Article
Pediatrics
Katarzyna Jonczyk-Potoczna, Jakub Potoczny, Aleksandra Szczawinska-Poplonyk
Summary: This study retrospectively analyzed the use of ultrasound and MRI in the diagnosis and monitoring of 11 pediatric A-T patients. The results showed that these imaging techniques were effective in detecting abnormalities in the liver, lungs, and lymph nodes. Ultrasound and MRI are safe and recommended imaging tools for monitoring children with IEI and DNA instability syndromes.
FRONTIERS IN PEDIATRICS
(2022)
Article
Biology
Harvey Perez, May F. Abdallah, Jose Chavira, Angelina S. Norris, Martin T. Egeland, Karen L. Vo, Callan L. Buechsenschuetz, Valentina Sanghez, Jeannie L. Kim, Molly Pind, Kotoka Nakamura, Geoffrey G. Hicks, Richard A. Gatti, Joaquin Madrenas, Michelina Iacovino, Peter J. McKinnon, Paul J. Mathews
Summary: By introducing null mutations in both the Atm and Aptx genes in mice, researchers have created a novel mouse model that exhibits progressively severe ataxic phenotype and cerebellar molecular layer atrophy. The perturbations significantly alter the biophysical properties of cerebellar Purkinje neurons and their neural activity, correlating with cerebellar atrophy and ataxia over the animal's first year of life. Additionally, the double mutant mice also show a predisposition to cancer and immune abnormalities, resembling symptoms of A-T.
Article
Radiology, Nuclear Medicine & Medical Imaging
Felipe S. Furtado, Nathaniel D. Mercaldo, Thomas Vahle, Thomas Benkert, William R. Bradley, Lisa Ratanaprasatporn, Ravi Teja Seethamraju, Mukesh G. Harisinghani, Susanna Lee, Krista Suarez-Weiss, Lale Umutlu, Ciprian Catana, Kelsey L. Pomykala, Liran Domachevsky, Hanna Bernstine, David Groshar, Bruse R. Rosen, Onofrio Antonio Catalano
Summary: This study compared standard (STD-DWI) single-shot echo-planar imaging DWI and simultaneous multislice (SMS) DWI during whole-body positron emission tomography (PET)/MRI in terms of acquisition time, image quality, and lesion detection. The results showed that SMS-DWI shortened the acquisition time and maintained or improved the diagnostic yield in most anatomical regions. Therefore, SMS-DWI has important clinical application prospects in cancer staging and restaging.
EUROPEAN RADIOLOGY
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Xiangwen Li, Yiwen Hu, Yuxue Xie, Rong Lu, Qing Li, Hongyue Tao, Shuang Chen
Summary: Histogram metrics from diffusion-weighted imaging (DWI) and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) were found to be significantly correlated with HIF-1alpha expression in soft tissue sarcoma (STS).
EUROPEAN RADIOLOGY
(2023)
Article
Neurosciences
Sang Seok Yeo, Seo Yoon Park, In Hee Cho
Summary: In this study, the authors used diffusion tensor imaging (DTI) to investigate the injury of the vestibulocerebellar tract (VCT) in a patient with intracerebral hemorrhage (ICH). They found that the patient's ataxia may be related to the injury of the VCT. This study provides important insights for evaluating and managing patients with ataxia following cerebellar injury.
NEUROSCIENCE LETTERS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Qi Zhang, Xiaoduo Yu, Han Ouyang, Jieying Zhang, Shuang Chen, Lizhi Xie, Xinming Zhao
Summary: Whole-tumor texture analysis using diffusion kurtosis imaging can be effective in differentiating cervical cancer subtypes and grading SCC.
EUROPEAN RADIOLOGY
(2021)
Article
Medicine, General & Internal
Sang-Seok Yeo, Seung-Min Nam, In-Hee Cho
Summary: This study aimed to compare cerebellar dysfunction according to vestibulocerebellar tract (VCT) damage in patients with cerebellar stroke. Ataxia was found to be related to secondary VCTs, and hand dysfunction was also related to VCTs.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Neurosciences
Jing Guo, Zhouyu Jiang, Xinyuan Liu, Haoru Li, Bharat B. Biswal, Bo Zhou, Wei Sheng, Qing Gao, Hui Chen, Yunshuang Fan, Wenyan Zhu, Jian Wang, Huafu Chen, Chen Liu
Summary: This study identified alterations in cerebello-cerebral functional connectivity in patients with SCA3 and found associations with cerebellar atrophy, disease severity, and cognitive impairment.
