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Article ; Online: A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report.

Muda, Alice / Malerba, Laura / Giordano, Lucio / Fazzi, Elisa / Accorsi, Patrizia

American journal of medical genetics. Part A

2023 Volume 191, Issue 7, Page(s) 1953–1958

Abstract: PUS7 gene pathogenic variants cause a deficiency in an RNA-independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and ... ...

Abstract	PUS7 gene pathogenic variants cause a deficiency in an RNA-independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and intellectual disability. Since 2018, PUS7 deficiency has been described in 15 patients with different pathogenic variants but similar clinical phenotypes. We describe the case of a male infant with a homozygous truncating pathogenic variant in the PUS7 gene (c.329_332delCTGA; p.Thr110Argfs*4) who, in addition to the previously mentioned features, displays self-injurious behavior, sleep disturbances and motor stereotypies.
MeSH term(s)	Humans ; Male ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Microcephaly/diagnosis ; Microcephaly/genetics ; Microcephaly/pathology ; Phenotype ; Self-Injurious Behavior/complications ; Self-Injurious Behavior/genetics ; Sleep
Chemical Substances	PUS7 protein, human (EC 5.4.-)
Language	English
Publishing date	2023-04-17
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63212
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Article ; Online: Long-Term Visual and Neurodevelopmental Outcomes in Two Children with Congenital Nystagmus Secondary to Methadone Exposure In utero.

Galli, Jessica / Loi, Erika / Franzoni, Alessandra / Accorsi, Patrizia / Micheletti, Serena / Pansera, Laura / Fazzi, Elisa

Neuropediatrics

2023 Volume 54, Issue 6, Page(s) 412–416

Abstract: Methadone is used as a substitute for illicit opioids during pregnancy. However, the real effect of this molecule on visual and neurodevelopmental outcomes of the children exposed is not fully understood, since studies considered subjects born to ... ...

Abstract	Methadone is used as a substitute for illicit opioids during pregnancy. However, the real effect of this molecule on visual and neurodevelopmental outcomes of the children exposed is not fully understood, since studies considered subjects born to polydrug-dependent mothers and followed for few months/years. We report the long-term outcomes of two infants with congenital nystagmus solely exposed to methadone in utero. Neurological and neurovisual evaluations were performed every year from the first year of life to 11 years of age. One child was diagnosed with developmental coordination disorder. Both cases presented with ophthalmologic (refractive errors), oculomotor (nystagmus and fixation, smooth pursuit, and saccades dysfunctions), and perceptive problems (reduced visual acuity and contrast sensitivity). While nystagmus and other oculomotor dysfunctions remained stable over time, visual acuity and contrast sensitivity improved; refractive errors worsened and required corrective lenses. Both children showed normal neurodevelopmental and cognitive profile. This report highlights the long-term visual and developmental outcomes of two children exclusively exposed to methadone underlining the possibility of a visual dysfunction and motor coordination disorder. These observations prompt the need to investigate prenatal drug exposure as a cause of congenital nystagmus.
MeSH term(s)	Child ; Female ; Humans ; Infant ; Pregnancy ; Methadone/adverse effects ; Nystagmus, Congenital/chemically induced ; Prenatal Exposure Delayed Effects/chemically induced ; Refractive Errors ; Vision Disorders/chemically induced ; Vision Disorders/diagnosis
Chemical Substances	Methadone (UC6VBE7V1Z)
Language	English
Publishing date	2023-08-14
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/s-0043-1771388
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Zs.A 728: Show issues

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Article ; Online: Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021.

Filippi, Corinna / Milito, Giuseppe / Accorsi, Patrizia / Muda, Alice / Fazzi, Elisa Maria / Martelli, Paola / Riva, Antonella / Giordano, Lucio

Clinical neurology and neurosurgery

2023 Volume 234, Page(s) 107983

Abstract: Objective: SCN2A gene pathogenic variants are associated with a wide phenotypic spectrum, encompassing epilepsy, developmental delay, and autism spectrum disorder. Researches conducted in Denmark have revealed a disease frequency of approximately 1/78, ... ...

