Article
Education, Special
Rosemary H. Woods, David Kerr, L. F. Woods, Ragu Raghavan, Pip Cornelius, Adam Brown
Summary: This study explores the use of meaningful sub vocal (SV) language by 20 participants with Profound and Multiple Learning Disabilities (PMLD). The results show that the participants' SV language has content and structure, is intelligible to listeners, and exhibits acoustic and phonetic features relative to normal speech and whisper.
RESEARCH IN DEVELOPMENTAL DISABILITIES
(2023)
Article
Psychology, Clinical
Benedikt Wicki, Tobias R. Spiller, Matthis Schick, Ulrich Schnyder, Richard A. Bryant, Angela Nickerson, Naser Morina
Summary: This study utilized network analysis to investigate the associations among post-migration living difficulties (PMLDs) in traumatized asylum seekers and refugees, highlighting a strong connection between communication difficulties and discrimination. The high predictability of isolation and its multiple associations with other PMLDs underlines its significance among the investigated population.
EUROPEAN JOURNAL OF PSYCHOTRAUMATOLOGY
(2021)
Article
Medicine, General & Internal
Hongling Fu, Qiu Wang, Hanmin Liu
Summary: PMLD is a serious hypomyelinating leukodystrophy that affects children's quality of life and can result from mutations in different genes. Early genetic counseling is suggested for accurate diagnosis and treatment.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2021)
Article
Biology
Corentin Affortit, Francois Casas, Sabine Ladrech, Jean-Charles Ceccato, Jerome Bourien, Carolanne Coyat, Jean-Luc Puel, Marc Lenoir, Jing Wang
Summary: This study found that p43 (-/-) mice did not show obvious hearing loss in juvenile stages, but developed premature and more severe age-related hearing loss due to loss of cochlear sensory cells and degeneration of spiral ganglion neurons. The exacerbated age-related hearing loss in p43 (-/-) mice was associated with early decrease in SIRT1 expression, imbalance in pro-apoptotic and anti-apoptotic proteins, mitochondrial dysfunction, oxidative stress, and inflammation. Additionally, p43 (-/-) mice were more susceptible to noise-induced hearing loss.
Article
Oncology
Yixue Li, Hengrui Liu
Summary: The study identified AIMP1 as a potential diagnostic and prognostic biomarker for HNSC patients, showing its association with worse survival rates and its potential effects on proliferation and the tumor immune microenvironment of HNSC cells.
Article
Education & Educational Research
Ben Simmons
Summary: There is ongoing debate about whether mainstream education is desirable for children with profound and multiple learning difficulties (PMLD). Some argue for 'inclusion' as a human right, while others believe special schools provide more suitable curricular for profoundly disabled learners. Research shows that mainstream and special schools offer alternative social spaces for children with PMLD, with novel forms of engagement correlating with positive social development. This challenges the mainstream-special binary in inclusion debates.
BRITISH JOURNAL OF SOCIOLOGY OF EDUCATION
(2021)
Article
Oncology
Rongfang Wei, Yan Zhu, Yuanjiao Zhang, Wene Zhao, Xichao Yu, Ling Wang, Chunyan Gu, Xiaosong Gu, Ye Yang
Summary: In patients with multiple myeloma (MM), increased expression of AIMP1 is closely associated with unfavorable prognostic outcomes. AIMP1 promotes MM cell proliferation by activating the MAPK signaling pathway and affects bone lesion formation through histone acetylation. Additionally, AIMP1 plays a role in promoting osteoclast differentiation.
CANCER COMMUNICATIONS
(2022)
Article
Instruments & Instrumentation
V. Balakin, O. Meshkov, V. Ulianitsky, Yu. Rogovsky, A. Semenov, N. Ageeva, S. Ivanova, T. Skaballanovich, A. Smirnov, K. Medvedeva
Summary: This study investigates the use of scintillator P43 coating for large area screens in preliminary beam diagnostics in the Collector Ring. Two coating techniques, detonation spraying and electrophoresis, were compared, with poor light output observed after detonation spraying and in comparison with P43 in electrophoresis technique.
JOURNAL OF INSTRUMENTATION
(2022)
Article
Biochemistry & Molecular Biology
Emilie Blanchet, Laurence Pessemesse, Christine Feillet-Coudray, Charles Coudray, Chantal Cabello, Christelle Bertrand-Gaday, Francois Casas
Summary: Deletion of p43 leads to a reduction in pancreatic islet density and loss of glucose-stimulated insulin secretion in mice. Our study showed that p43 is involved in beta cell development and maturation through regulation of the transcription factor MafA. Additionally, p43 deletion resulted in oxidative stress in pancreatic islets and affected insulin secretion in response to glucose.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Charles K. K. Abrams
Summary: Connexins are membrane proteins that facilitate communication between cells through the formation of channels. Different types of connexins are expressed by astrocytes and oligodendrocytes, allowing for specific interactions between these glial cells. Mutations in connexin genes can lead to various neurological disorders.
