Article
Agriculture, Dairy & Animal Science
Harshit Kumar, Manjit Panigrahi, K. A. Saravanan, Divya Rajawat, Subhashree Parida, Bharat Bhushan, G. K. Gaur, Triveni Dutt, B. P. Mishra, R. K. Singh
Summary: This study used the Illumina BovineSNP 50 K BeadChip to detect copy number variations (CNVs) in the Tharparkar cattle genome and identified 447 CNV regions. These findings provide crucial information for a better understanding of the indigenous cattle genome.
ANIMAL BIOTECHNOLOGY
(2023)
Article
Genetics & Heredity
Jin Ok Yang, Min-Hyuk Choi, Ji-Yong Yoon, Jeong-Ju Lee, Sang Ook Nam, Soo Young Jun, Hyeok Hee Kwon, Sohyun Yun, Su-Jin Jeon, Iksu Byeon, Debasish Halder, Juhyun Kong, Byungwook Lee, Jeehun Lee, Joon-Won Kang, Nam-Soon Kim
Summary: Lennox-Gastaut syndrome (LGS) is a severe type of childhood-onset epilepsy that often does not respond well to drug treatment. A study identified 14 mutations in 14 genes as possible causes of LGS or similar epilepsy, with most of these genes related to neuronal signal transmission or development. Knockdown of two candidate genes, SLC25A39 and TBC1D8, showed effects on neurite outgrowth and expression of a neuronal marker, suggesting their potential roles in LGS pathology.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Justyna Paprocka, Szymon Zietkiewicz, Joanna Kosinska, Ewa Kaczorowska, Rafal Ploski
Summary: SH3 and multiple ankyrin repeat domains (SHANKs) are essential scaffolding proteins in excitatory synapses. While SHANK3 defects are known to cause neurodevelopmental disorders, including autism and epilepsy, less is known about the disease associations of SHANK1. A novel variant in SHANK1 was identified as the monogenic cause of intellectual disability, autism, and refractory epilepsy in a patient, with significant improvement seen in epilepsy with cannabidiol therapy. Computational analyses revealed the deleterious effect of the SHANK1 variant on protein structure, disrupting a conserved region and potentially impacting protein-protein interactions.
FRONTIERS IN GENETICS
(2021)
Editorial Material
Medicine, General & Internal
Georgeta Cardos, Nicolae Gica, Corina Gica, Anca Maria Panaitescu, Mariana Predescu, Gheorghe Peltecu, Florina Mihaela Nedelea
Summary: MCA, using DNA microarray technology, is a valuable method for diagnosing pathogenic genomic imbalances in patients with MCM, DD/ID, and ASD, with a higher resolution than the traditional G-banded karyotyping.
Article
Clinical Neurology
Ji-Hoon Na, Da Eun Jung, Hee Jung Kang, Hoon-Chul Kang, Heung Dong Kim
Summary: This study evaluates the long-term seizure-free and neurodevelopmental outcomes of stepwise multimodal treatment in patients with Lennox-Gastaut syndrome (LGS), and finds that the active combination of multiple antiseizure medications, dietary therapy, and surgical treatment can provide long-term seizure-free outcomes and significant neurological benefits to patients with LGS.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2022)
Article
Medicine, General & Internal
Giovanni Falcicchio, Simona Lattanzi, Francesco Negri, Marina de Tommaso, Angela La Neve, Nicola Specchio
Summary: This retrospective study examined the 12-month effectiveness and tolerability of Cenobamate (CNB) in patients with Lennox-Gastaut syndrome (LGS) in real-world practice. The results showed a reduction in seizure frequency and minimal side effects after CNB treatment. These findings suggest that CNB may be a promising therapeutic option for drug-resistant epilepsy associated with LGS.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Pediatrics
Yang Tian, Zhen Shi, Chi Hou, Wenjuan Li, Xiuying Wang, Haixia Zhu, Xiaojing Li, Wen-Xiong Chen
Summary: We presented the first Chinese case of Lennox-Gastaut syndrome (LGS) associated with a novel de novo nonsense mutation c.4321C > T(p.Gln1441Ter) in the TANC2 gene, expanding the clinical spectrum related to TANC2 mutations and enhancing understanding of the genotype-phenotype relationship for precision medicine.
