Results 31 to 40 of about 48,225 (279)

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

Advanced 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, Xingwei Zhao, Qiuting Li, Yang Yu, Chunxiang Zhang   +4 more
wiley   +1 more source

Transcatheter closure for decompression sickness with a patent foramen ovale: A case report

Journal of Interventional Medicine, 2021
A patent foramen ovale is one of the predisposing factors of neurotic decompression sickness. Transcatheter closure of a patent foramen ovale is effective in the secondary prevention of decompression sickness associated with intracardiac shunt.
Fenglin Jiang
doaj   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

A soldier's return to duty after minimally invasive correction of complex congenital cardiovascular disease

Clinical Case Reports, 2023
We report a case of incidental detection of severe aortic coarctation, severe secundum atrial septal defect, and bicuspid aortic valve in an active‐duty military service member.
Tarin Phillips, Adam Kisling, Robert Gallagher   +2 more
doaj   +1 more source

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

American 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, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

Journal of the American Heart Association, EarlyView., 2021
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon   +14 more
wiley   +1 more source

Familial secundum atrial septal defect with dysrhythmia associated with web neck

The Turkish Journal of Pediatrics, 2002
Most cases of atrial septal defect occur sporadically, but a few families have the defect as a genetic abnormality. A family having familial type secundum atrial septal defect with dysrhythmia associated with web neck is reported.
Zübeyir Kiliç, Birsen Uçar, Ferruh Baş, Ener Cağri Dinleyici, Ersin Sari   +4 more
doaj  

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Atrial Septal Defect secundum with inferior floppy rim in the elderly: surgical closure or transcatheter closure? A case report

Journal of the Pakistan Medical Association
Atrial Septal Defect closure in childhood and early adulthood has a good prognosis, but in older individuals the risk-benefit ratio is not as straightforward. We report a 57-year-old man who was easily fatigued when exercising.
Irawati Hajar Kikuko, Achmad Lefi, Steve Freyssinet Karundeng, Agus Subagjo, A’ Rofah Nurlina Puspitasari, Alqi Yutha   +5 more
doaj   +1 more source