Review
Immunology
Guangwen Wang, Wenshi Wang
Summary: GBM is a highly treatment-resistant tumor with a poor prognosis, and it has proven to be resistant to both traditional and newer immunotherapies. The need for innovative and efficient treatment strategies is urgent. This review provides a comprehensive overview of various cell therapies currently being used to treat GBM, discussing their efficacy, safety, mechanisms, and challenges, with the aim of identifying the next-generation immunotherapeutic approach to eliminate this dreadful disease.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Cell Biology
Alvaro Sierra-Sanchez, Trinidad Montero-Vilchez, Maria I. Quinones-Vico, Manuel Sanchez-Diaz, Salvador Arias-Santiago
Summary: The use of human mesenchymal stem cells for the treatment of skin diseases has emerged as a promising strategy, with various sources and clinical studies being actively explored. However, further research is needed to determine the best treatment approach for each patient and disease.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Cell Biology
Jayden A. Smith, Alexandra M. Nicaise, Rosana-Bristena Ionescu, Regan Hamel, Luca Peruzzotti-Jametti, Stefano Pluchino
Summary: Multiple sclerosis is a chronic inflammatory disease of the central nervous system characterized by demyelination and axonal degeneration. While current treatments for progressive MS are limited, stem cell transplantation shows promise in providing neurotrophic support, immunomodulation, and cell replacement to combat chronic neuroinflammation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Agriculture, Dairy & Animal Science
Ana Belen Garcia-Delgado, Rafael Campos-Cuerva, Cristina Rosell-Valle, Maria Martin-Lopez, Carlos Casado, Daniela Ferrari, Javier Marquez-Rivas, Rosario Sanchez-Pernaute, Beatriz Fernandez-Munoz
Summary: In this study, we developed an experimental model using human stem cells grown in vitro to form brain organoids, and evaluated their potential for assessing the safety of cell therapy products. Our results suggest that brain organoids provide valuable information in the evaluation of cell therapies, and can help reduce the use of animals in regulatory studies.
Review
Biochemistry & Molecular Biology
Reed Berlet, Stefan Anthony, Beverly Brooks, Zhen-Jie Wang, Nadia Sadanandan, Alex Shear, Blaise Cozene, Bella Gonzales-Portillo, Blake Parsons, Felipe Esparza Salazar, Alma R. Lezama Toledo, German Rivera Monroy, Joaquin Vega Gonzales-Portillo, Cesario Borlongan
Summary: Combining stem cell transplantation with rehabilitation therapy presents a promising approach in treating stroke, with potential for better functional outcomes for patients. This comprehensive review assesses the advantages and disadvantages of using this combined therapy to mitigate the devastating effects of stroke.
Review
Cell Biology
Beryl Laplace-Builhe, Sarah Bahraoui, Christian Jorgensen, Farida Djouad
Summary: This review discusses the limitations of current cell-based therapies for degenerative diseases, particularly the issues with long-term effects of MSC therapy, and highlights the important lessons learned from regenerative species in understanding complex regeneration processes. The article points out that while MSC injection has positive effects, the short-term benefits are not lasting and have limited impact on tissue regeneration.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Biology
Michael H. Storandt, Peter C. Kurniali, Amit Mahipal, Zhaohui Jin
Summary: Primary tumor resection and liver transplantation are the main treatment options for cholangiocarcinoma (CCA), but for advanced or metastatic cases, palliative systemic therapy is the only option. Targeted therapies, such as mutated isocitrate dehydrogenase-1, HER2 overexpression/amplification, and FGFR2 fusion, have shown promise in CCA treatment. Multiple novel therapies have been developed to target these genetic alterations, with some receiving FDA approval for second-line use.
Review
Biochemistry & Molecular Biology
Peter Valent, Cem Akin, Michel Arock, Karoline V. Gleixner, Hildegard Greinix, Olivier Hermine, Hans-Peter Horny, Daniel Ivanov, Alberto Orfao, Werner Rabitsch, Andreas Reiter, Axel Schulenburg, Karl Sotlar, Wolfgang R. Sperr, Celalettin Ustun
Summary: This article discusses treatment options for patients with drug-resistant advanced SM, including novel KIT-targeting drugs, antibody-based drugs, and stem cell-eradicating therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell & Tissue Engineering
Aekkachai Tuekprakhon, Siripakorn Sangkitporn, Adisak Trinavarat, Aulia Rahmi Pawestri, Visit Vamvanij, Monchai Ruangchainikom, Panya Luksanapruksa, Phitchapa Pongpaksupasin, Areerat Khorchai, Acharaporn Dambua, Patcharaporn Boonchu, Chonlada Yodtup, Mongkol Uiprasertkul, Somchai Sangkitporn, La-ongsri Atchaneeyasakul
Summary: Intravitreal injection of BM-MSCs was found to be safe and potentially effective in treating advanced RP. The study observed mild and transient adverse events in the short-term, with improvements in BCVA but no remarkable progression in VF and CST. Long-term follow-up suggested the need for further assessment with larger sample sizes and less advanced cases.
