Review
Medicine, General & Internal
Qiao Liu, Fang Li, Jingjing Zhou, Xiaoyu Liu, Jidong Peng, Lianggeng Gong
Summary: The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous system symptoms and intellectual disability. Brain imaging findings mainly caused by cytotoxic edema. MSUD is rarely reported, while cervical spinal cord involvement is extremely rare.
Article
Genetics & Heredity
Lulu Li, Xinmei Mao, Nan Yang, Taoyun Ji, Shunan Wang, Yulan Ma, Haihe Yang, Yuting Sang, Jinqi Zhao, Lifei Gong, Yue Tang, Yuanyuan Kong
Summary: This study identified nine pathogenic variants in the BCKDHA, BCKDHB, and DBT genes in six MSUD families, including two novel pathogenic variants in the BCKDHB gene, which enriched the genetic mutational spectrum of the disease. High-throughput sequencing is essential for the differential diagnosis, early treatment, and prenatal diagnosis of MSUD.
FRONTIERS IN GENETICS
(2023)
Article
Health Care Sciences & Services
Mayda Alrige, Haneen Banjar, Taghreed Shuaib, Amal Ahmed, Raghad Gharbawi
Summary: Maple syrup urine disease (MSUD) is a metabolic disorder that affects the digestion and processing of proteins necessary for growth. An intelligent dietary tool called MSUD Baby Buddy has been developed to assist caregivers of MSUD patients in tracking amino acid intake from baby formulas. The tool uses a knowledge-based system to provide accurate recommendations based on patient data and formula preferences. MSUD Baby Buddy aims to maintain proper amino acid levels and reduce the need for frequent visits to medical professionals.
Article
Dentistry, Oral Surgery & Medicine
Elif Ballikaya, Yilmaz Yildiz, Nagihan Koc, Aysegul Tokatli, Meryem Uzamis Tekcicek, Hatice Serap Sivri
Summary: The study revealed that patients with MSUD have poor oral health, including dental caries, gingival inflammation, and dental anomalies. Multidisciplinary management is needed to promote oral health, including regular dental check-ups, preventive measures, and dental treatments.
Article
Endocrinology & Metabolism
Jenny A. Greig, Matthew Jennis, Aditya Dandekar, Joanna K. Chorazeczewski, Melanie K. Smith, Scott N. Ashley, Hanying Yan, James M. Wilson
Summary: Maple syrup urine disease (MSUD) is a rare genetic metabolic disorder with no cure, but gene therapy could be a potential treatment approach. Research suggests that a gene therapy vector that targets both muscle and liver may be an effective strategy for treating MSUD.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Medical Laboratory Technology
Shujun Ma, Zhongxin Zhang, Yanyan Fu, Mingxia Zhang, Yuna Niu, Ruiguang Li, Qinghe Guo, Zhian He, Qingwei Zhao, Zhishan Song, Xia Wang, Ruili Sun
Summary: By using targeted capture sequencing, Real-Time PCR, whole genome sequencing, long-range PCR, and Sanger sequencing, a family with clinical symptoms of maple syrup urine disease was found to have compound heterozygous mutations, including a small deletion mutation and a gross novel deletion, with the junction site of the deletion located within two Alu elements.
