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https://www.readbyqxmd.com/read/28636124/the-ips-scale-a-new-soft-tissue-assessment-scale-for-percutaneous-and-transcutaneous-implants-for-bone-conduction-devices
#1
Ivo J Kruyt, Rik C Nelissen, Martin L Johansson, Emmanuel A M Mylanus, Myrthe K S Hol
Percutaneous titanium implants for bone conduction devices (BCDs) have offered, since 1977, a solution for patients with hearing loss not treatable by conventional hearing aids, such as patients with chronic ear infections or microtia and/or ear canal atresia. Percutaneous implants imply a continuous breach in the mechanical defensive barrier of the skin. To compensate for this breach, immunological mechanisms in the subcutaneous tissue surrounding the implant become more active. This article is protected by copyright...
June 21, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28625897/differential-expression-of-long-noncoding-rnas-in-congenital-microtia
#2
Ling Zhang, Lin Lin, Yu-Peng Song, Bo Pan, Qing-Hua Yang, Hai-Yue Jiang
OBJECTIVE: To analyse lncRNA expression profiles in microtia using bioinformatics analysis. METHODS: We examined lncRNA expression profiles in residual ear cartilage and normal ear cartilage from individual congenital microtia patients. RESULTS: The gene chips used in this study included 30586 lncRNAs and 26109 mRNA probes. Intotal, 180 lncRNAs with differential expression weredetected in the residual ear cartilage compared with the normal cartilage, including 74 up-regulated and 106down-regulated lncRNAs...
June 15, 2017: Gene Expression Patterns: GEP
https://www.readbyqxmd.com/read/28538573/pursuing-mirror-image-reconstruction-in-unilateral-microtia-customizing-auricular-framework-by-application-of-three-dimensional-imaging-and-three-dimensional-printing
#3
Hsin-Yu Chen, Li-Shia Ng, Chun-Shin Chang, Ting-Chen Lu, Ning-Hung Chen, Zung-Chung Chen
BACKGROUND: Advances in three-dimensional imaging and three-dimensional printing technology have expanded the frontier of presurgical design for microtia reconstruction from two-dimensional curved lines to three-dimensional perspectives. This study presents an algorithm for combining three-dimensional surface imaging, computer-assisted design, and three-dimensional printing to create patient-specific auricular frameworks in unilateral microtia reconstruction. METHODS: Between January of 2015 and January of 2016, six patients with unilateral microtia were enrolled...
June 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28473682/bilateral-microtia-canal-atresia-and-aplasia-of-cochleovestibular-nerve
#4
A Asma, A R Roslenda, I Fadzilah, A Mazita, M B Marina, A Ab Aziz
A six-month-old baby with congenital patent ductus arteriosus (PDA), bilateral microtia and canal atresia was referred for hearing assessment. The audiology assessment revealed bilateral profound hearing loss, which is atypical for a case of pure canal atresia. Imaging was performed much earlier than usual and, as suspected, the patient also had bilateral severe inner ear anomaly. It is extremely rare for a person to have both external and inner ear anomaly because of the different embryological origin. The only suitable hearing rehabilitation option for this kind of patients is brainstem implant...
April 2017: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28468140/microtia-and-social-media-patient-versus-physician-perspective-of-quality-of-information
#5
Sarvnaz Sepehripour, Ann Louise McDermott, Mark Sheldon Lloyd
INTRODUCTION: Previous research demonstrates that patients seek high-quality information on the World Wide Web, especially in rare conditions such as microtia. Social media has overtaken other sources of patient information but quality remains untested. This study quantifies the quality of information for patients with Microtia on social media compared with nonsocial media websites and compares physician and patient scoring on quality using the DISCERN tool. METHODS: In phase 1, quality of the top 100 websites featuring information "Microtia" was ranked according to quality score and position on Google showing the position of social media websites among other nonsocial media websites...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28465028/the-technique-for-3d-printing-patient-specific-models-for-auricular-reconstruction
#6
Roberto L Flores, Hannah Liss, Samuel Raffaelli, Aiza Humayun, Kimberly S Khouri, Paulo G Coelho, Lukasz Witek
PURPOSE: Currently, surgeons approach autogenous microtia repair by creating a two-dimensional (2D) tracing of the unaffected ear to approximate a three-dimensional (3D) construct, a difficult process. To address these shortcomings, this study introduces the fabrication of patient-specific, sterilizable 3D printed auricular model for autogenous auricular reconstruction. METHODS: A high-resolution 3D digital photograph was captured of the patient's unaffected ear and surrounding anatomic structures...
