Search

Your search keyword '"Anna Castaldo"' showing total 76 results
Start Over Author "Anna Castaldo" Search Limiters Full Text
76 results on '"Anna Castaldo"'

1. Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset

Author

Luca Porcu, Mario Fichera, Lorenzo Nanetti, Eliana Rulli, Paola Giunti, Michael H. Parkinson, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Elisabetta Indelicato, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera, Ludger Schöls, Zofia Fleszar, Ilaria Giordano, Claire Didszun, Anna Castaldo, Myriam Rai, Thomas Klockgether, Massimo Pandolfo, Jörg B. Schulz, Kathrin Reetz, Caterina Mariotti, and for the EFACTS Study Group

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background The Scale for Assessment and Rating of Ataxia (SARA) is widely used in different types of ataxias and has been chosen as the primary outcome measure in the European natural history study for Friedreich ataxia (FA). Methods To assess distribution and longitudinal changes of SARA scores and its single items, we analyzed SARA scores of 502 patients with typical‐onset FA (

Published
2023
Full Text
View/download PDF

2. Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity

Author

Mario Fichera, Lorenzo Nanetti, Alessia Monelli, Anna Castaldo, Gloria Marchini, Marianna Neri, Xhuljano Vukaj, Mauro Marzorati, Simone Porcelli, and Caterina Mariotti

Subjects
Friedreich ataxia, wearable sensors, activity monitor, digital measure, outcome measures, Therapeutics. Pharmacology, RM1-950
Abstract

Quantitative measurement of physical activity may complement neurological evaluation and provide valuable information on patients’ daily life. We evaluated longitudinal changes of physical activity in patients with Friedreich ataxia (FRDA) using remote monitoring with wearable sensors. We performed an observational study in 26 adult patients with FRDA and 13 age-sex matched healthy controls (CTR). Participants were asked to wear two wearable sensors, at non-dominant wrist and at waist, for 7 days during waking hours. Evaluations were performed at baseline and at 1-year follow-up. We analysed the percentage of time spent in sedentary or physical activities, the Vector Magnitude on the 3 axes (VM3), and average number of steps/min. Study participants were also evaluated with ataxia clinical scales and functional tests for upper limbs dexterity and walking capability. Baseline data showed that patients had an overall reduced level of physical activity as compared to CTR. Accelerometer-based measures were highly correlated with clinical scales and disease duration in FRDA. Significantly changes from baseline to l-year follow-up were observed in patients for the following measures: (i) VM3; (ii) percentage of sedentary and light activity, and (iii) percentage of Moderate-Vigorous Physical Activity (MVPA). Reduction in physical activity corresponded to worsening in gait score of the Scale for Assessment and Rating of Ataxia. Real-life activity monitoring is feasible and well tolerated by patients. Accelerometer-based measures can quantify disease progression in FRDA over 1 year, providing objective information about patient’s motor activities and supporting the usefulness of these data as complementary outcome measure in interventional trials.

Published
2024
Full Text
View/download PDF

3. Self-Cleaning Solar Mirror Coatings: From the Laboratory Scale to Prototype Field Tests

Author

Anna Castaldo, Emilia Gambale, Giuseppe Vitiello, and Giuseppe Cara

Subjects
solar mirrors, self-cleaning, coatings, sputtering, AlN, prototype, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999
Abstract

In this study, a low-cost, scalable and robust process is proposed as an innovative method for coating solar mirrors with a self-cleaning, transparent in the full solar range and versatile material based on auxetic aluminum nitrides, previously obtained at the laboratory scale. This work presents the scaling-up of the fabrication process from the laboratory to prototypal scale and the preliminary results of outdoor self-cleaning solar mirror field tests in the demonstrative concentrating solar power (CSP) plant ENEASHIP located in Casaccia (Rome) ENEA Research Center. Prototypes with a size of 50 × 40 cm have shown stability in external conditions: no coating degradation occurred during the test campaign. Their washing restores the initial reflectance affected by soiling and the self-cleaning performance allows for the utilization of a reduced quantity of water for cleaning operations with respect to the uncoated glass of back surface mirrors. A similar self-cleaning AlN coating could be utilized on other solar components affected by soiling, such as the glass envelopes in heat-collecting elements, PV panels and other parts where a self-cleaning performance combined with an optical one is required.

Published
2024
Full Text
View/download PDF

4. Sensing Properties of Metamaterials Utilized as Self-Cleaning Coating for Solar Mirrors

Author

Anna Castaldo, Emilia Gambale, Michaela Lanchi, Giuseppe Vitiello, and Luca Turchetti

Subjects
Self-Cleaning Coatings, Solar Mirrors, Sensors, Physics, QC1-999
Abstract

In this work the experimental activity conducted on self-cleaning sensitive metamaterial coatings for solar mirrors is described. The aim of the research activity is the modulation of solar mirrors wettability in order to reduce water consumption in ordinary cleaning operation and, consequently, maintenance costs, as well as the addition of sensoring properties to the mirrors for the remote acquisition of their performance. In particular, cermet metamaterials and hybrid polymers have been selected as matrices and doped with conductive particles. Considering that in the most part of solar mirrors architectures the external layer consists of an amphiphobic alumino-silicate, which has a wetting contact angle (WCA*) of around 50°, in this work different “silica-like” based coatings have been fabricated by means of sputtering deposition (for inorganic cermet metamaterials) and spraying (for polymers ) with the aim of obtaining a more hydrophobic behavior (WCA > 90° can halve the amount of water required for mirrors cleaning), preserving mirrors optical properties and exhibiting, at the same time, electrical properties suitable to sensoring purpose.

Published
2023
Full Text
View/download PDF

5. Multimodal imaging approach in hyponatremic hypertensive syndrome. A rare case of pediatric unilateral hypoplasia of the main renal artery combined itself with stenosis and review of literature

Author

Angela Siervo, MD, Anna Castaldo, MD, Daniela Furlan, MD, Dolores Ferrara, MD, Eugenio Rossi, MD, Domenico Noviello, MD, Massimo Zeccolini, MD, and Francesco Esposito, MD

Subjects
Renovascular hypertension, Hyponatremic hypertensive syndrome, Hypoplasia, Ultrasound, Computed tomography angiography, Angioplasty, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

Renal artery stenosis (RAS) accounts for approximately 5%-10% of secondary renovascular hypertension in the pediatric population. It can occur as an isolated entity, or as a hypoplasia combined itself with stenosis. Hypoplasia, or long-segment developmental narrowing, is a rare cause of renovascular hypertension. Hyponatremic hypertensive syndrome (HHS) is a malignant complication of unilateral RAS and/or renal artery hypoplasia. Hyponatremia, hypokalemic hypochloremic metabolic alkalosis, nephrotic range proteinuria, polyuria, polydipsia, and weight loss are the most common findings. In particular, hypertension remains refractory despite aggressive antihypertensive therapy. Laboratory findings of elevated plasma levels of renin in most case suggest that the stimulation of renin release from the ischemic kidney plays an important pathophysiologic role. HHS is a diagnostic and therapeutic challenge in children. We report a case of a unilateral right renal artery hypoplasia, complicated by a segmental narrowing, in a 17-month-old male, clinically symptomatic for hypertension. We emphasize the role of ultrasound, computed tomography, and digital subtraction angiography that should be planned as reliable and non-invasive multimodal imaging approach.

Published
2023
Full Text
View/download PDF

6. What are the nursing competencies related to antimicrobial stewardship and how they have been assessed? Results from an integrative rapid review

Author

Matteo Danielis, Domenico Regano, Anna Castaldo, Maria Mongardi, and Tania Buttiron Webber

Subjects
Antimicrobial stewardship, Nurses, Nursing competency, Rapid review, Infectious and parasitic diseases, RC109-216
Abstract

Abstract Background Antimicrobial resistance issues, and the consequent demand for antimicrobial stewardship (AMS) programs, need to be investigated urgently and clearly. Considering the large amount of time nurses spend at patients’ bedside, the aim of the present study was to examine recent literature on nursing competency in AMS. Methods Drawing from Tricco and colleagues’ seven-stage process, a rapid review was performed. MEDLINE, CINAHL and EMBASE databased were searched from December 1st, 2019 until December 31st, 2021. Article screening and study selection were conducted independently by three reviewers. Data were analyzed narratively and categorized adopting an inductive thematic coding. Results Sixteen studies met the inclusion criteria and were included. Publications were mainly authored in USA (n = 4), Australia and New Zealand (n = 4) and Asia (n = 4), followed by Europe (n = 2) and Africa (n = 2). Ten studies were quantitative in design, followed by qualitative (n = 4) and mixed-methods studies (n = 2). Nursing competency in AMS seems to be influenced by a two-dimensional model: on the one hand, internal factors which consisted in knowledge, attitudes and practices and, on the other hand, external aspects which are at environmental level in terms of structures and processes. Conclusion This study provided a map of dimensions for researchers and practitioners to consider when planning clinical governance, educational activities, and research programs. Significant opportunities exist for nurses to contribute to practice, education, research, and policy efforts aimed at reducing antimicrobial resistance.

Published
2022
Full Text
View/download PDF

7. Osteofibrous dysplasia: A rare case in 3-day-old female

Author

Anna Castaldo, MD, Angela Siervo, MD, Dolores Ferrara, MD, Anna Marcella Giugliano, MD, Maria Elena Errico, MD, Massimo Zeccolini, MD, and Francesco Esposito, MD

Subjects
Osteofibrous dysplasia- Congenital – Tibia, X-ray, Magnetic resonance- Computed tomography, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

Osteofibrous dysplasia (OFD) is a nonneoplastic tumor-like lesion, made up of fibrous matrix with immature bone tissue surrounded by osteoblasts, occurring usually in the cortex of tibial diaphysis. OFD is usually seen in the first decade of life and, according to literature, it is rarely seen in the newborn period. Diagnosis of congenital OFD in the newborn is challenging because it is uncommon in this age group and can be confused with other bone benign or malignant lesions. Imaging plays an important role in diagnosis, although histological confirmation is often required. Our report presents a rare case of pathologically confirmed congenital OFD in 3-day-old female which presented with a swelling of her right leg. We will focus on imaging findings of OFD and main differential diagnosis of this lesion in neonatal age.

Published
2022
Full Text
View/download PDF

8. IMPLATED OF COVERED BILIARY PROSTHESES THROUGH ULTRASOUND-GUIDED ACCESS: PRELIMINARY RESULTS AND REVIEW OF THE LITERATURE

Author

Anna Castaldo

Subjects
interventional radiology, plastic biliary endoprostheses, biliary drains, ultrasound-guided access, metallic biliary endoprostheses, Medicine (General), R5-920
Abstract

The purpose of the study is to describe the percutaneous management and the safety and efficacy results of the implantation of covered biliary stents positioned in the main biliary tract in patients suffering from obstructive hyperbilirubinemia caused by unresectable neoplasms. We also performed a comparison between the procedural data of right or left percutaneous hepatic access. A monocentric retrospective study was performed from January 2015 to August 2020, in which we examined 27 patients who had severe hyperbilirubinemia (values > 7 mg / dL) and unresectable neoplasms with indication for palliative therapy. The treatment was performed through an interventional radiology procedure. The technical success was considered as release of the covered prosthesis. Therapeutic success was considered as patency of the metal prosthesis through reduction in bilirubin by > 4 mg / dL and the frequency of cholangitis episodes in the follow-up of the study. Overall, 7 of the 27 procedures performed from January 2015 to August 2020 were included in the study. In 2 of the 7 patients there was a microperforation of the biliary tract with spread of contrast medium. In all cases, the technical success of the procedure was observed. There were no statistically significant differences between the results of accesses from the right and left lobe. Our study suggests that the interventional radiology procedure is a safe and effective procedure. The study is limited by the small number of patients studied and needs further studies.

Published
2022
Full Text
View/download PDF

9. Metastatic choriocarcinoma with hemorrhagic complications and spontaneous ovarian hyperstimulation syndrome: A case report

Author

Davide Raffaele De Lucia, MD, Anna Castaldo, MD, Valerio D'Agostino, MD, Raffaele Ascione, MD, Ilaria Pesce, MD, Luigi Coppola, MD, Antonio Catelli, MD, and Leonardo Radice, MD

Subjects
Gestational choriocarcinoma, Ovarian hyperstimulation syndrome, Choriocarcinoma syndrome, Hypervascular metastases, Hemorrhagic metastases, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

Gestational choriocarcinoma is a malignant trophoblastic tumor arising from any gestational event, even with a long latency period, generally in the reproductive female. It is associated with a high level of beta-human chorionic gonadotropin. Its primary site is usually the uterus but not all patients have a detectable lesion in this site. Regression of the primary tumor after it has metastasized is not uncommon, and one-third of cases manifest as complications of metastatic disease. In this report we present an uncommon case of gestational choriocarcinoma with lung, liver and jejunal metastases at the time of diagnosis without evidence of pelvic disease, in 34-year-old woman. The main points of interest of our case were the development of the ovarian hyperstimulation syndrome with massive multicystic ovarian enlargement induced by high level of beta-human chorionic gonadotropin and the bleeding of jejunal and liver metastases, due to the high vascularity of the tumor tissue, a condition known as “Choriocarcinoma Syndrome”. We will focus on the radiological findings of metastases, bleeding complications and ovarian hyperstimulation syndrome.

Published
2021
Full Text
View/download PDF

10. The role of unhenanced CT in a ruptured parathyroid adenoma: A case report.

Author

Romilda Lombardi, MD, Carmine Franco Muccio, MD, Valeria D'Auria, MD, Valerio D'Agostino, MD, Stefano Genovese, MD, Alessandro Monaci, MD, Pasquale La Selva, MD, Anna Castaldo, MD, Ilaria Pesce, MD, and Alfonso Bencivenga, MD

Subjects
Parathyroid adenoma, Mediastinal hemorrhage, Susceptibility artifacts, Magnetic resonance imaging, Computed tomography, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

Acute bleeding is a rare and potentially life-threatening complication of a Parathyroid Adenoma described in just a few cases in literature. We describe the case of a healthy 53-years-old female patient without prior history of parathyroid pathology who presented with acute onset of neck and mediastinal hemorrhage. Ultrasound (US), Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) combined with laboratory tests led to the diagnosis of a bleeding Parathyroid adenoma. This case is presented to sensitize both Radiologists and Clinicians about this rare presentation that should be put into differential diagnosis of acute neck swelling and pain.

Published
2021
Full Text
View/download PDF

11. An ileal duplication cyst case report: From diagnosis to treatment

Author

Valerio D'Agostino, MD, Anna Castaldo, MD, Antonio Catelli, MD, Ilaria Pesce, MD, Stefano Genovese, MD, Luigi Coppola, MD, Alessandro Monaci, MD, Ciro Esposito, MD, and Michele Amitrano, MD

Subjects
Enteric duplication cyst, Abdominal cystic mass, Magnetic resonance imaging, Pediatric ultrasound, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

Enteric duplication cysts (EDCs) are rare congenital malformations of the children and can develop everywhere along the gastrointestinal (GI) tract, being the ileum the most frequent localization. We herein present an unusual case of duplication cyst of ileal origin who show a tubular morphology and doesn't communicate with GI lumen.A 2-month-old boy was admitted to our hospital for investigation of an anechoic formation of the lower right abdomen for the surgical planning. The patient was asymptomatic. Ultrasound (US) and magnetic resonance imaging (MRI) showed features of a cystic lesion. Laparoscopic surgery was performed and the cyst excised. Macroscopic examination and histologic findings confirmed the diagnosis of a enteric duplication cyst arising from the ileum.In a patient with an abdominal cystic mass, although asymptomatic, it's worth assessing the nature of the lesion and planning a surgery in order to avoid future complications. A correct use of diagnostic it's fundamental to identify the etiology and the characteristics of a cystic mass.

