Article
Hematology
Shan Li, Ping Guo, Leyuan Mi, Xiaojing Chai, Kewang Xi, Ting Liu, Li Lu, Juan Li
Summary: In this study, a novel mutation of the SPTB gene was identified in a Chinese family with hereditary spherocytosis, and its pathogenicity and pathogenesis were investigated. The mutation disrupted the synthesis and interaction of proteins, leading to abnormal red cell morphology and hemolytic anemia.
ANNALS OF HEMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Dzamila M. Boguslawska, Michal Skulski, Beata Machnicka, Stanislaw Potoczek, Sebastian Kraszewski, Kazimierz Kuliczkowski, Aleksander F. Sikorski
Summary: Hereditary spherocytosis (HS) is the most commonly inherited hemolytic anemia in northern Europeans, with a new mutation identified through whole exome sequencing. Analysis of 71 genes associated with erythrocyte pathologies revealed only one SPTB gene variant that may be the molecular mechanism behind the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Joan-Lluis Vives Corrons, Elena Krishnevskaya, Laura Montllor, Valentina Leguizamon, Marta Garcia Bernal
Summary: This family study revealed that the mutation in the beta-spectrin gene may be the main cause of chronic hemolytic anemia, while the pyruvate kinase mutation may not be a significant factor.
Article
Genetics & Heredity
Junjie Fan, Lilan Yao, Daru Lu, Yanhua Yao, Yina Sun, Yafei Tian, Li Mou, Linbo Chen, Letian Zhao, Shenglong Qiao, Shaoyan Hu, Yijian Zhu
Summary: This study included 11 Chinese pediatric patients with newly detected SPTB gene mutations, which expanded the mutant spectrum of the gene and laid a foundation for further research on hereditary spherocytosis in the Chinese population, especially in pediatric patients.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Biology
Beata Machnicka, Aleksander Czogalla, Dzamila M. Boguslawska, Piotr Stasiak, Aleksander F. F. Sikorski
Summary: A new missense mutation in the ANK1 gene associated with hereditary spherocytosis phenotype is reported. This mutation, L1340P substitution, affects the conformation of the ankyrin ZZUD domain important for ankyrin binding to spectrin. The study shows the impact of this mutation on protein binding activity and cell morphology.
Review
Medical Laboratory Technology
Shan Li, Ting Liu, Kejing Li, Xinyi Bai, Kewang Xi, Xiaojing Chai, Leyuan Mi, Juan Li
Summary: Spectrin is a major component of the plasma membrane-associated cytoskeleton, responsible for maintaining cell membrane integrity and regulating various cellular processes. Dysfunction of spectrins is associated with a range of human diseases, and understanding their function and molecular mechanisms is important for therapeutic interventions.
TRANSLATIONAL RESEARCH
(2022)
Article
Biology
Sharon R. Stevens, Colleen M. Longley, Yuki Ogawa, Lindsay H. Teliska, Anithachristy S. Arumanayagam, Supna Nair, Juan A. Oses-Prieto, Alma L. Burlingame, Matthew D. Cykowski, Mingshan Xue, Matthew N. Rasband
Summary: AnkR is highly enriched in Pv(+) fast-spiking interneurons in mice and humans, and is associated with cytoskeletal proteins, cell adhesion molecules (CAMs), and perineuronal nets (PNNs). Loss of AnkR leads to disruption of PNNs, decreases in anxiety-like behaviors, and changes in the excitability and firing properties of Pv(+) fast-spiking interneurons, which is accompanied by a reduction in Kv3.1b K+ channels. AnkR plays a crucial role in organizing ion channels, CAMs, and PNNs in interneurons and at nodes of Ranvier.
Article
Hematology
Cristina Vercellati, Anna Zaninoni, Anna P. Marcello, Elisa Fermo, Bruno Fattizzo, Juri A. Giannotta, Paola Bianchi, Alberto Zanella, Wilma Barcellini
Summary: This study describes the clinical and hematological characteristics of 446 patients with hereditary spherocytosis diagnosed in a reference center over the past 40 years. The frequency of splenectomy has decreased over time, possibly due to an increasing awareness of the risks of thrombosis and infection after splenectomy.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Genetics & Heredity
Chongjun Wu, Ting Xiong, Zhongjin Xu, Chunlei Zhan, Feng Chen, Yao Ye, Hong Wang, Yu Yang
Summary: This study investigated the clinical and genetic characteristics of hereditary spherocythemia (HS) in Chinese children, identifying unique genetic and clinical features and analyzing genotype-phenotype associations. The results showed that patients with ANK1 mutations had more severe anemia than those with SPTB mutations, highlighting the need for further research with larger sample sizes to explore the correlation between genotype and phenotype.
