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https://www.readbyqxmd.com/read/28468148/a-morphological-classification-scheme-for-the-mandibular-hypoplasia-in-treacher-collins-syndrome
#1
Cassandra A Ligh, Jordan Swanson, Jason W Yu, Fares Samra, Scott P Bartlett, Jesse A Taylor
BACKGROUND: Mandibular hypoplasia is a hallmark of Treacher Collins syndrome (TCS), and its severity accounts for significant functional morbidity. The purpose of this study is to develop a mandibular classification scheme. METHODS: A classification scheme was designed based on three-dimensional computed tomography (3D-CT) scans to assess 3 characteristic features: degree of condylar hypoplasia, mandibular plane angle (condylion-gonion-menton), and degree of retrognathia (sella-nasion-B point angle)...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28437266/gelfoam-interposition-minimizes-risk-of-fistula-and-postoperative-bleeding-in-modified-furlow-palatoplasty
#2
Jing Li, Patrick A Gerety, James Johnston, Jesse A Taylor
Failure to accomplish a tension-free, watertight closure predisposes the palatoplasty patient to fistula formation. Perioperative bleeding also places the patient at risk for adverse airway events (AAE). This study introduces the incorporation of a hemostatic gelatin sponge (Gelfoam) into layered palatoplasty to minimize adverse postoperative bleeding and fistula formation. A retrospective chart review was performed to identify subjects who underwent Furlow palatoplasty with insertion of Gelfoam from 2010 to 2015...
April 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28263850/laser-capture-micro-dissection-combined-with-next-generation-sequencing-analysis-of-cell-type-specific-deafness-gene-expression-in-the-mouse-cochlea
#3
Shin-Ya Nishio, Yutaka Takumi, Shin-Ichi Usami
Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs...
May 2017: Hearing Research
https://www.readbyqxmd.com/read/28186364/rare-syndromes-of-the-head-and-face-mandibulofacial-and-acrofacial-dysostoses
#4
REVIEW
Karla Terrazas, Jill Dixon, Paul A Trainor, Michael J Dixon
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of the head and face. In this review, we discuss advances in our understanding of the pathogenesis of a specific array of craniofacial anomalies, termed facial dysostoses, which can be subdivided into mandibulofacial dysostosis, which present with craniofacial defects only, and acrofacial dysostosis, which encompasses both craniofacial and limb anomalies...
May 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28137637/combining-virtual-surgical-planning-intraoperative-navigation-and-3-dimensional-printing-in-prosthetic-based-bilateral-microtia-reconstruction
#5
Jason M Weissler, Michael Sosin, Amir H Dorafshar, Juan R Garcia
Reconstructing auricular deformities for bilateral microtia is a demanding challenge especially after failed autologous reconstruction. This case report presents a novel application of virtual surgical planning, computer-assisted design, and intraoperative surgical navigation to preplan and execute placement of custom-tailored silicone auricular prostheses and titanium osseointegrated implants for a bone-anchored hearing aid system in a patient with Treacher Collins syndrome in whom autologous reconstruction had previously failed...
January 4, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28134638/a-morphological-classification-scheme-for-the-mandibular-hypoplasia-in-treacher-collins-syndrome
#6
Cassandra A Ligh, Jordan Swanson, Jason W Yu, Fares Samra, Scott P Bartlett, Jesse A Taylor
BACKGROUND: Mandibular hypoplasia is a hallmark of Treacher Collins syndrome (TCS), and its severity accounts for significant functional morbidity. The purpose of this study is to develop a mandibular classification scheme. METHODS: A classification scheme was designed based on three-dimensional computed tomography (3D-CT) scans to assess 3 characteristic features: degree of condylar hypoplasia, mandibular plane angle (condylion-gonion-menton), and degree of retrognathia (sella-nasion-B point angle)...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28094032/the-airway-approach-to-a-neonate-with-treacher-collins-syndrome-case-report
#7
R Marques-Pires, H Trindade
Neonates and small infants with syndromes characterized by the presence of craniofacial abnormalities may represent great challenges regarding the management of the airway. We describe the case of a 9-day-old neonate with Treacher Collins syndrome, in which a laryngeal mask was essential to improve the airway obstruction, ventilate the patient and serve as an airway conduit for a fiberoptic intubation. By presenting this case, we intend to show that in neonates with Treacher Collins syndrome, in whom difficulties ventilation and intubation are expected, a thoughtful airway management planning is mandatory...