Published
2021
Full Text
View/download PDF

12. Calcium pyrophosphate deposition disease: The role of imaging in their detection and in differential diagnosis of crystal arthropathies

Author

Antonio Catelli, MD, Pietro Venetucci, MD, Anna Castaldo, MD, Giovanni loiudice, MD, Filippo Rosati Tarulli, MD, Mariapaola Carpiniello, MD, Mariateresa De Angelis, MD, and Antonio Corvino, MD

Subjects
CT, US, Chondrocalcinosis, Pseudogout, Imaging arthropathy, CPPD, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

Calcium pyrophosphate deposition disease is characterized by the deposition of pyrophosphate crystals in various joint structures. Calcium pyrophosphate deposition disease can be linked to underlying metabolic disorders such as hemochromatosis, hyperparathyroidism, hypophosphatemia, hypomagnesaemia, and hypothyroidism, all of which increase the risk of calcium pyrophosphate deposition. We present the case of a 55-year-old male who underwent diagnostic examination for the onset of recurrent joint pain in the right knee.

Published
2020
Full Text
View/download PDF

13. Amplatzer vascular plug IV in the treatment of high flow renal arteriovenous fistula: Case considerations

Author

Antonio Catelli, doctor specializing in diagnostic imaging, Giovanni Loiudice, doctor specializing in diagnostic imaging, Antonio Corvino, specialist doctor in diagnostic imaging, Anna Castaldo, doctor specializing in diagnostic imaging, Umberto Marcello Bracale, vascular surgery professor, Mario Quarantelli, specialist doctor in diagnostic imaging, and Pietro Venetucci, specialist doctor in diagnostic imaging

Subjects
Transcatheter embolization, Coils Endovascular device, Renal embolization, Plug, interventional radiology, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

Renal arteriovenous fistula is classified into idiopathic, acquired and congenital. Endovascular therapy has become the gold standard compared to surgery. We present the embolization procedure of a renal fistula postbiopsy in a 57-year-old female patient through the use of St. Jude Medical Amplatzer vascular Plug IV. Although numerous embolizing agents are available, plug type IV has numerous advantages in terms of procedure times, speed of embolization and precision of the occlusion, but with a relative increase in costs.

Published
2020
Full Text
View/download PDF

14. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Author

Lorenzo Nanetti, Daniela Di Bella, Stefania Magri, Mario Fichera, Elisa Sarto, Anna Castaldo, Alessia Mongelli, Silvia Baratta, Silvia Fenu, Marco Moscatelli, Maria Teresa Bonati, Andrea Martinuzzi, Caterina Mariotti, and Franco Taroni

Subjects
cerebellar ataxia, spastic paraplegia, hypogonadotropic hypogonadism, chorioretinal dystrophy, Gordon Holmes syndrome, Boucher Neuhauser syndrome, Neurology. Diseases of the nervous system, RC346-429
Abstract

A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc Farlane, and Laurence—Moon syndromes. These syndromes present variable and overlapping clinical symptoms, encompassing cerebellar ataxia, hypogonadotropic hypogonadism, chorioretinal dystrophy, spastic paraplegia, muscle wasting, peripheral neuropathy, and cognitive impairment. In the present study, we performed a wide genetic screening in 292 patients presenting with ataxia or spastic paraplegia using a probe-based customized gene panel, covering >200 genes associated with spinocerebellar diseases. We identified six novel and four recurrent PNPLA6 gene variants in eight patients (2.7%). Six patients presented an infantile or juvenile onset (age

Published
2022
Full Text
View/download PDF

15. Thermal Stability of Sputtered Tungsten Nitrides for Solar Thermal Applications

Author

Anna Castaldo, Emilia Gambale, and Laura Iemmo

Subjects
spectrally selective coatings, reactive sputtering, transition metals nitrides, solar absorbers, cermet, catalysts, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999
Abstract

In this work, tungsten nitrides sputtered at different powers supplied to a W target (300 W, 500 W, 700 W) and proposed for solar thermal applications as part of solar absorbers, as active and robust materials for capacity energy storage and as plasma-facing materials were annealed in vacuum at medium-high temperatures (470 °C, 580 °C) and characterized by means of X-ray diffraction (XRD), AFM, micro-Raman, FTIR, UV–VIS–-NIR, sheet, surficial energy and wetting angle measurements. From the overall set of analyses, some important modifications and differences between samples after annealing emerged (which will be useful for selecting them for specific applications) and have been correlated to sputtered W metallic clusters’ ability to adsorb, form complexes with and react with the strong N2 triple bond under the various plasma conditions of a reactive sputtering process. In particular, the 300 W film of poor crystalline quality as deposited, after annealing released entrapped nitrogen and retained its W2N structure up to a temperature of 580 °C. Despite there being no phase transition, there was an increase in sheet resistance, which is detrimental because the preservation of metallic character is an important requisite for the proposed applications. The 500 W film had a stable crystalline structure and a metallic character unmodified by increasing temperature. The 700 W film, whose structure as deposited was almost amorphous, underwent the most severe modification after annealing: crystallizing, disproportioning and giving rise to a composite and porous nature (W + WNx) not ideal for spectrally selective coating applications, but useful for tailoring capacitive energy storage devices, or for catalysts for hydrogen evolution reactions (as an alternative to platinum) in alkaline water electrolysis.

Published
2022
Full Text
View/download PDF

16. Cognitive and behavioral associated changes in manifest Huntington disease: A retrospective cross‐sectional study

Author

Simone Migliore, Giulia D’Aurizio, Sabrina Maffi, Consuelo Ceccarelli, Giovanni Ristori, Silvia Romano, Anna Castaldo, Caterina Mariotti, Giuseppe Curcio, and Ferdinando Squitieri

Subjects
behavioral symptoms, cognitive deficit, dysexecutive syndrome, HD progression, Huntington disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Abstract Introduction Behavioral and cognitive changes can be observed across all Huntington disease (HD) stages. Our multicenter and retrospective study investigated the association between cognitive and behavioral scale scores in manifest HD, at three different yearly timepoints. Methods We analyzed cognitive and behavioral domains by the Unified Huntington's Disease Rating Scale (UHDRS) and by the Problem Behaviors Assessment Short Form (PBA‐s), at three different yearly times of life (t0 or baseline, t1 after one year, t2 after two years), in 97 patients with manifest HD (mean age 48.62 ± 13.1), from three ENROLL‐HD Centers. In order to test the disease progression, we also examined patients’ motor and functional changes by the UHDRS, overtime. Results The severity of apathy and of perseveration/obsession was associated with the severity of the cognitive decline (p

Published
2021
Full Text
View/download PDF

17. Degenerative lesion of the extensor tendon V finger: Ultrasound imaging in diagnosis and therapeutic possibilities

Author

Antonio Catelli, Anna Castaldo, Pietro Venetucci, Raffaele Franzese, Mariateresa De Angelis, Rossana Serao, Luca Ginolfi, and Filippo Rosati Tarulli

Subjects
Ultrasound, Kleinert and Verdan classification, Orthopedics, Tendon rupture, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

Traumatic injuries of the extensor tendons of the hand are common and are more frequent predisposed to tendon injuries due to the presence of chronic tendon damage. We present the case of a 61-year-old woman, tailor by profession, who showed acute rupture (80 %) with degenerative etiology of the extensor tendon of the V finger of the fifth level according to Kleinert and Verdan classification.

Published
2021
Full Text
View/download PDF

18. Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages

Author

Anna Nigri, Lidia Sarro, Alessia Mongelli, Chiara Pinardi, Luca Porcu, Anna Castaldo, Stefania Ferraro, Marina Grisoli, Maria Grazia Bruzzone, Cinzia Gellera, Franco Taroni, Caterina Mariotti, and Lorenzo Nanetti

Subjects
pre-symptomatic gene carriers, spinocerebellar ataxia (SCA2), cerebellar lobule segmentation, cortical thickness, cognitive assessment, cerebellar structural MRI, Neurology. Diseases of the nervous system, RC346-429
Abstract

Spinocerebellar ataxias type 2 (SCA2) is an autosomal dominant inherited disease caused by expanded trinucleotide repeats (≥32 CAG) within the coding region of ATXN2 gene. Age of disease onset primarily depends on the length of the expanded region. The majority of subjects carrying the mutation remain free of clinical signs for few decades (“pre-symptomatic” stage), but in proximity of disease onset subtle neurophysiological, cognitive, and structural brain imaging changes may occur. Aims of the present study are to determine the time-window in which early clinical and neurodegenerative MRI changes may be identified, and to evaluate the rate of the disease progression in both preclinical and early disease phases. We performed a 1-year longitudinal study in 42 subjects: 14 SCA2 patients (mean age 39 years, disease duration 7 years, SARA score 9 points), 13 presymptomatic SCA2 subjects (preSCA2, mean age 39 years, expected time to disease onset 16 years), and 15 gene-negative healthy controls (mean age 33 years). All participants underwent genetic test, neurological examination, cognitive tests, and brain MRI. Evaluations were repeated at 1-year interval. Baseline MRI evaluations in SCA2 patients showed significant atrophy in cerebellum, brainstem, basal ganglia and cortex compared to controls, while preSCA2 subjects had isolated volume loss in the pons, and cortical thinning in specific frontal and parietal areas, namely rostral-middle-frontal and precuneus. One-year longitudinal follow-up demonstrated, in SCA2 patients, volume reduction in cerebellum, pons, superior cerebellar peduncles, and midbrain, and only in the cerebellum in preSCA2 subjects. No progression in clinical or cognitive measures was observed in preSCA2 subjects. The rate of volume loss in the cerebellum and subcortical regions greatly differed between patients and preSCA2. In conclusion, our pilot study demonstrated that MRI measures are highly sensitive to identify longitudinal structural changes in SCA2 patients, and in preSCA2 up to a decade before expected disease onset. These findings may contribute in the understanding of early neurodegenerative processes and may be useful in future therapeutical trials.

Published
2020
Full Text
View/download PDF

19. A Combined Radiomics and Machine Learning Approach to Distinguish Clinically Significant Prostate Lesions on a Publicly Available MRI Dataset

Author

Leandro Donisi, Giuseppe Cesarelli, Anna Castaldo, Davide Raffaele De Lucia, Francesca Nessuno, Gaia Spadarella, and Carlo Ricciardi

Subjects
radiomics, machine learning, MRI, prostate cancer, Photography, TR1-1050, Computer applications to medicine. Medical informatics, R858-859.7, Electronic computers. Computer science, QA75.5-76.95
Abstract

Although prostate cancer is one of the most common causes of mortality and morbidity in advancing-age males, early diagnosis improves prognosis and modifies the therapy of choice. The aim of this study was the evaluation of a combined radiomics and machine learning approach on a publicly available dataset in order to distinguish a clinically significant from a clinically non-significant prostate lesion. A total of 299 prostate lesions were included in the analysis. A univariate statistical analysis was performed to prove the goodness of the 60 extracted radiomic features in distinguishing prostate lesions. Then, a 10-fold cross-validation was used to train and test some models and the evaluation metrics were calculated; finally, a hold-out was performed and a wrapper feature selection was applied. The employed algorithms were Naïve bayes, K nearest neighbour and some tree-based ones. The tree-based algorithms achieved the highest evaluation metrics, with accuracies over 80%, and area-under-the-curve receiver-operating characteristics below 0.80. Combined machine learning algorithms and radiomics based on clinical, routine, multiparametric, magnetic-resonance imaging were demonstrated to be a useful tool in prostate cancer stratification.

Published
2021
Full Text
View/download PDF

20. Aluminium Nitride Doping for Solar Mirrors Self-Cleaning Coatings

Author

Anna Castaldo, Emilia Gambale, and Giuseppe Vitiello

Subjects
solar mirrors, aluminum nitride, sputtering deposition, self-cleaning coatings, auxetic properties, Technology
Abstract

Soiling severely reduces solar mirror performance, requiring dispendious water consumption for cleaning operations and causing an increase in the levelized cost of energy (LCOE). An emerging technology for facing this problem consists of developing transparent self-cleaning coatings, able to be washed with a small amount of water by virtue of the modulation of surficial wetting properties. Nevertheless, the beneficial effects of coatings decrease in the first year, and coated mirrors show even higher soiling than non-coated ones. Moreover, it is important that coating production processes are economically convenient, consistent with the intended reduction of overall costs. The aim of this work is the research and development of a cheap and scalable solution, compatible with mirror fabrication steps and, in such a sense, economically advantageous. It involves the substitution of the alumina last layer of solar mirrors with more hydrophobic, potentially auxetic aluminum compounds, such as nitrides. In particular, 2D inorganic aluminum nitride thin films doped with metals (such as aluminum and silver) and non-metals have been fabricated by means of reactive sputtering deposition and characterized for the purpose of studying their self-cleaning behavior, finding a trade-off between wetting properties, optical clarity, and stability.

Published
2021
Full Text
View/download PDF

21. State of the Art in Artificial Intelligence and Radiomics in Hepatocellular Carcinoma

Author

Anna Castaldo, Davide Raffaele De Lucia, Giuseppe Pontillo, Marco Gatti, Sirio Cocozza, Lorenzo Ugga, and Renato Cuocolo

Subjects
hepatocellular carcinoma, imaging, radiomics, machine learning, deep learning, Medicine (General), R5-920
Abstract

The most common liver malignancy is hepatocellular carcinoma (HCC), which is also associated with high mortality. Often HCC develops in a chronic liver disease setting, and early diagnosis as well as accurate screening of high-risk patients is crucial for appropriate and effective management of these patients. While imaging characteristics of HCC are well-defined in the diagnostic phase, challenging cases still occur, and current prognostic and predictive models are limited in their accuracy. Radiomics and machine learning (ML) offer new tools to address these issues and may lead to scientific breakthroughs with the potential to impact clinical practice and improve patient outcomes. In this review, we will present an overview of these technologies in the setting of HCC imaging across different modalities and a range of applications. These include lesion segmentation, diagnosis, prognostic modeling and prediction of treatment response. Finally, limitations preventing clinical application of radiomics and ML at the present time are discussed, together with necessary future developments to bring the field forward and outside of a purely academic endeavor.

Published
2021
Full Text
View/download PDF

22. Structural and catalytic insights into HoLaMa, a derivative of Klenow DNA polymerase lacking the proofreading domain.

