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Craniofacial growth

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https://www.readbyqxmd.com/read/28926972/juvenile-moyamoya-and-craniosynostosis-in-a-child-with-deletion-1p32p31-expanding-the-clinical-spectrum-of-1p32p31-deletion-syndrome-and-a-review-of-the-literature
#1
Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni
Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735)...
September 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28898320/-peroxisomal-disorder-rhizomelyc-chondrodysplasia-punctata-type-1-case-report
#2
Cesar Leonardo González-Ortiz, Sandra Bibiana Jaimes Leguizamón, Gustavo Adolfo Contreras-García
INTRODUCTION: Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) belongs to the first group, caused by autosomal recessive mutations on PEX7 gene, encoding for PTS2 receptor. The aims of this report are to describe a genetic disease of low prevalence, explaining its main characteristics and the importance of the diagnostic approach and genetic counseling. CASE REPORT: 13-month-old male infant with no medical history, family or consanguinity, demonstrate at birth upper limbs shortening...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28893947/small-molecule-wnt-agonists-correct-cleft-palates-in-pax9-mutant-mice-in-utero
#3
Shihai Jia, Jing Zhou, Christopher Fanelli, Yinshen Wee, John Bonds, Pascal Schneider, Gabriele Mues, Rena N D'Souza
Clefts of the palate and/or lip are the most common among human craniofacial malformations and involve multiple genetic and environmental factors. Defects can only be corrected surgically and require complex life-long treatments. Our studies utilized the well-characterized Pax9(-/-) mouse model with a consistent cleft palate phenotype to test small-molecule Wnt agonist therapies. We first show that the absence of Pax9 alters the expression of Wnt pathway genes including Dkk1 and Dkk2, proven antagonists of Wnt signaling...
September 11, 2017: Development
https://www.readbyqxmd.com/read/28892929/connective-tissue-growth-factor-transgenic-mouse-develops-cardiac-hypertrophy-lean-body-mass-and-alopecia
#4
Edem Nuglozeh
INTRODUCTION: Connective Tissue Growth Factor (CTGF/CCN2) is one of the six members of cysteine-rich, heparin-binding proteins, secreted as modular protein and recognised to play a major function in cell processes such as adhesion, migration, proliferation and differentiation as well as chondrogenesis, skeletogenesis, angiogenesis and wound healing. The capacity of CTGF to interact with different growth factors lends an important role during early and late development, especially in the anterior region of the embryo...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28886771/biomaterials-for-craniofacial-bone-regeneration
#5
REVIEW
Greeshma Thrivikraman, Avathamsa Athirasala, Chelsea Twohig, Sunil Kumar Boda, Luiz E Bertassoni
Functional reconstruction of craniofacial defects is a major clinical challenge in craniofacial sciences. The advent of biomaterials is a potential alternative to standard autologous/allogenic grafting procedures to achieve clinically successful bone regeneration. This article discusses various classes of biomaterials currently used in craniofacial reconstruction. Also reviewed are clinical applications of biomaterials as delivery agents for sustained release of stem cells, genes, and growth factors. Recent promising advancements in 3D printing and bioprinting techniques that seem to be promising for future clinical treatments for craniofacial reconstruction are covered...
October 2017: Dental Clinics of North America
https://www.readbyqxmd.com/read/28882369/3d-printed-tcp-based-scaffold-incorporating-vegf-loaded-plga-microspheres-for-craniofacial-tissue-engineering
#6
F Fahimipour, M Rasoulianboroujeni, E Dashtimoghadam, K Khoshroo, M Tahriri, F Bastami, D Lobner, L Tayebi
OBJECTIVE: Vascularization is a critical process during bone regeneration/repair and the lack of tissue vascularization is recognized as a major challenge in applying bone tissue engineering methods for cranial and maxillofacial surgeries. The aim of our study is to fabricate a vascular endothelial growth factor (VEGF)-loaded gelatin/alginate/β-TCP composite scaffold by 3D printing method using a computer-assisted design (CAD) model. METHODS: The paste, composed of (VEGF-loaded PLGA)-containing gelatin/alginate/β-TCP in water, was loaded into standard Nordson cartridges and promptly employed for printing the scaffolds...
