Results 221 to 230 of about 5,932,451 (312)

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Bridging Parental Perceptions and Experiences of Family-Centered Care in the Pediatric Intensive Care Unit: A Mixed-Methods Study. [PDF]

J Clin Nurs
Azak M, Yörür N, Cafrı İ, Korkmaz N.
europepmc   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

A contemporary overview of severe community-acquired bacterial infections in pediatric intensive care units. [PDF]

Ann Intensive Care
Levy M, Mary A, Cour Andlauer F, Rousseaux J, Berthomieu L, Brehin C, Bechet S, Sierra-Colomina M, Aupiais C, Angoulvant F, Launay E, Dubois D, Cohen R, Leteurtre S, CAPRICE Study Group, Levy C, Javouhey E.   +16 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Assessment of Electronic Clinical Monitoring Systems in the Pediatric Intensive Care Unit: Prospective Concordance Study. [PDF]

JMIR Form Res
Pham D, Tachinardi P, Bulgarelli L, Dos Reis Lucena W, Mendonca E, Rogerson C.   +5 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Antifungal Stewardship in the Pediatric Intensive Care Unit: Time is of the Essence. [PDF]

Infect Drug Resist
Chorafa E, Iosifidis E, Tzika C, Papathanasiou AI, Roilides E.   +4 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Pediatric intensive care follow-up in Germany is rarely established and highly heterogeneous: a nationwide survey of 20 PICUs. [PDF]

Mol Cell Pediatr
Goretzki SC, Biedermann R, Brenner S, Daniels A, Dohna-Schwake C, Fiedler K, Fortmann I, Fuchs H, Giese S, Heimann K, Härtel C, Hort S, Irlbeck S, Lampe S, Lieftüchter V, Masjosthusmann K, Merker M, Overberg D, Reiss I, Sentner CP, Soler Wenglein J, Heuvel IVD, Vierzig A, Warncke G, Westhoff JH, Mand N, Bruns N, Section of Pediatric Intensive Care, Emergency Medicine of the German Interdisciplinary Association of Intensive Care, Emergency Medicine (DIVI).   +29 more
europepmc   +1 more source