Abstract	Objective: SCN2A gene pathogenic variants are associated with a wide phenotypic spectrum, encompassing epilepsy, developmental delay, and autism spectrum disorder. Researches conducted in Denmark have revealed a disease frequency of approximately 1/78,608 (0.0012%) live births in this population. We estimated the frequency of SCN2A-related disorder in the birth cohort of Brescia and its province between 2002 and 2021. Methods: Frequency was calculated by ratio between patients with SCN2A pathogenic variant and the total number of live births at the Regional Epilepsy Center of Brescia, between 2002 and 2021. The number of births in Brescia and province was obtained from the Italian National Institute of Statistics (ISTAT). Results: A frequency of 11/23,2678 births (0.0047%) was found. In comparison with Danish data, we noticed a higher frequency of the pathogenic variant in our population, even considering the same time frame (0.0035% of subjects born between 2006 and 2014). Conclusion: The frequency of SCN2A pathogenic variant among live births in Brescia and its Province between 2006 and 2014 was about three times that of Danish population; this difference was about four times if we consider the period from 2002 to 2021. More studies are needed to further delineate the frequency of SCN2A pathogenic variant in Italian population.
MeSH term(s)	Humans ; Autism Spectrum Disorder/genetics ; Phenotype ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; Epilepsy/epidemiology ; Epilepsy/genetics
Chemical Substances	NAV1.2 Voltage-Gated Sodium Channel ; SCN2A protein, human
Language	English
Publishing date	2023-09-20
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	193107-6
ISSN	1872-6968 ; 0303-8467
ISSN (online)	1872-6968
ISSN	0303-8467
DOI	10.1016/j.clineuro.2023.107983
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Article ; Online: Cellular Strategies for Separating GvHD from GvL in Haploidentical Transplantation.

Di Ianni, Mauro / Liberatore, Carmine / Santoro, Nicole / Ranalli, Paola / Guardalupi, Francesco / Corradi, Giulia / Villanova, Ida / Di Francesco, Barbara / Lattanzio, Stefano / Passeri, Cecilia / Lanuti, Paola / Accorsi, Patrizia

Cells

2024 Volume 13, Issue 2

Abstract: GvHD still remains, despite the continuous improvement of transplantation platforms, a fearful complication of transplantation from allogeneic donors. Being able to separate GvHD from GvL represents the greatest challenge in the allogeneic transplant ... ...

Abstract	GvHD still remains, despite the continuous improvement of transplantation platforms, a fearful complication of transplantation from allogeneic donors. Being able to separate GvHD from GvL represents the greatest challenge in the allogeneic transplant setting. This may be possible through continuous improvement of cell therapy techniques. In this review, current cell therapies are taken into consideration, which are based on the use of TCR alpha/beta depletion, CD45RA depletion, T regulatory cell enrichment, NK-cell-based immunotherapies, and suicide gene therapies in order to prevent GvHD and maximally amplify the GvL effect in the setting of haploidentical transplantation.
MeSH term(s)	Humans ; Transplantation, Haploidentical ; Cell- and Tissue-Based Therapy ; Fear ; Immunotherapy ; Killer Cells, Natural
Language	English
Publishing date	2024-01-11
Publishing country	Switzerland
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells13020134
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Article: Long-Term Visual and Neurodevelopmental Outcomes in Two Children with Congenital Nystagmus Secondary to Methadone Exposure In utero

Galli, Jessica / Loi, Erika / Franzoni, Alessandra / Accorsi, Patrizia / Micheletti, Serena / Pansera, Laura / Fazzi, Elisa

