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Craniofacial deformity

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https://www.readbyqxmd.com/read/29450629/congenital-cervical-kyphosis-in-an-infant-with-ehlers-danlos-syndrome
#1
Andrew J Kobets, Daniel Komlos, John K Houten
BACKGROUND: Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children...
February 15, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29447756/the-biomechanical-significance-of-the-frontal-sinus-in-kabwe-1-homo-heidelbergensis
#2
Ricardo Miguel Godinho, Paul O'Higgins
Paranasal sinuses are highly variable among living and fossil hominins and their function(s) are poorly understood. It has been argued they serve no particular function and are biological 'spandrels' arising as a structural consequence of changes in associated bones and/or soft tissue structures. In contrast, others have suggested that sinuses have one or more functions, in olfaction, respiration, thermoregulation, nitric oxide production, voice resonance, reduction of skull weight, and craniofacial biomechanics...
January 2018: Journal of Human Evolution
https://www.readbyqxmd.com/read/29428340/long-term-outcomes-of-craniofacial-implants-for-the-restoration-of-facial-defects
#3
S S Subramaniam, O Breik, B Cadd, G Peart, D Wiesenfeld, A Heggie, S D Gibbons, A Nastri
The aim of this study was to evaluate the long-term survival of craniofacial implants and prostheses and to identify factors associated with failure in a cohort of patients. A 25-year retrospective analysis was conducted at Royal Melbourne Hospital. Data included demographic characteristics, age, site and cause of the deformity, and number and survival of implants. Odds ratios were calculated and event-to-time Kaplan-Meier analyses performed. One hundred and ten patients were included (341 implants); their mean age was 46...
February 7, 2018: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29411501/compound-mutations-in-bmpr1a-and-tak1-synergize-facial-deformities-via-increased-cell-death
#4
Xia Liu, Satoru Hayano, Haichun Pan, Maiko Inagaki, Jun Ninomiya-Tsuji, Hongchen Sun, Yuji Mishina
BMP signaling plays a critical role in craniofacial development. Augmentation of BMPR1A signaling through neural crest-specific expression of constitutively active Bmpr1a (caBmpr1a) results in craniofacial deformities in mice. To investigate whether deletion of Tak1 may rescue the craniofacial deformities caused by enhanced Smad-dependent signaling through caBMPR1A, we generated embryos to activate transcription of caBmpr1a transgene and ablate Tak1 in neural crest derivatives at the same time. We found that deformities of the double mutant mice showed more severe than those with each single mutation, including median facial cleft and cleft palate...
February 7, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/29397922/the-effects-of-different-preservation-methods-on-ide-leuciscus-idus-sperm-and-the-longevity-of-sperm-movement
#5
G Bernáth, Zs Csenki, Z Bokor, L Várkonyi, J Molnár, T Szabó, Á Staszny, Á Ferincz, K Szabó, B Urbányi, L O Pap, B Csorbai
The present study investigated the effects of chilled storage and cryopreservation on ide sperm motility and fertilizing capacity alongside the longevity of sperm movement. The parameters of motility (progressive motility-pMOT, curvilinear velocity-VCL and straightness-STR) have been recorded during 48 h of chilled storage (4 °C) at 24-h intervals. The longevity of sperm movement was measured following activation for up to 120 s (in a range at 10-120 s) in freshly stripped and thawed sperm. A formerly established cryopreservation method was tested on ide sperm where motility parameters, hatching rate and larval malformation (according to 7 category groups) were investigated...
January 31, 2018: Cryobiology
https://www.readbyqxmd.com/read/29387309/correction-of-a-posttraumatic-orbital-deformity-using-three-dimensional-modeling-virtual-surgical-planning-with-computer-assisted-design-and-three-dimensional-printing-of-custom-implants
#6
Kristopher M Day, Paul M Phillips, Larry A Sargent
We describe a case of complex, posttraumatic skull and orbital deformities that were evaluated and treated with advanced computer technology, including virtual surgical planning, three-dimensional (3D) modeling, and printed patient custom implants (PCI) fabricated by 3D printing. A 50-year-old man presented to our craniofacial referral center 1 year after failed reduction of complex left orbital, zygomatic, and frontal bone fractures due to a motorcycle collision. The patient's chief complaint was debilitating diplopia in all fields of gaze...
March 2018: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/29370119/inadequate-dietary-phosphorus-levels-cause-skeletal-anomalies-and-alter-osteocalcin-gene-expression-in-zebrafish
#7
Juliana M Costa, Maria M P Sartori, Nivaldo F do Nascimento, Samir M Kadri, Paulo E M Ribolla, Danillo Pinhal, Luiz E Pezzato
Phosphorus (P) is an essential mineral for the development and maintenance of the vertebrate skeletal system. Modulation of P levels is believed to influence metabolism and the physiological responses of gene expression. In this study, we investigated the influence of dietary P on skeletal deformities and osteocalcin gene expression in zebrafish (Danio rerio), and sought to determine appropriate levels in a diet. We analyzed a total of 450 zebrafish within 31 days of hatching. Animals were distributed in a completely randomized experimental design that consisted of five replications...
