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Article ; Online: Emotional Behavioural and Autonomic Dysregulation (EBAD) in Rett Syndrome - EDA and HRV monitoring using wearable sensor technology.

Gualniera, Ludovica / Singh, Jatinder / Fiori, Federico / Santosh, Paramala

2021 Volume 138, Page(s) 186–193

Abstract: Background: Rett syndrome (RTT) is a severe genetic neurodevelopmental disorder. Emotional, Behavioural and Autonomic Dysregulation (EBAD), is frequent in RTT and is associated with multiple impairments. There are major challenges in the clinical ... ...

Abstract	Background: Rett syndrome (RTT) is a severe genetic neurodevelopmental disorder. Emotional, Behavioural and Autonomic Dysregulation (EBAD), is frequent in RTT and is associated with multiple impairments. There are major challenges in the clinical assessment of emotions, behaviours, and autonomic function in RTT patients that limit the management of symptoms. Methods: Web-based technology (HealthTracker™) to measure the phenotype, and non-invasive, wearable sensor technology to evaluate autonomic function through Electrodermal Activity (EDA) and Heart Rate Variability (HRV) in 10 RTT patients was used, and treatment response of EBAD symptoms was monitored after different pharmacological treatments. Results: and discussion: 4 patients received buspirone, 2 sertraline, 1 gabapentin and 3 were not started on medications. Buspirone normalized the EDA in 3 patients with associated improvement in EBAD, whilst another patient only improved marginally. Both patients treated with sertraline (including one with normal EDA) significantly improved symptomatically. The patients on unchanged regimens showed no change in symptoms and autonomic function. Within 24 h of our assessment, one patient required intensive inpatient care due to septicaemia - this patient had been on gabapentin and showed a sharp and sustained EDA increase without obvious worsening of emotional and behavioural symptoms. Unlike the EDA, the analyses of HRV metrics did not reveal patterns that were associated with clinical outcomes. Our findings suggest a reasonable association of EDA normalization and symptomatic improvement in RTT subjects with EBAD treated with buspirone and point out its potential application as a measure of dysautonomia in RTT. Very high and sustained EDA levels may be a biomarker for concurrent serious physical illness in RTT.
MeSH term(s)	Emotions ; Heart Rate ; Humans ; Primary Dysautonomias ; Rett Syndrome/complications ; Rett Syndrome/genetics ; Technology ; Wearable Electronic Devices
Language	English
Publishing date	2021-04-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3148-3
ISSN	1879-1379 ; 0022-3956
ISSN (online)	1879-1379
ISSN	0022-3956
DOI	10.1016/j.jpsychires.2021.03.052
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Article ; Online: Tactile distance illusions reflect a coherent stretch of tactile space.

Fiori, Federico / Longo, Matthew R

Proceedings of the National Academy of Sciences of the United States of America

2018 Volume 115, Issue 6, Page(s) 1238–1243

Abstract: Illusions of the perception of distance between two touches on the skin have been described since the classic work of Weber in the 19th century. The perceptual mechanisms underlying such spatial distortions, however, remain poorly understood. One ... ...

Abstract	Illusions of the perception of distance between two touches on the skin have been described since the classic work of Weber in the 19th century. The perceptual mechanisms underlying such spatial distortions, however, remain poorly understood. One potential interpretation is that the representational space of touch is related to the true structure of the skin by a geometrically simple stretch. If distortions of tactile distance perception reflect a simple stretch of tactile space, perceived distance should vary predictably as a function of the orientation of the stimulus on the skin, showing a sinusoidal pattern. Here, we tested this prediction by obtained judgments of perceived tactile distance for pairs of touches aligned with eight orientations on the skin. Across four experiments, the results were highly consistent with this prediction, showing no apparent deviation from a model of simple stretch of tactile space. Similar results were apparent on both the dorsum and palm of the hand, as well as the forehead. These results show that spatial distortions of touch are well characterized by a geometrically simple stretch of tactile space.
MeSH term(s)	Forehead ; Hand ; Humans ; Illusions/physiology ; Models, Biological ; Nontherapeutic Human Experimentation ; Skin ; Space Perception ; Touch/physiology ; Touch Perception/physiology
Language	English
Publishing date	2018--06
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
DOI	10.1073/pnas.1715123115
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Article: Differentiating Females with Rett Syndrome and Those with Multi-Comorbid Autism Spectrum Disorder Using Physiological Biomarkers: A Novel Approach.

