Review
Gastroenterology & Hepatology
Effie Polyzogopoulou, Pinelopi Amoiridou, Theodore P. Abraham, Ioannis Ventoulis
Summary: COVID-19 is associated with acute liver injury (ALI) in intensive care unit (ICU) patients. The underlying mechanisms of COVID-19 induced ALI remain unclear and there is currently no specific therapy for this condition. Preventive measures and supportive treatment are the main approach for COVID-19 induced ALI.
WORLD JOURNAL OF GASTROENTEROLOGY
(2022)
Article
Medicine, General & Internal
Yoann Zerbib, Nelly Guilain, Sebastien Eymieux, Rustem Uzbekov, Sandrine Castelain, Emmanuelle Blanchard, Catherine Francois, Denis Chatelain, Clement Brault, Julien Maizel, Philippe Roingeard, Michel Slama
Summary: This study provides a detailed histopathological description of fatal COVID-19 and compares the lesions in ICU and non-ICU patients. It reveals that lung injury differs between ICU and non-ICU patients, and extrapulmonary damage, such as kidney and myocardial injury, is more frequent in ICU patients. The study also presents the first description of SARS-CoV-2-induced double-membrane vesicles in kidney biopsy samples, indicating intense viral replication in this organ.
FRONTIERS IN MEDICINE
(2022)
Article
Multidisciplinary Sciences
Alger M. Fredericks, Maximilian S. Jentzsch, William G. Cioffi, Maya Cohen, William G. Fairbrother, Shivam J. Gandhi, Elizabeth O. Harrington, Gerard J. Nau, Jonathan S. Reichner, Corey E. Ventetuolo, Mitchell M. Levy, Alfred Ayala, Sean F. Monaghan
Summary: COVID-19 has impacted millions of patients worldwide. Deep RNA sequencing and computational biology analysis revealed the presence of SARS-CoV-2 RNA in both respiratory and blood samples of critically ill patients. Differential expression of immune modulating genes and alternative transcription and splicing events in certain proteins were associated with mortality in COVID-19 patients. Deep RNA sequencing with computational biology analysis can provide important prognostic information and guide therapeutic focus in future studies.
SCIENTIFIC REPORTS
(2022)
Article
Public, Environmental & Occupational Health
Valeria Carola, Cristina Vincenzo, Chiara Morale, Massimiliano Pelli, Monica Rocco, Giampaolo Nicolais
Summary: Psychological changes can be observed in patients with COVID-19, especially those who have been hospitalized in intensive care units. This study found that between 20 and 30% of patients still experienced moderate symptoms of depression, anxiety, and perceived stress even 1 and 6 months after discharge. Sleep problems, difficulty concentrating, confusion in placing events, and fear of reinfection were common among patients. Only 7% of patients showed PTSD symptoms after 6 months, while 50% showed post-traumatic growth in the appreciation of life. Patients who used adaptive coping strategies had lower levels of anxious-depressive symptoms and perceived stress compared to those with maladaptive strategies.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Immunology
Rebekah Penrice-Randal, Xiaofeng Dong, Andrew George Shapanis, Aaron Gardner, Nicholas Harding, Jelmer Legebeke, Jenny Lord, Andres F. F. Vallejo, Stephen Poole, Nathan J. J. Brendish, Catherine Hartley, Anthony P. P. Williams, Gabrielle Wheway, Marta E. E. Polak, Fabio Strazzeri, James P. R. Schofield, Paul J. J. Skipp, Julian A. A. Hiscox, Tristan W. W. Clark, Diana Baralle
Summary: The study found that analyzing the gene expression profiles of patients' blood samples taken at the point of admission can predict whether COVID-19 patients will require intensive care unit (ICU) admission. This finding can contribute to more efficient allocation of healthcare resources and improved patient outcomes.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Microbiology
Magdalena Skora, Mateusz Gajda, Magdalena Namysl, Jerzy Wordliczek, Joanna Zorska, Piotr Piekielko, Barbara Zoltowska, Pawel Krzysciak, Piotr B. Heczko, Jadwiga Wojkowska-Mach
Summary: This study aimed to assess the morbidity of CAPA among ICU patients in Poland and analyze the diagnostic and therapeutic procedures. The study found an incidence rate of 1% and a fatality rate of 76.5% for CAPA. It highlights the importance of increased awareness among medical staff regarding fungal co-infections in ICU patients with COVID-19 and the need for more effective use of available diagnostic and therapeutic tools.
