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https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#1
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28077839/atypical-trigeminal-neuralgia-a-rare-neurological-manifestation-of-systemic-lupus-erythematosus
#2
Viki Kumar, Jaspinder Kaur, Pallavi Pothuri, Sahiba Bandagi
BACKGROUND Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder of unknown etiology which can present at any age with symptoms of mucocutaneous, musculoskeletal, renal, central nervous system, and nonspecific clinical pictures making the disease a "master of mimicry". CASE REPORT A 53-year-old female, who was recently diagnosed with SLE, presented with right-sided sharp and electric shock-like facial pain starting at the side of her right nostril and traveling down the naso-labial fold and then back to the angle of the jaw, mostly in the region of V2-V3 distribution with no radiation beyond trigeminal distribution...
January 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28073285/muscle-nerve-muscle-grafting-for-facial-reanimation-in-rats
#3
Steven J Charous, Jeffery M Hotaling, Bridget D Burgess, Joshua M Sappington, James Park, Grant Turek, Eileen M Foecking
OBJECTIVE: Facial paralysis is a devastating condition leaving patients with a myriad of aesthetic and functional consequences. Muscle-nerve-muscle (MNM) neurotization is a reinnervation technique that involves implanting an autogenous nerve graft as a conduit between an innervated "donor" muscle and a denervated "recipient" muscle. We investigated the use of MNM reinnervation, alone or in combination with electrical stimulation (ES) and testosterone propionate (TP) in comparison to nerve reanastomosis (RE), on functional recovery following rat facial nerve injury...
January 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28067972/single-innervated-segmented-vastus-lateralis-for-midfacial-reanimation-during-radical-parotidectomy
#4
Lauren Sh Chong, Timothy J Eviston, Bruce Ashford, Ardalan Ebrahami, Jonathan R Clark
BACKGROUND: Innervated free muscle transfer using the gracilis muscle or temporalis myoplasty has been successfully utilized for facial reanimation in chronic facial palsy. These techniques are less suited to immediate facial reconstruction in the setting of radical parotidectomy, in which the complexity of the defect, patient age, postoperative radiotherapy, and limited life expectancy pose particular challenges. METHODS: We present a novel description of the use of a chimeric anterolateral thigh (ALT) flap and innervated vastus lateralis to achieve midface static suspension and dynamic reanimation in the setting of radical parotidectomy...
January 9, 2017: Head & Neck
https://www.readbyqxmd.com/read/28058213/face-transplantation-anesthetic-challenges
#5
REVIEW
Aparna Dalal
Face transplantation is a complex vascular composite allotransplantation (VCA) surgery. It involves multiple types of tissue, such as bone, muscles, blood vessels, nerves to be transferred from the donor to the recipient as one unit. VCAs were added to the definition of organs covered by the Organ Procurement and Transplantation Network Final Rule and National Organ Transplant Act. Prior to harvest of the face from the donor, a tracheostomy is usually performed. The osteotomies and dissection of the midface bony skeleton may involve severe hemorrhagic blood loss often requiring transfusion of blood products...
December 24, 2016: World Journal of Transplantation
https://www.readbyqxmd.com/read/28056872/a-limb-girdle-myopathy-phenotype-of-runx2-mutation-in-a-patient-with-cleidocranial-dysplasia-a-case-study-and-literature-review
#6
Sung-Ju Hsueh, Ni-Chung Lee, Shu-Hua Yang, Han-I Lin, Chin-Hsien Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies have investigated RUNX2 mutation effects on non-skeletal systems. Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene...
January 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28050326/use-of-botulinum-neurotoxin-in-ophthalmology
#7
REVIEW
Emel Başar, Ceyhun Arıcı
Botulinum neurotoxin (BoNT) is the first biological toxin used in the treatment of ophthalmic diseases and to decrease skin wrinkles as an aesthetic agent. When used appropriately, it weakens the force of muscular contraction and/or inhibits glandular secretion. The most common areas for botulinum toxin treatment are the upper face, including the glabella, forehead, brows, and lateral canthal lines, or crow's feet. By relaxing the muscles causing wrinkles, non-permanent results may be achieved with its use...
December 2016: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28045852/overview-on-criteria-for-mep-monitoring
#8
David B MacDonald
Intraoperative motor evoked potentials include the D-wave as a surrogate for long-term motor outcome and muscle motor evoked potentials as a surrogate for early outcome. Their efficacy depends on excluding confounding factors and on warning criteria; insufficiently sensitive criteria could result in unpredicted deficits, whereas excessively sensitive ones could cause false alarms deterring surgical treatment and jading surgeons to alerts, eventually leading to deficits through failure to intervene. Although D-waves have few indications, they are nonsynaptic, linear, and stable-properties that support amplitude reduction criteria: >50% for intramedullary spinal cord tumor surgery and >30% to 40% for peri-Rolandic brain surgery...