FRONTIERS IN GENETICS
(2021)
Article
Neurosciences
Sharon R. Stevens, Matthew N. Rasband
Summary: Ankyrins are scaffolding proteins in the nervous system that recruit and stabilize various membrane proteins involved in neuronal signaling. Mutations in ankyrins are associated with neurological disorders, primarily affecting neuronal excitability and connectivity.
CURRENT OPINION IN NEUROBIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Linlin Xu, Xiaofeng Wei, Guanxia Liang, Dina Zhu, Yanxia Zhang, Yang Zhang, Xuan Shang
Summary: A novel mutation in the ANK1 gene was found to be associated with hereditary spherocytosis (HS), and the phenotypic difference between father and son may be attributed to the lower expression of the mutant allele. This study has important implications for improving the clinical diagnosis and genetic counseling of HS.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2023)
Article
Pediatrics
Timothy M. Bahr, Julie H. Shakib, Carole H. Stipelman, Kensaku Kawamoto, Sarah Lauer, Robert D. Christensen
Summary: The study examined the association between end-tidal carbon monoxide concentration (ETCOc) measurements and outcomes related to phototherapy management in newborns. Higher ETCOc values were linked to earlier initiation and longer duration of phototherapy. Some newborns required hospital readmission for intensive phototherapy due to severe hyperbilirubinemia.
JOURNAL OF PEDIATRICS
(2021)
Review
Pharmacology & Pharmacy
Dong Wang, Li Song, Li Shen, Kaihui Zhang, Yuqiang Lv, Min Gao, Jian Ma, Ya Wan, Zhongtao Gai, Yi Liu
Summary: This study identified ANK1 and SPTB as the most frequently mutated genes in Chinese patients with HS, with higher mutation frequency of ANK1 in specific exons. Missense mutations were more common in SLC4A1, while most mutations in ANK1 and SPTB were nonsense or frameshift mutations. The study expanded the mutation spectrum of ANK1 and SPTB, providing insights into the mutational characteristics of causative genes in Chinese HS patients.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Pediatrics
Maria Paola Boaro, Giulia Reggiani, Mirco D'Agnolo, Vania Munaretto, Francesco Pozzebon, Roberta Trapanese, Maddalena Martella, Raffaella Colombatti
Summary: This study aimed to evaluate the diagnostic pathway of HS and the management of hepatobiliary complications in pediatric patients with HS followed in a tertiary care center. The demographic, clinical, and hematological information were retrieved from medical records of patients having at least 1 hematology visit between 2010 and 2020.
FRONTIERS IN PEDIATRICS
(2023)
Review
Medicine, General & Internal
Yu-Hung Shih, Ying-Chih Huang, Ching-Yeh Lin, Hsuan-Yu Lin, Su-Feng Kuo, Jen-Shiou Lin, Ming-Ching Shen
Summary: This article reported two families in Taiwan with hereditary red blood cell membrane disorders, one with hereditary spherocytosis and the other with hereditary elliptocytosis. Both patients had compensated anemia, but their daily activities were normal with clinical follow-up instead of splenectomy. These studies indicated that these two diseases are often underdiagnosed or misdiagnosed clinically.
