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https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#1
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28209378/facial-nerve-paralysis-after-super-selective-intra-arterial-chemotherapy-for-oral-cancer
#2
S Sugiyama, T Iwai, S Oguri, T Koizumi, K Mitsudo, I Tohnai
Facial nerve paralysis (FNP) after super-selective intra-arterial chemotherapy (SSIAC) is a relatively rare local side effect of SSIAC to the maxillary artery (MA) or the middle meningeal artery (MMA). The incidence and prognosis of FNP after SSIAC in 381 patients with oral cancer (133 with catheterization of the MA, 248 without) was investigated retrospectively. Only three patients (two male and one female) had FNP, for an incidence of 0.8%. All patients with FNP had undergone catheterization of the MA, and the incidence of FNP in this group was 2...
February 10, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28199538/analysis-of-factors-associated-with-rhytidectomy-malpractice-litigation-cases
#3
Aron Kandinov, Sean Mutchnick, Vaibhuv Nangia, Peter F Svider, Giancarlo F Zuliani, Mahdi A Shkoukani, Michael A Carron
Importance: This study investigates the financial burden of medical malpractice litigation associated with rhytidectomies, as well as factors that contribute to litigation and poor defendant outcomes, which can help guide physician practices. Objective: To comprehensively evaluate rhytidectomy malpractice litigation. Data Sources and Study Selection: Jury verdict and settlement reports related to rhytidectomy malpractice litigations were obtained using the Westlaw Next database...
February 9, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/28198771/correlation-between-facial-nerve-axonal-load-and-age-and-its-relevance-to-facial-reanimation
#4
Austin Hembd, Purushottam Nagarkar, Justin Perez, Andrew Gassman, Philip Tolley, Joan Reisch, Charles L White, Shai Rozen
PURPOSE: Two-stage facial reanimation procedures with a cross-facial nerve graft often have unsatisfactory results in the older patient. Although the cause of result variability is likely multifactorial, some studies suggest that increased donor nerve axonal load improves function of a free muscle transfer after a cross-facial nerve graft. This study attempts to characterize the relationship between age and facial nerve axonal load. METHODS: 63 fresh, cadaveric heads were dissected to expose the facial nerve...
February 13, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28197706/efficacy-of-the-red-blood-cell-distribution-width-for-predicting-the-prognosis-of-bell-palsy-a-pilot-study
#5
Yuichiro Horibe, Tohru Tanigawa, Rei Shibata, Hiroshi Nonoyama, Fumiya Kano, Satoshi Yamaguchi, Kenta Murotani, Takaki Ogawa, Hiromi Ueda
The aim of this study was to investigate the association between RDW values and the prognosis of patients with Bell palsy in an effort to find a prognostic biomarker that predicts recovery from Bell palsy. We measured RDW and evaluated facial movement in 61 patients with Bell palsy aged 50 years and less. All patients were treated with a steroid plus an antiviral agent. Seven patients underwent surgery for facial nerve decompression. During the post-treatment period, patients with a Yanagihara grading score of 36 or more were regarded as having a satisfactory recovery...
February 14, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28195750/dosimetric-analysis-of-neural-and-vascular-structures-in-skull-base-tumors-treated-with-stereotactic-radiosurgery
#6
Yarah M Haidar, Jay M Bhatt, Yaser Ghavami, Omid Moshtaghi, Amanda Schwer, Stafford Chenery, Hamid R Djalilian
Objective To examine the relationship between the prescribed target dose and the dose to healthy neurovascular structures in patients with vestibular schwannomas treated with stereotactic radiosurgery (SRS). Study Design Case series with chart review. Setting SRS center from 2011 to 2013. Subjects Twenty patients with vestibular schwannomas treated at the center from 2011 to 2013. Methods Twenty patients with vestibular schwannomas were included. The average radiation dose delivered to healthy neurovascular structures (eg, carotid artery, basilar artery, facial nerve, trigeminal nerve, and cochlea) was analyzed...
