Article
Veterinary Sciences
Melissa Gunther, Jared A. Jaffey, Jason Evans, Christopher Paige
Summary: A 4-year-old male dog presented with increased serum creatine kinase (CK) enzyme activity, alanine transferase, and aspartate aminotransferase enzyme activities, but remained subclinical with no clinical abnormalities. Differential diagnoses considered were an occult hereditary muscular dystrophic disorder or idiopathic hyperCKemia.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Clinical Neurology
Christopher Grunseich, Nathan Sarkar, Joyce Lu, Mallory Owen, Alice Schindler, Peter A. Calabresi, Charlotte J. Sumner, Ricardo H. Roda, Vinay Chaudhry, Thomas E. Lloyd, Thomas O. Crawford, S. H. Subramony, Shin J. Oh, Perry Richardson, Kurenai Tanji, Justin Y. Kwan, Kenneth H. Fischbeck, Ami Mankodi
Summary: Integrating deep phenotyping, gene filter algorithms, and biological assays increased the diagnostic yield of exome sequencing, identified novel pathogenic variants, and extended the phenotypes of difficult-to-diagnose rare neurogenetic disorders in an outpatient clinic setting.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Article
Health Care Sciences & Services
Abdallah Fayssoil, Nicolas Mansencal, Jean Bergounioux, Karim Wahbi, Tanya Stojkovic
Summary: This study investigates the impact of mechanical ventilation on cardiac function in patients with neuromuscular disorders. The results show that during ventilation setting modifications or introduction, it is crucial to focus on the systolic and diastolic functions of the right and left ventricles. These findings provide important information for the diagnosis and treatment of patients.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Multidisciplinary Sciences
Ziad Al Tanoury, John F. Zimmerman, Jyoti Rao, Daniel Sieiro, Harold M. McNamara, Thomas Cherrier, Alejandra Rodriguez-delaRosa, Aurore Hick-Colin, Fanny Bousson, Charlotte Fugier-Schmucker, Fabio Marchiano, Bianca Habermann, Jerome Chal, Alexander P. Nesmith, Svetlana Gapon, Erica Wagner, Vandana A. Gupta, Rhonda Bassel-Duby, Eric N. Olson, Adam E. Cohen, Kevin Kit Parker, Oliver Pourquie
Summary: This study introduces an in vitro human model to investigate the pathology of Duchenne muscular dystrophy (DMD) and test new therapeutic approaches. The researchers describe an optimized protocol for differentiating human induced pluripotent stem cells (iPSC) to a late myogenic stage, which allows them to replicate classic DMD phenotypes in isogenic DMD-mutant iPSC lines. Treatment with prednisolone significantly improves muscle function in DMD iPSC lines, challenging the prevailing view that its benefits are solely due to anti-inflammatory properties.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Clinical Neurology
Nobuyuki Eura, Satoru Noguchi, Masashi Ogasawara, Theerawat Kumutpongpanich, Shinichiro Hayashi, Ichizo Nishino
Summary: This study identified a diagnostic muscle involvement pattern in OPDM reflecting its natural history, which will help in appropriate intervention based on the diagnosis of OPDM.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Susana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, John Vissing, Francina Munell, Francois Rivier, Tanya Stojkovic, Edoardo Malfatti, Marta Gomez Garcia de la Banda, Giorgio Tasca, Laura Costa Comellas, Audrey Benezit, Helge Amthor, Ivana Dabaj, Clara Gontijo Camelo, Pascal Laforet, John Rendu, Norma B. Romero, Eliana Cavassa, Fabiana Fattori, Christophe Beroud, Jana Zidkova, Nicolas Leboucq, Nicoline Lokken, Angel Sanchez-Montanez, Ximena Ortega, Martin Kyncl, Corinne Metay, David Gomez-Andres, Robert Y. Carlier
Summary: Patients with LAMA2-RD exhibit a consistent pattern of abnormal muscle fat replacement in muscle imaging, which serves as a supportive diagnostic tool. Thigh muscles appear to be the most informative for assessing disease progression.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Maohua Li, Jiandi Huang, Min Liu, Chunmei Duan, Hong Guo, Xiaoyan Chen, Yue Wang