Article
Chemistry, Multidisciplinary
Jun Li, Xiao-Hui Li, Wen-Dong Yao, Wenlong Liu, Sheng-Ping Guo
Summary: Through the three-in-one strategy, two new pentanary chalcogenides KGaGe1.37Sn0.63S6 (1) and KGaGe1.37Sn0.63Se6 (2) were obtained, which have stable structures and balanced nonlinear optical properties. Remarkably, 1 is the first NLO sulfide crystallizing with the tetragonal P4(3) space group, representing a new structure-type NLO material.
Letter
Medicine, General & Internal
Ellen De Langhe, Sien Van Loo, Bert Malengier-Devlies, Mieke Metzemaekers, Frederik Staels, Jessica Vandenhaute, Nathalie Berghen, Raf Sciot, Anniek Corveleyn, Olga Tsuiko, Mieke Gouwy, Jan Lenaerts, Patrick Verschueren, Carine H. Wouters, Paul Proost, Patrick Matthys, Eric Legius, Rik Schrijvers
Summary: The article reports a case of adult-onset inflammatory disease. It is revealed that two somatic genetic events are responsible for the disease and its onset in adulthood.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Education, Special
Synne Nese Skarsaune
Summary: Persons with profound and multiple learning disabilities face exclusion in both research and society due to the challenges in understanding their embodied communication. Engaging in empathic communication can help grasp their perspective, and an ethnographic study can provide insights into how empathy can recognize them as subjects of knowledge. The characteristics of these individuals, such as their competencies, ambiguous communication, and dependency relations, contribute to the potential of recognizing them as subjects of knowledge. It is crucial to respect their alterity.
BRITISH JOURNAL OF LEARNING DISABILITIES
(2023)
Article
Chemistry, Physical
Ryan A. Herold, Raphael Reinbold, Clare F. Megarity, Martine Abboud, Christopher J. Schofield, Fraser A. Armstrong
Summary: This study demonstrates how human isocitrate dehydrogenase (IDH1) and its cancer-associated variant (IDH1 R132H) can be rendered electroactive by coconfining with a NADP(H) recycling enzyme in nanopores formed within an electrode. This enables real-time monitoring of IDH activity and redox landscape, mimicking the accumulation of the oncometabolite 2-hydroxyglutarate in the presence of the R132H variant. The technique also allows for time-resolved measurements of drug binding and dissociation kinetics.
JOURNAL OF PHYSICAL CHEMISTRY LETTERS
(2021)
Article
Clinical Neurology
Ikumi Hori, Daisuke Ieda, Shogo Ito, Seimi Ebe, Yuji Nakamura, Kei Ohashi, Kohei Aoyama, Ayako Hattori, Minoru Kokubo, Shinji Saitoh
Summary: This case report presents a patient with a homozygous nonsense AIMP1 variant showing peripheral neuropathy as well as HLD3, indicating the pivotal role of AIMP1 in both peripheral nerve and central nervous system.
BRAIN & DEVELOPMENT
(2021)
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
Vincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, Emer O'Connor, Anna Marce-Grau, Reza Maroofian, Pasquale Striano, Federico Zara, Michelle M. Morrow, Adi Reich, Amy Blevins, Julia Sala-Coromina, Andrea Accogli, Sara Fortuna, Marie Alesandrini, P. Y. Billie Au, Nilika Shah Singhal, Benjamin Cogne, Bertrand Isidor, Michael G. Hanna, Alfons Macaya, Dimitri M. Kullmann, Henry Houlden, Roope Mannikko
Summary: Novel mutations in KCNA6 gene were found to be associated with early infantile epileptic phenotypes and neurodevelopmental anomalies. Functional characterization revealed that these mutations affect channel closure and voltage dependence. This study is the first to report the association between de novo variants in KCNA6 and neurological features.
Article
Clinical Neurology
Vincenzo Daniele Boccia, Caterina Lapucci, Maria Cellerino, Francesco Tazza, Andrea Rossi, Simona Schiavi, Maria Margherita Mancardi, Matilde Inglese
Summary: The contribution of the central vein sign (CVS) to the diagnosis of multiple sclerosis (MS) was compared between pediatric-onset (POMS) and adult-onset (AOMS) patients. The study found that CVS had lower sensitivity in POMS patients, possibly due to the exclusion of a high proportion of periventricular confluent lesions from CVS assessment.