February 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28194509/fetal-facial-nerve-course-in-the-ear-region-revisited
#7
Zhe Wu Jin, Kwang Ho Cho, Hiroshi Abe, Yukio Katori, Gen Murakami, Jose Francisco Rodríguez-Vázquez
PURPOSE: The aim of this study was to re-examine the structures that determine course of the facial nerve (FN) in the fetal ear region. MATERIALS AND METHODS: We used sagittal or horizontal sections of 28 human fetuses at 7-8, 12-16, and 25-37 weeks. RESULTS: The FN and the chorda tympani nerve ran almost parallel until 7 weeks. The greater petrosal nerve (GPN) ran vertical to the distal FN course due to the trigeminal nerve ganglion being medial to the geniculate ganglion at 7 weeks...
February 14, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28193257/bell-s-palsy-in-children-bellpic-protocol-for-a-multicentre-placebo-controlled-randomized-trial
#8
Franz E Babl, Mark T Mackay, Meredith L Borland, David W Herd, Amit Kochar, Jason Hort, Arjun Rao, John A Cheek, Jeremy Furyk, Lisa Barrow, Shane George, Michael Zhang, Kaya Gardiner, Katherine J Lee, Andrew Davidson, Robert Berkowitz, Frank Sullivan, Emily Porrello, Kim Marie Dalziel, Vicki Anderson, Ed Oakley, Sandy Hopper, Fiona Williams, Catherine Wilson, Amanda Williams, Stuart R Dalziel
BACKGROUND: Bell's palsy or acute idiopathic lower motor neurone facial paralysis is characterized by sudden onset paralysis or weakness of the muscles to one side of the face controlled by the facial nerve. While there is high level evidence in adults demonstrating an improvement in the rate of complete recovery of facial nerve function when treated with steroids compared with placebo, similar high level studies on the use of steroids in Bell's palsy in children are not available. The aim of this study is to assess the utility of steroids in Bell's palsy in children in a randomised placebo-controlled trial...
February 13, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28193110/pontine-tegmental-cap-dysplasia-in-an-extremely-preterm-infant-and-review-of-the-literature
#9
Sylvie Picker-Minh, Sebastian Hartenstein, Hans Proquitté, Sebastian Fröhler, Vera Raile, Nadine Kraemer, Sarah Apeshiotis, Michael Leipoldt, Karim D Kalache, Deborah Morris-Rosendahl, Eugen Boltshauser, Wei Chen, Angela M Kaindl
Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dysplasia born at 25 weeks of gestation and provide an overview of 29 sporadic cases. A prenatally diagnosed hypoplastic and rostrally shifted cerebellum was indicative of a hindbrain defect and later identified as an early sign of pontine tegmental cap dysplasia in our patient...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28192771/miescher-s-cheilitis-surgical-management-and-long-term-outcome-of-an-extremely-severe-case
#10
Alessandro Innocenti, Marco Innocenti, Cecilia Taverna, Dario Melita, Francesco Mori, Francesco Ciancio, Vincenzo De Giorgi, Paola Parronchi, Alessandra Vultaggio, Andrea Matucci
INTRODUCTION: Miescher's cheilitis is clinically characterized by persistent swelling of the lip(s). Its pathogenesis is still unknown. Histopathologically is characterized by sub-epithelial edema, increased number of dilated lymphatic vessels and an inflammatory infiltrate and/or non-caseating/non- necrotic granulomas. Even if the disorder must be controlled by medical therapy, surgery may be required to treat most severe cases. PRESENTATION OF THE CASE: We report a 30-year-old man who presented a persistent swelling of both lips since 8 years, previously treated with intralesional steroid and immunosuppressive therapy...