STEM CELL RESEARCH & THERAPY
(2021)
Review
Neurosciences
Margarida Beatriz, Carla Lopes, Ana Claudia S. Ribeiro, Ana Cristina Carvalho Rego
Summary: Neurodegenerative movement disorders such as Huntington's disease exhibit progressive motor disability and neuropsychiatric impairment. Restorative therapies show promise in restoring brain circuits, but clinical trials have shown mixed results. Researchers are exploring cell replacement therapies and genetic interventions in animal models and patients with HD.
JOURNAL OF NEUROSCIENCE RESEARCH
(2021)
Review
Oncology
Shenduo Li, Guilherme Sacchi de Camargo Correia, Jing Wang, Rami Manochakian, Yujie Zhao, Yanyan Lou
Summary: Lung cancer is the leading cause of cancer-related deaths globally, with non-small-cell lung cancer (NSCLC) being the most common type. Although targeted therapy has improved survival in NSCLC patients with actionable mutations, therapy resistance and lack of targeted agents for certain oncogenic driver mutations remain challenges. This review summarizes emerging targeted therapies that have been tested in first-in-human clinical trials in the past year.
Article
Clinical Neurology
Alberto Albanese, Albert Christian Ludolph, Christopher J. J. McDermott, Philippe Corcia, Philip Van Damme, Leonard H. Van den Berg, Orla Hardiman, Gilberto Rinaldi, Nicola Vanacore, Brian Dickie
Summary: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease with limited treatment options, riluzole being the only approved drug in Europe. The TUDCA-ALS trial is a multinational study to evaluate the disease-modifying effects of TUDCA in ALS.
FRONTIERS IN NEUROLOGY
(2022)
Article
Neurosciences
Thanh G. Phan, Rebecca Lim, Siow T. Chan, Hannah McDonald, Poh-Yi Gan, Shenpeng R. Zhang, Liz J. Barreto J. Arce, Jason Vuong, Tharani Thirugnanachandran, Benjamin Clissold, John Ly, Shaloo Singhal, Marie Veronic Hervet, Hyun Ah Kim, Grant R. Drummond, Euan M. Wallace, Henry Ma, Christopher G. Sobey
Summary: This study conducted a Phase I dose escalation trial to evaluate the safety of allogeneic human amniotic epithelial cells (hAECs) in stroke patients, with the aim of informing the design of a Phase II trial. The results showed that a maximal dose of 2 x 10(6)/kg hAECs given intravenously each day over 2 days is safe and optimal for use in a Phase II trial.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Oncology
Lisa Zimmer, Elisabeth Livingstone, Angela Krackhardt, Erwin S. Schultz, Daniela Goppner, Chalid Assaf, Dietrich Trebing, Kai Stelter, Christine Windemuth-Kieselbach, Selma Ugurel, Dirk Schadendorf
Summary: The study presented phase I safety results of triplet therapy with PEM, ENC, and BIN in patients with advanced, BRAF(V600)-mutated melanoma, showing feasibility, safety, and clinically meaningful disease control.
EUROPEAN JOURNAL OF CANCER
(2021)
Article
Biochemistry & Molecular Biology
Bertrand Routy, John G. Lenehan, Wilson H. Miller, Rahima Jamal, Meriem Messaoudene, Brendan A. Daisley, Cecilia Hes, Kait F. Al, Laura Martinez-Gili, Michal Puncochar, Scott Ernst, Diane Logan, Karl Belanger, Khashayar Esfahani, Corentin Richard, Marina Ninkov, Gianmarco Piccinno, Federica Armanini, Federica Pinto, Mithunah Krishnamoorthy, Rene Figueredo, Pamela Thebault, Panteleimon Takis, Jamie Magrill, LeeAnn Ramsay, Lisa Derosa, Julian R. Marchesi, Seema Nair Parvathy, Arielle Elkrief, Ian R. Watson, Rejean Lapointe, Nicola Segata, S. M. Mansour Haeryfar, Benjamin H. Mullish, Michael S. Silverman, Jeremy P. Burton, Saman Maleki Vareki
Summary: A multicenter phase I trial evaluated the safety and efficacy of fecal microbiota transplantation (FMT) combined with PD-1 inhibitors in first-line treatment of advanced melanoma. The results showed that FMT from healthy donors was safe and demonstrated potential antitumor effects in this setting.
