Article
Biology
Cayla E. Jewett, Bailey L. McCurdy, Eileen T. O'Toole, Alexander J. Stemm-Wolf, Katherine S. Given, Carrie H. Lin, Valerie Olsen, Whitney Martin, Laura Reinholdt, Joaquin M. Espinosa, Kelly D. Sullivan, Wendy B. Macklin, Rytis Prekeris, Chad G. Pearson
Summary: Trisomy 21 disrupts primary cilia formation and function through elevated Pericentrin, which affects MyosinVA and EHD1 localization and delays ciliary membrane delivery and mother centriole uncapping. Trisomy 21 cells eventually ciliate, but demonstrate persistent trafficking defects that decrease sonic hedgehog signaling in correlation with Pericentrin levels. Elevated Pericentrin in a mouse model of Down syndrome results in fewer primary cilia and thinner granular layers in the cerebellum, consistent with the neurological phenotypes of individuals with Down syndrome.
Article
Geriatrics & Gerontology
Brian T. Joyce, Xuefen Chen, Kristine Yaffe, Benjamin E. Henkle, Tao Gao, Yinan Zheng, Ravi Kalhan, George Washko, Ken M. Kunisaki, Bharat Thyagarajan, Myron Gross, David R. Jacobs Jr, Donald Lloyd-Jones, Kiang Liu, Stephen Sidney, Lifang Hou
Summary: This study found a prospective association between measures of pulmonary function (PF) and cognition, suggesting that reduced PF is associated with cognitive decline, even at middle ages.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2022)
Article
Clinical Neurology
Jie Zhang, Lingling Li, Renjie Ji, Desheng Shang, Xinrui Wen, Jun Hu, Yingqiao Wang, Dan Wu, Li Zhang, Fangping He, Xiangming Ye, Benyan Luo
Summary: This study utilized NODDI technique to reveal the microstructural characteristics of remote gray matter and thalamic pathways in patients with isolated thalamic stroke. The findings demonstrated neurite loss in remote gray matter regions and thalamic pathways, and also identified the associations between cortical dendritic density, axonal density, and cognitive functions.
TRANSLATIONAL STROKE RESEARCH
(2023)
Review
Biochemistry & Molecular Biology
Angelika Buczynska, Iwona Sidorkiewicz, Anna Trochimiuk, Slawomir Lawicki, Adam Jacek Kretowski, Monika Zbucka-Kretowska
Summary: Research suggests that evaluating novel prenatal screening biomarkers using advanced technology may improve the diagnostic accuracy of biochemical prenatal screening for Trisomy 21, while potentially uncovering new potential medical targets.
Article
Genetics & Heredity
Pascale Kleinfinger, Armelle Luscan, Lea Descourvieres, Daniela Buzas, Aicha Boughalem, Stephane Serero, Mylene Valduga, Detlef Trost, Jean-Marc Costa, Alexandre J. Vivanti, Laurence Lohmann
Summary: This study describes the experience of using noninvasive prenatal testing (NIPT) in a large population of vanishing twin (VT) pregnancies, and finds that it is an effective screening method for trisomy 21 in surviving fetuses. However, caution should be exercised when interpreting positive results for trisomies 18 and 13, and ultrasound monitoring is preferable over invasive diagnostic testing.
