Results 71 to 80 of about 330,544 (344)

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source

Postnatal Cardiac Autonomic Nervous Control in Pediatric Congenital Heart Disease

Journal of Cardiovascular Development and Disease, 2016
Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon.
Ineke Nederend, Monique R. M. Jongbloed, Eco J. C. de Geus, Nico A. Blom, Arend D. J. ten Harkel   +4 more
doaj   +1 more source

Large Language Model‐Based Chatbots in Higher Education

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
The use of large language models (LLMs) in higher education can facilitate personalized learning experiences, advance asynchronized learning, and support instructors, students, and researchers across diverse fields. The development of regulations and guidelines that address ethical and legal issues is essential to ensure safe and responsible adaptation
Defne Yigci, Merve Eryilmaz, Ail K. Yetisen, Savas Tasoglu, Aydogan Ozcan   +4 more
wiley   +1 more source

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

SPECTRUM OF CONGENITAL HEART DISEASES IN BASRA: AN ECHOCARDIOGRPHY STUDY [PDF]

The Medical Journal of Basrah University, 2009
This is a retrospective study that was set out to describe the spectrum of congenital heart disease using echocardiography in two main centers in Basra over a period of 24 months from June (2006-2008).
Jawad Khadim, Sawsan Issa
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

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

Down syndrome: Prevalence and distribution of congenital heart disease in Brazil

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the
Beatriz Elizabeth Bagatin Veleda Bermudez, Sandra Lira Medeiros, Mariane Bagatin Bermudez, Iolanda Maria Novadzki, Neiva Isabel Rodrigues Magdalena   +4 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Pattern of cognenital heart disease at Lady Reading Hospital, Peshawar

Gomal Journal of Medical Sciences, 2012
Background: Congenital heart disease is a defect in the structure of heart and great vessels present at birth. Early recognition will help to treat the child and if possible get corrective surgery done.
Inayatullah Khan, Amir Muhammad, Taj Muhammad   +2 more
doaj