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Article: Lessons from immunotherapies in multiple sclerosis.

Rispoli, Marianna G / D'Apolito, Maria / Pozzilli, Valeria / Tomassini, Valentina

2023 Volume 193, Page(s) 293–311

Abstract: The improved understanding of multiple sclerosis (MS) neurobiology alongside the development of novel markers of disease will allow precision medicine to be applied to MS patients, bringing the promise of improved care. Combinations of clinical and ... ...

Abstract	The improved understanding of multiple sclerosis (MS) neurobiology alongside the development of novel markers of disease will allow precision medicine to be applied to MS patients, bringing the promise of improved care. Combinations of clinical and paraclinical data are currently used for diagnosis and prognosis. The addition of advanced magnetic resonance imaging and biofluid markers has been strongly encouraged, since classifying patients according to the underlying biology will improve monitoring and treatment strategies. For example, silent progression seems to contribute significantly more than relapses to overall disability accumulation, but currently approved treatments for MS act mainly on neuroinflammation and offer only a partial protection against neurodegeneration. Further research, involving traditional and adaptive trial designs, should strive to halt, repair or protect against central nervous system damage. To personalize new treatments, their selectivity, tolerability, ease of administration, and safety must be considered, while to personalize treatment approaches, patient preferences, risk-aversion, and lifestyle must be factored in, and patient feedback used to indicate real-world treatment efficacy. The use of biosensors and machine-learning approaches to integrate biological, anatomical, and physiological parameters will take personalized medicine a step closer toward the patient's virtual twin, in which treatments can be tried before they are applied.
MeSH term(s)	Humans ; Multiple Sclerosis/diagnosis ; Prognosis ; Magnetic Resonance Imaging ; Treatment Outcome ; Immunotherapy
Language	English
Publishing date	2023-02-20
Publishing country	Netherlands
Document type	Review ; Journal Article
ISSN	0072-9752
ISSN	0072-9752
DOI	10.1016/B978-0-323-85555-6.00013-8
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Skin-to-Skin Contact (Kangaroo Care) During the COVID-19 Pandemic.

Ludington-Hoe, Susan M / Lotas, Marilyn / D'Apolito, Karen

Neonatal network : NN

2021 Volume 40, Issue 3, Page(s) 161–174

Abstract: Early recommendations to separate mothers from their newborns during the coronavirus disease 2019 (COVID-19) pandemic have created a detrimental separation practice. This article presents a review of the latest information regarding the (1) 3 modes of ... ...

Abstract	Early recommendations to separate mothers from their newborns during the coronavirus disease 2019 (COVID-19) pandemic have created a detrimental separation practice. This article presents a review of the latest information regarding the (1) 3 modes of transmission of the virus to the neonate; (2) incidence, clinical signs, and severity of COVID-19 in the neonate; (3) factors to be considered to balance risk and benefits of separation and skin-to-skin contact (SSC) when conducting shared decision making; and (4) compendium of published SSC guidelines; and concludes with recommendations for safe practice of SSC to prevent and/or restrict COVID-19 infection in neonates.
MeSH term(s)	Adult ; COVID-19/psychology ; Female ; Humans ; Infant, Newborn ; Kangaroo-Mother Care Method/psychology ; Kangaroo-Mother Care Method/standards ; Male ; Mother-Child Relations/psychology ; Mothers/psychology ; Neonatal Nursing/standards ; Pandemics ; Practice Guidelines as Topic ; Pregnancy ; SARS-CoV-2
Language	English
Publishing date	2021-05-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	639300-7
ISSN	1539-2880 ; 0730-0832
ISSN (online)	1539-2880
ISSN	0730-0832
DOI	10.1891/11-T-748
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Article: Longitudinal Structure-Function Evaluation in a Patient with

Cusumano, Andrea / Falsini, Benedetto / D'Apolito, Fabian / D'Ambrosio, Michele / Sebastiani, Jacopo / Cascella, Raffaella / Barati, Shila / Giardina, Emiliano

Diagnostics (Basel, Switzerland)

2023 Volume 13, Issue 3

Abstract: Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (: Methods: A 14-year-old girl was evaluated between 2019 and 2022. An ophthalmological assessment, including color vision, perimetry, ... ...

Abstract	Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 ( Methods: A 14-year-old girl was evaluated between 2019 and 2022. An ophthalmological assessment, including color vision, perimetry, electroretinography, and multimodal imaging of the retina, was performed periodically every six months. Next-generation sequencing disclosed two likely pathogenic/pathogenic variants in the Results: At first examination, the patient showed a cone-rod pattern retinal dystrophy. Over follow-up, there was a decline of visual acuity and perimetric sensitivity (by ≥0.3 and 0.6 log units, respectively). Visual loss was associated with a progressive increase in inner retinal thickness (by 30%). Outer retina showed no detectable changes over the follow-up. Conclusions: The results indicate that, in this patient with a
Language	English
Publishing date	2023-01-20
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics13030392
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Article: Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series.