HUMAN BRAIN MAPPING
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Yuki Arita, Soichiro Yoshida, Yuma Waseda, Taro Takahara, Chikako Ishii, Ryo Ueda, Thomas C. Kwee, Kei Miyahira, Ryota Ishii, Shigeo Okuda, Masahiro Jinzaki, Yasuhisa Fujii
Summary: The study found that computed diffusion-weighted imaging (cDWI) in biparametric whole-body MRI (bpWB-MRI) showed high diagnostic performance for primary prostate cancer (PCa) evaluation, similar to dedicated pelvic bpMRI(2000). It is recommended to implement cDWI in standard WB-MRI protocols for the concurrent detection of primary and metastatic PCa.
EUROPEAN JOURNAL OF RADIOLOGY
(2021)
Article
Neurosciences
Vishwa Rawat, Ritu Tyagi, Inder Singh, Prasenjit Das, Achal Kumar Srivastava, Govind K. Makharia, Uma Sharma
Summary: Gluten ataxia, a rare immune-mediated neurological disorder, causes damage to the cerebellum and is characterized by reduced levels of neuro-metabolites and structural changes in the brain. This study compared the neurochemical profile and brain structure of gluten ataxia patients with healthy controls using magnetic resonance imaging and spectroscopy. The results showed lower neuro-metabolite levels and reduced brain volumes in gluten ataxia patients compared to healthy controls. The findings suggest neuronal degeneration and indicate that MRI and MRS can be valuable non-invasive tools for early diagnosis and management of gluten ataxia.
FRONTIERS IN HUMAN NEUROSCIENCE
(2022)
Article
Neurosciences
Simon Deacon, William Dalleywater, Charles Peat, Simon M. L. Paine, Rob A. Dineen
Summary: Cerebellar neurodegeneration is a prominent feature of ataxia telangiectasia (A-T) caused by loss-of-function mutation of the ATM gene. The study found elevated transcription of ATM in the cerebellar cortex compared to other brain regions during neurodevelopment in individuals without A-T, suggesting the importance of intact ATM function in the cerebellum. Gene ontology analysis revealed that ATM expression in the cerebellum is associated with various biological processes, including cellular respiration, mitochondrial function, histone methylation, and cell-cycle regulation, in addition to its canonical role in DNA repair.
Review
Medicine, General & Internal
Domenico Albano, Giuseppe Micci, Caterina Patti, Federico Midiri, Silvia Albano, Giuseppe Lo Re, Emanuele Grassedonio, Ludovico La Grutta, Roberto Lagalla, Massimo Galia
Summary: Whole-body MRI plays a significant role in the diagnosis of lymphoma, offering advantages in staging, treatment response assessment, and monitoring of different lymphoma subtypes.
Article
Radiology, Nuclear Medicine & Medical Imaging
Domenico Albano, Alessandro Stecco, Giuseppe Micci, Luca Maria Sconfienza, Stefano Colagrande, Alfonso Reginelli, Roberto Grassi, Alessandro Carriero, Massimo Midiri, Roberto Lagalla, Massimo Galia
Summary: Based on a survey among members of the Italian Society of Medical and Interventional Radiology, whole-body MRI (WB-MRI) is mainly used for lymphoma, myeloma, and prostate cancer in oncologic patients in Italy. There is significant variability in imaging protocols and contrast agent use among different centers, highlighting the need for standardization in WB-MRI application.
Article
Anatomy & Morphology
Alpen Ortug, Neslihan Yuzbasioglu, Nejat Akalan, Jacob Levman, Emi Takahashi
Summary: This study utilized HARDI tractography to evaluate the effects of posterior fossa tumors on cerebellar peduncles and reconstructed pathways. Significant differences in tract volume were found between preoperative/postoperative, preoperative/control, and postoperative/control comparisons. The displacement and disruption of pathways varied with tumor severity. Low-grade tumors showed higher ADC values but no FA differences, while high-grade tumors showed no differences in both ADC and FA.
Article
Clinical Neurology
Lara Fernandez, Louise A. Corben, Hiba Bilal, Martin B. Delatycki, Gary F. Egan, Ian H. Harding
Summary: The extent of neurodegeneration and neuroinflammation in Friedreich ataxia (FRDA) can be quantified using novel neuroimaging approaches. This study found that measures of free-water in the brain can effectively distinguish FRDA patients from controls, with the greatest differences observed in the brainstem and cerebellum.
MOVEMENT DISORDERS
(2023)
Article
Medicine, General & Internal
Ali Eqbal, Alicia Martin, James D. Doecke, Desmond Patrick
Summary: This study evaluated the short-term efficacy and safety of low-dose therapeutic drug-monitored (TDM) thioguanine in patients with inflammatory bowel disease. The results showed that thioguanine was well tolerated in 63% of patients, with a clinical response rate of 62% and a high maintenance of remission rate at 76%.
