Article
Clinical Neurology
Claire Lefeuvre, Marie De Antonio, Francoise Bouhour, Celine Tard, Emmanuelle Salort-Campana, Emmeline Lagrange, Anthony Behin, Guilhem Sole, Jean-Baptiste Noury, Sabrina Sacconi, Armelle Magot, Aleksandra Nadaj-Pakleza, Arnaud Lacour, Stephane Beltran, Marco Spinazzi, Pascal Cintas, Dimitri Renard, Maud Michaud, Anne-Laure Bedat-Millet, Helene Prigent, Nadjib Taouagh, Azzeddine Arrassi, Dalil Hamroun, Shahram Attarian, Pascal Laforet, Pompe Study Grp
Summary: This study provides an update on the clinical and biological features of patients with late-onset Pompe disease in the French registry. The findings suggest that the disease is now diagnosed earlier and with lower clinical severity. The 6-minute walk test remains an important method for assessing motor performance and walking ability. The French registry provides a comprehensive overview of Pompe disease in the country and can be used to evaluate responses to future treatments.
Review
Pediatrics
Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang
Summary: Infants with intrauterine-onset Pompe disease usually exhibit early symptoms of heart disease. Prompt enzyme activity determination and genetic testing are helpful in decision making and treatment planning.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Review
Clinical Neurology
Daniele Mandia, Natalia Shor, Jean-Francois Benoist, Yann Nadjar
Summary: Vitamin-responsive neurogenetic diseases are rare conditions that are potentially underdiagnosed in adults and may show a dramatic response to treatment if detected early. This review outlines the key features of adult-onset forms and provides simple key messages to aid in the timely diagnosis and treatment of these conditions.
Article
Biotechnology & Applied Microbiology
Simon Strobbe, Jana Verstraete, Christophe Stove, Dominique Van Der Straeten
Summary: Rice is a major food crop for half of the human population, but the starchy endosperm lacks essential micronutrients like thiamin. Through tissue-specific metabolic engineering, researchers were able to increase thiamin levels in polished rice by up to threefold, demonstrating the potential for future biofortification efforts.
PLANT BIOTECHNOLOGY JOURNAL
(2021)
Article
Psychiatry
Derin Cobia, Chaz Rich, Matthew J. Smith, Pedro Engel Gonzalez, Will Cronenwett, John G. Csernansky, Lei Wang
Summary: Early-onset schizophrenia (EOS) and adult-onset schizophrenia (AOS) both exhibit thalamic shape abnormalities, but EOS has more severe abnormalities. These thalamic abnormalities are related to the clinical and cognitive aspects of the illness.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Genetics & Heredity
Ludwig Haydock, Alexandre P. Garneau, Laurence Tremblay, Hai-Yun Yen, Hanlin Gao, Raphael Harrisson, Paul Isenring
Summary: The prevalence of known causative or risk-associated variants in adult-onset aHUS and C3G is lower than 30 to 50%, but extended exome panels and in vitro analyses can identify novel variants of potential clinical significance and candidate genes.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2022)
Article
Biochemistry & Molecular Biology
Heraldo Mendes Garmes, Alejandro Rosell Castillo, Sarah Monte Alegre, Aglecio Luiz de Souza, Yeelen Ballesteros Atala, Denise Engelbrecht Zantut-Wittmann
Summary: The pattern of insulin sensitivity in patients with GH deficiency (GHD) is contradictory, and this study assessed the insulin sensitivity and body composition in adults with hypopituitarism. It was found that patients with childhood-onset GHD showed higher insulin sensitivity compared to controls, while patients with adulthood-onset GHD had similar insulin sensitivity as the control group.
Article
Biochemistry & Molecular Biology
Shulan Qiu, Sijia He, Jianing Wang, Hu Wang, Anindita Bhattacharjee, Xin Li, Moawiz Saeed, Jeffrey L. Dupree, Xianlin Han
Summary: The interaction between obesity and central nervous system (CNS) neurological dysfunction is well recognized. Evidence shows that obesity is a risk factor for CNS neuroinflammation and cognitive impairment. This study investigates how CNS sulfatide deficiency affects peripheral metabolism, considering sex- and age-specific effects. Results show that female sulfatide-deficient mice gained more body weight, had higher basal glucose levels, and were glucose intolerant compared to controls, while male sulfatide-deficient mice only showed glucose intolerance at a later age compared to females. Increased body weight was associated with increased food intake and elevated neuroinflammation in a sex-specific manner, suggesting that CNS sulfatide deficiency leads to sex-specific alterations in energy homeostasis via dysregulated hypothalamic control of food intake.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Rheumatology
Louise Gillard, Jacques Pouchot, Fleur Cohen-Aubart, Isabelle Kone-Paut, Gael Mouterde, Martin Michaud, Heloise Reumaux, Lea Savey, Alexandre Belot, Bruno Fautrel, Stephane Mitrovic
Summary: JAKi agents can be considered as a therapeutic option for difficult-to-treat Still's disease, especially for patients with partial response to medium- or high-dose corticosteroids or biologics.