January 25, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29358133/third-molar-agenesis-as-a-potential-marker-for-craniofacial-deformities
#8
Clarissa Christina Avelar Fernandez, Christiane Vasconcellos Cruz Alves Pereira, Ronir Raggio Luiz, Italo M Faraco, Mary L Marazita, Maria Arnaudo, Flavia M de Carvalho, Fernando E Poletta, Juan C Mereb, Eduardo E Castilla, Iêda M Orioli, Marcelo de Castro Costa, Alexandre Rezende Vieira
The identification of clinical patterns of tooth agenesis in individuals born with craniofacial deformities may be a useful tool for risk determination of these defects. We hypothesize that specific craniofacial deformities are associated with third molar agenesis. OBJECTIVE: The aim of this study was to identify if third molar agenesis could have a relation with other craniofacial structure alterations, such as cleft lip and palate, skeletal malocclusion, or specific growth patterns in humans...
January 19, 2018: Archives of Oral Biology
https://www.readbyqxmd.com/read/29356097/association-of-single-nucleotide-polymorphisms-in-wnt-genes-with-the-risk-of-non-syndromic-cleft-lip-with-or-without-cleft-palate
#9
Houshang Rafighdoost, Mohammad Hashemi, Hossein Asadi, Gholamreza Bahari
Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors have been indicated to be related with susceptibility to NSCL/P. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of NSCL/P. In the present study we aimed to inspect the relationship between WNT3 (rs3809857, rs9890413), WNT3A (rs752107, rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and NSCL/P in an Iranian population...
January 22, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29354594/surgical-correction-of-grade-iii-hypertelorism
#10
Ehtesham Ul Haq, Muhammad Umar Qayyum, Muhammad Iran Ilahı, Saadat Ali Janjua, Ayesha Aslam, Rubbab Zahra
Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital...
December 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/29351039/resorbable-plates-in-secondary-cleft-nasal-reconstruction
#11
Pey-Yi Lin, Anthony P Gibson, John F Teichgraeber, Matthew R Greives
OBJECTIVE: The authors report on the use and complications of alloplastic resorbable plates and compare their use to autologous cartilage grafts in secondary cleft nasal reconstruction. DESIGN: Institutional review board (IRB)-approved retrospective chart review. SETTING: Texas Cleft-Craniofacial Center at the McGovern Medical School at the University of Texas Health Sciences Center at Houston. PATIENTS: Patients with unilateral or bilateral cleft lip nasal deformity who have undergone secondary correction of their nasal deformity with at least 1-year follow-up...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29336649/severe-craniofacial-involvement-due-to-amniotic-band-sequence
#12
Luis Eduardo Becerra-Solano, Gema Castañeda-Cisneros, Jorge Roman Corona-Rivera, Manuel Díaz-Rodríguez, Luis Eduardo Figuera, Eunice López-Muñoz, José Antonio Nastasi-Catanese, José Jesús Toscano-Flores, María de Lourdes Ramírez-Dueñas, José Elias García-Ortíz
BACKGROUND: Disruptive amniotic band sequence (DABS) is a sporadic, non-familial disorder with unclear etiology. Diagnosis is based on clinical features because there is currently no reliable laboratory diagnostic tests. OBJECTIVE: We describe six cases of DABS with severe craniofacial deformations, three with and three without classical constrictive limb deformation. RESULTS: The craniofacial deformities were delimited by peripheral sharply demarcated scarring...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29303454/head-shape-at-age-36-months-among-children-with-and-without-a-history-of-positional-skull-deformation
#13
Brent R Collett, Brian G Leroux, Erin R Wallace, Emily Gallagher, Jason Shao, Matthew L Speltz
OBJECTIVE In this study, the authors examined head shape through age 36 months for children with and without a history of positional plagiocephaly and/or brachycephaly (PPB). METHODS Infants with PPB (cases) were identified through a craniofacial clinic at the time of diagnosis. Infants without diagnosed PPB were identified through a participant registry. Clinician ratings of 3D cranial images were used to confirm the presence or absence of PPB. The cohort included 235 case infants (diagnosed PPB, confirmed with 3D imaging), 167 unaffected controls (no diagnosed PPB, no deformation detected), and 70 affected controls (no diagnosed PPB, discernible skull deformation)...
January 5, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29299192/an-atypical-case-of-craniometaphyseal-dysplasia-case-report-and-surgical-treatment
#14
Giorgio Novelli, Emanuela Ardito, Fabio Mazzoleni, Alberto Bozzetti, Davide Sozzi
Introduction: Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth of the facial and skull bones. Craniometaphyseal dysplasia occurs in an autosomal dominant (AD) and an autosomal recessive (AR) form. Case report: We present a 32-year-old patient arrived at our unit in May 2009. His main discomfort was a major limitation of the mouth opening, in the context of a craniofacial deformity...