April 2017: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/28053912/management-of-obstructive-sleep-apnea-in-a-treacher-collins-syndrome-patient-using-distraction-osteogenesis-of-the-mandible
#8
İbrahim Damlar, Ahmet Altan, Berk Turgay, Soydan Kiliç
In this study, we present the surgical treatment of obstructive sleep apnea in a child with Treacher Collins syndrome. A 10-year-old girl with a past history of Treacher Collins syndrome presented to our clinic with her parents for respiratory distress and insomnia. The patient was referred to a sleep laboratory where she was diagnosed with obstructive sleep apnea, which was a consequence of her Treacher Collins syndrome. The patient underwent mandibular distraction osteogenesis under general anesthesia. The mandible was expanded by 15 mm using internal bilateral distractors...
December 2016: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#9
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28045828/bilateral-malar-reconstruction-using-patient-specific-polyether-ether-ketone-implants-in-treacher-collins-syndrome-patients-with-absent-zygomas
#10
David C G Sainsbury, Alan George, Christopher R Forrest, John H Phillips
The authors performed bilateral malar reconstruction using polyether ether ketone implants in 3 patients with Treacher-Collins syndrome with absent, as opposed to hypoplastic, zygomata. These patient-specific implants were fabricated using computed-aided design software reformatted from three-dimensional bony preoperative computed tomography images. The first time the authors performed this procedure the implant compressed the globe resulting in temporary anisocoria that was quickly recognized intraoperatively...
March 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28028964/genetic-factors-in-selected-complex-congenital-malformations-with-cleft-defect
#11
REVIEW
Piotr Wójcicki, Maciej J Koźlik, Karolina Wójcicka
Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The most common related defects include abnormalities of the skeleton, skull, cardiovascular and nervous system. The occurrence of a cleft results from the interplay of multiple genes and environmental factors. Several thousand different mutations responsible for these syndromes have been discovered, whereas there are still numerous phenotypic cases of unknown genetic origin...
September 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/27777025/treacher-collins-syndrome-new-insights-from-animal-models
#12
William Ka Fai Tse
Treacher Collins syndrome (TCS, OMIM: 154500), an autosomal-dominant craniofacial developmental syndrome that occurs in 1 out of every 50,000 live births, is characterized by craniofacial malformation. Mutations in TCOF1, POLR1C, or POLR1D have been identified in affected individuals. In addition to established mouse models, zebrafish models have recently emerged as an valuable method to study facial disease. In this report, we summarized the two updated articles working on the pathogenesis of the newly identified polr1c and polr1d TCS mutations (Lau et al...
December 2016: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/27720275/combined-soft-and-skeletal-tissue-modelling-of-normal-and%C3%A2-dysmorphic-midface-postnatal-development
#13
Amel Ibrahim, Michael Suttie, Neil W Bulstrode, Jonathan A Britto, David Dunaway, Peter Hammond, Patrizia Ferretti
BACKGROUND: Midface hypoplasia as exemplified by Treacher Collins Syndrome (TCS) can impair appearance and function. Reconstruction involves multiple invasive surgeries with variable long-term outcomes. This study aims to describe normal and dysmorphic midface postnatal development through combined modelling of skeletal and soft tissues and to develop a surgical evaluation tool. MATERIALS AND METHODS: Midface skeletal and soft tissue surfaces were extracted from computed tomography scans of 52 control and 14 TCS children, then analysed using dense surface modelling...
November 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27711076/cnbp-ameliorates-treacher-collins-syndrome-craniofacial-anomalies-through-a-pathway-that-involves-redox-responsive-genes
#14
Mauro S Porcel de Peralta, Valeria S Mouguelar, María Antonella Sdrigotti, Felipe A A Ishiy, Roberto D Fanganiello, Maria R Passos-Bueno, Gabriela Coux, Nora B Calcaterra
Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Treacle. Here we report a novel TCS-like zebrafish model displaying features that fully recapitulate the spectrum of craniofacial abnormalities observed in patients. As it was reported for a Tcof1(+/-) mouse model, Treacle depletion in zebrafish caused reduced rRNA transcription, stabilization of Tp53 and increased cell death in the cephalic region...
