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Craniofacial growth

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https://www.readbyqxmd.com/read/28802359/transmission-analysis-of-tgfb1-gene-polymorphisms-in-non-syndromic-cleft-lip-with-or-without-cleft-palate
#1
Ginila T Raju, Bhaskar V K S Lakkakula, Jyotsna Murthy, Munirajan Arasambattu Kannan, Solomon F D Paul
OBJECTIVES: Transforming growth factor beta1 (TGF-β1) plays a significant role in craniofacial development. Previous linkage studies reported that the TGF-β1-locus at 19q13.1 harbour predisposing genes for non-syndromic oral clefts. In the present study case parents triads were evaluated to find the transmission effects of genetic variants in TGF- β1 towards non-syndromic cleft lip or palate (NSCL/P). METHODS: Using allelic discrimination method148 families (case-parent triads) were assessed for single nucleotide polymorphisms (SNPs) in TGF-β1 gene...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28794913/wolf-hirschhorn-syndrome-clinical-and-genetic-data-from-a-first-case-diagnosed-in-central-africa
#2
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28780390/a-12-year-experience-with-tracheostomy-for-neonates-and-infants-in-northern-taiwan-indications-hospital-courses-and-long-term-outcomes
#3
Chia-Huei Chen, Jui-Hsing Chang, Chyong-Hsin Hsu, Nan-Chang Chiu, Chun-Chin Peng, Wai-Tim Jim, Hung-Yang Chang, Kuo-Sheng Lee
BACKGROUND: Tracheostomy is a valuable procedure in infants and neonates with chronic respiratory failure or severe airway obstruction. The aim of this study is to identify the indication, hospital course, and long-term outcome in a cohort of infants who required tracheostomy in a neonatal and pediatric tertiary care center in northern Taiwan. METHODS: Medical records of infants, who underwent tracheostomy between January 2002 and December 2013, were retrospectively reviewed...
July 24, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28774693/characterizing-the-skull-base-in-craniofacial-microsomia-using-principal-component-analysis
#4
S C Schaal, C Ruff, B I Pluijmers, E Pauws, C W N Looman, M J Koudstaal, D J Dunaway
The aim of this study was to compare the anatomical differences in the skull base between the affected and non-affected side in patients with craniofacial microsomia (CFM), and to compare the affected and non-affected sides with measurements from a normal population. Three-dimensional computed tomography scans of 13 patients with unilateral CFM and 19 normal patients (age range 7-12 years) were marked manually with reliable homologous landmarks. Principal component analysis (PCA), as part of a point distribution model (PDM), was used to analyse the variability within the normal and preoperative CFM patient groups...
July 31, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28768473/a-de-novo-missense-mutation-of-fgfr2-causes-facial-dysplasia-syndrome-in-holstein-cattle
#5
Jørgen S Agerholm, Fintan J McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. RESULTS: Seven malformed calves were submitted examination...
August 2, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28762259/congenital-muscle-dystrophy-and-diet-consistency-affect-mouse-skull-shape-differently
#6
Alexander Spassov, Viviana Toro-Ibacache, Mirjam Krautwald, Heinrich Brinkmeier, Kornelius Kupczik
The bones of the mammalian skull respond plastically to changes in masticatory function. However, the extent to which muscle function affects the growth and development of the skull, whose regions have different maturity patterns, remains unclear. Using muscle dissection and 3D landmark-based geometric morphometrics we investigated the effect of changes in muscle function established either before or after weaning, on skull shape and muscle mass in adult mice. We compared temporalis and masseter mass and skull shape in mice with a congenital muscle dystrophy (mdx) and wild type (wt) mice fed on either a hard or a soft diet...
July 31, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28762153/a-retrospective-cephalometric-study-on-upper-airway-spaces-in-different-facial-types
#7
Roselaine Sprenger, Luciano Augusto Cano Martins, Júlio Cesar Bento Dos Santos, Carolina Carmo de Menezes, Giovana Cherubini Venezian, Viviane Veroni Degan
BACKGROUND: Craniofacial growth pattern has been correlated with variations in size of the upper airway spaces. The objective of this study was to evaluate the nasopharyngeal, oropharyngeal, and hypopharyngeal airway spaces variations according to the craniofacial growth pattern, by comparing brachyfacial, mesofacial, and dolichofacial in Angle Class I individuals. METHODS: To measure the spaces, 45 lateral teleradiographs were used and divided into 3 groups per the craniofacial growth pattern, determined by the Tweed cephalometry angular measurements: FMA and Y-axis...
December 2017: Progress in Orthodontics
https://www.readbyqxmd.com/read/28757702/clinical-characteristics-of-crouzon-syndrome
#8
L Balyen, L S Deniz Balyen, S Pasa
Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure...
