Article
Neurosciences
Maxim De Schaepdryver, Pegah Masrori, Philip Van Damme, Koen Poesen
Summary: The aim of this study was to investigate the impact of measuring neurofilament levels in cerebrospinal fluid (CSF) before referral to a neuromuscular reference center (NMRC) on the diagnostic delay in patients with amyotrophic lateral sclerosis (ALS). The results showed that measuring neurofilament levels in CSF before referral shortened the diagnostic delay in specific cases, but this effect disappeared when other covariates were taken into account.
CNS NEUROSCIENCE & THERAPEUTICS
(2023)
Article
Medicine, General & Internal
Julia Costa, Marta Gromicho, Ana Pronto-Laborinho, Conceicao Almeida, Ricardo A. Gomes, Ana C. L. Guerreiro, Abel Oliva, Susana Pinto, Mamede de Carvalho
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease causing motor neuron dysfunction, with chitinases like Chitotriosidase and chitinase-3-like proteins showing potential as important biomarkers for disease progression in ALS patients.
Article
Biochemistry & Molecular Biology
Sungtaek Oh, Yura Jang, Chan Hyun Na
Summary: This study used discovery-based approaches and quantitative comparative analyses to identify differential proteins in the cerebrospinal fluid (CSF) of patients with ALS. They found 15 proteins that showed significant differences between ALS and the control group, providing a foundation for biomarker research in ALS.
Article
Neurosciences
Marie Dreger, Robert Steinbach, Nayana Gaur, Klara Metzner, Beatrice Stubendorff, Otto W. Witte, Julian Grosskreutz
Summary: The study investigated the correlation between CSF NfL levels and disease aggressiveness in ALS using the D50 disease progression model. Significant differences in NfL concentrations were found between different disease aggressiveness subgroups, indicating an increase of NfL levels with more aggressive disease progression. The study suggests that CSF NfL could potentially serve as a biomarker for disease aggressiveness in ALS, but further research is needed to address analytical variations.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Hugo Alarcan, Romane Chaumond, Patrick Emond, Isabelle Benz-De Bretagne, Antoine Lefevre, Salah-eddine Bakkouche, Charlotte Veyrat-Durebex, Patrick Vourc'h, Christian Andres, Philippe Corcia, Helene Blasco
Summary: This study aimed to evaluate the kynurenine pathway and amino acids profile in the cerebrospinal fluid of ALS patients, revealing some metabolites involved in group discrimination and identifying common discriminant metabolites for disease evolution criteria. The findings suggest a possible impairment of the kynurenine pathway towards neurotoxicity in ALS patients and highlight the need for further exploration of these pathways during disease evolution.
Review
Neurosciences
Federico Verde, Markus Otto, Vincenzo Silani
Summary: ALS and FTD are currently incurable neurodegenerative diseases lacking specific neurochemical biomarkers, but NFL has shown considerable progress as a biomarker in both diseases, distinguishing them from mimic conditions and providing prognostic information.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Cell Biology
Tanja Ducic, Jan Christoph Koch
Summary: By analyzing the cerebrospinal fluid (CSF) of ALS patients using FTIR spectroscopy, this study reveals significant changes in the molecular contents, including RNA, glutamate, carbohydrates, and key markers of lipid metabolism. These findings suggest that FTIR characterization of CSF could be a powerful tool for ALS diagnosis and provide insights into the pathophysiology of ALS.
Article
Medicine, General & Internal
Greig Joilin, Elizabeth Gray, Alexander G. Thompson, Kevin Talbot, P. Nigel Leigh, Sarah F. Newbury, Martin R. Turner, Majid Hafezparast
Summary: In this study, we investigated the expression of non-coding RNA transcripts in the cerebrospinal fluid of ALS patients compared to healthy controls. RNA-seq identified dysregulated non-coding RNA transcripts, but these were not validated with RT-qPCR. We conclude that cerebrospinal fluid is not a suitable source of diagnostic biomarkers.