January 30, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28192382/endoscopic-management-of-middle-ear-paragangliomas-a-case-series
#11
Daniel E Killeen, Cameron C Wick, Jacob B Hunter, Alejandro Rivas, George B Wanna, João Flávio Nogueira, Joe Walter Kutz, Brandon Isaacson
OBJECTIVE: To investigate the efficacy and safety of endoscopic middle ear paraganglioma (glomus tympanicum) resection. STUDY DESIGN: Case series with chart review. SETTING: Multi-institutional tertiary university medical centers. PATIENTS: Adult patients with middle ear paragangliomas treated via a transcanal endoscopic approach from 1/2012 to 11/2015. INTERVENTION: All tumors were initially approached via a transcanal endoscopic technique...
March 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28192265/microsurgical-outcomes-after-gross-total-resection-on-vestibular-schwannoma-in-the-elderly-a-matched-cohort-study
#12
Nian Jiang, Zaibin Wang, Wen Chen, Yuanyang Xie, Zefeng Peng, Jian Yuan, Siyi Wanggou, Yandong Su, Xuejun Li, Xianrui Yuan
OBJECTIVES: To compare and analyze the differences in clinical manifestations and surgical outcomes after gross total resection (GTR) for vestibular schwannoma (VS) between elderly and younger patients. METHODS: We conducted a retrospective study of 40 elderly (≥65 years) and 40 younger (< 65 years) patients, and matched operation dates and tumor size in the 2 groups were matched. All 80 patients underwent microsurgical resection though the sigmoid approach, by the same surgeon (Professor Xianrui Yuan, M...
February 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28188418/interobserver-variability-of-the-house-brackmann-facial-nerve-grading-system-for-the-analysis-of-a-randomized-multi-center-phase-iii-trial
#13
Christian Scheller, Andreas Wienke, Marcos Tatagiba, Alireza Gharabaghi, Kristofer F Ramina, Konstanze Scheller, Julian Prell, Johannes Zenk, Oliver Ganslandt, Barbara Bischoff, Cordula Matthies, Thomas Westermaier, Gregor Antoniadis, Maria Teresa Pedro, Veit Rohde, Kajetan von Eckardstein, Thomas Kretschmer, Malte Kornhuber, Fred G Barker, Christian Strauss
BACKGROUND: Evidence of a high interobserver variability of the subjective House-Brackmann facial nerve grading system (HBGS) would justify cost- and time-consuming technological enhancements of objective classifications for facial nerve paresis. METHOD: A total of 112 patients were recruited for a randomized multi-center trial to investigate the efficacy of prophylactic nimodipine treatment in vestibular schwannoma (VS) surgery. For the present investigation both treatment groups were pooled for the assessment of facial nerve function preoperatively, in the early postoperative course and 1 year after the surgery...
February 10, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28186468/nocifensive-behaviors-in-mice-with-radiation-induced-oral-mucositis
#14
Michael W Nolan, C Tyler Long, Karen L Marcus, Shayan Sarmadi, Donald M Roback, Tomoki Fukuyama, Wolfgang Baeumer, B Duncan X Lascelles
Oral mucositis can result in significant dysphagia, and is the most common dose-limiting acute toxicity in head and neck cancer patients receiving chemoradiotherapy. There is a critical need to determine the cellular and molecular mechanisms that underlie radiotherapy-associated discomfort in patients with mucositis. The objective was to induce oral mucositis in mice, using a clinical linear accelerator, and to quantify resultant discomfort, and characterize peripheral sensitization. A clinical linear accelerator was used to deliver ionizing radiation to the oral cavity of mice...
