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https://www.readbyqxmd.com/read/29664868/active-transcutaneous-bone-conduction-implant-middle-fossa-placement-technique-in-children-with-bilateral-microtia-and-external-auditory-canal-atresia
#1
Carolina Der, Sofía Bravo-Torres, Nicolás Pons
AIM: The aim of this study is to present the middle fossa technique (MFT) as an alternative for patients who cannot undergo traditional surgery for active transcutaneous bone conduction implants (ATBCI) due to their altered anatomy or desire for future aesthetic reconstruction. DESIGN: A case series descriptive study was designed. The MFT was developed. Preoperative and postoperative information from 24 patients with external auditory canal atresia (EACA) and implanted with ATBCI was reviewed...
April 16, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29570515/patient-reported-quality-of-life-in-the-highest-functioning-patients-with-treacher-collins-syndrome
#2
Jéssica Pereira de Oliveira, Fernando Felipe Lodovichi, Miria Benincasa Gomes, Eda Marconi Custódio, Rafael Denadai, Cesar Augusto Raposo-Amaral, Enrico Ghizoni, Cassio Eduardo Raposo-Amaral
BACKGROUND: Treacher Collins syndrome has a wide variation of clinical presentation, including airway obstruction and hearing loss. The objective of this study was to assess patient-rated quality of life in Treacher Collins syndrome, who received multidisciplinary treatment at a specialized craniofacial hospital, and to compare their quality of life with a control sample. METHODS: Treacher Collins patients under treatment in a multidisciplinary setting were assessed with the World Health Organization Quality of Life (WHOQOL-100) questionnaire...
March 22, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29567474/treacher-collins-syndrome-3-tcs3-associated-polr1c-mutants-are-localized-in-the-lysosome-and-inhibits-chondrogenic-differentiation
#3
Naoto Matsumoto, Minami Kaneko, Natsumi Watanabe, Misa Itaoka, Yoich Seki, Takako Morimoto, Tomohiro Torii, Yuki Miyamoto, Keiichi Homma, Junji Yamauchi
Treacher Collins syndrome (TCS) is a craniofacial developmental disorder whose key feature is a combination of symptoms. For example, a patient could have bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, and atresia of the external auditory canals. TCS3 is caused by mutations of the polr1c gene, which encodes RNA polymerase I and III subunit C (POLR1C). There have been two known missense mutations (Arg279-to-Gln [R279Q] and Arg279-to-Trp [R279W]) at the Arg-279 position...
March 21, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29441214/syndromic-hearing-loss-a-brief-review-of-common-presentations-and-genetics
#4
REVIEW
John D Gettelfinger, John P Dahl
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF...
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29435930/quantum-language-of-microrna-application-for-new-cancer-therapeutic-targets
#5
Yoichi Robertus Fujii
MicroRNA (miRNA) is the noncoding gene: therefore, the miRNA gene inheritably controls protein gene expression through transcriptional and post-transcriptional levels. Aberrant expression of miRNA genes causes various human diseases, especially cancers. Although cancer is a complex disease, cancer/miRNA implication has yet been grasped from the perspective of miRNA profile in bed side. Since miRNA is the mobile genetic element, the clinical verification of miRNA in microvesicle of blood is too much straggle to predict potential cancer/miRNA associations without bioinformatical computing...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29381611/decannulation-and-airway-outcomes-with-maxillomandibular-distraction-in-treacher-collins-and-nager-syndrome
#6
Nataliya I Biskup, Brian S Pan, Haithem Elhadi-Babiker, Ronald R Hathaway, John van Aalst, Christopher B Gordon
BACKGROUND: Treacher Collins syndrome is a rare disorder (1/50,000 live births) with features that include hypoplastic orbitozygomatic complex with downward slanting eyes, and maxillary/mandibular retrusion. Obstructive sleep apnea and tracheostomy-dependence are common. This study presents the outcomes of skeletal distraction on avoidance of tracheostomy and decannulation in this patient population. METHODS: The authors reviewed charts of all patients with Treacher Collins syndrome who underwent craniofacial reconstruction from 2003 to 2016...
January 29, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29364875/tissue-selective-effects-of-nucleolar-stress-and-rdna-damage-in-developmental-disorders
#7
Eliezer Calo, Bo Gu, Margot E Bowen, Fardin Aryan, Antoine Zalc, Jialiang Liang, Ryan A Flynn, Tomek Swigut, Howard Y Chang, Laura D Attardi, Joanna Wysocka
Many craniofacial disorders are caused by heterozygous mutations in general regulators of housekeeping cellular functions such as transcription or ribosome biogenesis. Although it is understood that many of these malformations are a consequence of defects in cranial neural crest cells, a cell type that gives rise to most of the facial structures during embryogenesis, the mechanism underlying cell-type selectivity of these defects remains largely unknown. By exploring molecular functions of DDX21, a DEAD-box RNA helicase involved in control of both RNA polymerase (Pol) I- and II-dependent transcriptional arms of ribosome biogenesis, we uncovered a previously unappreciated mechanism linking nucleolar dysfunction, ribosomal DNA (rDNA) damage, and craniofacial malformations...
