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JOURNAL ARTICLE
Oscar Crisafulli, Angela Berardinelli, Giuseppe D'Antona
Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult life...
2024: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
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JOURNAL ARTICLE
Omayema Taoussi, Diletta Berardinelli, Simona Zaami, Francesco Tavoletta, Giuseppe Basile, Robert Kronstrand, Volker Auwärter, Francesco P Busardò, Jeremy Carlier
Following isotonitazene scheduling in 2019, the availability of alternative 2-benzylbenzimidazole opioids (nitazenes) on the global drug market increased, resulting in many fatalities worldwide. Nitazenes are potent µ-opioid receptor agonists with strong narcotic/analgesic effects, and their concentrations in biological matrices are low, making the detection of metabolite biomarkers of consumption crucial to document use in clinical and forensic settings. However, there is little to no data on the metabolism of the most recently available nitazenes, especially desnitro-analogues...
April 6, 2024: Archives of Toxicology
#3
JOURNAL ARTICLE
João Neif Antonio Junior, Daniel D 'Almeida Preto, Maria Eduarda Zanatta Neder Lazarini, Marcos Alves de Lima, Murilo Bonatelli, Gustavo Noriz Berardinelli, Vinicius Duval da Silva, Céline Pinheiro, Rui Manuel Reis, Flavio Mavignier Cárcano
BACKGROUND: Cancer of unknown primary site (CUP) is a heterogeneous group of tumors for which the origin remains unknown. Clinical outcomes might be influenced by regulatory processes in its microenvironment. Microsatellite instability (MSI) is a predictive biomarker for cancer immunotherapy and its status, as well as co-occurrence with PD-L1 expression, is poorly evaluated. We aim to evaluate the expression of PD-L1 and the status of MSI in CUP and their possible associations with clinical-pathological features...
March 25, 2024: International Journal of Clinical Oncology
#4
JOURNAL ARTICLE
Xiaofei Bai, Harold E Smith, Andy Golden
Seipin (BSCL2), a conserved endoplasmic reticulum protein, plays a critical role in LD biogenesis and regulating LD morphology, pathogenic variants of which are associated with Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2). To model BSCL2 disease, we generated an orthologous BSCL2 variant seip-1(A185P) in Caenorhabditis elegans. In this study, we conducted an unbiased chemical mutagenesis screen to identify genetic suppressors that restore embryonic viability in the seip-1(A185P) mutant background...
March 8, 2024: Disease Models & Mechanisms
#5
JOURNAL ARTICLE
Valentina Russo, Giuseppe Prencipe, Annunziata Mauro, Mohammad El Khatib, Arlette A Haidar-Montes, Nico Cambise, Maura Turriani, Johannes Stöckl, Peter Steinberger, Loreto Lancia, Matthias Schnabelrauch, Paolo Berardinelli, Barbara Barboni
Tendon diseases pose a significant challenge in regenerative medicine due to the limited healing capacity of this tissue. Successful tendon regeneration requires a combination of angiogenesis, immune response, and tenogenesis processes. An effective tendon engineering (TE) strategy must finely tune this systems' interplay toward homeostasis. This study explores in vitro the paracrine influence of amniotic epithelial stem cells (AECs) engineered on a validated 3D electrospun PLGA scaffolds on HUVECs (angiogenesis), PBMCs/Jurkat (immune response), and AECs (tenogenic stem cell activation)...
April 2024: Materials today. Bio
#6
JOURNAL ARTICLE
F Maiuri, S Corvino, G Corazzelli, J Berardinelli, R M Di Crescenzo, M Del Basso De Caro
BACKGROUND: Meningiomas show variable tendency to recur. While risk factors of recurrence have been largely investigated in literature, paucity of data are available on the time to recurrence. To identify main factors affecting the time to recurrence to assist preoperative treatment decision-making strategy and to define a tailored clinical and neuroradiological follow-up. METHODS: Data of 35 patients with intracranial meningioma recurrences have been retrospectively reviewed...
