Article
Multidisciplinary Sciences
Chan-Sik Kim, Jin-Mo Park, Donghwi Park, Doo-Hwan Kim, Jin-Sung Park
Summary: This study aimed to identify risk factors associated with postoperative complications in individuals with myotonic dystrophy type 1 (DM1). The findings suggest that a high-grade muscular impairment rating and postoperative opioid use are significantly associated with postoperative complications.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Vanessa Todorow, Stefan Hintze, Benedikt Schoser, Peter Meinke
Summary: Myotonic dystrophy type 1 is a multisystemic disorder with muscle and neurological involvement. The misregulation of nuclear envelope (NE) proteins, including NE transmembrane proteins (NETs), is associated with the severity of the muscle phenotype in DM1. Misregulation of two NETs alone can account for the differential expression of about 10% of all genes in DM1. These findings demonstrate the importance of muscle NETs and the NE in DM1 disease progression.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Endocrinology & Metabolism
Mai Kiya, Yoshifumi Tamura, Kageumi Takeno, Yuki Someya, Saori Kakehi, Motonori Sato, Nozomu Yamasaki, Satoshi Kadowaki, Ruriko Suzuki, Yasuhiko Furukawa, Daisuke Sugimoto, Hideyoshi Kaga, Takashi Funayama, Miho Nishitani-Yokoyama, Kazunori Shimada, Hiroyuki Daida, Shigeki Aoki, Hiroaki Satoh, Ryuzo Kawamori, Hirotaka Watada
Summary: In nonobese Japanese men, high ATIS group showed no association between AN level and metabolic characteristics, whereas the low ATIS group exhibited reduced muscle insulin sensitivity and multiple metabolic abnormalities such as fatty liver and dyslipidemia.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Clinical Neurology
Manami Hama, Riho Horie, Tomoya Kubota, Tsuyoshi Matsumura, En Kimura, Harumasa Nakamura, Masanori P. Takahashi, Hiroto Takada
Summary: Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults, affecting multiple organs, but metabolic disturbances, such as liver dysfunction, dyslipidemia, and impaired glucose tolerance, are less explored despite their significant prevalence in DM1 patients. More research and management strategies are needed in this area.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Gastroenterology & Hepatology
Luca Miele, Alessia Perna, Marianxhela Dajko, Maria A. Zocco, Antonio De Magistris, Tommaso F. Nicoletti, Marco Biolato, Giuseppe Marrone, Antonio Liguori, Daria Maccora, Venanzio Valenza, Salvatore Rossi, Vittorio Riso, Daniele Di Natale, Antonio Gasbarrini, Antonio Grieco, Gabriella Silvestri
Summary: This study identified a high prevalence of MAFLD in DM1 patients, with features including higher male prevalence, BMI, HOMA score, and GGT levels. DM1-MAFLD individuals also exhibited a more severe form of liver disease compared to non-DM1-MAFLD patients.
DIGESTIVE AND LIVER DISEASE
(2021)
Article
Medicine, General & Internal
Michele Lanza, Rosa Boccia, Adriano Ruggiero, Paolo Melillo, Mario Bifani Sconocchia, Francesca Simonelli, Sandro Sbordone
Summary: The use of a graft thinner than 100 μm can lead to better visual acuity recovery after DSAEK, while recipients with glaucoma or diabetes mellitus are more likely to develop complications post-surgery.
