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First branchial anomaly

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https://www.readbyqxmd.com/read/29092806/an-effective-surgical-approach-for-the-management-of-recurrent-first-branchial-cleft-fistula-with-cysts-a-case-report
#1
Mi Jang, Chunfu Dai
The goal of this case report is to describe an unusual case of recurrent first branchial cleft fistula with cysts and the effective surgical approach of complete removal with preservation of the facial nerve. A 27-year-old woman presented to our clinic after unsuccessful removal twice during the last 20 years. We have achieved satisfactory outcomes by using an approach to identify the facial nerve at the stylomastoid foramen with canal wall up mastoidectomy under a microscope. No sign of facial palsy, hearing loss, or recurrence were noted in postoperative follow-up...
November 2, 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/29050094/-relationship-between-work-%C3%A2-type-of-congenital-first-branchial-cleft-anomaly-and-facial-nerve-and-surgical-strategies
#2
B Zhang, L S Chen, S L Huang, L Liang, X X Gong, P N Wu, S Y Zhang, X N Luo, J D Zhan, X L Sheng, Z M Lu
Objective: To investigate the relationship between Work Ⅱ type of congenital first branchial cleft anomaly (CFBCA) and facial nerve and discuss surgical strategies. Methods: Retrospective analysis of 37 patients with CFBCA who were treated from May 2005 to September 2016. Among 37 cases with CFBCA, 12 males and 25 females; 24 in the left and 13 in the right; the age at diagnosis was from 1 to 76 ( years, with a median age of 20, 24 cases with age of 18 years or less and 13 with age more than 18 years; duration of disease ranged from 1 to 10 years (median of 6 years); 4 cases were recurren after fistula resection...
October 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28672934/first-branchial-cleft-anomalies-in-children-experience-with-30-cases
#3
Wanpeng Li, Liming Zhao, Hongming Xu, Xiaoyan Li
First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed...
July 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28669484/vertebral-anomalies-in-craniofacial-microsomia-a-systematic-review
#4
REVIEW
R W Renkema, C J J M Caron, I M J Mathijssen, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Craniofacial microsomia (CFM) is characterized by a heterogeneous underdevelopment of the facial structures arising from the first and second branchial arches, but extracraniofacial malformations such as vertebral anomalies also occur. This systematic review provides an overview of the literature on the types and prevalence of vertebral anomalies found in patients with CFM. A systematic search was conducted. Data on the number of patients, patient characteristics, types and prevalence of vertebral anomalies, and other associations between CFM and vertebral anomalies were extracted from the articles identified...
October 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28634783/the-treatment-for-the-first-branchial-cleft-anomalies-in-children
#5
Wei Liu, Min Chen, Jinsheng Hao, Yang Yang, Jie Zhang, Xin Ni
The objective of this study is to make a clinical analysis for first branchial cleft anomalies (FBCAs), especially introduce the relationship between the Type I/II FBCA with the facial nerve and to demonstrate the importance of using intraoperative microscope and facial nerve monitoring. This is a retrospective review of patients with FBCAs treated in Beijing Children's Hospital, from Jan 2013 to Dec 2015. Clinical data of patients, including sex, age, chief complains, history of surgery, incision and drainage, the relationship with the facial nerve, pre and post-operative facial paralysis, recurrent rate and complications were recorded...
June 20, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28483243/branchial-arch-anomalies-recurrence-malignant-degeneration-and-operative-complications
#6
Faisal Al-Mufarrej, David Stoddard, Uldis Bite
OBJECTIVE: Branchial arch anomalies (BAA) represent one of the commonest pediatric neck masses, but large case series are lacking with none specifically examining risk of recurrence, surgical complications, and malignancy. STUDY DESIGN: Retrospective study of patients with BAA at Mayo Clinic from 1/1/1976-7/29/2011. METHODS: Features studied include age, gender, location, BAA type, symptoms, recurrence, preoperative management, extent of surgery, pathology as well as presence of tracts...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28377826/goldenhar-syndrome-with-dextrocardia-and-right-pulmonary-hypoplasia-an-unusual-association
#7
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/27358179/mutations-in-myt1-encoding-the-myelin-transcription-factor-1-are-a-rare-cause-of-oavs
#8
Estelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, Sandrine Marlin, Annick Toutain, Françoise Denoyelle, Arnaud Picard, Sabine Charron, Guilaine Mathieu, Harmony de Belvalet, Benoit Arveiler, Patrick J Babin, Didier Lacombe, Caroline Rooryck
BACKGROUND: Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by asymmetric ear anomalies, hemifacial microsomia, ocular defects and vertebral malformations. Although numerous chromosomal abnormalities have been associated with OAVS, no causative gene has been identified so far. OBJECTIVES: We aimed to identify the first causative gene for OAVS. METHODS: As sporadic cases are mostly described in Goldenhar syndrome, we have performed whole exome sequencing (WES) on selected affected individuals and their unaffected parents, looking for de novo mutations...