April 6, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28445373/auricular-reconstruction-in-hemifacial-microsomia-with-an-expanded-two-flap-method
#7
Jin Qian, Zhibin Li, Tun Liu, Xu Zhou, Qingguo Zhang
BACKGROUND: Reconstruction of external ear is important for the child/adult with craniofacial deformities to achieve balance and harmony of the face and head. The aim of this study was to investigate the clinical application of an expanded two-flap method for auricular reconstruction in hemifacial microsomia. METHODS: Between January of 2014 and November of 2015, 111 hemifacial microsomia patients with microtia underwent auricular reconstruction with an expanded two-flap method...
May 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28377826/goldenhar-syndrome-with-dextrocardia-and-right-pulmonary-hypoplasia-an-unusual-association
#8
Nagendra Chaudhary, Sandeep Shrestha, Hemant Kumar Halwai
Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28350674/a-new-microtia-reconstruction-method-using-delayed-postauricular-skin-flap
#9
Gaofeng Li, Fan Zhang, Wei Ding, Zihan Wu, Yigao Hu, Tao Luo, Bo Zhang, Xia Jiang
BACKGROUND: This article presents a new microtia reconstruction method using a delayed postauricular skin flap. METHODS: The surgery is scheduled in three stages, the first of which delays the postauricular skin flap and deals with the remnant auricle. Three weeks later, the second stage is carried out. An erect, three-dimensional ear framework fabricated from autogenous rib cartilage is inserted between two flaps. The anterior auricular surface of the framework is draped with the delayed skin flap, and the postauricular surface is draped with postauricular fascia and overlying grafted skin...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28350666/long-term-comparison-between-human-normal-conchal-and-microtia-chondrocytes-regenerated-by-tissue-engineering-on-nanofiber-polyglycolic-acid-scaffolds
#10
COMPARATIVE STUDY
Hitomi Nakao, Robin D Jacquet, Mark Shasti, Noritaka Isogai, Ananth S Murthy, William J Landis
BACKGROUND: Previous regeneration studies of auricle-shaped cartilage by tissue engineering leave unresolved whether the chondrocyte phenotype from human auricular chondrocytes seeded onto polymeric scaffolds is retained over the long term and whether microtia remnants may be a viable cell source for auricular reconstruction. METHODS: Chondrocytes were isolated from human ears, either normal conchal ear or microtia cartilage remnants, expanded in vitro, and seeded onto nanoscale-diameter polyglycolic acid sheets...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28326677/implantation-and-positioning-of-a-transcutaneous-magnetic-bone-conduction-hearing-system-for-children-with-microtia-in-preparation-for-auricular-reconstruction
#11
S Sharma, N Bulstrode, A Marshall
No abstract text is available yet for this article.
March 22, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28319315/maxillofacial-features-and-systemic-malformations-in-expanded-spectrum-hemifacial-microsomia
#12
Noah Cohen, Erica Cohen, Alberto Gaiero, Silvia Zecca, Graziella Fichera, Federica Baldi, Joseph Felix Giordanetto, Jacques Marie Mercier, Amnon Cohen
Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28296718/qualitative-methods-in-the-development-of-a-bilingual-and-bicultural-quality-of-life-outcomes-measure-for-pediatric-patients-with-craniofacial-conditions
#13
Viridiana Juarez Tapia, Julia Helene Drizin, Cecilia Dalle Ore, Marcelo Nieto, Yajahira Romero, Sandra Magallon, Rohith Nayak, Alicia Sigler, Vanessa Malcarne, Amanda Gosman
INTRODUCTION: Craniofacial surgeons treat patients with diverse craniofacial conditions (CFCs). Yet, little is known about the health-related quality of life (HRQoL) impact of diverse CFCs. Currently, there are no suitable instruments that measure the HRQoL of patients with diverse CFCs from the perspective of children and parents. The objective of this study was to develop the items and support the content validity of a comprehensive patient and parent-reported outcomes measure. METHODS: An iterative process consisting of a systematic literature review, expert opinion and in-depth interviews with patients and parents of patients with diverse CFCs was used...
May 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28296686/sternal-development-and-variations-and-anomalies-in-patients-with-microtia-evaluation-using-3-dimensional-computed-tomography
#14
MeiRong Yang, Haiyue Jiang, Xiaobo Yu, Weiwei Chen, Qingsong Li, Ye Zhang, Bo Pan
OBJECTIVE: The objectives of this study were to evaluate sternal development and variations in patients with microtia and to identify the incidence of congenital sternal anomalies and then to investigate the interaction between microtia and sternal anomalies. METHODS: A total of 212 consecutive patients received a preoperative 3-dimensional chest computed tomography. A retrospective study was performed with the clinical and imaging data from November 2014 to July 2015...
