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https://www.readbyqxmd.com/read/29149498/association-between-a-single-nucleotide-polymorphism-in-the-grem1-gene-and-nonsyndromic-orofacial-cleft-in-the-chinese-population
#1
Xiaotong Wang, Hongquan Song, Xiaohui Jiao, Yanru Hao, Wei Zhang, Yuwei Gao, Yong Li, Na Mi, Jiaqun Yan
BACKGROUND: Nonsyndromic orofacial cleft (NSOC) is a common craniofacial deformity among newborns. The GREM1 gene is correlated with orofacial development. The aim of our study was to investigate the association between a single-nucleotide polymorphism in the GREM1 gene and this malformation in the Chinese population. METHODS: The SNaPshot mini sequencing technique was used to genotype the locus rs1258763 of the GREM1 gene in 331 patients with NSOC and 271 individuals in a control group...
November 17, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29146755/ocular-findings-in-loeys-dietz-syndrome
#2
Catharina Busch, Robert Voitl, Barbara Goergen, Tomasz Zemojtel, Petra Gehle, Daniel J Salchow
BACKGROUND: Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue disorder, is characterised by systemic manifestations including arterial aneurysm and craniofacial dysmorphologies. Although ocular involvement in LDS has been reported, detailed information on those manifestations is lacking. METHODS: Retrospective chart review of patients with diagnosed LDS and comparison with age-matched control patients. RESULTS: Mean age was 37...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29143524/injectable-shear-thinning-caso4-fgf-18-incorporated-chitin-plga-hydrogels-enhances-bone-regeneration-in-mice-cranial-bone-defect-model
#3
Sivashanmugam Amirthalingam, Pornkawee Charoenlarp, Sankar Deepthi, ArunKumar Rajendran, Shantikumar V Nair, Sachiko Iseki, Rangasamy Jayakumar
For craniofacial bone regeneration, shear thinning injectable hydrogels are favoured over conventional scaffolds due to their improved defect margin adaptability, easier handling and ability to be injected manually into deeper tissues. The most accepted method, after autografting, is the use of recombinant human BMP-2; however, complications such as inter-individual variations, edema, and poor cost-efficiency in supraphysiological doses have been reported. The endogenous synthesis of BMP-2 is desirable, and a molecule which induces this is FGF-18 since it can up-regulate the BMP-2 expression and positively modulate other osteogenic genes...
November 16, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/29142765/duplication-of-19p13-3-in-11-year-old-male-patient-with-dysmorphic-features-and-intellectual-disability-a-review
#4
Irina Novikova, Paushpala Sen, Ann Manzardo, Merlin G Butler
We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142654/correlation-between-nasoalveolar-molding-and-surgical-aesthetic-functional-and-socioeconomic-outcomes-following-primary-repair-surgery-a-systematic-review
#5
REVIEW
Sophie Maillard, Jean-Marc Retrouvey, Mairaj K Ahmed, Peter J Taub
Objectives: The authors performed a systematic review to evaluate the potential beneficial effects of the nasoalveolar molding appliance on nonsyndromic unilateral clefts of the lip and/or palate prior to primary lip repair. Material and Methods: A literature search was performed using three electronic databases (PubMed, Embase, Web of Science) and three journals ("Cleft Palate-Craniofacial Journal", "Plastic and Reconstructive Surgery Journal" and "American Journal of Orthodontics and Dentofacial Orthopaedic") from January 1980 to April 2017...
