Results 211 to 220 of about 2,178,409 (393)
Impacto del diagnóstico prenatal en la incidencia al nacer de defectos congénitos
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016 Fundamento: los estudios de prevalencia de defectos congénitos permiten evaluar los resultados de los programas y trazar estrategias.Objetivo: describir el impacto de los programas del diagnóstico prenatal en la incidencia al nacer de defectos congénitos,
Nora María Orive Rodríguez +1 more
doaj
FetalFlex: Anatomy-Guided Diffusion Model for Flexible Control on Fetal Ultrasound Image Synthesis [PDF]
arXivFetal ultrasound (US) examinations require the acquisition of multiple planes, each providing unique diagnostic information to evaluate fetal development and screening for congenital anomalies. However, obtaining a comprehensive, multi-plane annotated fetal US dataset remains challenging, particularly for rare or complex anomalies owing to their low ...
arxiv
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis +12 more
wiley +1 more source
Clinical Cardiology, Volume 45, Issue 12, Page 1184-1191, December 2022., 2022 Abstract Background As previously reported, impairment of left ventricular global longitudinal strain (LVGLS) is associated with myocardial fibrosis, arrhythmias, and heart failure in hypertrophic cardiomyopathy (HCM) patients. Hypothesis This study aimed to estimate the association between LVGLS measured by echocardiography and major adverse ...
Ying Yang +3 more
wiley +1 more source
Congenital abnormalities in dead-in-shell chicks associated with mixed bacterial infections. [PDF]
Heliyon, 2021 Hananeh WM +4 more
europepmc +1 more source
HSDreport: Heart Sound Diagnosis with Echocardiography Reports [PDF]
arXivHeart sound auscultation holds significant importance in the diagnosis of congenital heart disease. However, existing methods for Heart Sound Diagnosis (HSD) tasks are predominantly limited to a few fixed categories, framing the HSD task as a rigid classification problem that does not fully align with medical practice and offers only limited ...
arxiv
Congenital Abnormality of Spine [PDF]
Proceedings of the Royal Society of Medicine, 1933 F. W. M. Pratt, Pearse Williams
openaire +3 more sources
Persistent Erythematous Telangiectatic Condition of Feet, Associated with a Congenital-Developmental Abnormality of Body-Build Allied to Arachnodactylia [PDF]
, 1933 Florian Weber
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson +14 more
wiley +1 more source