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https://www.readbyqxmd.com/read/28716735/pupillary-measurements-and-anisocoria-in-chinese-preschoolers-3-4-years-of-age-screened-using-the-plusoptix-a12c
#1
Dan Huang, Xiaohan Zhang, Yue Wang, Hui Zhu, Hui Ding, Jing Bai, Ji Chen, Zhujun Fu, Zijin Wang, Xuejuan Chen, Hu Liu
PURPOSE: To evaluate the distribution of the pupil diameter and distance and the incidence of anisocoria in a screening setting for Chinese preschoolers 3-4 years of age. METHODS: This was a cross-sectional, population-based study conducted in children aged 3-4 years in Nanjing, China. Plusoptix photoscreening was conducted without cycloplegia. Additional assessments were conducted, including light reaction test, reevaluation for anisocoria (in dim and bright light), swinging-flashlight test, and cocaine test, if necessary...
July 14, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28715414/kinesin-1-promotes-chondrocyte-maintenance-during-skeletal-morphogenesis
#2
Adrian Santos-Ledo, Marina Garcia-Macia, Philip D Campbell, Marta Gronska, Florence L Marlow
During skeletal morphogenesis diverse mechanisms are used to support bone formation. This can be seen in the bones that require a cartilage template for their development. In mammals the cartilage template is removed, but in zebrafish the cartilage template persists and the bone mineralizes around the cartilage scaffold. Remodeling of unmineralized cartilage occurs via planar cell polarity (PCP) mediated cell rearrangements that contribute to lengthening of elements; however, the mechanisms that maintain the chondrocyte template that supports perichondral ossification remain unclear...
July 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28713738/three-dimensional-planning-and-reconstruction-of-the-mandible-in-children-with-craniofacial-microsomia-type-iii-using-costochondral-grafts
#3
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/28713498/identical-twins-with-pierre-robin-syndrome-unusual-encounter
#4
Nabil Shdaifat, Zaid Al-Zoubi, Hazem Khraisat, Rana Al-Omor, Khaled Matar
New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature, only a few have mentioned its occurrence in identical twins. This paper presents a rare incident of full-term twin babies born with the sequence of Pierre Robin syndrome, which consists of micrognathia, cleft palate, and glossoptosis. Although it is a rare coincidence, Pierre Robin syndrome still can occur in identical twin babies...
May 2017: Electronic Physician
https://www.readbyqxmd.com/read/28712884/the-supraorbital-region-revisited-an-anatomic-exploration-of-the-neuro-vascular-bundle-with-regard-to-frontal-migraine-headache
#5
Valeria Berchtold, Hannes Stofferin, Bernhard Moriggl, Erich Brenner, Reinhard Pauzenberger, Marko Konschake
BACKGROUND: Recent findings on the pathogenesis of frontal migraine headache support, besides a central vasogenic cause, an alternative peripheral mechanism involving compressed craniofacial nerves. This is further supported by the efficiency of botulinum toxin injections as a new treatment option in frontal migraine headache patients. METHODS: The supraorbital regions of 22 alcohol-glycerine-embalmed facial halves of both sexes were dissected. Both the supratrochlear and supraorbital nerves (STN and SON, respectively) were identified, and their relationship with the corrugator supercilii muscle (CSM) was investigated by dissection and ultrasound...
June 27, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28712851/irf6-rs2235375-single-nucleotide-polymorphism-is-associated-with-isolated-non-syndromic-cleft-palate-but-not-with-cleft-lip-with-or-without-palate-in-south-indian-population
#6
Venkatesh Babu Gurramkonda, Altaf Hussain Syed, Jyotsna Murthy, Bhaskar V K S Lakkakula
INTRODUCTION: Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. OBJECTIVE: We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate in a south Indian population. METHODS: 173 unrelated nonsyndromic cleft lip with or without Palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system...