FRONTIERS IN MEDICINE
(2021)
Article
Medicine, General & Internal
Danbi Jo, Yujeong Son, Gwangho Yoon, Juhyun Song, Oh Yoen Kim
Summary: The study revealed a negative correlation between adiposity and circulating adiponectins, while showing irregular patterns in the relationship between adiposity and circulating BDNFs. In vitro experiments demonstrated that adiponectin promotes adipocyte differentiation and browning, while BDNF attenuates these processes.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Environmental Sciences
Tiago Mateus, Filipa Martins, Alexandra Nunes, Maria Teresa Herdeiro, Sandra Rebelo
Summary: Myotonic dystrophy type 1 (DM1) is a hereditary multisystemic disease characterized by muscle weakness and myotonia, with metabolic alterations involving lipin proteins. The metabolic syndrome observed in DM1 patients includes dyslipidemia and abnormal lipid levels, which may be associated with dysregulation of lipin enzymes. Further exploration of lipin proteins as therapeutic targets for metabolic syndrome in DM1 is warranted.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Endocrinology & Metabolism
Agnieszka Zubkiewicz-Kucharska, Beata Wikiera, Anna Noczynska
Summary: This study found significantly lower levels of s-Klotho in children with type 1 diabetes, correlated with HbA1c and HDL cholesterol, but not with adhesion molecule concentrations or the duration of the disease. Negative correlation between the levels of HbA1c and soluble Klotho may suggest its possible involvement in the development of chronic diabetes complications.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Physiology
Wirongrong Wongkitikamjorn, Eiji Wada, Jun Hosomichi, Hideyuki Maeda, Sirichom Satrawaha, Haixin Hong, Ken-ichi Yoshida, Takashi Ono, Yukiko K. Hayashi
Summary: This study aimed to examine the effects of gestational intermittent hypoxia (IH) on the skeletal muscle of adolescent offspring rats. The findings showed that exposure to gestational IH reduced endurance running capacity in the offspring rats. The reduced running capacity was associated with altered energy metabolism, decreased expression of adiponectin receptors, and decreased capillary density in the skeletal muscles of the offspring rats.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Surgery
Zachary M. Bauman, Sophie Cemaj, Neesha Patel, Ashley Raposo-Hadley, Karen Saxton, Charity H. Evans, Brett Waibel, Emily Cantrell
Summary: Comparing trauma patients admitted to trauma units versus non-trauma units, it was found that clustering minorly injured trauma patients on a dedicated unit resulted in reduced costs, decreased complications, and a higher likelihood for patients to be discharged to home.
AMERICAN JOURNAL OF SURGERY
(2022)
Article
Biology
Silvie Franck, Edouard Couvreu De Deckersberg, Jodi L. Bubenik, Christina Markouli, Lise Barbe, Joke Allemeersch, Pierre Hilven, Geoffrey Duque, Maurice S. Swanson, Alexander Gheldof, Claudia Spits, Karen D. Sermon
Summary: This study compared the differentiation potential of DM1 cells and healthy cells in myogenesis using a comprehensive multi-omics approach. The findings showed abnormal myogenesis in DM1 cells, including altered myotube generation. Additionally, aberrant inflammatory response, increased CpG methylation, and RNA mis-splicing were observed in DM1 cells during differentiation.
Article
Chemistry, Medicinal
M. MIURA, S. TANAKA, M. IKEDA, J. KAWAKAM, H. WATANABE, N. NAMIKI, S. UCHIDA
Summary: This study aimed to evaluate the pharmacokinetics and pharmacological effects of glimepiride in the non-obese type 2 diabetes model, Spontaneously Diabetic Torii (SDT) rat. The results showed that the plasma concentrations of glimepiride in SDT rats were significantly higher than those in age-matched Sprague-Dawley rats, while insulin secretion was reduced. Hence, the SDT rat can be considered as a model for type 2 diabetes with reduced insulin secretory capacity.
Article
Clinical Neurology
Daniel Sanchez-Tejerina, Julian Palomino-Doza, Maria Valverde-Gomez, Anibal Ruiz-Curiel, Rafael Salguero-Bodes, Ana Hernandez-Voth, Javier Sayas-Catalan, Cristina Dominguez-Gonzalez
Summary: Myotonic dystrophy type 1 is the most common muscular dystrophy in adults, characterized by multi-systemic involvement and a wide clinical phenotype. The majority of patients exhibit neuromuscular symptoms, with around half developing respiratory failure, which is a major cause of death in these patients. The incidence of cardiac disorders is lower, while complications from falls and thromboembolic events are notable in this population.
REVISTA DE NEUROLOGIA
(2021)
Article
Medicine, Research & Experimental
Ewelina Palkowska-Gozdzik, Katarzyna Piotrowicz, Pawel Krzesinski, Adam Stanczyk, Andrzej Skrobowski, Grzegorz Gielerak
Summary: Adiponectin is associated with cardiometabolic risk factors, anthropometric features, and diet characteristics in obese patients with metabolic syndrome. Higher intake of polyunsaturated fatty acids, including a higher omega-3/omega-6 ratio, may increase adiponectin levels and improve biochemical profiles in patients with metabolic syndrome.
