Results 101 to 110 of about 5,999,607 (293)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Can Plasma ADAMTS13 Differentiate Patients With Pulmonary Arterial Hypertension From Other Forms of Pulmonary Hypertension and Dyspnea Control PatientsTake-Home Points

CHEST Pulmonary
Background: Multimarker panels of blood-borne biomarkers could aid in shortening the diagnostic delay of pulmonary arterial hypertension (PAH). Research Question: Can any of the 61 proteins included in the study, related to pathways known to be involved ...
Kriss Kania, MD, Abdulla Ahmed, MD, Salaheldin Ahmed, MD, Adam Engel Sällberg, MD, Karin Tran-Lundmark, MD, PhD, Jørn Carlsen, MD, PhD, Göran Rådegran, MD, DMSc, MSc Eng Phys   +6 more
doaj   +1 more source

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

Season of birth in valvular heart disease

, 2005
This study demonstrates seasonal variations of birth dates in children with congenital valvular heart disease and in adults dying from valvular heart disease.
Addor, Marie-Claude, Bosshardt, Mathias, Ajdacic-Gross, Vladeta, Bosshardt, Daniela, Lang, Phung, Gutzwiller, Felix, Bopp, Matthias; https://orcid.org/   +6 more
core   +2 more sources

VALVULAR DISEASE OF THE HEART IN TABES [PDF]

The Journal of Nervous and Mental Disease, 1895
n ...
openaire   +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

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

Circulating biomarkers in pulmonary arterial hypertension: State-of-the-art review and future directions

JHLT Open
Pulmonary arterial hypertension is a complex and heterogeneous condition, associated with a considerable diagnostic delay, diminished exercise capacity, and poor outcomes.
Salaheldin Ahmed, MD, Abdulla Ahmed, MD, Göran Rådegran, MD, DMSc, MSc Eng Phys   +2 more
doaj   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

Valvular heart disease: A perspective

Journal of the American College of Cardiology, 1983
Valve replacement has been one of the most important advances in the management of patients with valvular heart disease. The 10 and 15 year survival rate after isolated aortic and mitral valve replacement with the Starr-Edwards valve is 56 and 44%, respectively.
openaire   +2 more sources