Iakovidou, Nantia / Lanzarini, Evamaria / Singh, Jatinder / Fiori, Federico / Santosh, Paramala

Journal of clinical medicine

2020 Volume 9, Issue 9

Abstract: This study explored the use of wearable sensor technology to investigate autonomic function in children with autism spectrum disorder (ASD) and Rett syndrome (RTT). We aimed to identify autonomic biomarkers that can correctly differentiate females with ... ...

Abstract	This study explored the use of wearable sensor technology to investigate autonomic function in children with autism spectrum disorder (ASD) and Rett syndrome (RTT). We aimed to identify autonomic biomarkers that can correctly differentiate females with ASD and Rett Syndrome using an innovative methodology that applies machine learning approaches. Our findings suggest that we can predict (95%) the status of ASD/Rett. We conclude that physiological biomarkers may be able to assist in the differentiation between patients with RTT and ASD and could allow the development of timely therapeutic strategies.
Language	English
Publishing date	2020-09-02
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm9092842
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Article ; Online: Surgical treatment of diastasis recti: the importance of an overall view of the problem.

Fiori, Federico / Ferrara, Francesco / Gobatti, Davide / Gentile, Daniele / Stella, Marco

Hernia : the journal of hernias and abdominal wall surgery

2020 Volume 25, Issue 4, Page(s) 871–882

Abstract: Purpose: Diastasis recti (DR) is characterized by an alteration of the linea alba with increased inter-recti distance (IRD). It is more frequent in females, and when symptomatic or associated with midline hernia it needs to be surgically repaired. This ... ...

Abstract	Purpose: Diastasis recti (DR) is characterized by an alteration of the linea alba with increased inter-recti distance (IRD). It is more frequent in females, and when symptomatic or associated with midline hernia it needs to be surgically repaired. This retrospective study aims to demonstrate how an overall approach to DR leads to good results in terms of functional and morphological outcomes and quality of life (QoL). Methods: From January 2018 to December 2019, 94 patients were operated for DR > 50 mm, with or without midline hernias. Three different surgical approaches were used: complete laparoabdominoplasty, laparominiabdominoplasty and minimally invasive (endoscopic) technique. QoL was assessed with the EuraHS-QoL tool. Results: All patients were female except two males. We performed 26 endoscopic treatments (27.7%), 39 laparoabdominoplasties (41.5%) and 29 laparominiabdominoplasties (umbilical float procedure) (30.9%). The total median operative time was 160 min. No intraoperative complications were registered. In three (4.2%) cases, major surgical complications occurred, all after open operations. In 13 open surgery cases, vacuum-assisted closure (VAC) therapy was used to repair the cutaneous ischemic defect. No recurrence was registered to date. Minimally invasive surgery showed fewer complications and lower hospital stay than the open approach. The QoL was significantly improved. Conclusion: Our experience shows the importance of an overall view of the functional and cosmetic impairment created by DR. The surgeon should obtain an optimal repair of the function, by open or minimally invasive surgery, also considering the morphological aspects, which are very important for the patients in terms of QoL.
MeSH term(s)	Diastasis, Muscle/surgery ; Female ; Herniorrhaphy/adverse effects ; Humans ; Male ; Quality of Life ; Rectus Abdominis/surgery ; Retrospective Studies
Language	English
Publishing date	2020-06-20
Publishing country	France
Document type	Journal Article
ZDB-ID	1388125-5
ISSN	1248-9204 ; 1265-4906
ISSN (online)	1248-9204
ISSN	1265-4906
DOI	10.1007/s10029-020-02252-0
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Article: Highly Photostable Carbon Dots from Citric Acid for Bioimaging.

