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Craniosynostosis

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https://www.readbyqxmd.com/read/28650561/craniosynostosis-in-patients-with-rasopathies-accumulating-clinical-evidence-for-expanding-the-phenotype
#1
Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto
RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28648641/glypican-based-drug-releasing-titania-implants-to-regulate-bmp2-bioactivity-as-a-potential-approach-for-craniosynostosis-therapy
#2
Manpreet Bariana, Prem Dwivedi, Sarbin Ranjitkar, John A Kaidonis, Dusan Losic, Peter J Anderson
Advances in molecular biology and nanomedicine based therapies hold promise to obviate the need of multiple surgical interventions (associated with current management) in craniosynostosis by preventing bone re-ossification. One such adjunctive therapy involves application of glypicans 1 and 3 (GPC1 and GPC3) that are BMP inhibitors implicated in downregulating the BMP2 activity in prematurely fusing sutures. Electrochemically anodized Titania nanotube (TNT) arrays have been recognized as a promising localized, long-term drug delivery platform for bone-related therapies...
June 23, 2017: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/28643932/gene-environment-interactions-in-craniosynostosis-a-brief-review
#3
REVIEW
E L Durham, R N Howie, J J Cray
It is suggested that craniosynostosis is caused by a heterogeneous set of effects including gene mutations, teratogenic exposure during critical periods of development and gene/environment interactions. Distinguishing between sufficient, additive and interactive effects is important to the study of gene/environment interactions and allows for segregation of environmental exposures effecting susceptible populations. Through the identification of sufficient and interactive effects, efforts in prevention of craniosynostosis may be successful...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643920/analysis-of-polycaprolactone-scaffolds-fabricated-via-precision-extrusion-deposition-for-control-of-craniofacial-tissue-mineralization
#4
C W Fedore, L Y L Tse, H K Nam, K L Barton, N E Hatch
OBJECTIVES: Recurrence of cranial bone fusion following surgical resection in craniosynostosis patients commonly requires additional surgical procedures. Surgical implantation of engineered 3D scaffolds that control tissue mineralization could be utilized to diminish recurrence of fusion. This study investigated the ability of composite scaffolds to control tissue mineralization when cultured in vitro. SETTING AND SAMPLE POPULATION: Precision-engineered scaffolds with calvarial cells were cultured in vitro at the Department of Orthodontics and Pediatric Dentistry, University of Michigan...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28641928/bmpr1a-is-a-major-type-1-bmp-receptor-for-bmp-smad-signaling-during-skull-development
#5
Haichun Pan, Honghao Zhang, Ponnu Abraham, Yoshihiro Komatsu, Karen Lyons, Vesa Kaartinen, Yuji Mishina
Craniosynostosis is caused by premature fusion of one or more sutures in an infant skull, resulting in abnormal facial features. The molecular and cellular mechanisms by which genetic mutations cause craniosynostosis are incompletely characterized, and many of the causative genes for diverse types of syndromic craniosynostosis have not yet been identified. We previously demonstrated that augmentation of BMP signaling mediated by a constitutively active BMP type IA receptor (ca-BmpR1A) in neural crest cells (ca1A hereafter) causes craniosynostosis and superimposition of heterozygous null mutation of Bmpr1a rescues premature suture fusion (ca1A;1aH hereafter)...
June 19, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#6
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28623672/craniosynostosis-recognition-clinical-characteristics-and-treatment
#7
REVIEW
Nina Kajdic, Peter Spazzapan, Tomaz Velnar
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. The main cause of craniosynostosis is premature closure of one or more cranial sutures. It usually occurs as an isolated condition, but may also be associated with other malformations as part of complex syndromes. When left untreated, craniosynostosis can cause serious complications, such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, anomalies affecting the eye, and psychological disturbances...
June 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28617738/the-whitaker-classification-of-craniosynostosis-outcomes-an-assessment-of-inter-rater-reliability
#8
Ari M Wes, Sanjay Naran, James Sun, Daniel Mazzaferro, Wen Xu, Phuong Nguyen, Linton A Whitaker, Scott P Bartlett, Jesse A Taylor
PURPOSE: The Whitaker classification (WC) is a simple and widely used system for describing aesthetic outcomes after craniosynostosis surgery. The purpose of this study is to evaluate its inter-rater reliability for patients who have undergone frontal-orbital surgery. METHODS: A retrospective review of patients with craniosynostosis who underwent surgical intervention at a tertiary referral center was conducted. Inclusion criteria were: single-suture craniosynostosis, surgical intervention before age two years, and photographs taken prior to revisions between 5 and 20 years of age...