February 26, 2024: World Neurosurgery
#7
REVIEW
Tamara Ius, Nicola Montemurro, Giuseppe Lombardi, Jacopo Berardinelli, Andrea Romano, Valeria Barresi, Giulia Cerretti, Alessia Guarnera, Alessandro Tel, Luigi Maria Cavallo, Francesco Pasqualetti, Alberto Feletti
Adult brainstem gliomas (BSGs) are a group of rare central nervous system tumors with varying prognoses and controversial standard treatment strategies. To provide an overview of current trends, a systematic review using the PRISMA guidelines, Class of evidence (CE) and strength of recommendation (SR), was conducted. The review identified 27 studies. Surgery was found to have a positive impact on survival, particularly for focal lesions with CE II SR C. Stereotactic image-guided biopsy was recommended when resective surgery was not feasible with CE II and SR B...
April 2024: Critical Reviews in Oncology/hematology
#8
JOURNAL ARTICLE
Zeying Li, Shan Jin, Tong Xu, Hongzhi Chen, Wenping Cai, Jin Du, Qiu Jin, Sihui Zhuang, Yan Qi, Wenyi Gu, Lijuan Pang
Seipin deficiency is an important cause of type 2 Berardinelli-Seip congenital dyslipidemia (BSCL2). BSCL2 is a severe lipodystrophy syndrome with lack of adipose tissue, hepatic steatosis, insulin resistance, and normal or higher bone mineral density. Bone marrow mesenchymal stem cells (BMSCs) are believed to maintain bone and fat homeostasis by differentiating into osteoblasts and adipocytes. We aimed to explore the role of seipin in the osteogenic/adipogenic differentiation balance of BMSCs. Seipin loxP/loxP mice are used to explore metabolic disorders caused by seipin gene mutations...
February 22, 2024: Stem Cells and Development
#9
JOURNAL ARTICLE
Luca Bello, Daniele Sabbatini, Aurora Fusto, Domenico Gorgoglione, Giovanni Umberto Borin, Martina Penzo, Pietro Riguzzi, Matteo Villa, Sara Vianello, Chiara Calore, Paola Melacini, Riccardo Vio, Andrea Barp, Grazia D'Angelo, Sandra Gandossini, Luisa Politano, Angela Berardinelli, Sonia Messina, Gian Luca Vita, Marina Pedemonte, Claudio Bruno, Emilio Albamonte, Valeria Sansone, Giovanni Baranello, Riccardo Masson, Guja Astrea, Adele D'Amico, Enrico Bertini, Marika Pane, Simona Lucibello, Eugenio Mercuri, Christopher Spurney, Paula Clemens, Lauren Morgenroth, Heather Gordish-Dressman, Craig M McDonald, Eric P Hoffman, Elena Pegoraro
BACKGROUND: Dilated cardiomyopathy (DCM) is a major complication of, and leading cause of mortality in Duchenne muscular dystrophy (DMD). Its severity, age at onset, and rate of progression display wide variability, whose molecular bases have been scarcely elucidated. Potential DCM-modifying factors include glucocorticoid (GC) and cardiological treatments, DMD mutation type and location, and variants in other genes. METHODS AND RESULTS: We retrospectively collected 3138 echocardiographic measurements of left ventricular ejection fraction (EF), shortening fraction (SF), and end-diastolic volume (EDV) from 819 DMD participants, 541 from an Italian multicentric cohort and 278 from the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS)...
February 16, 2024: Journal of Neuromuscular Diseases
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JOURNAL ARTICLE
Diletta Berardinelli, Omayema Taoussi, Jeremy Carlier, Anastasio Tini, Simona Zaami, Tom Sundermann, Francesco Paolo Busardò, Volker Auwärter
OBJECTIVES: N-piperidinyl etonitazene (etonitazepipne) is a newly synthesized opioid related to the 2-benzylbenzimidazole analog class. Etonitazepipne has been formally notified and placed under intensive monitoring in Europe in January 2022. Nitazenes have high affinity at µ-opioid receptor (MOR). Etonitazepipne, specifically shows a EC50 of 2.49 nM, suggesting about 50 times higher potency combined with higher efficacy compared to morphine. Antinociceptive potency l ('hot plate test' with rats) was 192-fold greater than that of morphine...
