Results 31 to 40 of about 9,125 (154)

Impact of data synthesis strategies for the classification of craniosynostosis

Frontiers in Medical Technology, 2023
IntroductionPhotogrammetric surface scans provide a radiation-free option to assess and classify craniosynostosis. Due to the low prevalence of craniosynostosis and high patient restrictions, clinical data are rare.
Matthias Schaufelberger, Reinald Peter Kühle, Andreas Wachter, Frederic Weichel, Niclas Hagen, Friedemann Ringwald, Urs Eisenmann, Jürgen Hoffmann, Michael Engel, Christian Freudlsperger, Werner Nahm   +10 more
doaj   +1 more source

Pharmacological exposures may precipitate craniosynostosis through targeted stem cell depletion

Stem Cell Research, 2019
The Centers for Disease Control and Prevention, National Birth Defects Study suggests that environmental exposures including maternal thyroid diseases, maternal nicotine use, and use of selective serotonin reuptake inhibitors (SSRIs) may exacerbate ...
Emily Durham, R. Nicole Howie, Nicholas Larson, Amanda LaRue, James Cray   +4 more
doaj   +1 more source

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis

Case Reports in Genetics, 2022
Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development.
Jonas Gustafson, Maria Bjork, Conny M. A. van Ravenswaaij-Arts, Michael L. Cunningham   +3 more
doaj   +1 more source

Shprintzen-goldberg craniosynostosis: craniofacial and oral characteristics, diagnosis, and clinical management of a very rare syndrome

RGO: Revista Gaúcha de Odontologia, 2022
Shprintzen-Goldberg craniosynostosis syndrome, characterized by craniosynostosis and marfanoid habitus, is a very rare entity described in 75 individuals worldwide.
Danielle Monsores VIEIRA, Florense Gabriela SILVA, Michele Baffi DINIZ, Maria Cristina Duarte FERREIRA, Maria Teresa Botti Rodrigues dos SANTOS, Renata Oliveira GUARÉ   +5 more
doaj   +1 more source

Viral delivery of tissue nonspecific alkaline phosphatase diminishes craniosynostosis in one of two FGFR2C342Y/+ mouse models of Crouzon syndrome.

PLoS ONE, 2020
Craniosynostosis is the premature fusion of cranial bones. The goal of this study was to determine if delivery of recombinant tissue nonspecific alkaline phosphatase (TNAP) could prevent or diminish the severity of craniosynostosis in a C57BL/6 ...
Hwa Kyung Nam, Iva Vesela, Sara Dean Schutte, Nan E Hatch   +3 more
doaj   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Understanding the influence of transfusion and blood loss on tranexamic acid concentration in scoliosis surgery with blood loss

British Journal of Clinical Pharmacology, EarlyView.
Aims Tranexamic acid (TXA) stabilizes clot formation by inhibiting fibrin degradation and improves postoperative outcomes. However, rare adverse events (e.g., thrombosis, seizures) warrant dose–risk evaluation. This study examines how perioperative blood loss and transfusion practices affect TXA concentrations during paediatric scoliosis surgery ...
Paula Alexandra Sá, Luisa Barreiros, Marcela A. Segundo, Eugénia Cruz, Sibylle Langenecker   +4 more
wiley   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Craniosynostosis of coronal suture in Twist1+/- mice occurs through endochondral ossification recapitulating the physiological closure of posterior frontal suture

Frontiers in Physiology, 2011
Craniosynostosis, the premature closure of cranial suture, is a pathologic condition that affects 1/2000 live births. Saethre-Chotzen syndrome is a genetic condition characterized by craniosynostosis.
Bjorn eBehr, Michael T Longaker, Natalina eQuarto, Natalina eQuarto   +3 more
doaj   +1 more source

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source