Article
Medical Laboratory Technology
Ming Shen, Guangming Yang, Zhehui Chen, Kai Yang, Hui Dong, Chengliang Yin, Yuxuan Cheng, Chunyan Zhang, Fangyan Gu, Yanling Yang, Yaping Tian
Summary: This study identified several genetic variants in pediatric patients with developmental delay, confirming their diagnosis of cerebral creatine deficiency syndromes (CCDS). The findings expanded the knowledge of mutation spectrum in CCDS disorders and provided evidence for genetic counseling to affected families.
CLINICA CHIMICA ACTA
(2022)
Review
Endocrinology & Metabolism
Malene Mejdahl Nielsen, Esben Thade Petersen, Christina Duhring Fenger, Mette Cathrine Orngreen, Hartwig Roman Siebner, Vincent Oltman Boer, Michal Povaz, Allan Lund, Sabine Weller Gronborg, Trine Bjorg Hammer
Summary: This study reports a new case of a female patient with learning disabilities and seizures. The diagnosis was confirmed through molecular genetic testing and proton magnetic resonance spectroscopy (1H-MRS). The patient was treated with supplementation of creatine, arginine, and glycine, leading to significant clinical improvement and increased creatine levels in the brain after 28 months of treatment. Additionally, a review of 32 female cases from the literature provides valuable information on the phenotypes, genotypes, diagnostic approaches, and effects of supplementation treatment.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Multidisciplinary Sciences
K. S. Cujia, K. Herb, J. Zopes, J. M. Abendroth, C. L. Degen
Summary: The study extends nuclear magnetic resonance imaging to large nuclear spin clusters by combining weak quantum measurements, phase encoding, and simulated annealing. This method allows for the simultaneous detection of three-dimensional positions from multiple nuclei, with spatial selectivity and successful imaging of clusters containing multiple nuclear spins at room temperature.
NATURE COMMUNICATIONS
(2022)
Review
Endocrinology & Metabolism
Gabriella Fernandes-Pires, Olivier Braissant
Summary: Creatine deficiency syndromes are inherited metabolic disorders that mainly affect the central nervous system. Current treatment strategies can benefit some patients, but for others, the development of novel therapies is necessary for more effective treatment options.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Nutrition & Dietetics
Sergej M. Ostojic
Summary: This study conducted a secondary analysis of previously completed GAA loading trials and found a relatively favorable response rate to short-term GAA loading in healthy young men. The contrasting location-dependent pattern for GAA and creatine to positively affect brain creatine levels may be of significant interest to the scientific community for further research.
CLINICAL NUTRITION
(2021)
Article
Cardiac & Cardiovascular Systems
Chiara Bruzzone, Ruben Gil-Redondo, Marisa Seco, Rocio Barragan, Laura de la Cruz, Claire Cannet, Hartmut Schaefer, Fang Fang, Tammo Diercks, Maider Bizkarguenaga, Beatriz Gonzalez-Valle, Ana Lain, Arantza Sanz-Parra, Oscar Coltell, Ander Lopez de Letona, Manfred Spraul, Shelly C. Lu, Elisabetta Buguianesi, Nieves Embade, Quentin M. Anstee, Dolores Corella, Jose M. Mato, Oscar Millet
Summary: Metabolic syndrome (MetS) is a complex condition without a clear medical definition. This study used NMR metabolomics to analyze urine samples from a European cohort, revealing a unique molecular signature of MetS. The results showed that MetS progression is associated with specific changes in the urine metabolome, which can be used to identify individuals with MetS and provide insight into the transitional states between healthy individuals and MetS patients.
CARDIOVASCULAR DIABETOLOGY
(2021)
Article
Genetics & Heredity
Myriam Abdennadher, Sara K. Inati, Samar Rahhal, Omar Khan, Luca Bartolini, Audrey Thurm, William Theodore, Judith S. Miller, Forbes D. Porter, Simona Bianconi
Summary: This study reported the seizure characteristics and EEG findings in males with creatine transporter deficiency (CTD). The findings showed that seizures were frequent in the study cohort, but tended to respond to antiseizure medications. Longitudinal follow-up provided further insight into the emergence of seizures and EEG abnormalities, soliciting future studies with long-term follow-up.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Nutrition & Dietetics
Sergej M. Ostojic
Summary: Low tissue creatine is a characteristic of many diseases, and non-invasive monitoring with MRS can be a valuable tool for evaluating and utilizing tissue creatine as a relevant target in clinical nutrition.
