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JOURNAL ARTICLE
Fernanda Mesa-Chavez, Yanin Chavarri-Guerra, Dione Aguilar-Y-Mendez, Andrea Becerril-Gaitan, Bryan F Vaca-Cartagena, Araceli Carrillo-Bedoya, Salvador Santiesteban-González, Alejandro Aranda-Gutierrez, Andrés Rodríguez-Faure, Daniela Obregon-Leal, Gregorio Quintero-Beuló, Jose L Rodriguez-Olivares, Melina Miaja, Jeffrey N Weitzel, Cynthia Villarreal-Garza
PURPOSE: Genetic cancer risk assessment (GCRA) provides pathogenic variant (PV) carriers with the invaluable opportunity to undertake timely cancer risk-reducing (RR) measures and initiate cascade testing (CT). This study describes the uptake of these strategies and the related barriers among breast cancer-associated germline PV carriers in Mexico. METHODS: Carriers who were at least 6 months after disclosure of genetic test results at two GCRA referral centers were invited to answer a survey assessing sociodemographic characteristics, awareness of their carrier status and its implications, uptake of RR measures according to international guidelines by PV, CT initiation, and associated challenges...
April 2024: JCO global oncology
#2
JOURNAL ARTICLE
Xavier A Akins, Kashif Javid, Austin V Stone
» Osteochondritis dissecans of the capitellum is a localized compromise of bone that may lead to subchondral collapse with articular cartilage damage and loose body formation.» The etiology is multifactorial; proposed mechanisms include repetitive microtrauma, vascular insufficiency, and genetic predisposition.» Diagnosis is based on patient presentation, clinical examination, diagnostic imaging, and intraoperative findings.» Management is dependent on lesion characteristics, with stable lesions amenable to nonoperative treatment and unstable lesions managed with surgical intervention...
April 1, 2024: JBJS Reviews
#3
JOURNAL ARTICLE
Guangmei Liu, Shruthi Bandyadka, Kimberly McCall
Vacuole formation is a key hallmark of age-dependent neurodegeneration in the Drosophila brain. Here, we present a protocol to analyze 3D neurodegenerative vacuoles in the whole-mount Drosophila melanogaster brain. We describe steps for whole-brain dissection, staining, 3D imaging, and z-stack image processing using Fiji ImageJ. We then detail procedures for annotating and 3D-reconstructing neurodegenerative vacuoles with WEBKNOSSOS and Python, and performing statistical analysis in Python. This protocol enables measurement of parameters such as the number and volume of each vacuole...
April 17, 2024: STAR protocols
#4
REVIEW
Anne-Lotte C J van der Lingen, Tom E Verstraelen, Lieselot van Erven, Joan G Meeder, Dominic A Theuns, Kevin Vernooy, Arthur A M Wilde, Alexander H Maass, Cornelis P Allaart
International guidelines recommend implantation of an implantable cardioverter-defibrillator (ICD) in non-ischaemic cardiomyopathy (NICM) patients with a left ventricular ejection fraction (LVEF) below 35% despite optimal medical therapy and a life expectancy of more than 1 year with good functional status. We propose refinement of these recommendations in patients with NICM, with careful consideration of additional risk parameters for both arrhythmic and non-arrhythmic death. These additional parameters include late gadolinium enhancement on cardiac magnetic resonance imaging and genetic testing for high-risk genetic variants to further assess arrhythmic risk, and age, comorbidities and sex for assessment of non-arrhythmic mortality risk...
April 18, 2024: Netherlands Heart Journal
#5
JOURNAL ARTICLE
Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L Konczal, Robert J McCarter, Andrea L Gropman, Jirair K Bedoyan
BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) due to an X-linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality. About 80% of females with OTCD remain apparently "asymptomatic" with limited studies of their clinical characteristics and long-term health vulnerabilities. Multimodal neuroimaging studies and executive function testing have shown that asymptomatic females exhibit limitations when stressed to perform at higher cognitive load and had reduced activation of the prefrontal cortex...
