Results 101 to 110 of about 118,364 (315)

Construction and psychometric testing of the EMPATHIC questionnaire measuring parent satisfaction in the pediatric intensive care unit [PDF]

open access: yes, 2010
PURPOSE: To construct and test the reliability and validity of the EMpowerment of PArents in THe Intensive Care (EMPATHIC) questionnaire measuring parent satisfaction in the pediatric intensive care unit (PICU).
Hazelzet, J.A.   +66 more
core   +1 more source

Undetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young Children

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Hydroxyurea (HU) is the most widely prescribed disease‐modifying treatment in sickle cell disease (SCD), though treatment responses vary due to metabolism and adherence. We examined HU blood levels and treatment response in patients with homozygous sickle cell disease (HbSS).
Sigrid van der Veen   +26 more
wiley   +1 more source

Nursing in the Pediatric Intensive Care Unit [PDF]

open access: yesJournal of Pediatric Intensive Care, 2015
Andrea M, Kline-Tilford, Lauren, Sorce
openaire   +2 more sources

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio   +11 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Association of SCN1A Gene Polymorphisms with Sodium Valproate Resistance in Pediatric Epilepsy: A Retrospective Case-Control Study

open access: yesNeuropsychiatric Disease and Treatment
Huiyu Wang,* Tingting Geng,* Na Deng Department of Pediatric Intensive Care Unit, Shiyan Renmin Hospital, Hubei University of Medicine, Shiyan, Hubei Province, People’s Republic of China*These authors contributed equally to this ...
Wang H, Geng T, Deng N
doaj  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Diabetic ketoacidosis in a pediatric intensive care unit

open access: yesJornal de Pediatria, 2017
To describe the characteristics of children aged 0-14 years diagnosed with diabetic ketoacidosis and compare the following outcomes between children with prior diagnosis of type 1 diabetes mellitus and children without prior diagnosis of type 1 diabetes mellitus length of hospital stay, severity on admission, insulin dosage, time of continuous insulin ...
Lopes, Clarice L.S.   +3 more
openaire   +7 more sources

Melatonin status in pediatric intensive care patients with sepsis

open access: yes, 2012
PubMedID: 21478801OBJECTIVE: Considering the potential immunomodulatory role of melatonin and its direct antioxidant activity, disturbances of the melatonin secretion pattern in the septic conditions could be particularly unfavorable.
Reinsberg J.   +5 more
core   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

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