keyword
https://read.qxmd.com/read/38652285/a-novel-framework-for-functional-annotation-of-variants-of-uncertain-significance-in-id-asd-risk-gene-cc2d1a
#1
JOURNAL ARTICLE
Aniket Bhattacharya, Paola Parlanti, Luca Cavallo, Edward Farrow, Tyler Spivey, Alessandra Renieri, Francesca Mari, M Chiara Manzini
Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous with hundreds of identified risk genes, most affecting only a few patients. Novel missense variants in these genes are being discovered as clinical exome sequencing is now routinely integrated into diagnosis, yet most of them are annotated as variants of uncertain significance (VUS). VUSs are a major roadblock in using patient genetics to inform clinical action. We developed a framework to characterize VUSs in Coiled-coil and C2 domain containing 1A (CC2D1A), a gene causing autosomal recessive ID with comorbid ASD in 40% of cases...
April 23, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38651892/bypass-assisted-microsurgical-clipping-for-an-endovascular-treatment-resistant-ruptured-internal-carotid-posterior-communicating-artery-aneurysm-recurring-two-decades-postinitial-clipping-2-dimensional-operative-video
#2
JOURNAL ARTICLE
Takahiro Tsuchiya, Yuki Shinya, Yoshiaki Shiokawa, Takeo Tanishima, Akira Tamura, Hideaki Ono
Salvage treatment of postclipping recurrent aneurysms remains challenging.1,2 The salvage microsurgical clipping is a possible intervention but sometimes difficult because of tissue adhesions around the aneurysm and previously installed clips; therefore, salvage coil embolization may have certain advantages.1-5 However, when coil embolization is not applicable,6 microsurgical clipping is a stand-alone curative treatment, requiring proficient and reliable microsurgical techniques. This article describes a unique case of a 70-year-old female patient complaining of a severe headache with subarachnoid hemorrhage due to a recurrent ruptured left internal carotid-posterior communicating artery aneurysm after microsurgical clipping 23 years ago...
April 23, 2024: Operative Neurosurgery (Hagerstown, Md.)
https://read.qxmd.com/read/38651330/exploring-therapeutic-targets-for-molecular-therapy-of-idiopathic-pulmonary-fibrosis
#3
REVIEW
Yue Li, Congshan Jiang, Wenhua Zhu, Shemin Lu, Hongchuan Yu, Liesu Meng
Idiopathic pulmonary fibrosis is a chronic and progressive interstitial lung disease with a poor prognosis. Idiopathic pulmonary fibrosis is characterized by repeated alveolar epithelial damage leading to abnormal repair. The intercellular microenvironment is disturbed, leading to continuous activation of fibroblasts and myofibroblasts, deposition of extracellular matrix, and ultimately fibrosis. Moreover, pulmonary fibrosis was also found as a COVID-19 complication. Currently, two drugs, pirfenidone and nintedanib, are approved for clinical therapy worldwide...
2024: Science Progress
https://read.qxmd.com/read/38650787/anodal-electrical-taste-stimulation-to-the-chin-enhances-the-salt-taste-perception-in-subarachnoid-hemorrhage-patients
#4
Masahito Katsuki, Taiki Fukushima, Tetsuya Goto, Yoshiki Hanaoka, Naomichi Wada, Takuya Nakamura, Shiori Sasaki, Tetsuyoshi Horiuchi
Aneurysmal subarachnoid hemorrhage (SAH) is a critical condition associated with high mortality rates. Hypertension is a significant risk factor for SAH development and recurrence following coil embolization for a ruptured aneurysm. While reduction of salt consumption is crucial for managing hypertension, it often compromises food taste. Anodal electrical taste stimulation (ETS) has been proposed to enhance taste perception without altering salt content. We present the case of a 69-year-old female SAH patient with a ruptured aneurysm at the anterior communicating artery who underwent coil embolization and in whom we tested ETS's efficacy in enhancing the salt taste perception on day 42 after the procedure...
March 2024: Curēus
https://read.qxmd.com/read/38650568/two-step-effective-onyx-embolization-from-the-occipital-artery-for-the-treatment-of-intracranial-dural-arteriovenous-fistula-a-technical-note
#5
JOURNAL ARTICLE
Shoko Fujii, Sakyo Hirai, Kyohei Fujita, Hiroto Yamaoka, Mariko Ishikawa, Jiro Aoyama, Hirotaka Sagawa, Kazunori Miki, Shigeru Nemoto, Kazutaka Sumita
AIM: Trans-arterial embolization (TAE) using Onyx has recently been recognized as a curative treatment for dural arteriovenous fistulas (DAVFs). However, TAE for DAVFs with feeders from the occipital artery (OA) remains challenging because of the tiny and transosseous properties of the OA feeders. We report our experience and the technique of two-step effective Onyx embolization from OA for the obliteration of DAVFs with OA feeders. MATERIAL AND METHODS: The medical records of patients with intracranial DAVFs treated with TAE using Onyx from the OA were retrospectively reviewed...