Article
Pharmacology & Pharmacy
Manuela Contin, Susan Mohamed, Margherita Santucci, Monica Anna Maria Lodi, Emilio Russo, Oriano Mecarelli
Summary: This study explored the clinical pharmacokinetics of cannabidiol (CBD) in patients with Dravet and Lennox-Gastaut syndrome, revealing higher CBD C/D in adults and the potential need for reduced weight-normalized doses with aging to achieve the same CBD plasma levels.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Psychology, Developmental
Jordan Wickstrom, Cristan Farmer, LeeAnne Green Snyder, Andrew R. Mitz, Stephan J. Sanders, Somer Bishop, Audrey Thurm
Summary: This study analyzed the distribution of ages of attainment of gross motor and expressive language milestones in several rare genetic conditions associated with autism spectrum disorder. The results showed extensive delays in developmental milestone profiles of probands with genetic conditions, particularly in motor skills. The study also found that delays were more frequent and severe in genetic conditions compared to idiopathic ASD, indicating different developmental pathways leading to ASD-associated phenotypes.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2021)
Review
Nutrition & Dietetics
Urszula Skrobas, Piotr Duda, Lukasz Brylinski, Paulina Drozak, Magdalena Pelczar, Konrad Rejdak
Summary: Epilepsy is a global medical problem with a significant number of patients. Ketogenic dietary therapies have shown efficacy and safety in reducing seizures, especially in patients with Lennox-Gastaut syndrome (LGS).
Article
Medical Laboratory Technology
Nian Liu, Hui Li, Manman Li, Yanduo Gao, Hong Yan
Summary: This study retrospectively analyzed a series of cases from a single tertiary referral center that performed prenatal single nucleotide polymorphism (SNP) array testing from April 2017 to December 2021. A total of 30 fetuses carrying 16p11.2 copy number variations (CNVs) were identified. The results showed that 16p11.2 CNVs have variable prenatal phenotypes and are frequently inherited from parents with a milder or normal phenotype.
CLINICA CHIMICA ACTA
(2023)
Article
Clinical Neurology
Ozlem Akman, Stephen W. Briggs, Wenzhu B. Mowrey, Solomon L. Moshe, Aristea S. Galanopoulou
Summary: Infantile spasms may progress into persistent epilepsies like Lennox-Gastaut syndrome. This study found that pulse-rapamycin treatment can reduce the occurrence of motor-type seizures in adult rats with infantile spasms. Additionally, structural corticohippocampal/basal ganglia lesions increase the risk of post-infantile spasms epilepsy and sleep dysregulation.
Article
Medicine, Research & Experimental
Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Shiyi Xu, Xianguo Fu, Liangpu Xu, Hailong Huang
Summary: In this study, the genetic associations and pregnancy outcomes of fetal growth restriction (FGR) were investigated using karyotype analysis and single nucleotide polymorphism arrays (SNP-array). The results showed a significant difference in the detection rate of pathogenic copy number variation (CNV) between the two methods. Additionally, there were significant differences in the detection rate of pathogenic CNVs among different types of FGR. Follow-up results indicated that early diagnosis and genomic testing for FGR can aid in perinatal prognosis and intervention.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Article
Clinical Neurology
Ali A. Asadi-Pooya, Mehdi Bazrafshan, Mohsen Farazdaghi
Summary: The study identified three distinct clusters of patients with LGS using Two-Step cluster analysis, showing significant differences in seizure outcomes between these clusters.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2021)
Article
Clinical Neurology
Qingzhu Liu, Nan Wu, Chang Liu, Hao Yu, Yu Sun, Yao Wang, Guojing Yu, Shuang Wang, Taoyun Ji, Xiaoyan Liu, Yuwu Jiang, Lixin Cai
Summary: This study retrospectively analyzed the surgical outcomes of four pediatric patients with Lennox-Gastaut syndrome (LGS) secondary to viral encephalitis who underwent surgery at the pediatric epilepsy center of Peking University First Hospital from January 2014 to December 2019. Preoperative evaluations included a detailed history, long-term video electroencephalography, brain magnetic resonance imaging, positron emission tomography, and a neuropsychological test. The surgical outcome was evaluated according to the Engel classification, and the results showed that suitable surgical candidacy and approaches have a significant impact on the prognosis of patients with LGS secondary to viral encephalitis.
