Results 71 to 80 of about 1,882,183 (334)

Building an Intelligent Cardiovascular System Platform: Embedding Artificial Intelligence across All Facets of Cardiovascular Medicine

open access: yesAdvanced Intelligent Systems, EarlyView.
This paper presents an integrated AI‐driven cardiovascular platform unifying multimodal data, predictive analytics, and real‐time monitoring. It demonstrates how artificial intelligence—from deep learning to federated learning—enables early diagnosis, precision treatment, and personalized rehabilitation across the full disease lifecycle, promoting a ...
Mowei Kong   +4 more
wiley   +1 more source

Stop Calling Me Cavernous Hemangioma! A Literature Review on Misdiagnosed Bony Vascular Anomalies

open access: yesJournal of Investigative Surgery, 2022
Vascular malformations of the bone most often involve the cranio-facial area. Even in relevant peer reviewed journals, venous malformations are often misdiagnosed as “hemangiomas” or “angiomas” of the bone.
Carlotta Liberale   +5 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Verrucous venous malformation [PDF]

open access: yes, 2019
Verrucous venous malformation, also known as verrucous hemangioma, is a superficial vascular malformation with a variable degree of hyperkeratosis that is composed of capillaries and veins in the dermis and sometimes subcutaneous tissue. We describe a 53-
Kim, Gene H   +2 more
core  

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti   +14 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

Natural History of Asymptomatic and Unrepaired Vascular Rings: Is Watchful Waiting a Viable Option? A New Case and Review of Previously Reported Cases

open access: yesChildren, 2016
Vascular rings are a rare form of congenital heart disease in which abnormal aortic arch anatomy leads to encircling of the esophagus and/or trachea by the aortic vasculature. Symptoms can develop from this and prompt the need for surgery.
Rohit S. Loomba
doaj   +1 more source

Evaluation of serum lidocaine/monoethylglycylxylidide concentration to assess shunt closure in dogs with extrahepatic portosystemic shunts

open access: yesJournal of Veterinary Internal Medicine, 2021
Background Liver function tests do not always normalize despite successful attenuation of extrahepatic portosystemic shunts (EHPSS). Objectives Assess the lidocaine/monoethylglycylxylidide (MEGX) test to determine liver perfusion after EHPSS closure ...
Nausikaa Devriendt   +7 more
doaj   +1 more source

Hyperekplexia in a patient with a brainstem vascular anomaly

open access: yesActa Neurologica Scandinavica, 1999
Objectives – To describe a patient with a clinical picture suggestive of idiopathic hyperekplexia (IH), who was later found to harbour a subtle brainstem vascular anomaly. Patient – A 35‐year‐old man, 4 years earlier, developed sudden jumping and falling
A. Gambardella   +10 more
semanticscholar   +1 more source

Cerebral Cavernous Malformations, Developmental Venous Anomaly, and Its Coexistence: A Review

open access: yesEuropean Neurology, 2020
Background: Cerebral cavernous malformations (CCMs) are intracranial vascular malformations that can exist as a single lesion or mixed vascular lesions. The most common mixed form is the coexistence of CCM with an associated developmental venous anomaly (
P. Idiculla   +4 more
semanticscholar   +1 more source

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