ANNALS OF MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Sebastian Sjoqvist, Kentaro Otake
Summary: The study analyzed cerebrospinal fluid (CSF) from ALS patients and identified several proteins that could potentially serve as biomarkers for the disease. These findings could contribute to the early diagnosis and treatment of ALS, as well as enhance our understanding of its pathology.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Neurosciences
Agathe Vrillon, Vincent Deramecourt, Florence Pasquier, Eloi Magnin, David Wallon, Pierre Lozeron, Elodie Bouaziz-Amar, Claire Paquet
Summary: ALS and frontotemporal dementia are closely related, but association of ALS with Alzheimer's disease is rare. This study reported 5 cases of ALS associated with AD, with patients initially presenting with AD symptoms before developing ALS. The study suggests that ALS-AD phenotype could be an underexplored entity.
JOURNAL OF ALZHEIMERS DISEASE
(2021)
Article
Immunology
Anne-Lene Kjaeldgaard, Katrine Pilely, Karsten Skovgaard Olsen, Anne Oberg Lauritsen, Stephen Worlich Pedersen, Kirsten Svenstrup, Merete Karlsborg, Helle Thagesen, Morten Blaabjerg, Asta Theodorsdottir, Elisabeth Gundtoft Elmo, Anette Torvin Moller, Niels Anker Pedersen, Niels Kirkegaard, Kirsten Moller, Peter Garred
Summary: This study compared levels of selected complement markers to clinical outcome in ALS patients and found that patients exhibited aberrant expression of certain complement markers, suggesting the involvement of the complement system in the pathophysiology of ALS.
JOURNAL OF INFLAMMATION RESEARCH
(2021)
Review
Clinical Neurology
Cristiano Farace, Giovanni Fiorito, Andrea Pisano, Federica Etzi, Angela Sabalic, Grazia Fenu, Yolande Asara, Giuliana Solinas, Roberto Madeddu
Summary: This study aims to combine the current scientific literature evidence and clarify the differences in lead (Pb) bioaccumulation in human tissues by comparing amyotrophic lateral sclerosis (ALS) patients and healthy controls. The results show higher Pb levels in the blood, plasma/serum, and cerebrospinal fluid of ALS cases compared to controls. However, due to the lack of association studies in solid tissues, a robust meta-analysis could not be conducted. Future prospective studies are needed to determine the causality of lead bioaccumulation in ALS.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Daniel Baumgartner, Radim Mazanec, Jitka Hanzalova
Summary: This study measured the levels of NfL and p-NfH in cerebrospinal fluid (CSF) and p-NfH in serum to assess their diagnostic performance as markers of MND. The results showed that NfL and p-NfH in CSF were reliable diagnostic markers for MND, while p-NfH in serum had limited diagnostic ability.
JOURNAL OF NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Aida Kamalian, Iman Foroughmand, Lassi Koski, Mahtab Darvish, Amene Saghazadeh, Amirhossein Kamalian, Seyedeh Zahra Emami Razavi, Siamak Abdi, Shahram Rahimi Dehgolan, Akbar Fotouhi, Per M. Roos
Summary: Metal concentrations in body fluids and tissues of ALS patients were analyzed, and elevated levels of lead and selenium were found, suggesting their involvement in the pathophysiology of ALS.