Neuropediatrics

2023 Volume 54, Issue 06, Page(s) 412–416

Abstract	Methadone is used as a substitute for illicit opioids during pregnancy. However, the real effect of this molecule on visual and neurodevelopmental outcomes of the children exposed is not fully understood, since studies considered subjects born to polydrug-dependent mothers and followed for few months/years. We report the long-term outcomes of two infants with congenital nystagmus solely exposed to methadone in utero. Neurological and neurovisual evaluations were performed every year from the first year of life to 11 years of age. One child was diagnosed with developmental coordination disorder. Both cases presented with ophthalmologic (refractive errors), oculomotor (nystagmus and fixation, smooth pursuit, and saccades dysfunctions), and perceptive problems (reduced visual acuity and contrast sensitivity). While nystagmus and other oculomotor dysfunctions remained stable over time, visual acuity and contrast sensitivity improved; refractive errors worsened and required corrective lenses. Both children showed normal neurodevelopmental and cognitive profile. This report highlights the long-term visual and developmental outcomes of two children exclusively exposed to methadone underlining the possibility of a visual dysfunction and motor coordination disorder. These observations prompt the need to investigate prenatal drug exposure as a cause of congenital nystagmus.
Keywords	methadone ; congenital nystagmus ; pregnancy ; neurovisual profile ; children
Language	English
Publishing date	2023-08-14
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/s-0043-1771388
Database	Thieme publisher's database

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Article ; Online: Position paper on the use of COVID-19 convalescent plasma: an update.

Prati, Daniele / Fiorin, Francesco / Berti, Pierluigi / De Silvestro, Giustina / Accorsi, Patrizia / Ostuni, Angelo

Blood transfusion = Trasfusione del sangue

2021 Volume 19, Issue 4, Page(s) 277–280

MeSH term(s)	COVID-19/blood ; COVID-19/therapy ; Consensus ; Humans ; Immunization, Passive/standards ; Inpatients ; Italy ; Meta-Analysis as Topic ; Randomized Controlled Trials as Topic ; Treatment Outcome
Language	English
Publishing date	2021-05-21
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2135732-8
ISSN	2385-2070 ; 0041-1787 ; 1723-2007
ISSN (online)	2385-2070
ISSN	0041-1787 ; 1723-2007
DOI	10.2450/2021.0150-21
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Zs.A 798: Show issues

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Article ; Online: Repetitive and stereotyped behaviors in neurodevelopmental disorders: an observational analysis of four diagnostic groups.

Brunetti, Sara / Rossi, Andrea / Galli, Jessica / Gitti, Filippo / Nardocci, Nardo / Giordano, Lucio / Accorsi, Patrizia / Calza, Stefano / Fazzi, Elisa

Minerva pediatrics

2022

Abstract: Background: Repetitive and Stereotyped Behaviors (ST) are one of the key features of autism spectrum disorder (ASD) and they frequently occur in children with developmental delay/intellectual disability or sensory deprivation, but they are also ... ...

Abstract	Background: Repetitive and Stereotyped Behaviors (ST) are one of the key features of autism spectrum disorder (ASD) and they frequently occur in children with developmental delay/intellectual disability or sensory deprivation, but they are also described in children otherwise typical. This study aims to describe and compare ST in children with different neurodevelopmental disorders and in children having stereotypies but no other medical diagnosis (primary stereotypies). Methods: The study sample comprised children with autism spectrum disorder (ASD) developmental delay (DD), severe visual impairment (VI) and primary stereotypies (PS), aged between 2 and 12 years old. The characteristics of the ST (age of onset, frequency, duration, triggers, phenomenology) were collected from their clinical history. The children's caregivers completed the Repetitive Behavior Scalerevised (RBS-R) and the Child Behavior Checklist (CBCL) to assess the ST and to screen for behavioral problems, respectively. Data concerning family history and comorbidity were also collected. Results: 87 children (ASD [n=23]; DD [n=21]; VI [n=20]; PS [n=23]) were assessed. Mean age of ST onset was before 24 months in the whole sample. Symptoms usually occurred more than once a day in all groups, but Self-Injurious Behavior (SIB) and ST were reported at higher scores on the RBS-R in Secondary group. Stereotypies lasted less than 5 minutes in all but VI sample, in which lasted longer. Stereotypies of locomotion were mostly reported in ASD, self-injurious behaviors in VI, upper limb stereotypies in PS and DD. Parents reported several repetitive behaviors on the RBS-R, while attention deficit and withdrawn behavior appeared to be the main findings of the sample in the CBCL. Finally, a high number of comorbidities and family history for neurodevelopmental disorders was found in all groups. Conclusions: The study showed that some specific patterns of stereotypies could be identified in most groups of disorders. At the same time the behavioral profile of children with stereotypies shows a significant overlap among different groups. These preliminary results suggest that stereotypies are strongly linked to neurodevelopmental disorders, but their association needs to be clarified with further studies.
Language	English
Publishing date	2022-05-05
Publishing country	Italy
Document type	Journal Article
ZDB-ID	3062664-X
ISSN	2724-5780
ISSN (online)	2724-5780
DOI	10.23736/S2724-5276.22.06835-5
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Article ; Online: Position paper on the preparation of immune plasma to be used in the treatment of patients with COVID-19.