Article
Biotechnology & Applied Microbiology
Irina Arnaoutova, Lisa Zhang, Hung-Dar Chen, Brian C. Mansfield, Janice Y. Chou
Summary: This study utilized CRISPR/Cas9 gene editing technology to correct a prevalent pathogenic variant in GSD-Ia patients, successfully treating a mouse model and demonstrating potential long-term efficacy.
Article
Agricultural Engineering
Wenjie Yu, Litao Zhang, Jing Zhao, Jianguo Liu
Summary: A new strategy of combining exogenous sodium fumarate with nitrogen deficiency was demonstrated to promote astaxanthin accumulation in Haematococcus pluvialis. Sodium fumarate significantly accelerated astaxanthin synthesis and increased respiratory metabolites, leading to improved astaxanthin production.
BIORESOURCE TECHNOLOGY
(2021)
Article
Immunology
Yasuaki Hirooka, Saki Okuda, Masafumi Sugiyama, Toshihiko Shiga, Yuji Nozaki, Koji Kinoshita, Masanori Funauchi, Itaru Matsumura
Summary: Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder characterized by recurrent fever, rash, arthralgia, and leukocytosis. This article presents a rare case of an 80-year-old Japanese woman who developed arthralgia, fever, and skin rash during treatment for systemic lupus erythematosus (SLE), which was diagnosed as an overlap of AOSD.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Rheumatology
Stephane Mitrovic, Nolan Hassold, Aly Kamissoko, Nicolas Rosine, Alexis Mathian, Guillaume Mercy, Edouard Pertuiset, Gaetane Nocturne, Bruno Fautrel, Isabelle Kone-Paut
Summary: A retrospective national survey revealed features of SpA in patients with SJIA/AOSD, with a prevalence of 6.58% in AOSD patients and 10% in SJIA patients. This suggests a possible overlap between SpA and AOSD that requires further study.
Article
Clinical Neurology
Isabell Cordts, Luisa Semmler, Jannik Prasuhn, Annette Seibt, Diran Herebian, Tharsini Navaratnarajah, Joohyun Park, Natalie Deininger, Lucia Laugwitz, Sophia L. Goericke, Paul Lingor, Norbert Brueggemann, Alexander Muenchau, Matthis Synofzik, Dagmar Timmann, Johannes A. Mayr, Tobias B. Haack, Felix Distelmaier, Marcus Deschauer
Summary: Bi-allelic variants in the COQ4 gene were found to cause an adult-onset ataxia-spasticity spectrum phenotype, and the disease course was milder than previously reported.
MOVEMENT DISORDERS
(2022)
Article
Obstetrics & Gynecology
Zhenhong Ye, Chunmei Zhang, Yue Zhao
Summary: The study revealed that adropin concentrations in both plasma and follicular fluid were lower in PCOS patients, possibly impacting the development of insulin resistance and abnormal branched-chain amino acid metabolism. The association between adropin concentrations and hyperandrogenaemia in PCOS may be mediated through SHBG. This suggests that decreased adropin concentrations are linked to metabolic abnormalities in PCOS patients.