METABOLIC SYNDROME AND RELATED DISORDERS
(2021)
Article
Oncology
Alessandro Testori, Zalman Vaksman, Sharon J. Diskin, Hakon Hakonarson, Mario Capasso, Achille Iolascon, John M. Maris, Marcella Devoto
Summary: Neuroblastoma is less common in African American children, but they more frequently develop the high-risk form of the disease. The study suggests that several common variants contribute to neuroblastoma risk in an ancestry-specific fashion.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2022)
Article
Oncology
Vito Alessandro Lasorsa, Annalaura Montella, Sueva Cantalupo, Matilde Tirelli, Carmen de Torres, Sanja Aveic, Gian Paolo Tonini, Achille Iolascon, Mario Capasso
Summary: This study focuses on noncoding cis-regulatory variants in neuroblastoma and identifies somatic mutations in regulatory elements that play a role in tumorigenesis. The findings highlight the importance of assessing these variants and long-range interactions in understanding the drivers of neuroblastoma.
Article
Biochemistry & Molecular Biology
Lorella Paparo, Maria Antonia Maglio, Maddalena Cortese, Cristina Bruno, Mario Capasso, Erika Punzo, Veronica Ferrucci, Vito Alessandro Lasorsa, Maurizio Viscardi, Giovanna Fusco, Pellegrino Cerino, Alessia Romano, Riccardo Troncone, Massimo Zollo
Summary: FBA, a new butyrate releaser, exerts a preventive action against SARS-CoV-2 infection, which could be considered as an innovative strategy to limit COVID-19.
Article
Biochemistry & Molecular Biology
Fabiana Tortora, Antonella Rendina, Antonella Angiolillo, Alfonso Di Costanzo, Francesco Aniello, Aldo Donizetti, Ferdinando Febbraio, Emilia Vitale
Summary: The CD33 gene is associated with the risk of Alzheimer's disease, with the SNP rs2455069-A>G identified as a potential risk factor for AD. The study suggests that the CD33-R69G variant may increase its affinity for sialic acid by binding to additional binding sites.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Genetics & Heredity
Letteria Anna Morabito, Anna Elsa Maria Allegri, Anna Paola Capra, Mario Capasso, Valeria Capra, Alberto Garaventa, Mohamad Maghnie, Silvana Briuglia, Malgorzata Gabriela Wasniewska
Summary: Osteogenesis imperfecta/Ehlers-Danlos (OI/EDS) overlap syndrome is a clinical entity characterized by features of both osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS). This article reports a case of a young Caucasian girl with severe short stature and a previous history of neuroblastoma, who displayed the compound phenotype of OI/EDS.
Article
Biochemistry & Molecular Biology
Carmen Cerchia, Emanuela Roscetto, Rosarita Nasso, Maria Rosaria Catania, Emmanuele De Vendittis, Antonio Lavecchia, Mariorosario Masullo, Rosario Rullo
Summary: In this study, a virtual screening method was used to discover a novel inhibitor of the microaerophile Streptococcus mutans' superoxide dismutase (SmSOD), which is responsible for dental plaque formation. The compound ALS-31 was found to inhibit SmSOD and other SODs, affecting their catalytic activity. In addition, ALS-31 was shown to inhibit planktonic growth and biofilm formation of S. mutans cultures. A derivative of ALS-31, ALS-31-9, exhibited improved inhibition power. This research provides insights for future drug design studies to combat dental caries.
Article
Sport Sciences
Ausilia Elce, Aurora Daniele, Ilaria Loperto, Lucia De Coppi, Armando Sangiorgio, Angelina Vivona, Clorinda Sorrentino, Simona Iannaccone, Lucia Martiniello, Ersilia Nigro
Summary: This study aimed to observe the effects of lockdown on sleep and anxiety in trained non-professional subjects and professional athletes. The findings revealed that the lockdown due to the COVID-19 pandemic had a similar impact on anxiety and sleep disturbances in both groups, partially mitigating the known beneficial effects of physical activity on mental health and sleep quality.
Article
Nutrition & Dietetics
Giovanni Fiorilli, Andrea Buonsenso, Marco Centorbi, Giuseppe Calcagno, Enzo Iuliano, Antonella Angiolillo, Santina Ciccotelli, Alessandra di Cagno, Alfonso Di Costanzo
Summary: This study demonstrates that engaging in moderate-to-high intensity physical activity helps older adults maintain a good quality of life perception, nutritional status, and daily life activities.
