Results 131 to 140 of about 38,704 (246)

Thermally Drawn Bioelectric Catheters: Enabling Proprioceptive Endovascular Navigation

Advanced Intelligent Systems, EarlyView.
This work introduces a novel bioelectric navigation system eliminates the need for harmful fluoroscopy during endovascular surgeries. A bespoke 16‐electrode catheter is fabricated using rapid thermal drawing and laser micro‐machining. Paired with a real‐time tracking algorithm fusing vascular geometry detection and distance estimation, this technology ...
Alex Ranne, Heiko Maier, Jinshi Zhao, Songli Moey, Ayhan Aktas, Manik Chana, Burak Temelkuran, Nassir Navab, Ferdinando Rodriguez y Baena   +8 more
wiley   +1 more source

Assessment of Image Quality Performance of a Photon-Counting Computed Tomography Scanner Approved for Whole-Body Clinical Applications. [PDF]

Sensors (Basel)
Maddaloni FS, Sarno A, Loria A, Piai A, Lenardi C, Esposito A, Del Vecchio A.   +6 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

From Anatomical to Clinical DRLs: Establishing Indication-Based CT Dose Benchmarks in Saudi Arabia. [PDF]

Diagnostics (Basel)
Bouaoun A, Althubaiti RM, Edreess RW, Malaih AA.   +3 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

FocusedON-BC: A Robust Deep Learning Framework for Automated Body Composition Assessment. [PDF]

Nutrients
Rubio-García JM, Jiménez-Sánchez A, Palmas F, Oliver-Vila C, Rodriguez-Martinez A, Roson-Gradaille N, Medina-Hernandez SM, Santana-Quintana G, Carrasco EJ, Guerra R, Burgos R, Ciudin A.   +11 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Improved organ absorbed dose estimation in abdominal CT using DICOM header-based tube current modulation profiles: Validation with measurements and Monte Carlo simulations. [PDF]

J Appl Clin Med Phys
Nuntue C, Matsubara K, Watanabe S, Fukushima K, Tantiwetchayanon K.   +4 more
europepmc   +1 more source