October 6, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27692368/-difficult-fiberoptic-tracheal-intubation-in-1-month-old-infant-with-treacher-collins-syndrome
#15
Ricardo Fuentes, Juan Carlos De la Cuadra, Hector Lacassie, Alejandro González
Neonates and small infants with craniofacial malformation may be very difficult or impossible to mask ventilate or intubate. We would like to report the fiberoptic intubation of a small infant with Treacher Collins Syndrome using the technique described by Ellis et al. CASE REPORT: An one month-old infant with Treacher Collins Syndrome was scheduled for mandibular surgery under general endotracheal anesthesia. Direct laryngoscopy for oral intubation failed to reveal the glottis. Fiberoptic intubation using nasal approach and using oral approach through a 1...
September 27, 2016: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/27607112/long-term-surgical-and-speech-outcomes-following-palatoplasty-in-patients-with-treacher-collins-syndrome
#16
Michael S Golinko, Etoile M LeBlanc, Andrew M Hallett, Michael Alperovich, Roberto L Flores
BACKGROUND: Cleft palate is present in one-third of patients with Treacher-Collins syndrome. The authors present long-term speech and surgical outcomes of palatoplasty in this challenging patient population. METHODS: A retrospective review of all patients with Treacher-Collins syndrome and cleft palate was conducted over a 35-year period at a single institution. Demographics, palatal, mandibular, airway, and surgical outcomes were recorded. Speech outcomes were assessed by the same craniofacial speech pathologist...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27579239/malar-reconstruction-using-y-v-advancement-flaps-after-tissue-expansion-in-treacher-collins-syndrome
#17
Koichi Ueda, Takashi Nuri, Yuka Shigemura
The Treacher Collins syndrome is characterized by both soft and hard tissue deficiencies. To reconstruct malar hypoplasia with both soft and hard tissues, we designed a new method using cartilage grafts, Y-V advancement flaps, and Z plasty with tissue expansion.
May 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/27526242/mutational-analysis-of-tcof1-gsc-and-hoxa2-in-patients-with-treacher-collins-syndrome
#18
Shaojuan Hao, Lei Jin, Huijun Wang, Chenlong Li, Fengyun Zheng, Duan Ma, Tianyu Zhang
Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene. Few cases have been observed in the Chinese population. Herein, the authors report the mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. Genomic DNA of the patients and their parents was extracted from peripheral blood following a standard protocol. DNA sequencing analysis was performed on all exons and the exon-intron borders of TCOF1, GSC, and HOXA2 in addition to the 1200-bp upstream of TCOF1...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27488991/speech-language-pathology-findings-in-a-treacher-collins-syndrome-patient
#19
Giselle Massi, Dayane Roberta de França, Rosane Sampaio Santos, Angela Ribas, Vinícios Duarte Fonseca, Ana Cristina Guarinello, Nadine de Biagi Ziesemer
BACKGROUND: Treacher Collins syndrome (TCS) is a rare disorder with different levels of severity due to congenital head and face abnormalities which affect language, orofacial musculature, voice and breadth, suction, chewing and swallowing functions. AIMS: This paper objectifies to report a Treacher Collins syndrome patient, describing phonoaudiological changes that can be found in individuals suffering from this syndrome. METHODS & PROCEDURES: The study was carried out with a male child at a teaching Speech Language Pathology clinic in Southern Brazil...
2016: International Tinnitus Journal
https://www.readbyqxmd.com/read/27448281/the-roles-of-rna-polymerase-i-and-iii-subunits-polr1c-and-polr1d-in-craniofacial-development-and-in-zebrafish-models-of-treacher-collins-syndrome
#20
Kristin E Noack Watt, Annita Achilleos, Cynthia L Neben, Amy E Merrill, Paul A Trainor
Ribosome biogenesis is a global process required for growth and proliferation of all cells, yet perturbation of ribosome biogenesis during human development often leads to tissue-specific defects termed ribosomopathies. Transcription of the ribosomal RNAs (rRNAs) by RNA polymerases (Pol) I and III, is considered a rate limiting step of ribosome biogenesis and mutations in the genes coding for RNA Pol I and III subunits, POLR1C and POLR1D cause Treacher Collins syndrome, a rare congenital craniofacial disorder...
July 2016: PLoS Genetics
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