Article
Multidisciplinary Sciences
Sunyoung Hwang, Paola Cavaliere, Rui Li, Lihua Julie Zhu, Noah Dephoure, Eduardo M. Torres
Summary: The study reveals that mRNA and protein levels are increased by 1.5-fold on average in trisomy 21 cells, with some proteins enriched for subunits of macromolecular complexes showing signs of post-transcriptional regulation. Additionally, trisomy 21 cells exhibit lower viability and increased dependency on serine-driven lipid synthesis.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Niels Bergsland, Ralph H. B. Benedict, Michael G. Dwyer, Tom A. Fuchs, Dejan Jakimovski, Ferdinand Schweser, Eleonora Tavazzi, Bianca Weinstock-Guttman, Robert Zivadinov
Summary: The study found that compared to healthy controls, multiple sclerosis patients had smaller thalamic nuclei volumes and worse neuroperformance assessments. The various thalamic nuclei showed different levels of correlation with clinical disability, and assessing individual thalamic nuclei volumes can help understand the relationship between thalamic pathology and MS-related disability.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2021)
Article
Multidisciplinary Sciences
Liangjun Chen, Ya Wang, Zhengwang Wu, Yue Shan, Tengfei Li, Sheng-Che Hung, Lei Xing, Hongtu Zhu, Li Wang, Weili Lin, Gang Li
Summary: This study investigates the volumetric development and surface area expansion of six subcortical structures during the first two postnatal years. The results show that each structure undergoes rapid nonlinear growth after birth, which slows down at a structure-specific age. Additionally, there are positive associations between certain subcortical structures and language learning as well as fine motor skills.
NATURE COMMUNICATIONS
(2023)
Article
Immunology
Stephanie James, Robert C. Haight, Cassandra Hanna, Lindsey Furton
Summary: This study aims to understand the level of protection against influenza in adults with Down syndrome following vaccination. The results suggest that adults with Down syndrome had increased antibody concentration but decreased titer to a specific strain of influenza compared to controls. Further research on B- and T-cell function in this population is needed, and high-dose influenza vaccine may benefit them.
Article
Neurosciences
Felix Stroeckens, Kleber Neves, Sina Kirchem, Christine Schwab, Suzana Herculano-Houzel, Onur Guentuerkuen
Summary: Corvids possess cognitive skills comparable to nonhuman primates, which may be attributed to their larger numbers of telencephalic neurons. Specifically, corvids have significantly higher neuron counts in the associative mesopallium and nidopallium compared to chickens and pigeons.
JOURNAL OF COMPARATIVE NEUROLOGY
(2022)
Review
Clinical Neurology
J. Matthijs Biesbroek, Marieke G. Verhagen, Stefan van der Stigchel, Geert Jan Biessels
Summary: This review provides a comprehensive overview of thalamus anatomy and function, with a focus on human cognition and behavior, and discusses emerging insights on the role of thalamus pathology in dementia.
ALZHEIMERS & DEMENTIA
(2023)
Article
Biology
Dylan C. Sarver, Cheng Xu, Susana Rodriguez, Susan Aja, Andrew E. Jaffe, Feng J. Gao, Michael Delannoy, Muthu Periasamy, Yasuhiro Kazuki, Mitsuo Oshimura, Roger H. Reeves, G. William Wong
Summary: This study investigates the impact of aneuploidy on systemic metabolism using a transchromosomic mouse model carrying a near-complete human chromosome 21. The research reveals that mice with extra copies of chromosome 21 exhibit increased calorie intake, hyperactivity, hypermetabolism, and improved insulin sensitivity. The discovery suggests that sarcolipin-mediated thermogenesis can be harnessed to promote energy expenditure and metabolic health.
Article
Clinical Neurology
Brian M. Sandroff, Robert W. Motl, Cristina A. F. Roman, Glenn R. Wylie, John DeLuca, Gary R. Cutter, Ralph H. B. Benedict, Michael G. Dwyer, Robert Zivadinov
Summary: This study provides initial evidence of strong, selective associations among aerobic fitness, cognitive processing speed, and walking endurance in persons with thalamic atrophy as a biomarker for MS-related neurodegeneration. Such data support thalamic atrophy as a moderator of the association among aerobic fitness, cognitive processing speed, and walking endurance in persons with MS. Future research should carefully consider the role of thalamic atrophy when designing trials of aerobic exercise, cognition, and mobility in MS.