July 2017: Journal of Oral & Maxillofacial Research
https://www.readbyqxmd.com/read/29142173/effect-of-dibutyltin-on-placental-and-fetal-toxicity-in-rat
#6
Satoshi Furukawa, Naho Tsuji, Yoshiyuki Kobayashi, Yoshikazu Yamagishi, Seigo Hayashi, Masayoshi Abe, Yusuke Kuroda, Masayuki Kimura, Chisato Hayakawa, Akihiko Sugiyama
In order to elucidate the effect of chorioallantoic and yolk sac placenta on the embryonic/fetal toxicity in dibutyltin dichloride (DBTCl)-exposed rats, we examined the histopathological changes and the tissue distribution of dibutyltin in the placentas and embryos. DBTCl was orally administered to the groups at doses of 0 mg/kg during gestation days (GD)s 7-9 (control group) and 20 mg/kg during GDs 7-9 (GD7-9 treated group), and GDs 10-12 (GD10-12 treated group). The total fetal mortality was increased, and malformations characterized by craniofacial dysmorphism were detected in the GD7-9 treated group...
2017: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#7
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
November 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#8
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29140386/retrospective-study-of-survival-of-extraoral-endosseous-craniofacial-implants-in-head-and-neck-surgery-patients
#9
Brent J Woods, Arun Chandu
PURPOSE: To determine the survival rate of implants placed in different craniofacial locations and factors affecting survival. MATERIALS AND METHODS: This study retrospectively reviewed a consecutive series of patients treated at the Royal Melbourne Hospital who received craniofacial implants for an array of benign and malignant conditions. Implant survival per site and cumulative survival were determined. Surgical and implant variables were assessed using the Kaplan-Meier and Cox Proportional Hazards Models...
November 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/29140385/virtual-treatment-planning-for-implant-retained-nasal-prosthesis-a-clinical-report
#10
Muaiyed Mahmoud Buzayan, Norsiah Binti Yunu, Ha Kien Oon, Omar Tawfiq
Osseointegrated craniofacial implants have improved retention and patients' perceptions of implant-retained nasal prostheses; however, the determination of the available bone sites for implant placement post-rhinectomy is difficult. This case report describes the use of cone beam computed tomography scanning and computer-assisted virtual planning in conjunction with digital photographs for rehabilitation of a facial defect with an implant-retained silicon nasal prosthesis. Two implants were planned in the anatomical area with adequate bone volume to achieve favorable cosmetic outcomes and accessibility for hygiene maintenance...
November 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/29140246/an-eya1-notch-axis-specifies-bipotential-epibranchial-differentiation-in-mammalian-craniofacial-morphogenesis
#11
Haoran Zhang, Li Wang, Elaine Yee Man Wong, Sze Lan Tsang, Pin-Xian Xu, Urban Lendahl, Mai Har Sham
Craniofacial morphogenesis requires proper development of pharyngeal arches and epibranchial placodes. We show that the epibranchial placodes, in addition to giving rise to cranial sensory neurons, generate a novel lineage-related non-neuronal cell population for mouse pharyngeal arch development. Eya1 is essential for the development of epibranchial placodes and proximal pharyngeal arches. We identify an Eya1-Notch regulatory axis that specifies both the neuronal and non-neuronal commitment of the epibranchial placode, where Notch acts downstream of Eya1 and promotes the non-neuronal cell fate...
November 15, 2017: ELife
https://www.readbyqxmd.com/read/29138704/caudal-regression-and-encephalocele-rare-manifestations-of-expanded-goldenhar-complex
#12
Gabriella D'Angelo, Lucia Marseglia, Salvatore Aversa, Sara Manti, Caterina Cuppari, Mariaconcetta Cutrupi, Carmelo Salpietro, Eloisa Gitto
Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term "expanded Goldenhar complex" has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29137056/optic-nerve-injury-associated-blunt-cerebrovascular-injury-three-case-reports
#13
Dan-Dong Li, Liu-Xun Hu, Linyuan Sima, Shang-Yu Xu, Jian Lin, Nu Zhang, Bo Yin
RATIONALE: Blunt cerebrovascular injury (BCVI) is a rare complication that may occur after craniocervical trauma. The current literature is limited to extracranial carotid artery injuries; however, no reports have been published on blunt intracranial carotid injury (BICI), especially those associated with optic nerve injury. PATIENT CONCERNS: Here we report on 3 BICI cases that demonstrated optic nerve injuries after craniofacial injuries. All 3 patients showed post-trauma vision loss on the injured side...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29135736/use-of-acellular-dermal-matrix-in-craniosynostosis
#14
Anil Madaree
In craniofacial surgery, a wide spectrum of pathological conditions are usually treated. The aetiology of these could be congenital, traumatic, infective, post-tumor resection, postradiation, autoimmune, iatrogenic, or other miscellaneous conditions. The surgical approach for the procedures is usually via a coronal incision. In a large proportion of the patients, the frontal bone is removed to obtain intracranial access. The frontal bone is then replaced either in its original form or in a remodeled state. In congenital conditions the supraorbital bar and frontal bone is often also removed, remodeled, and replaced...
