Article
Plant Sciences
Marlee A. Trandel, Suzanne Johanningsmeier, Jonathan Schultheis, Chris Gunter, Penelope Perkins-Veazie
Summary: Grafting watermelon onto interspecific squash hybrids can increase fruit firmness and reduce hollow heart incidence; analyzing differences in cell wall polysaccharides can provide insights for preventing hollow heart.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Clinical Neurology
Antonella Muroni, Maria R. Murru, Lucia Ulgheri, Margherita Sechi, Tommaso Ercoli, Francesco Marrosu, Cesa L. Scaglione, Anna Rita Bentivoglio, Martina Petracca, Paola Soliveri, Eleonora Cocco, Stefania Cuccu, Marcello Deriu, Chiara Zuccato, Giovanni Defazio
Summary: The study found that the incidence rate of HD in South Sardinia was significantly higher than in other regions, possibly related to local microgeographic variations. Overall, the incidence of HD in Sardinia is close to estimates in Mediterranean countries.
NEUROLOGICAL SCIENCES
(2021)
Article
Biology
Isabel Gamache, Marc-Andre Legault, Jean-Christophe Grenier, Rocio Sanchez, Eric Rheaume, Samira Asgari, Amina Barhdadi, Yassamin Feroz Zada, Holly Trochet, Yang Luo, Leonid Lecca, Megan Murray, Soumya Raychaudhuri, Jean-Claude Tardif, Marie-Pierre Dube, Julie Hussin
Summary: Pharmacogenomic studies have identified associations between ADCY9 and CETP genes in recent human evolution, potentially due to sex-specific selection, pointing towards a biological link between dalcetrapib's pharmacogene ADCY9 and its therapeutic target CETP.
Article
Public, Environmental & Occupational Health
Valerie Crowell, Richard Houghton, Akanksha Tomar, Tricia Fernandes, Ferdinando Squitieri
Summary: Understanding the epidemiology of Huntington's disease is crucial for assessing disease burden and healthcare resource allocation. A model was developed and validated to estimate the diagnosed prevalence of the disease, with data from 8 countries indicating an estimated 66,787 individuals diagnosed with HD in 2020. The majority of patients were in less severe stages, with diagnosed prevalence rates varying between countries.
Review
Clinical Neurology
Alex Medina, Yasamin Mahjoub, Larry Shaver, Tamara Pringsheim
Summary: Based on updated data, the global incidence and prevalence of Huntington's disease (HD) are estimated to be 0.48 per 100,000 person-years and 4.88 per 100,000 persons, respectively. Europe and North America have significantly higher incidence and prevalence rates compared to Asia and Africa.
MOVEMENT DISORDERS
(2022)
Article
Zoology
Piotr Minias, Wei-Xuan V. -H. Peng, Kevin D. Matson
Summary: This study found a negative association between the levels of natural antibodies and the total MHC gene copy number in avian immune system. This suggests that in bird evolution, a more developed acquired immune system is accompanied by a downregulation of the innate immune system, resulting in an optimal allocation of immune resources.
FRONTIERS IN ZOOLOGY
(2023)
Article
Clinical Neurology
Erin I. McDonnell, Yuanjia Wang, Jill Goldman, Karen Marder
Summary: This study provides allele-specific estimates of HD penetrance for RP allele carriers with different CAG repeat lengths, with 37 repeats being unestimable. Although there were differences by RP-range repeat length, they did not reach significance during the 3-year median follow-up duration among censored individuals.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Kai Grimm, Christine Zuhlke, Christian Gerloff, Simone Zittel
Summary: This study presents a case of Huntington's Disease (HD) with two reduced penetrance alleles, demonstrating similar age of onset and motor symptoms to heterozygous patients with the same number of CAG triplet repeats. Reviewing literature on clinical presentation of homozygous HD cases reveals evidence that HD is indeed a truly dominant disorder, with implications for the disease's pathophysiology concepts.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2021)
Article
Medicine, Research & Experimental
Tobias Kussel, Torben Brenner, Galina Tremper, Josef Schepers, Martin Lablans, Kay Hamacher
Summary: MainSEL is a secure and privacy-preserving record linkage framework that enables statistical feasibility estimations for medical research, especially in the field of rare diseases. It achieves practical runtimes, improved security guarantees, and easy deployment in clinical IT environments. Real-world testing has shown its wide applicability and usefulness for medical researchers.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Review
Biology
T. E. Hector, A. -L M. Gehman, K. C. King
Summary: Global change affects the thermal environment of hosts and parasites, but the relationship between within-host parasite burden and host heat stress tolerance is often weak. This weak link may be explained by the biology of host-parasite systems in hot conditions.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2023)
Article
Medicine, Research & Experimental
Daniel O. Claassen, Rajeev Ayyagari, Debbie Goldschmidt, Mo Zhou, Sam Leo, Rinat Ribalov
Summary: This study estimated the impact of Huntington's disease chorea severity on quality of life using utility values from the general population. The results showed that as chorea severity increased, there was a significant decrease in utility values.