Article
Genetics & Heredity
Melanie Brugger, Theresa Brunet, Matias Wagner, Laura Elena Orec, Eva Maria Christina Schwaibold, Nikolas Boy
Summary: Correct diagnosis of developmental delay and intellectual disability in children remains challenging due to complex and heterogeneous etiology. High throughput sequencing technologies like exome sequencing have become more commonly available and are significantly improving genetic testing. In a case study of two siblings with a similar clinical phenotype, unbiased and comprehensive genetic testing was crucial to identify the underlying genetic conditions in each sibling, highlighting the importance of accurate diagnosis despite locus heterogeneity.
Article
Chemistry, Physical
Brijith Thomas, Daniel Jardon-Alvarez, Raanan Carmieli, Johan van Tol, Michal Leskes
Summary: In DNP-NMR experiments, the polarization of unpaired electrons is transferred to nuclei, increasing the sensitivity of NMR signal. While this method is efficient in crystalline inorganic oxides, it is less effective in oxide glasses. The difference in efficiency can be attributed to shorter relaxation times and dielectric properties in glasses. These findings provide guidance in identifying suitable materials for the DNP approach.
JOURNAL OF PHYSICAL CHEMISTRY C
(2023)
Article
Chemistry, Organic
Trinadh Kaicharla, Bhavani Shankar Chinta, Thomas R. Hoye
Summary: This article provides examples that demonstrate the value of using properly designed and easily performed doping experiments to gain insights about the nature of analytes in a H-1 NMR sample. By conducting doping experiments on a complex mixture and a simple mixture, multiple compounds were successfully identified, highlighting the advantage of doping experiments over comparing spectra from separate samples containing the same analyte.
JOURNAL OF ORGANIC CHEMISTRY
(2022)
Editorial Material
Chemistry, Multidisciplinary
Geoffrey Bodenhausen
Summary: Richard Ernst's scientific legacy in magnetic resonance research is highlighted, spanning various areas such as chemical exchange, Overhauser effects, cross-correlated relaxation, quantum computing, and phase encoding in magnetic resonance imaging.
Review
Chemistry, Multidisciplinary
Nikita V. Chukanov, Roman V. Shchepin, Sameer M. Joshi, Mohammad S. H. Kabir, Oleg G. Salnikov, Alexandra Svyatova, Igor V. Koptyug, Juri G. Gelovani, Eduard Y. Chekmenev
Summary: NMR hyperpolarization techniques greatly increase nuclear spin polarization, leading to significant sensitivity gains for applications in high-resolution NMR spectroscopy and real-time metabolic imaging. Various hyperpolarization techniques exist, with a focus on targeting C-13 and N-15 sites in biocompatible agents. Long T-1 values of these sites allow hyperpolarized states to be retained for extended periods, with SABRE being a versatile low-cost technique for hyperpolarization of N-15 nuclei.
CHEMISTRY-A EUROPEAN JOURNAL
(2021)
Article
Transplantation
Yishan Dong, Stephen M. Silver, Richard H. Sterns
Summary: Spot determinations of urine creatinine concentration are commonly used to estimate 24-hour urine excretion rates, but these estimates can be inaccurate if the serum creatinine concentration is changing or if there are extreme variations in muscle mass. Several equations have been proposed for estimating urine volume based on urine creatinine concentrations, but none of them are accurate in all situations.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Clinical Neurology
Defang Liu, Rupei Liang, Shuxin Bai, Bo Lan, Guoyong Liu, Debin Wang, Suo Yuan, Wenjie Sun, Guangyu Li
Summary: The study demonstrates that modified electroconvulsive therapy has significant effects on neurometabolites, MRSI signals, and quality of life in patients with refractory obsessive-compulsive disorder. It effectively relieves obsessive-compulsive symptoms, improves overall health scores, and is associated with changes in right brain functional activities.