February 10, 2017: Radiation Research
https://www.readbyqxmd.com/read/28186449/efficacy-and-outcomes-of-facial-nerve-sparing-treatment-approach-to-cerebellopontine-angle-meningiomas
#15
Randy S D'Amico, Matei A Banu, Petros Petridis, Alexandra S Bercow, Hani Malone, Moshe Praver, Tony J C Wang, Steven R Isaacson, Michael B Sisti
OBJECTIVE Advanced microsurgical techniques contribute to reduced morbidity and improved surgical management of meningiomas arising within the cerebellopontine angle (CPA). However, the goal of surgery has evolved to preserve the quality of the patient's life, even if it means leaving residual tumor. Concurrently, Gamma Knife radiosurgery (GKRS) has become an acceptable and effective treatment modality for newly diagnosed, recurrent, or progressive meningiomas of the CPA. The authors review their institutional experience with CPA meningiomas treated with GKRS, surgery, or a combination of surgery and GKRS...
February 10, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28182295/development-of-cranial-muscles-in-the-actinopterygian-fish-senegal-bichir-polypterus-senegalus-cuvier-1829
#16
Masatsugu Noda, Tsutomu Miyake, Masataka Okabe
Polypterus senegalus Cuvier, 1829 is one of the most basal living actinopterygian fish and a member of the Actinopterygii. We analyzed the spatial and temporal pattern of cranial muscle development of P. senegalus using whole-mount immunostaining and serial sectioning. We described the detailed structure of the external gill muscles which divided into dorsal and ventral parts after yolk exhaustion. The pattern of the division is similar to that of urodeles. We suggest that, the external gill muscles of P. senegalus are involved in spreading and folding of the external gill stem and the branches...
February 9, 2017: Journal of Morphology
https://www.readbyqxmd.com/read/28180050/utility-of-an-ultrasonic-aspirator-in-transcanal-endoscopic-resection-of-temporal-bone-paraganglioma
#17
Brendan P O'Connell, Jacob B Hunter, Matthew L Carlson, Brandon Isaacson, Alejandro Rivas, George B Wanna
The objective of this study was to evaluate the role of removing middle ear paragangliomas using an ultrasonic aspirator (UA) through a transcanal, exclusively endoscopic approach. Three consecutive patients undergoing transcanal endoscopic resection of middle ear paragangliomas using an UA were retrospectively studied. The primary outcome measure was achieving gross total tumor resection. Secondary outcomes included postoperative hearing and early convalescence. Two glomus tympanicum tumors and one small glomus jugulare were included, and complete tumor resection was achieved endoscopically in all cases...
February 2017: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/28178096/relative-location-of-fundus-meatus-acustici-interni-via-porus-acusticus-internus-in-facial-nerve-decompression
#18
Xu Liu, Haodong Wang, Kailiang Cheng, Youqiong Li
Facial neural edema is the pathophysiological base of Bell's palsy. The middle cranial fossa approach is used to relieve the oppression of facial nerve at its most narrow course in the facial canal. In this research, the authors mainly discussed the internal auditory canal segment of facial nerve, completely in the shadow of the bony structure, which is inconvenient for transmastoid decompression. Therefore, the objective was to explore the definite position of the fundus meatus acustici interni from internal acoustic pore...
February 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28178035/facial-nerve-bifurcation-in-congenital-oval-window-atresia
#19
Jiaying Liu, Joo Hong Chuah, Euan Murugasu
No abstract text is available yet for this article.
January 7, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28173896/effects-of-a-sensory-branch-to-the-posterior-external-ear-canal-coughing-pain-ramsay-hunt-s-syndrome-and-hitselberger-s-sign
#20
S Mulazimoglu, R Flury, S Kapila, T Linder
BACKGROUND: A distinct nerve innervating the external auditory canal can often be identified in close relation to the facial nerve when gradually thinning the posterior canal wall. This nerve has been attributed to coughing during cerumen removal, neuralgic pain, Hitselberger's sign and vesicular eruptions described in Ramsay Hunt's syndrome. This study aimed to demonstrate the origin and clinical impact of this nerve. METHODS AND RESULTS: In patients with intractable otalgia or severe coughing whilst inserting a hearing aid, who responded temporarily to local anaesthesia, the symptoms could be resolved by sectioning a sensory branch to the posterior canal...
February 8, 2017: Journal of Laryngology and Otology
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