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JOURNAL ARTICLE
Kritika Bhalla, Karen Rosier, Yenthe Monnens, Sandra Meulemans, Ellen Vervoort, Lieven Thorrez, Patrizia Agostinis, Daniel T Meier, Anne Rochtus, James L Resnick, John W M Creemers
Loss of prolyl endopeptidase-like (PREPL) encoding a serine hydrolase with (thio)esterase activity leads to the recessive metabolic disorder Congenital Myasthenic Syndrome-22 (CMS22). It is characterized by severe neonatal hypotonia, feeding problems, growth retardation, and hyperphagia leading to rapid weight gain later in childhood. The phenotypic similarities with Prader-Willi syndrome (PWS) are striking, suggesting that similar pathways are affected. The aim of this study was to identify changes in the hypothalamic-pituitary axis in mouse models for both disorders and to examine mitochondrial function in skin fibroblasts of patients and knockout cell lines...
April 14, 2024: Biochimica et Biophysica Acta. Molecular Basis of Disease
#22
JOURNAL ARTICLE
Zara Kayani, Andrew Willis, Shukrat O Salisu-Olatunji, Shavez Jeffers, Kamlesh Khunti, Ash Routen
OBJECTIVES: Globally, there is a growing number of people who are living with multiple long-term conditions (MLTCs). Due to complex management needs, it is imperative that research consists of participants who may benefit most from interventions. It is well documented that ethnic minority groups and lower socioeconomic status (SES) groups are at an increased risk of developing MLTCs. Therefore, the aim of this systematic review was to determine the level of reporting and representation of underserved groups (ethnic minority and low SES) in intervention studies addressing MLTCs...
April 16, 2024: Journal of the Royal Society of Medicine
#23
JOURNAL ARTICLE
Ari D Kappel, Abdullah H Feroze, Erickson Torio, Madhav Sukumaran, Rose Du
Moyamoya disease (MMD) is characterized by idiopathic, progressive stenosis of the circle of Willis and the terminal portion of the internal carotid arteries with the development of prominent small collateral vessels and a characteristic moyamoya or puff-of-smoke radiographic appearance. The incidence and prevalence of MMD varies by region, age, and sex, with higher rates in Asian and East Asian populations compared to North American or European populations. There is a bimodal distribution of patients diagnosed with MMD...
April 19, 2024: Journal of Neurosurgery
#24
JOURNAL ARTICLE
Dul Dram, Jia-Zeng Guo, Rong-Rui Wei, Qin-Ge Ma
BACKGROUND: Elsholtzia belongs to the Labiatae family, which consists of herbaceous subshrubs and shrubs. Among them, volatile oils are an important chemical component in Elsholtzia, which have various bioactive medicinal and developmental values. METHODS: The references about volatile oils of Elsholtzia in this review were obtained from Web of Science, SciFinder, PubMed, Willy, Elsevier, SpringLink, ACS publications, Google Scholar, Baidu Scholar, Scopus, and CNKI...
April 15, 2024: Combinatorial Chemistry & High Throughput Screening
#25
JOURNAL ARTICLE
Willy Knorr, Samuel Brem, Giuseppe Meneghini, Ermin Malic
Twisted transition metal dichalcogenides (TMDs) present an intriguing platform for exploring excitons and their transport properties. By introducing a twist angle, a moiré superlattice forms, providing a spatially dependent exciton energy landscape. Based on a microscopic many-particle theory, we investigate in this work polaron-induced changes in exciton transport properties in the exemplary MoSe2 /WSe2 heterostructure. We demonstrate that polaron formation and the associated enhancement of the moiré exciton mass lead to a significant band flattening...
