keyword
MENU ▼
Read by QxMD icon Read
search

Treacher collins

keyword
https://www.readbyqxmd.com/read/28094032/the-airway-approach-to-a-neonate-with-treacher-collins-syndrome-case-report
#1
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...
January 13, 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
#2
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
#3
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
#4
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...
December 30, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28028964/genetic-factors-in-selected-complex-congenital-malformations-with-cleft-defect
#5
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
#6
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
#7
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
#8
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
#9
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...
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27373049/-the-research-progress-of-treacher-collins-syndrome
#15
REVIEW
Pu Wang, Xinmiao Fan, Yue Fan
Treacher Collins syndrome (TCS, OMIM 154500), also known as Franceschetti-Klein syndrome, is a rare disorder that affects the first and second branchial arches. The estimated incidence is 1/50 000 live births. Mutations in TCOF1 (78%-93%) and POLR1C or POLR1D (8%) cause the disease. Most of TCS cases are inherited in a dominant pattern, while a small proportion are inherited in a recessive pattern. TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia, mandibular hypoplasia and microtia...
February 2016: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/27300466/tcof1-related-molecular-networks-in-treacher-collins-syndrome
#16
Jiewen Dai, Jiawen Si, Minjiao Wang, Li Huang, Bing Fang, Jun Shi, Xudong Wang, Guofang Shen
Treacher Collins syndrome (TCS) is a rare, autosomal-dominant disorder characterized by craniofacial deformities, and is primarily caused by mutations in the Tcof1 gene. This article was aimed to perform a comprehensive literature review and systematic bioinformatic analysis of Tcof1-related molecular networks in TCS. First, the up- and down-regulated genes in Tcof1 heterozygous haploinsufficient mutant mice embryos and Tcof1 knockdown and Tcof1 over-expressed neuroblastoma N1E-115 cells were obtained from the Gene Expression Omnibus database...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27171953/the-craniofacial-and-upper-limb-management-of-nager-syndrome
#17
Shaheel Chummun, Neil R McLean, Peter J Anderson, Christianne van Nieuwenhoven, Irene Mathijssen, David J David
INTRODUCTION: Nager syndrome is a rare condition characterized by craniofacial and upper limb abnormalities. It is commonly mistaken for Treacher Collins syndrome, with which it shares the same craniofacial phenotype. However, patients with Treacher Collins do not exhibit hand anomalies, which are seen in patients with Nager syndrome. This paper reviews the multidisciplinary management of patients with Nager syndrome who were treated at the Australian Craniofacial Unit, Adelaide and the Erasmus Medical Centre, Rotterdam...
June 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27070215/treacher-collins-syndrome-a-systematic-review-of-evidence-based-treatment-and-recommendations
#18
Christian Herlin, David Genevieve, Marie Vincent, Benoit Chaput, Guillaume Captier
No abstract text is available yet for this article.
August 2016: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27070214/reply-treacher-collins-syndrome-a-systematic-review-of-evidence-based-treatment-and-recommendations
#19
Raul G Plomp, Irene M J Mathijssen
No abstract text is available yet for this article.
August 2016: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/26972049/pathogenesis-of-polr1c-dependent-type-3-treacher-collins-syndrome-revealed-by-a-zebrafish-model
#20
Marco Chi Chung Lau, Ernest Man Lok Kwong, Keng Po Lai, Jing-Woei Li, Jeff Cheuk Hin Ho, Ting-Fung Chan, Chris Kong Chu Wong, Yun-Jin Jiang, William Ka Fai Tse
Treacher Collins Syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects, including the downward slanting palpebral fissures, hypoplasia of the facial bones, and cleft palate (CP). Over 90% of patients with TCS have a mutation in the TCOF1 gene. However, some patients exhibit mutations in two new causative genes, POLR1C and POLR1D, which encode subunits of RNA polymerases I and III, that affect ribosome biogenesis. In this study, we examine the role of POLR1C in TCS using zebrafish as a model system...
June 2016: Biochimica et Biophysica Acta
keyword
keyword
59842
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"