Article
Rehabilitation
Ozden Ozyemisci Taskiran, Zeynep Turan, Suda Tekin, Evren Senturk, Mahir Topaloglu, Fatma Yurdakul, Onder Ergonul, Nahit Cakar
Summary: The study did not find evidence supporting the beneficial effects of early rehabilitation in improving muscle strength for patients with acute respiratory distress syndrome secondary to COVID-19 in intensive care unit. However, it did emphasize the importance of rehabilitation for patients with comorbidities such as chronic pulmonary and neurologic diseases.
EUROPEAN JOURNAL OF PHYSICAL AND REHABILITATION MEDICINE
(2021)
Article
Public, Environmental & Occupational Health
Zhu Zhan, Xin Yang, Hu Du, Chuanlai Zhang, Yuyan Song, Xiaoyun Ran, An Zhang, Mei Yang
Summary: This study in Chongqing, China, analyzed the clinical features, outcomes, and ARDS characteristics of COVID-19 patients in ICU. Most patients developed ARDS during ICU stay, with over half having moderate ARDS. Nearly one-third of ARDS patients showed early improvement, with higher survival rates and shorter ICU stays. Age (<55 years) was independently associated with early improvement, suggesting stratified management based on eiARDS or age is recommended.
JMIR PUBLIC HEALTH AND SURVEILLANCE
(2021)
Article
Immunology
Siyuan Yang, Mingxi Hua, Xinzhe Liu, Chunjing Du, Lin Pu, Pan Xiang, Linghang Wang, Jingyuan Liu
Summary: This study aimed to investigate the frequency and characteristics of respiratory co-infections in COVID-19 patients in the ICU, finding differences in respiratory pathogens between severe and critical groups. The detection of different pathogens varied between early and late ICU admission. The positive rate of fungal serum antigens increased with prolonged ICU stay.
MICROBES AND INFECTION
(2021)
Article
Multidisciplinary Sciences
Chiara Giraudo, Giovanni Librizzi, Giulia Fichera, Raffaella Motta, Elisabetta Balestro, Fiorella Calabrese, Giovanni Carretta, Anna Maria Cattelan, Paolo Navalesi, Michela Pelloso, Mario Plebani, Federico Rea, Roberto Vettor, Andrea Vianello, Roberto Stramare
Summary: Reduced muscle mass assessed by CT may predict ICU hospitalization in COVID-19 patients. Patients admitted to the ICU showed significantly lower Hu values. Patients with muscle loss were generally older, had lower Barthel Index scores, and had higher inflammatory markers.
Article
Infectious Diseases
Alessandro Russo, Francesca Gavaruzzi, Giancarlo Ceccarelli, Cristian Borrazzo, Alessandra Oliva, Francesco Alessandri, Eugenia Magnanimi, Francesco Pugliese, Mario Venditti
Summary: Our study found that COVID-19 patients exhibited higher occurrences of serum lactate levels mmol/l > 2, Acinetobacter baumannii colonization, BSI, and steroid therapy. Cox regression analysis demonstrated that serum lactate levels > 2 mmol/l, Acinetobacter baumannii colonization, BSI, and steroid therapy were associated with 30-day mortality. Additionally, factors independently associated with the development of BSI in COVID-19 patients included white blood cells count > 11,000 mm(3), serum lactate levels > 2 mmol/l, infections at time of ICU admission, Acinetobacter baumannii colonization, and steroid therapy.
Article
Biochemistry & Molecular Biology
Lucia W. J. M. Streng, Calvin J. de Wijs, Nicolaas J. H. Raat, Patricia A. C. Specht, Dimitri Sneiders, Marielle van der Kaaij, Henrik Endeman, Egbert G. Mik, Floor A. Harms
Summary: This study assessed mitochondrial function in COVID-19 patients and found that mitochondrial oxygenation and consumption may be impaired in these patients, suggesting increased metabolism and mitochondrial damage.
Article
Multidisciplinary Sciences
Ayham Daher, Paul Balfanz, Maria Aetou, Bojan Hartmann, Dirk Mueller-Wieland, Tobias Mueller, Nikolaus Marx, Michael Dreher, Christian G. Cornelissen
Summary: Patients with COVID-19 who require supplemental oxygen may not exhibit significant dyspnea despite low oxygen saturation levels. They typically have fever for about a week and require oxygen therapy for about 8 days, with overall hospitalization lasting around 12 days. Systemic inflammation persists in these patients, indicating the need for long-term inpatient care.