INTERNAL MEDICINE JOURNAL
(2023)
Article
Developmental Biology
Kirat K. K. Chand, Kerstin Pannek, Paul B. B. Colditz, Julie A. A. Wixey
Summary: Fetal growth restriction (FGR) is associated with long-term neurodevelopmental disabilities, but the mechanisms are still unknown and there are no current therapies to protect the FGR newborn brain. Piglets, which naturally develop FGR, serve as an ideal animal model to study how perinatal insults affect brain structure and function without the need for surgical or chemical intervention. Findings from FGR piglet studies may provide critical information to develop neuroprotective interventions for newborn babies.
DEVELOPMENTAL NEUROSCIENCE
(2022)
Article
Clinical Neurology
Pratishtha Chatterjee, Steve Pedrini, James D. Doecke, Rohith Thota, Victor L. Villemagne, Vincent Dore, Abhay K. Singh, Penghao Wang, Stephanie Rainey-Smith, Christopher Fowler, Kevin Taddei, Hamid R. Sohrabi, Mark P. Molloy, David Ames, Paul Maruff, Christopher C. Rowe, Colin L. Masters, Ralph N. Martins
Summary: This study investigated the changes in several blood biomarkers across the AD continuum and their associations with cognitive decline and brain Aβ-PET load. The results showed that plasma Aβ1-42/Aβ1-40 ratio decreased, p-tau181 and GFAP increased in predicting the β-amyloid positive/negative status across the AD continuum.
ALZHEIMERS & DEMENTIA
(2023)
Article
Gastroenterology & Hepatology
Sally Mortlock, Anton Lord, Grant Montgomery, Martha Zakrzewski, Lisa A. Simms, Krupa Krishnaprasad, Katherine Hanigan, James D. Doecke, Alissa Walsh, Ian C. Lawrance, Peter A. Bampton, Jane M. Andrews, Gillian Mahy, Susan J. Connor, Miles P. Sparrow, Sally Bell, Timothy H. Florin, Jakob Begun, Richard B. Gearry, Graham L. Radford-Smith
Summary: This study identified genetic loci associated with medically refractory ulcerative colitis (UC) through a genome wide association analysis. The findings suggest different genetic risk factors for medically refractory UC compared to non-medically refractory UC. Further research may uncover additional loci related to disease severity.
JOURNAL OF CROHNS & COLITIS
(2023)
Article
Biochemistry & Molecular Biology
Maxime Francois, Avinash Karpe, Jian-Wei Liu, David J. Beale, Maryam Hor, Jane Hecker, Jeff Faunt, John Maddison, Sally Johns, James D. Doecke, Stephen Rose, Wayne R. Leifert
Summary: The metabolomic and proteomic basis of mild cognitive impairment (MCI) and Alzheimer's disease (AD) is not well understood. This study examined the plasma samples of individuals with MCI or AD, as well as age- and gender-matched cognitively normal individuals, to identify cellular pathways and biomarkers associated with the diseases. The analysis revealed specific proteins that distinguish AD from MCI and cognitively normal groups, and identified various metabolic pathways affected in AD. These findings contribute to the understanding of the diseases and may be useful for future clinical trials.
Article
Clinical Neurology
Xin Huang, Yihan Li, Christopher Fowler, James D. Doecke, Yen Ying Lim, Candace Drysdale, Vicky Zhang, Keunha Park, Brett Trounson, Kelly Pertile, Rebecca Rumble, John W. Pickering, Robert A. Rissman, Floyd Sarsoza, Sara Abdel-Latif, Yong Lin, Vincent Dore, Victor Villemagne, Christopher C. Rowe, Jurgen Fripp, Ralph Martins, James S. Wiley, Paul Maruff, Jacobo E. Mintzer, Colin L. Masters, Ben J. Gu
Summary: This study examined leukocyte antigens in sporadic Alzheimer's disease (AD) and identified differentially expressed markers. A proposed panel of four leukocyte markers showed high predictive accuracy for PET A beta status. These findings were validated in independent cohorts, demonstrating the utility of leukocyte-based biomarkers for AD screening and diagnosis.
ALZHEIMERS & DEMENTIA
(2023)
Article
Biochemical Research Methods
Licai Huang, James P. Long, Ehsan Irajizad, James D. Doecke, Kim-Anh Do, Min Jin Ha
Summary: This study introduces a mediation analysis framework for multilevel molecular tumor profiling, which can handle various types of outcome variables and is suitable for high-throughput molecular profiling data. By analyzing kidney renal clear cell carcinoma proteogenomic data, genes that are mediated by proteins and the underlying mechanisms for various survival outcomes are identified, capturing disease-specific clinical characteristics in both short and long-term.