Author

Michael Kovermann, Alessandra Stefan, Anna Castaldo, Sara Caramia, and Alejandro Hochkoeppler

Subjects
Medicine, Science
Abstract

We report here on the stability and catalytic properties of the HoLaMa DNA polymerase, a Klenow sub-fragment lacking the 3'-5' exonuclease domain. HoLaMa was overexpressed in Escherichia coli, and the enzyme was purified by means of standard chromatographic techniques. High-resolution NMR experiments revealed that HoLaMa is properly folded at pH 8.0 and 20°C. In addition, urea induced a cooperative folding to unfolding transition of HoLaMa, possessing an overall thermodynamic stability and a transition midpoint featuring ΔG and CM equal to (15.7 ± 1.9) kJ/mol and (3.5 ± 0.6) M, respectively. When the catalytic performances of HoLaMa were compared to those featured by the Klenow enzyme, we did observe a 10-fold lower catalytic efficiency by the HoLaMa enzyme. Surprisingly, HoLaMa and Klenow DNA polymerases possess markedly different sensitivities in competitive inhibition assays performed to test the effect of single dNTPs.

Published
2019
Full Text
View/download PDF

23. Mirroring Solar Radiation Emitting Heat Toward the Universe: Design, Production, and Preliminary Testing of a Metamaterial Based Daytime Passive Radiative Cooler

Author

Anna Castaldo, Giuseppe Vitiello, Emilia Gambale, Michela Lanchi, Manuela Ferrara, and Michele Zinzi

Subjects
cool roof, passive radiative cooling, metamaterials, prototype, Technology
Abstract

A radiative cooling device, based on a metamaterial able to mirror solar radiation and emit heat toward the universe by the transparency window of the atmosphere (8–13 µm), reaching and maintaining temperatures below ambient air, without any electricity input (passive), could have a significant impact on energy consumption of buildings and positive effects on the global warming prevention. A similar device is expected to properly work if exposed to the nocturnal sky, but during the daytime, its efficacy could be affected by its own heating under direct sunlight. In scientific literature, there are only few evidences of lab scale devices, acting as passive radiative cooling at daytime, and remaining few degrees below ambient air. This work describes the proof of concept of a daytime passive radiative cooler, entirely developed in ENEA labs, capable to reach well 12 °C under ambient temperature. In particular, the prototypal device is an acrylic box case, filled with noble gas, whose top face is a metamaterial deposited on a metal substrate covered with a transparent polymeric film. The metamaterial here tested, obtained by means of a semi-empirical approach, is a spectrally selective coating based on low cost materials, deposited as thin films by sputtering on the metallic substrate, that emits selectively in the 8–13 µm region, reflecting elsewhere UV_VIS_NIR_IR electromagnetic radiation. The prototype during the daytime sky could reach temperatures well beyond ambient temperature. However, the proof of concept experiment performed in a bright clear June day has evidenced some limitations. A critical analysis of the obtained experimental results has done, in order to individuate design revisions for the device and to identify future metamaterial improvements.

Published
2020
Full Text
View/download PDF

26. Metastatic choriocarcinoma with hemorrhagic complications and spontaneous ovarian hyperstimulation syndrome: A case report

Author

Valerio D'Agostino, Antonio Catelli, Davide Raffaele De Lucia, Leonardo Radice, Raffaele Ascione, Ilaria Pesce, Luigi Coppola, and Anna Castaldo

Subjects
medicine.medical_specialty, endocrine system, medicine.drug_class, Trophoblastic Tumor, Uterus, R895-920, Ovarian hyperstimulation syndrome, Case Report, Choriocarcinoma syndrome, Gastroenterology, MRI, Magnetic Resonance Imaging, Gestational choriocarcinoma, FSH, Follicle Stimulating Hormone, Medical physics. Medical radiology. Nuclear medicine, Vascularity, Internal medicine, medicine, b-hCG, Beta Human Chorionic Gonadotropin, OHSS, Ovarian Hyperstimulation Syndrome, Radiology, Nuclear Medicine and imaging, CE-CT, Contrast Enhancement Computed Tomography, LH, Luteinizing Hormone, MIP, Maximum Intensity Projection, TSH, Thyroid Stimulating Hormone, Hypervascular metastases, business.industry, Choriocarcinoma, US, Ultrasonography, Hemorrhagic metastases, HU, Hounsfield Unit, medicine.disease, Primary tumor, female genital diseases and pregnancy complications, medicine.anatomical_structure, embryonic structures, MPR, Multiplanar Reconstruction, Gonadotropin, medicine.symptom, business
Abstract

Gestational choriocarcinoma is a malignant trophoblastic tumor arising from any gestational event, even with a long latency period, generally in the reproductive female. It is associated with a high level of beta-human chorionic gonadotropin. Its primary site is usually the uterus but not all patients have a detectable lesion in this site. Regression of the primary tumor after it has metastasized is not uncommon, and one-third of cases manifest as complications of metastatic disease. In this report we present an uncommon case of gestational choriocarcinoma with lung, liver and jejunal metastases at the time of diagnosis without evidence of pelvic disease, in 34-year-old woman. The main points of interest of our case were the development of the ovarian hyperstimulation syndrome with massive multicystic ovarian enlargement induced by high level of beta-human chorionic gonadotropin and the bleeding of jejunal and liver metastases, due to the high vascularity of the tumor tissue, a condition known as “Choriocarcinoma Syndrome”. We will focus on the radiological findings of metastases, bleeding complications and ovarian hyperstimulation syndrome.

Published
2021

27. The role of unhenanced CT in a ruptured parathyroid adenoma: A case report

Author

Alfonso Bencivenga, Romilda Lombardi, Valeria D'Auria, Carmine Franco Muccio, Alessandro Monaci, Stefano Genovese, Anna Castaldo, Pasquale La Selva, Ilaria Pesce, and Valerio D'Agostino

Subjects
medicine.medical_specialty, medicine.diagnostic_test, business.industry, Ultrasound, Parathyroid adenoma, R895-920, Magnetic resonance imaging, Computed tomography, Case Report, medicine.disease, Medical physics. Medical radiology. Nuclear medicine, medicine, Susceptibility artifacts, Radiology, Nuclear Medicine and imaging, Radiology, Differential diagnosis, Presentation (obstetrics), Mediastinal hemorrhage, business, Complication
Abstract

Acute bleeding is a rare and potentially life-threatening complication of a Parathyroid Adenoma described in just a few cases in literature. We describe the case of a healthy 53-years-old female patient without prior history of parathyroid pathology who presented with acute onset of neck and mediastinal hemorrhage. Ultrasound (US), Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) combined with laboratory tests led to the diagnosis of a bleeding Parathyroid adenoma. This case is presented to sensitize both Radiologists and Clinicians about this rare presentation that should be put into differential diagnosis of acute neck swelling and pain.

Published
2021

28. Nurses’ experiences of accompanying patients dying during the COVID-19 pandemic: A qualitative descriptive study

Author

Anna Castaldo, Maura Lusignani, Marzia Papini, Stefano Eleuteri, and Maria Matarese

Subjects
SARS-CoV-2, COVID-19, Humans, Nurses, Pandemics, General Nursing, Qualitative Research, Settore MED/45 - Scienze Infermieristiche Generali, Cliniche e Pediatriche
Abstract

The aim was to explore nurses’ experiences of caring for and accompanying patients dying without the presence of family during the COVID-19 pandemic.A qualitative descriptive design was used.A purposive sample of registered nurses, caring for dying patients in Italian health-care settings during the COVID-19 pandemic, were selected. To capture a broad range of experiences, a maximum variety of participants about workplace, age, gender and work experience were included. A total of 31 nurses agreed to participate in the study; 28 participants were female; participants were aged 41 on average (range 25-63 years) and worked in hospitals and nursing homes in the Northern and Central Italian regions. Six focus groups were conducted from August to December 2020 through Microsoft Teams, reaching data saturation. The transcripts were analysed through inductive content analysis. The COREQ checklist was followed for study reporting.Four main categories emerged describing nurses’ experiences: hugely increased deaths in time of COVID-19; ensuring physical, emotional, interpersonal and spiritual care for dying patients and supporting their families despite difficulties; ensuring care procedures of patients’ bodies after death and psychological consequences of caring for dying people during the pandemic.Registered nurses provided physical, spiritual and emotional care to dying patients during the pandemic, despite limited resources and knowledge, standing in for relatives who were not allowed to visit them; the experiences of caring for dying patients in the absence of the family caused emotional distress in nurses.Health-care systems should develop guidelines aiming to meet the psychological needs of dying people in case of restrictions on patients’ family visits. Health-care administrators should offer services to support the grieving process of relatives who cannot accompany dying patients and to reduce emotional distress in nurses caring for dying patients.

Published
2022

29. An ileal duplication cyst case report: From diagnosis to treatment

Author

Ilaria Pesce, Valerio D'Agostino, Ciro Esposito, Alessandro Monaci, M. Amitrano, Luigi Coppola, Anna Castaldo, Antonio Catelli, and Stefano Genovese

Subjects
Laparoscopic surgery, medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.medical_treatment, R895-920, Lumen (anatomy), Magnetic resonance imaging, medicine.disease, Enteric duplication cyst, Asymptomatic, Lesion, Medical physics. Medical radiology. Nuclear medicine, medicine.anatomical_structure, Pediatric ultrasound, Medicine, Abdomen, Radiology, Nuclear Medicine and imaging, Cyst, Radiology, medicine.symptom, business, Abdominal cystic mass
Abstract

Enteric duplication cysts (EDCs) are rare congenital malformations of the children and can develop everywhere along the gastrointestinal (GI) tract, being the ileum the most frequent localization. We herein present an unusual case of duplication cyst of ileal origin who show a tubular morphology and doesn't communicate with GI lumen. A 2-month-old boy was admitted to our hospital for investigation of an anechoic formation of the lower right abdomen for the surgical planning. The patient was asymptomatic. Ultrasound (US) and magnetic resonance imaging (MRI) showed features of a cystic lesion. Laparoscopic surgery was performed and the cyst excised. Macroscopic examination and histologic findings confirmed the diagnosis of a enteric duplication cyst arising from the ileum. In a patient with an abdominal cystic mass, although asymptomatic, it's worth assessing the nature of the lesion and planning a surgery in order to avoid future complications. A correct use of diagnostic it's fundamental to identify the etiology and the characteristics of a cystic mass.

Published
2021

30. Management of hip fracture in the older people: rationale and design of the Italian consensus on the orthogeriatric co-management

Author

Luigi Tritapepe, Anna Castaldo, Mauro Roselli, Graziano Onder, Marco Paoletta, Amedeo Zurlo, Astrid Ursula Behr, Marco Bravi, Claudio Cricelli, Mauro Ruggeri, Antonio De Vincentis, Giovanni Iolascon, Giuseppe Bellelli, Fabio Santacaterina, E. Martini, Stefania Maggi, Lucia Galluzzo, Raffaele Antonelli Incalzi, Alberto Momoli, De Vincentis, A, Behr, A, Bellelli, G, Bravi, M, Castaldo, A, Cricelli, C, Galluzzo, L, Iolascon, G, Maggi, S, Martini, E, Momoli, A, Onder, G, Paoletta, M, Roselli, M, Ruggeri, M, Santacaterina, F, Tritapepe, L, Zurlo, A, Antonelli Incalzi, R, De Vincentis, A., Behr, A. U., Bellelli, G., Bravi, M., Castaldo, A., Cricelli, C., Galluzzo, L., Iolascon, G., Maggi, S., Martini, E., Momoli, A., Onder, G., Paoletta, M., Roselli, M., Ruggeri, M., Santacaterina, F., Tritapepe, L., Zurlo, A., and Antonelli Incalzi, R.

Subjects
Aging, Consensus, Consensu, Comorbidity, Elderly, Hip fracture, Orthogeriatric co-management, Aged, Aged, 80 and over, Delivery of Health Care, Hip Fractures, Humans, Italy, Orthopedic Procedures, Recovery of Function, 03 medical and health sciences, 0302 clinical medicine, Nursing, Multidisciplinary approach, 80 and over, Content validity, medicine, 030212 general & internal medicine, Health policy, computer.programming_language, Out of hospital, business.industry, medicine.disease, Functional recovery, Orthopedic Procedure, Geriatrics and Gerontology, business, Older people, computer, 030217 neurology & neurosurgery, Delphi, Human
Abstract

Background: Hip fracture (HF) is a burdening health problem in older people. The orthogeriatric approach has been shown to favour functional recovery and reduce mortality, but its implementation in clinical practice cannot rely upon shared management protocols and greatly varies among different healthcare systems. Here, we present the rationale and design of the Italian consensus document on the management of HF in older people. Methods: A panel of multidisciplinary experts from ten Italian scientific societies involved in the care of HF and including geriatricians, orthopaedics, anaesthesiologists, physiatrists and general practitioners, will join to establish the content validity of a list of statements. A Delphi consensus methodology will be applied to obtain the opinions of the panel and to provide the final recommendations. Objectives: The document will include indications on the following relevant topics: (1) optimal care path of older subjects with HF; (2) management of comorbidities and pre-operative alteration of physiological parameters; (3) management of selected categories of patients at expected increased risk of adverse outcomes; (4) continuity of care out of hospital; (5) screening and correction of risk factors for HF in older subjects; (6) information and divulgation of shared management strategies. The objective of the consensus will be to inform clinicians, patients, researchers, and health policy makers about the best management strategies for HF in older people and their inherent limitations, thus facilitating communication between stakeholders and promoting the most cost/effective models of care.

Published
2020

31. Cognitive Reserve in Early Manifest Huntington Disease Patients: Leisure Time Is Associated with Lower Cognitive and Functional Impairment

Author

Simone Migliore, Giulia D’Aurizio, Eugenia Scaricamazza, Sabrina Maffi, Consuelo Ceccarelli, Giovanni Ristori, Silvia Romano, Anna Castaldo, Mario Fichera, Giuseppe Curcio, Ferdinando Squitieri, Migliore, S, D'Aurizio, G, Scaricamazza, E, Maffi, S, Ceccarelli, C, Ristori, G, Romano, S, Castaldo, A, Fichera, M, Curcio, G, and Squitieri, F

Subjects
cognition, Cognition, Cognitive engagement, Executive functions, Neurodegenerative, Executive function, neurodegenerative, Medicine (miscellaneous), Medicine, cognitive engagement, executive functions, Article
Abstract

We focused on Cognitive Reserve (CR) in patients with early Huntington Disease (HD) and investigated whether clinical outcomes might be influenced by lifetime intellectual enrichment over time. CR was evaluated by means of the Cognitive Reserve Index questionnaire (CRIq), an internationally validated scale which includes three sections: education, working activity, and leisure time. The clinical HD variables were quantified at three different time points (baseline-t0, 1 year follow up-t1 and 2 years follow up-t2) as per the Unified Huntington’s Disease Rating Scale (UHDRS), an internationally standardized and validated scale including motor, cognitive, functional and behavioral assays. Our sample consisted of 75 early manifest patients, withclinical stage scored according to the Total Functional Capacity (TFC) scale. Our correlational analysis highlighted a significant inverse association between CRIq leisure time (CRIq_LA) and longitudinal functional impairment (namely, the differential TFC score between t2 and t0 or ΔTFC) (p < 0.05), and the multidimensional progression of HD as measured by the composite UHDRS (cUHDRS, p < 0.01). CRIq_LA was significantly and positively associated with better cognitive performances at all time points (p < 0.05). Our results suggest that higher is the CRIq_LA, milder is the progression of HD in terms of functional, multidimensional and cognitive outcome.

