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https://www.readbyqxmd.com/read/29908450/cervical-sympathetic-chain-schwannoma-masquerading-as-a-vagus-nerve-schwannoma-complicated-by-postoperative-horner-s-syndrome-and-facial-pain-a-case-report
#1
Austin T Baker, Tyler J Homewood, Terry R Baker
INTRODUCTION: Cervical Sympathetic Chain Schwannomas (CSCS) of the carotid sheath are rare neoplasms that can be misdiagnosed on imaging. The following case documents a rare incident of a misdiagnosed CSCS with unusual outcomes of permanent Horner's syndrome and facial pain. PRESENTATION OF CASE: A 36-year-old female presented with a slow-growing neck mass. CT and MRI led to a preoperative diagnosis of vagus nerve schwannoma (VNS). However, surgical treatment revealed the mass to be involved with the cervical sympathetic chain rather than the vagus nerve...
June 9, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29908352/man1b-cdg-novel-variants-with-a-distinct-phenotype-and-review-of-literature
#2
Meena Balasubramanian, Diana S Johnson
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases due to impaired lipid and protein glycosylation. It comprises a characteristic high frequency of intellectual disability (ID) and a wide range of clinical phenotypes. OBJECTIVE: (s): To identify the underlying diagnosis in two families each with two siblings with variable level of ID through trio whole exome sequencing. METHODS: Both the families were recruited to the Deciphering Developmental Disorders (DDD) study to identify the aetiology for their ID...
June 13, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29908045/anatomical-variants-of-the-paranasal-sinuses-in-patients-with-mid-facial-segment-pain-our-experience-of-a-cohort-of-twenty-three-patients
#3
Dilesh Mogre, Gyorgy Banhegyi, Hoo Kee Tsan, Samuel C Leong
Facial pain is not an uncommon reason for referral to an otolaryngologist, frequently misdiagnosed as sinusitis by primary care professional. However, many of these 'sinus headache' patients do not have concomitant clinical symptoms suggestive of sinus infection such as purulent discharge or pyrexia [1]. Most actually suffer from non-sinugenic facial pain conditions such as atypical migraine or tension headache [2]. This article is protected by copyright. All rights reserved.
June 16, 2018: Clinical Otolaryngology
https://www.readbyqxmd.com/read/29907875/a-novel-homozygous-missense-mutation-in-the-sh3-binding-motif-of-stambp-causing-microcephaly-capillary-malformation-syndrome
#4
Ikumi Hori, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Naoki Ando, Keith A Boroevich, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
Microcephaly-capillary malformation syndrome is a congenital and neurodevelopmental disorder caused by biallelic mutations in the STAMBP gene. Here we identify the novel homozygous mutation located in the SH3 binding motif of STAMBP (NM_006463.4) (c.707C>T: p.Ser236Phe) through whole-exome sequencing. The case patient was a 2-year-old boy showing severe global developmental delay, progressive microcephaly, refractory seizures, dysmorphic facial features, and multiple capillary malformations. Immunoblot analysis of patient-derived lymphoblastoid cell lines (LCLs) revealed a severe reduction in STAMBP expression, indicating that Ser236Phe induces protein instability...
June 15, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29907796/a-recurrent-de-novo-missense-pathogenic-variant-in-smarcb1-causes-severe-intellectual-disability-and-choroid-plexus-hyperplasia-with-resultant-hydrocephalus
#5
Illja J Diets, Trine Prescott, Neena L Champaigne, Grazia M S Mancini, Bård Krossnes, Radek Frič, Kristina Kocsis, Marjolijn C J Jongmans, Tjitske Kleefstra
PURPOSE: SMARCB1 encodes a subunit of the SWI/SNF complex involved in chromatin remodeling. Pathogenic variants (PV) in this gene can give rise to three conditions. Heterozygous loss-of-function germline PV cause rhabdoid tumor predisposition syndrome and schwannomatosis. Missense PV and small in-frame deletions in exons 8 and 9 result in Coffin-Siris syndrome, which is characterized by intellectual disability (ID), coarse facial features, and fifth digit anomalies. METHODS: By a gene matching approach, individuals with a similar SMARCB1 PV were identified...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29907752/acceptability-of-placebo-multiparticulate-formulations-in-children-and-adults
#6
Felipe L Lopez, Punam Mistry, Hannah K Batchelor, Joanne Bennett, Alastair Coupe, Terry B Ernest, Mine Orlu, Catherine Tuleu
Patient acceptability is an important consideration in the design of medicines for children. The aim of this study was to investigate acceptability of multiparticulates in healthy children and adults. A randomised, single-blind acceptability testing was performed involving 71 children (4-12 years) and 61 adults (18-37 years). Each participant received three 500 mg samples of microcrystalline cellulose pellets administered on a medicine spoon with water at 5-10 minutes intervals. Acceptability was measured based on voluntary intake of the samples, facial expressions, ratings on hedonic scales and reported willingness to take multiparticulates everyday as a medicine...