Article
Biochemistry & Molecular Biology
Fabio Pastorino, Mario Capasso, Chiara Brignole, Serena Giglio, Veronica Bensa, Sueva Cantalupo, Vito Alessandro Lasorsa, Annalisa Tondo, Rossella Mura, Angela Rita Sementa, Alberto Garaventa, Mirco Ponzoni, Loredana Amoroso
Summary: Neuroblastoma is the most common extracranial solid tumor in childhood. The prognosis for patients with metastatic relapse or refractory disease is poor. The integration of genome sequencing into standard clinical practice is necessary for personalized therapy. In this study, whole exome sequencing was performed on two patients with relapsed NB, and actionable genetic variations were identified and treated accordingly. The results demonstrate the feasibility of incorporating clinical WES into pediatric oncology practice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D'Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo
Summary: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple organs. This study presents clinical and genetic findings of a patient with CdLS type 4, a syndrome that has been rarely described before. The patient exhibited previously reported clinical features of CdLS type 4 as well as additional symptoms not mentioned previously. The novel genetic variant found in this patient suggests its pathogenicity. This report provides valuable insights for counseling future CdLS type 4 cases.
Article
Oncology
Fabio Pastorino, Mario Capasso, Chiara Brignole, Vito A. Lasorsa, Veronica Bensa, Patrizia Perri, Sueva Cantalupo, Serena Giglio, Massimo Provenzi, Marco Rabusin, Elvira Pota, Monica Cellini, Annalisa Tondo, Maria A. De Ioris, Angela R. Sementa, Alberto Garaventa, Mirco Ponzoni, Loredana Amoroso
Summary: Approximately 50% of high-risk neuroblastomas (NB) relapse within two years after treatment, and additional therapeutic options are needed for relapsed or refractory patients. The identification of ALK somatic mutations or amplification is crucial for the treatment of these patients. ALK inhibitors may have a significant role in treating high-risk, ALK-mutated NB patients in the era of precision medicine.
Article
Biochemistry & Molecular Biology
Pierluigi Reveglia, Carmela Paolillo, Antonella Angiolillo, Gabriella Ferretti, Ruggero Angelico, Rossana Sirabella, Gaetano Corso, Carmela Matrone, Alfonso Di Costanzo
Summary: Alzheimer's disease is the most common cause of dementia in the elderly population. It not only affects the brain, but also disturbs the overall metabolism of the body. Analysis of blood samples from patients with AD revealed significant dysregulation of metabolites, including upregulation of glycerophospholipids and ceramide, and downregulation of glutamic acid, other phospholipids, and sphingolipids. Pathway analysis showed that at least five metabolic pathways related to polar compounds were dysregulated in AD patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Daniele Pirone, Annalaura Montella, Daniele G. Sirico, Martina Mugnano, Massimiliano M. Villone, Vittorio Bianco, Lisa Miccio, Anna Maria Porcelli, Ivana Kurelac, Mario Capasso, Achille Iolascon, Pier Luca Maffettone, Pasquale Memmolo, Pietro Ferraro
Summary: In this study, we introduce a machine learning-powered tomographic phase imaging flow cytometry system that can provide high-throughput 3D phase-contrast tomograms of individual cells for the identification of circulating tumor cells in microfluidic cytometry condition. We propose a hierarchical machine learning decision-maker that utilizes 3D morphological features calculated from the cells' refractive index to accurately discriminate tumor cells from white blood cells as well as identify the tumor type. Experimental results demonstrate a success rate of over 97% in identifying tumor cells and an accuracy of over 97% in discriminating between different cancer cell types, highlighting the potential of this stain-free liquid biopsy tool for detecting and classifying circulating tumor cells in blood.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Rosario Rullo, Carmen Cerchia, Rosarita Nasso, Virgilio Romanelli, Emmanuele De Vendittis, Mariorosario Masullo, Antonio Lavecchia
Summary: Xanthine oxidase (XO) is a flavoprotein that plays a crucial role in the oxidation of hypoxanthine to uric acid. Abnormal functions of XO can lead to severe diseases, such as gout-causing hyperuricemia and tissue damage. In this study, we identified four non-purine-like compounds (ALS-1, -8, -15, and -28) that directly inhibit XO activity. Among them, ALS-28 showed the highest potency as an inhibitor. These structurally unrelated compounds have the potential to be further developed into lead compounds.
Review
Nutrition & Dietetics
Ersilia Nigro, Vito D'Agnano, Gianluca Quarcio, Domenica Francesca Mariniello, Andrea Bianco, Aurora Daniele, Fabio Perrotta
Summary: Adipose tissue is not only a store of energy but also an endocrine organ. Obesity has been identified as a major risk factor for severe COVID-19 outcomes, likely due to the abnormal production of adipokines that can cause metabolic alterations, vascular endothelium dysfunction, and chronic inflammation. Understanding the link between obesity and COVID-19 severity can greatly contribute to the development of effective therapeutic strategies.