Published
2022

32. Late-onset Huntington’s disease with 40–42 CAG expansion

Author

Luca Romano, Anna Castaldo, M. Giuliana Cislaghi, Antonella Macerollo, Caterina Mariotti, Cinzia Gellera, E. Capiluppi, Lorenzo Nanetti, Paola Rebora, Capiluppi, E, Romano, L, Rebora, P, Nanetti, L, Castaldo, A, Gellera, C, Mariotti, C, Macerollo, A, and Cislaghi, M

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, Neurology, Epidemiology, Age of onset, Dermatology, Disease, Severity of Illness Index, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Trinucleotide Repeats, Huntington's disease, Internal medicine, medicine, Humans, Family history, Pathological, Aged, Retrospective Studies, business.industry, General Medicine, Middle Aged, medicine.disease, Psychiatry and Mental health, Huntington Disease, 030104 developmental biology, Cohort, Disease Progression, Female, Original Article, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Huntington’s disease
Abstract

Introduction Huntington’s disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by a CAG expansion greater than 35 in the IT-15 gene. There is an inverse correlation between the number of pathological CAG and the age of onset. However, CAG repeats between 40 and 42 showed a wider onset variation. We aimed to investigate potential clinical differences between patients with age at onset ≥ 60 years (late onset-HD) and patients with age at onset between 30 and 59 years (common-onset HD) in a cohort of patients with the same CAG expansions (40–42). Methods A retrospective analysis of 66 HD patients with 40–41–42 CAG expansion was performed. Patients were investigated with the Unified Huntington’s Disease Rating Scale (subitems I–II–III and Total Functional Capacity, Functional Assessment and Stage of Disease). Data were analysed using χ2, Fisher’s test, t test and Pearson’s correlation coefficient. GENMOD analysis and Kaplan-Meier analysis were used to study the disease progression. Results The age of onset ranged from 39 to 59 years in the CO subgroup, whereas the LO subgroup showed an age of onset from 60 to 73 years. No family history was reported in 31% of the late-onset in comparison with 20% in common-onset HD (p = 0.04). No difference emerged in symptoms of onset, in clinical manifestations and in progression of disease between the two groups. Conclusion There were no clinical differences between CO and LO subgroups with 40–42 CAG expansion. There is a need of further studies on environmental as well genetic variables modifying the age at onset.

Published
2019

33. Fluoxetine increases brain MeCP2 immuno-positive cells in a female Mecp2 heterozygous mouse model of Rett syndrome through endogenous serotonin

Author

Giuseppina Sacchetti, Anna Castaldo, Mirjana Carli, Roberto W. Invernizzi, and Claudia Villani

Subjects
0301 basic medicine, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Serotonin, Methyl-CpG-Binding Protein 2, Science, Hippocampus, Rett syndrome, Mice, Transgenic, Striatum, Article, MECP2, 03 medical and health sciences, Mice, 0302 clinical medicine, Internal medicine, Fluoxetine, mental disorders, medicine, Rett Syndrome, Animals, Pharmacology, Multidisciplinary, business.industry, Brain, medicine.disease, Antidepressive Agents, Motor coordination, nervous system diseases, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Endocrinology, Pharmacodynamics, Antidepressant, Medicine, Diseases of the nervous system, Female, business, 030217 neurology & neurosurgery, Neurological disorders, medicine.drug, Neuroscience
Abstract

Motor skill deficit is a common and invalidating symptom of Rett syndrome (RTT), a rare disease almost exclusively affecting girls during the first/second year of life. Loss-of-function mutations of the methyl-CpG-binding protein2 (MECP2; Mecp2 in rodents) gene is the cause in most patients. We recently found that fluoxetine, a selective serotonin (5-HT) reuptake inhibitor and antidepressant drug, fully rescued motor coordination deficits in Mecp2 heterozygous (Mecp2 HET) mice acting through brain 5-HT. Here, we asked whether fluoxetine could increase MeCP2 expression in the brain of Mecp2 HET mice, under the same schedule of treatment improving motor coordination. Fluoxetine increased the number of MeCP2 immuno-positive (MeCP2+) cells in the prefrontal cortex, M1 and M2 motor cortices, and in dorsal, ventral and lateral striatum. Fluoxetine had no effect in the CA3 region of the hippocampus or in any of the brain regions of WT mice. Inhibition of 5-HT synthesis abolished the fluoxetine-induced rise of MeCP2+ cells. These findings suggest that boosting 5-HT transmission is sufficient to enhance the expression of MeCP2 in several brain regions of Mecp2 HET mice. Fluoxetine-induced rise of MeCP2 could potentially rescue motor coordination and other deficits of RTT.

Published
2021

34. Degenerative lesion of the extensor tendon V finger: Ultrasound imaging in diagnosis and therapeutic possibilities

Author

Rossana Serao, Luca Ginolfi, Pietro Venetucci, Antonio Catelli, Anna Castaldo, Raffaele Franzese, Mariateresa De Angelis, and Filippo Rosati Tarulli

Subjects
musculoskeletal diseases, medicine.medical_specialty, R895-920, Article, 030218 nuclear medicine & medical imaging, Lesion, Medical physics. Medical radiology. Nuclear medicine, 03 medical and health sciences, 0302 clinical medicine, Kleinert and Verdan classification, Ultrasound, medicine, Radiology, Nuclear Medicine and imaging, Extensor tendons, business.industry, Tendon rupture, musculoskeletal system, Surgery, Tendon, medicine.anatomical_structure, Orthopedics, 030220 oncology & carcinogenesis, Orthopedic surgery, Ultrasound imaging, medicine.symptom, business
Abstract

Traumatic injuries of the extensor tendons of the hand are common and are more frequent predisposed to tendon injuries due to the presence of chronic tendon damage. We present the case of a 61-year-old woman, tailor by profession, who showed acute rupture (80 %) with degenerative etiology of the extensor tendon of the V finger of the fifth level according to Kleinert and Verdan classification.

Published
2021

35. Evaluation of feasibility and costs of alternative magnetic divertor configurations for DEMO

Author

H. Reimerdes, S. Ha, S. Merriman, R. Ambrosino, Anna Castaldo, V. P. Loschiavo, Ambrosino, R., Castaldo, A., Ha, S., Loschiavo, V. P., Merriman, S., and Reimerdes, H.

Subjects
Optimization problem, Cost, Computer science, costs, 01 natural sciences, 7. Clean energy, 010305 fluids & plasmas, alternative divertor concepts, 0103 physical sciences, Alternative divertor concepts, Costs, DEMO tokamak, General Materials Science, Snowflake, 010306 general physics, Civil and Structural Engineering, demo tokamak, Mechanical Engineering, Divertor, Alternative divertor concept, Fusion power, Aspect ratio (image), Power (physics), Nuclear Energy and Engineering, Null (SQL), Electromagnetic coil, Systems engineering, optimization problem
Abstract

The European roadmap to the realisation of fusion energy has identified a number of technological and scientific challenges towards the development of a DEMO reactor. Mission 2 ‘Heat-exhaust systems’ includes the investigation of alternative divertor configurations such as the snowflake, X and super-X divertors as a reliable solution for the power exhaust problem. This paper, starting from the geometrical description of a conventional European DEMO scenario with an aspect ratio of 3.1 and a reference Single Null configuration, firstly illustrates the objectives, the figure of merits and the constraints considered in the design of alternative configurations. DEMO descriptions for Double Null, Snowflake, X-divertor and Super-X configurations optimizing the plasma shape, the machine geometry and the PF coil system will be proposed. A comparison of costs and benefits of the various configurations is given, with particular reference to the power exhaust issues.

Published
2019

36. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

Author

Thomas Klopstock, M. Fichera, Francisco Javier Rodríguez de Rivera Garrido, Caterina Mariotti, Almut Turid Bischoff, Claudia Stendel, Christian Hohenfeld, Alexandra Durr, Anna Castaldo, Ilaria Giordano, Stefanie N. Hayer, Alessia Mongelli, Marie Lorraine Monin, Massimo Pandolfo, Kathrin Reetz, Katarina Manso, Gessica Vasco, Mar O'Callaghan, Nita Solanky, Matthias Amprosi, Claire Ewenczyk, Florian Holtbernd, Wolfgang Nachbauer, Sylvia Boesch, Enrico Bertini, Francesc Palau, Cinzia Gellera, Elisabetta Indelicato, Florentine Radelfahr, Imis Dogan, Marianthi Breza, Ludger Schöls, Christian Rummey, Michael H Parkinson, Andreas Eigentler, Jörg B. Schulz, Lorenzo Nanetti, Claire Didszun, Paola Giunti, Gilbert Thomas-Black, Nikolina Brcina, Marie Biet, Ralf-Dieter Hilgers, Robyn Labrum, Thomas Klockgether, Myriam Rai, Georgios Koutsis, Reetz, K, Dogan, I, Hilgers, R, Giunti, P, Parkinson, M, Mariotti, C, Nanetti, L, Durr, A, Ewenczyk, C, Boesch, S, Nachbauer, W, Klopstock, T, Stendel, C, Rodriguez de Rivera Garrido, F, Rummey, C, Schols, L, Hayer, S, Klockgether, T, Giordano, I, Didszun, C, Rai, M, Pandolfo, M, Schulz, J, Labrum, R, Thomas-Black, G, Manso, K, Solanky, N, Gellera, C, Mongelli, A, Castaldo, A, Fichera, M, Palau, F, O'Callaghan, M, Biet, M, Monin, M, Eigentler, A, Indelicato, E, Amprosi, M, Radelfahr, F, Bischoff, A, Holtbernd, F, Brcina, N, Hohenfeld, C, Koutsis, G, Breza, M, Bertini, E, and Vasco, G

Subjects
Registrie, 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, Time Factors, Time Factor, pathology [Friedreich Ataxia], physiopathology [Friedreich Ataxia], Late onset, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Activities of Daily Living, medicine, Humans, ddc:610, Registries, Mobility Limitation, business.industry, Middle Aged, complications [Friedreich Ataxia], Clinical trial, Europe, 030104 developmental biology, Friedreich Ataxia, Ambulatory, Cohort, Disease Progression, Observational study, Female, Neurology (clinical), Cohort Studie, Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery, Human, Cohort study
Abstract

Summary Background The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess progression characteristics and to identify patient groups with differential progression rates based on longitudinal 4-year data to inform upcoming clinical trials in Friedreich's ataxia. Methods EFACTS is a prospective, observational cohort study based on an ongoing and open-ended registry. Patients with genetically confirmed Friedreich's ataxia were seen annually at 11 clinical centres in seven European countries (Austria, Belgium, France, Germany, Italy, Spain, and the UK). Data from baseline to 4-year follow-up were included in the current analysis. Our primary endpoints were the Scale for the Assessment and Rating of Ataxia (SARA) and the activities of daily living (ADL). Linear mixed-effect models were used to analyse annual disease progression for the entire cohort and subgroups defined by age of onset and ambulatory abilities. Power calculations were done for potential trial designs. This study is registered with ClinicalTrials.gov , NCT02069509 . Findings Between Sept 15, 2010, and Nov 20, 2018, of 914 individuals assessed for eligibility, 602 patients were included. Of these, 552 (92%) patients contributed data with at least one follow-up visit. Annual progression rate for SARA was 0·82 points (SE 0·05) in the overall cohort, and higher in patients who were ambulatory (1·12 [0·07]) than non-ambulatory (0·50 [0·07]). ADL worsened by 0·93 (SE 0·05) points per year in the entire cohort, with similar progression rates in patients who were ambulatory (0·94 [0·07]) and non-ambulatory (0·91 [0·08]). Although both SARA and ADL showed slightly greater worsening in patients with typical onset (symptom onset at ≤24 years) than those with late onset (symptom onset ≥25 years), differences in progression slopes were not significant. For a 2-year parallel-group trial, 230 (115 per group) patients would be required to detect a 50% reduction in SARA progression at 80% power: 118 (59 per group) if only individuals who are ambulatory are included. With ADL as the primary outcome, 190 (95 per group) patients with Friedreich's ataxia would be needed, and fewer patients would be required if only individuals with early-onset are included. Interpretation Our findings for stage-dependent progression rates have important implications for clinicians and researchers, as they provide reliable outcome measures to monitor disease progression, and enable tailored sample size calculation to guide upcoming clinical trial designs in Friedreich's ataxia. Funding European Commission, Voyager Therapeutics, and EuroAtaxia.

Published
2021

37. First principle-based multi-channel integrated modelling in support of the design of the Divertor Tokamak Test facility

Author

F. Koechl, L. Aucone, Silvio Ceccuzzi, P. Mantica, M. Dicorato, Piero Agostinetti, Anna Castaldo, H. Nyström, Jonathan Citrin, Lorenzo Frassinetti, Lorenzo Figini, P. Vincenzi, A. Mariani, B. Baiocchi, I. Casiraghi, L. Balbinot, Gustavo Granucci, M. Valisa, Thomas Johnson, R. Ambrosino, P. Innocente, Casiraghi, I., Mantica, P., Koechl, F., Ambrosino, R., Baiocchi, B., Castaldo, A., Citrin, J., Dicorato, M., Frassinetti, L., Mariani, A., Vincenzi, P., Agostinetti, P., Aucone, L., Balbinot, L., Ceccuzzi, S., Figini, L., Granucci, G., Innocente, P., Johnson, T., Nystrom, H., Valisa, M., Science and Technology of Nuclear Fusion, Casiraghi, I, Mantica, P, Koechl, F, Ambrosino, R, Baiocchi, B, Castaldo, A, Citrin, J, Dicorato, M, Frassinetti, L, Mariani, A, Vincenzi, P, Agostinetti, P, Aucone, L, Balbinot, L, Ceccuzzi, S, Figini, L, Granucci, G, Innocente, P, Johnson, T, Nyström, H, and Valisa, M

Subjects
Physics, divertor tokamak test facility, Nuclear and High Energy Physics, Tokamak, Test facility, Nuclear engineering, Divertor, Condensed Matter Physics, law.invention, Divertor Tokamak Test facility, integrated modelling, quasi-linear transport model, law, integrated modelling, First principle, quasi-linear transport models, Multi channel
Abstract

An intensive integrated modelling work of the main scenarios of the new Divertor Tokamak Test (DTT) facility with a single null divertor configuration has been performed using first principle quasi-linear transport models, in support of the design of the device and of the definition of its scientific work programme. First results of this integrated modelling work on DTT (R 0 = 2.14 m, a = 0.65 m) are presented here along with outcome of the gyrokinetic simulations used to validate the reduced models in the DTT range of parameters. As a result of this work, the heating mix has been defined, the size of device has been increased to R 0 = 2.19 m and a = 0.70 m, the use of pellets for fuelling has been recommended and reference profiles for diagnostic design, estimates of neutron yields and fast particle losses have been made available.