Article
Biophysics
Maria Chiara Maccarone, Giacomo Magro, Claudio Albertin, Giovanni Barbetta, Salvatore Barone, Camilla Castaldelli, Patrizia Manica, Silvia Marcoli, Magda Mediati, Domenico Minuto, Patrizia Poli, Christian Sigurta, Gloria Raffaeta, Stefano Masiero
Summary: This is the first observational study in Italy to evaluate the short-term effects of spa rehabilitation on pain, mood, and quality of life in patients with musculoskeletal disorders. The study found that water-based exercise training alone or in combination with traditional thermal therapy can significantly improve pain, mood, and quality of life in degenerative or post-surgery musculoskeletal disorder patients.
INTERNATIONAL JOURNAL OF BIOMETEOROLOGY
(2023)
Letter
Anesthesiology
Daniele Coraci, Lucrezia Tognolo, Federica Gottardello, Elena Posanti, Stefano Masiero
Article
Surgery
Maria Chiara Maccarone, Erika Venturini, Erica Menegatti, Sergio Gianesini, Stefano Masiero
Summary: This scoping review evaluated the effects of water-based exercise on lymphedema patients by examining clinical studies and randomized controlled trials. Water-based exercise showed potential in improving pain, limb motor function, quality of life, and limb volume in lymphedema patients, but further research is needed to define specific protocols due to the heterogeneity in study populations and physical activity protocols.
JOURNAL OF VASCULAR SURGERY-VENOUS AND LYMPHATIC DISORDERS
(2023)
Article
Clinical Neurology
Jessica Rossi, Marco Russo, Giuseppe Gobbi, Alessandra Terracciano, Roberta Zuntini, Stefano Giuseppe Caraffi, Antonio Novelli, Livia Garavelli, Franco Valzania, Romana Rizzi
Summary: This article reports on a 30-year-old Italian woman with Raynaud-Claes syndrome. She exhibited symptoms such as early-onset drug-resistant epilepsy, developmental and epileptic encephalopathy, developmental delay, absence of verbal language development, and behavioral impairment. This is the first report of this mutation in the CLCN4 gene in a female patient.
BRAIN & DEVELOPMENT
(2023)
Article
Clinical Neurology
Maria Rubega, Massimiliano Facca, Vittorio Curci, Giovanni Sparacino, Franco Molteni, Eleonora Guanziroli, Stefano Masiero, Emanuela Formaggio, Alessandra Del Felice
Summary: Stroke recovery trajectories vary substantially. The need for tracking and prognostic biomarkers in stroke is utmost for prognostic and rehabilitative goals: electroencephalography (EEG) advanced signal analysis may provide useful tools toward this aim.
Article
Genetics & Heredity
Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, Chiara Dordoni, Berardo Rinaldi, Francesca Peluso, Stefano Giuseppe Caraffi, Federico Prefumo, Marino Signorelli, Matteo Zanzucchi, Silvia Bione, Claudia Ghigna, Silvia Sassi, Antonio Novelli, Enza Maria Valente, Andrea Superti-Furga, Livia Garavelli, Edoardo Errichiello
Summary: Spondylocostal dysostosis (SCD) is a condition caused by gene variants in the Notch signaling pathway. This study reports on two newborns and one fetus with SCD, who were found to carry LFNG gene variants through exome sequencing. The findings refine the understanding of the clinical and molecular features of SCD3 and highlight the usefulness of trio-based exome sequencing in prenatal and neonatal settings.
Review
Genetics & Heredity
Andrea Pietrobattista, Luca Della Volpe, Paola Francalanci, Lorenzo Figa Talamanca, Lidia Monti, Francesca Romana Lepri, Maria Sole Basso, Daniela Liccardo, Claudia Della Corte, Antonella Mosca, Tommaso Alterio, Silvio Veraldi, Francesco Callea, Antonio Novelli, Giuseppe Maggiore
Summary: Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, caused by loss-of-function variants in the SON gene, can affect multiple organs and have a wide spectrum of clinical symptoms. This study reports a case of ZTTK syndrome with chronic liver disease (CLD), which has not been previously reported in any series. Screening for liver involvement should be considered for patients with SON variants, and appropriate follow-up is necessary considering the role of SON in cancer development.
