Results 161 to 170 of about 123,268 (305)

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

Nurses' experiences of end-of-life communication with children who have life-threatening conditions in paediatric intensive care units: a qualitative descriptive study. [PDF]

BMC Palliat Care
Dönmez ÇF, Kara R, Muslu K, Johnston B.   +3 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

Identifying Low Value Care Practices in UK Paediatric Intensive Care Units in 2025: A Delphi Study. [PDF]

Nurs Crit Care
Tume LN, Kenworthy L, Alexander EC, Mitting R, Sefton G, Jones A, Paediatric Critical Care Society De‐Implementation Working group.   +6 more
europepmc   +1 more source

G‐CSF for Mobilizing CD34+ Cells in Individuals With SCD: A Word of Caution

American Journal of Hematology, EarlyView.
Akshay Sharma, Allistair Abraham, Monica Bhatia, María Cancio, Sonali Chaudhury, Selim Corbacioglu, Gregory M. T. Guilcher, Ashish O. Gupta, Rabi Hanna, Matthew M. Heeney, Tami John, Lakshmanan Krishnamurti, James L. LaBelle, Hemalatha G. Rangarajan, Shalini Shenoy, Elizabeth Stenger, Crawford Strunk, Courtney D. Fitzhugh   +17 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Family Functioning and Parent Behavioural Changes Post-Admission to the Paediatric Intensive Care Unit: A Single-Centre Cohort Study. [PDF]

Nurs Crit Care
Charles KR, Dow B, Schults JA, Stocker C, Anthony L, Minogue J, Gibbons KS, Long D.   +7 more
europepmc   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Our recommendations for acute management of COVID-19

Critical Care, 2020
Francesco Mojoli, Silvia Mongodi, Anita Orlando, Eric Arisi, Marco Pozzi, Luca Civardi, Guido Tavazzi, Fausto Baldanti, Raffaele Bruno, Giorgio Antonio Iotti, COVID-19 Pavia Crisis Unit   +10 more
doaj   +1 more source

Predictors of mortality in children with community-acquired pneumonia admitted to paediatric intensive care units in Sri Lanka: a retrospective, multi-center cohort study. [PDF]

BMC Pediatr
Liyanage G, Jayarathne R, Adihetti D, Premachandra K, Jayawardana P, Abewardana S, Kudagammana T.   +6 more
europepmc   +1 more source