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Clinical Neurology
Silvia Boeri, Marina Martinez Popple, Thea Giacomini, Tommaso Bellini, Mariasavina Severino, Andrea Rossi, Carla Debbia, Silvana Ancona, Elena Aldera, Lino Nobili, Laura Siri
Summary: A 12-year-old boy developed central nervous system demyelinating lesions following SARS-CoV-2 infection. He experienced symptoms such as headache and orbital pain, but recovered well after treatment. This case contributes to expanding our understanding of possible complications of COVID-19 and serves as a reminder not to overlook mild neurological symptoms associated with the disease.
Article
Clinical Neurology
Irene Toldo, Francesco Brunello, Paola Cavasin, Margherita Nosadini, Stefano Sartori, Anna Chiara Frigo, Roberto Mai, Veronica Pelliccia, Maria Margherita Mancardi, Pasquale Striano, Marisavina Severino, Federico Zara, Romana Rizzi, Susanna Casellato, Gabriella Di Rosa, Mario Mastrangelo, Alberto Spalice, Mauro Budetta, Luca De Palma, Renzo Guerrini, Dario Pruna, Duccio Maria Cordelli, Vito Sofia, Amanda Papa, Valentina Chiesa, Francesca Ragona, Pasquale Parisi, Alfredo D'Aniello, Pierangelo Veggiotti, Filippo Dainese, Lucio Giordano, Laura Licchetta, Paolo Tinuper, Giuseppe D'Orsi, Matteo Cassina, Renzo Manara
Summary: The study aimed to evaluate the feasibility of using the Extended Glasgow Outcome Scale-pediatric version (EGOS-ped) for assessing the functional disability of patients with Subcortical band heterotopia (SBH). The results showed that 80% of the patients had high functional disability based on the EGOS-ped assessment. Poor outcomes were associated with motor deficit, language impairment, lower intelligence quotient, earlier epilepsy onset, higher prevalence of epileptic encephalopathy, thicker heterotopic band, and exclusive presence of pachygyria. The EGOS-ped was found to be a reliable tool for stratifying the functional disability of patients with SBH.
PEDIATRIC NEUROLOGY
(2023)
Article
Clinical Neurology
Gelsomina Aruta, Pietro Fiaschi, Marco Ceraudo, Gianluca Piatelli, Valeria Capra, Andrea Bianconi, Andrea Rossi, Francesca Secci, Marco Pavanello
Summary: This article examines the association between multisutural craniosynostosis with Chiari malformation (CM), venous hypertension, and hydrocephalus, and proposes a simple and effective therapeutic flow-chart for managing these rare pathologies.
PEDIATRIC NEUROSURGERY
(2023)
Article
Computer Science, Interdisciplinary Applications
Rosella Tro, Monica Roascio, Gabriele Arnulfo, Domenico Tortora, Mariasavina Severino, Andrea Rossi, Antonio Napolitano, Marco M. Fato
Summary: Choosing the most appropriate denoising method is crucial for improving the quality of diagnostic images in the pre-processing of diffusion MRI images. This study compared two adaptive techniques, Patch2Self and Nlsam, and found that Patch2Self framework is specifically suitable for DKI data, demonstrating better performance at 7T.
COMPUTER METHODS AND PROGRAMS IN BIOMEDICINE
(2023)
Article
Clinical Neurology
Sara Uccella, Alessandro Parodi, Maria Grazia Calevo, Lino Nobili, Domenico Tortora, Mariasavina Severino, Chiara Andreato, Andrea Rossi, Luca Antonio Ramenghi
Summary: This study aimed to determine the impact of isolated low-grade germinal matrix-intraventricular haemorrhages (LG-GMH-IVH) and low-grade punctate cerebellar haemorrhages (LG-CBH) on the neurodevelopment of infants born preterm with very low birthweight (VLBW). The results showed that both the LG-GMH-IVH and LG-CBH groups scored lower on the GMDS-ER assessments compared to the no-lesion group at all ages. Early rehabilitation may have contributed to the development of infants with LG-GMH-IVH, while it may have had a greater impact on the development of infants with LG-CBH.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Clinical Neurology
Mark A. Corbett, Christel Depienne, Liana Veneziano, Karl Martin Klein, Francesco Brancati, Renzo Guerrini, Federico Zara, Shoji Tsuji, Jozef Gecz
Summary: This review summarizes the history of genetic studies on Familial Adult Myoclonus Epilepsy (FAME) worldwide, covering the discovery of noncoding TTTTA and inserted TTTCA pentanucleotide repeat expansions within six different genes. FAME repeat expansions are dynamic in nature and have regional geographical distributions. Molecular diagnosis of FAME repeat expansions is challenging, requiring a trade-off between cost and efficiency. The discovery of FAME repeats will contribute to a better understanding of the molecular pathogenesis of FAME and the development of models for further research.