June 26, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28708650/analysis-of-stress-trajectories-in-human-adult-cleft-skull
#7
Pandurangan Harikrishnan, Vasudevan Balakumaran
The craniofacial skeleton is designed to withstand the functional forces during mastication. Distribution of these forces is along the stress trajectories that can vary in a cleft skull compared with a normal skull. In this study, the authors constructed finite element models of cleft and normal skull and subjected them for occlusal loading in the posterior teeth. The results showed variation in the trajectories between the models and between the cleft and noncleft sides within the cleft model.
July 13, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28708649/global-craniofacial-care
#8
Kenneth E Salyer
No abstract text is available yet for this article.
July 13, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28708641/secondary-palatal-elongation-improvement-in-speech-quality
#9
Muzaffer Çelik
Cleft palate is one of the challenging problems in the field of craniofacial surgery. In particular, the conventional methods of bilateral and severe cleft palate repairs have failed to achieve normal speech. In most instances, secondary procedures such as pharyngoplasty and pharyngeal flap surgery are performed to improve speech.This study introduces secondary palatal elongation (SPE) as a new approach to cleft palate repair. The patients included usually had a short palate and unrepaired palatal muscles. The authors' procedure involved dissecting the previously repaired palatal mucosa and pushing back and cutting the nasal mucosa of the palate horizontally and further pushing it back...
July 13, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28708640/is-cleft-severity-correlated-with-intrinsic-growth-pattern-observation-from-unoperated-adult-patients-with-submucous-cleft-palate
#10
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/28707578/acute-otitis-media-in-children
#11
Alexander Kc Leung, Alex H C Wong
BACKGROUND: Acute otitis media is a common childhood infection. Prompt diagnosis and appropriate treatment are very important. OBJECTIVE: To review in depth the epidemiology, pathophysiology, clinical manifestations, diagnosis, complications and particularly treatment of acute otitis media in children. METHODS: A PubMed search was completed in Clinical Queries using the key term "acute otitis media". Patents were searched using the key term "acute otitis media" from www...
July 12, 2017: Recent Patents on Inflammation & Allergy Drug Discovery
https://www.readbyqxmd.com/read/28706789/craniometaphyseal-dysplasia-a-review-and-novel-oral-manifestation
#12
K Martin, S Nathwani, R Bunyan
Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies. We present a case report on the management of a 63 year old female with Craniometaphyseal Dysplasia. This report describes an additional clinical manifestation of hypercementosis, which although well recognised in other sclerosing osseous dysplasias, is not reported in the literature for Craniometaphyseal Dysplasia. We discuss established in vivo studies in mice which link the genetic mutations found in Craniometaphyseal Dysplasia to hypercementosis, and how this report describes the same manifestation in humans...
May 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28705894/genome-wide-analysis-of-facial-skeletal-regionalization-in-zebrafish
#13
Amjad Askary, Pengfei Xu, Lindsey Barske, Maxwell Bay, Paul Bump, Bartosz Balczerski, Michael A Bonaguidi, J Gage Crump
Patterning of the facial skeleton involves the precise deployment of thousands of genes in distinct regions of the pharyngeal arches. Despite the significance for craniofacial development, how genetic programs drive this regionalization remains incompletely understood. Here we use combinatorial labeling of zebrafish cranial neural crest-derived cells (CNCCs) to define global gene expression along the dorsoventral axis of the developing arches. Intersection of region-specific transcriptomes with expression changes in response to signaling perturbations demonstrates complex roles for Endothelin1 (Edn1) signaling in the intermediate joint-forming region, yet a surprisingly minor role in ventral-most regions...
July 13, 2017: Development
https://www.readbyqxmd.com/read/28705318/progressive-atrial-conduction-defects-associated-with-bone-malformation-caused-by-a-connexin-45-mutation
#14
Akiko Seki, Taisuke Ishikawa, Xavier Daumy, Hiroyuki Mishima, Julien Barc, Ryo Sasaki, Kiyomasa Nishii, Kayoko Saito, Mari Urano, Seiko Ohno, Saki Otsuki, Hiroki Kimoto, Alban-Elouen Baruteau, Aurelie Thollet, Swanny Fouchard, Stéphanie Bonnaud, Philippe Parent, Yosaburo Shibata, Jean-Philippe Perrin, Hervé Le Marec, Nobuhisa Hagiwara, Sandra Mercier, Minoru Horie, Vincent Probst, Koh-Ichiro Yoshiura, Richard Redon, Jean-Jacques Schott, Naomasa Makita
BACKGROUND: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. OBJECTIVES: The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. METHODS: The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes...