July 31, 2023: Turkish Neurosurgery
https://read.qxmd.com/read/38650562/coil-embolization-of-the-azygos-anterior-cerebral-artery-aneurysm-three-case-reports
#6
JOURNAL ARTICLE
Yuichiro Tsuji, Yuzo Kuroda, Ryokichi Yagi, Ryo Hiramatsu, Masahiko Wanibuchi
The azygos anterior cerebral artery (ACA) is a rare anatomical anomaly. Clipping surgery has been conducted in approximately 30 reported cases because it is frequently associated with aneurysms. However, few cases in which coil embolization was performed have been reported. We report three cases of coil embolization for distal ACA aneurysms with distal azygos ACA at our institution in 7 years. All patients were over 65-year-old women with saccular aneurysms larger than 7 mm; two with subarachnoid hemorrhage and one with an unruptured aneurysm...
May 12, 2023: Turkish Neurosurgery
https://read.qxmd.com/read/38650551/systematic-review-of-treatment-for-unruptured-intracranial-aneurysms-clipping-vs-coiling
#7
JOURNAL ARTICLE
Zhe Shen, Yachao Zhao, Xuanmin Gu, Junchao Fang, Jinsheng Yang, Tao Li, Bo Fan
BACKGROUND: In recent years, unruptured intracranial aneurysms have been found more frequently, and endovascular coiling has become an increasingly popular treatment. METHODS: Computer databases were searched between 1990 and 2018; the databases included Medline, EMBASE, the Cochrane library, and three Chinese domestic databases. We included controlled clinical studies. Two researchers extracted data and assessed the included studies. A meta-analysis was performed...
April 16, 2024: Turkish Neurosurgery
https://read.qxmd.com/read/38650164/dual-responsive-mxene-functionalized-wool-yarn-artificial-muscles
#8
JOURNAL ARTICLE
Liuxiang Zhan, Shaohua Chen, Yangyang Xin, Jian Lv, Hongbo Fu, Dace Gao, Feng Jiang, Xinran Zhou, Ni Wang, Pooi See Lee
Fiber-based artificial muscles are promising for smart textiles capable of sensing, interacting, and adapting to environmental stimuli. However, the application of current artificial muscle-based textiles in wearable and engineering fields has largely remained a constraint due to the limited deformation, restrictive stimulation, and uncomfortable. Here, dual-responsive yarn muscles with high contractile actuation force are fabricated by incorporating a very small fraction (<1 wt.%) of Ti3 C2 Tx MXene/cellulose nanofibers (CNF) composites into self-plied and twisted wool yarns...
April 22, 2024: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://read.qxmd.com/read/38649922/performance-of-receive-head-arrays-versus-ultimate-intrinsic-snr-at-7%C3%A2-t-and-10-5%C3%A2-t
#9
JOURNAL ARTICLE
Bei Zhang, Jerahmie Radder, Ilias Giannakopoulos, Andrea Grant, Russell Lagore, Matt Waks, Nader Tavaf, Pierre-Francois Van de Moortele, Gregor Adriany, Alireza Sadeghi-Tarakameh, Yigitcan Eryaman, Riccardo Lattanzi, Kamil Uğurbil
PURPOSE: We examined magnetic field dependent SNR gains and ability to capture them with multichannel receive arrays for human head imaging in going from 7 T, the most commonly used ultrahigh magnetic field (UHF) platform at the present, to 10.5 T, which represents the emerging new frontier of >10 T in UHFs. METHODS: Electromagnetic (EM) models of 31-channel and 63-channel multichannel arrays built for 10.5 T were developed for 10...
April 22, 2024: Magnetic Resonance in Medicine
https://read.qxmd.com/read/38649204/mechanisms-of-electroacupuncture-relieves-uterine-smooth-muscle-spasm-in-dysmenorrhea-rats-based-on-rho-rock-signaling-pathway
#10
JOURNAL ARTICLE
Guang-Tong Lu, Xi-Sheng Fan, Xue-Song Wang, Guang Zuo, Yi Zhang, Ming-Jian Zhang, Miao Lin, Jin Liu, Jun Liu, Jun-Cha Zhang, Xu-Liang Shi, Yan-Fen She
OBJECTIVES: To investigate the effect of electroacupuncture (EA) on Rho/Rho-associated coiled-coil-forming kinases (ROCK) signaling pathway of uterus tissue in rats with dysmenorrhea, so as to explore the underlying mechanism of EA treating primary dysmenorrhea (PD) and uterine smooth muscle spasm, and to observe whether there is a difference in the effect of meridian acupoints in Conception Vessel (CV) and Governer Vessel (GV). METHODS: Sixty female SD rats were randomly divided into saline, model, CV, GV, and non-acupoint groups, with 12 rats in each group...