Cusumano, Andrea / Falsini, Benedetto / D'Ambrosio, Michele / D'Apolito, Fabian / Sebastiani, Jacopo / Levialdi Ghiron, Jung Hee / Giardina, Emiliano / Cascella, Raffaella

Case reports in ophthalmology

2023 Volume 14, Issue 1, Page(s) 626–639

Abstract: Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 : Case ... ...

Abstract	Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 Case presentation: Three DHRD patients (case 1, male and cases 2 and 3, two sister females, age range 41-46) with Conclusion: This is the first report showing that in a long-term follow-up, 2RT treatment in DHRD may improve or stabilize some retinal function parameters without significant structural changes.
Language	English
Publishing date	2023-11-23
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2577666-6
ISSN	1663-2699
ISSN	1663-2699
DOI	10.1159/000534579
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Article ; Online: MRI and Trouillas' grading system of pituitary tumors: the usefulness of T2 signal intensity volumetric values.

Calandrelli, Rosalinda / Pilato, Fabio / D'Apolito, Gabriella / Schiavetto, Stefano / Gessi, Marco / D'Alessandris, Quintino Giorgio / Lauretti, Liverana / Gaudino, Simona

Neuroradiology

2023 Volume 65, Issue 11, Page(s) 1567–1578

Abstract: Purpose: To classify pituitary macroadenomas according to the Trouillas' grading system; to compare this grading system with T2 values of volumetric signal intensity to determine T2 values able to predict the final grade.: Methods: A total of 106 ... ...

Abstract	Purpose: To classify pituitary macroadenomas according to the Trouillas' grading system; to compare this grading system with T2 values of volumetric signal intensity to determine T2 values able to predict the final grade. Methods: A total of 106 patients with macroadenomas were grouped according to the grading system score combining proliferation and invasiveness criteria of Trouillas' classification. Normalized volumetric signal intensity values were extracted from coronal T2-weighted images (nT2mean, nT2Max, nT2min) and were compared with the final grading score system. Results: Thirty-three patients were in grade 1a (non-invasive, non-proliferative tumors), 17 patients in grade 1b (non-invasive, proliferative tumors), 36 patients in grade 2a (invasive, non-proliferative tumors), and 20 patients in grade 2b (invasive, proliferative tumors). No patient was in grade 3 (metastatic tumors). nT2Max and nT2min were the best quantitative values to discriminate invasive from non-invasive grades; in invasive grades, nT2Max intensity values were higher, and nT2min intensity values were lower than in non-invasive grades. Receiver operating characteristic analysis of nT2 values showed that nT2min values had a better diagnostic performance than nT2Max values because they allowed differentiating with a moderate accuracy invasive tumors (2a or 2b grades) from both non-invasive proliferative tumors (1b) and non-invasive-non proliferative tumors (1a) (2a vs 1b: AUC Conclusion: Volumetric nT2Max and nT2min values of MRI might be practical and non-invasive markers for assessing tumor invasiveness although nT2 min signal intensity values have more effects in discriminating tumor's invasive behavior.
MeSH term(s)	Humans ; Pituitary Neoplasms/diagnostic imaging ; Pituitary Neoplasms/pathology ; Magnetic Resonance Imaging/methods ; ROC Curve ; Neoplasm Grading ; Retrospective Studies
Language	English
Publishing date	2023-05-26
Publishing country	Germany
Document type	Journal Article
ZDB-ID	123305-1
ISSN	1432-1920 ; 0028-3940
ISSN (online)	1432-1920
ISSN	0028-3940
DOI	10.1007/s00234-023-03162-5
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Article ; Online: Progressive multifocal leukoencephalopathy or severe multiple sclerosis relapse following COVID-19 vaccine: a diagnostic challenge.

