Results 71 to 80 of about 237,860 (306)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Neonatal Cortical Auditory Evoked Potentials Are Affected by Clinical Conditions Occurring in Early Prematurity [PDF]

, 2015
Purpose: Cortical auditory evoked potentials may serve as an early indicator of developmental problems in the auditory cortex. The aim of the study was to determine the effect on neonatal cortical auditory processing of clinical conditions occurring in ...
Bisiacchi, Patrizia, Cainelli, Elisa, Cappellari, Ambra, Ermani, Mario, Sartori, Stefano, Suppiej, Agnese   +5 more
core   +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

Cerebral autoregulation, brain injury, and the transitioning premature infant [PDF]

, 2017
Improvements in clinical management of the preterm infant have reduced the rates of the two most common forms of brain injury, such as severe intraventricular hemorrhage and white matter injury, both of which are contributory factors in the development ...
Mathur, Amit M, Vesoulis, Zachary A
core   +3 more sources

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source

Opposing consensus science through scholarly practices: The role of claims maintenance

Journal of the Association for Information Science and Technology, EarlyView.
Abstract This study examines how three US‐based communities who oppose consensus science produce and disseminate scholarly‐like artifacts: pro‐life activists, Young Earth Creationists, and Anthropogenic Climate Crisis skeptics. Prior research shows that industry‐ or church‐backed advocacy campaigns often generate claims supported by these communities ...
Irene V. Pasquetto, Morgan Wofford, Claire Jordan, Andrea Thomer   +3 more
wiley   +1 more source

Myocardial Function Maturation in Very-Low-Birth-Weight Infants and Development of Bronchopulmonary Dysplasia [PDF]

, 2019
Background: Myocardial function in very-low-birth-weight infants (VLBWIs) develops during early postnatal life, but different patterns of temporal evolution that might be related to the development of bronchopulmonary dysplasia (BPD) are not completely ...
Benavente Fernández, Isabel, Lubián López, Simón Pedro, Méndez Abad, Paula, Zafra Rodríguez, Pamela   +3 more
core   +2 more sources

Effect of developmental changes on pharmacokinetics of drugs used in the treatment of infant acute lymphoblastic leukaemia—A comprehensive review

British Journal of Clinical Pharmacology, EarlyView.
While the event‐free survival (EFS) of children treated for acute lymphoblastic leukaemia (ALL) has improved greatly in the last decades, the EFS for patients diagnosed with ALL before the age of one is still under 50%. This outcome further decreases when infants have a rearrangement in the gene encoding histone‐lysine N‐methyltransferase 2A (KMT2A ...
Tirsa de Kluis, Leiah J. Brigitha, Lidwien M. Hanff, Alwin D. R. Huitema, Inge M. van der Sluis, Meta H. M. Diekstra   +5 more
wiley   +1 more source

A comparative analyses of lipid ratios representing desaturase enzyme activity between preterm and term infants within the first ten weeks of life

Lipids in Health and Disease, 2023
Background Desaturase enzymes play a key role in several pathways including biosynthesis of poly- and mono- unsaturated fatty acids (PUFAs, MUFA). In preterm infants, desaturase enzyme activity (DA) may be a rate-limiting step in maintaining PUFAs levels
Hanis Hidayu Kasim, Laurentya Olga, Stuart Snowden, Eliza Cropp, Albert Koulman, Kathryn Beardsall   +5 more
doaj   +1 more source

Pentoxifylline dose finding trial in preterm neonates with suspected late onset sepsis (PTX‐trial)

British Journal of Clinical Pharmacology, EarlyView.
Aim The aim of this study (PTX‐trial) is to determine the optimal dose of pentoxifylline (PTX) in preterm neonates (gestational age < 30 weeks) with (suspected) late onset sepsis (LONS). Methods The PTX‐trial is a prospective multicentre open‐label sequential dose‐optimization study with an adapted continual reassessment method.
Serife Kurul, H. Rob Taal, Jan Mazela, Ryszard Lauterbach, Irwin K. M. Reiss, Karel Allegaert, Robert B. Flint, Sinno H. P. Simons   +7 more
wiley   +1 more source