May 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/28749845/postnatal-development-of-the-spheno-occipital-synchondrosis-a-histological-analysis
#9
Jiewen Dai, Yuheng Lin, Ouyang Ningjuan, Jun Shi, Dedong Yu, Guofang Shen
The spheno-occipital synchondrosis (SOS) in cranial base is an important growth center for the craniofacial skeleton, and also is a guide rail for development of the maxilla, midface, and mandible. Previous studies showed that SOS may be a treatment target for youngsters with midfacial hypoplasia and small cranial vault secondary to craniosynostosis. However, most of studies about the SOS are based on imaging data. In this study, we try to explore the characteristics of postnatal development of the mouse SOS based on histological analysis...
July 26, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28747097/tissue-engineering-strategies-to-improve-osteogenesis-in-the-juvenile-swine-alveolar-cleft-model
#10
Montserrat Caballero, Donna C Jones, Zhengyuan Shan, Sajjad Soleimani, John A van Aalst
Alveolar <b>(gumline)</b> clefts are the most common congenital bone defect in humans, affecting 1 in 700 live births. Treatment <b>to repair these bony</b> defects relies on autologous, <b>cancellous</b> bone transfer from the iliac crest. This harvest requires a second surgical site <b>with increased </b>surgical time associated with potential complications, <b>while providing only limited cancellous bone</b>. Improvements in treatment protocols that avoid these limitations would be beneficial to patients with clefts and other craniofacial bone defects...
July 26, 2017: Tissue Engineering. Part C, Methods
https://www.readbyqxmd.com/read/28740400/multidisciplinary-care-of-craniosynostosis
#11
REVIEW
Edward P Buchanan, Yunfeng Xue, Amy S Xue, Asaf Olshinka, Sandi Lam
The management of craniosynostosis, especially in the setting of craniofacial syndromes, is ideally done in a multidisciplinary clinic with a team focused toward comprehensive care. Craniosynostosis is a congenital disorder of the cranium, caused by the premature fusion of one or more cranial sutures. This fusion results in abnormal cranial growth due to the inability of the involved sutures to accommodate the growing brain. Skull growth occurs only at the patent sutures, resulting in an abnormal head shape...
2017: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/28737426/posterior-cranial-base-natural-growth-and-development-a-systematic-review
#12
Kris Currie, Dena Sawchuk, Humam Saltaji, Heesoo Oh, Carlos Flores-Mir, Manuel Lagravere
OBJECTIVE: To provide a synthesis of the published studies evaluating the natural growth and development of the human posterior cranial base (S-Ba). MATERIALS AND METHODS: The search was performed on MEDLINE, Embase, PubMed, and all EBM Reviews electronic databases. In addition, reference lists of the included studies were hand-searched. Articles were included if they analyzed posterior cranial-base growth in humans specifically. Study selection, data extraction, and risk of bias assessment were completed in duplicate...
July 24, 2017: Angle Orthodontist
https://www.readbyqxmd.com/read/28734059/localized-reductions-in-resting-state-functional-connectivity-in-children-with-prenatal-alcohol-exposure
#13
Jia Fan, Paul A Taylor, Sandra W Jacobson, Christopher D Molteno, Suril Gohel, Bharat B Biswal, Joseph L Jacobson, Ernesta M Meintjes
Fetal alcohol spectrum disorders (FASD) are characterized by impairment in cognitive function that may or may not be accompanied by craniofacial anomalies, microcephaly, and/or growth retardation. Resting-state functional MRI (rs-fMRI), which examines the low-frequency component of the blood oxygen level dependent (BOLD) signal in the absence of an explicit task, provides an efficient and powerful mechanism for studying functional brain networks even in low-functioning and young subjects. Studies using independent component analysis (ICA) have identified a set of resting-state networks (RSNs) that have been linked to distinct domains of cognitive and perceptual function, which are believed to reflect the intrinsic functional architecture of the brain...
July 22, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28713738/three-dimensional-planning-and-reconstruction-of-the-mandible-in-children-with-craniofacial-microsomia-type-iii-using-costochondral-grafts
#14
Omri Emodi, Yair Israel, Michal Even Almos, Dror Aizenbud, John A Van Aalst, Adi Rachmiel
BACKGROUND: In craniofacial microsomia (CFM) Type III patients, autogenous costochondral grafts (CCG) are conventionally used for the reconstruction of the ramus and condyle. The aim of this study was to describe the use of CCG in children with CFM in terms of outcomes, growth patterns, and complications. MATERIALS AND METHODS: This is a retrospective study of nine, aged 4-12 years, patients with CFM Type III, who underwent reconstruction of the mandibular ramus condyle unit by CCG...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28708640/is-cleft-severity-correlated-with-intrinsic-growth-pattern-observation-from-unoperated-adult-patients-with-submucous-cleft-palate
#15
Congcong Cao, Xue Xu, Bing Shi, Qian Zheng, Jingtao Li
OBJECTIVE: This study aimed to evaluate the craniofacial morphology of unoperated adult submucous cleft palate (SMCP) patients and to explore the possible correlation between the intrinsic growth insufficiency of the maxillofacial complex and the severity of the cleft. MATERIALS AND METHODS: A total of 20 unoperated SMCP patients, 20 unoperated overt cleft palate (OCP) patients, and 32 normal controls, ages between 18 and 30, were included for cephalometric analysis...