Summary: This study presents a 50-year-old female patient with Bethlem myopathy caused by a novel heterozygous mutation in the COL6A3 gene. The patient showed symptoms of facial weakness since childhood, and the disease gradually progressed with age. This finding expands the clinical spectrum and genetic heterogeneity of Bethlem myopathy.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Daniel Natera-de Benito, Sergio Aguilera-Albesa, Laura Costa-Comellas, Mar Garcia-Romero, Maria Concepcion Miranda-Herrero, Julia Rubies Olives, Oscar Garcia-Campos, Elena Martinez del Val, Maria Josefa Martinez Garcia, Inmaculada Medina Martinez, Ramon Cancho-Candela, Miguel A. Fernandez-Garcia, Samuel Ignacio Pascual-Pascual, David Gomez-Andres, Andres Nascimento
Summary: This study described the clinical characteristics and outcomes of COVID-19 in 29 children with neuromuscular disorders, showing that no severe complications were observed and the majority of cases were asymptomatic or mild.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Stefanie Meyer, Silke Kaulfuss, Sabrina Zechel, Karsten Kummer, Ali Seif Amir Hosseini, Marielle Sophie Ernst, Jens Schmidt, Silke Pauli, Jana Zschuentzsch
Summary: This study presents a diagnostic approach for clinically suspected hereditary muscular dystrophy by combining advanced Next Generation Sequencing with thorough phenotype assessment. It demonstrates the challenges in interpreting variants of unknown significance and highlights the importance of individualized diagnostic procedures in accurate diagnosis.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Pablo Brea Winckler, Bruna Cristine Chwal, Marco Antonnio Rocha Dos Santos, Daniela Burguez, Marcia Polese-Bonatto, Edmar Zanoteli, Marina Siebert, Filippo Pinto e Vairo, Marcia Lorena Fagundes Chaves, Jonas Alex Morales Saute
Summary: This study evaluated the effectiveness of a next-generation sequencing panel comprising 39 genes as the first-tier test for genetic myopathies diagnosis and characterized clinical and molecular findings of families from southern Brazil. The results showed a high diagnostic yield of the panel, reducing the time for patient diagnosis and providing important information for genetic counseling and disease-specific clinical trials.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Stefan Nicolau, Margherita Milone, Jennifer A. Tracy, John R. Mills, James D. Triplett, Teerin Liewluck
Summary: IMNM patients can present with atypical clinical and histological features, leading to delays in diagnosis and treatment. Despite these atypical findings, clinicians should consider IMNM as a possible cause of unexplained proximal myopathies. Immunomodulatory therapy has shown to be effective in all patients.
Article
Cardiac & Cardiovascular Systems
Enrico Bugiardini, Andreia M. Nunes, Ariany Oliveira-Santos, Marisela Dagda, Tatiana M. Fontelonga, Pamela Barraza-Flores, Alan M. Pittman, Jasper M. Morrow, Matthew Parton, Henry Houlden, Perry M. Elliott, Petros Syrris, Roderick P. Maas, Mohammed M. Akhtar, Benno Kusters, Joost Raaphorst, Meyke Schouten, Erik-Jan Kamsteeg, Baziel van Engelen, Michael G. Hanna, Rahul Phadke, Luis R. Lopes, Emma Matthews, Dean J. Burkin
Summary: This study describes the pathological changes caused by ITGA7 mutations in skeletal and cardiac muscle. Patients exhibited cardiac dysfunction and respiratory insufficiency, and mouse experiments also showed abnormalities related to the heart and muscles. The results suggest a critical role for integrin alpha 7 beta 1 in cardiac function.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Clinical Neurology
Marco Veneruso, Chiara Fiorillo, Paolo Broda, Serena Baratto, Monica Traverso, Alice Donati, Salvatore Savasta, Raffaele Falsaperla, Maria Margherita Mancardi, Marina Pedemonte, Chiara Panicucci, Gianluca Piatelli, Mattia Pacetti, Andrea Moscatelli, Luca Antonio Ramenghi, Lino Nobili, Carlo Minetti, Claudio Bruno
