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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/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#2
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28210639/an-interesting-case-of-tolosa-hunt-syndrome-in-a-young-male
#3
Ghulam Murtaza, Nicholas Konowitz, Hannah Lu, Anadil Faqah, Aneesh Kuruvilla
Tolosa-Hunt syndrome is a rare disease with a limited number of cases reported in the literature. It typically presents with orbital pain associated with palsy of the third, fourth, or sixth cranial nerve. We present an interesting case of Tolosa-Hunt syndrome in a young male who responded well to high-dose steroids and in a few days had significant improvement in his retro-orbital pain and ocular movements.
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28210514/hemorrhagic-colloid-cyst-presenting-with-acute-hydrocephaly
#4
Reza Akhavan, Behrouz Zandi, Masoud Pezeshki-Rad, Donya Farrokh, Bita Abbasi
Colloid cysts are benign slow-growing cystic lesions located on the roof of the third ventricle that usually present with symptoms related to gradual rise of intracranial pressure. They mostly remain asymptomatic and sometimes grow progressively and cause diverse symptoms associated with increased intracranial pressure such as headache, diplopia, and sixth cranial nerve palsy. Here we report a 47-year-old female who presented to the emergency department with acute severe headache and nausea/vomiting. On MRI examination acute hydrocephaly due to hemorrhagic colloid cyst was detected...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28208948/abducens-nerve-palsy-in-pregnancy-a-case-report
#5
Sayedeh Reyhaneh Yousefi, Shokrollah Zandi
Headache, blurring of vision and confusion are neurologic symptoms of preeclampsia. Whereas abducens nerve palsy during pregnancy is an extremely rare condition, we report here a 40-year-old patient with diplopia, blurring of vision and abducens nerve palsy in the 39(th) week of pregnancy with history of hypertension (HTN). No specific pathology was found. Symptoms of abducens nerve palsy were resolved spontaneously by controlling blood pressure after delivery.
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208891/outcomes-of-capsular-dissection-technique-with-use-of-bipolar-electrocautery-in-total-thyroidectomy-a-rural-tertiary-center-experience
#6
Amal T Das, S B Prakash, V Priyadarshini
INTRODUCTION: Total thyroidectomy is one of the most routinely performed head and neck surgical procedures with extremely low mortality. This procedure has been associated with two major complications such as recurrent laryngeal nerve injury and hypocalcaemia due to parathyroid insufficiency. The use of bipolar electrocautery has not been widely accepted in view of thermal damage to adjacent structures. AIM: To study the outcomes and complications of capsular dissection technique along with use of bipolar electrocautery in total thyroidectomy...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28197706/efficacy-of-the-red-blood-cell-distribution-width-for-predicting-the-prognosis-of-bell-palsy-a-pilot-study
#7
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/28194713/use-of-compressive-osseointegration-endoprostheses-for-massive-bone-loss-from-tumor-and-failed-arthroplasty-a-viable-option-in-the-upper-extremity
#8
Krista A Goulding, Adam Schwartz, Steven J Hattrup, R Lor Randall, Donald Lee, Damian M Rispoli, Daniel M Lerman, Christopher Beauchamp
BACKGROUND: Endoprostheses using principles of compressive osseointegration have shown good survivorship in several studies involving the lower extremity; however, no series to our knowledge have documented the use of this technology in the management of massive bone loss in the upper limb. QUESTIONS/PURPOSES: (1) What proportion of upper extremity implants using compressive osseointegration fixation principles achieved durable short-term fixation, and what were the modes of failure? (2) What surgical complications resulted from reconstruction using this technique? METHODS: A multiinstitutional retrospective review identified nine patients (five women; four men) who underwent 13 endoprosthetic replacements between 2003 and 2014 using compressive osseointegration (Compliant(®) Pre-stress Device [CPS]; Biomet Inc, Warsaw, IN, USA) in the upper extremity, including two proximal humeri, two humeral diaphyses, seven distal humeri, and two proximal ulna...
February 13, 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/28193257/bell-s-palsy-in-children-bellpic-protocol-for-a-multicentre-placebo-controlled-randomized-trial
#9
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/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/28185774/is-the-superior-laryngeal-nerve-really-safe-when-using-harmonic-focus-in-total-thyroidectomy-a-prospective-randomized-study
#11
Kemal Arslan, Bulent Erenoglu, Osman Dogru, Gultekin Ovet, Ersin Turan, Arif Atay, Hande Koksal
BACKGROUND: Harmonic focus (HF) was introduced in thyroid surgery in an effort to reduce operation time and complications. OBJECTIVE: The present study aimed to compare function of superior laryngeal nerve and incidence of other postoperative complications in total thyroidectomies using HF and conventional ligation (CL). METHODS: The trial is a randomized single-center, single-blinded study. Patients aged ≥ 18 years scheduled for total thyroidectomy were considered for participation...
February 6, 2017: Asian Journal of Surgery
https://www.readbyqxmd.com/read/28183050/deep-peroneal-nerve-palsy-due-to-osteochondroma-arising-from-fibular-head-and-proximal-lateral-tibia
#12
Murat Demiroğlu, Korhan Özkan, Bulent Kılıç, Akif Akçal, Mesut Akkaya, Feyza Ünlü Özkan
Following median and ulnar nerves, peroneal nerve entrapment is the most frequent nerve involvement in the body Katirji and Wilbourn (1998) [1]. Osteochondromas are the most common benign bone tumors comprising 9% of all bone tumors and 35% of benign bone tumors Porter (2000) [2]. Hereditary exostoses (HME) is an autosomal dominant disorder with variable penetrance characterized by multiple osteochondromas near joints. It is one of the most commonskeletal dysplasias with a frequency of about 1.18%. In this study, we aimed to present a case with a drop foot resulting from osteochondromas of proximal tibia and fibula and help to guide the clinicians in differential diagnosis according to SCARE criteria Agha (2016) [3]...
