Results 141 to 150 of about 258,267 (305)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Assessment of left atrial function by two-dimensional speckle tracking echocardiography in patients with metabolic-associated fatty liver disease

The Egyptian Heart Journal
Background Metabolic-associated fatty liver disease (MAFLD) and cardiovascular diseases have mutual risk factors that contribute to pathogenic processes, increasing mortality and morbidity. This study aimed to evaluate variations in left ventricular (LV)
Sara I. El Sharkawy, Yousra Aboulenien, Basma Elnagar, Walaa Elkhalawany, Rehab Badawi   +4 more
doaj   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Left atrial reservoir strain as a predictor for left ventricular filling pressure in patients with sinus rhythm

Scientific Reports
We aimed to evaluate the utility of left atrial reservoir strain (LASr) as a predictor of left ventricular (LV) filling pressure measured via catheterization in patients with sinus rhythm.
Minkwan Kim, Ji Woong Roh, Nak-Hoon Son, SungA Bae, Oh-Hyun Lee, In Hyun Jung, Deok-Kyu Cho   +6 more
doaj   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Isovolumic relaxation strain imaging is an accurate and sensitive approach for detection of active diastolic dysfunction: A preclinical study

Animal Models and Experimental Medicine, EarlyView.
A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang, Juncheng Wang, Jun Cheng, Yanggan Wang   +3 more
wiley   +1 more source

Right Atrial Size and Function in Patients with Pulmonary Hypertension Associated with Disorders of respiratory System or Hypoxemia [PDF]

, 2007
Cioffi G, DE SIMONE, GIOVANNI, Mureddu G, Stefenelli C., Tarantini L   +4 more
core   +1 more source

Optimization and verification of high‐fat diet formulation for establishing a rat model of obesity‐related precocious puberty

Animal Models and Experimental Medicine, EarlyView.
We identified 45% HFD as the optimal formulation to establish a juvenile rat model of obesity‐related precocious puberty. It elicits robust phenotypic (early vaginal opening, obesity), histological (advanced ovarian development), and endocrine (elevated HPG axis hormones) alterations, with leptin‐mediated GnRH secretion as a core mechanistic driver ...
Jiayi Gong, Wei Qian, Deji Song, Kang Li, Li Zhang, Li Shi   +5 more
wiley   +1 more source