FRONTIERS IN NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Tommaso Colangelo, Annalucia Carbone, Francesco Mazzarelli, Roberto Cuttano, Elisa Dama, Teresa Nittoli, Jacopo Albanesi, Giovannina Barisciano, Nicola Forte, Orazio Palumbo, Paolo Graziano, Alessandra di Masi, Vittorio Colantuoni, Lina Sabatino, Fabrizio Bianchi, Gianluigi Mazzoccoli
Summary: The study reveals the functional role of the circadian gene Timeless (TIM) in colorectal cancer (CRC). Loss of TIM expression is associated with cancer development, metastasis, and accumulation of DNA damage. The unedited TIM-ZEB1 axis is involved in malignant phenotype acquisition in colorectal carcinogenesis, and TIM-ZEB1 expression profiling could serve as a prognostic biomarker in CRC.
CELL DEATH AND DIFFERENTIATION
(2022)
Article
Genetics & Heredity
Lucia Micale, Silvia Morlino, Annalucia Carbone, Annamaria Carissimo, Grazia Nardella, Carmela Fusco, Orazio Palumbo, Annalisa Schirizzi, Federica Russo, Gianluigi Mazzoccoli, Jeroen Breckpot, Chiara De Luca, Alessandro Ferraris, Cecilia Giunta, Paola Grammatico, Maria K. Haanpaa, Giorgia Mancano, Giulia Forzano, Davide Cacchiarelli, Hilde Van Esch, Bert Callewaert, Marianne Rohrbach, Marco Castori
Summary: This study describes a multisystem disorder caused by heterozygous loss-of-function variants in the TAB2 gene, involving cardiovascular, facial, musculoskeletal, and cutaneous anomalies.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Luigia Cinque, Lucia Micale, Elena Manara, Andrea Esposito, Orazio Palumbo, Andrea Maria Chiariello, Simona Bianco, Giulia Guerri, Matteo Bertelli, Maria Grazia Giuffrida, Laura Bernardini, Angelantonio Notarangelo, Mario Nicodemi, Marco Castori
Summary: Cooks syndrome is an ultra-rare limb malformation caused by tandem microduplications involving KCNJ2 and SOX9. A unique case associated with a de novo translocation affecting the KCNJ2 locus was reported, suggesting a complex rearrangement in this region may mimic the developmental consequences of in tandem duplications affecting the SOX9-KCNJ2 locus.
Article
Oncology
Nadia Trivieri, Alberto Visioli, Gandino Mencarelli, Maria Grazia Cariglia, Laura Marongiu, Riccardo Pracella, Fabrizio Giani, Amata Amy Soriano, Chiara Barile, Laura Cajola, Massimiliano Copetti, Orazio Palumbo, Federico Legnani, Francesco DiMeco, Leonardo Gorgoglione, Angelo L. Vescovi, Elena Binda
Summary: In this study, we identified a subset of self-activating stem cells in high-grade gliomas that are capable of activating regulatory growth signaling. These self-activating stem cells possess distinct functional and molecular features compared to their growth factor-dependent counterparts. Regardless of the GBM subtype, these self-activating stem cells exhibit higher tumorigenic potential and their transcriptomic fingerprints reflect the original tumor, suggesting their potential as diagnostic and therapeutic markers. Additionally, we found that inhibiting two key regulators, Wnt5a and EphA2, can attenuate the tumorigenic and invasive abilities of these stem cells, leading to improved survival.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2022)
Review
Clinical Neurology
Sara Gasparini, Sabrina Neri, Francesco Brigo, Vittoria Cianci, Anna Mammi, Angelo Pascarella, Lucia Manzo, Paolo Benna, Pasquale Striano, Tommaso Martino, Michele Romoli, Lorenzo Muccioli, Annacarmen Nilo, Mariarosaria Valente, Claudia Cagnetti, Angelo Labate, Antonio Gambardella, Francesco Pisani, Sara Casciato, Giancarlo Di Gennaro, Vincenzo Belcastro, Umberto Aguglia, Edoardo Ferlazzo
Summary: This study systematically reviewed the risk factors for CVT-LS and found that symptomatic seizures, stupor/coma, focal neurologic signs, hemorrhagic component, and superior sagittal sinus involvement were the most relevant predictors of CVT-LS.