Accorsi, Patrizia / Berti, Pierluigi / de Angelis, Vincenzo / De Silvestro, Giustina / Mascaretti, Luca / Ostuni, Angelo

Blood transfusion = Trasfusione del sangue

2020 Volume 18, Issue 3, Page(s) 163–166

Abstract: Passive immunotherapy with plasma derived from convalescent patients recovering from SARS-CoV-2 infection can be a promising approach in the treatment of COVID-19 patients. It is important that blood establishments are ready to satisfy requests for ... ...

Abstract	Passive immunotherapy with plasma derived from convalescent patients recovering from SARS-CoV-2 infection can be a promising approach in the treatment of COVID-19 patients. It is important that blood establishments are ready to satisfy requests for immune plasma by defining the requirements applicable to plasma donors and the standards for preparation, qualification, storage, distribution, and control of product use. This Position paper aims to give recommendations on the biological characteristics of a plasma preparation from convalescent donors and to support the evaluation of this therapeutic approach in more rigorous investigations.
MeSH term(s)	Antibodies, Viral/adverse effects ; Antibodies, Viral/therapeutic use ; Betacoronavirus/immunology ; Blood Banks/organization & administration ; Blood Banks/standards ; Blood Donors/legislation & jurisprudence ; Coronavirus Infections/therapy ; Europe ; Humans ; Immunization Schedule ; Immunization, Passive/adverse effects ; Immunization, Passive/methods ; Immunization, Passive/standards ; Informed Consent ; Italy ; Pandemics ; Plasma/immunology ; Pneumonia, Viral/therapy
Chemical Substances	Antibodies, Viral
Keywords	covid19
Language	English
Publishing date	2020-06-11
Publishing country	Italy
Document type	Journal Article ; Practice Guideline
ZDB-ID	2135732-8
ISSN	2385-2070 ; 0041-1787 ; 1723-2007
ISSN (online)	2385-2070
ISSN	0041-1787 ; 1723-2007
DOI	10.2450/2020.0124-20
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Article ; Online: Impact of Covid-19 epidemic on the activities of a blood centre, transfusion support for infected patients and clinical outcomes.

Quaglietta, Anna / Nicolucci, Antonio / Posata, Raffaella / Frattari, Antonella / Parruti, Giustino / Accorsi, Patrizia

Transfusion medicine (Oxford, England)

2020 Volume 31, Issue 3, Page(s) 160–166

Abstract: Objectives: We evaluated how the Severe Acute Respiratory disease from Coronavirus 2 (SARS-CoV-2) epidemic impacted transfusion services, transfusion support required by Covid-19 patients and their clinical outcome.: Background: In Italy, the first ... ...