ADVANCES IN THERAPY
(2022)
Article
Ecology
Louise S. Norgaard, Giacomo Zilio, Camille Saade, Claire Gougat-Barbera, Matthew D. Hall, Emanuel A. Fronhofer, Oliver Kaltz
Summary: The study shows that in highly connected populations, parasites may develop different strategies for transmission, which can have an impact on their life history and virulence evolution. Decrypting the eco-evolutionary processes that shape parasite 'dispersal syndromes' may be important for managing spreading epidemics in changing environments, biological invasions, or other spatial non-equilibrium settings.
Article
Urology & Nephrology
Ailish Nimmo, Retha Steenkamp, Rommel Ravanan, Dominic Taylor
Summary: Routine healthcare datasets accurately capture certain medical conditions in patients with advanced chronic kidney disease, but have varying accuracy in identifying specific conditions and may not be sufficient as a single resource for identifying all comorbidities.
Article
History & Philosophy Of Science
Orli Dahan
Summary: Postpartum mood disorders occur in a significant number of women shortly after childbirth and have severe effects. Two evolutionary explanations have been proposed, one suggesting a trade-off in maternal brain changes during pregnancy, and the other attributing the disorders to the mismatch between modern environments and evolutionary adaptations. This paper argues that both explanations overlook the crucial event of childbirth and emphasizes the impact of contemporary childbirth and postpartum environments on women's mental health.
BIOLOGY & PHILOSOPHY
(2023)
Article
Ecology
Yukio Yasui
Summary: In traditional theories, bet-hedging is defined as a trade-off between within-generation fitness and between-generation fitness variance. However, strict interpretation of this definition has caused confusion in empirical research. Therefore, a new definition based on geometric mean fitness is proposed.
ECOLOGICAL RESEARCH
(2022)
Editorial Material
Clinical Neurology
Benjamin R. Wakerley, Mei Hong Tan, Martin R. Turner
Article
Clinical Neurology
Emily Feneberg, Philip D. Charles, Mattea J. Finelli, Connor Scott, Benedikt M. Kessler, Roman Fischer, Olaf Ansorge, Elizabeth Gray, Kevin Talbot, Martin R. Turner
Summary: The study used mass spectrometry with parallel reaction monitoring (MS-PRM) to quantify pathological TDP-43 fragments in the brain of ALS patients. The increased C:N-terminal TDP-43 peptide ratio in ALS patients can distinguish them from controls and other diseases. N-terminal truncation site-specific peptides were elevated in ALS patients and some Alzheimer cases with limbic TDP-43 neuropathological changes.
Article
Clinical Neurology
Alexander G. Thompson, Kevin Talbot, Martin R. Turner
Summary: The study examined the relationship between metabolic parameters and the risk of ALS, revealing that HDL and apoA1 levels are associated with a reduced risk, while total cholesterol:HDL ratio is linked to an increased risk. Models incorporating multiple metabolic markers showed that high levels of LDL or apoB are associated with an increased risk, while higher levels of HDL or apoA are associated with a lower risk. Additionally, coronary artery disease, cerebrovascular disease, and increasing age were also found to be associated with an increased risk of ALS.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Review
Clinical Neurology
Marie Dreger, Robert Steinbach, Markus Otto, Martin R. Turner, Julian Grosskreutz
Summary: ALS is a progressive neurodegenerative disease with limited treatment options. Reliable biomarkers in the cerebrospinal fluid are crucial for disease classification and clinical trial design. While some molecules in the CSF have shown potential as biomarkers, further large-scale studies and validation are needed to advance precision medicine in ALS management.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Editorial Material
Clinical Neurology
Martin R. Turner
PRACTICAL NEUROLOGY
(2022)
Editorial Material
Clinical Neurology
Costa Savva, Martin R. Turner
PRACTICAL NEUROLOGY
(2022)
Review
Clinical Neurology
Thanuja Dharmadasa, Jakub Scaber, Evan Edmond, Rachael Marsden, Alexander Thompson, Kevin Talbot, Martin R. Turner
Summary: A minority of cases of amyotrophic lateral sclerosis (ALS) are caused by genetic variants, making genetic testing important for diagnosis and treatment. However, indiscriminate use of genetic screening can lead to potential harm. Common hereditary cause of ALS, C9ORF72, may also be associated with dementia. All neurologists should have a basic understanding of genetic testing's role in ALS.