September 4, 2017: Dental Materials: Official Publication of the Academy of Dental Materials
https://www.readbyqxmd.com/read/28874636/growth-and-development-of-dentofacial-complex-influenced-by-genetic-and-environmental-factors-using-monozygotic-twins
#7
K K Manjusha, K Jyothindrakumar, A Nishad, K Madhav Manoj
AIM: The purpose of this study was to determine the possible effects of genetic and environmental factors on dentofacial complex using monozygotic twins. MATERIALS AND METHODS: The study sample was made of 21 pairs of monozygotic twins (14 female pairs and seven male pairs) between 10 and 25 years. Pretreatment lateral cephalo-grams were used which were traced and digitized, and various landmarks to determine the anteroposterior and vertical proportions were marked...
September 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28872989/orthodontic-treatment-in-conjunction-with-twin-bock-treatment-and-growth-hormone-therapy-in-silver-russell-syndrome
#8
Su-Jin Ko, Ji Young Seo, Yong-Dae Kwon, Kyounga Cheon, Jae Hyun Park
Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including micrognathia. While growth hormone (GH) therapy in children with SRS significantly improves somatic growth, functional orthopedic treatment can also be effective in adolescents with mandibular deficiency. We report the effects of Phase 1 functional orthopedic treatment of a twin-block appliance in conjunction with GH administration in a 9-year-old boy with GH deficiency and SRS, and the result of the subsequent Phase 2 orthodontic treatment...
2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28863112/disruption-of-hedgehog-signaling-by-vismodegib-leads-to-cleft-palate-and-delayed-osteogenesis-in-experimental-design
#9
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...
September 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28857986/craniofacial-and-dental-features-in-six-children-with-cherubism
#10
Patricia Stoor, Anni Suomalainen, Maarit Kemola, Sirpa Arte
Cherubism is an autosomal-dominant benign bone disorder, characterized by fibro-osseous lesions in the mandible and maxilla commonly caused by mutations in the SH3-binding protein 2-gene. The purpose of the authors' study was to analyze craniofacial and dental features of children diagnosed with cherubism, describe their treatment, and assess their dental age compared with norms for Finnish children. Six children were diagnosed, followed up and treated due to dental and skeletal disorders caused by cherubsim...
August 28, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28856179/gene-expression-profile-data-for-mouse-facial-development
#11
Sonia M Leach, Weiguo Feng, Trevor Williams
This article contains data related to the research articles "Spatial and Temporal Analysis of Gene Expression during Growth and Fusion of the Mouse Facial Prominences" (Feng et al., 2009) [1] and "Systems Biology of facial development: contributions of ectoderm and mesenchyme" (Hooper et al., 2017 In press) [2]. Embryonic mammalian craniofacial development is a complex process involving the growth, morphogenesis, and fusion of distinct facial prominences into a functional whole. Aberrant gene regulation during this process can lead to severe craniofacial birth defects, including orofacial clefting...