Summary: The role of muscle biopsy in diagnosing floppy infants is controversial as it is invasive and often non-specific, but still crucial in early infancy. Through a retrospective analysis, this study found that muscle biopsy results were consistent with genetic tests in 90% of cases, highlighting its importance in the diagnostic algorithm for hypotonia in infants.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Giulio Gadaleta, Guido Urbano, Chiara Brusa, Rossella D'Alessandro, Enrica Rolle, Ilaria Cavallina, Alessio Mattei, Fulvia Ribolla, Claudia Raineri, Stefano Pidello, Liliana Vercelli, Federica S. Ricci, Tiziana E. Mongini
Summary: The clinical characteristics of adults with DMD include mechanical ventilation, swallowing and nutritional issues, and bone density alterations. Other issues include respiratory infections, gastrointestinal symptoms, metabolic acidosis, psychiatric symptoms, and chronic pain. Patients have a negative perception of their physical health but a more positive assessment of their mental health.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Prashant Monian, Chikdu Shivalila, Genliang Lu, Mamoru Shimizu, David Boulay, Karley Bussow, Michael Byrne, Adam Bezigian, Arindom Chatterjee, David Chew, Jigar Desai, Frank Favaloro, Jack Godfrey, Andrew Hoss, Naoki Iwamoto, Tomomi Kawamoto, Jayakanthan Kumarasamy, Anthony Lamattina, Amber Lindsey, Fangjun Liu, Richard Looby, Subramanian Marappan, Jake Metterville, Ronelle Murphy, Jeff Rossi, Tom Pu, Bijay Bhattarai, Stephany Standley, Snehlata Tripathi, Hailin Yang, Yuan Yin, Hui Yu, Cong Zhou, Luciano H. Apponi, Pachamuthu Kandasamy, Chandra Vargeese
Summary: The study describes chemically modified oligonucleotides called AIMers that can efficiently and specifically direct RNA-editing enzymes to edit endogenous transcripts. Fully chemically modified AIMers with chimeric backbones showed enhanced potency and editing efficiency compared to uniformly modified AIMers in vitro. In vivo, AIMers targeted to hepatocytes achieved significant editing without off-target effects in non-human primate liver. This study demonstrates the potential of AIMers for therapeutic applications.
NATURE BIOTECHNOLOGY
(2022)
Article
Clinical Neurology
Ismail Solmaz, Tansu Doran, Mohammadreza Yousefi, Bahadir Konuskan, Ibrahim Oncel, Atay Vural, Banu Anlar
Summary: This study investigated the frequency of MOG-Ab seropositivity in pediatric onset MS (POMS) and found that low titers of MOG-Ab can be detected in a small number of POMS patients at similar frequency with adult MS. The clinical presentation of these MOG-Ab positive patients differs to some extent from MOG-Ab negative POMS patients.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2022)
Article
Medicine, Research & Experimental
Ozlem Mutlu-Burnaz, Burak Yulug, Merve Oncul, Esref Celik, Nilufer Sayar Atasoy, Seyda Cankaya, Lutfu Hanoglu, Halil Aziz Velioglu
Summary: Memory storage in the brain is a key subject in neuroscience, with particular interest in the role of hypothalamic melanin-concentrating hormone (MCH) neuronal activity in memory consolidation. In this study, chemogenetic inhibition of MCH neurons did not show significant improvement or worsening in memory consolidation.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Clinical Neurology
Mirac Yildirim, Ibrahim Oncel, Omer Bektas, Gizem Tanali, Suleyman Sahin, Tezer Kutluk, Serap Teber, Banu Anlar
Summary: Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare neuroinflammatory disorder in children. This retrospective study evaluated clinical and laboratory data of 23 children with OMAS and found that paraneoplastic causes, infections, and vaccinations were associated with the occurrence of OMAS. Initial treatment with intravenous immunoglobulin and steroids was effective, and rituximab showed improvement in persistent or recurrent symptoms. Relapse was associated with poor outcome.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Clinical Neurology