Published
2021

38. A Combined Radiomics and Machine Learning Approach to Distinguish Clinically Significant Prostate Lesions on a Publicly Available MRI Dataset

Author

Francesca Nessuno, Giuseppe Cesarelli, Gaia Spadarella, Davide Raffaele De Lucia, Carlo Ricciardi, Anna Castaldo, Leandro Donisi, Donisi, Leandro, Cesarelli, Giuseppe, Castaldo, Anna, De Lucia, Davide Raffaele, Nessuno, Francesca, Spadarella, Gaia, Ricciardi, Carlo, Donisi, L., Cesarelli, G., Castaldo, A., De Lucia, D. R., Nessuno, F., Spadarella, G., and Ricciardi, C.

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Feature selection, Machine learning, computer.software_genre, Article, Prostate cancer, Naive Bayes classifier, Radiomics, Prostate, medicine, Photography, Radiology, Nuclear Medicine and imaging, Statistical analysis, Electrical and Electronic Engineering, K nearest neighbour, TR1-1050, business.industry, Univariate, QA75.5-76.95, medicine.disease, prostate cancer, Computer Graphics and Computer-Aided Design, medicine.anatomical_structure, machine learning, radiomics, Electronic computers. Computer science, Computer Vision and Pattern Recognition, Artificial intelligence, business, computer, MRI
Abstract

Although prostate cancer is one of the most common causes of mortality and morbidity in advancing-age males, early diagnosis improves prognosis and modifies the therapy of choice. The aim of this study was the evaluation of a combined radiomics and machine learning approach on a publicly available dataset in order to distinguish a clinically significant from a clinically non-significant prostate lesion. A total of 299 prostate lesions were included in the analysis. A univariate statistical analysis was performed to prove the goodness of the 60 extracted radiomic features in distinguishing prostate lesions. Then, a 10-fold cross-validation was used to train and test some models and the evaluation metrics were calculated, finally, a hold-out was performed and a wrapper feature selection was applied. The employed algorithms were Naïve bayes, K nearest neighbour and some tree-based ones. The tree-based algorithms achieved the highest evaluation metrics, with accuracies over 80%, and area-under-the-curve receiver-operating characteristics below 0.80. Combined machine learning algorithms and radiomics based on clinical, routine, multiparametric, magnetic-resonance imaging were demonstrated to be a useful tool in prostate cancer stratification.

Published
2021

39. Cognitive and behavioral associated changes in manifest Huntington disease: A retrospective cross-sectional study

Author

Consuelo Ceccarelli, Caterina Mariotti, Simone Migliore, Sabrina Maffi, Anna Castaldo, Giovanni Ristori, Silvia Romano, Ferdinando Squitieri, Giulia D’Aurizio, and Giuseppe Curcio

Subjects
Adult, medicine.medical_specialty, behavioral symptoms, Perseveration, HD progression, Neurosciences. Biological psychiatry. Neuropsychiatry, Audiology, Irritability, dysexecutive syndrome, Severity of Illness Index, 050105 experimental psychology, cognitive deficit, 03 medical and health sciences, Behavioral Neuroscience, Cognition, 0302 clinical medicine, hd progression, huntington disease, medicine, Humans, Verbal fluency test, 0501 psychology and cognitive sciences, Apathy, Cognitive decline, Cognitive deficit, Original Research, Retrospective Studies, Problem Behavior, Dysexecutive syndrome, business.industry, 05 social sciences, Middle Aged, Huntington disease, behavioral symptoms, cognitive deficit, dysexecutive syndrome, HD progression, Huntington disease, Cross-Sectional Studies, medicine.symptom, business, 030217 neurology & neurosurgery, RC321-571
Abstract

Introduction Behavioral and cognitive changes can be observed across all Huntington disease (HD) stages. Our multicenter and retrospective study investigated the association between cognitive and behavioral scale scores in manifest HD, at three different yearly timepoints. Methods We analyzed cognitive and behavioral domains by the Unified Huntington's Disease Rating Scale (UHDRS) and by the Problem Behaviors Assessment Short Form (PBA‐s), at three different yearly times of life (t0 or baseline, t1 after one year, t2 after two years), in 97 patients with manifest HD (mean age 48.62 ± 13.1), from three ENROLL‐HD Centers. In order to test the disease progression, we also examined patients’ motor and functional changes by the UHDRS, overtime. Results The severity of apathy and of perseveration/obsession was associated with the severity of the cognitive decline (p, Severity of apathy and perseveration/obsessions are significantly associated with the severity of the executive function impairment. This association may represent an additional key factor contributing to the severity of Huntington disease course. This cognitive‐behavior pattern determines a common underlying deficit attributable to a dysexecutive syndrome.

Published
2021

40. Air-stable low-emissive AlN-Ag based coatings for energy-efficient retrofitting of existing windows

Author

Alessandro Antonaia, Manuela Ferrara, M.L. Addonizio, Anna Castaldo, Addonizio, M. L., Ferrara, M., Castaldo, A., and Antonaia, A.

Subjects
Materials science, Silver ultrathin films, Low-emissive coating, Substrate (electronics), engineering.material, law.invention, chemistry.chemical_compound, Coating, law, Sputtering, Transmittance, Air stability, Electrical and Electronic Engineering, Composite material, Civil and Structural Engineering, Thin layers, Aluminium nitride, Mechanical Engineering, Building and Construction, Building retrofit, Anti-reflective coating, chemistry, engineering, Layer (electronics)
Abstract

Low-emissive (low-E) coatings, based on alternating thin layers of aluminium nitride (AlN) and ultra-thin layers of silver (Ag), have been deposited by sputtering for use on glass surface outside the inert gas filled gap of insulating multiple-pane windows. Such low-E coatings being optical filters containing thin metallic layers, undergo degradation phenomena when exposed to air with the appearance of a bluish colour and delamination. An in-depth study has been conducted to identify the degradation mechanism in moist atmosphere by means of several characterization techniques before and after accelerated aging tests. Photoluminescence measurements have evidenced formation of the complex defect VAl-3ON at the AlN/Ag interfaces as responsible for the hydrolytic degradation process. Relationship between degradation process and chemical-physical nature of AlN lattice defects has been established. Modifications in the sputtering process of AlN films were implemented and the antireflective layer was replaced with less hydrophilic material. The coating deposited with modified structure has been found to be highly stable and with excellent thermo-optical performances (SHGC 0.54, visible transmittance 80%, emissivity 4.8%). The modified low-E coatings have been also deposited on polycarbonate substrate with similar results of high stability in the air. This stabilized coating on polymer can be considered an excellent candidate for low-cost energy-saving retrofitting.

Published
2021

41. Fiberoptic endoscopic evaluation of swallowing in early-to-advanced stage Huntington’s disease

Author

Andrea Ciammola, Federica Solca, Nicole Pizzorni, Caterina Mariotti, Jenny Sassone, Antonio Schindler, Lorenzo Nanetti, Laura Lazzari, Vincenzo Silani, Marco Stramba-Badiale, Anna Castaldo, Agnese Rossi, Francesca Pirola, Barbara Poletti, Schindler, A., Pizzorni, N., Sassone, J., Nanetti, L., Castaldo, A., Poletti, B., Solca, F., Pirola, F., Lazzari, L., Stramba-Badiale, M., Rossi, A., Silani, V., Mariotti, C., and Ciammola, A.

Subjects
Pediatrics, medicine.medical_specialty, lcsh:Medicine, Disease, Aspiration pneumonia, Pneumonia, Aspiration, Severity of Illness Index, Article, 030507 speech-language pathology & audiology, 03 medical and health sciences, 0302 clinical medicine, Huntington's disease, Swallowing, Severity of illness, otorhinolaryngologic diseases, medicine, Fiber Optic Technology, Humans, Cognitive decline, lcsh:Science, Cause of death, Multidisciplinary, business.industry, lcsh:R, Respiratory Aspiration, medicine.disease, Dysphagia, Deglutition, Huntington Disease, Case-Control Studies, Disease Progression, lcsh:Q, Esophagoscopy, medicine.symptom, Deglutition Disorders, 0305 other medical science, business, Neurological disorders, 030217 neurology & neurosurgery
Abstract

Huntington's disease (HD) is a neurodegenerative disorder characterized by motor disturbances, cognitive decline, and behaviour changes. A well-recognized feature of advanced HD is dysphagia, which leads to malnutrition and aspiration pneumonia, the latter being the primary cause of death in HD. Previous studies have underscored the importance of dysphagia in HD patients with moderate-to-advanced stage disease, but it is unclear whether dysphagia affects patients already at an early stage of disease and whether genetic or clinical factors can predict its severity. We performed fiberoptic endoscopic evaluation of swallowing (FEES) in 61 patients with various stages of HD. Dysphagia was found in 35% of early-stage, 94% of moderate-stage, and 100% of advanced-stage HD. Silent aspiration was found in 7.7% of early-stage, 11.8% of moderate-stage, and 27.8% of advanced-stage HD. A strong correlation was observed between disease progression and dysphagia severity: worse dysphagia was associated with worsening of motor symptoms. Dysphagia severity as assessed by FEES correlated with Huntington’s Disease Dysphagia Scale scores (a self-report questionnaire specific for evaluating swallowing in HD). The present findings add to our understanding of dysphagia onset and progression in HD. A better understanding of dysphagia onset and progression in HD may inform guidelines for standard clinical care in dysphagia, its recognition, and management.

Published
2020

42. Mirroring Solar Radiation Emitting Heat Toward the Universe: Design, Production, and Preliminary Testing of a Metamaterial Based Daytime Passive Radiative Cooler

Author

Manuela Ferrara, Michela Lanchi, Anna Castaldo, Emilia Gambale, Michele Zinzi, Giuseppe Vitiello, Castaldo, A., Vitiello, G., Gambale, E., Lanchi, M., Ferrara, M., and Zinzi, M.

Subjects
Daytime, Control and Optimization, Materials science, Radiative cooling, 020209 energy, cool roof, Energy Engineering and Power Technology, 02 engineering and technology, Substrate (electronics), lcsh:Technology, Optics, 0202 electrical engineering, electronic engineering, information engineering, Radiative transfer, Astrophysics::Solar and Stellar Astrophysics, Electrical and Electronic Engineering, Thin film, Engineering (miscellaneous), Sunlight, passive radiative cooling, Renewable Energy, Sustainability and the Environment, business.industry, lcsh:T, Metamaterial, 021001 nanoscience & nanotechnology, metamaterials, Astrophysics::Earth and Planetary Astrophysics, Reflective surfaces, prototype, 0210 nano-technology, business, Energy (miscellaneous)
Abstract

A radiative cooling device, based on a metamaterial able to mirror solar radiation and emit heat toward the universe by the transparency window of the atmosphere (8&ndash, 13 &micro, m), reaching and maintaining temperatures below ambient air, without any electricity input (passive), could have a significant impact on energy consumption of buildings and positive effects on the global warming prevention. A similar device is expected to properly work if exposed to the nocturnal sky, but during the daytime, its efficacy could be affected by its own heating under direct sunlight. In scientific literature, there are only few evidences of lab scale devices, acting as passive radiative cooling at daytime, and remaining few degrees below ambient air. This work describes the proof of concept of a daytime passive radiative cooler, entirely developed in ENEA labs, capable to reach well 12 &deg, C under ambient temperature. In particular, the prototypal device is an acrylic box case, filled with noble gas, whose top face is a metamaterial deposited on a metal substrate covered with a transparent polymeric film. The metamaterial here tested, obtained by means of a semi-empirical approach, is a spectrally selective coating based on low cost materials, deposited as thin films by sputtering on the metallic substrate, that emits selectively in the 8&ndash, m region, reflecting elsewhere UV_VIS_NIR_IR electromagnetic radiation. The prototype during the daytime sky could reach temperatures well beyond ambient temperature. However, the proof of concept experiment performed in a bright clear June day has evidenced some limitations. A critical analysis of the obtained experimental results has done, in order to individuate design revisions for the device and to identify future metamaterial improvements.

Published
2020

43. Assessment of alternative divertor configurations as an exhaust solution for DEMO

Author

R. Zagórski, V. P. Loschiavo, Fabio Subba, F. Militello, H. Bufferand, Paolo Innocente, S. Merriman, R. Kembleton, H. Reimerdes, L. Aho-Mantilla, T. Lunt, G. Ramogida, Roberto Maurizio, G. Di Gironimo, V. Pericoli-Ridolfini, D. P. Coster, Raffaele Albanese, D. Marzullo, P. Chmielewski, Nicolas Fedorczak, K. Lackner, G. Ciraolo, Anna Castaldo, Stylianos Varoutis, G. Calabrò, R. Ambrosino, S. Ha, H. Zohm, Reimerdes, H., Ambrosino, R., Innocente, P., Castaldo, A., Chmielewski, P., Di Gironimo, G., Merriman, S., Pericoli-Ridolfini, V., Aho-Mantilla, L., Albanese, R., Bufferand, H., Calabro, G., Ciraolo, G., Coster, D., Fedorczak, N., Ha, S., Kembleton, R., Lackner, K., Loschiavo, V. P., Lunt, T., Marzullo, D., Maurizio, R., Militello, F., Ramogida, G., Subba, F., Varoutis, S., Zagorski, R., and Zohm, H.

Subjects
Physics, Nuclear and High Energy Physics, DEMO, divertor, fusion reactor, plasma exhaust, Divertor, Nuclear engineering, Fusion power, Condensed Matter Physics, 01 natural sciences, 7. Clean energy, 010305 fluids & plasmas, 13. Climate action, 0103 physical sciences, 010306 general physics
Abstract

Plasma exhaust has been identified as a major challenge towards the realisation of magnetic confinement fusion. To mitigate the risk that the single null divertor (SND) with a high radiation fraction in the scrape-of-layer (SOL) adopted for ITER will not extrapolate to a DEMO reactor, the EUROfusion consortium is assessing potential benefits and engineering challenges of alternative divertor configurations. Alternative configurations that could be readily adopted in a DEMO design include the X divertor (XD), the Super-X divertor (SXD), the Snowflake divertor (SFD) and the double null divertor (DND). The flux flaring towards the divertor target of the XD is limited by the minimum grazing angle at the target set by gaps and misalignments. The characteristic increase of the target radius in the SXD is a trade-off with the increased TF coil volume, but, ultimately, also limited by forces onto coils. Engineering constraints also limit XD and SXD characteristics to the outer divertor leg with a solution for the inner leg requiring up-down symmetric configurations. Capital cost increases with respect to a SND configuration are largest for SXD and SFD, which require both significantly more poloidal field coil conductors and in the case of the SXD also more toroidal field coil conductors. Boundary models with increasing degrees of complexity have been used to predict the beneficial effect of the alternative configurations on exhaust performance. While all alternative configurations should decrease the power that must be radiated in the outer divertor, only the DND and possibly the SFD also ease the radiation requirements in the inner divertor. These decreases of the radiation requirements are however expected to be small making the ability of alternative divertors to increase divertor radiation without excessive core performance degradation their main advantage. Initial 2D fluid modeling of argon seeding in XD and SFD configurations indicate such advantages over the SND, while results for SXD and DND are still pending. Additional improvements, expected from increased turbulence in the low poloidal field region of the SFD also remain to be verified. A more precise comparison with the SND as well as absolute quantitative predictions for all configurations requires more complete physics models that are currently only being developed.