June 14, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28611549/mutation-c-943g-t-p-ala315ser-in-fgfr2-causing-a-mild-phenotype-of-crouzon-craniofacial-dysostosis-in-a-three-generation-family
#9
Luitgard M Graul-Neumann, Eva Klopocki, Nicolai Adolphs, Martin A Mensah, Wolfram Kress
Crouzon syndrome craniofacial dysostosis type I [OMIM 123500] is caused by mutations in the gene encoding fibroblast growth factor receptor-2 (FGFR2). An overlapping phenotype with Muenke and Crouzon syndrome with acanthosis nigricans (FGFR3 mutations) is known. The clinical diagnosis can be corroborated by molecular studies in about 80-90% of the cases. No clear genotype/phenotype correlation has been identified yet. Here, we describe a second family with a mild phenotype in which the FGFR2 mutation c.943G>T leading to the amino acid substitution p...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28611422/bone-fusion-in-normal-and-pathological-development-is-constrained-by-the-network-architecture-of-the-human-skull
#10
Borja Esteve-Altava, Toni Vallès-Català, Roger Guimerà, Marta Sales-Pardo, Diego Rasskin-Gutman
Craniosynostosis, the premature fusion of cranial bones, affects the correct development of the skull producing morphological malformations in newborns. To assess the susceptibility of each craniofacial articulation to close prematurely, we used a network model of the skull to quantify the link reliability (an index based on stochastic block models and Bayesian inference) of each articulation. We show that, of the 93 human skull articulations at birth, the few articulations that are associated with non-syndromic craniosynostosis conditions have statistically significant lower reliability scores than the others...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28600064/pfeiffer-syndrome-with-fgfr2-c342r-mutation-presenting-extreme-proptosis-craniosynostosis-hearing-loss-ventriculomegaly-broad-great-toes-and-thumbs-maxillary-hypoplasia-and-laryngomalacia
#11
Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wayseen Wang
No abstract text is available yet for this article.
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28593893/trigonocephaly-our-experience-and-treatment-in-the-republic-of-macedonia
#12
Vladimir Mircevsk, Elizabeta Zogovska, Aleksandar Chaparoski, Mile Micunovic, Venko Filipce, Mirko Mishel Mirchevski, Milenko Kostov, Ljubica Мicunovic
INTRODUCTION: Prematurely fused metopic suture results in developmental anomaly named trigonocephaly. The treatment of trigonocephaly is a surgical reconstruction, starting from the simple suturectomy toward the complicated cranial vault reconstructions with aim to obtain enough endocranial space for normal development of the brain and aesthetic correction as well. THE AIM: The aim of our paper is to present our experience on this pathology in the Republic of Macedonia, stressing the trigonocephaly as one of the rare forms of craniosynostosis...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28590022/on-the-significance-of-craniosynostosis-in-a-case-of-kabuki-syndrome-with-a-concomitant-kmt2d-mutation-and-3-2%C3%A2-mbp-de-novo-10q22-3q23-1-deletion
#13
Alexandra Topa, Lena Samuelsson, Lovisa Lovmar, Göran Stenman, Lars Kölby
Craniosynostosis has rarely been described in patients with Kabuki syndrome. We report here a boy with facial asymmetry due to combined premature synostosis of the right coronal and sagittal sutures as well as several symptoms reminiscent of Kabuki syndrome (KS). Our case supports previous observations and suggests that craniosynostosis is a part of the KS phenotype. The uniqueness of our case is the sporadic co-occurrence of two genetic disorders, that is, a de novo frameshift variant in the KMT2D gene and a de novo 3...
June 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28583642/ultrasonography-for-the-diagnosis-of-craniosynostosis
#14
Maïa Proisy, Laurent Riffaud, Kamal Chouklati, Catherine Tréguier, Bertrand Bruneau
OBJECTIVES: The aim of this study was to report our experience with ultrasonography in our routine practice for the diagnosis of cranial deformity in infants. METHODS: We conducted a single-institution retrospective study of infants referred to our department because of skull deformity. We only included in this study infants having undergone both US and 3D-CT to ensure accurate comparisons. Each cranial suture was described as normal or closed (partial or complete closure)...