February 1, 2018: Nature
https://www.readbyqxmd.com/read/29275073/orbital-volume-and-shape-in-treacher-collins-syndrome
#8
Julie Levasseur, Johan Nysjö, Ronak Sandy, Jonathan A Britto, Nicolas Garcelon, Samer Haber, Arnaud Picard, Pierre Corre, Guillaume A Odri, Roman H Khonsari
Orbito-palpebral reconstruction is a challenge in Treacher Collins syndrome (TCS). This study investigates orbital phenotypes in TCS using cephalometry and orbital shape analysis. Eighteen TCS and 52 control patients were included in this study, using the Dr Warehouse database. Orbital cephalometry was based on 20 landmarks, 10 planes, 16 angles, and 22 distances. Orbits were segmented. Registration-based, age-specific mean models were generated using semi-automatic segmentation, and aligned and compared using color-coded distance maps - mean absolute distance (MAD), Hausdorff distance (HD), and Dice similarity coefficient (DSC)...
February 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29239919/accessory-auricles-systematic-review-of-definition-associated-conditions-and-recommendations-for-clinical-practice
#9
Sasan Amirhassankhani, Mark S Lloyd
Accessory auricles are rare congenital abnormalities embryologically derived from the first branchial arch. Presentation may be variable with locations grouped into anatomical zones based on the frequency of location found in the literature. This study reviewed the papers between 1981 and 2017. Findings included an association with syndromes including Goldenhar, VACTERL, Treacher-Collins, Townes-Brocks, and Wolf-Hirschhorn. Based on histological and embryological evidence, the term "accessory auricle" is best used as an umbrella term to define this difference...
March 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29230583/mutation-screening-of-chinese-treacher-collins-syndrome-patients-identified-novel-tcof1-mutations
#10
Ying Chen, Luo Guo, Chen-Long Li, Jing Shan, Hai-Song Xu, Jie-Ying Li, Shan Sun, Shao-Juan Hao, Lei Jin, Gang Chai, Tian-Yu Zhang
Treacher Collins syndrome (TCS) (OMIM 154500) is a rare congenital craniofacial disorder with an autosomal dominant manner of inheritance in most cases. To date, three pathogenic genes (TCOF1, POLR1D and POLR1C) have been identified. In this study, we conducted mutational analysis on Chinese TCS patients to reveal a mutational spectrum of known causative genes and show phenotype-genotype data to provide more information for gene counselling and future studies on the pathogenesis of TCS. Twenty-two TCS patients were recruited from two tertiary referral centres, and Sanger sequencing for the coding exons and exon-intron boundaries of TCOF1, POLR1D and POLR1C was performed...
December 11, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29168926/three-dimensional-imaging-of-soft-and-hard-facial-tissues-in-patients-with-craniofacial-syndromes-a-systematic-review-of-methodological-quality
#11
Arianne Lewyllie, Maria Cadenas De Llano-Pérula, Anna Verdonck, Guy Willems
OBJECTIVES: To systematically review the methodological quality of three-dimensional imaging studies of patients with craniofacial syndromes and to propose recommendations for future research. METHODS: PubMed, Embase and Cochrane databases as well as Grey literature were electronically searched. Inclusion criteria were patients with genetic syndromes with craniofacial manifestations and three-dimensional imaging of facial soft and/or hard tissues. Exclusion criteria consisted of non-syndromic conditions or conditions owing to environmental causes, injury or trauma, facial soft and hard tissues not included in the image analysis, case reports, reviews, opinion articles...
February 2018: Dento Maxillo Facial Radiology
https://www.readbyqxmd.com/read/29153239/congenital-abnormalities-of-the-temporomandibular-joint
#12
REVIEW
Christopher J Galea, Jason E Dashow, Jennifer E Woerner
Congenital deformities of the temporomandibular joint (TMJ) complex can present as a heterogeneous continuum of growth disturbances of the mandibular condyle, articular eminence, and temporal bone. This article describes several syndromes with congenital condylar deformity, including mandibulofacial dysostosis (Treacher Collins syndrome), hemifacial microsomia, oculoauriculovertebral syndrome, oculomandibulodyscephaly (Hallermann-Streiff syndrome), and Nager syndrome. Variations in the extent of TMJ deficiency seen in each individual case influence the timing and techniques of TMJ reconstruction...