April 2024: Molecular Genetics & Genomic Medicine
#6
JOURNAL ARTICLE
Lin-Lin Wang, Ping-Shan Pan, Hui Ma, Chun He, Zai-Long Qin, Wei He, Jing Huang, Shu-Yin Tan, Da-Hua Meng, Hong-Wei Wei, Ai-Hua Yin
BACKGROUND: Malformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD. Currently, there is no curative treatment for MCD. Phenotypes such as epilepsy and cerebral palsy cannot be observed in the fetus. Therefore, the diagnosis of MCD is typically based on fetal brain magnetic resonance imaging (MRI), ultrasound, or genetic testing...
April 2024: Molecular Genetics & Genomic Medicine
#7
Finn Rabe, Lukasz Smigielski, Foivos Georgiadis, Nils Kallen, Wolfgang Omlor, Matthias Kirschner, Edna Grünblatt, Daniel Barthelmes, Karen Schaal, Todd Lencz, Philipp Homan
The human retina is part of the central nervous system and can be easily and non-invasively imaged through optical coherence tomography. Imaging the retina may provide insights on central nervous system related disorders such as schizophrenia. Here, our objective was to investigate if variations in retinal phenotypes could be attributed to common genetic variations conveying a risk of schizophrenia as measured by polygenic risk scores. We used population data from the UK Biobank, including White British and Irish individuals without diagnosed schizoprenia, and estimated a polygenic risk score for schizophrenia based on the newest genome-wide association study (PGC release 2022)...
April 6, 2024: medRxiv
#8
REVIEW
Michelle L Oblak, Hui Yu Lu, Ann S Ram, Charly McKenna
There is a significant overlap in the genetic, metabolic and epigenetic alterations between human and companion animal cancers, including those of the oral cavity, breast, bladder, skin, lungs and pancreas. In many cancer types, the identification and removal of affected lymph nodes are essential for accurate cancer management, including treatment and prognosis. Historically, lymphadenectomy and subsequent radical resection based on regional anatomy, palpation and lymph node aspirates were considered sufficient; however, modern approaches with sentinel lymph node mapping (SLN) mapping have increased the accuracy of surgical decision-making...
2024: Frontiers in Medicine
#9
JOURNAL ARTICLE
Antonio Lorca-Cámara, Christophe Tourain, Vincent de Sars, Valentina Emiliani, Nicolò Accanto
The development of efficient genetically encoded indicators and actuators has opened up the possibility of reading and manipulating neuronal activity in living tissues with light. To achieve precise and reconfigurable targeting of large numbers of neurons with single-cell resolution within arbitrary volumes, different groups have recently developed all-optical strategies based on two-photon excitation and spatio-temporal shaping of ultrashort laser pulses. However, such techniques are often complex to set up and typically operate at a single wavelength only...
April 1, 2024: Biomedical Optics Express
#10
JOURNAL ARTICLE
Chi Liu, Yuejun Hao, Bo Lei, Yi Zhong, Lingjie Kong
The two-photon all-optical physiology system has attracted great interest in deciphering neuronal circuits in vivo , benefiting from its advantages in recording and modulating neuronal activities at single neuron resolutions. However, the interference, or crosstalk, between the imaging and photostimulation beams introduces a significant challenge and may impede the future application of voltage indicators in two-photon all-optical physiology system. Here, we propose the time multiplexed excitation method to distinguish signals from neuronal activities and crosstalks from photostimulation...
April 1, 2024: Biomedical Optics Express
#11
JOURNAL ARTICLE
Johan M Melis, Igor Siwanowicz, Michael H Dickinson
Insects constitute the most species-rich radiation of metazoa, a success that is due to the evolution of active flight. Unlike pterosaurs, birds and bats, the wings of insects did not evolve from legs1 , but are novel structures that are attached to the body via a biomechanically complex hinge that transforms tiny, high-frequency oscillations of specialized power muscles into the sweeping back-and-forth motion of the wings2 . The hinge consists of a system of tiny, hardened structures called sclerites that are interconnected to one another via flexible joints and regulated by the activity of specialized control muscles...