April 25, 2024: Zhen Ci Yan Jiu, Acupuncture Research
https://read.qxmd.com/read/38648786/a-scan-specific-quality-control-acquisition-for-clinical-whole-body-wb-mri-protocols
#11
JOURNAL ARTICLE
Sam Keaveney, Georgina Hopkinson, Julia E Markus, Andrew N Priest, Erica Scurr, Julie Hughes, Scott Robertson, Simon J Doran, David J Collins, Christina Messiou, Dow-Mu Koh, Jessica M Winfield
Image quality in whole-body MRI (WB-MRI) may be degraded by faulty radiofrequency (RF) coil elements or mispositioning of the coil arrays. Phantom-based quality control (QC) is used to identify broken RF coil elements but the frequency of these acquisitions is limited by scanner and staff availability. This work aimed to develop a scan-specific QC acquisition and processing pipeline to detect broken RF coil elements, which is sufficiently rapid to be added to the clinical WB-MRI protocol. The purpose of this is to improve the quality of WB-MRI by reducing the number of patient examinations conducted with suboptimal equipment...
April 22, 2024: Physics in Medicine and Biology
https://read.qxmd.com/read/38647191/effect-of-mr-head-coil-geometry-on-deep-learning-based-mr-image-reconstruction
#12
JOURNAL ARTICLE
Natalia Dubljevic, Stephen Moore, Michel Louis Lauzon, Roberto Souza, Richard Frayne
PURPOSE: To investigate whether parallel imaging-imposed geometric coil constraints can be relaxed when using a deep learning (DL)-based image reconstruction method as opposed to a traditional non-DL method. THEORY AND METHODS: Traditional and DL-based MR image reconstruction approaches operate in fundamentally different ways: Traditional methods solve a system of equations derived from the image data whereas DL methods use data/target pairs to learn a generalizable reconstruction model...
April 22, 2024: Magnetic Resonance in Medicine
https://read.qxmd.com/read/38647038/evoked-oscillatory-cortical-activity-during-acute-pain-probing-brain-in-pain-by-transcranial-magnetic-stimulation-combined-with-electroencephalogram
#13
JOURNAL ARTICLE
Enrico De Martino, Adenauer Casali, Silvia Casarotto, Gabriel Hassan, Bruno Andry Couto, Mario Rosanova, Thomas Graven-Nielsen, Daniel Ciampi de Andrade
Temporal dynamics of local cortical rhythms during acute pain remain largely unknown. The current study used a novel approach based on transcranial magnetic stimulation combined with electroencephalogram (TMS-EEG) to investigate evoked-oscillatory cortical activity during acute pain. Motor (M1) and dorsolateral prefrontal cortex (DLPFC) were probed by TMS, respectively, to record oscillatory power (event-related spectral perturbation and relative spectral power) and phase synchronization (inter-trial coherence) by 63 EEG channels during experimentally induced acute heat pain in 24 healthy participants...
April 15, 2024: Human Brain Mapping
https://read.qxmd.com/read/38646401/multiple-aneurysms-or-pseudoaneurysms-of-the-gastroepiploic-artery-an-anecdotal-cause-of-hemoperitoneum
#14
Johan Sebastian Lopera-Valle, Brayan Muñoz-Caicedo, Julián Andrés Muñoz Durán
Gastroepiploic artery aneurysms and pseudoaneurysms pose diagnostic challenges due to their rarity and overlapping radiological features. This case report presents an 82-year-old woman with sudden-onset severe abdominal pain with computed tomography revealing hemoperitoneum and saccular dilations adjacent to the stomach's greater curvature, suggestive of vascular pathology. Selective abdominal arteriography confirmed three saccular dilatations in the gastroepiploic artery, which were managed successfully with coil embolization...
March 2024: Curēus
https://read.qxmd.com/read/38646159/decoding-kinematic-information-from-beta-band-motor-rhythms-of-speech-motor-cortex-a-methodological-analytic-approach-using-concurrent-speech-movement-tracking-and-magnetoencephalography
#15
JOURNAL ARTICLE
Ioanna Anastasopoulou, Douglas Owen Cheyne, Pascal van Lieshout, Blake Warren Johnson
INTRODUCTION: Articulography and functional neuroimaging are two major tools for studying the neurobiology of speech production. Until now, however, it has generally not been feasible to use both in the same experimental setup because of technical incompatibilities between the two methodologies. METHODS: Here we describe results from a novel articulography system dubbed Magneto-articulography for the Assessment of Speech Kinematics (MASK), which is technically compatible with magnetoencephalography (MEG) brain scanning systems...
