Results 131 to 140 of about 270,776 (287)

Effect of in-line filtration in newborns: study protocol of the Intravenous Neonatal Central Access Safety (INCAS) randomized controlled trial

open access: yesTrials
Background Particulate contamination due to infusion therapy (administration of parenteral nutrition and medications) carries a potential health risk for infants in neonatal intensive care units (NICUs). This particulate consists of metals, drug crystals,
Francesco Cresi   +10 more
doaj   +1 more source

Diversity of clonal types of Klebsiella pneumoniae causing infections in intensive care neonatal patients in a large urban setting. [PDF]

open access: yesBraz J Microbiol, 2019
Justo-da-Silva LH   +15 more
europepmc   +1 more source

Stressors of Parents of Hospitalized Preterm Infants: a study in Neonatal Intensive Care Unit of Afzalipour Hospital, Kerman, Iran [PDF]

open access: yes, 2015
Background: Birth is a pleasant event, but premature birth and subsequently neonate hospitalization in the neonatal intensive care unit, is stressful for parents.
Baniasadi, Hamideh   +2 more
core  

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican 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   +3 more
wiley   +1 more source

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

The effects of maternal voice on pain during placement of peripherally inserted central catheter in neonates

open access: yesFrontiers in Pain Research
BackgroundPeripherally inserted central catheter (PICC) are a necessary procedure for preterm newborns care. Despite the use of analgesic treatments, its insertion can be painful.
Audrey Flours   +10 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline   +3 more
wiley   +1 more source

The Demand for Health Inputs and Their Impact on the Black Neonatal Mortality Rate in the U.S. [PDF]

open access: yes
Relatively high birth rates among black adolescents and unmarried women as well as inadequate access to medical care are considered primary reasons why the black neonatal mortality rate is almost double that of whites.
Theodore J. Joyce
core  

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

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