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY
(2023)
Article
Medicine, General & Internal
Mustafa Al-Zamil, Natalia A. A. Shnayder, Tatiana K. K. Davydova, Regina F. F. Nasyrova, Vera V. V. Trefilova, Ekaterina A. A. Narodova, Marina M. M. Petrova, Irina V. V. Romanova, Galina A. A. Chumakova
Summary: Chiari 1 Malformation (CM1) is a rare disease characterized by the displacement of the cerebellar tonsils into the spinal cord. It is mainly caused by a structural defect in the skull, which compresses the cerebellum. CM1 can present with various non-specific symptoms, leading to controversies in diagnosis and treatment decisions. Other disorders, such as syringomyelia, hydrocephalus, and craniocervical instability, can also be associated with CM1. In this case, a young man with CM1 and a large syringomyelic cyst showed ALS mimic syndrome, which was initially misdiagnosed as ALS. Surgical treatment did not effectively treat CM1 but stabilized the course of ALS mimic syndrome.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Gastroenterology & Hepatology
Ferenc Emil Mozes, Jenny A. Lee, Emmanuel Anandraj Selvaraj, Arjun Narayan Ajmer Jayaswal, Michael Trauner, Jerome Boursier, Celine Fournier, Katharina Staufer, Rudolf E. Stauber, Elisabetta Bugianesi, Ramy Younes, Silvia Gaia, Monica Lupsor-Platon, Salvatore Petta, Toshihide Shima, Takeshi Okanoue, Sanjiv Mahadeva, Wah-Kheong Chan, Peter J. Eddowes, Gideon M. Hirschfield, Philip Noel Newsome, Vincent Wai-Sun Wong, Victor de Ledinghen, Jiangao Fan, Feng Shen, Jeremy F. Cobbold, Yoshio Sumida, Akira Okajima, Joern M. Schattenberg, Christian Labenz, Won Kim, Myoung Seok Lee, Johannes Wiegand, Thomas Karlas, Yusuf Yilmaz, Guruprasad Padur Aithal, Naaventhan Palaniyappan, Christophe Cassinotto, Sandeep Aggarwal, Harshit Garg, Geraldine J. Ooi, Atsushi Nakajima, Masato Yoneda, Marianne Ziol, Nathalie Barget, Andreas Geier, Theresa Tuthill, M. Julia Brosnan, Quentin Mark Anstee, Stefan Neubauer, Stephen A. Harrison, Patrick M. Bossuyt, Michael Pavlides
Summary: Liver biopsy is still necessary for fibrosis staging in patients with non-alcoholic fatty liver disease. This study evaluated the diagnostic performance of liver stiffness measurement, FIB-4 Index, and NAFLD Fibrosis Score, and showed that sequential combinations of markers can reduce the need for liver biopsies.
Article
Gastroenterology & Hepatology
Marta B. Afonso, Tawhidul Islam, Julie Magusto, Ricardo Amorim, Veronique Lenoir, Rui F. Simoes, Jose Teixeira, Liana C. Silva, Dominique Wendum, Isabelle Jeru, Corinne Vigouroux, Rui E. Castro, Paulo J. Oliveira, Carina Prip-Buus, Vlad Ratziu, Jeremie Gautheron, Cecilia M. P. Rodrigues
Summary: Ripk3 deficiency protects against mitochondrial and lipid droplet dysfunction in CDAA-fed mice and fat-loaded hepatocytes, accompanied by upregulation of antioxidant systems. Ripk3 deficiency leads to smaller and increased numbers of lipid droplets in Ripk3(-/-) hepatocytes, and upregulates LD-associated proteins PLIN1 and PLIN5. Upregulation of PLIN1 not only controls LD structure but also alleviates mitochondrial stress.
Article
Medicine, Research & Experimental
Jacinta O. Pinho, Mariana Matias, Vanda Marques, Carla Eleuterio, Celia Fernandes, Lurdes Gano, Joana D. Amaral, Eduarda Mendes, Maria Jesus Perry, Jao Nuno Moreira, Gert Storm, Ana Paula Francisco, Cecilia M. P. Rodrigues, M. Manuela Gaspar
Summary: Researchers synthesized a new hybrid molecule that showed remarkable antiproliferative activity against melanoma by specifically activating tyrosinase. They also demonstrated that incorporating the molecule into long blood circulating liposomes allowed for passive targeting of tumor sites, leading to high therapeutic efficacy.
BIOMEDICINE & PHARMACOTHERAPY
(2023)
Article
Biochemistry & Molecular Biology
Vanda Marques, Susana Ouro, Marta B. Afonso, Cecilia M. P. Rodrigues
Summary: Response to chemoradiotherapy in patients with locally advanced rectal cancer is variable. Imbalance in leptin and adiponectin might modulate stemness potential and CRT response in rectal cancer. CEA levels, STAT3 activation, and OCT4/KLF4 expression accurately identify CRT non-responders in rectal cancer patients.
JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY
(2023)
Article
Biochemistry & Molecular Biology
Marta Clariano, Vanda Marques, Joao Vaz, Salma Awam, Marta B. Afonso, Maria Jesus Perry, Cecilia M. P. Rodrigues
Summary: The stability, bioavailability, and pharmacokinetic profiles of monocarbonyl analogs of curcumin were evaluated in this study. The curcumin analog 1e showed promising potential as an agent against colorectal cancer, with improved stability and efficacy/safety profile.
CHEMISTRY & BIODIVERSITY
(2023)
Review
Gastroenterology & Hepatology
Andre A. Santos, Teresa C. Delgado, Vanda Marques, Carmen Ramirez-Moncayo, Cristina Alonso, Antonio Vidal-Puig, Zoe Hall, Maria Luz Martinez-Chantar, Cecilia M. P. Rodrigues
Summary: Hepatocytes in different lobule zones show distinct gene expression profiles, metabolic features, regenerative capacity, and susceptibility to damage due to the heterogeneity in oxygen, nutrient, and hormone gradients across the radial axis of the hepatic lobule. Metabolomic approaches provide a deeper understanding of the spatial metabolic profile and intercellular heterogeneity, contributing to the study of liver disease. These approaches allow for a comprehensive characterization of liver metabolic function with high spatial resolution. The challenges in achieving metabolome coverage at the single-cell level are also discussed.
Article
Health Care Sciences & Services
Elsa Lorthe, Carolina Santos, Jose Pedro Ornelas, Julia Nadine Doetsch, Sandra C. S. Marques, Raquel Teixeira, Ana Cristina Santos, Carina Rodrigues, Goncalo Goncalves, Pedro Ferreira Sousa, Joao Correia Lopes, Artur Rocha, Henrique Barros
Summary: This study aimed to assess the feasibility of recruiting and following up an e-cohort of adults born preterm worldwide and provide estimations of participation, characteristics of participants, the acceptability of questions, and the quality of data collected. The results showed that a total of 1004 persons had registered on the platform, with 333 participants completing the baseline questionnaire and 119 participants participating in the follow-up. The participants were diverse in sociodemographic and health characteristics, and the data collected had good quality.
JOURNAL OF MEDICAL INTERNET RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Davide Gnocchi, Marta B. Afonso, Maria Maddalena Cavalluzzi, Giovanni Lentini, Giuseppe Ingravallo, Carlo Sabba, Cecilia M. P. Rodrigues, Antonio Mazzocca
Summary: Hepatocellular carcinoma (HCC) is a concerning and increasingly prevalent tumor. Traditional pharmacological approaches have limitations and side effects, necessitating the development of new molecules. This study shows that LPAR6 plays a role in CDAA diet-induced HCC in mice, and XAA can counteract diet-induced effects on liver health. These findings are supported by experiments in HCC cells with altered LPAR6 function.
MOLECULAR CARCINOGENESIS
(2023)
Article
Pharmacology & Pharmacy
Joana Lopes, Tania Ferreira-Goncalves, Lia Ascensao, Ana S. Viana, Lina Carvalho, Jose Catarino, Pedro Faisca, Abel Oliva, Dragana P. C. de Barros, Cecilia M. P. Rodrigues, Maria Manuela Gaspar, Catarina Pinto Reis
Summary: Gold nanoparticles (AuNPs) have attracted the interest of researchers due to their unique properties, and are being explored for diagnostics and therapy, particularly in cancer cell ablation. Safety is a crucial factor for medical applications, so the physicochemical properties and morphology of AuNPs coated with different materials were characterized. The safety of the developed AuNPs was evaluated in various cell lines, skin models, and biosafety assays, showing no significant toxicity.