Fiori, Federico / Moukham, Hind / Olia, Federico / Piras, Davide / Ledda, Sergio / Salis, Andrea / Stagi, Luigi / Malfatti, Luca / Innocenzi, Plinio

Materials (Basel, Switzerland)

2022 Volume 15, Issue 7

Abstract: Bioimaging supported by nanoparticles requires low cost, highly emissive and photostable systems with low cytotoxicity. Carbon dots (C-dots) offer a possible solution, even if controlling their properties is not always straightforward, not to mention ... ...

Abstract	Bioimaging supported by nanoparticles requires low cost, highly emissive and photostable systems with low cytotoxicity. Carbon dots (C-dots) offer a possible solution, even if controlling their properties is not always straightforward, not to mention their potentially simple synthesis and the fact that they do not exhibit long-term photostability in general. In the present work, we synthesized two C-dots starting from citric acid and tris (hydroxymethyl)-aminomethane (tris) or arginine methyl ester dihydrochloride. Cellular uptake and bioimaging were tested in vitro using murine neuroblastoma and ovine fibroblast cells. The C-dots are highly biocompatible, and after 24 h of incubation with the cells, 100% viability was still observed. Furthermore, the C-dots synthesized using tris have an average dimension of 2 nm, a quantum yield of 37%, high photostability and a zeta potential (ζ) around -12 mV. These properties favor cellular uptake without damaging cells and allow for very effective bioimaging.
Language	English
Publishing date	2022-03-24
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2487261-1
ISSN	1996-1944
ISSN	1996-1944
DOI	10.3390/ma15072395
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Article: An Observational Study of Heart Rate Variability Using Wearable Sensors Provides a Target for Therapeutic Monitoring of Autonomic Dysregulation in Patients with Rett Syndrome.

Singh, Jatinder / Ameenpur, Shashidhar / Ahmed, Ruksana / Basheer, Salah / Chishti, Samiya / Lawrence, Rosie / Fiori, Federico / Santosh, Paramala

Biomedicines

2022 Volume 10, Issue 7

Abstract: Rett Syndrome (RTT) is a complex neurodevelopmental disorder that has multi-system involvement with co-occurring epilepsy, breathing problems and autonomic dysregulation. Autonomic dysregulation can increase the risk of cardiorespiratory vulnerability in ...

Abstract	Rett Syndrome (RTT) is a complex neurodevelopmental disorder that has multi-system involvement with co-occurring epilepsy, breathing problems and autonomic dysregulation. Autonomic dysregulation can increase the risk of cardiorespiratory vulnerability in this patient group. Assessment of heart rate variability (HRV) provides an overview of autonomic health in RTT and offers insight into how the sympathetic and parasympathetic components of the nervous system function. However, to our knowledge, no study has evaluated HRV in Rett patients to assess how the dynamics of autonomic function vary with age and changes during the day and/or night. Using non-invasive wearable sensors, we measured HRV in 45 patients with RTT and examined the time and frequency domain sympathetic and parasympathetic indices. Among the HRV indices assessed, heart rate decreases with age and is lower in the night across all ages studied. The sympathetic index (SDNN) and the parasympathetic indices (RMSSD and pNN50) are not seen to change with age. Nevertheless, these indices were all higher during the day when compared to the night. Our findings appear to show that Rett patients are less adaptable to autonomic changes during the night. In the clinical setting, this might be more relevant for patients with severe psychopathology.
Language	English
Publishing date	2022-07-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines10071684
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Article ; Online: Totally Endoscopic Sublay Anterior Repair for Ventral and Incisional Hernias.

Fiori, Federico / Ferrara, Francesco / Gentile, Daniele / Gobatti, Davide / Stella, Marco

Journal of laparoendoscopic & advanced surgical techniques. Part A

2019

Abstract: Background: Endoscopic technique is a valid and safe approach for the treatment of abdominal wall defects. To combine the advantages of complete endoscopic extraperitoneal surgery with those of sublay mesh repair we propose Totally Endoscopic Sublay ... ...