April 2017: Annali di Stomatologia
https://www.readbyqxmd.com/read/29276151/bmal1-deficiency-contributes-to-mandibular-dysplasia-by-upregulating-mmp3
#15
Jiajia Zhao, Xin Zhou, Qingming Tang, Ran Yu, Shaoling Yu, Yanlin Long, Cen Cao, Jun Han, Anbing Shi, Jeremy J Mao, Xiong Chen, Lili Chen
Skeletal mandibular hypoplasia (SMH), one of the common types of craniofacial deformities, seriously affects appearance, chewing, pronunciation, and breathing. Moreover, SMH is prone to inducing obstructive sleep apnea syndrome. We found that brain and muscle ARNT-like 1 (BMAL1), the core component of the molecular circadian oscillator, was significantly decreased in mandibles of juvenile SMH patients. Accordingly, SMH was observed in circadian-rhythm-disrupted or BMAL1-deficient mice. RNA sequencing and protein chip analyses suggested that matrix metallopeptidase 3 (MMP3) is the potential target of BMAL1...
December 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29217065/orthognathic-considerations-of-vascular-malformations
#16
REVIEW
Luis Delgado, Avanti Verma, Teresa M O, Stuart Super
Vascular malformations affect the craniofacial skeleton in many ways, depending on the type of the lesion and its location. The lesions may exert a mass effect and cause thinning or thickening of the bone or cause expansion from direct bony infiltration. Orthognathic surgery can be used to correct any malocclusion or open bite deformities after the soft tissues are addressed.
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29216270/generation-and-characterization-of-kctd15-mutations-in-zebrafish
#17
Alison Heffer, Gregory D Marquart, Allisan Aquilina-Beck, Nabil Saleem, Harold A Burgess, Igor B Dawid
Potassium channel tetramerization domain containing 15 (Kctd15) was previously found to have a role in early neural crest (NC) patterning, specifically delimiting the region where NC markers are expressed via repression of transcription factor AP-2a and inhibition of Wnt signaling. We used transcription activator-like effector nucleases (TALENs) to generate null mutations in zebrafish kctd15a and kctd15b paralogs to study the in vivo role of Kctd15. We found that while deletions producing frame-shift mutations in each paralog showed no apparent phenotype, kctd15a/b double mutant zebrafish are smaller in size and show several phenotypes including some affecting the NC, such as expansion of the early NC domain, increased pigmentation, and craniofacial defects...
2017: PloS One
https://www.readbyqxmd.com/read/29194345/embryonic-ethanol-exposure-affects-early-and-late-added-cardiac-precursors-and-produces-long-lasting-heart-chamber-defects-in-zebrafish
#18
Swapnalee Sarmah, James A Marrs
Drinking mothers expose their fetuses to ethanol, which produces birth defects: craniofacial defects, cognitive impairment, sensorimotor disabilities and organ deformities, collectively termed as fetal alcohol spectrum disorder (FASD). Various congenital heart defects (CHDs) are present in FASD patients, but the mechanisms of alcohol-induced cardiogenesis defects are not completely understood. This study utilized zebrafish embryos and older larvae to understand FASD-associated CHDs. Ethanol-induced cardiac chamber defects initiated during embryonic cardiogenesis persisted in later zebrafish life...
December 1, 2017: Toxics
https://www.readbyqxmd.com/read/29192866/frontoethmoidal-meningoencephalocele-appraisal-of-a-craniofacial-surgical-teaching-program-in-cambodia
#19
Franck-Emmanuel Roux, Cheng Ngiep Ou, Ratha Soum, James Gollogly, Imène Djidjeli, Frédéric Lauwers
OBJECTIVE The treatment of frontoethmoidal meningoencephaloceles (fMECs) in Cambodia was not possible before the development of a program that taught some Khmer surgeons (working at the Children's Surgical Centre in Phnom Penh) how to surgically correct these deformities without any foreign help. The results of that teaching program are discussed in this paper. METHODS Between 2004 and 2009, both local and visiting foreign neurosurgical and craniofacial surgeons (the visitors coming twice a year) worked together to operate on 200 patients, and a report on those cases was published in 2010...
December 1, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29192304/association-of-hearing-loss-and-otologic-outcomes-with-fibrous-dysplasia
#20
Alison M Boyce, Carmen Brewer, Timothy R DeKlotz, Christopher K Zalewski, Kelly A King, Michael T Collins, H Jeffrey Kim
Importance: Fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) are rare bone and endocrine disorders in which expansile fibro-osseous lesions result in deformity, pain, and functional impairment. The effect of FD on hearing and otologic function has not been established. Objectives: To characterize audiologic and otologic manifestations in a large cohort of individuals with FD/MAS and to investigate potential mechanisms of hearing loss. Design, Setting, and Participants: In this natural history study, individuals with craniofacial FD seen at a clinical research center underwent clinical, biochemical, computed tomographic, audiologic, and otolaryngologic evaluations...
November 30, 2017: JAMA Otolaryngology—Head & Neck Surgery
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