August 2017: Data in Brief
https://www.readbyqxmd.com/read/28855872/a-novel-method-to-detect-3d-mandibular-changes-related-to-soft-diet-feeding
#12
Kana Kono, Chihiro Tanikawa, Takeshi Yanagita, Hiroshi Kamioka, Takashi Yamashiro
Craniofacial morphology varies among individuals, which is regulated by the interaction between genes and the environment. Soft-diet feeding is a widely-used experimental model for studying the association between the skeletal morphology and muscle-related loading on the bone. Traditionally, these studies have been based on linear and angular measurements provided on two-dimensional (2D) radiographs in the lateral view. However, 2D observation is based on simplification of the anatomical structures and cannot detect three-dimensional (3D) changes in detail...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28851993/differential-changes-in-the-adenoids-and-tonsils-in-japanese-children-and-teenagers-a-cross-sectional-study
#13
Asuka Manabe, Takayoshi Ishida, Hyung Sik Yoon, Shin-Sheng Yang, Eiichiro Kanda, Takashi Ono
When adenoids (Ad) and tonsils (Tn) become hypertrophied, craniofacial and general body growth is affected. However, there are no objective explicit criteria for evaluating the size of the Ad and Tn, and their respective growth patterns remain unclear. This study determined the average proportions of the Ad and Tn sizes to the upper airway area at various developmental stages in Japanese individuals. Lateral cephalometric radiographs were obtained from 300 Japanese children and teenagers (150 boys and 150 girls, aged 6-20 years), and the respective proportions of Ad to the nasopharynx (Ad/Np) and Tn to the oropharynx (Tn/Op) in the upper airway were determined...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28841621/analysis-of-craniofacial-remodeling-in-the-aging-midface-using-reconstructed-three-dimensional-models-in-paired-individuals
#14
Mihiran Karunanayake, Frederick To, Johnny I Efanov, Gaby Doumit
BACKGROUND: Aging leads to a panoply of changes of facial morphology. The present study was conducted to analyze modifications of the facial skeleton with aging, using high-resolution imaging and comparing the same individuals at two time points. METHODS: The electronic medical record system was reviewed since its inception in 2001 for patients for whom two computed tomographic scans of the midface were obtained at least 9 years apart. The computed tomographic scans were converted into three-dimensional craniofacial models for each patient, using the initial and the follow-up computed tomographic scan data...
September 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28826296/recent-progresses-in-plastic-surgery-using-adipose-derived-stem-cells-biomaterials-and-growth-factors
#15
Farshad Zarei, Babak Negahdari
Plastic and reconstructive surgery is a distinct specialty, which entails craniofacial and hand surgery; trauma, oncologic and congenital reconstruction; burn care, and aesthetic surgery. However, advances in nanotechnology have significantly affected wound management, skin care, implant and prosthetic design, tissue engineering, and drug delivery systems. Presently, plastic surgeons are applying the efficacy of stem cells (ADSCs), biomaterials and growth factors in different facets of plastic surgery. In this review, we will elucidate the applications of stem cells, biomaterials and growth factors in plastic surgeries...
August 21, 2017: Journal of Microencapsulation
https://www.readbyqxmd.com/read/28818510/breathing-mode-influence-on-craniofacial-development-and-head-posture
#16
Annel Chambi-Rocha, Maria Eugenia Cabrera-Domínguez, Antonia Domínguez-Reyes
OBJECTIVE: The incidence of abnormal breathing and its consequences on craniofacial development is increasing, and is not limited to children with adenoid faces. The objective of this study was to evaluate the cephalometric differences in craniofacial structures and head posture between nasal breathing (NB) and oral breathing (OB) children and teenagers with a normal facial growth pattern. METHOD: Ninety-eight 7-16 year-old patients with a normal facial growth pattern were clinically and radiographically evaluated...
August 14, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28817360/closing-the-gap-mouse-models-to-study-adhesion-in-secondary-palatogenesis
#17
K J Lough, K M Byrd, D C Spitzer, S E Williams
Secondary palatogenesis occurs when the bilateral palatal shelves (PS), arising from maxillary prominences, fuse at the midline, forming the hard and soft palate. This embryonic phenomenon involves a complex array of morphogenetic events that require coordinated proliferation, apoptosis, migration, and adhesion in the PS epithelia and underlying mesenchyme. When the delicate process of craniofacial morphogenesis is disrupted, the result is orofacial clefting, including cleft lip and cleft palate (CL/P). Through human genetic and animal studies, there are now hundreds of known genetic alternations associated with orofacial clefts; so, it is not surprising that CL/P is among the most common of all birth defects...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28802359/transmission-analysis-of-tgfb1-gene-polymorphisms-in-non-syndromic-cleft-lip-with-or-without-cleft-palate
#18
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
#19
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
#20
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
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