February 5, 2024: Clinical Chemistry and Laboratory Medicine: CCLM
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JOURNAL ARTICLE
David P Ebertz, Emily Steinhagen, Christine E Alvarado, Katherine Bingmer, Daniel Asher, Amy Berardinelli, John Ammori
INTRODUCTION: Handoffs between the operating room (OR) and post-anesthesia care unit (PACU) require a high volume and quality of information to be transferred. This study aimed to improve perioperative communication with a handoff tool. METHODS: Perioperative staff at a quaternary care center was surveyed regarding perception of handoff quality, and OR to PACU handoffs were observed for structured criteria. A 25-item tool was implemented, and handoffs were similarly observed...
January 12, 2024: Journal for Healthcare Quality: Official Publication of the National Association for Healthcare Quality
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JOURNAL ARTICLE
Cinzia Bettio, Federico Banchelli, Valentina Salsi, Roberto Vicini, Oscar Crisafulli, Lucia Ruggiero, Giulia Ricci, Elisabetta Bucci, Corrado Angelini, Angela Berardinelli, Silvia Bonanno, Maria Grazia D'Angelo, Antonio Di Muzio, Massimiliano Filosto, Erica Frezza, Lorenzo Maggi, Tiziana Mongini, Elena Pegoraro, Carmelo Rodolico, Marina Scarlato, Gaetano Vattemi, Daniele Velardo, Giuliano Tomelleri, Roberto D'Amico, Giuseppe D'Antona, Rossella Tupler
BACKGROUND: In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA). METHODS: People aged between 18 and 60 were recruited as being DRA carriers...
January 5, 2024: BMC Musculoskeletal Disorders
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JOURNAL ARTICLE
Giorgia Coratti, Marika Pane, Claudia Brogna, Adele D'Amico, Elena Pegoraro, Luca Bello, Valeria A Sansone, Emilio Albamonte, Elisabetta Ferraroli, Elena Stacy Mazzone, Lavinia Fanelli, Sonia Messina, Maria Sframeli, Michela Catteruccia, Gianpaolo Cicala, Anna Capasso, Martina Ricci, Silvia Frosini, Giacomo De Luca, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Giulia Norcia, Luigia Passamano, Marianna Scutifero, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D'Angelo, Daniela Leone, Riccardo Zanin, Gian Luca Vita, Chiara Panicucci, Claudio Bruno, Tiziana Mongini, Federica Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Giovanni Baranello, Claudia Dosi, Enrico Bertini, Vincenzo Nigro, Luisa Politano, Eugenio Mercuri
Duchenne muscular dystrophy (DMD) is a neuromuscular condition characterized by muscle weakness. The Performance of upper limb (PUL) test is designed to evaluate upper limb function in DMD patients across three domains. The aim of this study is to identify frequently lost or gained PUL 2.0 abilities at distinct functional stages in DMD patients. This retrospective study analyzed prospectively collected data on 24-month PUL 2.0 changes related to ambulatory function. Ambulant patients were categorized based on initial 6MWT distance, non-ambulant patients by time since ambulation loss...
December 3, 2023: Neuromuscular Disorders: NMD
#14
Altay Aliyev, Elgun Samadov, Arturan Ibrahimli, Akbar Hajiyev, Gunay Allahverdiyeva, Eldar Ahmadov
BACKGROUND: Berardinelli-Seip syndrome is an infrequently seen and potentially fatal genetic disorder characterized by the absence of adipose tissue. Herein, we report a first-in-literature liver transplant done on a 7-year-old girl because of liver cirrhosis caused by the Berardinelli-Seip syndrome. CASE REPORT: Physical examination showed prominent subdermal fat tissue loss and mild muscle hypertrophy, giving her a slim appearance, hirsutism, thick hair, a large head in contrast to the body, low anterior hairline, icterus, prominent facial contours, prominent mandibula, loss of buccal fat, low set ears, and large limbs...
December 27, 2023: Pediatric Transplantation
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REVIEW
Laura Carraro, Arianna Iosca, Maria Irene Dainesi, Sara Fusco, Daniela Pia Rosaria Chieffo, Federica Moriconi, Giulia d'Amario, Marika Pane, Eugenio Mercuri, Angela Berardinelli
Improvement in clinical conditions allowed physicians to pay more attention to the cognitive function in DMD patients, leading to description of a cognitive impairment not only in affected males, but in female carriers as well. This study aimed to investigate the cognitive involvement in a cohort of DMD carriers and to summarize the current knowledge about the intellectual involvement and neuropsychological profile in DMD/BMD carriers. Our case series consisted of 22 carrier patients from two different centers (IRCCS Mondino, Pavia and Policlinico Gemelli, Rome), for whom we retrospectively collected cognitive, clinical and genetic data...
