Results 51 to 60 of about 24,851 (250)

Apert syndrome: the Paris and Rotterdam philosophy [PDF]

, 2017
Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet.
Arnaud, E. (Eric), Bredero-Boelhouwer, H.H. (Hansje), Driessen, C. (Caroline), Joosten, K.F.M. (Koen), Mathijssen, I.M.J. (Irene), Nieuwenhoven, C.A. (Christianne) van, Veelen-Vincent, M.L.C. (Marie-Lise) van, Versnel, S.L. (Sarah), Wolvius, E.B. (Eppo)   +8 more
core   +2 more sources

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

General and oral aspects in Apert syndrome: report of a case [PDF]

, 2015
Background: The present paper describes the general and oral manifestations in a 32-year-old man previously diagnosed with Apert syndrome. Clinical examination revealed features of acrocephalosyndactyly.
Chimenos Küstner, Eduardo, Espías Gómez, Ángel F. (Ángel Fortunato), Herrero-Payo, Julio, Leonard, R.H., Sánchez Soler, Luis Alberto, Villarreal Becerra, Einer Niels   +5 more
core   +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

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

Using Peripheral Venous Pressure Waveforms to Predict Key Hemodynamic Parameters [PDF]

, 2019
Analysis of peripheral venous pressure (PVP) waveforms is a novel method of monitoring intravascular volume. Two cohorts were used to study the hemodynamics change of the body state and its influence on the PVP using (1) dehydration setting with infants ...
AlAlawi, Ali Zohair A
core   +2 more sources

Clues from Crouzon: Insights into the potential role of growth factors in the pathogenesis of myelinated retinal nerve fibers. [PDF]

, 2016
PurposeWe present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2.
Akil, Handan, Apinyawasisuk, Supanut, Garcia, Giancarlo A, Kim, Sarah, Sadun, Alfredo A, Tian, Jack J   +5 more
core   +3 more sources

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

FGF2 promotes Msx2 stimulated PC‐1 expression via Frs2/MAPK signaling [PDF]

, 2010
PC‐1 is an enzymatic generator of pyrophosphate and a critical regulator of tissue mineralization. We previously showed that fibroblast growth factor‐2 (FGF2) specifically induces PC‐1 expression in calvarial pre‐osteoblasts and that this occurs via a ...
Hatch, Nan E., Hudson, Mark, Kim, Sungsu, Li, Yan, Liu, Jin   +4 more
core   +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