Unsal Yilmaz, Kivilcim Gucuyener, Merve Yavuz, Ibrahim Oncel, Mehmet Canpolat, Sema Saltik, Olcay Unver, Aysegul Nese Citak Kurt, Ayse Tosun, Sanem Yilmaz, Bilge Ozgor, Ilknur Erol, Ulkuhan Oztoprak, Duygu Aykol Elitez, Meltem Cobanogullari Direk, Muhittin Bodur, Serap Teber, Banu Anlar
Summary: This study described the characteristics of recent pediatric MS cases and found differences between early-onset and late-onset cases. Compared to the past, there were fewer early-onset patients with initial presentations of ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI, but a higher female/male ratio, frequency of sensorial symptoms, and CSF-restricted OCBs. These findings emphasize the importance of antibody testing and suggest that pediatric MS may be more similar to adult-onset MS than previously thought.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Clinical Neurology
Ibrahim Oncel, Nurettin Alici, Ismail Solmaz, Dogan Dinc Oge, Yasemin Ozsurekci, Banu Anlar
Summary: This study aimed to collect information on the experience of pediatric-onset multiple sclerosis (POMS) patients with COVID-19. The results showed that most patients who had been exposed to the virus or developed COVID-19 reported mild symptoms, which were not affected by treatment, disability, or comorbidities. These findings are consistent with studies in adult-onset MS.
PEDIATRIC NEUROLOGY
(2022)
Article
Genetics & Heredity
Burak Kahveci, Selin Onen, Fuat Akal, Petek Korkusuz
Summary: In this study, a deep learning method was used to detect and count seminiferous tubules and spermatogonial stem/progenitor cells (SSPCs) in testis sections of newborn mice. This provides a rapid and easy detection method for clinicians dealing with male infertility caused by prepubertal testicular damage.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Multidisciplinary Sciences
Eda Ciftci, Naz Bozbeyoglu, Ihsan Gursel, Feza Korkusuz, Feray Bakan Misirlioglu, Petek Korkusuz
Summary: This study compares the efficiency of magnetically activated cell sorting and ultracentrifugation for isolating exosomes derived from human mesenchymal stem cells. The results show that magnetically activated cell sorting provides higher purity and quantity of exosomes, and offers a quick and reliable method for potential cellular therapeutic approaches.
Article
Cell & Tissue Engineering
Selin Onen, Ali Can Atik, Merve Gizer, Sevil Kose, Onder Yaman, Haluk Kulah, Petek Korkusuz
Summary: A new microfluidic device based on bone marrow-derived mesenchymal stem cells has been found to support the maintenance of stem cells and in vitro spermatogenesis, offering potential protection and expansion of the stem cell pool for future fertility preservation in pediatric cancer survivors.
STEM CELL RESEARCH & THERAPY
(2023)
Article
Endocrinology & Metabolism
Iltan Aklan, Nilufer Sayar-Atasoy, Fei Deng, Hyojin Kim, Yavuz Yavuz, Jacob Rysted, Connor Laule, Debbie Davis, Yulong Li, Deniz Atasoy
Summary: This study investigated the role of downstream neural circuits of serotonergic neurons in regulating feeding in rats. Using optogenetics and other methods, the researchers found that these circuits interact with satiety hormones, revealing the regulatory mechanisms of these hormones.
MOLECULAR METABOLISM
(2023)
Article
Orthopedics
Eda Ciftci Dede, Merve Gizer, Feza Korkusuz, Zeynep Bal, Hiroyuki Ishiguro, Hideki Yoshikawa, Takashi Kaito, Petek Korkusuz
Summary: In this study, we combined nano-hydroxyapatite-polyethylene glycol/poly(lactic acid) (nHAp-PEG/PLA) with recombinant human bone morphogenetic protein 2 (rhBMP2) and evaluated the effects of 0.5, 1.0, and 3.0 μg/mL rhBMP2 on the proliferation, differentiation, and osteogenic genes of human bone marrow mesenchymal stem cells (hBMMSCs). The results showed that nHAp-PEG/PLA composites with 1.0 μg/mL and 3.0 μg/mL rhBMP2 promoted hBMMSC proliferation and differentiation.