JOURNAL OF NEUROLOGY
(2022)
Article
Otorhinolaryngology
Somya Shankar, Annie E. Moroco, Zachary T. Elliott, Maurits Boon, Colin Huntley
Summary: This study retrospectively examined the health outcomes of patients with Trisomy 21 (T21) and obstructive sleep apnea (OSA) 10 years after their diagnosis of OSA. The results showed that patients with T21 and OSA had significantly higher incidence of adverse health outcomes in various cardiovascular, neurological, and endocrinological aspects. Patients who underwent sleep surgery had significantly reduced incidence of adverse health outcomes compared to those using continuous positive airway pressure.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Article
Psychiatry
C. Torenvliet, A. P. Groenman, T. A. Radhoe, J. A. Agelink van Rentergem, W. J. Van der Putten, H. M. Geurts
Summary: Longitudinal studies on cognitive aging in autism are rare and underpowered. In this study, the largest of its kind, no significant differences in cognitive changes were found between autistic and non-autistic adults.
PSYCHIATRY RESEARCH
(2023)
Article
Gastroenterology & Hepatology
Marie Villumsen, Susana Aznar, Bente Pakkenberg, Tine Jess, Tomasz Brudek
Letter
Gastroenterology & Hepatology
Marie Villumsen, Susana Aznar, Bente Pakkenberg, Tomasz Brudek, Tine Jess
Article
Clinical Neurology
Nina Eriksen, Egill Rostrup, Martin Fabricius, Michael Scheel, Sebastian Major, Maren K. L. Winkler, Georg Bohner, Edgar Santos, Oliver W. Sakowitz, Vasilis Kola, Clemens Reiffurth, Jed A. Hartings, Peter Vajkoczy, Johannes Woitzik, Peter Martus, Martin Lauritzen, Bente Pakkenberg, Jens P. Dreier
Article
Behavioral Sciences
Johanne L. Alemu, Frederik Elberling, Bushra Azam, Bente Pakkenberg, Mikkel Olesen
BRAIN AND BEHAVIOR
(2019)
Article
Geriatrics & Gerontology
James C. Perry, Bente Pakkenberg, Seralynne D. Vann
NEUROBIOLOGY OF AGING
(2019)
Article
Clinical Neurology
Karin Forsberg, Karin Graffmo, Bente Pakkenberg, Markus Weber, Martin Nielsen, Stefan Marklund, Thomas Brannstrom, Peter Munch Andersen
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2019)
Article
Critical Care Medicine
Nina Eriksen, Bente Pakkenberg, Egill Rostrup, David O. Okonkwo, Bruce Mathern, Lori A. Shutter, Anthony J. Strong, Johannes Woitzik, Clemens Pahl, Jens P. Dreier, Peter Martus, Martin J. Lauritzen, Martin Fabricius, Jed A. Hartings
NEUROCRITICAL CARE
(2019)
Editorial Material
Anatomy & Morphology
Bente Pakkenberg, Mikkel Vestergaard Olesen, Sanne Simone Kaalund, Karl-Anton Dorph-Petersen
FRONTIERS IN NEUROANATOMY
(2019)
Article
Multidisciplinary Sciences
Rasmus Rydbirk, Betina Elfving, Jonas Folke, Bente Pakkenberg, Kristian Winge, Tomasz Brudek, Susana Aznar
SCIENTIFIC REPORTS
(2019)
Article
Immunology
Jonas Folke, Rasmus Rydbirk, Annemette Lokkegaard, Lisette Salvesen, Anne-Mette Hejl, Charlotte Starhof, Sara Bech, Kristian Winge, Soren Christensen, Lars Ostergaard Pedersen, Susana Aznar, Bente Pakkenberg, Tomasz Brudek
FRONTIERS IN IMMUNOLOGY
(2019)
Article
Clinical Neurology
Elisabeth H. L. Rusholt, Lisette Salvesen, Tomasz Brudek, Betel Tesfay, Bente Pakkenberg, Mikkel V. Olesen
Article
Neurosciences
Sanne Simone Kaalund, Annette Johansen, Katrine Fabricius, Bente Pakkenberg
FRONTIERS IN NEUROSCIENCE
(2020)
Article
Neurosciences