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29135729/strengthening-evidence-in-cleft-and-craniofacial-surgery
#15
Jordan W Swanson, Marco A Swanson
No abstract text is available yet for this article.
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29135727/comparative-cost-analysis-of-single-and-mutli-stage-temporal-deformity-correction-following-neurosurgical-procedures
#16
Anthony Asemota, Gabriel F Santiago, Susan Zhong, Chad R Gordon
PURPOSE: Temporal hollowing deformity (THD) is a visible concavity/convexity in the temporal fossa; a complication often seen following neurosurgical/craniofacial procedures. Although numerous techniques have been described, no study to date has shown the healthcare costs associated with temporal hollowing correction surgery. Thus, the purpose here is to compare and contrast the direct costs related to temporal cranioplasty using various methods including: liquid poly-methyl-methacrylate (PMMA) implants with screw fixation, prebent, modified titanium mesh implants, and customized cranial implants (CCIs) with dual-purpose design...
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#17
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29133259/loss-of-pit-2-results-in-abnormal-bone-development-and-decreased-bone-mineral-density-and-length-in-mice
#18
Shunsuke Yamada, Mary C Wallingford, Suhaib Borgeia, Timothy C Cox, Cecilia M Giachelli
Normal bone mineralization requires phosphate oversaturation in bone matrix vesicles, as well as normal regulation of phosphate metabolism via the interplay among bone, intestine, and kidney. In turn, derangement of phosphate metabolism greatly affects bone function and structure. The type III sodium-dependent phosphate transporters, PiT-1 and PiT-2, are believed to be important in tissue phosphate metabolism and physiological bone formation, but their requirement and molecular roles in bone remain poorly investigated...
November 10, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29132383/an-unusually-large-osteochondroma-of-the-mandibular-angle-a-case-report
#19
Ryosuke Abe, Ikuya Miyamoto, Hirotaka Sato, Daishi Saitou, Genki Yamaya, Hiroyuki Yamada
BACKGROUND: Osteochondroma is a benign bone tumor that can occur in both the mesenchymal and craniofacial bones. However, craniofacial osteochondromas are extremely rare, because the mandible develops by intramembranous ossification rather than by endochondral ossification. CASE PRESENTATION: The most common site of craniofacial osteochondroma is the mandibular condyle, followed by the coronoid process. In the present study, we have described the case of a 64-year-old Japanese man with an unusually large osteochondroma located on the internal angle of the mandibular body...
November 13, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29130970/physiological-signatures-of-dual-embryonic-origins-in-mouse-skull-vault
#20
Bo Hu, Taofen Wu, Yongxu Zhao, Guangtao Xu, Ruilin Shen, Guiqian Chen
BACKGROUND/AIMS: The mammalian skull vault is a highly regulated structure and consists of several membrane bones of different tissue origins (e.g. neural crest derived frontal bone and mesoderm derived parietal bone). Although membrane bones form through intramembranous ossification, neural crest derived frontal bone has superior osteoblast activity and bone regeneration ability, triggering a novel conception for craniofacial reconstruction and bone regeneration called endogenous calvarial regeneration...
November 1, 2017: Cellular Physiology and Biochemistry
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