D'Apolito, Maria / Rispoli, Marianna G / Ajdinaj, Paola / Digiovanni, Anna / Tomassini, Valentina / Gentile, Luigia / De Luca, Giovanna

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

2023 Volume 44, Issue 4, Page(s) 1141–1146

MeSH term(s)	Humans ; Chronic Disease ; COVID-19/prevention & control ; COVID-19 Testing ; COVID-19 Vaccines/adverse effects ; Leukoencephalopathy, Progressive Multifocal/diagnostic imaging ; Leukoencephalopathy, Progressive Multifocal/etiology ; Multiple Sclerosis ; Natalizumab
Chemical Substances	COVID-19 Vaccines ; Natalizumab
Language	English
Publishing date	2023-01-12
Publishing country	Italy
Document type	Letter
ZDB-ID	2016546-8
ISSN	1590-3478 ; 1590-1874
ISSN (online)	1590-3478
ISSN	1590-1874
DOI	10.1007/s10072-023-06609-y
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Article ; Online: Pediatric craniopharyngiomas: magnetic resonance imaging assessment for hypothalamus-pituitary axis dysfunction and outcome prediction.

Calandrelli, Rosalinda / Pilato, Fabio / Massimi, Luca / D'Apolito, Gabriella / Grimaldi, Alessandro / Chiloiro, Sabrina / Bianchi, Antonio / Gessi, Marco / Gaudino, Simona

Pediatric radiology

2023 Volume 54, Issue 1, Page(s) 157–169

Abstract: Background: In adamantinomatous craniopharyngiomas, tumor topographical categories, cystic component volume, and magnetic resonance signal intensity may impact prognosis.: Objective: To identify magnetic resonance imaging (MRI) variables associated ... ...

Abstract	Background: In adamantinomatous craniopharyngiomas, tumor topographical categories, cystic component volume, and magnetic resonance signal intensity may impact prognosis. Objective: To identify magnetic resonance imaging (MRI) variables associated with pituitary-hypothalamic axis dysfunction and predictive of outcome in children with cystic adamantinomatous craniopharyngiomas. Materials and methods: We evaluated 40 preoperative MRIs of adamantinomatous craniopharyngiomas to classify tumor topography, volume, and signal intensity of the cystic components and peritumoral edema. Volumes and normalized signal intensity minimum values were extracted from coronal T2-weighted images (nT2 Results: Adamantinomatous craniopharyngiomas were categorized into five topographic classes (12 patients, sellar-suprasellar; seven patients, pseudo-intraventricular; six patients, strict intraventricular; 14 patients, secondary intraventricular; one patient, not strict intraventricular). All cases exhibited a predominant (30 patients, 80%) or total (10 patients, 20%) cystic tumor component and displayed low nT2 Conclusion: Severe hypothalamic-pituitary axis dysfunction is associated with tumors along the pituitary stalk and peritumoral edema. Tumor invasion of the third ventricle, tight adherence to the hypothalamus, larger volumes, and lower nT2
MeSH term(s)	Child ; Humans ; Craniopharyngioma/diagnostic imaging ; Craniopharyngioma/surgery ; Craniopharyngioma/pathology ; Pituitary Neoplasms/diagnostic imaging ; Pituitary Neoplasms/pathology ; Neoplasm Recurrence, Local/pathology ; Prognosis ; Magnetic Resonance Imaging/methods ; Hypothalamus/diagnostic imaging ; Hypothalamus/pathology ; Edema
Language	English
Publishing date	2023-11-29
Publishing country	Germany
Document type	Journal Article
ZDB-ID	124459-0
ISSN	1432-1998 ; 0301-0449
ISSN (online)	1432-1998
ISSN	0301-0449
DOI	10.1007/s00247-023-05814-3
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Article ; Online: De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis.

d'Apolito, Maria / Ranaldi, Alessandra / Santoro, Francesco / Cannito, Sara / Gravina, Matteo / Santacroce, Rosa / Ragnatela, Ilaria / Margaglione, Alessandra / D'Andrea, Giovanna / Casavecchia, Grazia / Brunetti, Natale Daniele / Margaglione, Maurizio

International journal of molecular sciences

2024 Volume 25, Issue 5

Abstract: Dystrophin ( ...

Abstract	Dystrophin (
MeSH term(s)	Humans ; Female ; Adult ; Child ; Dystrophin/genetics ; Cardiomyopathy, Dilated/genetics ; Muscular Dystrophy, Duchenne/genetics ; Mothers
Chemical Substances	Dystrophin
Language	English
Publishing date	2024-02-28
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25052787
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Article: Trouillas's Grading and Post-Surgical Tumor Residue Assessment in Pituitary Adenomas: The Importance of the Multidisciplinary Approach.

Calandrelli, Rosalinda / Mattogno, Pier Paolo / Chiloiro, Sabrina / Gessi, Marco / D'Apolito, Gabriella / Tartaglione, Tommaso / Giampietro, Antonella / Bianchi, Antonio / Doglietto, Francesco / Lauretti, Liverana / Gaudino, Simona

Diagnostics (Basel, Switzerland)

2024 Volume 14, Issue 3

Abstract: Background: We aim to assess the role of a multidisciplinary approach in pituitary adenomas (PitNETs) classification, evaluate criteria concordance, and compare intraoperative assessments with post-operative MRIs for tumor remnants.: Methods: ... ...