Abstract	Objectives: We evaluated how the Severe Acute Respiratory disease from Coronavirus 2 (SARS-CoV-2) epidemic impacted transfusion services, transfusion support required by Covid-19 patients and their clinical outcome. Background: In Italy, the first confirmed case of SARS-CoV-2 infection was registered on 21 February 2020. As of 20 April, about 250 000 cases were registered, 1143 of which were in the province of Pescara. Methods: We compared transfusion services provided by the blood centre of Pescara between 1 March and 20 April 2019 and between 1 March and 20 April 2020. We assessed the number and type of blood components donated, those transfused in the various hospital departments and those transfused to Covid-19 patients. Results: Compared to 2019, we documented a decrease of 32% in the number of donations. The number of transfusions increased by 139% in the infectious diseases department (IDD), dedicated to Covid-19 patients, and by 76% in the intensive care unit (ICU), whereas it markedly decreased in the other departments. Of 299 patients with Covid-19, 60 were transfused (20.1%). Transfused patients in the ICU were significantly younger than those in IDD and had a lower number of lymphocytes, lower post-transfusion increment of haemoglobin levels and higher D-dimer and C reactive protein values. Mortality rate was 60.7% among transfused patients in the ICU and 39.0% among those in the IDD (p = 0.02). Conclusion: The Covid-19 epidemic had a profound impact on transfusion activities. The important blood demand for Covid-19 patients was satisfied because of the reduction in activities in other hospital wards. Covid-19-positive transfused patients showed a very poor prognosis.
MeSH term(s)	Aged ; Aged, 80 and over ; Blood Banks/statistics & numerical data ; Blood Component Transfusion/statistics & numerical data ; Blood Donors/statistics & numerical data ; Blood Transfusion/statistics & numerical data ; COVID-19/epidemiology ; COVID-19/therapy ; Female ; Hemoglobins/analysis ; Humans ; Intensive Care Units/statistics & numerical data ; Italy/epidemiology ; Male ; Middle Aged ; Pandemics ; SARS-CoV-2 ; Treatment Outcome
Chemical Substances	Hemoglobins
Language	English
Publishing date	2020-12-02
Publishing country	England
Document type	Journal Article
ZDB-ID	1067989-3
ISSN	1365-3148 ; 0958-7578
ISSN (online)	1365-3148
ISSN	0958-7578
DOI	10.1111/tme.12742
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Article: Position paper on the preparation of immune plasma to be used in the treatment of patients with COVID-19.

Accorsi, Patrizia / Berti, Pierluigi / de Angelis, Vincenzo / De Silvestro, Giustina / Mascaretti, Luca / Ostuni, Angelo

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis

2020 Volume 59, Issue 4, Page(s) 102817

Abstract: Passive immunotherapy with plasma derived from patients convalescent from SARS-CoV-2 infection can be a promising approach in the treatment of COVID-19 patients. It is important that Blood Establishments are prepared to satisfy requests for immune plasma ...

Abstract	Passive immunotherapy with plasma derived from patients convalescent from SARS-CoV-2 infection can be a promising approach in the treatment of COVID-19 patients. It is important that Blood Establishments are prepared to satisfy requests for immune plasma by defining the requirements applicable to plasma donors and the standards for preparation, qualification, storage, distribution and control of use of the product. This position paper is aimed to give recommendations on biological characteristics of a plasma preparation from convalescent donors and to support the evaluation of this therapeutic approach in more rigorous investigations.
MeSH term(s)	Antibodies, Viral/blood ; Betacoronavirus/immunology ; Blood Component Removal/methods ; Blood Donors ; COVID-19 ; Coronavirus Infections/blood ; Coronavirus Infections/immunology ; Coronavirus Infections/therapy ; Donor Selection/standards ; Humans ; Immune Sera/adverse effects ; Immune Sera/isolation & purification ; Immunization, Passive/adverse effects ; Immunization, Passive/methods ; Pandemics ; Pneumonia, Viral/blood ; Pneumonia, Viral/immunology ; Pneumonia, Viral/therapy ; Product Labeling ; Risk ; SARS-CoV-2
Chemical Substances	Antibodies, Viral ; Immune Sera
Keywords	covid19
Language	English
Publishing date	2020-05-21
Publishing country	England
Document type	Journal Article ; Practice Guideline ; Review
ZDB-ID	2046795-3
ISSN	1878-1683 ; 1473-0502
ISSN (online)	1878-1683
ISSN	1473-0502
DOI	10.1016/j.transci.2020.102817
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