PRACTICAL NEUROLOGY
(2022)
Article
Clinical Neurology
Rubika Balendra, Ashley R. Jones, Ahmad Al Khleifat, Theresa Chiwera, Paul Wicks, Carolyn A. Young, Pamela J. Shaw, Martin R. Turner, P. Nigel Leigh, Ammar Al-Chalabi
Summary: ALS is a clinically heterogeneous disease and the King's clinical staging system has been proposed to aid in patient care, research, trial design and health economic analyses. This study validates the King's clinical staging system in four patient groups located in different regions and countries, demonstrating consistent results.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Medicine, General & Internal
Greig Joilin, Elizabeth Gray, Alexander G. Thompson, Kevin Talbot, P. Nigel Leigh, Sarah F. Newbury, Martin R. Turner, Majid Hafezparast
Summary: In this study, we investigated the expression of non-coding RNA transcripts in the cerebrospinal fluid of ALS patients compared to healthy controls. RNA-seq identified dysregulated non-coding RNA transcripts, but these were not validated with RT-qPCR. We conclude that cerebrospinal fluid is not a suitable source of diagnostic biomarkers.
ANNALS OF MEDICINE
(2022)
Review
Clinical Neurology
Michael Benatar, Joanne Wuu, Martin R. Turner
Summary: Interest in ALS biomarkers has increased significantly in the past 25 years, with the hope of using them to develop effective therapies. Neurofilament light chain (NfL) has emerged as a potential biomarker for ALS therapy development. The study discusses the evidence supporting the use of NfL in different clinical contexts, concluding that it can serve as a risk biomarker, a prognostic biomarker, and a pharmacodynamic biomarker.
Article
Clinical Neurology
Hugo M. De Oliveira, Arunachalam Soma, Mark R. Baker, Martin R. Turner, Kevin Talbot, Timothy L. Williams
Summary: There is considerable variation in the practice of genetic testing for patients with sporadic motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) and asymptomatic at-risk relatives in specialized care centers in the UK. Many healthcare professionals feel uncomfortable discussing genetic testing with MND/ALS patients and believe that routine genetic testing is not necessary for all patients with apparently sporadic disease. There are concerns regarding testing asymptomatic at-risk individuals and the majority view is that clinical genetics services should play a role in supporting genetic testing in MND/ALS, especially in asymptomatic individuals at risk of carrying pathogenic variants.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Medicine, General & Internal
Eleanor Wilson, Nicola Turner, Christina Faull, Jonathan Palmer, Martin R. Turner, Scott Davidson
Summary: The aim of this research is to provide new understandings of the experiences of people living with motor neuron disease (plwMND) using tracheostomy ventilation (TV), and those of family members and healthcare professionals (HCPs) involved in their care.
Editorial Material
Clinical Neurology
Rita Sattler, Bryan J. Traynor, Janice Robertson, Ludo Van den Bosch, Sami J. Barmada, Clive N. Svendsen, Matthew D. Disney, Tania F. Gendron, Philip C. Wong, Martin R. Turner, Adam Boxer, Suma Babu, Michael Benatar, Michael Kurnellas, Jonathan D. Rohrer, Christopher J. Donnelly, Lynette M. Bustos, Kendall Van Keuren-Jensen, Penny A. Dacks, Marwan N. Sabbagh
Summary: The summit highlighted the role of the C9ORF72 gene in FTD and ALS, covering disease mechanisms, therapeutic strategies, and biomarkers. Collaborative efforts aimed to break down existing disease silos and proposed composite endpoints for evaluating treatments covering clinical symptoms.
NEUROLOGY AND THERAPY
(2023)
Article
Clinical Neurology
Alexander G. Thompson, Rachael Marsden, Kevin Talbot, Martin R. Turner
Summary: Using routine health screening blood test data, this study found distinct pre-symptomatic biphasic blood cholesterol trajectories in individuals who later developed amyotrophic lateral sclerosis. The findings suggest that metabolic alterations may occur prior to the onset of motor symptoms in this disease. These findings provide further evidence for the importance of monitoring blood cholesterol levels for early detection and potential preventative therapy in amyotrophic lateral sclerosis.
BRAIN COMMUNICATIONS
(2023)
Article
Clinical Neurology
Jennifer C. Davies, Thanuja Dharmadasa, Alexander G. Thompson, Evan C. Edmond, Katie Yoganathan, Jiali Gao, Kevin Talbot, Martin R. Turner
Summary: A reliable biomarker for diagnosing amyotrophic lateral sclerosis (ALS) across different clinical conditions is necessary. Neurofilament light chain levels are correlated with the progression of disability in ALS patients. Previous studies have only compared neurofilament light chain levels in ALS patients with healthy individuals or controls with diagnoses distinct from ALS. In this study, neurofilament light chain levels were measured in ALS patients referred to a specialized clinic, and it was found that neurofilament light chain levels can confirm ALS diagnosis but have limited ability to exclude alternative diagnoses. The current importance of neurofilament light chain is its potential use in stratifying ALS patients by disease activity and as a biomarker in therapeutic trials.
BRAIN COMMUNICATIONS
(2023)