May 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28582306/delayed-presentation-of-isolated-sagittal-synostosis-with-raised-intracranial-pressure-and-secondary-chiari-malformation-with-cervical-syringomyelia
#15
Stratos S Sofos, Ben Robertson, Christian Duncan, Ajay Sinha
Sagittal craniosynostosis (SC) is the most common type of premature suture fusion presenting in approximately 1 in every 5000 births with a 3:1 male:female ratio. The most common indication for surgery is the improvement of the cosmetic appearance of the skull, since a cranial deformation may have a significant psychosocial impact on affected patients. Relief from raised intracranial pressure is a further indication for surgery, although an increased intracranial pressure (ICP) can be demonstrated only in a minority of affected children at diagnosis...
June 2, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28582303/tranexamic-acid-reduces-blood-loss-in-craniosynostosis-surgery
#16
Nicole M Kurnik, Lacey R Pflibsen, Ruth E Bristol, Davinder J Singh
METHODS: The authors retrospectively reviewed 79 patients with craniosynostosis who underwent either bifrontal or biparietal-occipital calvarial vault remodeling before institution of tranexamic acid (TXA) administration (non-TXA group) and 35 patients after institution of TXA administration (TXA group). The patients were analyzed in 2 groups: all open calvarial vault remodeling patients (anterior and posterior) as a whole, and anterior vaults only as a subset analysis. Primary outcomes accessed were: total intraoperative blood transfused, postoperative blood transfused, and estimated blood loss (EBL)...
June 2, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28582302/effect-of-erythropoietin-on-transfusion-requirements-for-craniosynostosis-surgery-in-children
#17
Hattan A Aljaaly, Salah A Aldekhayel, Julian Diaz-Abele, Mihiran Karunanayka, Mirko S Gilardino
BACKGROUND: Pediatric craniosynostosis surgery is associated with significant blood loss often requiring allogenic blood transfusion (ABT). This study explores the clinical effectiveness of preoperative erythropoietin (EPO) administration in pediatric craniosynostosis surgery in reducing transfusion requirements. METHODS: A systematic review and meta-analysis of the literature was performed for studies published in English language between 1946 and 2015. Inclusion criteria included original studies in the pediatric population (0-8 years of age) involving preoperative use of EPO in craniofacial procedures with quantitative reporting of perioperative blood transfusion...
June 2, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28582301/reducing-postoperative-bleeding-after-craniosynostosis-repair-utilizing-a-low-dose-transexamic-acid-infusion-protocol
#18
Jennifer K Hansen, Anna M Lydick, Matthew M Wyatt, Brian T Andrews
BACKGROUND: Craniosynostosis surgery is associated with large volume blood loss and the need for blood transfusion. Recently, the use of tranexamic acid (TXA) has been demonstrated to be helpful in reducing perioperative blood loss in many pediatric procedures. This study used a low-dose pharmacokinetic TXA dosing protocol and assessed its ability to limit perioperative blood loss for craniosynostosis repairs. METHODS: A retrospective chart review was conducted of pediatric craniosynostosis surgeries performed at our institution between September 2011 and December 2014...
June 2, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28578511/cranial-ultrasound-is-a-reliable-first-step-imaging-in-children-with-suspected-craniosynostosis
#19
L Pogliani, G V Zuccotti, M Furlanetto, V Giudici, A Erbetta, L Chiapparini, L Valentini
PURPOSE: Skull radiography (SR) and Computed Tomography (CT) are still proposed as the first-line imaging choice for the diagnosis of craniosynostosis (CS) in children with abnormal head shape, but both techniques expose infants to ionizing radiation. Several studies shown that ultrasound may play an important role in the diagnosis of craniosynostosis. The aim of our study is to assess the diagnostic accuracy of cranial ultrasound scan (CUS) and confirm if it is a reliable first step imaging evaluation for the diagnosis of craniosynostosis in newborn...
June 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28574949/minor-suture-fusion-in-syndromic-craniosynostosis
#20
Christopher M Runyan, Wen Xu, Michael Alperovich, Jonathan P Massie, Gina Paek, Benjamin A Cohen, David A Staffenberg, Roberto L Flores, Jesse A Taylor
BACKGROUND: Infants with craniofacial dysostosis syndromes may present with midface abnormalities but without major (calvarial) suture synostosis and head shape anomalies. Delayed presentation of their calvarial phenotype is known as progressive postnatal craniosynostosis. Minor sutures/synchondroses are continuations of major sutures toward and within the skull base. We hypothesized that minor suture synostosis is present in infants with syndromic, progressive postnatal craniosynostosis, and is associated with major suture synostosis...
May 31, 2017: Plastic and Reconstructive Surgery
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