Results 151 to 160 of about 329,701 (306)

Hidden Harlequin syndrome in neonatal and pediatric VA-ECMO

Critical Care, 2022
Yael Levy, Julie Starck, Anne-Lise Mary, Yohan Soreze, Sandrine Jean, Bernard Kreitmann, Pierre-Louis Léger, Jerome Rambaud   +7 more
doaj   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Clinical and Epidemiological Characteristics of Ventilator-associated Pneumonia in Pediatric Intensive Care Units. [PDF]

Adv Biomed Res
Babai S, Parastegari M, Zibanejad N.
europepmc   +1 more source

H1N1-Related Hemophagocytic Lymphohistiocytosis Complicated by Severe Rhabdomyolysis in a Pediatric Patient: A First Case Report

Case Reports in Pediatrics
Lucia Marseglia, Antonella Gambadauro, Federica Xerra, Annalisa Cacciola, Immacolata Rulli, Valeria Chirico, Raffaella Mallamace, Eloisa Gitto   +7 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Use of lorazepam for analgosedation during mechanical ventilation in pediatric intensive care. [PDF]

Front Med (Lausanne)
Healy P, Marano M, Montibeller M, Goffredo BM, Pontrelli G, Della Pasqua O.   +5 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

A Retrospective Epidemiological Study of Mortality in a Pediatric Intensive Care Unit: Trends, Causes, and Risk Factors (2014-2023). [PDF]

Children (Basel)
Zou Z, Cheng J, Xiong X, Chen D, Tan L, Li H.   +5 more
europepmc   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

A multi-feature method for real-time seizure detection in pediatric intensive care unit. [PDF]

Epilepsia Open
Sang T, Deng J, Zhao T, Zhang Q, Guan Q, Lei Y, Yan Y, Hong B, Wei N, Jiang Y, Wang Y.   +10 more
europepmc   +1 more source