Editorial Material
Hematology
Immacolata Andolfo, Seth L. Alper, Achille Iolascon
AMERICAN JOURNAL OF HEMATOLOGY
(2022)
Article
Hematology
Alessandra Di Paola, Giuseppe Palumbo, Chiara Tortora, Maura Argenziano, Marialuigia Catanoso, Caterina Di Leva, Giulia Ceglie, Silverio Perrotta, Franco Locatelli, Francesca Rossi
Summary: ITP is an autoimmune disease characterized by platelet destruction, while MSCs play a crucial role in modulating immune and inflammatory processes. ELT, a thrombopoietin receptor agonist, can restore and promote the activity of ITP-MSCs by modulating iron metabolism, exhibiting immunomodulating properties.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Genetics & Heredity
Stefania Mantovani, Sergio Daga, Chiara Fallerini, Margherita Baldassarri, Elisa Benetti, Nicola Picchiotti, Francesca Fava, Anna Galli, Silvia Zibellini, Mirella Bruttini, Maria Palmieri, Susanna Croci, Sara Amitrano, Diana Alaverdian, Katia Capitani, Simone Furini, Francesca Mari, Ilaria Meloni, Elisa Frullanti, Mario U. Mondelli, Alessandra Renieri
Summary: TLR7 variants in male patients lead to impaired immune response to viruses like SARS-CoV-2, resulting in severe COVID-19. These variants cause significant damage to the TLR7 signaling pathway and hinder the type I and II interferon responses.
GENES AND IMMUNITY
(2022)
Article
Genetics & Heredity
Chiara Fallerini, Nicola Picchiotti, Margherita Baldassarri, Kristina Zguro, Sergio Daga, Francesca Fava, Elisa Benetti, Sara Amitrano, Mirella Bruttini, Maria Palmieril, Susanna Croci, Mirjam Lista, Giada Beligni, Floriana Valentino, Ilaria Meloni, Marco Tanfoni, Francesca Minnai, Francesca Colombo, Enrico Cabri, Maddalena Fratelli, Chiara Gabbi, Stefania Mantovani, Elisa Frullanti, Marco Gori, Francis P. Crawley, Guillaume Butler-Laporte, Brent Richards, Hugo Zeberg, Miklos Lipcsey, Michael Hultstrom, Kerstin U. Ludwig, Eva C. Schulte, Erola Pairo-Castineira, John Kenneth Baillie, Axel Schmidt, Robert Frithiof, Francesca Mari, Alessandra Renieri, Simone Furini
Summary: The study developed a machine-learning model using common and rare exonic variants to predict COVID-19 severity. By selecting key Boolean features and combining them into an Integrated PolyGenic Score, the model offers insights into the genetic contribution to disease severity. A quarter of the selected genes are sex-specific, and pathway analysis highlighted the multi-organ nature of COVID-19 severity. This model could potentially aid in diagnostics, therapeutics, and disease management at the bedside.
Article
Gastroenterology & Hepatology
Chiara Tortora, Alessandra Di Paola, Mara Creoli, Maura Argenziano, Massimo Martinelli, Erasmo Miele, Francesca Rossi, Caterina Strisciuglio
Summary: By studying the roles of CB2 and TRPV1 receptors in pediatric IBD-related osteoporosis, it was found that their stimulation can reduce OC overactivity induced by iron, providing new insights into the pathogenesis of bone resorption associated with IBD.
INFLAMMATORY BOWEL DISEASES
(2022)
Article
Oncology
Alberto Garaventa, Stefano Parodi, Giulia Guerrini, Piero Farruggia, Alessandra Sala, Marta Pillon, Salvatore Buffardi, Francesca Rossi, Maurizio Bianchi, Marco Zecca, Luciana Vinti, Elena Facchini, Tommaso Casini, Sayla Bernasconi, Loredana Amoroso, Salvatore D'Amico, Massimo Provenzi, Raffaela De Santis, Antonella Sau, Paola Muggeo, Rosa Maria Mura, Riccardo Haupt, Maurizio Mascarin, Roberta Burnelli
Summary: The study focused on identifying prognostic factors and tailoring salvage therapy for children and adolescents with relapsed or progressive classical Hodgkin's lymphoma. Over a 10-year follow-up period, the overall survival was 65.3% and the event-free survival was 53.3%. Progressive disease, advanced stage, and ≥5 involved sites were associated with significantly poorer outcomes.
Article
Biochemistry & Molecular Biology
Chiara Tortora, Alessandra Di Paola, Maura Argenziano, Mara Creoli, Maria Maddalena Marrapodi, Sabrina Cenni, Carlo Tolone, Francesca Rossi, Caterina Strisciuglio
Summary: Celiac Disease is an autoimmune disease triggered by gluten exposure, and recent studies have shown the involvement of macrophages in its pathogenesis. The Cannabinoid Receptor 2 (CB2) could be a potential therapeutic target for Celiac Disease by regulating macrophage polarization and preventing mucosal barrier damage.