February 2018: Oral and Maxillofacial Surgery Clinics of North America
https://www.readbyqxmd.com/read/29128566/restoration-of-polr1c-in-early-embryogenesis-rescues-the-type-3-treacher-collins-syndrome-facial-malformation-phenotype-in-zebrafish
#13
Ernest Man Lok Kwong, Jeff Cheuk Hin Ho, Marco Chi Chung Lau, May-Su You, 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. Recently, the authors' group unfolded the pathogenesis of polr1c Type 3 TCS by using the zebrafish model. Facial development depends on the neural crest cells, in which polr1c plays a role in regulating their expression. In this study, the authors aimed to identify the functional time window of polr1c in TCS by the use of photo-morpholino to restore the polr1c expression at different time points...
February 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29084117/a-review-of-randomized-controlled-trials-in-cleft-and-craniofacial-surgery
#14
Jonathan M Bekisz, Elise Fryml, Roberto L Flores
This study presents a systematic review of randomized controlled trials (RCTs) in cleft and craniofacial surgery. All studies reporting on RCTs in cleft and craniofacial surgery were identified on PubMed using the search terms "cleft," "velopharyngeal insufficiency," "velopharyngeal dysfunction," "nasoalveolar molding," "gingivoperiosteoplasty," "Pierre Robin sequence," "craniofacial," "craniosynostosis," "craniofacial microsomia," "hemifacial microsomia," "hypertelorism," "Le Fort," "monobloc," "distraction osteogenesis," "Treacher Collins," and "Goldenhar...
October 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28973381/treacher-collins-syndrome-mutations-in-saccharomyces-cerevisiae-destabilize-rna-polymerase-i-and-iii-complex-integrity
#15
Nancy Walker-Kopp, Ashleigh J Jackobel, Gianno N Pannafino, Paola A Morocho, Xia Xu, Bruce A Knutson
Treacher Collins syndrome (TCS) is a craniofacial disorder that is characterized by the malformation of the facial bones. Mutations in three genes (TCOF1, POLR1C and POLR1D) involved in RNA polymerase I (Pol I) transcription account for more than 90% of disease cases. Two of these TCS-associated genes, POLR1C and POLR1D, encode for essential Pol I/III subunits that form a heterodimer necessary for Pol I/III assembly, and many TCS mutations lie along their evolutionarily conserved dimerization interface. Here we elucidate the molecular basis of TCS mutations in Saccharomyces cerevisiae, and present a new model for how TCS mutations may disrupt Pol I and III complex integrity...
November 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28947685/-growth-of-maxillo-facial-region-and-related-anomalies
#16
Naoto Suda
Since maxillo-facial region is quite complex, growth and developmental defect cause various anomalies. It is known that 70% of whole genetic disorders have any symptom or abnormal condition in maxilla-facial region. Cleft lip and/or palate is the most popular congenital anomaly and is seen in 0.2% of general population. Cases with Treacher Collins syndrome and Robin sequence are with respiratory problem due to the small mandible or mandibular retrusion. Achondroplasia is a genetic disease with short-limbed dwarfism due to abnormal proliferation or differentiation of chondrocytes...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#17
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28921562/a-novel-approach-using-long-read-sequencing-and-ddpcr-to-investigate-gonadal-mosaicism-and-estimate-recurrence-risk-in-two-families-with-developmental-disorders
#18
Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie-Louise Bondeson
OBJECTIVE: De novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the mutation occurred. METHODS: We demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28833556/overexpression-of-p53-explains-isotretinoin-s-teratogenicity
#19
LETTER
Bodo C Melnik
The precise molecular basis of retinoid embryopathy is yet unknown. This hypothesis predicts that isotretinoin (13-cis retinoic acid), the prodrug of all-trans retinoic acid (ATRA), exaggerates neural crest cell (NCC) apoptosis via upregulation of the pro-apoptotic transcription factor p53, the guardian of the genome. Increased p53 signalling is associated with Treacher Collins-, CHARGE- and fetal alcohol syndrome, which exhibit dysmorphic craniofacial features resembling retinoid embryopathy. In addition, developmental studies of NCC homeostasis in the zebrafish support the pivotal role of p53...
January 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/28820843/cephalometric-predictors-of-clinical-severity-in-treacher-collins-syndrome
#20
Elçin Esenlik, Natalie M Plana, Barry H Grayson, Roberto L Flores
BACKGROUND: The aim of this study was to identify cephalometric measurements associated with clinical severity in patients with Treacher Collins syndrome. METHODS: A retrospective single-institution review of patients with Treacher Collins syndrome was conducted. Preoperative cephalograms and computed tomographic scans (n = 30) were evaluated. Fifty cephalometric measurements were compared to age-specific normative data using analysis of variance. These cephalometric measurements and the patient's Pruzansky classification were correlated to clinical severity using Spearman analysis...
December 2017: Plastic and Reconstructive Surgery
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