Results 101 to 110 of about 7,584 (237)

Precision Mapping of Retinal Disease: Identification of Differential Progression Trajectories via Imaging Phenomics

iMetaMed, EarlyView.
Applying single‐cell RNA‐seq techniques to large‐scale clinical phenotypic data enables the discovery of differential disease progression trajectories and the construction of data‐driven progression scores. These can then be integrated into precision medicine studies to investigate the drivers of patient‐specific disease outcomes. ABSTRACT We propose a
Christian Anderson, Liam Scott, Irene Leung, Ferenc Sallo, Catherine Egan, Tunde Peto, The MacTel Consortium, Melanie Bahlo, Martin Friedlander, Simone Tzaridis, Lea Scheppke, Roberto Bonelli   +11 more
wiley   +1 more source

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source

Transcranial Color‐Coded Duplex Sonography in Large‐Vessel Vasculitis Compatible With Takayasu Arteritis Presenting Intracranial Involvement and Vertebrobasilar Dolichoectasia: A Case Report

Journal of Clinical Ultrasound, EarlyView.
This case illustrates sequential intracranial occlusions in large‐vessel vasculitis compatible with Takayasu arteritis preserving perfusion through robust collateral pathways. Transcranial color‐coded duplex sonography identified characteristic blunted flow patterns and focal turbulence, underscoring its value in detecting hemodynamic compromise beyond
Maria Júnia Lira e Silva, Jordana Gaudie Gurian, Isabella Mesquita Venâncio, Eva Carolina Rocha, Gisele Sampaio Silva   +4 more
wiley   +1 more source

Point‐Of‐Care Ultrasound in Emergency Departments in Australia/New Zealand: An Emergency Physician's Perspective

Journal of Medical Radiation Sciences, Volume 72, Issue 1, Page 3-7, March 2025.
This brief overview of the current state of clinician performed focused ultrasound (Emergency PoCUS) by emergency practitioners in Australia/New Zealand (ANZ) has touched on its history, scope of practice both mandated and context‐dependent, complex embedding in clinical diagnostic reasoning and range of governance issues.
Robyn Brady
wiley   +1 more source

European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction‐associated steatotic liver disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common reason for elevated liver enzymes in children in Europe, affecting more than 5% of all children. Since the last iteration of this position paper, there have been substantial advances in our understanding of the disease.
Jake P. Mann, Sander Lefere, Maarten Buytaert, Anna Alisi, Cigdem Arikan, Jernej Brecelj, Rachel M. Brown, Irene Degrassi, Giulia Fiore, Emer Fitzpatrick, Sven Francque, Christian A. Hudert, Wojciech Janczyk, Lauren Johansen, Bart G. Koot, Anastasia Konidari, Eberhard Lurz, Claudia Mandato, Maria Mercadal‐Hally, Hadar Moran‐Lev, Antonella Mosca, Giusy Ranucci, Maria Rogalidou, Penelope C. Rose, Piotr Socha, Pietro Vajro, Elvira Verduci, Anita C. E. Vreugdenhil, Natalia Zavhorodnia, Aglaia Zellos, Ruth De Bruyne   +30 more
wiley   +1 more source

From nature to nanoscale: advances, challenges, and preclinical translation of nanofiber drug delivery systems containing plant‐derived active ingredients

Journal of the Science of Food and Agriculture, EarlyView.
Abstract Since the early 1960s, nanotechnology has been a critical area of science, allowing for the development of sophisticated nanomaterials. Nanofibers, one of the most widely used nanotechnological drug delivery systems, have emerged as a highly versatile platform within modern pharmaceutical sciences.
Heybet Kerem Polat, Yasin Turanlı, Nihat Kurt, Sefa Gözcü, Emre Tunçel, Hilal Bacanak, Eren Aytekin, Sedat Ünal   +7 more
wiley   +1 more source

Ocular Color Doppler Ultrasound (OCDUS) in Diagnosis and Monitoring of Ophthalmological, Cerebrovascular and Systemic Diseases: A Narrative Review. [PDF]

J Clin Med
Venturini M, Malnati S, Catania NT, Coppola A, Recaldini C, Gnesutta A, Ciani M, Tamietti S, Simonini E, Cappelli A, Donati S, Piacentino F, Fontana F.   +12 more
europepmc   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Rhegmatogenous Retinal Detachment Associated With a Retinal Tear Overlying a Choroidal Nevus. [PDF]

Case Rep Ophthalmol Med
Mylonas G, Reiter GS, Ritter M, Deak GG, Reumueller A, Pollreisz A, Sacu S, Georgopoulos M.   +7 more
europepmc   +1 more source

Capsulotomy With Supine Nd:YAG Laser in Children

Lasers in Surgery and Medicine, EarlyView.
ABSTRACT Objectives To evaluate the visual outcomes of Nd:YAG laser posterior capsulotomy performed in the supine position under general anesthesia in children with visual axis opacification after cataract surgery. Materials and Methods A retrospective clinical case series of 13 eyes of 9 children with visual axis opacification following congenital ...
Nike Klun, Manca Tekavčič Pompe
wiley   +1 more source