Published
2020

44. Amplatzer vascular plug IV in the treatment of high flow renal arteriovenous fistula: Case considerations

Author

Anna Castaldo, Giovanni Loiudice, Umberto Bracale, Antonio Corvino, Antonio Catelli, Mario Quarantelli, Pietro Venetucci, Catelli, A., Loiudice, G., Corvino, A., Castaldo, A., Bracale, U. M., Quarantelli, M., and Venetucci, P.

Subjects
lcsh:Medical physics. Medical radiology. Nuclear medicine, medicine.medical_specialty, lcsh:R895-920, medicine.medical_treatment, Coils Endovascular device, Arteriovenous fistula, Embolization procedure, Vascular plug, Renal fistula, 030218 nuclear medicine & medical imaging, Plug, 03 medical and health sciences, 0302 clinical medicine, Renal embolization, Occlusion, Female patient, interventional radiology, medicine, Radiology, Nuclear Medicine and imaging, Embolization, Transcatheter embolization, Plug, interventional radiology, business.industry, medicine.disease, Surgery, business, High flow, 030217 neurology & neurosurgery
Abstract

Renal arteriovenous fistula is classified into idiopathic, acquired and congenital. Endovascular therapy has become the gold standard compared to surgery. We present the embolization procedure of a renal fistula postbiopsy in a 57-year-old female patient through the use of St. Jude Medical Amplatzer vascular Plug IV. Although numerous embolizing agents are available, plug type IV has numerous advantages in terms of procedure times, speed of embolization and precision of the occlusion, but with a relative increase in costs.

Published
2020

45. The DTT device: Poloidal field coil assessment for alternative plasma configurations

Author

Raffaele Albanese, G. Ramogida, V. P. Loschiavo, Roberto Ambrosino, M. de Magistris, S. Minucci, Anna Castaldo, G. Calabrò, F. Crisanti, Ambrosino, R., Albanese, R., Calabrò, G., Castaldo, A., Crisanti, F., Loschiavo, V. P., de Magistris, M., Minucci, S., and Ramogida, G.

Subjects
DTT, Plasma engineering, Nuclear Fusion, Tokamak, Nuclear Fusion, Computer science, Mechanical Engineering, Divertor, Nuclear engineering, Plasma, Plasma engineering, 7. Clean energy, 01 natural sciences, Null (physics), 010305 fluids & plasmas, Power (physics), law.invention, Nuclear Energy and Engineering, Electromagnetic coil, law, Range (aeronautics), 0103 physical sciences, General Materials Science, Current (fluid), 010306 general physics, DTT, Civil and Structural Engineering
Abstract

This paper firstly illustrates the objectives, the figure of merits and the specifications considered in the design of the equilibrium configurations in the Divertor Tokamak Test (DTT) facility. The reference single null scenario is detailed. The range of alternative plasma shapes and current capabilities are then discussed. A number of in-vessel coils can be used to locally modify the magnetic configuration in the divertor region. Finally, a comparison of costs and benefits of the various configurations is given, with particular reference to the power exhaust issues.

Published
2017

46. State of the Art in Artificial Intelligence and Radiomics in Hepatocellular Carcinoma

Author

Giuseppe Pontillo, Anna Castaldo, Davide Raffaele De Lucia, Lorenzo Ugga, Sirio Cocozza, Marco Gatti, Renato Cuocolo, Castaldo, Anna, De Lucia, Davide Raffaele, Pontillo, Giuseppe, Gatti, Marco, Cocozza, Sirio, Ugga, Lorenzo, and Cuocolo, Renato

Subjects
Medicine (General), medicine.medical_specialty, Treatment response, Clinical Biochemistry, Review, Malignancy, Chronic liver disease, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, R5-920, 0302 clinical medicine, Radiomics, Deep learning, Hepatocellular carcinoma, Imaging, Machine learning, Medicine, Medical physics, Modalities, business.industry, radiomic, High mortality, imaging, deep learning, Effective management, hepatocellular carcinoma, medicine.disease, machine learning, radiomics, 030220 oncology & carcinogenesis, business
Abstract

The most common liver malignancy is hepatocellular carcinoma (HCC), which is also associated with high mortality. Often HCC develops in a chronic liver disease setting, and early diagnosis as well as accurate screening of high-risk patients is crucial for appropriate and effective management of these patients. While imaging characteristics of HCC are well-defined in the diagnostic phase, challenging cases still occur, and current prognostic and predictive models are limited in their accuracy. Radiomics and machine learning (ML) offer new tools to address these issues and may lead to scientific breakthroughs with the potential to impact clinical practice and improve patient outcomes. In this review, we will present an overview of these technologies in the setting of HCC imaging across different modalities and a range of applications. These include lesion segmentation, diagnosis, prognostic modeling and prediction of treatment response. Finally, limitations preventing clinical application of radiomics and ML at the present time are discussed, together with necessary future developments to bring the field forward and outside of a purely academic endeavor.