Abstract	Background: Endoscopic technique is a valid and safe approach for the treatment of abdominal wall defects. To combine the advantages of complete endoscopic extraperitoneal surgery with those of sublay mesh repair we propose Totally Endoscopic Sublay Anterior Repair (TESAR) a safe and feasible approach for the treatment of ventral and incisional midline hernias. Methods: From May to November 2018, 12 patients were referred to our unit for clinical and radiological diagnosis of midline ventral or incisional hernia and selected for TESAR. Exclusion criteria were: complicated ventral or incisional hernia (i.e., incarcerated hernia), maximum defect width >7 cm, and contraindications to general anesthesia. Results: All procedures were completed with endoscopic approach, with no conversion to laparoscopy or open surgery. No intraoperative complications were registered. Total mean operative time was 148 ± 18.5 minutes. No postoperative major complications were registered. Only one subcutaneous seroma was registered (8.3%) and treated conservatively. The mean postoperative stay was 2.6 ± 0.6 days. Conclusions: TESAR is a safe and feasible technique for the extraperitoneal sublay repair of ventral hernias with a totally endoscopic approach. It provides accurate hernia repair with good outcomes in terms of resolution of symptoms and postoperative complications.
Language	English
Publishing date	2019-02-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	1381909-4
ISSN	1557-9034 ; 1092-6429
ISSN (online)	1557-9034
ISSN	1092-6429
DOI	10.1089/lap.2018.0807
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Article ; Online: Development of the Tailored Rett Intervention and Assessment Longitudinal (TRIAL) database and the Rett Evaluation of Symptoms and Treatments (REST) Questionnaire.

Santosh, Paramala / Lievesley, Kate / Fiori, Federico / Singh, Jatinder

BMJ open

2017 Volume 7, Issue 6, Page(s) e015342

Abstract: Introduction: Rett syndrome (RTT) is a pervasive neurodevelopmental disorder that presents with deficits in brain functioning leading to language and learning regression, characteristic hand stereotypies and developmental delay. Different mutations in ... ...

Abstract	Introduction: Rett syndrome (RTT) is a pervasive neurodevelopmental disorder that presents with deficits in brain functioning leading to language and learning regression, characteristic hand stereotypies and developmental delay. Different mutations in the gene implicated in RTT- Methods and analysis: The US Food and Drug Administration Guidance for Patient-Reported Outcome Measures will be used as a template to inform the methodology of the study. It will follow an iterative framework that will include item/concept identification, item/concept elicitation in parent/carer-mediated focus groups, expert clinician feedback, web-based presentation of questionnaires, initial scale development, instrument refinement and instrument validation. Ethics and dissemination: The study has received favourable opinion from the National Health Service (NHS) Research Ethics Committee (REC): NHS Research Ethics Committee (REC)-London, Bromley Research Ethics Committee (reference: 15/LO/1772).
MeSH term(s)	Adolescent ; Adult ; Child ; Databases, Factual ; Female ; Humans ; Internet ; Male ; Research Design ; Rett Syndrome/genetics ; Rett Syndrome/physiopathology ; Rett Syndrome/psychology ; Surveys and Questionnaires ; Symptom Assessment ; Validation Studies as Topic ; Wearable Electronic Devices ; Young Adult
Language	English
Publishing date	2017-06-21
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2747269-3
ISSN	2044-6055 ; 2044-6055 ; 2053-3624
ISSN (online)	2044-6055
ISSN	2044-6055 ; 2053-3624
DOI	10.1136/bmjopen-2016-015342
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Article: In Vitro Antiviral Activity of Hyperbranched Poly-L-Lysine Modified by L-Arginine against Different SARS-CoV-2 Variants.

Fiori, Federico / Cossu, Franca Lucia / Salis, Federica / Carboni, Davide / Stagi, Luigi / De Forni, Davide / Poddesu, Barbara / Malfatti, Luca / Khalel, Abbas / Salis, Andrea / Casula, Maria Francesca / Anedda, Roberto / Lori, Franco / Innocenzi, Plinio

Nanomaterials (Basel, Switzerland)

2023 Volume 13, Issue 24

Abstract: The emergence of SARS-CoV-2 variants requires close monitoring to prevent the reoccurrence of a new pandemic in the near future. The Omicron variant, in particular, is one of the fastest-spreading viruses, showing a high ability to infect people and ... ...