JOURNAL OF AFFECTIVE DISORDERS
(2022)
Correction
Biochemistry & Molecular Biology
Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S. Lipska-Zietkiewicz
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Diana Alaverdian, Anna Margherita Corradi, Bruno Sterlini, Fabio Benfenati, Luca Murru, Maria Passafaro, Jlenia Brunetti, Ilaria Meloni, Francesca Mari, Alessandra Renieri, Elisa Frullanti
Summary: Loss of function mutations in PCDH19 gene cause X-linked infant-onset clustering epilepsy with intellectual disability and autistic features. This study used fibroblasts from a female patient to generate hiPSCs and created mosaic neurons by mixing wild-type and mutated hiPSC clones, providing a cell model for studying the pathogenesis of PCDH19-CE.
EPILEPTIC DISORDERS
(2023)
Correction
Biochemistry & Molecular Biology
Francesca Catapano, Mohamed El Hachmi, Natacha Ketterer-Heng, Alessandra Renieri, Francesca Mari, Michael Morris, Christophe Cordier
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Martina Miceli, Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Silvestra Amata, Corrado Romano, Maria Clara Bonaglia, Marco Fichera
Summary: Individuals with 2p15p16.1 microdeletion syndrome exhibit a complex phenotype. The study identifies BCL11A, REL, USP34, and XPO1 as candidate genes. By considering non-penetrant deletions, the study provides a more accurate correlation between specific genomic segments and traits.
Review
Biochemistry & Molecular Biology
Stefania Mantovani, Barbara Oliviero, Stefania Varchetta, Alessandra Renieri, Mario U. Mondelli
Summary: Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has caused a devastating pandemic since March 2020. Toll-like receptors (TLRs) have been shown to be involved in the dysregulated immune response observed in patients with severe COVID-19. TLR2, TLR3, TLR4, and TLR7 have been associated with COVID-19 severity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Federica Saia, Adriana Prato, Lucia Saccuzzo, Francesca Madia, Rita Barone, Marco Fichera, Renata Rizzo
Summary: This study aimed to understand the molecular bases of Tourette syndrome (TS) in a large cohort of pediatric patients. Molecular analyses, including array-CGH analyses, were conducted to identify and compare copy number variations (CNVs) related to neurodevelopment and neuropsychiatric disorders. The study found a higher occurrence of rare deletions and duplications focusing on significant neurodevelopment genes in children with tics and additional comorbidities.
Article
Cell Biology
Sura Hilal Ahmed Al Sammarraie, Domenico Aprile, Ilaria Meloni, Nicola Alessio, Francesca Mari, Marianna Manata, Caterina Lo Rizzo, Giovanni Di Bernardo, Gianfranco Peluso, Alessandra Renieri, Umberto Galderisi
Summary: Although adult stem cells have limited differentiation potential and cannot be used as a general model for human illness, Muse stem cells, a population of SSEA3(+) cells isolated from mesenchymal stromal cells, fat, and skin fibroblasts, may overcome this limitation. Muse cells isolated from patient fibroblast cultures can be differentiated into cells of interest for disease analysis.
Article
Genetics & Heredity
Elisabeth Bosch, Bernt Popp, Esther Guese, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Oezlem Baysal, Dewi Hartwich, Laura Holthoefer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cusco, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin Mcginnis, John Millichap, Jiddeke M. van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther A. R. Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M. Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E. Stevenson, Gijs W. E. Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, Andre Reis, Andrea Accogli, Georgia Vasileiou
Summary: This study improved the classification of SMARCC2 variants and identified distinguishable SMARCC2-associated phenotypes for LGD and non-truncating variants. These phenotypes are distinct from other BAFopathies, suggesting different pathomechanisms.
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato, Gabriele Trimarchi, Chiara Gelmini, Stefano Giuseppe Caraffi, Anita Wischmeijer, Daniele Frattini, Antonio Novelli, Livia Garavelli
Summary: Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. The most common genetic locus associated with SHFM1 is located in the 7q21q22 region. A deletion in 7q21 was found in a patient with SHFM1, which included exons 15 and 17 of DYNC1I1 known to act as exonic enhancers of the DLX5/6 genes. This study demonstrates the role of regulatory elements in causing congenital malformations.