March 15, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28296084/de-novo-loss-of-function-variants-in-stag2-are-associated-with-developmental-delay-microcephaly-and-congenital-anomalies
#15
Sureni V Mullegama, Steven D Klein, Milene V Mulatinho, Tharanga Niroshini Senaratne, Kathryn Singh, Dzung C Nguyen, Natalie M Gallant, Samuel P Strom, Shahnaz Ghahremani, Nagesh P Rao, Julian A Martinez-Agosto
The cohesin complex is an evolutionarily conserved multi-subunit protein complex which regulates sister chromatid cohesion during mitosis and meiosis. Additionally, the cohesin complex regulates DNA replication, DNA repair, and transcription. The core of the complex consists of four subunits: SMC1A, SMC3, RAD21, and STAG1/2. Loss-of-function mutations in many of these proteins have been implicated in human developmental disorders collectively termed "cohesinopathies." Through clinical exome sequencing (CES) of an 8-year-old girl with a clinical history of global developmental delay, microcephaly, microtia with hearing loss, language delay, ADHD, and dysmorphic features, we describe a heterozygous de novo variant (c...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28293505/accurate-measurements-of-the-skin-surface-area-of-the-healthy-auricle-and-skin-deficiency-in-microtia-patients
#16
Iris A Otto, Rob F M van Doremalen, Ferry P W Melchels, Michail N Kolodzynski, Behdad Pouran, Jos Malda, Moshe Kon, Corstiaan C Breugem
BACKGROUND: The limited cranial skin covering auricular implants is an important yet underrated factor in auricular reconstruction for both reconstruction surgery and tissue engineering strategies. We report exact measurements on skin deficiency in microtia patients and propose an accessible preoperative method for these measurements. METHODS: Plaster ear models (n = 11; male:female = 2:1) of lobular-type microtia patients admitted to the University Medical Center Utrecht in The Netherlands were scanned using a micro-computed tomographic scanner or a cone-beam computed tomographic scanner...
December 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28214971/complete-occipitalization-of-the-atlas-with-bilateral-external-auditory-canal-atresia
#17
Janez Dolenšek, Erika Cvetko, Žiga Snoj, Marija Meznaric
Fusion of the atlas with the occipital bone is a rare congenital dysplasia known as occipitalization of the atlas, occipitocervical synostosis, assimilation of the atlas, or atlanto-occipital fusion. It is a component of the paraxial mesodermal maldevelopment and commonly associated with other dysplasias of the craniovertebral junction. External auditory canal atresia or external aural atresia is a rare congenital absence of the external auditory canal. It occurs as the consequence of the maldevelopment of the first pharyngeal cleft due to defects of cranial neural crest cells migration and/or differentiation...
February 18, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28198774/a-new-classification-of-helix-fabrication-methods-with-autogenous-costal-cartilage-in-microtia-reconstruction
#18
Zhicheng Xu, Feng Xu, Ruhong Zhang, Qun Zhang, Datao Li, Yiyuan Li
BACKGROUND: Recreating the complex architecture of the auricle poses one of the most demanding challenges for the plastic surgeon. The fabrication of the prominent helix is crucial to the final contour of the constructed ear. The success of helix carving depends greatly on the complicated characteristics of the cartilage used, which is commonly the eighth costal cartilage. The authors elaborate on the relevant details for helix sculpting based on different qualities of cartilage. METHODS: A series of 415 microtia patients underwent autogenous costal cartilage auricular reconstruction between 2012 and 2015...
June 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28198391/mcm5-a-new-actor-in-the-link-between-dna-replication-and-meier-gorlin-syndrome
#19
Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, Cristina Cerqua, Geppo Sartori, Ivan Limongelli, Antonella Forlino, Silvia Maruelli, Paola Perucca, Debora Vergani, Giuliano Mazzini, Andrea Mattevi, Lucia Anna Stivala, Leonardo Salviati, Orsetta Zuffardi
Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recessive mutations in ORC1, ORC4, ORC6, CDT1, CDC6, and CDC45, encoding members of the pre-replication (pre-RC) and pre-initiation (pre-IC) complexes, and heterozygous mutations in GMNN, a regulator of cell-cycle progression and DNA replication, have already been associated with this condition. We performed whole-exome sequencing (WES) in a patient with a clinical diagnosis of MGORS and identified biallelic variants in MCM5...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28186598/-a-boy-with-meier-gorlin-syndrome-carrying-a-novel-orc6-mutation-and-uniparental-disomy-of-chromosome-16
#20
Juan Li, Yu Ding, Guoying Chang, Qing Cheng, Xin Li, Jian Wang, Xiumin Wang, Yiping Shen
OBJECTIVE: To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS). METHODS: Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants. RESULTS: The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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