SCIENTIFIC REPORTS
(2021)
Article
Infectious Diseases
Rafael Dias, Joao Paulo Caldas, Andre Silva-Pinto, Andreia Costa, Antonio Sarmento, Lurdes Santos
Summary: This study found that there is no association between COVID-19 and a higher prevalence or duration of delirium compared to patients without COVID-19. However, COVID-19 is associated with more severe forms of delirium.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2022)
Article
Respiratory System
Hiroyuki Ohbe, Yusuke Sasabuchi, Masao Iwagami, Takayuki Ogura, Sachiko Ono, Hiroki Matsui, Hideo Yasunaga
Summary: This study compares the outcomes of COVID-19 patients with invasive mechanical ventilation treated in high-dependency care units (HDUs) and intensive care units (ICUs). It suggests that treatment in the ICU may significantly reduce in-hospital mortality within 30 days compared with treatment in the HDU. However, further studies are needed to confirm these findings.
ANNALS OF THE AMERICAN THORACIC SOCIETY
(2023)
Article
Clinical Neurology
Valentina Damato, Claudia Papi, Gregorio Spagni, Amelia Evoli, Gabriella Silvestri, Gianvito Masi, Eleonora Sabatelli, Lucia Campetella, Andrew McKeon, Francesca Andreetta, Vittorio Riso, Gabriele Monte, Marco Luigetti, Guido Primiano, Paolo Calabresi, Raffaele Iorio
Summary: The study evaluated the long-term outcomes of patients with autoimmune cerebellar ataxia, distinguishing between paraneoplastic and non paraneoplastic cases. Neural autoantibodies were detected in a significant portion of patients, with all patients receiving immunotherapy. Patients with paraneoplastic cerebellar syndrome had higher SARA scores compared to idiopathic ACA patients, and those with good outcomes had lower SARA scores.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Gianluca D'Onofrio, Antonella Riva, Gabriella Di Rosa, Elisa Cali, Stephanie Efthymiou, Eloisa Gitto, Francesca Madia, Andrea Accogli, Federico Zara, Henry Houlden, Vincenzo Salpietro, Pasquale Striano, Doriette Soler
Summary: This study reports a case of infantile epileptic encephalopathy and RTT-like disorder associated with a mutation in the GABBR2 gene. The patient, an 11-year-old girl, displayed symptoms of RTT, epilepsy, generalized hypotonia, and paroxysmal limb dystonia. Exome sequencing identified a de novo GABBR2 pathogenic variant in the patient.
BRAIN & DEVELOPMENT
(2022)
Letter
Clinical Neurology
Marcello Scala, Elisa De Grandis, Giulia Nobile, Michele Iacomino, Francesca Madia, Valeria Capra, Lino Nobili, Federico Zara, Pasquale Striano
Article
Clinical Neurology
Chiara Pizzamiglio, Robert D. S. Pitceathly, Michael P. Lunn, Stefen Brady, Fabiola De Marchi, Lucia Galan, Jeannine M. Heckmann, Alejandro Horga, Maria J. Molnar, Acary S. B. Oliveira, Wladimir B. V. R. Pinto, Guido Primiano, Ernestina Santos, Benedikt Schoser, Serenella Servidei, Paulo V. Sgobbi Souza, Vishnu Venugopalan, Michael G. Hanna, Mazen M. Dimachkie, Pedro M. Machado
Summary: Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases (NMDs) include age, race/ethnicity, baseline functional status, comorbidities, history of respiratory dysfunction, obesity, number of comorbidities, glucocorticoid treatment, and Guillain-Barre syndrome.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Correction
Clinical Neurology
Guido Primiano, Eleonora Rollo, Marina Romozzi, Paolo Calabresi, Serenella Servidei, Catello Vollono
NEUROLOGICAL SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Domenico Plantone, Guido Primiano, Carlo Manco, Sara Locci, Serenella Servidei, Nicola De Stefano
Summary: Vitamin D has various effects on the nervous system and its deficiency can increase the risk of developing neurological diseases. Recent studies aim to understand the different outcomes of vitamin D supplementation in progressive neurological diseases. This review provides an overview of vitamin D chemistry, metabolism, mechanisms of action, recommended daily intake, and its role in gene transcription and the immune response. The scientific evidence linking low vitamin D concentrations to severe neurological diseases is discussed, and ongoing clinical trials on vitamin D supplementation in neurological diseases are listed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Pediatrics
Raffaele Falsaperla, Simona Domenica Marino, Giulia Salomone, Francesca Madia, Silvia Marino, Lucia Giovanna Tardino, Bruna Scalia, Martino Ruggieri
Summary: This article describes a case of a 22-month-old female with KCNQ2 encephalopathy who achieved seizure control and neurodevelopmental milestones through ketogenic diet (KD) treatment. The researchers propose KD as a valuable treatment for infants with de novo KCNQ2 gene mutations.