Abstract	Background: We aim to assess the role of a multidisciplinary approach in pituitary adenomas (PitNETs) classification, evaluate criteria concordance, and compare intraoperative assessments with post-operative MRIs for tumor remnants. Methods: Clinical, radiological, histological, and intra- and post-operative data of the treated PitNETs were extracted from prospectively created records. PitNETs were graded according to Trouillas, and the evaluation of the tumor remnants was recorded. Results: Of 362 PitNETs, 306 underwent surgery, with Trouillas grading assigned to 296. Eight-nine radiologically non-invasive PitNETs progressed to grades 1b (27), 2a (42), or 2b (20) due to proliferative or surgical invasiveness criteria. Twenty-six radiologically invasive tumors were graded 2b due to proliferative criteria. Surgical resection details and post-surgical MRI findings revealed that residual tumors were more common in grades 2a and 2b. During surgery, small tumor remnants were documented in 14 patients which were not visible on post-surgical MRI. Post-surgical MRIs identified remnants in 19 PitNETs not seen during surgery, located in lateral recesses of the sella (4), retrosellar (2), or suprasellar regions (7), along the medial wall of the cavernous sinus (6). Conclusions: The Pituitary Board allows for the correct grading of PitNETs to be obtained and an accurate identification of high-risk patients who should undergo closer surveillance due to tumor remnants.
Language	English
Publishing date	2024-01-26
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics14030274
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Article ; Online: A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis

d’Apolito, Maria / Santoro, Francesco / Santacroce, Rosa / Cordisco, Giorgia / Ragnatela, Ilaria / D’Arienzo, Girolamo / Pellegrino, Pier Luigi / Brunetti, Natale Daniele / Margaglione, Maurizio

Genes (Basel). 2023 Feb. 08, v. 14, no. 2

2023

Abstract: Background: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated to sudden cardiac death. Overall, variants have been identified in eighteen genes encoding for ion channel subunits and seven genes for regulatory proteins. ... ...

Abstract	Background: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated to sudden cardiac death. Overall, variants have been identified in eighteen genes encoding for ion channel subunits and seven genes for regulatory proteins. Recently, a missense variant in DLG1 has been found within a BrS phenotype-positive patient. DLG1 encodes for synapse associated protein 97 (SAP97), a protein characterized by the presence of multiple domains for protein–protein interactions including PDZ domains. In cardiomyocytes, SAP97 interacts with Nav1.5, a PDZ binding motif of SCN5A and others potassium channel subunits. Aim of the Study: To characterize the phenotype of an Italian family with BrS syndrome carrying a DLG1 variant. Methods: Clinical and genetic investigations were performed. Genetic testing was performed with whole-exome sequencing (WES) using the Illumina platform. According to the standard protocol, a variant found by WES was confirmed in all members of the family by bi-directional capillary Sanger resequencing. The effect of the variant was investigated by using in silico prediction of pathogenicity. Results: The index case was a 74-year-old man with spontaneous type 1 BrS ECG pattern that experienced syncope and underwent ICD implantation. WES of the index case, performed assuming a dominant mode of inheritance, identified a heterozygous variant, c.1556G>A (p.R519H), in the exon 15 of the DLG1 gene. In the pedigree investigation, 6 out of 12 family members had the variant. Carriers of the gene variant all had BrS ECG type 1 drug induced and showed heterogeneous cardiac phenotypes with two patients experiencing syncope during exercise and fever, respectively. The amino acid residue #519 lies near a PDZ domain and in silico analysis suggested a causal role for the variant. Modelling of the resulting protein structure predicted that the variant disrupts an H-bond and a likelihood of being pathogenic. As a consequence, it is likely that a conformational change affects protein functionality and the modulating role on ion channels. Conclusions: A DLG1 gene variant identified was associated with BrS. The variant could modify the formation of multichannel protein complexes, affecting ion channels to specific compartments in cardiomyocytes.
Keywords	amino acids ; cardiomyocytes ; computer simulation ; death ; drugs ; exercise ; exons ; fever ; heterozygosity ; pathogenicity ; patients ; pedigree ; phenotype ; potassium channels ; prediction ; protein structure ; synapse ; syncope
Language	English
Dates of publication	2023-0208
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14020427
Database	NAL-Catalogue (AGRICOLA)

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