January 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28040808/periocular-fillers-and-related-anatomy
#9
Julie A Woodward
Aging of the periocular area involves changes of the skin, muscle, fat, and bones. Facial fillers can be helpful in minimizing these changes by restoring youthful fullness to periocular areas that have undergone volume loss or loss of support. Physicians should understand the complicated anatomy surrounding the eyes, both to understand the aging process and to minimize treatment complications.
November 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28038736/-bone-cement-implant-as-an-alternative-for-orbital-floor-reconstruction-a-case-report
#10
Enrique Vargas-Solalinde, Marisol E Huichapa-Padilla, Daniel Garza-Cantú, Víctor H Reyna-Martínez, Julio Alatorre-Ricardo, Juan Luis González-Treviño
BACKGROUND: The management of orbitary fractures is one of the most challenging in facial trauma; the variety of reconstruction materials for its treatment is broad and is constantly improving, but despite this there is no consensus for its use or literature that sustains it. OBJECTIVE: To present the use and design of a preformed bone implant as an alternative for the reconstruction of orbital floor fractures in the pediatric age group. CLINICAL CASE: A 7-year old male who suffered a right hemifacial contusion trauma with clinical and tomographic diagnosis of right pure blowout type orbital floor fracture with inferior rectus muscle entrapment and right post-traumatic palpebral ptosis...
December 27, 2016: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/28038480/intracranial-ameloblastoma-arising-from-the-maxilla-an-interdisciplinary-surgical-approach
#11
Johanna Quick-Weller, Felix Koch, Nazife Dinc, Stephanie Lescher, Peter Baumgarten, Patrick Harter, Friedrich Scheerer, Robert Sader, Volker Seifert, Gerhard Marquardt, Thomas Freiman
Background Ameloblastomas are a rare tumor entity accounting for only 10% of all odontogenic tumors. They mostly originate from the mandible. Only a few cases are known to grow aggressively and to invade the orbit, nasal cavity, or even the brain. Patient and Methods/Case Report We present the case of a 57-year-old patient who was admitted with a huge tumor involving the nasal cavity, the left maxilla, and the anterior fossa. Histologic diagnosis was made by biopsy. A combined two-stage neurosurgical maxillofacial approach was planned...
December 30, 2016: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/28033633/rhytidoplasty-smas-imbrication-vector-comparison
#12
Fernando Pedroza, Luis Fernando Pedroza, Daniel Correal Gentry, Juan Guillermo Erazo Cordoba, Guillermo Arturo Landinez Cepeda
To determine if there are aesthetic differences in patients who have undergone a SMAS lifting with predominantly oblique-horizontal vectors versus predominantly oblique-vertical vectors. To determine if there are aesthetic differences in the results of the neck using sutures placed in specific areas of the platysmal muscle versus randomly placed sutures for platysmal plication to the mastoid. Comparative, retrospective, blind, and randomized study. Evaluation of preoperative and postoperative photographs of 54 patients who underwent predominantly oblique-horizontal SMAS lifting versus 53 patients who underwent predominantly oblique-vertical traction of the SMAS flap, reviewed by three external, unbiased facial plastic surgeons in a blind study...
December 2016: Facial Plastic Surgery: FPS
https://www.readbyqxmd.com/read/28027998/an-optimized-abnormal-muscle-response-recording-method-for-intraoperative-monitoring-of-hemifacial-spasm-and-its-long-term-prognostic-value
#13
Chuyi Huang, Suhua Miao, Heling Chu, Chuanfu Dai, Jinting Wu, Junhua Wang, Huancong Zuo, Yu Ma
BACKGROUND: Intraoperative electrophysiological monitoring is used to determine whether decompression is sufficient during microvascular decompression (MVD) for hemifacial spasm (HFS). However, the real offending vessel is sometimes neglected by the neurosurgeons. Here, we reported our experience in using optimized abnormal muscle response (AMR) monitoring and continuous intraoperative monitoring for MVD. METHODS: This study included 2161 HFS patients who underwent MVD using traditional (1023 patients) and optimized (1138 patients) methods...
December 25, 2016: International Journal of Surgery
https://www.readbyqxmd.com/read/28027174/anatomy-of-the-platysma-muscle
#14
Kun Hwang, Ji Yeon Kim, Jae Hyun Lim
The aim of this paper was to review the anatomy the platysma systematically.The term "platysma AND anatomy" was used to search PubMed and Scopus, producing 394 and 214 papers, respectively. After excluding 95 duplicate titles, 513 abstracts and 98 full papers were reviewed. Among these 98 papers, 83 were excluded and 5 were added. Ultimately, 20 papers were analyzed.The most common aging-related change of the platysma was shortening (70.7%), followed by thinning (25.2%). The platysma most commonly originated from the upper portion of thorax anterior to clavicle (67...