June 29, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27329940/specification-of-jaw-identity-by-the-hand2-transcription-factor
#9
Noriko Funato, Hiroki Kokubo, Masataka Nakamura, Hiromi Yanagisawa, Yumiko Saga
Acquisition of the lower jaw (mandible) was evolutionarily important for jawed vertebrates. In humans, syndromic craniofacial malformations often accompany jaw anomalies. The basic helix-loop-helix transcription factor Hand2, which is conserved among jawed vertebrates, is expressed in the neural crest in the mandibular process but not in the maxillary process of the first branchial arch. Here, we provide evidence that Hand2 is sufficient for upper jaw (maxilla)-to-mandible transformation by regulating the expression of homeobox transcription factors in mice...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27170934/diagnosis-of-osteopetrosis-in-bilateral-congenital-aural-atresia-turning-point-in-treatment-strategy
#10
Ritu Verma, Manisha Jana, Ashu Seith Bhalla, Arvind Kumar, Rakesh Kumar
Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients...
May 8, 2016: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/27087030/prenatal-diagnosis-and-physical-model-reconstruction-of-agnathia-otocephaly-with-limb-deformities-absent-ulna-fibula-and-digits-following-maternal-exposure-to-oxymetazoline-in-the-first-trimester
#11
Gláucia Aparecida Menezes, Edward Araujo Júnior, Jorge Lopes, Simone Belmonte, Gabriele Tonni, Heron Werner
Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly...
August 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27034873/surgical-approaches-to-first-branchial-cleft-anomaly-excision-a-case-series
#12
Lourdes Quintanilla-Dieck, Frank Virgin, Chistopher Wootten, Steven Goudy, Edward Penn
Objectives. First branchial cleft anomalies (BCAs) constitute a rare entity with variable clinical presentations and anatomic findings. Given the high rate of recurrence with incomplete excision, identification of the entire tract during surgical treatment is of paramount importance. The objectives of this paper were to present five anatomic variations of first BCAs and describe the presentation, evaluation, and surgical approach to each one. Methods. A retrospective case review and literature review were performed...
2016: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/26927898/intraoperative-use-of-fibrin-glue-dyed-with-methylene-blue-in-surgery-for-branchial-cleft-anomalies
#13
Michela Piccioni, Marco Bottazzoli, Nader Nassif, Stefania Stefini, Piero Nicolai
OBJECTIVES/HYPOTHESIS: We present a new method of optimizing the results of surgery for branchial cleft anomalies based on the intraoperative injection of fibrin glue combined with methylene blue dye. STUDY DESIGN: Retrospective single-center cohort study. METHODS: The method was applied in 17 patients suffering from branchial anomalies. Six (35.29%) had a preauricular lesion; three (17.65%) had lesions derived from the first arch/pouch/groove (type I), four (23...
September 2016: Laryngoscope
https://www.readbyqxmd.com/read/26819565/a-case-report-a-third-fourth-branchial-pouch-anomaly-presented-by-solid-thyroid-and-lateral-cervical-neck-masses
#14
Magda H A Nasreldin, Eman A Ibrahim, Somaia A Saad El-Din
Branchial pouch-derived anomalies may arise from remnants of the first, second, or third/fourth branchial arches. Branchial pouch-related structures are found within the thyroid gland in the form of solid cell rests, epithelial lined cyst with or without an associated lymphoid component, thymic and/or parathyroid tissue, and less commonly in the form of heterotopic cartilage. We present a rare case of left solid thyroid swelling nearby two cervical nodules in a seven-year-old female with a clinical diagnosis suggestive of malignant thyroid tumor with metastasis to the cervical lymph nodes...
