Results 81 to 90 of about 182,011 (335)

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

Portopulmonary hypertension practice patterns after liver transplantation

Liver Transplantation, EarlyView., 2022
Abstract Portopulmonary hypertension (POPH) is a type of pulmonary arterial hypertension occurring exclusively in those with portal hypertensive liver disease. Liver transplantation (LT) can significantly improve outcomes. Current guidelines counsel against immediate adjustments to targeted therapy after LT and suggest routine echocardiography as ...
Arun Jose, Elizabeth J. Kopras, Shimul A. Shah, Jean M. Elwing   +3 more
wiley   +1 more source

Cardiovascular health in pediatric patients with X-linked hypophosphatemia under two years of burosumab therapy

Frontiers in Endocrinology
IntroductionX-linked hypophosphatemia (XLH) is caused by an inactivating mutation in the phosphate-regulating endopeptidase X-linked (PHEX) gene whose defective product fails to control phosphatonin fibroblast growth factor 23 (FGF23) serum levels ...
Avivit Brener, Avivit Brener, Roxana Cleper, Roxana Cleper, Guy Baruch, Guy Baruch, Ehud Rothschild, Ehud Rothschild, Michal Yackobovitch-Gavan, Gil Beer, Gil Beer, Leonid Zeitlin, Leonid Zeitlin, Livia Kapusta, Livia Kapusta, Livia Kapusta   +15 more
doaj   +1 more source

Acute onset of refractory hypoxemia: A rare hemodynamic cause of dyspnea

Indian Journal of Respiratory Care, 2019
Platypnea-orthodeoxia syndrome (POS) is a rare condition of positional dyspnea with hypoxemia that can pose a diagnostic challenge to clinicians. We report two cases of POS with different pathophysiologic triggers and similar clinical features.
Tommaso Valobra, Umberto Ceratti, Alessandra Cernuschi   +2 more
doaj   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Assessment of Cardiovascular Functioning Among Regular Kratom (Mitragyna speciosa Korth) Users: A Case Series

Frontiers in Pharmacology, 2021
Multiorgan toxicities have been extensively reported in kratom (Mitragyna speciosa Korth) users in Western countries but not in Southeast Asia. Existing literature argued that this discrepancy may be due to underreporting of kratom-related toxicity cases
Mohammad Farris Iman Leong Bin Abdullah, Darshan Singh   +1 more
doaj   +1 more source

Non-infectious pulmonary complications of hematopoietic stem cell transplantation [PDF]

, 2014
Noninfectious pulmonary complications of hematopoietic stem cell transplant are currently more prevalent than infectious complications. Unfortunately, the pathophysiology basis is not completely understood.
Baloglu, Orkun, McArthur, Jennifer, Rowan, Courtney   +2 more
core   +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

Role of Imaging in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy in Presence of Congenital Heart Disease

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging, 2021
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an underdiagnosed entity manifesting with arrhythmia, heart failure and sometimes with sudden cardiac death.
Anil Kumar Singhi, Anup Bhargava, Sanjeev S. Mukherjee, Soumya Kanti Mohapatra, Rabin Chakraborty   +4 more
doaj   +1 more source

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