Results 81 to 90 of about 238,541 (307)

A review of the immunomodulating components of maternal breast milk and protection against necrotizing enterocolitis [PDF]

, 2019
Breast milk contains immunomodulating components that are beneficial to newborns during maturation of their immune system. Human breast milk composition is influenced by an infant\u27s gestational and chronological age, lactation stage, and the mother ...
Fiorentino, Jinquan, Lila S. Nolan, Misty Good, Moe-Byrne, Olivia B. Parks   +5 more
core   +2 more sources

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

The evidence for the benefits from breast milk in the neurodevelopment of premature babies – a review of the recent literature [PDF]

, 2018
Introduction. The brain in preterm babies is usually not fully developed and therefore early post-term events can have long-lasting neurodevelopment and cognitive outcomes. It is known that cerebral white matter connectivity is important for later intact
Paduraru, Danuta Iulia
core   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 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

Different Effects of Premature Infant Formula and Breast Milk on Intestinal Microecological Development in Premature Infants

Frontiers in Microbiology, 2020
Intestinal microecology has been shown to participate in the pathogenesis of many diseases through different pathways, and the intestinal microecology of premature infants is significantly different from full-term infants.
Cheng Chen, Qiuyue Yin, Hui Wu, Lei Cheng, Jung-Il Kwon, Juan Jin, Tongyan Han, Huilian Che   +7 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

The Effect of the Presence of A Support Nurse on the Safe Transition of Premature Infants from the Neonatal Intensive Care Unit to Home

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2020
BACKGROUND AND OBJECTIVE: Transferring a premature infant from the hospital to home is a burden for the family. One of the most important goals of the health system is to facilitate the transition of the infant.
M Namnabati, S Keyvanfar, AR Sadeghnia
doaj  

Neonatologie/Pädiatrie – Leitlinie Parenterale Ernährung, Kapitel 13 [PDF]

, 2009
There are special challenges in implementing parenteral nutrition (PN) in paediatric patients, which arises from the wide range of patients, ranging from extremely premature infants up to teenagers weighing up to and over 100 kg, and their varying ...
Bauer, Karl, Böhles, Hansjosef, Fusch, Christoph, Jochum, Frank, Koletzko, Berthold, Krawinkel, Michael, Krohn, Kathrin, Mühlebach, Stefan   +7 more
core