Article
Pediatrics
Caterina Strisciuglio, Mara Creoli, Chiara Tortora, Massimo Martinelli, Erasmo Miele, Salvatore Paino, Livio Luongo, Francesca Rossi
Summary: This study analyzed the expression of CB2 and factors associated with IBD inflammatory pathways in intestinal biopsies of pediatric CD and UC patients. The results showed an upregulation of CB2 in pediatric IBD, which could have implications for drug discovery.
PEDIATRIC RESEARCH
(2023)
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
Hematology
Immacolata Andolfo, Vittoria Monaco, Flora Cozzolino, Barbara Eleni Rosato, Roberta Marra, Vincenza Cerbone, Valeria Maria Pinto, Gian Luca Forni, Sule Unal, Achille Iolascon, Maria Monti, Roberta Russo
Letter
Hematology
Valeria Maria Pinto, Roberta Russo, Sabrina Quintino, Barbara Eleni Rosato, Roberta Marra, Federica Del Giudice, Massimo Mogni, Massimo Maffei, Achille Iolascon, Gian Luca Forni, Immacolata Andolfo
Summary: This study provides an overview of the workflow and includes some examples of the achieved results.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Maura Argenziano, Vincenzo Pota, Alessandra Di Paola, Chiara Tortora, Maria Maddalena Marrapodi, Giulia Giliberti, Domenico Roberti, Maria Caterina Pace, Francesca Rossi
Summary: Duchenne Muscular Dystrophy (DMD) is a severe disease caused by a mutation in the DMD gene, leading to muscular degeneration and secondary complications. The main therapy for DMD is corticosteroids, but the side effects call for safer alternatives. Macrophages, immune cells expressing the CB2 receptor, have been suggested as a target for anti-inflammatory treatment. In this study, the CB2 receptor agonist JWH-133 was found to have a beneficial effect by reducing pro-inflammatory cytokines and promoting anti-inflammatory macrophage phenotype in DMD-associated macrophages.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Alessandro De Falco, Achille Iolascon, Flora Ascione, Carmelo Piscopo
Summary: The use of array comparative genomic hybridization (array-CGH) has identified new microdeletion/microduplication syndromes, including the 9q21.13 microdeletion syndrome. This syndrome involves the loss of a specific genomic region and is associated with developmental delay, intellectual disability, autistic behavior, seizures, facial dysmorphism, myopia, and previously unreported brain anomalies. A study of 28 patients, including our case, allowed for the classification and analysis of candidate genes, as well as the correlation between genotype and phenotype. These findings provide a better understanding of the syndromic spectrum of 9q21.13 microdeletion syndrome and suggest the need for regular ophthalmological and neurological monitoring.
Review
Oncology
Cristina Peduto, Mariateresa Zanobio, Vincenzo Nigro, Silverio Perrotta, Giulio Piluso, Claudia Santoro
Summary: In recent years, there has been an increase in the description of genotype-phenotype correlations for neurofibromatosis type 1 (NF1), which affects the clinical follow-up of patients, especially children. The use of molecular diagnosis, facilitated by next generation sequencing technology, allows for early confirmation of clinical diagnosis, even in cases with atypical presentation or overlapping conditions. This article reviews the main clinical characteristics and complications of NF1, particularly in children, and discusses the genotype-phenotype associations that impact genetic counseling and prognosis. Molecular diagnosis is crucial for confirming clinical diagnoses, especially with recently revised diagnostic criteria, and for early identification of genotypes associated with specific phenotypes.
Article
Pediatrics
Nicola Davide Cavallo, Gianpaolo Maggi, Francesco Ferraiuolo, Anna Sorrentino, Silverio Perrotta, Marco Carotenuto, Gabriella Santangelo, Claudia Santoro
Summary: This study examined the prevalence of bullying/cyberbullying behaviors and victimization behaviors in children and adolescents with NF1. The findings show that victimization behaviors were more common than bullying/cyberbullying ones. Participants also reported depressive and anxiety symptoms, reduced self-esteem, and low psychosocial quality of life, with females experiencing more severe effects. Reduced self-esteem was associated with more visible NF1 symptoms, and victimization behaviors mediated the relationship between anxiety and psychosocial quality of life. These results highlight the importance of a multidisciplinary approach in the diagnosis and treatment of NF1.