Article
Multidisciplinary Sciences
Nilufer Sayar-Atasoy, Connor Laule, Iltan Aklan, Hyojin Kim, Yavuz Yavuz, Tayfun Ates, Ilknur Coban, Fulya Koksalar-Alkan, Jacob Rysted, Debbie Davis, Uday Singh, Muhammed Ikbal Alp, Bayram Yilmaz, Huxing Cui, Deniz Atasoy
Summary: This study investigates the role of norepinephrine in appetite regulation and identifies a novel ascending noradrenergic circuit that conveys hunger signals to the melanocortin pathway. The researchers found that norepinephrine levels in the paraventricular hypothalamic nucleus (PVN) increase with energy deficit signals and decrease with food access. They also discovered that the innervating catecholaminergic axon terminals from NTSTH-neurons target PVNMC4R-neurons and regulate appetite. These findings provide new insights into the mechanisms of appetite regulation.
NATURE COMMUNICATIONS
(2023)
Article
Biotechnology & Applied Microbiology
Hulya Gundesli, Medi Kori, Kazim Yalcin Arga
Summary: This study identifies dysregulation of several PLEC isoforms in different cancer types and stages, and highlights PLEC 1d and PLEC 1f as potential biomarkers for early cancer detection. Further functional studies are needed to uncover the role of plectin isoforms in cancer development and guide the development of novel cancer therapeutics.
OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY
(2023)
Article
Chemistry, Analytical
Ozge Boyacioglu, Tuba Recber, Sedef Kir, Petek Korkusuz, Emirhan Nemutlu
Summary: Synthetic and natural cannabinoid derivatives have potential as drug candidates for various diseases, including cancer. ACPA, a synthetic cannabinoid, shows anticancer effects on lung, pancreatic, and endometrial cancer. Therefore, it is crucial to quantify ACPA in biological samples for monitoring its effects. However, the short half-life and lack of UV signal of ACPA present challenges in its quantification. In this study, a sensitive and selective LC-MS/MS method was developed for quantification of ACPA in cell culture medium and intracellular matrix.
JOURNAL OF ANALYTICAL SCIENCE AND TECHNOLOGY
(2023)
Article
Endocrinology & Metabolism
Gimena Fernandez, Pablo N. De Francesco, Maria P. Cornejo, Agustina Cabral, Julieta P. Aguggia, Victor J. Duque, Nilufer Sayar, Sonia Cantel, Juan Burgos, Jean-Alain Fehrentz, Rodrigo Rorato, Deniz Atasoy, Andre S. Mecawi, Mario Perello
Summary: This study provides neuroanatomical and functional characterization of the neuronal types mediating ghrelin actions in the paraventricular nucleus of the hypothalamus. The results suggest that ghrelin mainly acts on neurons expressing nitric oxide synthase 1 (NOS1), and can increase c-Fos expression and phosphorylation of NOS1 in the paraventricular nucleus. Systemically injected ghrelin at a high dose increases ghrelin levels in cerebrospinal fluid and induces activation of a subset of NOS1 neurons in the paraventricular nucleus. Inhibition of nitric oxide production impairs ghrelin-induced calcium increase in corticotropin-releasing hormone neurons and partially impairs the increase of plasma glucocorticoid levels. These findings suggest that ghrelin can directly target specific neurons in the paraventricular nucleus involved in the activation of the hypothalamic-pituitary-adrenal neuroendocrine axis.
Article
Construction & Building Technology
Mostafa Farajian, Pejman Sharafi, Ali Bigdeli, Hadi Eslamnia, Payam Rahnamayiezekavat
Summary: This study investigates the dynamic characteristics of corner-supported modular structures using operational modal analysis. Experimental tests were conducted on a half-scaled three-storey modular structure, and the natural frequencies, mode shapes, and damping ratios were extracted. The findings are important for the development of an experimental formula for the design of multistorey modular buildings against lateral loads.