting CHC progression, we have investigated the possible presence of auto-reactivity against the ethanol-inducible cytochrome P4502E1 (CYP2E1) in CHC patients with and without alcohol consumption., Methods: The IgG reactivity against recombinant human CYP2E1 was evaluated by solid-phase immunoassays in 102 CHC patients with different alcohol consumption and 59 HCV-free controls., Results: Auto-antibodies against CYP2E1 were significantly (p<0.0001) increased in CHC patients as compared to controls. Anti-CYP2E1 IgG above the 97th percentile in the controls were evident in 41 (40%) CHC patients. Competition experiments revealed that CYP2E1 recognition was not due to the cross-reactivity with CYP2D6. The detection of anti-CYP2E1 IgG was unrelated to alcohol consumption and no difference in gender, age, aminotransferase levels and virus genotype was evident among the patients with or without anti-CYP2E1 auto-antibodies. However, anti-CYP2E1 auto-reactivity was significantly (p=0.025) associated with the severity of periportal/periseptal interface hepatitis. Moreover, confocal microscopy demonstrated that anti-CYP2E1 IgG associated with CHC recognized CYP2E1 exposed on the outer side of hepatocyte plasma membranes., Conclusions: HCV infection favours the breaking of self-tolerance against CYP2E1 that might contribute to hepatocyte injury.
- Published
- 2007
- Full Text
- View/download PDF
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