NEUROLOGICAL SCIENCES
(2022)
Review
Cell Biology
Eleonora Russo, Giulio Russo, Mauro Cassese, Maurizio Braccio, Massimo Carella, Paolo Compagnucci, Antonio Dello Russo, Michela Casella
Summary: Functional mitral regurgitation (FMR) is caused by alterations in the left ventricle and left atrium geometry, resulting in an imbalance between closing and tethering forces. FMR affects quality of life and increases mortality, and there is no clear treatment approach. Left ventricle dyssynchrony may contribute to the onset and worsening of FMR, and is an important target for treatment.
Letter
Genetics & Heredity
Giovanni Innella, Emanuela Scarano, Pietro Palumbo, Massimo Carella, Giulia Severi
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta
Summary: Genetic variants in genes involved in histone acetylation and deacetylation cause congenital anomalies, often with neurodevelopmental disorders and dysmorphism. Arboleda-Tham syndrome caused by KAT6A gene variants is a newly described neurodevelopmental disorder. We report a patient with Arboleda-Tham syndrome identified through clinical exome sequencing, revealing a de novo KAT6A variant. This study highlights the importance of multidisciplinary collaboration and clinical description, and proposes additional diagnostic criteria based on phenotype characteristics.
Editorial Material
Acoustics
Tommaso Martino
JOURNAL OF CLINICAL ULTRASOUND
(2023)
Article
Oncology
Francesco Cecere, Laura Pignata, Bruno Hay Mele, Abu Saadat, Emilia D'Angelo, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Gioacchino Scarano, Giovanni Battista Rossi, Claudia Angelini, Angela Sparago, Flavia Cerrato, Andrea Riccio
Summary: This study reports a case of early-onset colorectal cancer (EO-CRC) in a 27-year-old woman with Beckwith-Wiedemann syndrome (BWSp). Genetic and epigenetic analysis revealed the presence of genetic and epigenetic variations that may be associated with the development of EO-CRC.
Article
Oncology
Alberto Visioli, Nadia Trivieri, Gandino Mencarelli, Fabrizio Giani, Massimiliano Copetti, Orazio Palumbo, Riccardo Pracella, Maria Grazia Cariglia, Chiara Barile, Luigi Mischitelli, Amata Amy Soriano, Pietro Palumbo, Federico Legnani, Francesco Dimeco, Leonardo Gorgoglione, Graziano Pesole, Angelo L. Vescovi, Elena Binda
Summary: This study demonstrates that distinct pools of GSCs enrich the functional inter-cluster variances in GBM patients. Two novel functional biomarkers that selectively represent GSCs pools were identified, capable of discriminating GBM patient stratification, survival, and drug response. These findings provide the groundwork for personalized diagnostic and prognostic strategies, as well as patient-selective treatment protocols.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2023)
Article
Clinical Neurology
Niccolo Orlandi, Giada Giovannini, Laura Mirandola, Giulia Monti, Andrea Marudi, Francesco Mosca, Alessandra Lalla, Giuseppe d'Orsi, Matteo Francavilla, Stefano Meletti
Summary: New onset refractory status epilepticus (NORSE) is a rare and challenging condition that occurs in previously healthy individuals. This article reports the electroclinical and neuroradiological evolution of an ultra-long case of NORSE with an unknown cause and emphasizes that prolonged refractory status epilepticus can lead to severe and disabling neurological sequelae.
EPILEPSY & BEHAVIOR REPORTS
(2022)
Article
Cardiac & Cardiovascular Systems
Angela Maggio, Sandra Mastroianno, Giuseppe Di Stolfo, Stefano Castellana, Pietro Palumbo, Maria Pia Leone, Anita Spirito, Domenico Rosario Potenza, Saverio Ladogana, Marco Castori, Massimo Carella, Massimo Villella, Mauro Pellegrino Salvatori
Summary: In the last few decades, cardio-oncology and cardiovascular genetics have gained more attention, leading to a new approach in the clinical management of cancer patients with cardiovascular disease. Genetic characterization of patients undergoing cancer treatment can help identify their predisposition to cardiovascular complications. The integrated cardiogenetic approach ensures better patient-centered healthcare and reduces drug-related complications.