April 16, 2024: Nanoscale
#26
JOURNAL ARTICLE
Joseph Fokam, Davy-Hyacinthe Gouissi Anguechia, Desire Takou, Ezechiel Ngoufack Jagni Semengue, Collins Chenwi, Grace Beloumou, Sandrine Djupsa, Alex Durand Nka, Willy Le Roi Togna Pabo, Aissatou Abba, Aude Christelle Ka'e, Aurelie Kengni, Naomi Karell Etame, Larissa Gaelle Moko, Evariste Molimbou, Rachel Audrey Nayang Mundo, Michel Tommo, Nadine Fainguem, Lionele Mba Fotsing, Luna Colagrossi, Claudia Alteri, Dorine Ngono, John Otokoye Otshudiema, Clement Ndongmo, Yap Boum, Georges Mballa Etoundi, Edie G E Halle, Emmanuel Eben-Moussi, Carla Montesano, Anne-Genevieve Marcelin, Vittorio Colizzi, Carlo-Federico Perno, Alexis Ndjolo, Nicaise Ndembi
BACKGROUND: Surveillance of SARS-CoV-2 variants of concern (VOCs) and lineages is crucial for decision-making. Our objective was to study the SARS-CoV-2 clade dynamics across epidemiological waves and evaluate the reliability of SNPsig® SARS-CoV-2 EscapePLEX CE in detecting VOCs in Cameroon. MATERIAL AND METHODS: A laboratory-based study was conducted on SARS-CoV-2 positive nasopharyngeal specimens cycle threshold (Ct)≤30 at the Chantal BIYA International Reference Centre in Yaoundé-Cameroon, between April-2020 to August-2022...
April 15, 2024: Heliyon
#27
JOURNAL ARTICLE
Jhony A De La Cruz-Vargas, Willy Ramos, Willer Chanduví, Lucy E Correa-López, Nadia Guerrero, Joan Loayza-Castro, Irene Tami-Maury, Diego Venegas
BACKGROUND: Limited evidence exists on the population attributable fraction (PAF) of cancer cases and deaths in Latin America. In Peru several studies have been published regarding the PAF of various risk factors and their associated diseases. The objective of this study was to estimate the fraction of cancer cases and deaths attributable to potentially modifiable risk factors in Peru in 2018, before the COVID-19 pandemic in the population of 15 years old and older. METHODS: An ecological study was conducted using the prevalence of exposure of the Peruvian population to modifiable risk factors for cancer, the relative risk associated with each factor, and the number of cancer cases and deaths in 2018 as inputs...
April 15, 2024: BMC Cancer
#28
JOURNAL ARTICLE
Judy Schloss, Dominic P Coppolo, Jason A Suggett, Mark W Nagel, Jolyon P Mitchell
INTRODUCTION: Reusable nebulizer-compressor combinations deliver inhaled medications for patients with chronic lung diseases. On hospital discharge, the patient may take home the disposable nebulizer that was packaged and combine it with their home compressor. Though this practice may reduce waste, it can increase variability in medication delivery. Our study compared several reusable and disposable nebulizers packaged with compressor kits used in the US. We included a common disposable hospital nebulizer that may not be supplied with popular home kits but may be brought home after a hospitalization or emergency department visit...
April 15, 2024: Pulmonary Therapy
#29
Minna L Rodrigo, Christine Heubi, Eric Chiou, Ann Scheimann
Feeding difficulties, aspiration, and failure to thrive in infancy are commonly seen in patients with Prader-Willi Syndrome (PWS) and attributed to hypotonia. Patients with PWS and laryngeal clefts were identified by review of medical records at three tertiary care children's hospitals between 2017 and 2022. We present three patients with PWS with feeding difficulties who were also found to have laryngeal clefts which likely contributed to their feeding difficulties. Additional factors such as airway anomalies should be considered in patients with PWS, especially when swallowing dysfunction, dysphagia, or abnormal swallow evaluations are present...
April 15, 2024: American Journal of Medical Genetics. Part A
#30
JOURNAL ARTICLE
Malachi Willis, Judith Mabelis, Dorothy Currie, Judith Brown, Joanna Inchley
OBJECTIVES: We examined associations between recent contraceptive use and first-sex behaviors (early initiation, substance use, contraceptive use) among adolescents in Scotland. METHODS: We used data from the Health Behavior in School-aged Children study. RESULTS: Controlling for early initiation and substance use, girls and boys who used contraceptives at first sex were 7.5 and 12.3 times more likely to use contraceptives at most recent sexual intercourse than adolescents who did not ( p < ...