Rasmus Rydbirk, Jonas Folke, Florence Busato, Elodie Roche, Alisha Shahzad Chauhan, Annemette Lokkegaard, Anne-Mette Hejl, Matthias Bode, Morten Blaabjerg, Mette Moller, Erik Hvid Danielsen, Tomasz Brudek, Bente Pakkenberg, Jorg Tost, Susana Aznar
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2020)
Correction
Multidisciplinary Sciences
Rasmus Rydbirk, Jonas Folke, Kristian Winge, Susana Aznar, Bente Pakkenberg, Tomasz Brudek
SCIENTIFIC REPORTS
(2020)
Article
Psychiatry
Anto P. Rajkumar, Per Qvist, Julie G. Donskov, Ross Lazarus, Jonatan Pallesen, Nicoletta Nava, Gudrun Winther, Nico Liebenberg, Sanne H. la Cour, Veerle Paternoster, Tue Fryland, Johan Palmfeldt, Kim Fejgin, Arne Mork, Mette Nyegaard, Bente Pakkenberg, Michael Didriksen, Jens R. Nyengaard, Gregers Wegener, Ole Mors, Jane H. Christensen, Anders D. Borglum
TRANSLATIONAL PSYCHIATRY
(2020)
Article
Neurosciences
Yang He, Jun Tang, Meng Zhang, Junjie Ying, Dezhi Mu
Summary: This study investigated the protective effects and mechanisms of human placenta derived mesenchymal stem cells (hPMSCs) transplantation in a rat model of hypoxic-ischemic encephalopathy (HIE). The results showed that hPMSCs transplantation reduced apoptosis and improved long-term neurological prognosis. Furthermore, the downregulation of Sema 3A/NRP-1 expression and activation of the PI3K/Akt/mTOR signaling pathway played a key role in the protective effects of hPMSCs.
Article
Neurosciences
Emily L. Isenstein, Edward G. Freedman, Jiayi Xu, Ian A. DeAndrea-Lazarus, John J. Foxe
Summary: This study evaluated electrophysiological discrimination of parametric somatosensory stimuli in healthy young adults to understand how the brain processes the duration of tactile information. The results showed that participants did not electrophysiologically discriminate between 100 and 115 ms, but they exhibited distinct electrophysiological responses when the deviant stimuli were 130, 145, and 160 ms. These findings contribute to a better understanding of tactile sensitivity in different clinical conditions.
Article
Neurosciences
Juliana R. Souza, Ludmila Lima-Silveira, Daniela Accorsi-Mendonca, Benedito H. Machado
Summary: This study demonstrates that A2A receptors play a crucial role in modulating synaptic transmission in the NTS neurons and are required for the enhancement of glutamatergic transmission observed under short-term sustained hypoxia conditions.
Article
Neurosciences
Miki Hashizume, Rina Ito, Rie Suge, Yasushi Hojo, Gen Murakami, Takayuki Murakoshi
Summary: The basolateral amygdaloid complex (BLA) is closely involved in the formation of emotional memories, including both aversive memory and contextual fear memory. Acute sleep deprivation (SD) disrupts the acquisition of tone-associated fear memory in juvenile rats, but has no significant effect on contextual fear memory. Slow network oscillation in the amygdala contributes to the formation of amygdala-dependent fear memory in relation to sleep.
Article
Neurosciences
Qunxian Wang, Shipeng Guo, Dongjie Hu, Xiangjun Dong, Zijun Meng, Yanshuang Jiang, Zijuan Feng, Weihui Zhou, Weihong Song
Summary: GSDME plays a crucial role in the pathogenesis of Alzheimer's disease by regulating the switch from apoptosis to pyroptosis and participating in neuroinflammatory response. Knockdown of GSDME has been shown to improve cognitive impairments, indicating that GSDME could be a therapeutic target for Alzheimer's disease.