2023: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
#16
Jacopo Berardinelli, Domenico Solari, Domenico di Maria, Giovanni Parbonetti, Luigi Maria Cavallo, Matteo de Notaris
No abstract text is available yet for this article.
December 7, 2023: World Neurosurgery
#17
JOURNAL ARTICLE
Marco Ferronato, Chiara Elide Lizzio, Dante Berardinelli, Desy Marini, Eleonora Elia, Lorenzo Andreetto, Alice Trentini, Maria Chiara Potenza, Carla Serra, Elena Mazzotta, Claudio Ricci, Riccardo Casadei, Marina Migliori
BACKGROUND: Magnetic resonance imaging (MRI) is regarded as gold-standard for intraductal papillary mucinous neoplasms (IPMNs) follow-up. Given the low risk of transformation and the increasing population under surveillance, there is growing interest in identifying optimal follow-up strategies. AIM: To evaluate reliability of abdominal ultrasound (US) for characterization of low-risk IPMN, compared to MRI. METHODS: Prospective monocentric study among 79 consecutive patients with a suspected BD-IPMN on US...
December 1, 2023: Digestive and Liver Disease
#18
JOURNAL ARTICLE
Rodrigo de Oliveira Cavagna, Edilene Santos de Andrade, Monise Tadin Reis, Flávia Escremim de Paula, Gustavo Noriz Berardinelli, Murilo Bonatelli, Gustavo Ramos Teixeira, Beatriz Garbe Zaniolo, Josiane Mourão Dias, Flávio Augusto Ferreira da Silva, Carlos Eduardo Baston Silva, Marina Xavier Reis, Erika Lopes Maia, Thainara Santos de Alencar, Alexandre Arthur Jacinto, Rachid Eduardo Noleto da Nóbrega Oliveira, Miguel A Molina-Vila, Letícia Ferro Leal, Rui Manuel Reis
NTRK1, 2, and 3 fusions are important therapeutic targets for NSCLC patients, but their prevalence in South American admixed populations needs to be better explored. NTRK fusion detection in small biopsies is a challenge, and distinct methodologies are used, such as RNA-based next-generation sequencing (NGS), immunohistochemistry, and RNA-based nCounter. This study aimed to evaluate the frequency and concordance of positive samples for NTRK fusions using a custom nCounter assay in a real-world scenario of a single institution in Brazil...
December 1, 2023: Scientific Reports
#19
REVIEW
Tamara Ius, Giuseppe Lombardi, Cinzia Baiano, Jacopo Berardinelli, Andrea Romano, Nicola Montemurro, Luigi Maria Cavallo, Francesco Pasqualetti, Alberto Feletti
The present review aims to investigate the survival and functional outcomes in adult high-grade brainstem gliomas (BGSs) by comparing data from resective surgery and biopsy. MEDLINE, EMBASE and Cochrane Library were screened to conduct a systematic review of the literature, according to the PRISMA statement. Analysis was limited to articles including patients older than 18 years of age and those published from 1990 to September 2022. Case reports, review articles, meta-analyses, abstracts, reports of aggregated data, and reports on multimodal therapy where surgery was not the primary treatment were excluded...
November 7, 2023: Current Oncology
#20
JOURNAL ARTICLE
Elena d'Avella, Francesca Vitulli, Jacopo Berardinelli, Giuseppe Cinalli, Domenico Solari, Paolo Cappabianca, Luigi Maria Cavallo
OBJECTIVE: The optimal surgical approach for pediatric craniopharyngiomas (CPs) remains a matter of debate, with selection bias classically precluding a fair comparison of outcomes between the transcranial approach (TCA) and endoscopic endonasal approach (EEA). The purpose of this systematic review was to analyze the current role of EEA in the treatment of pediatric CPs and to determine whether, upon expansion of its indications, a comparison with TCA is valid. METHODS: A systematic review of English-language articles published between February 2010 and June 2022 was performed to identify studies in the MEDLINE (PubMed) and Embase databases reporting on the resection of pediatric CPs...
January 1, 2024: Journal of Neurosurgery. Pediatrics
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