Results 81 to 90 of about 200,292 (345)

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

Fatal postoperative Candida glabrata septicemia in a child with congenital heart disease

Journal of Global Infectious Diseases, 2009
The incidence of candidemia has been reported to be high in some cardiovascular surgery units. Congenital heart disease has been considered a risk factor for acquisition of candidemia.
Vasant Baradkar, Shripad Taklikar, Simit Kumar   +2 more
doaj   +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

Anatomy of a wrong diagnosis: false Sinus Venosus Atrial Septal Defect

Cardiovascular Ultrasound, 2003
In contrast with transthoracic echocardiography, transesophageal echocardiography provides a sure way to make the diagnosis of sinus venosus atrial septal defect; on the other hand this abnormality is more complex than that seen with the secundum atrial ...
Montresor Graziano, Gaibazzi Nicola, Poeta Maria   +2 more
doaj   +1 more source

A Rare Case of Severe Isolated Right Heart Failure with Secundum Type Atrial Septal Defect and Mitral Regurgitation Without Pulmonary Hypertension [PDF]

, 2023
Muhammad S Sabri, Faiza Riaz, Nain Tara, Maheen Anwar, Muhammad Usman Ghani Khan   +4 more
openalex   +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

Glucocorticoids for treating paediatric pulmonary hypertension: A novel use for a common medication [PDF]

, 2017
Laboratory investigations have shown the role of inflammation in the pathogenesis of pulmonary hypertension and improvement after anti-inflammatory drugs.
Aggarwal, Manish, Grady, Ronald M
core   +2 more sources

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Frequency and pattern of Congenital Heart Defects in children with Down’s Syndrome

Gomal Journal of Medical Sciences, 2012
Background: Patients with Down’s syndrome are prone to have congenital heart defects. This study was conducted to evaluate the frequency of various congenital heart defects in children with Down’s syndrome in Khyber Pukhtunkhwa province.
Inayatullah Khan, Taj Muhammad
doaj  

Cor triatriatum sinister with situs inversus totalis in an infant. [PDF]

, 2012
Cor triatriatum sinister is a rare congenital cardiac malformation characterized by a membrane in the left atrium which separates the left atrium into the proximal and distal chambers.Association of cor triatriatum is extremely rare with situs inversus
Gadekar, A., Meshram, Sushant, Pathak, Swanand, Taksande, Amar M.   +3 more
core   +1 more source