December 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28024840/intrafamilial-phenotypic-variability-in-andersen-tawil-syndrome-a-diagnostic-challenge-in-a-potentially-treatable-condition
#15
A Ardissone, V Sansone, L Colleoni, P Bernasconi, I Moroni
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant channelopathy characterized by periodic paralysis, cardiac dysrhythmias, and distinct facial and skeletal characteristics, that may be variably present in the affected members. Mutations in the KCNJ2 and KCNJ5 gene have been associated with this disorder. We describe a family in which several members presented with different ATS phenotypes. The proband, a 4-year-old boy, presented with recurrent episodes of muscle weakness from an early age; two siblings suffered cardiac arrhythmia but had never experienced episodes of paralysis; their mother reported occasional muscle pain after exercise and unspecified cardiac arrhythmias...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28017205/meige-s-syndrome-history-epidemiology-clinical-features-pathogenesis-and-treatment
#16
REVIEW
Sanjay Pandey, Soumya Sharma
'Meige's syndrome' is a type of cranial dystonia characterized by blepharospasm and oromandibular dystonia and can be associated with complex movement of lower facial muscles, mouth, jaw, tongue, pharyngeal and cervical muscles. Frequently, blepharospasm is the earliest clinical manifestation, which spreads over a period of time to involve other cranial and extra-cranial muscles. Common characteristics of this syndrome are well known, but their variety is wide. Different eponyms such as "Breughel syndrome", "Wood syndrome", "Blepharospasm plus", "Segmental cranial dystonia" and "Segmental cranio-cervical dystonia" have been used to describe this entity with numerous anatomical variations...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28005772/correction-of-residual-static-and-dynamic-labial-deviations-in-a-paralyzed-face-after-free-gracilis-muscle-transplantation
#17
Ricardo Horta, Inês Correia-Sá, Ricardo Nascimento, Alvaro Silva, José Amarante
Free muscle flap transfer is currently the procedure of choice for longstanding facial paralysis to restore symmetry both at rest and when smiling. However, movements obtained are generally localized, unidirectional, and philtrum centralization and lower lip movement is not proportionally achieved. The stability of free flap insertion at the lips also interferes with the results, as gradual disinsertion and shifting of the nasolabial fold can be caused by repetitive movements. Asymmetry of smile can also be caused by lip depressor inactivity due to marginal mandibular paralysis, and both dynamic and static procedures are often required after dynamic reanimation...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005765/functional-reconstruction-in-mandibular-avulsion-injuries
#18
Yoav Leiser, Dekel Shilo, Amir Wolff, Adi Rachmiel
The present report describes the planning and surgery as well as pitfalls and management of a patient with a near total mandibular avulsion injury that was rehabilitated using three-dimensional (3D) laser printing of a titanium lower jaw. Laser-sintering involves zapping layers of powdered metal to recreate a 3D implantable skeletal defect. The process involves using either mirror imaging of the unaffected side or using archival image database of healthy individuals. A 25-year-old man presented with a gunshot injury that left him with a near total avulsed mandible...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005753/motor-nerve-preservation-and-muscle-atrophy-after-pectoralis-major-musculocutaneous-flap-surgery-for-oromandibular-reconstruction
#19
Yu Takayama, Satoshi Yokoo, Takaya Makiguchi, Takahide Komori
OBJECTIVE: The authors investigated the clinical and histopathologic significance of medial pectoral nerve preservation/reinnervation of pectoralis major musculocutaneous flap for oromandibular reconstruction. MATERIALS AND METHODS: The authors compared 13 patients treated with pectoralis major musculocutaneous flap reconstruction and 6 control patients treated by rectus abdominis musculocutaneous flap reconstruction without motor nerve restoration. Subjective awareness was scored to evaluate changes in the facial contour due to muscle atrophy, and objective evaluation was performed in few patients...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005653/anatomy-of-the-corrugator-muscle
#20
Kun Hwang, Jung Hun Lee, Hee Joong Lim
The aim of this article is to systematically review the anatomy and action of the corrugator muscle. PubMed and Scopus were searched using the terms "corrugator" AND "anatomy." Among the 60 full texts from the 145 relevant abstracts, 34 articles without sufficient content were excluded and 4 articles drawn from the reference lists were added. Among the 30 articles analyzed (721 hemifaces), 28% classified by oblique head and transverse head, and 72% did not. Corrugator originated mostly from the medial supraorbital rim (45%), followed by the medial frontal bone (31%), the medial infraorbital rim (17%), and the upper nasal process (7%)...
December 21, 2016: Journal of Craniofacial Surgery
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