Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case reportSpringer Science and Business Media LLC - Tập 7 - Trang 1-6 - 2020
Nami Mohammadian Khonsari, Sahar Mohammad Poor Nami, Benyamin Hakak-Zargar, Tessa Voth
Linear bone growth is achieved by the division of chondrocytes at the growth
plate and is regulated by endocrine and paracrine factors such as growth
hormone. Mutations that negatively affect chondrogenesis can be a contributor to
short stature. One such mutation can occur in the ACAN gene, causing short
stature and advanced bone age. Similarly, mutations in growth hormone receptors
(GHR) can lead... hiện toàn bộ
Milk glucosidase activity enables suckled pup starch digestionSpringer Science and Business Media LLC - Tập 3 - Trang 1-6 - 2016
B. L. Nichols, M. Diaz-Sotomayor, S. E. Avery, S. K. Chacko, D. L. Hadsell, S. S. Baker, B. R. Hamaker, L. K. Yan, H. M. Lin, R. Quezada-Calvillo
Starch requires six enzymes for digestion to free glucose: two amylases
(salivary and pancreatic) and four mucosal maltase activities;
sucrase-isomaltase and maltase-glucoamylase. All are deficient in suckling
rodents. The objective of this study is to test 13C-starch digestion before
weaning by measuring enrichment of blood 13C-glucose in
maltase-glucoamylase-null and wild-type mice. Maltase-gluc... hiện toàn bộ
Complementary foods in baby food pouches: position statement from the Nutrition Commission of the German Society for Pediatrics and Adolescent Medicine (DGKJ, e.V.)Springer Science and Business Media LLC - Tập 6 Số 1 - 2019
Berthold Koletzko, Christoph Bührer, Regina Ensenauer, Frank Jochum, Hermann Kalhoff, Burkhard Lawrenz, Antje Körner, Walter Mihatsch, Silvia Rudloff, Klaus‐Peter Zimmer
Renal consequences of preterm birthSpringer Science and Business Media LLC - Tập 4 - Trang 1-9 - 2017
Amelie Stritzke, Sumesh Thomas, Harish Amin, Christoph Fusch, Abhay Lodha
The developmental origin of health and disease concept identifies the brain,
cardiovascular, liver, and kidney systems as targets of fetal adverse
programming with adult consequences. As the limits of viability in premature
infants have been pushed to lower gestational ages, the long-term impact of
prematurity on kidneys still remains a significant burden during hospital stay
and beyond. The purpo... hiện toàn bộ
Leukocyte recruitment in preterm and term infantsSpringer Science and Business Media LLC - Tập 3 - Trang 1-5 - 2016
Katinka Karenberg, Hannes Hudalla, David Frommhold
Impaired cellular innate immune defense accounts for susceptibility to sepsis
and its high morbidity and mortality in preterm infants. Leukocyte recruitment
is an integral part of the cellular immune response and follows a well-defined
cascade of events from rolling of leukocytes along the endothelium to firm
adhesion and finally transmigration which is concerted by a variety of adhesion
molecules... hiện toàn bộ
Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)Springer Science and Business Media LLC - Tập 8 - Trang 1-6 - 2021
Stefan Kohl, Sandra Habbig, Lutz T. Weber, Max C. Liebau
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 0.5–1/100
newborns and as a group they represent the most frequent cause for chronic
kidney failure in children. CAKUT comprise clinically heterogeneous conditions,
ranging from mild vesicoureteral reflux to kidney aplasia. Most forms of CAKUT
share the pathophysiology of an impaired developmental interaction of the
ureteric bud... hiện toàn bộ