Review
Genetics & Heredity
Constantinos Deltas, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras, Frances Flinter, Daniel P. Gale, Susie Gear, Oliver Gross, Julia Hoefele, Rachel Lennon, Jeffrey H. Miner, Alessandra Renieri, Judy Savige, A. Neil Turner
Summary: Familial hematuria is a clinical sign of a genetically heterogeneous group of conditions, most commonly caused by pathogenic variants in the COL4A3/A4/A5 genes. The disease can lead to kidney failure, but the severity and progression vary among patients. Currently, it is still uncertain how to distinguish patients who require prompt medical intervention.
Article
Public, Environmental & Occupational Health
Vassilis Sideropoulos, Jo Van Herwegen, Ben Meuleman, Michael Alessandri, Faisal M. Alnemary, Jamal Amani Rad, Pamela A. Banta Lavenex, Nikita Bolshakov, Sven Bolte, Paulina Buffle, Ru Y. Cai, Ruth Campos, Adela Chirita-Emandi, Andreia P. Costa, Floriana Costanzo, Vincent Des Portes, Daniel Dukes, Laurence Faivre, Nawelle Famelart, Marisa H. Fisher, Liudmilla Gamaiunova, Aikaterini Giannadou, Rashmi Gupta, Antonio Y. Hardan, Francoise Houdayer-Robert, Lenka Hrncirova, Roberto Tadeu Iaochite, Katarina Jariabkova, Bonita P. Klein-Tasman, Pierre Lavenex, Supriya Malik, Francesca Mari, Pastora Martinez-Castilla, Deny Menghini, Heather J. Nuske, Olympia Palikara, Anouk Papon, Robin S. Pegg, Hamidreza Pouretemad, Luise Poustka, Ingolf Prosetzky, Alessandra Renieri, Sinead M. Rhodes, Deborah M. Riby, Massimiliano Rossi, Saeid Sadeghi, Xueyen Su, Claire Tai, Michel Tran, Fionnuala Tynan, Mirko Uljarevic, Amy V. Van Hecke, Guida Veiga, Alain Verloes, Stefano Vicari, Sonja G. Werneck-Rohrer, Eric Zander, Andrea C. Samson
Summary: The COVID-19 pandemic has greatly impacted the mental health and well-being of children with neurodevelopmental conditions and their families worldwide. Family-related and child-related factors were found to play a significant role in the anxiety levels of these families and children.
JOURNAL OF GLOBAL HEALTH
(2023)
Article
Psychiatry
Flavia Privitera, Maria A. Trusso, Floriana Valentino, Gabriella Doddato, Chiara Fallerini, Giulia Brunelli, Romina D'Aurizio, Simone Furini, Arianna Goracci, Andrea Fagiolini, Francesca Mari, Alessandra Renieri, Francesca Ariani
Summary: This study focuses on a large family with 12 members affected by bipolar disorder. Through whole-exome sequencing, certain genes, including CLN6 and ZNF92, were identified as having variations associated with the disorder. The findings suggest that heterozygous carriers of CLN6 may develop bipolar disorder later in life if combined with additional variants in ZNF92.
BRAZILIAN JOURNAL OF PSYCHIATRY
(2023)
Article
Biochemistry & Molecular Biology
Melanie T. Achleitner, Judith J. M. Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, Rene G. Feichtinger, Karin Brugger, Doris Mayr, Ron A. Wevers, Christian Thiel, Saskia B. Wortmann, Johannes A. Mayr
Summary: Two siblings showed increased levels of galactose and related metabolites in neonatal screening, but diagnostic tests did not identify abnormalities in known disease-causing enzymes. Whole-exome sequencing revealed a homozygous missense variant in the PPA1 gene, which was found to reduce enzyme activity and protein stability. The observed metabolic derangement is hypothesized to be a mild manifestation of PPA1 deficiency.
Correction
Biochemistry & Molecular Biology
Shona Kalkman, Ron A. Wevers, Frits A. Wijburg, Mariska M. G. Leeflang
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)