Results 91 to 100 of about 219,424 (290)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

The fall and rise of US inequities in premature mortality: 1960-2002.

PLoS Medicine, 2008
BackgroundDebates exist as to whether, as overall population health improves, the absolute and relative magnitude of income- and race/ethnicity-related health disparities necessarily increase-or decrease.
Nancy Krieger, David H Rehkopf, Jarvis T Chen, Pamela D Waterman, Enrico Marcelli, Malinda Kennedy   +5 more
doaj   +1 more source

Probiotic administration in congenital heart disease: a pilot study. [PDF]

, 2013
ObjectiveTo investigate the impact of probiotic Bifidobacterium longum ssp. infantis on the fecal microbiota and plasma cytokines in neonates with congenital heart disease.Study designSixteen infants with congenital heart disease were randomly assigned ...
Bokulich, NA, Ellis, CL, Elumalai, J, Haapanen, L, Kalanetra, KM, Mills, DA, Mirmiran, M, Raff, G, Rutledge, JC, Schegg, T, Underwood, MA   +10 more
core   +2 more sources

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

The effectiveness of video interaction guidance in parents of premature infants: A multicenter randomised controlled trial

BMC Pediatrics, 2012
Background Studies have consistently found a high incidence of neonatal medical problems, premature births and low birth weights in abused and neglected children.
Tooten Anneke, Hoffenkamp Hannah N, Hall Ruby AS, Winkel Frans, Eliëns Marij, Vingerhoets Ad JJM, van Bakel Hedwig JA   +6 more
doaj   +1 more source

Smartphone-Based Prenatal Education for Parents with Preterm Birth Risk Factors [PDF]

, 2018
Objective To develop an educational mobile application (app) for expectant parents diagnosed with risk factors for premature birth. Methods Parent and medical advisory panels delineated the vision for the app.
Ahamed, Sheikh Iqbal, Barnekow, K., Basir, M. A., Dreier, S., Hasan, Md Kamrul, Jones, C., Kim, U. Olivia, Taylor, M.   +7 more
core   +1 more source

"A roller coaster of emotions": a qualitative study of parents very first experiences with their preterm baby [PDF]

, 2013
Objectives: To assess parents 19 first experiences of their very preterm babies and the neonatal intensive care unit (NICU). Design: Qualitative study using semistructured interviews. Participants: 32 mothers and 7 fathers of very preterm babies (
Abbott, Jane, Arnold, Leah, Ayers, Susan, Duley, Leila, Gyte, Gillian, Rabe, Heike, Sawyer, Alexandra   +6 more
core   +1 more source

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

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

Inhaled nitric oxide in premature infants: effect on tracheal aspirate and plasma nitric oxide metabolites. [PDF]

, 2010
ObjectiveInhaled nitric oxide (iNO) is a potential new therapy for prevention of bronchopulmonary dysplasia and brain injury in premature infants. This study examined dose-related effects of iNO on NO metabolites as evidence of NO delivery.Study designA ...
Ballard, PL, Ballard, RA, Cnaan, A, Golombek, SG, Gow, AJ, NO CLD Investigators, Posencheg, MA, Truog, WE   +7 more
core