July 13, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28699175/long-term-health-outcomes-of-adults-with-mccune-albright-syndrome
#16
S C Wong, M Zacharin
CONTEXT: McCune Albright Syndrome (MAS) is associated with numerous health problems. Comprehensive long term health problems of adults with MAS are less well defined in the literature. OBJECTIVE: Our objective is to report comprehensive health outcomes of adults with MAS (> 18 years). DESIGN: Retrospective case note review of 16 adults with MAS managed by one clinician. Results expressed as median (range) RESULTS: The study included 16 adults (7 males) with MAS...
July 12, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28697314/grainyhead-like-transcription-factors-in-craniofacial-development
#17
M R Carpinelli, M E de Vries, S M Jane, S Dworkin
Craniofacial development in vertebrates involves the coordinated growth, migration, and fusion of several facial prominences during embryogenesis, processes governed by strict genetic and molecular controls. A failure in any of the precise spatiotemporal sequences of events leading to prominence fusion often leads to anomalous facial, skull, and jaw formation-conditions termed craniofacial defects (CFDs). Affecting approximately 0.1% to 0.3% of live births, CFDs are a highly heterogeneous class of developmental anomalies, which are often underpinned by genetic mutations...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28692520/disruption-of-hedgehog-signaling-by-vismodegib-leads-to-cleft-palate-and-delayed-osteogenesis-in-mice
#18
Shixian Zhang, Chengyong Wang, Changfu Xie, Yongzhen Lai, Di Wu, Guowu Gan, Weihui Chen
The function of hedgehog signaling has previously been shown to be crucial for craniofacial development. In this study, we treated C57/BL6J mice with the hedgehog pathway inhibitor vismodegib by oral gavage to establish a stable vismodegib-induced cleft palate model. At E10.5 and E12.5, mice in the experimental group were treated with 100 mg/kg of vismodegib, whereas mice in the control group were treated with solvent. The treated pregnant mice were sacrificed on E13.5, E14.5, E15.5, and E16.5. Palatal shelf growth was evaluated via histological and immunohistochemical analyses as well as palatal organ culture...
July 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28692499/would-be-prophylactic-administrations-of-low-concentration-of-alendronate-an-alternative-for-improving-the-craniofacial-bone-repair-a-preliminary-study-focused-in-the-period-of-cellular-differentiation-and-tissue-organization
#19
Isabella Göhringer, Carmem L Storrer Muller, Emanuelle Juliana Cunha, Giuliene Nunes De Souza Passoni, Juliana Souza Vieira, João Cesar Zielak, Rafaela Scariot, Tatiana Miranda Deliberador, Allan Fernando Giovanini
BACKGROUND: Alendronate (ALN) is a nitrogen-bisphosphonate that may induce an anabolic effect on craniofacial bone repair when administrated in low doses. Based on this premise, this study analyzed the influence of prophylactic low doses of ALN on bone healing in defects created in rabbit mandible. METHODS: A 5 × 2-mm diameter deep defect was created in the calvaria of 28 rabbits. Fourteen of these rabbits received previously 50 μg/kg of 1% sodium ALN for 4 weeks, while the other rabbits received only 0...
July 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28670447/short-term-hypoxic-preconditioning-promotes-prevascularization-in-3d-bioprinted-bone-constructs-with-stromal-vascular-fraction-derived-cells
#20
Mitchell A Kuss, Robert Harms, Shaohua Wu, Ying Wang, Jason B Untrauer, Mark A Carlson, Bin Duan
Reconstruction of complex, craniofacial bone defects often requires autogenous vascularized bone grafts, and still remains a challenge today. In order to address this issue, we isolated the stromal vascular fraction (SVF) from adipose tissues and maintained the phenotypes and the growth of endothelial lineage cells within SVF derived cells (SVFC) by incorporating an endothelial cell medium. We 3D bioprinted SVFC within our hydrogel bioinks and conditioned the constructs in either normoxia or hypoxia. We found that short-term hypoxic conditioning promoted vascularization-related gene expression, whereas long-term hypoxia impaired cell viability and vascularization...
June 5, 2017: RSC Advances
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