Published
2021

47. Identification of genetic variants associated with Huntington's disease progression

Author

Davina J Hensman Moss, Antonio F Pardiñas, Douglas Langbehn, Kitty Lo, Blair R Leavitt, Raymund Roos, Alexandra Durr, Simon Mead, Peter Holmans, Lesley Jones, Sarah J Tabrizi, A Coleman, R Dar Santos, J Decolongon, A Sturrock, E Bardinet, C Jauff Ret, D Justo, S Lehericy, C Marelli, K Nigaud, R Valabrègue, SJA van den Bogaard, E M Dumas, J van der Grond, EP t'Hart, C Jurgens, M-N Witjes-Ane, N Arran, J Callaghan, C Stopford, C Frost, R Jones, N Hobbs, N Lahiri, R Ordidge, G Owen, T Pepple, J Read, M Say, E Wild, A Patel, N C Fox, C Gibbard, I Malone, H Crawford, D Whitehead, S Keenan, D M Cash, C Berna, N Bechtel, S Bohlen, A Hoff Man, P Kraus, E Axelson, C Wang, T Acharya, S Lee, W Monaco, C Campbell, S Queller, K Whitlock, M Campbell, E Frajman, C Milchman, A O'Regan, I Labuschagne, J Stout, B Landwehrmeyer, D Craufurd, R Scahill, S Hicks, C Kennard, H Johnson, A Tobin, HD Rosas, R Reilmann, B Borowsky, C Pourchot, S C Andrews, Anne-Catherine Bachoud-Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael Bonelli, Jean-Marc Burgunder, Stephen Dunnett, Joaquim Ferreira, Olivia Handley, Arvid Heiberg, Torsten Illmann, G. Bernhard Landwehrmeyer, Jamie Levey, Maria A. Ramos-Arroyo, Jørgen Nielsen, Susana Pro Koivisto, Markku Päivärinta, Raymund A.C. Roos, A Rojo Sebastián, Sarah Tabrizi, Wim Vandenberghe, Christine Verellen-Dumoulin, Tereza Uhrova, Jan Wahlström, Jacek Zaremba, Verena Baake, Katrin Barth, Monica Bascuñana Garde, Sabrina Betz, Reineke Bos, Jenny Callaghan, Adrien Come, Leonor Correia Guedes, Daniel Ecker, Ana Maria Finisterra, Ruth Fullam, Mette Gilling, Lena Gustafsson, Olivia J Handley, Carina Hvalstedt, Christine Held, Kerstin Koppers, Claudia Lamanna, Matilde Laurà, Asunción Martínez Descals, Saül Martinez-Horta, Tiago Mestre, Sara Minster, Daniela Monza, Lisanne Mütze, Martin Oehmen, Michael Orth, Hélène Padieu, Laurent Paterski, Nadia Peppa, Martina Di Renzo, Amandine Rialland, Niini Røren, Pavla Šašinková, Erika Timewell, Jenny Townhill, Patricia Trigo Cubillo, Wildson Vieira da Silva, Marleen R van Walsem, Carina Whalstedt, Marie-Noelle Witjes-Ané, Grzegorz Witkowski, Abigail Wright, Daniel Zielonka, Eugeniusz Zielonka, Paola Zinzi, Raphael M. Bonelli, Sabine Lilek, Karen Hecht, Brigitte Herranhof, Anna Holl, Hans-Peter Kapfhammer, Michael Koppitz, Markus Magnet, Nicole Müller, Daniela Otti, Annamaria Painold, Karin Reisinger, Monika Scheibl, Helmut Schöggl, Jasmin Ullah, Eva-Maria Braunwarth, Florian Brugger, Lisa Buratti, Eva-Maria Hametner, Caroline Hepperger, Christiane Holas, Anna Hotter, Anna Hussl, Christoph Müller, Werner Poewe, Klaus Seppi, Fabienne Sprenger, Gregor Wenning, Andrea Boogaerts, Godelinde Calmeyn, Isabelle Delvaux, Dirk Liessens, Nele Somers, Michel Dupuit, Cécile Minet, Dominique van Paemel, Pascale Ribaï, Dimphna van Reijen, Jirí Klempír, Veronika Majerová, Jan Roth, Irena Stárková, Lena E. Hjermind, Oda Jacobsen, Jørgen E. Nielsen, Ida Unmack Larsen, Tua Vinther-Jensen, Heli Hiivola, Hannele Hyppönen, Kirsti Martikainen, Katri Tuuha, Philippe Allain, Dominique Bonneau, Marie Bost, Bénédicte Gohier, Marie-Anne Guérid, Audrey Olivier, Adriana Prundean, Clarisse Scherer-Gagou, Christophe Verny, Blandine Babiloni, Sabrina Debruxelles, Charlotte Duché, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Rekha Barthélémy, Christelle De Bruycker, Maryline Cabaret Anne-Sophie Carette, Eric Decorte Luc Defebvre, Marie Delliaux, Arnaud Delval, Alain Destee, Kathy Dujardin, Marie-Hélène Lemaire, Sylvie Manouvrier, Mireille Peter, Lucie Plomhouse, Bernard Sablonnière, Clémence Simonin, Stéphanie Thibault-Tanchou, Isabelle Vuillaume, Marcellin Bellonet, Hassan Berrissoul, Stéphanie Blin, Françoise Courtin, Cécile Duru, Véronique Fasquel, Olivier Godefroy, Pierre Krystkowiak, Béatrice Mantaux, Martine Roussel, Sandrine Wannepain, Jean-Philippe Azulay, Marie Delfini, Alexandre Eusebio, Frédérique Fluchere, Laura Mundler, Mathieu Anheim, Celine Julié, Ouhaid Lagha Boukbiza, Nadine Longato, Gabrielle Rudolf, Christine Tranchant, Marie-Agathe Zimmermann, Christoph Michael Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Christian Sass, Johannes Schiefer, Christiane Schlangen, Cornelius J. Werner, Harald Gelderblom, Josef Priller, Harald Prüß, Eike Jakob Spruth, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara Kaminski, Peter Kotz, Christian Prehn, Carsten Saft, Herwig Lange, Robert Maiwald, Matthias Löhle, Antonia Maass, Simone Schmidt, Cecile Bosredon, Alexander Storch, Annett Wolz, Martin Wolz, Philipp Capetian, Johann Lambeck, Birgit Zucker, Kai Boelmans, Christos Ganos, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Jenny Schmalfeld, Lars Stubbe, Simone Zittel, Gabriele Diercks, Dirk Dressler, Heike Gorzolla, Christoph Schrader, Pawel Tacik, Michael Ribbat, Bernhard Longinus, Katrin Bürk, Jens Carsten Möller, Ida Rissling, Mark Mühlau, Alexander Peinemann, Michael Städtler, Adolf Weindl, Juliane Winkelmann, Cornelia Ziegler, Natalie Bechtel, Heike Beckmann, Stefan Bohlen, Eva Hölzner, Ralf Reilmann, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Natalia Weber, Matthias Dose, Gabriele Leythäuser, Ralf Marquard, Tina Raab, Alexandra Wiedemann, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Bernhard Landwehrmeyer, Christina Lang, Franziska Lezius, Solveig Nepper, Anke Niess, Ariane Schneider, Daniela Schwenk, Sigurd Süßmuth, Sonja Trautmann, Patrick Weydt, Claudia Cormio, Vittorio Sciruicchio, Claudia Serpino, Marina de Tommaso, Sabina Capellari, Pietro Cortelli, Roberto Galassi, Giovanni Rizzo, Roberto Poda, Cesa Scaglione, Elisabetta Bertini, Elena Ghelli, Andrea Ginestroni, Francesca Massaro, Claudia Mechi, Marco Paganini, Silvia Piacentini, Silvia Pradella, Anna Maria Romoli, Sandro Sorbi, Giovanni Abbruzzese, Monica Bandettini di Poggio, Giovanna Ferrandes, Paola Mandich, Roberta Marchese, Alberto Albanese, Daniela Di Bella, Anna Castaldo, Stefano Di Donato, Cinzia Gellera, Silvia Genitrini, Caterina Mariotti, Lorenzo Nanetti, Dominga Paridi, Paola Soliveri, Chiara Tomasello, Giuseppe De Michele, Luigi Di Maio, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Elena Salvatore, Pierpaolo Sorrentino, Enrico Amico, Mariagrazia Favellato, Annamaria Griguoli, Irene Mazzante, Martina Petrollini, Ferdinando Squitieri, Barbara D'Alessio, Chiara Esposito, Rita Bentivoglio, Marina Frontali, Arianna Guidubaldi, Tamara Ialongo, Gioia Jacopini, Carla Piano, Silvia Romano, Francesco Soleti, Maria Spadaro, Monique S.E. van Hout, Marloes E. Verhoeven, Jeroen P.P. van Vugt, A. Marit de Weert, J.J.W. Bolwijn, M. Dekker, B. Kremer, K.L. Leenders, J.C.H. van Oostrom, Simon J.A. van den Bogaard, Eve M. Dumas, Ellen P. 't Hart, Berry Kremer, C.C.P. Verstappen, Olaf Aaserud, Jan Frich C, Ragnhild Wehus, Kathrine Bjørgo, Madeleine Fannemel, Per F. Gørvell, Eirin Lorentzen, Lars Retterstøl, Bodil Stokke, Inga Bjørnevoll, Sigrid Botne Sando, Artur Dziadkiewicz, Malgorzata Nowak, Piotr Robowski, Emilia Sitek, Jaroslaw Slawek, Witold Soltan, Michal Szinwelski, Magdalena Blaszcyk, Magdalena Boczarska-Jedynak, Ewelina Ciach-Wysocka, Agnieszka Gorzkowska, Barbara Jasinska-Myga, Gabriela Klodowska-Duda, Gregorz Opala, Daniel Stompel, Krzysztof Banaszkiewicz, Dorota Bocwinska, Kamila Bojakowska-Jaremek, Malgorzata Dec, Malgorzata Krawczyk, Monika Rudzinska, Elzbieta Szczygiel, Andrzej Szczudlik, Anna Wasielewska, Magdalena Wójcik, Anna Bryl, Anna Ciesielska, Aneta Klimberg, Jerzy Marcinkowski, Husam Samara, Justyna Sempolowicz, Anna Gogol, Piotr Janik, Hubert Kwiecinski, Zygmunt Jamrozik, Jakub Antczak, Katarzyna Jachinska, Wioletta Krysa, Maryla Rakowicz, Przemyslaw Richter, Rafal Rola, Danuta Ryglewicz, Halina Sienkiewicz-Jarosz, Iwona Stepniak, Anna Sulek, Elzbieta Zdzienicka, Karolina Zieora-Jakutowicz, Joaquim J Ferreira, Miguel Coelho, Tiago Mendes, Anabela Valadas, Carlos Andrade, Miguel Gago, Carolina Garrett, Maria Rosália Guerra, Carmen Durán Herrera, Patrocinio Moreno Garcia, Miquel Aguilar Barbera, Dolors Badenes Guia, Laura Casas Hernanz, Judit López Catena, Pilar Quiléz Ferrer, Ana Rojo Sebastián, Gemma Tome Carruesco, Jordi Bas, Núria Busquets, Matilde Calopa, Misericordia Floriach Robert, Celia Mareca Viladrich, Jesús Miguel Ruiz Idiago, Antonio Villa Riballo, Esther Cubo, Cecilia Gil Polo, Natividad Mariscal, Perez Jessica Rivadeneyra, Francisco Barrero, Blas Morales, María Fenollar, Rocío García-Ramos García, Paloma Ortega, Clara Villanueva, Javier Alegre, Mónica Bascuñana, Juan Garcia Caldentey, Marta Fatás Ventura, Guillermo García Ribas, Justo García de Yébenes, José Luis López-Sendón Moreno, Fernando Alonso Frech, Pedro J García Ruíz, Asunción Martínez-Descals, Rosa Guerrero, María José Saiz Artiga, Vicenta Sánchez, María Fuensanta Noguera Perea, Lorenza Fortuna, Salvadora Manzanares, Gema Reinante, María Martirio Antequera Torres, Laura Vivancos Moreau, Sonia González González, Luis Menéndez Guisasola, Carlos Salvador, Esther Suaréz San Martín, Inés Legarda Ramirez, Aranzazú Gorospe, Mónica Rodriguez Lopera, Penelope Navas Arques, María José Torres Rodríguez, Barbara Vives Pastor, Itziar Gaston, Maria Dolores Martinez-Jaurrieta, Jose Manuel Garcia Moreno, Carolina Mendez Lucena, Fatima Damas, Hermoso Eva Pacheco Cortegana, José Chacón Peña, Luis Redondo, Fátima Carrillo, María Teresa Cáceres, Pablo Mir, María José Lama Suarez, Laura Vargas-González, Maria E. Bosca, Francisco Castera Brugada, Juan Andres Burguera, Anabel Campos, Garcia Carmen Peiró Vilaplana, Peter Berglund, Radu Constantinescu, Gunnel Fredlund, Ulrika Høsterey-Ugander, Petra Linnsand, Liselotte Neleborn-Lingefjärd, Magnus Wentzel, Ghada Loutfi, Carina Olofsson, Eva-Lena Stattin, Laila Westman, Birgitta Wikström, Yanik Stebler, Alain Kaelin, Irene Romero, Michael Schüpbach, Sabine Weber Zaugg, Maria Hauer, Roman Gonzenbach, Hans H. Jung, Violeta Mihaylova, Jens Petersen, Roisin Jack, Kirsty Matheson, Zosia Miedzybrodzka, Daniela Rae, Sheila A Simpson, Fiona Summers, Alexandra Ure, Vivien Vaughan, Shahbana Akhtar, Jenny Crooks, Adrienne Curtis, Jenny de Souza, John Piedad, Hugh Rickards, Jan Wright, Elizabeth Coulthard, Louise Gethin, Beverley Hayward, Kasia Sieradzan, Matthew Armstrong, Roger A. Barker, Deidre O'Keefe, Anna Di Pietro, Kate Fisher, Anna Goodman, Susan Hill, Ann Kershaw, Sarah Mason, Nicole Paterson, Lucy Raymond, Rachel Swain, Natalie Valle Guzman, Monica Busse, Cynthia Butcher, Catherine Clenaghan, Sarah Hunt, Una Jones, Hanan Khalil, Michael Owen, Kathleen Price, Anne Rosser, Maureen Edwards, Carrie Ho, Teresa Hughes, Marie McGill, Pauline Pearson, Mary Porteous, Paul Smith, Peter Brockie, Jillian Foster, Nicola Johns, Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates, Liz Burrows, Carol Chu, Amy Fletcher, Deena Gallantrae, Stephanie Hamer, Alison Harding, Stefan Klöppel, Alison Kraus, Fiona Laver, Monica Lewis, Mandy Longthorpe, Ivana Markova, Ashok Raman, Nicola Robertson, Mark Silva, Aileen Thomson, Sue Wild, Pam Yardumian, Carole Evans, Deena Gallentrae, Emma Hobson, Stuart Jamieson, Hannah Musgrave, Liz Rowett, Jean Toscano, Colin Bourne, Jackie Clapton, Carole Clayton, Heather Dipple, Dawn Freire-Patino, Janet Grant, Diana Gross, Caroline Hallam, Julia Middleton, Ann Murch, Catherine Thompson, Sundus Alusi, Rhys Davies, Kevin Foy, Emily Gerrans, Louise Pate, Thomasin Andrews, Andrew Dougherty, Charlotte Golding, Fred Kavalier, Hana Laing, Alison Lashwood, Dene Robertson, Deborah Ruddy, Alastair Santhouse, Anna Whaite, Stefania Bruno, Karen Doherty, Salman Haider, Davina Hensman, Nayana Lahiri, Marianne Novak, Aakta Patel, Elisabeth Rosser, Rachel Taylor, Thomas Warner, Edward Wild, Natalie Arran, Judith Bek, David Craufurd, Marianne Hare, Liz Howard, Susan Huson, Liz Johnson, Mary Jones, Helen Murphy, Emma Oughton, Lucy Partington-Jones, Dawn Rogers, Andrea Sollom, Julie Snowden, Cheryl Stopford, Jennifer Thompson, Iris Trender-Gerhard, Nichola Verstraelen, Leann Westmoreland, Richard Armstrong, Kathryn Dixon, Andrea H Nemeth, Gill Siuda, Ruth Valentine, David Harrison, Max Hughes, Andrew Parkinson, Beverley Soltysiak, Oliver Bandmann, Alyson Bradbury, Paul Gill, Helen Fairtlough, Kay Fillingham, Isabella Foustanos, Mbombe Kazoka, Kirsty O'Donovan, Cat Taylor, Katherine Tidswell, Oliver Quarrell, Puay Ngoh Lau, Emmanul Pica, Louis Tan, Univ Angers, Okina, Moss, Davina J. Hensman, Tabrizi, Sarah J, Mead, Simon, Kitty, Lo, Pardiã±as, Antonio F, Holmans, Peter, Jones, Lesley, Langbehn, Dougla, Coleman, A., Santos, R. Dar, Decolongon, J., Sturrock, A., Bardinet, E., Ret, C. Jauff, Justo, D., Lehericy, S., Marelli, C., Nigaud, K., Valabrãgue, R., van den Bogaard, S. J. A., Dumas, E. M., van der Grond, J., T'Hart, E. P., Jurgens, C., Witjes-Ane, M. -. N., Arran, N., Callaghan, J., Stopford, C., Frost, C., Jones, R., Hobbs, N., Lahiri, N., Ordidge, R., Owen, G., Pepple, T., Read, J., Say, M., Wild, E., Patel, A., Fox, N. C., Gibbard, C., Malone, I., Crawford, H., Whitehead, D., Keenan, S., Cash, D. M., Berna, C., Bechtel, N., Bohlen, S., Man, A. Hoff, Kraus, P., Axelson, E., Wang, C., Acharya, T., Lee, S., Monaco, W., Campbell, C., Queller, S., Whitlock, K., Campbell, M., Frajman, E., Milchman, C., O'Regan, A., Labuschagne, I., Stout, J., Landwehrmeyer, B., Craufurd, D., Scahill, R., Hicks, S., Kennard, C., Johnson, H., Tobin, A., Rosas, H. D., Reilmann, R., Borowsky, B., Pourchot, C., Andrews, S. C., Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna Rita, Biunno, Ida, Bonelli, Raphael, Burgunder, Jean-Marc, Dunnett, Stephen, Ferreira, Joaquim, Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Landwehrmeyer, G. Bernhard, Levey, Jamie, Ramos-Arroyo, Maria A., Nielsen, Jã¸rgen, Koivisto, Susana Pro, Pã¤ivã¤rinta, Markku, Roos, Raymund A. C., Sebastiã¡n, A. Rojo, Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlstrã¶m, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Garde, Monica Bascuñana, Betz, Sabrina, Bos, Reineke, Callaghan, Jenny, Come, Adrien, Guedes, Leonor Correia, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Gilling, Mette, Gustafsson, Lena, Handley, Olivia J, Hvalstedt, Carina, Held, Christine, Koppers, Kerstin, Lamanna, Claudia, Laurã , Matilde, Descals, Asunción Martínez, Martinez-Horta, Saã¼l, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mã¼tze, Lisanne, Oehmen, Martin, Orth, Michael, Padieu, Hã©lãne, Paterski, Laurent, Peppa, Nadia, Di Renzo, Martina, Rialland, Amandine, Rã¸ren, Niini, Å aå¡inkovã¡, Pavla, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, da Silva, Wildson Vieira, van Walsem, Marleen R, Whalstedt, Carina, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Bonelli, Raphael M., Lilek, Sabine, Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Magnet, Marku, Mã¼ller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schã¶ggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Mã¼ller, Christoph, Poewe, Werner, Seppi, Klau, Sprenger, Fabienne, Wenning, Gregor, Boogaerts, Andrea, Calmeyn, Godelinde, Delvaux, Isabelle, Liessens, Dirk, Somers, Nele, Dupuit, Michel, Minet, Cã©cile, van Paemel, Dominique, Ribaã¯, Pascale, van Reijen, Dimphna, Klempã­r, Jirã­, Majerovã¡, Veronika, Roth, Jan, Stã¡rkovã¡, Irena, Hjermind, Lena E., Jacobsen, Oda, Nielsen, Jørgen E., Larsen, Ida Unmack, Vinther-Jensen, Tua, Hiivola, Heli, Hyppã¶nen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bã©nã©dicte, Guã©rid, Marie-Anne, Olivier, Audrey, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duchã©, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucriãre, Danielle, Spampinato, Umberto, Barthã©lã©my, Rekha, De Bruycker, Christelle, Carette, Maryline Cabaret Anne-Sophie, Defebvre, Eric Decorte Luc, Delliaux, Marie, Delval, Arnaud, Destee, Alain, Dujardin, Kathy, Lemaire, Marie-HélÃne, Manouvrier, Sylvie, Peter, Mireille, Plomhouse, Lucie, Sablonniãre, Bernard, Simonin, Clã©mence, Thibault-Tanchou, Stã©phanie, Vuillaume, Isabelle, Bellonet, Marcellin, Berrissoul, Hassan, Blin, Stã©phanie, Courtin, Franã§oise, Duru, Cã©cile, Fasquel, Vã©ronique, Godefroy, Olivier, Krystkowiak, Pierre, Mantaux, Bã©atrice, Roussel, Martine, Wannepain, Sandrine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frã©dã©rique, Mundler, Laura, Anheim, Mathieu, Juliã©, Celine, Boukbiza, Ouhaid Lagha, Longato, Nadine, Rudolf, Gabrielle, Tranchant, Christine, Zimmermann, Marie-Agathe, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, Werner, Cornelius J., Gelderblom, Harald, Priller, Josef, Prã¼ã , Harald, Spruth, Eike Jakob, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kotz, Peter, Prehn, Christian, Saft, Carsten, Lange, Herwig, Maiwald, Robert, Lã¶hle, Matthia, Maass, Antonia, Schmidt, Simone, Bosredon, Cecile, Storch, Alexander, Wolz, Annett, Wolz, Martin, Capetian, Philipp, Lambeck, Johann, Zucker, Birgit, Boelmans, Kai, Ganos, Christo, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Mã¼nchau, Alexander, Schmalfeld, Jenny, Stubbe, Lar, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Gorzolla, Heike, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Bã¼rk, Katrin, Mã¶ller, Jens Carsten, Rissling, Ida, Mã¼hlau, Mark, Peinemann, Alexander, Stã¤dtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Hã¶lzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Natalia, Dose, Matthia, Leythã¤user, Gabriele, Marquard, Ralf, Raab, Tina, Wiedemann, Alexandra, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lang, Christina, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Sã¼ã muth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Cormio, Claudia, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Capellari, Sabina, Cortelli, Pietro, Galassi, Roberto, Rizzo, Giovanni, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Massaro, Francesca, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Roberta, Marchese, Albanese, Alberto, Di Bella, Daniela, Castaldo, Anna, Di Donato, Stefano, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Paridi, Dominga, Soliveri, Paola, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Amico, Enrico, Favellato, Mariagrazia, Griguoli, Annamaria, Mazzante, Irene, Petrollini, Martina, Squitieri, Ferdinando, D'Alessio, Barbara, Esposito, Chiara, Bentivoglio, Rita, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Piano, Carla, Romano, Silvia, Soleti, Francesco, Spadaro, Maria, van Hout, Monique S. E., Verhoeven, Marloes E., van Vugt, Jeroen P. P., de Weert, A. Marit, Bolwijn, J. J. W., Dekker, M., Kremer, B., Leenders, K. L., van Oostrom, J. C. H., van den Bogaard, Simon J. A., Dumas, Eve M., â t Hart, Ellen P., Kremer, Berry, Verstappen, C. C. P., Aaserud, Olaf, Jan Frich, C., Wehus, Ragnhild, Bjã¸rgo, Kathrine, Fannemel, Madeleine, Gã¸rvell, Per F., Lorentzen, Eirin, Retterstã¸l, Lar, Stokke, Bodil, Bjã¸rnevoll, Inga, Sando, Sigrid Botne, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Blaszcyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasinska-Myga, Barbara, Klodowska-Duda, Gabriela, Opala, Gregorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Bocwinska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Krawczyk, Malgorzata, Rudzinska, Monika, Szczygiel, Elzbieta, Szczudlik, Andrzej, Wasielewska, Anna, Wã³jcik, Magdalena, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Gogol, Anna, Janik, Piotr, Kwiecinski, Hubert, Jamrozik, Zygmunt, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stepniak, Iwona, Sulek, Anna, Zdzienicka, Elzbieta, Zieora-Jakutowicz, Karolina, Ferreira, Joaquim J, Coelho, Miguel, Mendes, Tiago, Valadas, Anabela, Andrade, Carlo, Gago, Miguel, Garrett, Carolina, Guerra, Maria Rosália, Herrera, Carmen Durán, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badene, Hernanz, Laura Casa, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastiã¡n, Ana Rojo, Carruesco, Gemma Tome, Bas, Jordi, Busquets, Nãºria, Calopa, Matilde, Robert, Misericordia Floriach, Viladrich, Celia Mareca, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Rivadeneyra, Perez Jessica, Barrero, Francisco, Morales, Bla, Fenollar, Marã­a, Garcã­a, Rocío García-Ramo, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuã±ana, Mã³nica, Caldentey, Juan Garcia, Ventura, Marta Fatá, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Frech, Fernando Alonso, Ruã­z, Pedro J. García, Martínez-Descals, Asunciã³n, Guerrero, Rosa, Artiga, María José Saiz, Sã¡nchez, Vicenta, Perea, María Fuensanta Noguera, Fortuna, Lorenza, Manzanares, Salvadora, Reinante, Gema, Torres, María Martirio Antequera, Moreau, Laura Vivanco, González González, Sonia, Guisasola, Luis Menéndez, Salvador, Carlo, Martã­n, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazãº, Lopera, Mónica Rodriguez, Arques, Penelope Nava, Rodrã­guez, María José Torre, Pastor, Barbara Vive, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolore, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peã±a, José Chacón, Redondo, Lui, Carrillo, Fã¡tima, Teresa Cáceres, Marã­a, Mir, Pablo, Suarez, María José Lama, Vargas-González, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andre, Campos, Anabel, Vilaplana, Garcia Carmen Peiró, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wentzel, Magnu, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikstrã¶m, Birgitta, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schã¼pbach, Michael, Weber Zaugg, Sabine, Hauer, Maria, Gonzenbach, Roman, Jung, Hans H., Mihaylova, Violeta, Petersen, Jen, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Armstrong, Matthew, Barker, Roger A., O'Keefe, Deidre, Di Pietro, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Kershaw, Ann, Mason, Sarah, Paterson, Nicole, Raymond, Lucy, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Clenaghan, Catherine, Hunt, Sarah, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Edwards, Maureen, Carrie, Ho, Hughes, Teresa, Mcgill, Marie, Pearson, Pauline, Porteous, Mary, Smith, Paul, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Burrows, Liz, Chu, Carol, Fletcher, Amy, Gallantrae, Deena, Hamer, Stephanie, Harding, Alison, Klã¶ppel, Stefan, Kraus, Alison, Laver, Fiona, Lewis, Monica, Longthorpe, Mandy, Markova, Ivana, Raman, Ashok, Robertson, Nicola, Silva, Mark, Thomson, Aileen, Wild, Sue, Yardumian, Pam, Evans, Carole, Gallentrae, Deena, Hobson, Emma, Jamieson, Stuart, Musgrave, Hannah, Rowett, Liz, Toscano, Jean, Bourne, Colin, Clapton, Jackie, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Grant, Janet, Gross, Diana, Hallam, Caroline, Middleton, Julia, Murch, Ann, Thompson, Catherine, Alusi, Sundu, Davies, Rhy, Foy, Kevin, Gerrans, Emily, Pate, Louise, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Doherty, Karen, Haider, Salman, Hensman, Davina, Lahiri, Nayana, Novak, Marianne, Patel, Aakta, Rosser, Elisabeth, Taylor, Rachel, Warner, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nichola, Westmoreland, Leann, Armstrong, Richard, Dixon, Kathryn, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, David, Harrison, Hughes, Max, Parkinson, Andrew, Soltysiak, Beverley, Bandmann, Oliver, Bradbury, Alyson, Gill, Paul, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Kazoka, Mbombe, O'Donovan, Kirsty, Taylor, Cat, Tidswell, Katherine, Quarrell, Oliver, Lau, Puay Ngoh, Pica, Emmanul, Tan, Louis, Amsterdam Neuroscience - Neurodegeneration, Neurology, Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Moss, Davina J Hensman, Lo, Kitty, Pardiñas, Antonio F, Santos, R Dar, Ret, C Jauff, Valabrègue, R., Witjes-Ane, M. -N., Man, A Hoff, Bachoud-Lévi, Anne-Catherine, Nielsen, Jørgen, Päivärinta, Markku, Sebastián, A Rojo, Wahlström, Jan, Garde, Monica Bascuñana, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saül, Mütze, Lisanne, Padieu, Hélène, Røren, Niini, Šašinková, Pavla, Witjes-Ané, Marie-Noelle, Müller, Nicole, Schöggl, Helmut, Müller, Christoph, Minet, Cécile, Ribaï, Pascale, Klempír, Jirí, Majerová, Veronika, Stárková, Irena, Nielsen, Jørgen E., Hyppönen, Hannele, Gohier, Bénédicte, Guérid, Marie-Anne, Duché, Charlotte, Lafoucrière, Danielle, Barthélémy, Rekha, Lemaire, Marie-Hélène, Sablonnière, Bernard, Simonin, Clémence, Thibault-Tanchou, Stéphanie, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Mantaux, Béatrice, Fluchere, Frédérique, Julié, Celine, Prüß, Harald, Löhle, Matthia, Münchau, Alexander, Bürk, Katrin, Möller, Jens Carsten, Mühlau, Mark, Städtler, Michael, Hölzner, Eva, Leythäuser, Gabriele, Süßmuth, Sigurd, Marchese, Roberta, DI MAIO, Luigi, ’t Hart, Ellen P., Bjørgo, Kathrine, Gørvell, Per F., Retterstøl, Lar, Bjørnevoll, Inga, Wójcik, Magdalena, Guerra, Maria Rosália, Herrera, Carmen Durán, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastián, Ana Rojo, Busquets, Núria, Idiago, Jesús Miguel Ruiz, Fenollar, María, García, Rocío García-Ramo, Bascuñana, Mónica, Ventura, Marta Fatá, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Ruíz, Pedro J García, Martínez-Descals, Asunción, Artiga, María José Saiz, Sánchez, Vicenta, Perea, María Fuensanta Noguera, Torres, María Martirio Antequera, González González, Sonia, Guisasola, Luis Menéndez, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Rodríguez, María José Torre, Peña, José Chacón, Carrillo, Fátima, Teresa Cáceres, María, Suarez, María José Lama, Vargas-González, Laura, Vilaplana, Garcia Carmen Peiró, Høsterey-Ugander, Ulrika, Neleborn-Lingefjärd, Liselotte, Wikström, Birgitta, Schüpbach, Michael, Ho, Carrie, Klöppel, Stefan, Harrison, David, Cardiff University, University of Iowa [Iowa City], University of British Columbia (UBC), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UCL, Institute of Neurology [London], National Oceanography Centre [Southampton] (NOC), University of Southampton, Center for NeuroImaging Research-Human MRI Neuroimaging core facility for clinical research [ICM Paris] (CENIR), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Amiens-Picardie, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516 (CHIMERE), TRACK-HD investigators, Pardinas, Antonio F, Langbehn, Douglas, Lee, S Hong, TRACK-HD Investigators, and REGISTRY Investigators