Article
Biochemistry & Molecular Biology
Gianluca D'Onofrio, Marcello Scala, Mariasavina Severino, Roberta Roberti, Ferruccio Romano, Patrizia De Marco, Michele Iacomino, Simona Baldassari, Paolo Uva, Marco Pavanello, Stefano Gustincich, Pasquale Striano, Federico Zara, Valeria Capra
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Vito Terlizzi, Emanuela Pesce, Valeria Capurro, Valeria Tomati, Mariateresa Lena, Cristina Pastorino, Renata Bocciardi, Federico Zara, Claudia Centrone, Giovanni Taccetti, Carlo Castellani, Nicoletta Pedemonte
Summary: This study described the clinical features of individuals carrying the S737F CFTR variant and evaluated its functional impact on CFTR protein as well as its responsiveness to CFTR modulators through ex vivo functional and molecular analyses. Clinical data were collected retrospectively for all individuals with at least one S737F CFTR variant followed at the CF Centre of Tuscany region (Italy). The study demonstrated varying levels of CF activity in ex vivo nasal epithelia, with some individuals showing reduced CFTR activity that could be rescued by treatment with CFTR modulators. In vitro analysis on bronchial cells expressing S737F-CFTR also showed modest impairment of channel activity, which was improved with treatment using ivacaftor alone or in combination with tezacaftor/elexacaftor. This study provides evidence for using ex vivo nasal epithelial cell models to evaluate CFTR function and assist clinicians in classifying individuals with discordance between clinical symptoms, sweat test, and genetic profile.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Acoustics
Nevena Fileva, Mariasavina Severino, Domenico Tortora, Antonia Ramaglia, Dario Paladini, Andrea Rossi
Summary: Fetal MRI is a crucial tool for diagnosing brain malformations during prenatal stages, especially when ultrasound indicates a potential abnormality. Despite the immature state of the fetal brain, early signs of brain malformations can still be recognized. Differentiating between normal brain growth and pathological conditions can be challenging and requires extensive knowledge of the central nervous system's development and corresponding neuroradiological stages. This article provides a review of common second-trimester brain malformations, focusing on helpful tips and subtle signs to aid in the diagnosis of conditions such as rhombencephalosynapsis, vermian rotation, molar tooth spectrum anomalies, diencephalic-mesencephalic junction dysplasia, ganglionic eminence anomalies, and common malformations of cortical development.
JOURNAL OF CLINICAL ULTRASOUND
(2023)
Article
Pediatrics
Cristina Chelleri, Marcello Scala, Patrizia De Marco, Monica Traverso, Marzia Ognibene, Irene Bruno, Pasquale Striano, Mariasavina Severino, Federico Zara, Maria Cristina Diana, Marco Pavanello
Summary: Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by pathogenic variants in the NF1 gene. Drugs targeting the RAS/MAPK pathway, such as Selumetinib, show promise in treating NF1-associated tumors. However, Selumetinib may interfere with cerebral neovascularization in patients with moyamoya syndrome (MMS) requiring surgical revascularization. Imaging surveillance and surgical revascularization should be prioritized for NF1-associated MMS patients receiving Selumetinib.
FRONTIERS IN PEDIATRICS
(2023)
Article
Medicine, General & Internal
George Hadjidekov, Gleb Haynatzki, Petya Chaveeva, Miroslav Nikolov, Gabriele Masselli, Andrea Rossi
Summary: This study compared the 2D and 3D segmentation of fetal lateral ventricles and brain structures using ultrasound and MRI. The results showed that both ultrasound and MRI measurements were consistent and reliable, providing valuable information for clinical prognosis and patient counseling.
Article
Biochemistry & Molecular Biology
Marzia Ognibene, Patrizia De Marco, Loredana Amoroso, Martina Fragola, Federico Zara, Stefano Parodi, Annalisa Pezzolo
Summary: Chromosomal instability (CIN) is a hallmark of most human cancers and can lead to losses or gains of chromosomes. This study evaluated the prognostic role of CIN in NB patients at diagnosis and found that high CIN values are negatively associated with survival of NB patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