Abstract	The emergence of SARS-CoV-2 variants requires close monitoring to prevent the reoccurrence of a new pandemic in the near future. The Omicron variant, in particular, is one of the fastest-spreading viruses, showing a high ability to infect people and evade neutralization by antibodies elicited upon infection or vaccination. Therefore, the search for broad-spectrum antivirals that can inhibit the infectious capacity of SARS-CoV-2 is still the focus of intense research. In the present work, hyperbranched poly-L-lysine nanopolymers, which have shown an excellent ability to block the original strain of SARS-CoV-2 infection, were modified with L-arginine. A thermal reaction at 240 °C catalyzed by boric acid yielded Lys-Arg hyperbranched nanopolymers. The ability of these nanopolymers to inhibit viral replication were assessed for the original, Delta, and Omicron strains of SARS-CoV-2 together with their cytotoxicity. A reliable indication of the safety profile and effectiveness of the various polymeric compositions in inhibiting or suppressing viral infection was obtained by the evaluation of the therapeutic index in an in vitro prevention model. The hyperbranched L-arginine-modified nanopolymers exhibited a twelve-fold greater therapeutic index when tested with the original strain. The nanopolymers could also effectively limit the replication of the Omicron strain in a cell culture.
Language	English
Publishing date	2023-12-06
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662255-5
ISSN	2079-4991
ISSN	2079-4991
DOI	10.3390/nano13243090
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Article ; Online: A structured medication review tool to promote psychotropic medication optimisation for adults with intellectual disability: feasibility study.

Sheehan, Rory / Strydom, André / Marston, Louise / Morant, Nicola / Fiori, Federico / Santosh, Paramala / Hassiotis, Angela

BMJ open

2019 Volume 9, Issue 12, Page(s) e033827

Abstract: Objectives: To investigate the feasibility of delivering structured psychotropic medication review in community services for adults with intellectual disability (ID).: Design: Single-arm feasibility study conducted over a 6-month period.: Setting: ...

Abstract	Objectives: To investigate the feasibility of delivering structured psychotropic medication review in community services for adults with intellectual disability (ID). Design: Single-arm feasibility study conducted over a 6-month period. Setting: Specialist community ID teams in England. Participants: Psychiatrists working with adults with ID and adults with ID who had been prescribed psychotropic medication. Intervention: A structured web-based psychotropic medication review tool (the HealthTracker-based structured medication review) comprising measures of therapeutic benefit and adverse side-effects was made available for use by psychiatrists in routine clinic appointments. A summary measure of medication effectiveness was graphically presented to aid discussion and decision-making. Main outcome measures: Feasibility metrics including number of people with ID referred, eligible and recruited, and uptake of the medication review tool in naturalistic clinical settings. Psychiatrist and patient feedback was collected to assess acceptability of the intervention and suggestions for development. Results: Fifteen psychiatrists from five clinical teams took part. In total 94 potentially eligible people with ID were referred, of whom 79 (84%) were recruited and together underwent 97 medication reviews over the 6-month study period. Feedback from participants with ID was favourable. Psychiatrists indicated that the HealthTracker-based structured medication review was broadly acceptable and suggested adaptations to improve integration with existing information technology systems and to enhance patient involvement in the review. Conclusions: Structured psychotropic medication review can be used in community services for adults with ID as part of a programme of medication optimisation. It would be feasible to test clinical and patient outcomes of the HealthTracker-based medication review in a randomised clinical trial.
MeSH term(s)	Adolescent ; Adult ; Aged ; Decision Making, Shared ; England ; Feasibility Studies ; Female ; Humans ; Intellectual Disability ; Male ; Medication Adherence ; Medication Therapy Management ; Middle Aged ; Patient Acceptance of Health Care ; Patient Participation ; Psychotropic Drugs/adverse effects ; Psychotropic Drugs/therapeutic use ; Young Adult
Chemical Substances	Psychotropic Drugs
Language	English
Publishing date	2019-12-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2599832-8
ISSN	2044-6055 ; 2044-6055
ISSN (online)	2044-6055
ISSN	2044-6055
DOI	10.1136/bmjopen-2019-033827
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