Subjects
0301 basic medicine, Oncology, Registrie, Genome-wide association study, Longitudinal Studie, Disease, Bioinformatics, Severity of Illness Index, Principal Component Analysi, Longitudinal Studies, Registries, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Huntington disease, DNA-Binding Proteins, Settore MED/26 - NEUROLOGIA, Adult, Genome-Wide Association Study, Humans, Huntington Disease, MutS Homolog 3 Protein, Principal Component Analysis, Disease Progression, Neurology (clinical), huntingtin gene, age of onest, Huntington’s disease, Human, medicine.medical_specialty, cag repeat, instability, DNA-Binding Protein, Clinical Neurology, Principal component analysis, Single-nucleotide polymorphism, Biology, 03 medical and health sciences, Huntington's disease, Internal medicine, medicine, SNP, genome-wide association study, medicine.disease, R1, meta-analysis, Minor allele frequency, 030104 developmental biology, Age of onset, Trinucleotide repeat expansion, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation. Funding The European Commission FP7 NeurOmics project; CHDI Foundation; the Medical Research Council UK; the Brain Research Trust; and the Guarantors of Brain.

Published
2017

48. Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia

Author

Rafał Rola, Antonella Antenora, Tanja Schmitz-Hübsch, Massimo Pandolfo, Bart P.C. van de Warrenburg, Anna Castaldo, Alexis Brice, Wolfgang Nachbauer, Sophie Tezenas du Montcel, José Berciano, Arron Cook, Paola Giunti, Caterina Mariotti, Jörg B. Schulz, Lorenzo Nanetti, Heike Jacobi, Kang Jun-Suk, Jon Infante, Holger Hengel, Alexandra Durr, Laszlo Baliko, Thomas Klockgether, Ludger Schöls, Michael H Parkinson, Alessandro Filla, Béla Melegh, Maria Rakowicz, Alhassane Diallo, Perrine Charles, Sylvia Boesch, Anna Sulek, Dagmar Timmann, Peter Bauer, Cecila Marelli, Robyn Labrum, and Marta Panzeri

Subjects
0301 basic medicine, Male, Spinocerebellar Ataxia Type 1, Pediatrics, longitudinal data, physiopathology [Cognitive Dysfunction], Time Factors, physiopathology [Spinocerebellar Ataxias], Medizin, mortality [Machado-Joseph Disease], etiology [Cognitive Dysfunction], Cohort Studies, physiopathology [Machado-Joseph Disease], 0302 clinical medicine, physiopathology [Dystonia], spinocerebellar ataxia, EUROSCA study, Spinocerebellar ataxia type 6, Longitudinal Studies, Prospective Studies, Prospective cohort study, etiology [Dystonia], Machado-Joseph Disease, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Survival Rate, Dystonia, Neurology, complications [Machado-Joseph Disease], Spinocerebellar ataxia, Disease Progression, Female, medicine.symptom, etiology [Deglutition Disorders], Change over time, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, physiopathology [Deglutition Disorders], 03 medical and health sciences, Neurologie, medicine, Humans, Spinocerebellar Ataxias, Cognitive Dysfunction, ddc:610, EPOCE, Aged, complications [Spinocerebellar Ataxias], business.industry, Disease progression, mortality [Spinocerebellar Ataxias], dynamic predictions, medicine.disease, Confidence interval, nervous system diseases, 030104 developmental biology, nervous system, Neurology (clinical), business, Deglutition Disorders, 030217 neurology & neurosurgery
Abstract

Background: Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. Objective: To quantify the impact of disease progression measured by the Scale for the Assessment and Rating of Ataxia on survival, and to identify different profiles of disease progression and survival. Methods: Four hundred sixty-two spinocerebellar ataxia patients from the EUROSCA prospective cohort study, suffering from spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, and spinocerebellar ataxia type 6, and who had at least two measurements of Scale for the Assessment and Rating of Ataxia score, were analyzed. Outcomes were change over time in Scale for the Assessment and Rating of Ataxia score and time to death. Joint model was used to analyze disease progression and survival. Results: Disease progression was the strongest predictor for death in all genotypes: An increase of 1 standard deviation in total Scale for the Assessment and Rating of Ataxia score increased the risk of death by 1.28 times (95% confidence interval: 1.18–1.38) for patients with spinocerebellar ataxia type 1; 1.19 times (1.12–1.26) for spinocerebellar ataxia type 2; 1.30 times (1.19–1.42) for spinocerebellar ataxia type 3; and 1.26 times (1.11–1.43) for spinocerebellar ataxia type 6. Three subgroups of disease progression and survival were identified for patients with spinocerebellar ataxia type 1: “severe” (n = 13; 12%), “intermediate” (n = 31; 29%), and “moderate” (n = 62; 58%). Patients in the severe group were more severely affected at baseline with higher Scale for the Assessment and Rating of Ataxia scores and frequency of nonataxia signs compared to those in the other groups. Conclusion: Rapid ataxia progression is associated with poor survival of the most common spinocerebellar ataxia. Theses current results have implications for the design of future interventional studies of spinocerebellar ataxia. © 2019 International Parkinson and Movement Disorder Society., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2019

49. Structural and catalytic insights into HoLaMa, a derivative of Klenow DNA polymerase lacking the proofreading domain

Author

Alejandro Hochkoeppler, Anna Castaldo, Alessandra Stefan, Michael Kovermann, Sara Caramia, Kovermann M., Stefan A., Castaldo A., Caramia S., and Hochkoeppler A.

Subjects
Exonuclease, Protein Folding, Stereochemistry, DNA polymerase, Science, tryptophan fluorescence, HoLaMa, Substrate Specificity, 03 medical and health sciences, Non-competitive inhibition, Protein Domains, Catalytic Domain, Enzyme Stability, Escherichia coli, DNA binding, Nuclear Magnetic Resonance, Biomolecular, Polymerase, 030304 developmental biology, Klenow fragment, chemistry.chemical_classification, 0303 health sciences, Multidisciplinary, biology, Chemistry, Escherichia coli Proteins, 030302 biochemistry & molecular biology, Mutagenesis, stability, DNA Polymerase I, NMR, Peptide Fragments, Recombinant Proteins, Kinetics, Enzyme, Amino Acid Substitution, ddc:540, biology.protein, Mutagenesis, Site-Directed, Proofreading, Thermodynamics, Medicine
Abstract

We report here on the stability and catalytic properties of the HoLaMa DNA polymerase, a Klenow sub-fragment lacking the 3’-5’ exonuclease domain. HoLaMa was overexpressed in Escherichia coli, and the enzyme was purified by means of standard chromatographic techniques. High-resolution NMR experiments revealed that HoLaMa is properly folded at pH 8.0 and 20°C. In addition, urea induced a cooperative folding to unfolding transition of HoLaMa, possessing an overall thermodynamic stability and a transition midpoint featuring ΔG and CM equal to (15.7 ± 1.9) kJ/mol and (3.5 ± 0.6) M, respectively. When the catalytic performances of HoLaMa were compared to those featured by the Klenow enzyme, we did observe a 10-fold lower catalytic efficiency by the HoLaMa enzyme. Surprisingly, HoLaMa and Klenow DNA polymerases possess markedly different sensitivities in competitive inhibition assays performed to test the effect of single dNTPs. published

Published
2019

50. Zinc Silicate Thin Film Composites Obtained by a Sputtering Based Approach: Structural, Dielectric and Photovoltaic Properties

Author

Giuseppe Vitiello, Anna Castaldo, and Emilia Gambale

Subjects
Materials science, Silicon, business.industry, chemistry.chemical_element, Dielectric, Zinc, Sputter deposition, Amorphous solid, chemistry, Photovoltaics, Composite material, Thin film, business, High-κ dielectric
Abstract

This study deals with the production of zinc silicate thin films employing a solid-state reaction at temperatures ranging from 300 °C to 560 °C, to develop new inorganic, n-type materials with seemingly incompatible properties as low work function, high mobility, and high visible transmittance. Depending on a careful reaction control, zinc silicates can preserve reagents (silicon and/or ZnO) as nanoaggregate guests, exhibiting tunable light absorption and emission properties that make them useful for different applications, e.g., LED phosphors, photovoltaic windows, mesoporous photocatalytic materials for solar fuel production, etc. The main aim of this work is to obtain a zinc silicate single-phase and then determine its dielectric properties through ellipsometry. Simultaneously, as an example of application, a p-n photovoltaic junction is fabricated that exhibits a remarkable collection of photo-generated charge carriers at very high bandgaps (>2 eV). The obtained results are promising in tailoring the zinc silicate guest-host composition (appropriate Si nanostructures sizing and quantity, improved charge carrier transport properties due to the simultaneous presence of bulk zinc oxide islands) in the function of the desired application, and taking into account that proposed selected low-temperature fabrication process is strategic for safeguarding the underlying junctions of tandem devices.

Published
2021

Catalog

Books, media, physical & digital resources
See catalog results