2024: Frontiers in Human Neuroscience
https://read.qxmd.com/read/38645961/percutaneous-transhepatic-sclerotherapy-for-ascending-colonic-varices-due-to-left-sided-portal-hypertension
#16
Fumi Sasaki, Atsushi Jogo, Akira Yamamoto, Ken Kageyama, Akane Tashiro, Yasuhito Mitsuyama, Tatsushi Oura, Kazuki Matsushita, Kazuo Asano, Eisaku Terayama, Masanori Ozaki, Yuki Sakai, Shohei Harada, Kazuki Murai, Mariko Nakano, Ryuichi Kita, Toshio Kaminou, Yukio Miki
Left-sided portal hypertension (LSPH) causes varices and splenomegaly due to splenic vein issues. Colonic varices are rare and lack standardized treatment. We report the successful treatment of colonic varices caused by LSPH, by addressing both the afferent and efferent veins. A 70-year-old man with distal cholangiocarcinoma had surgery without splenic vein resection, leading to proximal splenic vein stenosis and varices at multiple locations. Percutaneous transhepatic splenic venography revealed that collateral veins flowed into the ascending colonic varices and returned to the portal vein...
July 2024: Radiology Case Reports
https://read.qxmd.com/read/38645872/-prokaryotic-expression-and-bioinformatic-analysis-of-rv3432c-from-mycobacterium-tuberculosis
#17
JOURNAL ARTICLE
Haibo Yi, Xinghong Gao, Guo Luo, Peng Xu, Huan Wang
OBJECTIVE: To express the protein enconded by the Rv 3432 c gene of Mycobacterium tuberculosis ( M . tb ) in vitro by prokaryotic expression, to analyze the structure of the Rv3432c protein by using bioinformatics software, and to explore for new drug targets against M . tb . METHODS: The Rv 3432 c gene was amplified by PCR using the genomic DNA of the inactivated M . tb strain H37Rv as the template and a recombinant plasmid was constructed with the expression vector pET-28a...
March 20, 2024: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://read.qxmd.com/read/38645708/miniaturized-wirelessly-powered-and-controlled-implants-for-multisite-stimulation
#18
JOURNAL ARTICLE
Iman Habibagahi, Jaeeun Jang, Aydin Babakhani
This paper presents a miniaturized implant with a diameter of only 14 mm, which houses a novel System on Chip (SoC) enabling two voltage level stimulation of up to 16 implants using a single Tx coil. Each implant can operate at a distance of 80 mm in the air through the inductive resonant link. The SoC consumes only 27 μ W static power and enables two channels with stimulation amplitudes of 1.8 V and 3.3 V and timing resolution of 100 μ s. The SoC is implemented in the standard 180 nm complementary metal oxide semiconductor (CMOS) technology and has an area of 0...
May 2023: IEEE Transactions on Microwave Theory and Techniques
https://read.qxmd.com/read/38645547/pulmonary-artery-involvement-in-beh%C3%A3-et-s-disease-a-challenging-case-and-comprehensive-management-approach
#19
Kayla A Aikins, Zoé N Anderson, Benjamin L Bosse, Susan Knowles
A 26-year-old male with Behçet's disease (BD) presented with recurrent oral and genital ulcers, bilateral pneumonia, and a left lower pulmonary artery aneurysm. Endovascular coil embolization was initially performed, followed by treatment with prednisone, colchicine, and azathioprine. Despite treatment, disease progression occurred, requiring additional embolization, intravenous pulse methylprednisolone, and cyclophosphamide. Ultimately, a combination of medical and endovascular interventions resolved the pulmonary arterial aneurysms...
June 2024: Radiology Case Reports
https://read.qxmd.com/read/38645534/two-session-embolization-of-portosystemic-shunt-presenting-with-hepatic-encephalopathy-via-transvenous-and-trans-paraumbilical-approaches-a-case-report
#20
Hiroki Kamada, Tomomi Sato, Sota Oguro, Hideki Ota, Kei Takase
We describe the endovascular embolization of a 65-year-old man with chronic hepatic encephalopathy. A contrast-enhanced computed tomography demonstrated a splenorenal shunt and a recanalized paraumbilical vein as a continuous portal shunt connecting the left branch of the portal vein and the right common femoral vein. A 2-session embolization was performed for the splenorenal shunt. First, the transvenous approach was used for coil embolization of the splenorenal shunt. It was difficult to advance the catheter system to the embolization site, and it was unstable during coil placement...
June 2024: Radiology Case Reports
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