REPRODUCTIVE BIOMEDICINE ONLINE
(2021)
Article
Genetics & Heredity
Chun-An Chen, Danielle G. M. Bosch, Megan T. Cho, Jill A. Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G. Monaghan, Frances Elmslie, Ganka Douglas, F. Nienke Boonstra, Francisca Milian, Frans P. M. Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane-Yeboa, Elfrida Malkin, Wendy K. Chung, Dmitriy Niyazov, Juan M. Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M. Hisama, Bert B. A. de Vries, Christian Schaaf
GENETICS IN MEDICINE
(2016)
Article
Multidisciplinary Sciences
Simon J. Beck, Lan Guo, Aarron Phensy, Jing Tian, Lu Wang, Neha Tandon, Esha Gauba, Lin Lu, Juan M. Pascual, Sven Kroener, Heng Du
NATURE COMMUNICATIONS
(2016)
Article
Radiology, Nuclear Medicine & Medical Imaging
Sergey Cheshkov, Ivan E. Dimitrov, Vikram Jakkamsetti, Levi Good, Dorothy Kelly, Karthik Rajasekaran, Ralph J. DeBerardinis, Juan M. Pascual, A. Dean Sherry, Craig R. Malloy
MAGNETIC RESONANCE IN MEDICINE
(2017)
Article
Endocrinology & Metabolism
Fang Xie, Yin Xi, Juan M. Pascual, Otto Muzik, Fangyu Peng
METABOLIC BRAIN DISEASE
(2017)
Article
Neurosciences
Catherine J. Stoodley, Anila M. D'Mello, Jacob Ellegood, Vikram Jakkamsetti, Pei Liu, Mary Beth Nebel, Jennifer M. Gibson, Elyza Kelly, Fantao Meng, Christopher A. Cano, Juan M. Pascual, Stewart H. Mostofsky, Jason P. Lerch, Peter T. Tsai
NATURE NEUROSCIENCE
(2017)
Editorial Material
Neurosciences
Juan M. Pascual
NEUROSCIENCE LETTERS
(2017)
Article
Clinical Neurology
Tyler Terrill, Juan M. Pascual
PEDIATRIC NEUROLOGY
(2017)
Article
Clinical Neurology
Jian Hao, Dorothy I. Kelly, Jianzhong Su, Juan M. Pascual
Article
Mathematics, Applied
Honghui Zhang, Jianzhong Su, Qingyun Wang, Yueming Liu, Levi Good, Juan M. Pascual
COMMUNICATIONS IN NONLINEAR SCIENCE AND NUMERICAL SIMULATION
(2018)
Correction
Neurosciences
Catherine J. Stoodley, Anila M. D'Mello, Jacob Ellegood, Vikram Jakkamsetti, Pei Liu, Mary Beth Nebel, Jennifer M. Gibson, Elyza Kelly, Fantao Meng, Christopher A. Cano, Juan M. Pascual, Stewart H. Mostofsky, Jason P. Lerch, Peter T. Tsai
NATURE NEUROSCIENCE
(2018)
Article
Biochemistry & Molecular Biology
Katrina Meyer, Marieluise Kirchner, Bora Uyar, Jing-Yuan Cheng, Giulia Russo, Luis R. Hernandez-Miranda, Anna Szymborska, Henrik Zauber, Ina-Maria Rudolph, Thomas E. Willnow, Altuna Akalin, Volker Haucke, Holger Gerhardt, Carmen Birchmeier, Ralf Kuehn, Michael Krauss, Sebastian Diecke, Juan M. Pascual, Matthias Selbach
Article
Anesthesiology
S. Sinmyee, V. J. Pandit, J. M. Pascua, A. Dahan, T. Heidegger, G. Kreienbuehl, D. A. Lubarsky, J. J. Pandit
Article
Cell Biology
Vikram Jakkamsetti, Isaac Marin-Valencia, Qian Ma, Levi B. Good, Tyler Terrill, Karthik Rajasekaran, Kumar Pichumani, Chalermchai Khemtong, M. Ali Hooshyar, Chandrasekhar Sundarrajan, Mulchand S. Patel, Robert M. Bachoo, Craig R. Malloy, Juan M. Pascual
SCIENCE TRANSLATIONAL MEDICINE
(2019)
Article
Cell Biology
Min Ni, Ashley Solmonson, Chunxiao Pan, Chendong Yang, Dan Li, Ashley Notzon, Ling Cai, Gerardo Guevara, Lauren G. Zacharias, Brandon Faubert, Hieu S. Vu, Lei Jiang, Bookyung Ko, Noriko Merida Morales, Jimin Pei, Goncalo Vale, Dinesh Rakheja, Nick V. Grishin, Jeffrey G. McDonald, Garrett K. Gotway, Markey C. McNutt, Juan M. Pascual, Ralph J. DeBerardinis
Article
Genetics & Heredity
Sailaja Golla, Jimin Ren, Craig R. Malloy, Juan M. Pascual
NEUROLOGY-GENETICS
(2017)