April 17, 2024: Nature
#12
JOURNAL ARTICLE
Nicholas J Tustison, Michael A Yassa, Batool Rizvi, Philip A Cook, Andrew J Holbrook, Mithra T Sathishkumar, Mia G Tustison, James C Gee, James R Stone, Brian B Avants
UK Biobank is a large-scale epidemiological resource for investigating prospective correlations between various lifestyle, environmental, and genetic factors with health and disease progression. In addition to individual subject information obtained through surveys and physical examinations, a comprehensive neuroimaging battery consisting of multiple modalities provides imaging-derived phenotypes (IDPs) that can serve as biomarkers in neuroscience research. In this study, we augment the existing set of UK Biobank neuroimaging structural IDPs, obtained from well-established software libraries such as FSL and FreeSurfer, with related measurements acquired through the Advanced Normalization Tools Ecosystem...
April 17, 2024: Scientific Reports
#13
JOURNAL ARTICLE
Wen Huang, Shuo Yang, Minying Deng, Rongkui Luo, Huaiyu Liang, Yanyan Shen, Biyu Yang, Chen Xu, Yingyong Hou
BACKGROUND: Gastric cancer (GC) remains a leading cause of cancer mortality globally. Synaptotagmin-4 (SYT4), a calcium-sensing synaptic vesicle protein, has been implicated in the oncogenesis of diverse malignancies. PURPOSE: This study delineates the role of SYT4 in modulating clinical outcomes and biological behaviors in GC. METHODS: We evaluated SYT4 expression in GC specimens using bioinformatics analyses and immunohistochemistry. Functional assays included CCK8 proliferation tests, apoptosis assays via flow cytometry, confocal calcium imaging, and xenograft models...
April 18, 2024: Functional & Integrative Genomics
#14
JOURNAL ARTICLE
Yosuke Takeuchi, Teruaki Masuda, Noriyuki Kimura, Kaori Sumi, Mika Jikumaru, Nobuyuki Eura, Ichizo Nishino, Etsuro Matsubara
X-linked myotubular myopathy (XLMTM) is a rare genetic disorder caused by X-linked mutations in the MTM1 gene. Although heterozygous females are typically asymptomatic, affected cases have recently been reported. We herein report a case of XLMTM manifesting carrier of the pathogenic c.206dupG mutation in MTM1 with uncommon extramuscular symptoms. She developed gaze nystagmus and cognitive impairment in addition to muscle weakness. Electrophysiological studies and brain magnetic resonance imaging indicated the involvement of the central and peripheral nervous systems...
April 16, 2024: Internal Medicine
#15
JOURNAL ARTICLE
Kathryn A W Knight, Catriona Barbour-Hastie, Angus Gane, Jonathan O'Riordan
A man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in the context of depression and chronic pain with opioid use. There was no notable family history. On examination, he had a spastic paraparesis. Imaging revealed atrophy of the thoracic spine. Lumbar puncture demonstrated a raised protein but other constituents were normal, including no presence of oligoclonal bands...