Article
Genetics & Heredity
Anna Paola Capra, Maria Angela La Rosa, Sara Briguori, Rosa Civa, Chiara Passarelli, Emanuele Agolini, Antonio Novelli, Silvana Briuglia
Summary: Technological advancements in molecular genetics and cytogenetics have allowed for the diagnosis of complex or atypical clinical cases. This paper presents a genetic analysis that identifies multiple co-occurring conditions in three unrelated patients. These conditions include chromosomal abnormalities and sequence variants in genes associated with different genetic disorders. The identification of these multiple conditions has important implications for genetic counseling and long-term follow-up.
Article
Genetics & Heredity
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Marco Tartaglia, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Summary: Pathogenic variants in RASA1 are associated with CM-AVM syndrome, which is characterized by a wide phenotypic variability, mainly affecting the central nervous system, spine, and skin. This condition has rarely been reported during the prenatal period, but it is important to recognize its prenatal signs due to the potential fatal consequences of undetected vascular malformations in newborns and family members.
Article
Pharmacology & Pharmacy
Laura Di Renzo, Antonella Smeriglio, Mariarosaria Ingegneri, Paola Gualtieri, Domenico Trombetta
Summary: Current evidence supports the use of EVOO and its minor components to improve cardiovascular and metabolic health. This study investigated the pharmacokinetics of DOPET, a bioactive compound in EVOO, on 20 healthy volunteers. Results showed higher bioavailability of DOPET compared to literature, suggesting the role of pharmaceutical formulation in its bioavailability and pharmacokinetics.
Article
Behavioral Sciences
Marina Trivisano, Angela De Dominicis, Fabrizia Stregapede, Chiara Quintavalle, Alessia Micalizzi, Simona Cappelletti, Maria Lisa Dentici, Lorenzo Sinibaldi, Costanza Calabrese, Alessandra Terracciano, Federico Vigevano, Antonio Novelli, Nicola Specchio
Summary: CSNK2B-related Neurodevelopmental Syndrome is a disease caused by pathogenic variants in CSNK2B, characterized by facial dysmorphisms, seizures, intellectual disability, and behavioral disturbances. In this study, ten new patients with CSNK2B-related Neurodevelopmental Syndrome were reported, providing insights into the molecular and clinical features of the disease, with a focus on epileptic and neurodevelopmental phenotypes. The study also highlights the high variability and familial association of the disease and emphasizes the importance of collecting detailed family history before genetic testing in patients with epilepsy and neurodevelopmental disorders.
EPILEPSY & BEHAVIOR
(2023)
Article
Pediatrics
Anwar Baban, Marianna Cicenia, Lorena Travaglini, Federica Cali, Gessica Vasco, Paola Francalanci, Antonio Novelli, Rachele Adorisio, Antonio Amodeo, Bruno Dallapiccola, Enrico Bertini, Fabrizio Drago
Summary: This article describes a toddler with severe heart failure who was successfully managed with a heart transplant. The authors emphasize the rarity of early onset Friedreich ataxia (FRDA) in toddlers and the need for further research on the variability of triplet repeat expansion in different tissues. They suggest considering FRDA even in cases of isolated cardiomyopathy and discuss the potential triggering effect of heart transplant on neurological symptoms.
MINERVA PEDIATRICS
(2023)
Article
Clinical Neurology
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L. Howe, Emanuele Agolini, Domenico A. Coviello, Ingrid van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia P. Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoit Mazel, Hana Safraou, Anne-Sophie Denomme-Pichon, Marjon A. van Slegtenhorst, Noor Giesbertz, Richard H. van Jaarsveld, Anna Childers, R. Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D. Buxbaum, Stephen W. Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco
Summary: Pavinato et al. describe a novel autosomal dominant neurodevelopmental disorder associated with loss of CAPRIN1, a regulator of the transport/translation of neuronal mRNAs critical for synaptic plasticity. The disorder is characterized by language impairment/speech delay, intellectual disability, attention deficit hyperactivity disorder, and autism spectrum disorder. They demonstrate morphological and functional alterations associated with this disorder in human neuronal models.
Article
Neurosciences
Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D'Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita
Summary: POLR3B gene encodes the RPC2 subunit of RNA polymerase III, and pathogenic variants are associated with various disorders, including hypomyelinating leukodystrophy and Charcot-Marie-Tooth syndrome type 1I. In this study, a new variant in the POLR3B gene was identified in a patient with developmental delay, epilepsy, and polyneuropathy.
Meeting Abstract
Biochemistry & Molecular Biology
Nader Khaleghi Hashemian, Gioia Mastromoro, Daniele Guadagnolo, Antonio Novelli, Antonio Pizzuti
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)