Editorial Material
Biochemistry & Molecular Biology
Fernando Capela e Silva, Cecilia M. P. Rodrigues
Article
Chemistry, Analytical
Cristiana Domingues, Pedro Mendes Fontes, Pedro G. M. Condelipes, Vanda Marques, Marta B. Afonso, Virginia Chu, Cecilia M. P. Rodrigues, Joao Pedro Conde
Summary: A microfluidic platform was developed to detect the release of adenylate kinase (AK) from 10-100 human colorectal adenocarcinoma HCT116 cells. The AK was captured on microbeads and detected using a fluorescently labelled anti-AK antibody. Microfluidic technologies have also been used to develop two- and three-dimensional cell culture models for drug discovery acceleration. The microfluidic platform was successfully integrated with a cell chip to detect AK release from HCT116 cells.
Review
Medicine, Research & Experimental
Vanda Marques, Fabiola Arella, Marta B. Afonso, Andre A. Santos, Cecilia M. P. Rodrigues
Summary: The increasing prevalence of obesity brings forward its importance as a risk factor for cancer development, particularly in the gastrointestinal tract. Obesity may trigger cancer development through several mechanisms, where metabolic deregulation of adipokines can modulate multiple oncogenic molecular pathways.
Article
Gastroenterology & Hepatology
Claudia Einer, Ditte Emilie Munk, Eok Park, Banu Akdogan, Judith Nagel, Josef Lichtmannegger, Carola Eberhagen, Tamara Rieder, Mikkel H. Vendelbo, Bernhard Michalke, Ralf Wimmer, Andreas Blutke, Annette Feuchtinger, Philip Dershwitz, Ana M. DiSpirito, Tawhidul Islam, Rui E. Castro, Byong-Keol Min, TaeWon Kim, Seoyoun Choi, Dasol Kim, Chunwon Jung, Hongjae Lee, Dongsik Park, Weonbin Im, So-Young Eun, You-Hee Cho, Jeremy D. Semrau, Cecilia M. P. Rodrigues, Simon Hohenester, Thomas Damgaard Sandahl, Alan A. DiSpirito, Hans Zischka
Summary: This study tested the efficiency and safety of bacteria-derived copper binding agents (MBs) in depleting excess copper from the livers of WD rats, and found that a copper-binding agent called ARBM101 can effectively deplete liver copper to normal levels within 8 days. They developed a new treatment approach consisting of repetitive cycles of ARBM101 applications followed by rest periods to ensure long-term survival in WD rats.
Article
Gastroenterology & Hepatology
Pedro M. Rodrigues, Marta B. Afonso, Andre L. Simao, Tawhidul Islam, Maria M. Gaspar, Colm J. O'Rourke, Monika Lewinska, Jesper B. Andersen, Enara Arretxe, Cristina Alonso, Alvaro Santos-Laso, Laura Izquierdo-Sanchez, Raul Jimenez-Aguero, Emma Eizaguirre, Luis Bujanda, Maria J. Pareja, Carina Prip-Buus, Jesus M. Banales, Cecilia M. P. Rodrigues, Rui E. Castro
Summary: This study evaluated the role of hsa-miRNA-21-5p in the development of hepatocellular carcinoma (HCC) in non-alcoholic fatty liver disease (NAFLD) patients. The expression of hsa-miRNA-21-5p was found to increase with NAFLD severity and was associated with hepatic lipotoxicity. Inhibition of hsa-miRNA-21-5p was shown to prevent the progression of NAFLD to NASH and HCC.
LIVER INTERNATIONAL
(2023)
Article
Chemistry, Multidisciplinary
Ana I. I. Matos, Carina Peres, Barbara Carreira, Liane I. F. Moura, Rita C. C. Acurcio, Theresa Vogel, Erik Wegener, Filipa Ribeiro, Marta B. B. Afonso, Fabio M. F. Santos, Agueda Martinez-Barriocanal, Diego Arango, Ana S. S. Viana, Pedro M. P. Gois, Liana C. C. Silva, Cecilia M. P. Rodrigues, Luis Graca, Rainer Jordan, Ronit Satchi-Fainaro, Helena F. F. Florindo
Summary: Activation of host immunity by using a POx-PLGA nanovaccine to modulate TAM function and block PD-1, combined with the delivery of peptide antigens, adjuvants, and regulators of TGF-β expression, provides an alternative approach for cancer immunotherapy.