TRANSLATIONAL PEDIATRICS
(2023)
Article
Genetics & Heredity
Federica Saia, Adriana Prato, Lucia Saccuzzo, Francesca Madia, Rita Barone, Marco Fichera, Renata Rizzo
Summary: This study aimed to understand the molecular bases of Tourette syndrome (TS) in a large cohort of pediatric patients. Molecular analyses, including array-CGH analyses, were conducted to identify and compare copy number variations (CNVs) related to neurodevelopment and neuropsychiatric disorders. The study found a higher occurrence of rare deletions and duplications focusing on significant neurodevelopment genes in children with tics and additional comorbidities.
Article
Oncology
Marzia Ognibene, Marcello Scala, Michele Iacomino, Irene Schiavetti, Francesca Madia, Monica Traverso, Sara Guerrisi, Marco Di Duca, Francesco Caroli, Simona Baldassari, Barbara Tappino, Ferruccio Romano, Paolo Uva, Diego Vozzi, Cristina Chelleri, Gianluca Piatelli, Maria Cristina Diana, Federico Zara, Valeria Capra, Marco Pavanello, Patrizia De Marco
Summary: In this study, rare variants of the RNF213 gene were investigated as potential genetic modifiers of Moyamoya syndrome (MMS) phenotype in a pediatric cohort of patients. Next-generation sequencing revealed that RNF213 does not modify the risk of Moyamoya occurrence in MMS patients. Instead, the loss of neurofibromin 1, encoded by the NF1 gene, is likely responsible for the excessive proliferation of vascular smooth muscle cells leading to arterial stenosis. Further studies are needed to confirm these findings and identify other genetic factors in MMS pathogenesis.
Review
Cell Biology
Domenico Plantone, Guido Primiano, Delia Righi, Angela Romano, Marco Luigetti, Nicola De Stefano
Summary: This review summarizes the current evidence supporting the role of the immune response in ATTRv amyloidosis, from the pathological mechanisms to the possible therapeutic implications.
Article
Health Care Sciences & Services
Gabriella Cadoni, Guido Primiano, Pasqualina M. Picciotti, Rosalinda Calandrelli, Jacopo Galli, Serenella Servidei, Guido Conti
Summary: Mitochondrial diseases are genetic disorders characterized by defects in mitochondrial DNA. This study investigated the hearing function and neuroimaging results in adult patients with genetically defined mitochondrial diseases. The results showed that genetic alterations were associated with different clinical presentations in auditory function and neuroradiological findings, and there was no fixed relationship between genotype and phenotype.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Genetics & Heredity
Cristina Chelleri, Marcello Scala, Patrizia De Marco, Vittorio Guerriero, Marzia Ognibene, Francesca Madia, Sara Guerrisi, Marco Di Duca, Michele Torre, Serena Tamburro, Paolo Scudieri, Gianluca Piccolo, Girolamo Mattioli, Francesca Buffelli, Paolo Uva, Diego Vozzi, Ezio Fulcheri, Pasquale Striano, Maria Cristina Diana, Federico Zara
Summary: Through genetic sequencing of a patient with pectus excavatum (PE), a chest deformity, two NF1-related gene mutations were identified, expanding our understanding of the pathophysiological mechanisms underlying NF1-related skeletal features.
Letter
Pediatrics
Andrea Santangelo, Alice Bonuccelli, Maria C. Ragone, Thomas Foiadelli, Salvatore Savasta, Francesca Madia, Diego Peroni, Pasquale Striano
MINERVA PEDIATRICS
(2023)
Article
Biochemistry & Molecular Biology
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Summary: Pompe disease is a genetic disorder caused by mutations in the GAA gene that result in glycogen storage in lysosomes, particularly in muscle tissue. The relationship between genotype and phenotype has been extensively discussed, suggesting that other genetic variants may influence the clinical presentation. In this study, we identified potentially relevant variants in genes related to glycogen synthesis and catabolism in late-onset Pompe disease patients.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