CLINICA CHIMICA ACTA
(2021)
Article
Genetics & Heredity
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Doederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb-Ludwig, Ester S. Borges, Jose S. Camelo
Summary: Maple syrup urine disease (MSUD) is a metabolic disorder caused by deficient BCKD enzymatic complex activity. This study identified novel pathogenic mutations in BCKDHA, BCKDHB, and DBT genes in Chilean MSUD patients, and found no correlation between genotype and phenotype. Early diagnosis through newborn screening may help establish genotype-phenotype relationships more efficiently.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Endocrinology & Metabolism
Azza Al Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al-Hashmi, Fathiya Al Murshedi
Summary: Congenital hyperinsulinism (CHI) is a challenging disease to diagnose and manage, and when combined with another metabolic disease like maple syrup urine disease (MSUD), the management becomes even more complex.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Firat Ozcelik, Sezai Arslan, Busra Ozguc Caliskan, Fatih Kardas, Yusuf Ozkul, Munis Dundar
Summary: Maple syrup urine disease (MSUD) is a metabolic disorder caused by the inadequate breakdown of branched-chain amino acids. This is due to pathogenic variants in BCKDHA, BCKDHB, DBT, or DLD genes, which encode subunits of the branched-chain alpha-ketoacid dehydrogenase complex. In this study, we report a patient with MSUD carrying a novel homozygous start-loss variant in the PPM1K gene, highlighting the role of PPM1K variants in causing mild MSUD.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Pediatrics
Helena Moreira-Silva, Sandra Ferreira, Manuela Almeida, Isabel Goncalves, Maria Augusta Cipriano, J. R. Vizcaino, Ermelinda Santos-Silva, Esmeralda Gomes-Martins
Summary: Overconsumption of fructose and childhood overweight are closely related to the development of pediatric NAFLD. However, their role in the early onset and progression of NAFLD in the allograft remains to be established. Furthermore, further research is needed to study the possible interaction between a BCAA imbalance and dietary intake in the development of NAFLD.
FRONTIERS IN PEDIATRICS
(2022)
Article
Medicine, General & Internal
Yun-Ting Lin, Yan-Na Cai, Tzer Hwu Ting, Li Liu, Chun-Hua Zeng, Ling Su, Min-Zhi Peng, Xiu-Zhen Li
Summary: This study shares the diagnostic experience of an intermediate MSUD case and highlights the importance of genetic analysis in ambiguous cases, as well as the need to avoid missing patients with non-classic mild phenotypes of MSUD.
WORLD JOURNAL OF CLINICAL CASES
(2023)
Article
Endocrinology & Metabolism
Fabio A. Morais, Isabela S. Lemos, Rafaela T. Matiola, Maria Luisa S. Freitas, Carolina G. Alano, Julia Cabral, Leticia B. Wessler, Jaqueline S. Generoso, Giselli Scaini, Gislaine Z. Reus, Emilio L. Streck
Summary: Maple Syrup Urine Disease (MSUD) is a metabolic disorder caused by deficiency in an enzyme complex, leading to the accumulation of certain amino acids. This study demonstrates that chronic administration of these amino acids can induce depressive-like behavior in rats, as well as alter neurotrophin levels. However, treatment with an antidepressant drug can prevent these behavioral changes and restore neurotrophin levels.
METABOLIC BRAIN DISEASE
(2022)
Article
Medicine, General & Internal
K. K. Harshyenee, Pranav Ajmera, Aastha Agarwal, Ajay Dahiya, Vinay Kumar Parripati
Summary: Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder caused by a deficiency of a specific enzyme. This leads to the accumulation of BCAAs in the body, resulting in various symptoms such as feeding problems, vomiting, lethargy, and irritability. If left untreated, it can lead to seizures, coma, and death. Blood and urine analysis can detect the accumulation of BCAAs.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Medicine, General & Internal
Aliya Allahwala, Sibtain Ahmed, Bushra Afroze
Summary: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by BCKD deficiency, leading to toxic accumulation of BCAAs. Diagnosis is usually based on specific chemical testing in plasma and urine, with brain MRI results helping to confirm the disorder quickly.
JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION
(2021)
Article
Endocrinology & Metabolism
Daniel O'Reilly, Ellen Crushell, Joanne Hughes, Stephanie Ryan, Yvonne Rogers, Ingrid Borovickova, Philip Mayne, Michael Riordan, Atif Awan, Kevin Carson, Kim Hunter, Bryan Lynch, Amre Shahwan, Veronique Rufenacht, Johannes Haberle, Eileen P. Treacy, Ahmad A. Monavari, Ina Knerr
Summary: Since 1972, 18 patients with neonatal-onset maple syrup urine disease (MSUD) have been detected by newborn bloodspot screening (NBS) in Ireland. Treatment has been based on early implementation of emergency treatment, diet, close monitoring, and even dialysis in the setting of acute metabolic decompensation. Early diagnosis and skilled multidisciplinary team management are crucial for achieving good outcomes for patients.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Michael Orthofer, Armand Valsesia, Reedik Maegi, Qiao-Ping Wang, Joanna Kaczanowska, Ivona Kozieradzki, Alexandra Leopoldi, Domagoj Cikes, Lydia M. Zopf, Evgenii O. Tretiakov, Egon Demetz, Richard Hilbe, Anna Boehm, Melita Ticevic, Margit Noukas, Alexander Jais, Katrin Spirk, Teleri Clark, Sabine Amann, Maarja Lepamets, Christoph Neumayr, Cosmas Arnold, Zhengchao Dou, Volker Kuhn, Maria Novatchkova, Shane J. F. Cronin, Uwe J. F. Tietge, Simone Mueller, J. Andrew Pospisilik, Vanja Nagy, Chi-Chung Hui, Jelena Lazovic, Harald Esterbauer, Astrid Hagelkruys, Ivan Tancevski, Florian W. Kiefer, Tibor Harkany, Wulf Haubensak, G. Gregory Neely, Andres Metspalu, Jorg Hager, Nele Gheldof, Josef M. Penninger
Article
Materials Science, Multidisciplinary
Marin Tadic, Lazar Kopanja, Matjaz Panjan, Jelena Lazovic, Biljana Vucetic Tadic, Boban Stanojevic, Laurence Motte
Summary: Hematite nanorhombohedrons and nanoplates were prepared through a hydrothermal synthesis process, with the nanoplates showing higher coercivity and transverse relaxivity rate compared to the nanorhombohedrons, indicating a shape-dependent magnetic behavior.
MATERIALS RESEARCH BULLETIN
(2021)
Article
Biology
Dominic Kargl, Joanna Kaczanowska, Sophia Ulonska, Florian Groessl, Lukasz Piszczek, Jelena Lazovic, Katja Buehler, Wulf Haubensak
Article
Biochemical Research Methods
F. Vazquez, S. E. Solis-Najera, J. Lazovic, L. M. Zopf, R. Martin, L. Medina, O. Marrufo, A. O. Rodriguez
Summary: A method for remote excitation of RF signal for ultra high field MRI was reported, using a waveguide and bio-inspired surface coil to perform experiments and acquire high-quality images with a small-bore MR imager. The study validated the approach through numerical, theoretical, and experimental results, showing excellent correspondence between calculated and simulated outcomes.
JOURNAL OF MAGNETIC RESONANCE
(2021)
Article
Chemistry, Multidisciplinary
Onder Erin, Mustafa Boyvat, Jelena Lazovic, Mehmet Efe Tiryaki, Metin Sitti
Summary: MRI scanners can not only provide high-resolution medical imaging but also enable magnetic robot actuation and tracking. A proposed wireless capsule-type reversible orientation-locking robot (REVOLBOT) addresses limitations in the rotational motion and medical functionalities of MRI-powered wireless magnetic capsule-type robots.
Correction
Radiology, Nuclear Medicine & Medical Imaging
Lydia M. Zopf, Patrick Heimel, Stefan H. Geyer, Anoop Kavirayani, Susanne Reier, Vanessa Frohlich, Alexander Stiglbauer-Tscholakoff, Zhe Chen, Lukas Nics, Jelena Zinnanti, Wolfgang Drexler, Markus Mitterhauser, Thomas Helbich, Wolfgang J. Weninger, Paul Slezak, Anna Obenauf, Katja Buhler, Andreas Walter
MOLECULAR IMAGING AND BIOLOGY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Lydia M. Zopf, Patrick Heimel, Stefan H. Geyer, Anoop Kavirayani, Susanne Reier, Vanessa Frohlich, Alexander Stiglbauer-Tscholakoff, Zhe Chen, Lukas Nics, Jelena Zinnanti, Wolfgang Drexler, Markus Mitterhauser, Thomas Helbich, Wolfgang J. Weninger, Paul Slezak, Anna Obenauf, Katja Buhler, Andreas Walter
Summary: This study established a novel cross-modality imaging platform to characterize tumor vasculature in melanoma cancer, providing comprehensive vascular parameters and allowing quantification and comparison of vessel densities and morphologies. The platform combines well-established technologies with recent modalities to address challenges in integrating microscopic and macroscopic data across spatial resolutions, enabling truly correlative vascular imaging.