2024: International Journal of Sexual Health
#31
JOURNAL ARTICLE
Rabeya Akter Mim, Anjana Soorajkumar, Noor Kosaji, Muhammad Mizanur Rahman, Shaoli Sarker, Noushad Karuvantevida, Tamannyat Binte Eshaque, Md Atikur Rahaman, Amirul Islam, Mohammod Shah Jahan Chowdhury, Nusrat Shams, K M Furkan Uddin, Hosneara Akter, Mohammed Uddin
BACKGROUND: The 15q11-q13 region is a genetic locus with genes subject to genomic imprinting, significantly influencing neurodevelopment. Genomic imprinting is an epigenetic phenomenon that causes differential gene expression based on the parent of origin. In most diploid organisms, gene expression typically involves an equal contribution from both maternal and paternal alleles, shaping the phenotype. Nevertheless, in mammals, including humans, mice, and marsupials, the functional equivalence of parental alleles is not universally maintained...
April 2024: Brain and Behavior
#32
JOURNAL ARTICLE
Alberto Coccarelli, Raoul Van Loon, Aichi Chien
Changes in cerebral blood flow are often associated with the initiation and development of different life-threatening medical conditions including aneurysm rupture and ischemic stroke. Nevertheless, it is not fully clear how haemodynamic changes in time across the Circle of Willis (CoW) are related with intracranial aneurysm (IA) growth. In this work, we introduced a novel reduced-order modelling strategy for the systematic quantification of longitudinal blood flow changes across the whole CoW in patients with stable and unstable/growing aneurysm...
April 14, 2024: Annals of Biomedical Engineering
#33
JOURNAL ARTICLE
Debra J Rose, Diobel M Castner, Kathleen S Wilson, Daniela A Rubin
BACKGROUND: Good postural stability control is dependent upon the complex integration of incoming sensory information (visual, somatosensory, vestibular) with neuromotor responses that are constructed in advance of a voluntary action or in response to an unexpected perturbation. AIMS: To examine whether differences exist in how sensory inputs are used to control standing balance in children with and without Prader-Willi syndrome (PWS). METHODS AND PROCEDURES: In this cross-sectional study, 18 children with PWS and 51 children categorized as obese but without PWS (without PWS) ages 8-11 completed the Sensory Organization Test®...
April 13, 2024: Research in Developmental Disabilities
#34
JOURNAL ARTICLE
Diana Marcela Buitrago, Sandra J Perdomo, Francisco Arturo Silva, Willy Cely-Veloza, Gloria Inés Lafaurie
Propolis extracts have been widely studied due to their popularity in traditional medicine, presenting incredible biodiversity. This study aimed to analyze propolis extracts' phytochemical, physicochemical, and biological activities from four different biogeographic zones of the Huila region (Colombia). The raw material samples were collected by the scraping method and the ethanolic extracts (EEPs) were obtained by cold maceration with ethanol (96%). The physicochemical and sensory characterization was carried out according to the protocols recommended by the Brazilian Ministry of Agriculture and the main components of the EEPs were identified by LC-HRMS analysis...
April 6, 2024: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
#35
JOURNAL ARTICLE
Jincheng Zhang, Artur Wolek, Andrew R Willis
This article presents an analysis of current state-of-the-art sensors and how these sensors work with several mapping algorithms for UAV (Unmanned Aerial Vehicle) applications, focusing on low-altitude and high-speed scenarios. A new experimental construct is created using highly realistic environments made possible by integrating the AirSim simulator with Google 3D maps models using the Cesium Tiles plugin. Experiments are conducted in this high-realism simulated environment to evaluate the performance of three distinct mapping algorithms: (1) Direct Sparse Odometry (DSO), (2) Stereo DSO (SDSO), and (3) DSO Lite (DSOL)...
March 29, 2024: Sensors
#36
JOURNAL ARTICLE
André Wan Wen Tsai, Ricardo Kobayashi, Ibrahim Afrânio Willi Liu, Márcio Fim, André Cicone Liggieri, Edilson Silva Machado
Pain is the most common complaint reported to orthopedists in the outpatient clinic, emergency room, or booth. Numerous publications report the inadequate management of both acute and chronic pain by health professionals. This updated article aims to provide information about musculoskeletal pain, its classification, evaluation, diagnosis, and the multimodal therapeutic approach for each case. For acute pain, adequate control allows for earlier rehabilitation to work and reduces the rates of pain chronification...