April 17, 2024: BMJ Case Reports
#16
JOURNAL ARTICLE
Julie K Wisch, Nicole S McKay, Anna H Boerwinkle, James Kennedy, Shaney Flores, Benjamin L Handen, Bradley T Christian, Elizabeth Head, Mark Mapstone, Michael S Rafii, Sid E O'Bryant, Julie C Price, Charles M Laymon, Sharon J Krinsky-McHale, Florence Lai, H Diana Rosas, Sigan L Hartley, Shahid Zaman, Ira T Lott, Dana Tudorascu, Matthew Zammit, Adam M Brickman, Joseph H Lee, Thomas D Bird, Annie Cohen, Patricio Chrem, Alisha Daniels, Jasmeer P Chhatwal, Carlos Cruchaga, Laura Ibanez, Mathias Jucker, Celeste M Karch, Gregory S Day, Jae-Hong Lee, Johannes Levin, Jorge Llibre-Guerra, Yan Li, Francisco Lopera, Jee Hoon Roh, John M Ringman, Charlene Supnet-Bell, Christopher H van Dyck, Chengjie Xiong, Guoqiao Wang, John C Morris, Eric McDade, Randall J Bateman, Tammie L S Benzinger, Brian A Gordon, Beau M Ances
BACKGROUND: In people with genetic forms of Alzheimer's disease, such as in Down syndrome and autosomal-dominant Alzheimer's disease, pathological changes specific to Alzheimer's disease (ie, accumulation of amyloid and tau) occur in the brain at a young age, when comorbidities related to ageing are not present. Studies including these cohorts could, therefore, improve our understanding of the early pathogenesis of Alzheimer's disease and be useful when designing preventive interventions targeted at disease pathology or when planning clinical trials...
May 2024: Lancet Neurology
#17
REVIEW
David Bouchez, Magalie Uyttewaal, Martine Pastuglia
Plant morphogenesis largely depends on the orientation and rate of cell division and elongation, and their coordination at all levels of organization. Despite recent progresses in the comprehension of pathways controlling division plane determination in plant cells, many pieces are missing to the puzzle. For example, we have a partial comprehension of formation, function and evolutionary significance of the preprophase band, a plant-specific cytoskeletal array involved in premitotic setup of the division plane, as well as the role of the nucleus and its connection to the preprophase band of microtubules...
April 16, 2024: Current Opinion in Plant Biology
#18
JOURNAL ARTICLE
Bhavna Gupta, Akash Saxena, Mason L Perillo, Lauren C Wade-Kleyn, Cort H Thompson, Erin K Purcell
ConspectusImplantable neurotechnology enables monitoring and stimulating of the brain signals responsible for performing cognitive, motor, and sensory tasks. Electrode arrays implanted in the brain are increasingly used in the clinic to treat a variety of sources of neurological diseases and injuries. However, the implantation of a foreign body typically initiates a tissue response characterized by physical disruption of vasculature and the neuropil as well as the initiation of inflammation and the induction of reactive glial states...
April 17, 2024: Accounts of Chemical Research
#19
JOURNAL ARTICLE
Langlang Zhang, Xiaofei Wang, Kang Dong, Bin Tan, Xianbo Zheng, Xia Ye, Wei Wang, Jun Cheng, Jiancan Feng
Peach fruit rapidly soften after harvest, a significant challenge for producers and marketers as it results in rotting fruit and significantly reduces shelf life. In this study, we identified two tandem genes, PpNAC1 and PpNAC5, within the sr (slow ripening) locus. Phylogenetic analysis showed that NAC1 and NAC5 are highly conserved in dicots and that PpNAC1 is the orthologous gene of Non-ripening (NOR) in tomato. PpNAC1 and PpNAC5 were highly expressed in peach fruit, with their transcript levels up-regulated at the onset of ripening...
April 17, 2024: Plant Molecular Biology
#20
JOURNAL ARTICLE
Arthur Araújo Massoud Salame, Helaine Laiz Silva Charchar, José Paulo de Oliveira Dourado, Berenice Mendonca, Guilherme Asmar Alencar, Leonardo José Tadeu de Araújo, Paula Ricci Arantes, Nicollas Nunes Rabelo, Eberval Gadelha Figueiredo, Maria Candida Barisson Villares Fragoso
INTRODUCTION: Meningiomas are the most common primary brain and central nervous system tumors, accounting for approximately 40% of these tumors. The most important exams for the radiological study of meningiomas are computed tomography (CT) and magnetic resonance imaging (MRI). We aimed to analyze the radiological features of patients with meningioma related to the simultaneous presence of bilateral macronodular adrenocortical disease (BMAD), with or without pathogenic variants of ARMC5...
April 17, 2024: Journal of Neuro-oncology
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