Results 111 to 120 of about 4,986,038 (258)

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +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

Mitral and aortic valvular disease associated with benfluorex use.

, 2011
International audienceFenfluramine has been associated with an increased risk of pulmonary hypertension and valvular disease. Benfluorex is a fenfluramine derivative approved for the treatment of metabolic syndrome and type 2 diabetes mellitus.
Jobic, Yannick, Castellant, Philippe, Quintin-Roué, Isabelle, Etienne, Yves, Frachon, Irene, Fatemi, Marjaneh   +5 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Valvular Heart Disease in Non-Valvular Heart Failure Continuum: The Role of Cardiopulmonary Exercise Testing

Background/Objectives: Patients with non-valvular heart failure frequently develop valvular disease. However, the prevalence of valvular disease across patients with different heart failure etiologies remains underexplored.
Chrysohoou, Christina, Kiriaki Mavromoustakou, Xydis, Panagiotis, Dimitriadis, Kyriakos, Leontsinis, Ioannis, Christina Chrysohoou, Konstantinos Tsioufis, Ioannis Leontsinis, Kyriakos Dimitriadis, Mavromoustakou, Kiriaki, Iliakis, Panagiotis, Michail Botis, Panagiotis Xydis, Tsioufis, Konstantinos, Panagiotis Iliakis, Botis, Michail   +15 more
core   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Temperature‐Controlled Radiofrequency for Severe Nasal Airway Obstruction: A Non‐Inferiority Comparison With Surgical Intervention

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Temperature‐controlled radiofrequency (TCRF), septoplasty (ST) with turbinate reduction, and functional rhinoplasty (FR) are treatment options for nasal airway obstruction (NAO) and nasal valve dysfunction (NVD), but no direct comparison of these procedures has been performed. Methods This prospective, open‐label, non‐inferiority (
Greg Davis, Zeeshan Aziz, Jose Barrera, William Blythe, Chris Davis, Steven Davis, Thomas Higgins, Charles Lano, Gregory Levitin, Frederick Lopatin, Samuel Oyer, Stacey Silvers, Ariel Waitzman, Randall Ow   +13 more
wiley   +1 more source

Coronary Artery Disease in Rheumatic and Non-Rheumatic Valvular Heart Disease [PDF]

, 2018
Background:To study the prevalence of coronary artery disease (CAD) in patients undergoing valve surgery for rheumatic and non-rheumatic valvular heart disease.Methods: In this cross sectional study, 233 patients planned for valvular heart surgery and ...
 Uzma Gul,Asim Javed,Muhammad Abdus Salam Azad,Qaiser Khan,  Uzma Gul,Asim Javed,Muhammad Abdus Salam Azad,Qaiser Khan
core   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source