Results 81 to 90 of about 3,158 (217)

High protein intake can lead to serious hypophosphatemia and hypokalemia in growth restricted preterm newborns

JPGN Reports, Volume 5, Issue 1, Page 58-65, February 2024.
Abstract Objectives High protein parenteral nutrition (HPPN) in the early postnatal period is a recommended strategy for very low birth weight (VLBW) infants. However, limited data is available on electrolyte changes when HPPN strategy is utilized. We investigated the impact of HPPN on the development of hypophosphatemia and hypokalemia in preterm VLBW
Peter Korček, Zbyněk Straňák
wiley   +1 more source

De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies [PDF]

, 2013
BACKGROUND: Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical ...
Carol J Saunders, Darrell L Dinwiddie, Emily G Farrow, Laurie D Smith, Neil A Miller, Sarah E Soden, Stephen F Kingsmore   +6 more
core   +1 more source

Targeting of C‐ROS‐1 Activity Using a Controlled Release Carrier to Treat Craniosynostosis in a Preclinical Model of Saethre‐Chotzen Syndrome

Journal of Tissue Engineering and Regenerative Medicine, Volume 2024, Issue 1, 2024.
Saethre‐Chotzen syndrome (SCS) is one of the most prevalent craniosynostosis, caused by a loss‐of‐function mutation in the TWIST-1 gene, with current treatment options relying on major invasive transcranial surgery. TWIST-1 haploinsufficient osteogenic progenitor cells exhibit increased osteogenic differentiation potential due to an upregulation of the
Esther Camp, Laura Gonzalez Garcia, Clara Pribadi, Sharon Paton, Krasimir Vasilev, Peter Anderson, Stan Gronthos, Cherie L. Stabler   +7 more
wiley   +1 more source

Spring-assisted cranioplasty for isolated sagittal craniosynostosis: a retrospective review

Australasian Journal of Plastic Surgery
**Introduction**: Premature fusion of the sagittal suture is the most common form of non-syndromic single-suture craniosynostosis. Surgical correction in infancy is recommended to normalise skull morphology and allow normal brain development, but the ...
Jacqueline R Lim, Frederik Fried, Antony Gao, Christopher R Forrest, Damian D Marucci   +4 more
doaj   +1 more source

Conditional testing of multiple variants associated with bone mineral density in the FLNB gene region suggests that they represent a single association signal [PDF]

, 2013
Background: Low bone mineral density (BMD) is a primary risk factor for osteoporosis and is a highly heritable trait, but appears to be influenced by many genes.
Benjamin H Mullin, Cyril Mamotte, Frank Dudbridge, Richard L Prince, Scott G Wilson, Tim D Spector   +5 more
core   +2 more sources

Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin

International Journal of Genomics, 2013
Craniosynostosis is the premature fusion of the cranial vault sutures. We have previously described a colony of rabbits with a heritable pattern of nonsyndromic, coronal suture synostosis; however, the underlying genetic defect remains unknown.
Phillip H. Gallo, James J. Cray, Emily L. Durham, Mark P. Mooney, Gregory M. Cooper, Sandeep Kathju   +5 more
doaj   +1 more source

Anterior plagiocephaly with contralateral superior oblique overaction

Indian Journal of Ophthalmology, 2008
Anterior plagiocephaly is a craniofacial anomaly related to premature unilateral synostosis. We present three cases of anterior plagiocephaly with contralateral superior oblique dysfunction.
Jethani Jitendra, Dagar Abhishek, Vijayalakshmi P, Sundaresh K   +3 more
doaj  

Displasia diastrófica: diagnóstico pré-natal e revisão da literatura [PDF]

, 2013
CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Araujo Júnior, Edward, Bruns, Rafael Frederico, Ferrari, Lilian Pereira, Gründtner, Luciana Fernandes, Honório, Jonathan Celli, Nardozza, Luciano Marcondes Machado, Raskin, Salmo   +6 more
core   +2 more sources

Clinical applications of molecular basis for Craniosynostosis. A narrative review.

Journal of Oral Research, 2016
Cranial sutures are specialized structures composed of the sutural mesenchyme, the overlying scalp, the dura and osteogenic fronts. Each one of these structures express important proteins for osteogenic maturation, membranous ossification of skull bones,
Saúl Ernesto Cifuentes-Mendiola, Isaac Obed Pérez-Martínez, Ángel Enrique Muñoz-Saavedra   +2 more
doaj   +1 more source

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis [PDF]

, 2017
Background: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.
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core   +1 more source