MOLECULAR IMAGING AND BIOLOGY
(2021)
Article
Chemistry, Multidisciplinary
Ugur Bozuyuk, Eylul Suadiye, Amirreza Aghakhani, Nihal Olcay Dogan, Jelena Lazovic, Mehmet Efe Tiryaki, Martina Schneider, Alp Can Karacakol, Sinan Ozgun Demir, Gunther Richter, Metin Sitti
Summary: The FePt magnetic coating significantly enhanced both the magnetic performance and biocompatibility of the microrollers, allowing for multimodal medical imaging without additional contrast agents. FePt-coated microrollers demonstrated the ability to move upstream against high flow velocities and showcased great potential for navigation control in the circulatory system for future in vivo applications.
ADVANCED FUNCTIONAL MATERIALS
(2022)
Article
Materials Science, Ceramics
Marin Tadic, Matjaz Panjan, Biljana Vucetic Tadic, Slavko Kralj, Jelena Lazovic
Summary: A porous hematite/alumina nanocomposite with unique nanostructure and magnetic properties is synthesized through sol-gel combustion synthesis. The material shows potential for biomedical applications due to its low cytotoxicity and porous nanostructure.
CERAMICS INTERNATIONAL
(2022)
Article
Materials Science, Ceramics
Marin Tadic, Jelena Lazovic, Matjaz Panjan, Slavko Kralj
Summary: This study reports on a newly observed hierarchical SPIONs nanostructure, known as nanobundles, which possess magnetic and bundle-like morphology. Nanobundles were synthesized through colloidal chemical processes and sol-gel synthesis, where core-shell structured nanoclusters of nanoparticles were formed through magnetic assembly and self-assembly processes. These nanobundles show great potential in various fields such as medical imaging, magnetic separation, photonic crystals, and magnetic liquid manipulation.
CERAMICS INTERNATIONAL
(2022)
Article
Biology
Lukasz Piszczek, Andreea Constantinescu, Dominic Kargl, Jelena Lazovic, Anton Pekcec, Janet R. Nicholson, Wulf Haubensak
Summary: Behavioral strategies require control of impulsive responses, but the neural basis of natural variation in impulsivity between individuals remains unknown. This study identified the subthalamic nucleus as a major hotspot for impulsivity and found that the subthalamic nucleus circuitry multiplexes motor control and trait impulsivity, which are molecularly dissociated by mGlu4.
Article
Multidisciplinary Sciences
Jelena Lazovic, Lydia M. Zopf, Jernej Hren, Martin Gajdos, Marija Slavkovic, Zorana Jovic, Ivana Stankovic, Valentina Matovic, Djuro Koruga
Summary: This research demonstrated the impact of fullerene-filtered light on emotional processing and pain perception, indicating its potential use in stress and pain management.
Article
Chemistry, Multidisciplinary
Martin Francis Phelan, Mehmet Efe Tiryaki, Jelena Lazovic, Hunter Gilbert, Metin Sitti
Summary: A novel design of MRI-driven microcatheter was proposed in this study, achieving miniaturization and reduced power consumption through optimized control strategies. The implementation of a quad-configuration microcoil design demonstrated improved tip motion control and conservation of power during catheter operations.
Article
Materials Science, Multidisciplinary
Mehmet Berk Bilgin, Mehmet Efe Tiryaki, Jelena Lazovic, Metin Sitti
Summary: A self-resonating RF sensor is presented for remote in situ temperature sensing during real-time interventional MRI, tuned to match the resonant frequency of the MRI and enabling 3D position tracking of interventional medical devices.
ADVANCED MATERIALS TECHNOLOGIES
(2022)
Article
Chemistry, Multidisciplinary
Jelena Lazovic, Eberhard Goering, Anna-Maria Wild, Peter Schuetzenduebe, Anitha Shiva, Jessica Loeffler, Gordon Winter, Metin Sitti
Summary: Nanodiamonds have great potential for diverse applications and can be visualized and tracked using non-invasive imaging techniques. They possess paramagnetic properties that enable them to provide high contrast to noise ratio in MRI for cell labeling and tracking.
ADVANCED MATERIALS
(2023)