April 2024: Revista Brasileira de Ortopedia
#37
JOURNAL ARTICLE
Soichi Hayashi, Bradley A Caron, Anibal Sólon Heinsfeld, Sophia Vinci-Booher, Brent McPherson, Daniel N Bullock, Giulia Bertò, Guiomar Niso, Sandra Hanekamp, Daniel Levitas, Kimberly Ray, Anne MacKenzie, Paolo Avesani, Lindsey Kitchell, Josiah K Leong, Filipi Nascimento-Silva, Serge Koudoro, Hanna Willis, Jasleen K Jolly, Derek Pisner, Taylor R Zuidema, Jan W Kurzawski, Kyriaki Mikellidou, Aurore Bussalb, Maximilien Chaumon, Nathalie George, Christopher Rorden, Conner Victory, Dheeraj Bhatia, Dogu Baran Aydogan, Fang-Cheng F Yeh, Franco Delogu, Javier Guaje, Jelle Veraart, Jeremy Fischer, Joshua Faskowitz, Ricardo Fabrega, David Hunt, Shawn McKee, Shawn T Brown, Stephanie Heyman, Vittorio Iacovella, Amanda F Mejia, Daniele Marinazzo, R Cameron Craddock, Emanuale Olivetti, Jamie L Hanson, Eleftherios Garyfallidis, Dan Stanzione, James Carson, Robert Henschel, David Y Hancock, Craig A Stewart, David Schnyer, Damian O Eke, Russell A Poldrack, Steffen Bollman, Ashley Stewart, Holly Bridge, Ilaria Sani, Winrich A Freiwald, Aina Puce, Nicholas L Port, Franco Pestilli
Neuroscience is advancing standardization and tool development to support rigor and transparency. Consequently, data pipeline complexity has increased, hindering FAIR (findable, accessible, interoperable and reusable) access. brainlife.io was developed to democratize neuroimaging research. The platform provides data standardization, management, visualization and processing and automatically tracks the provenance history of thousands of data objects. Here, brainlife.io is described and evaluated for validity, reliability, reproducibility, replicability and scientific utility using four data modalities and 3,200 participants...
April 11, 2024: Nature Methods
#38
JOURNAL ARTICLE
Hyeondong Yang, Kwang-Chun Cho, Ineui Hong, Yeonwoo Kim, Yong Bae Kim, Jung-Jae Kim, Je Hoon Oh
Computational fluid dynamics (CFD) has been utilized to calculate hemodynamic parameters in anterior communicating artery aneurysm (AComA), which is located at a junction between left and right A1 and A2 segments. However, complete or half circle of Willis (CoW) models are used indiscriminately. This study aims to suggest recommendations for determining suitable CoW model. Five patient-specific CoW models with AComA were used, and each model was divided into complete, left-half, and right-half models. After validating the CFD using a flow experiment, the hemodynamic parameters and flow patterns in five AComAs were compared...
April 11, 2024: Scientific Reports
#39
JOURNAL ARTICLE
Lou T Blanpain, Eric R Cole, Emily Chen, James K Park, Michael Y Walelign, Robert E Gross, Brian T Cabaniss, Jon T Willie, Annabelle C Singer
Modulating brain oscillations has strong therapeutic potential. Interventions that both non-invasively modulate deep brain structures and are practical for chronic daily home use are desirable for a variety of therapeutic applications. Repetitive audio-visual stimulation, or sensory flicker, is an accessible approach that modulates hippocampus in mice, but its effects in humans are poorly defined. We therefore quantified the neurophysiological effects of flicker with high spatiotemporal resolution in patients with focal epilepsy who underwent intracranial seizure monitoring...
April 11, 2024: Nature Communications
#40
JOURNAL ARTICLE
Lucie K Tintrop, Steffen Bräkling, Marleen Vetter, Willi Eßer, Felix Drees, Amir Salemi, Maik A Jochmann, Sonja Klee, Torsten C Schmidt
The evaluation of nontarget analysis (NTA) techniques for the monitoring of wastewater is important as wastewater is an anthropogenic pollution source for aquatic ecosystems and a threat to human and environmental health. This study presents the proof-of-concept NTA of industrial wastewater samples. A prototype hydrophilic-lipophilic-balanced (HLB) SPME and gas chromatography interfaced with time-of-flight high-resolution mass spectrometry (GC-TOFMS) with electron ionization (EI) and chemical ionization (CI) in parallel are employed...
April 11, 2024: Analytical Chemistry
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