Article
Neurosciences
Charisse N. Winston, Oliver Langford, Natalie Levin, Rema Raman, Kevin Yarasheski, Tim West, Sara Abdel-Latif, Michael Donohue, Akinori Nakamura, Kenji Toba, Colin L. Masters, James Doecke, Reisa A. Sperling, Paul S. Aisen, Robert A. Rissman
Summary: The study aimed to determine whether a blood-based screening test can accurately identify patients' amyloid burden and improve screening efficiency. The results showed that plasma A beta (42)/A beta (40) is the best biomarker for predicting amyloid accumulation in the brain, and blood samples processed within 2 hours after collection had better predictive performance.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Neurosciences
Alex M. Pagnozzi, Liza van Eijk, Kerstin Pannek, Roslyn N. Boyd, Susmita Saha, Joanne George, Samudragupta Bora, DanaKai Bradford, Michael Fahey, Michael Ditchfield, Atul Malhotra, Helen Liley, Paul B. Colditz, Stephen Rose, Jurgen Fripp
Summary: Infants born very preterm face neurodevelopmental challenges and early identification through clinical assessment and MRI can enable targeted interventions. This study used a prospective cohort of preterm infants and identified early MRI biomarkers for neurodevelopmental outcomes using advanced imaging techniques. The results demonstrated the utility of MRI prior to term equivalent age for predicting outcomes and initiating early interventions.
Article
Pediatrics
Alex M. Pagnozzi, Kerstin Pannek, Jurgen Fripp, Simona Fiori, Roslyn N. Boyd, Stephen Rose
Summary: This study used a pathology-robust technique to extract quantitative structural information from brain MRI images and correlated it with motor, behavioral, visual, and communicative function in children with acquired brain injury. The results showed significant associations between brain structure and motor and cognitive function, as well as overall reductions in grey matter volume and cortical thinning in the ABI cohort. This suggests that MRI can estimate the long-term clinical prognosis of children with acquired brain injury.
PEDIATRICS AND NEONATOLOGY
(2023)
Article
Multidisciplinary Sciences
Olga Laporta-Hoyos, Kerstin Pannek, Alex M. Pagnozzi, Simona Fiori, Roslyn N. Boyd
Summary: This study explored the association between receptive vocabulary and white-matter microstructure in children with cerebral palsy. The results showed a significant association between receptive vocabulary scores and the white matter microstructure in the left temporal lobe. This study highlights the importance of interhemispheric connections for receptive vocabulary.
Article
Medicine, General & Internal
Catherine Morgan, Nadia Badawi, Roslyn N. Boyd, Alicia J. Spittle, Russell C. Dale, Adrienne Kirby, Rod W. Hunt, Koa Whittingham, Kerstin Pannek, Rachael L. Morton, William Tarnow-Mordi, Michael C. Fahey, Karen Walker, Kristina Prelog, Catherine Elliott, Jane Valentine, Andrea Guzzetta, Shannon Olivey, GAME Study Team, Iona Novak
Summary: This is a randomized controlled trial on early intervention for cerebral palsy (CP) children. The trial aims to investigate the efficacy of an early and sustained Goals-Activity-Motor Enrichment approach on improving motor and cognitive skills in infants with suspected or confirmed CP. The study requires 150 participants per group and the outcomes will be disseminated through peer-reviewed journal publications, international conferences, and consumer websites.
Article
Clinical Neurology
Matteo Senesi, Victoria Lewis, Shiji Varghese, Christiane Stehmann, Amelia McGlade, James D. Doecke, Laura Ellett, Shannon Sarros, Christopher J. Fowler, Colin L. Masters, Qiao-Xin Li, Steven J. Collins
Summary: The most frequently used biomarkers for pre-mortem clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) include concentrations of the 14-3-3 and total tau (T-tau) proteins, as well as the application of protein amplification techniques. Combining the results of these three cerebrospinal fluid biomarkers can increase the sensitivity and accuracy in diagnosing sCJD before death, providing the best chance for early detection.
FRONTIERS IN NEUROLOGY
(2023)
Article
Pediatrics
Tiziana Controzzi, Francesca Chesi, Rosa Teresa Scaramuzzo, Matteo Giampietri, Riccardo Morganti, Simona Fiori, Elena Moretti, Luna Gargani, Luca Filippi
Summary: This study investigated the use of lung ultrasound (LUS) in assessing the development of feeding competence in a cohort of 19 newborns <32 weeks of age. The results showed no significant difference in LUS scoring before and after eating. The achievement of full enteral feeding was correlated with gestational age at birth, but not with LUS scoring. The introduction of the first meal by bottle was correlated with both gestational age and ultrasound scores. The LUS score at 7 days of life was predictive of the length of respiratory support and oxygen supply, while the LUS score at 48 hours of life was not predictive.
FRONTIERS IN PEDIATRICS
(2023)