2016: Clinical Medicine Insights. Pathology
https://www.readbyqxmd.com/read/26635984/craniofacial-microsomia-goldenhar-syndrome-in-association-with-bilateral-congenital-cataract
#15
U D Shrestha, S Adhikari
Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM...
2015: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/26527228/dental-management-of-a-patient-with-nager-acrofacial-dysostosis
#16
R Bozatlıoğlu, A P Münevveroğlu
Nager syndrome is a rare syndrome resulting from developmental abnormalities of the first and second branchial arches. Nager syndrome is rare and mostly sporadic. The main clinical features consist of craniofacial, limb, and musculoskeletal morphogenesis. These findings included malar hypoplasia, maxillomandibular hypoplasia, micrognathia, downslanting palpebral fissures, cleft palate, ear anomalies, hypoplastic thumb, short forearm, proximal radioulnar synostosis, atrial septal defect, lower limb deformities, and flat nasal bridge...
2015: Case Reports in Dentistry
https://www.readbyqxmd.com/read/26403983/branchial-cleft-and-pouch-anomalies-in-childhood-a-report-of-50-surgical-cases
#17
C Spinelli, L Rossi, S Strambi, J Piscioneri, G Natale, A Bertocchini, A Messineo
BACKGROUND AND AIMS: Branchial abnormalities occur when there is disturbance in the maturation of the branchial apparatus during fetal development. Branchial anomalies are congenital lesions usually present in childhood, even if they can be diagnosed later for enlargement or infection. A correct diagnosis will lead to proper management: complete surgical excision is the treatment of choice. The purpose of this article is to present clinical features, diagnostic methods and surgical treatment of branchial anomalies in childhood, based on a series of 50 patients...
May 2016: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/26372111/oropharyngeal-trauma-mimicking-a-first-branchial-cleft-anomaly
#18
Aisha Larem, Rashid Sheikh, Abdulsalam Al Qahtani, Frat Khais, Shanmugam Ganesan, Hassan Haidar
We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngeal trauma, with a delayed presentation as a retroauricular cyst accompanied by otorrhea that mimicked the classic presentation of an infected first branchial cleft anomaly. During surgical excision of the presumed branchial anomaly, a large wooden stick was found in the tract. The diagnostic and therapeutic obstacles in the management of such cases are highlighted...
September 15, 2015: Laryngoscope
https://www.readbyqxmd.com/read/26215722/a-review-over-the-past-15-years-of-the-management-of-the-internal-piriform-apex-sinus-tract-of-a-branchial-pouch-anomaly-and-case-description
#19
REVIEW
Gary D Josephson, Kaelan Black
OBJECTIVES: Literature review of treating the piriform apex sinus tract through microlaryngoscopy and a case description. REVIEW METHODS: Fourteen papers were identified in PubMed using the search criteria of piriform sinus fistula, microlaryngoscopic repair, and endoscopy. Institutional Review Board approval was obtained. RESULTS: One hundred forty-five cases including ours were available for review, with 182 procedures. Sixty-two cases were male, 73 female, and 10 genders were not reported...
December 2015: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/26134413/foxl2-modulates-cartilage-skeletal-development-and-igf1-dependent-growth-in-mice
#20
Mara Marongiu, Loredana Marcia, Emanuele Pelosi, Mario Lovicu, Manila Deiana, Yonqing Zhang, Alessandro Puddu, Angela Loi, Manuela Uda, Antonino Forabosco, David Schlessinger, Laura Crisponi
BACKGROUND: Haploinsufficiency of the FOXL2 transcription factor in humans causes Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES), characterized by eyelid anomalies and premature ovarian failure. Mice lacking Foxl2 recapitulate human eyelid/forehead defects and undergo female gonadal dysgenesis. We report here that mice lacking Foxl2 also show defects in postnatal growth and embryonic bone and cartilage formation. METHODS: Foxl2 (-/-) male mice at different stages of development have been characterized and compared to wild type...
July 2, 2015: BMC Developmental Biology
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