January 24, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28182149/anterior-segment-ischemia-after-strabismus-surgery
#13
Emine Seyhan Göçmen, Yonca Atalay, Özlem Evren Kemer, Hikmet Yavuz Sarıkatipoğlu
A 46-year-old male patient was referred to our clinic with complaints of diplopia and esotropia in his right eye that developed after a car accident. The patient had right esotropia in primary position and abduction of the right eye was totally limited. Primary deviation was over 40 prism diopters at near and distance. The patient was diagnosed with sixth nerve palsy and 18 months after trauma, he underwent right medial rectus muscle recession. Ten months after the first operation, full-thickness tendon transposition of the superior and inferior rectus muscles (with Foster suture) was performed...
January 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28180070/disrupted-functional-connectivity-of-striatal-sub-regions-in-bell-s-palsy-patients
#14
Wenwen Song, Zhijian Cao, Courtney Lang, Minhui Dai, Lihua Xuan, Kun Lv, Fangyuan Cui, Kristen Jorgenson, Maosheng Xu, Jian Kong
The striatum plays an important role in controlling motor function in humans, and its degeneration has the ability to cause severe motor disorders. More specifically, previous studies have demonstrated a disruption in the connectivity of the cortico-striatal loop in patients suffering from motor disorders caused by dopamine dysregulation, such as Parkinson's disease. However, little is known about striatal functional connectivity in patients with motor dysfunction not caused by dopamine dysregulation. In this study, we used early-state Bell's palsy (BP) patients (within 14 days of onset) to investigate how functional connectivity between the striatum and motor cortex is affected by peripheral nerve injury in which the dopamine system remains fully functional...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28178096/relative-location-of-fundus-meatus-acustici-interni-via-porus-acusticus-internus-in-facial-nerve-decompression
#15
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/28176604/c5-nerve-root-palsy-after-posterior-cervical-spine-surgery
#16
Fu-Min Pan, Shan-Jin Wang, Bin Ma, De-Sheng Wu
BACKGROUND: C5 palsy is a serious complication after cervical decompression surgery in which the patient shows a deterioration in power of the deltoid or biceps brachii by at least one grade in the manual muscle test without aggravation of lower extremity function. Although there are several hypotheses regarding the etiology of C5 palsy, the pathogenesis and preventive measures remain unidentified and many other controversies remain. OBJECTIVE: To systematically review the clinical features, risk factors, mechanism, and preventive measures of C5 palsy after posterior cervical decompression surgery...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28168888/cutaneous-sensibility-changes-in-bell-s-palsy-patients
#17
Carlos Andrés Cárdenas Palacio, Francisco Alejandro Múnera Galarza
Objective Bell's palsy is a cranial nerve VII dysfunction that renders the patient unable to control facial muscles from the affected side. Nevertheless, some patients have reported cutaneous changes in the paretic area. Therefore, cutaneous sensibility changes might be possible additional symptoms within the clinical presentation of this disorder. Accordingly, the aim of this research was to investigate the relationship between cutaneous sensibility and facial paralysis severity in these patients. Study Design Prospective longitudinal cohort study...
February 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28167627/teaching-neuroimages-rheumatoid-pannus-of-the-cervical-spine-an-unusual-cause-of-multiple-cranial-nerve-palsies
#18
Dinushi Weerasinghe, Dennis Cordato, Jeffrey Kuan, Allan Sturgess
No abstract text is available yet for this article.
February 7, 2017: Neurology
https://www.readbyqxmd.com/read/28166167/stepwise-percutaneous-leverage-technique-to-avoid-posterior-interosseous-nerve-injury-in-pediatric-radial-neck-fracture
#19
Wan-Sun Choi, Kyeong-Jin Han, Doo-Hyung Lee, Ga-Eun Lee, Heon-Ju Kweon, Jae-Ho Cho
OBJECTIVES: To introduce a stepwise percutaneous leverage technique to avoid posterior interosseous nerve (PIN) injury in pediatric patients with radial neck fractures and to evaluate the clinical outcome and the predisposing factors affecting the outcome. DESIGN: Retrospective case series study. SETTING: University level 1 trauma center. PATIENTS: Thirty-four children with a radial neck fracture, who were treated using a stepwise percutaneous leverage technique, were included in the study...
January 24, 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28165559/comparison-of-the-efficacy-of-surgical-clipping-and-embolization-for-oculomotor-nerve-palsy-due-to-a-posterior-communicating-artery-aneurysm
#20
G Gao, D-Q Gu, Y Zhang, J Yu, Y Chen, Y-J Chao, J-J Wei, X-M Fu, C-S Niu
OBJECTIVE: To aim at the efficacies of surgical clipping and endovascular embolization for oculomotor nerve palsy (ONP) as treatments for posterior communicating artery aneurysm (PcoAA), and the comparison and various influencing factors of the treatments. PATIENTS AND METHODS: An analysis of the clinical data of 52 enrolled PcoAA patients with ONP who had treatment in the Department of Neurosurgery in Anhui Provincial Hospital from January 2011 to June 2015 was conducted...
January 2017: European Review for Medical and Pharmacological Sciences
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