July 18, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28704368/mouse-models-of-17q21-31-microdeletion-and-microduplication-syndromes-highlight-the-importance-of-kansl1-for-cognition
#15
Thomas Arbogast, Giovanni Iacono, Claire Chevalier, Nurudeen O Afinowi, Xander Houbaert, Matthijs C van Eede, Christine Laliberte, Marie-Christine Birling, Katrin Linda, Hamid Meziane, Mohammed Selloum, Tania Sorg, Nael Nadif Kasri, David A Koolen, Henk G Stunnenberg, R Mark Henkelman, Maksym Kopanitsa, Yann Humeau, Bert B A De Vries, Yann Herault
Koolen-de Vries syndrome (KdVS) is a multi-system disorder characterized by intellectual disability, friendly behavior, and congenital malformations. The syndrome is caused either by microdeletions in the 17q21.31 chromosomal region or by variants in the KANSL1 gene. The reciprocal 17q21.31 microduplication syndrome is associated with psychomotor delay, and reduced social interaction. To investigate the pathophysiology of 17q21.31 microdeletion and microduplication syndromes, we generated three mouse models: 1) the deletion (Del/+); or 2) the reciprocal duplication (Dup/+) of the 17q21...
July 13, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28700256/hippo-pathway-an-emerging-regulator-of-craniofacial-and-dental-development
#16
J Wang, J F Martin
The evolutionarily conserved Hippo signaling pathway is a vital regulator of organ size that fine-tunes cell proliferation, apoptosis, and differentiation. A number of important studies have revealed critical roles of Hippo signaling and its effectors Yap (Yes-associated protein) and Taz (transcriptional coactivator with PDZ binding motif) in tissue development, homeostasis, and regeneration, as well as in tumorigenesis. In addition, recent studies have shown evidence of crosstalk between the Hippo pathway and other key signaling pathways, such as Wnt signaling, that not only regulates developmental processes but also contributes to disease pathogenesis...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28699175/long-term-health-outcomes-of-adults-with-mccune-albright-syndrome
#17
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/28698750/the-relationship-between-risk-factors-of-head-trauma-with-ct-scan-findings-in-children-with-minor-head-trauma-admitted-to-hospital
#18
Babak Masoumi, Farhad Heydari, Hamidreza Hatamabadi, Reza Azizkhani, Zahra Yoosefian, Majid Zamani
BACKGROUND: In emergency medicine for determining the intracranial injury (ICI) in children with head trauma, usually brain CT scan is performed. Since brain CT scan, especially in children, has some disadvantages, it is better to find a procedure which could help to choose only the children with real head trauma injury for brain CT scan. AIMS: The aim of this study is to find such procedure. This study was descriptive, analytic and non-interventional. METHODS: We reviewed the archived files of children with head trauma injuries referred to the emergency department of Imam Hossein Hospital within two years...
June 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28697491/trpc1-trpc3-and-trpc4-in-rat-orofacial-structures
#19
Masatoshi Fujita, Tadasu Sato, Takehiro Yajima, Eiji Masaki, Hiroyuki Ichikawa
TRPC (transient receptor potential cation channel subfamily C) members are nonselective monovalent cation channels and control Ca2+ inflow. In this study, immunohistochemistry for TRPC1, TRPC3, and TRPC4 was performed on rat oral and craniofacial structures to elucidate their distribution and function in the peripheries. In the trigeminal ganglion (TG), 56.1, 84.1, and 68.3% of sensory neurons were immunoreactive (IR) for TRPC1, TRPC3, and TRPC4, respectively. A double immunofluorescence method revealed that small to medium-sized TG neurons co-expressed TRPCs and calcitonin gene-related peptide...
July 12, 2017: Cells, Tissues, Organs
https://www.readbyqxmd.com/read/28697314/grainyhead-like-transcription-factors-in-craniofacial-development
#20
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
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