Results 71 to 80 of about 96,832 (346)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Transmission of biological maternal sounds does not interfere with routine NICU care: assessment of dose variability in very low birth weight infants

Journal of Pediatric and Neonatal Individualized Medicine, 2012
Maternal auditory stimulation is playing an increasing role in neonatal critical care. The goal of this study was to determine the dose variability in the administration of Biological Maternal Sounds (BMS) in Very Low Birth Weight (VLBW) infants as part ...
Emily Zimmerman, Erin McMahon, Laura Doheny, Phil Levine, Amir Lahav   +4 more
doaj   +1 more source

Pharmacological errors in NICU [PDF]

Italian Journal of Pediatrics, 2014
Background Medical errors are particularly frequent in Neonatal Intensive Care Units (NICUs) [1], increasing morbidity and mortality of newborns [2]. This category of patients requires the application of high technology and needs individualized medical prescription mainly based on body weight and gestational age[3].
Virginia Garofalo, Andrea Dotta, Anna Portanova, Silvia Foligno   +3 more
openaire   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Development of care in the NICU [PDF]

Journal of Perinatology, 2014
The ongoing debate about developmental care for high-risk newborns1, 2, 3 is useful in that it encourages a careful review of the evidence, but there is a bigger picture that should be beyond debate: newborns cannot be fully understood if we only think of them as isolated biological organisms.
openaire   +3 more sources

Mental Health Symptoms and Work-Related Stressors in Hospital Midwives and NICU Nurses: A Mixed Methods Study

Frontiers in Psychiatry, 2018
Hospital midwives and neonatal intensive care (NICU) nurses frequently encounter work-related stressors and are therefore vulnerable to developing mental health problems, such as secondary traumatic stress, burnout, anxiety, and depression.
Céline Favrod, Lauranne Jan du Chêne, Chantal Martin Soelch, S. Garthus‐Niegel, J. Tolsa, Francois Legault, Virginie Briet, A. Horsch   +7 more
semanticscholar   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Neonatal thrombocytopenia

Journal of Pediatric Critical Care, 2019
Thrombocytopenia is a common problem in the Neonatal Intensive Care Unit (NICU). Traditionally defined at platelet counts of less than 1.5lakhs/mm3, it is a common observation that several healthy new-borns too have values below this threshold.
Somalika Pal, Ashish Jain
doaj   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Punctate White Matter Abnormality in Moderate‐to‐Late Preterm Infants

Annals of Neurology, EarlyView.
Objective Moderate‐to‐late preterm (MLP) infants contribute to the greatest proportion of preterm children with neurodevelopmental impairments. White matter injury (WMI) is common and predicts adverse outcomes in very preterm (VP) infants. However, little is known about white matter abnormality (WMA) in MLP infants.
Eleanor Kennedy, Ting Guo, Sian Williams, Thiviya Selvanathan, Jane M. Alsweiler, Frank H. Bloomfield, Malcolm Battin, David Dubowitz, Steven P. Miller, Catherine Morgan, David Perry, Ngaire Susan Stott, Jane E. Harding, for the MR DIAMOND and MoPED Study Groups   +13 more
wiley   +1 more source