June 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29907435/is-a-deep-subfascial-approach-better-than-the-subfascial-apporach-to-temporo-mandibular-joint-in-terms-of-facial-nerve-injury-and-quality-of-life
#7
Sanjay Rastogi, Ashish Sharma, Nandani Kumari, Rupshikha Choudhury, Siddhi Tripathi, Ankit Kumar, Pranshu Chauhan, Kaustuv Kumar Das
PURPOSE: The objective of the study was to compare the deep subfascial approach to subfascial approach in terms of facial nerve injury and quality of life. MATERIALS AND METHODS: A randomized study was performed from August 2013 to March 2017 on 24 patients with unilateral TMJ ankylosis. The subjects were randomly allotted to either Group I (12, Deep Subfascial) or Group II (12, Subfascial). All patients were evaluated objectively for facial nerve injury post-operatively and subjectively for quality of life in the form of a questionnaire post-operatively for 6 months...
April 20, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29907434/surgical-correction-of-the-midface-in-craniofacial-microsomia-part-1-a-systematic-review
#8
REVIEW
Lara S van de Lande, Britt I Pluijmers, Cornelia J J M Caron, Eppo B Wolvius, David J Dunaway, Maarten J Koudstaal, Bonnie L Padwa
INTRODUCTION: Mandibular reconstruction in craniofacial microsomia (CFM) has been described and reviewed at length although final results are not always (aesthetically) satisfactory due to maxillo-mandibular asymmetry, for which optimal correction techniques remain unclear. The aim of this systematic review is to provide an overview of the surgical options for maxillary correction in patients with unilateral CFM. MATERIAL AND METHODS: MEDLINE/Pubmed, Embase, Cochrane and Web of Science databases were searched up to April 15, 2017...
May 25, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29907429/comprehensive-approach-to-reestablishing-form-and-function-after-radical-parotidectomy
#9
Peter J Ciolek, Brandon L Prendes, Michael A Fritz
INTRODUCTION: The reconstructive goals following radical parotidectomy include restoration of symmetry, reanimation of the face, and reestablishment of oral competence. We present our experience utilizing the anterolateral thigh (ALT) free flap, orthodromic temporalis tendon transfer (OTTT), and facial nerve cable grafting to reestablish form and function. MATERIAL AND METHODS: From 2010 to 2016, 17 patients underwent radical parotidectomy followed by immediate reconstruction...
June 7, 2018: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/29907404/post-mortem-fungal-colonization-pattern-during-6-weeks-two-case-studies
#10
Simone Di Piazza, Mirca Zotti, Rosario Barranco, Grazia Cecchi, Giuseppe Greco, Francesco Ventura
The present study reports the mycological data collected from two corpses preserved in controlled conditions and monitored for 6 weeks at the mortuary. On the whole during the monitoring more than 70 fungal CFU (Colony Forming Units) were sampled from the corpses. The data collected were used to map the body fungal colonization of the corpses during 6 weeks. The two body maps show a huge difference between these cases, mainly due to the perimortem conditions. In particular, in the case one the facial area colonised by fungi rose from 15% to 63% in six weeks, while the fungal colonization of case two was about 1% for the whole monitoring period...
June 4, 2018: Forensic Science International
https://www.readbyqxmd.com/read/29907391/peri-oral-myoclonia-with-absences-with-multiple-facial-and-upper-body-myoclonia-overlap-epilepsy-syndrome
#11
Pratima Gulati, Puneet Jain, Hebah Qashqari, Laura Bradbury, Pamela Cooper, Hiroshi Otsubo, Robyn Whitney
A 17-years old girl presented with an 8-year history of absences with peri-oral twitching, eyelid twitching and head nodding, with poor response to anti-epileptic drugs. Video EEG revealed ictal and inter-ictal generalized spike wave discharges, and absences with peri-oral (predominant), eyelid, neck and shoulder myoclonia. There was also prominent eye closure sensitivity. Conundrums regarding epilepsy syndrome classification and pathophysiology are discussed.
June 12, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29907338/artificial-intelligence-in-radiation-oncology-a-specialty-wide-disruptive-transformation
#12
REVIEW
Reid F Thompson, Gilmer Valdes, Clifton D Fuller, Colin M Carpenter, Olivier Morin, Sanjay Aneja, William D Lindsay, Hugo J W L Aerts, Barbara Agrimson, Curtiland Deville, Seth A Rosenthal, James B Yu, Charles R Thomas
Artificial intelligence (AI) is emerging as a technology with the power to transform established industries, and with applications from automated manufacturing to advertising and facial recognition to fully autonomous transportation. Advances in each of these domains have led some to call AI the "fourth" industrial revolution [1]. In healthcare, AI is emerging as both a productive and disruptive force across many disciplines. This is perhaps most evident in Diagnostic Radiology and Pathology, specialties largely built around the processing and complex interpretation of medical images, where the role of AI is increasingly seen as both a boon and a threat...
June 12, 2018: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/29907265/soft-tissue-assessment-before-and-after-mandibular-advancement-or-setback-surgery-using-three-dimensional-images-systematic-review-and-meta-analysis
#13
REVIEW
C O Lisboa, M M Martins, A C O Ruellas, D M T P Ferreira, L C Maia, C T Mattos
The aim of this systematic review was to evaluate the effects of mandibular advancement or setback surgery on the facial soft tissue assessed using three-dimensional images. An electronic search was performed in the MEDLINE, Cochrane Library, Scopus, Virtual Health Library (VHL), Web of Science, and OpenGrey databases. Inclusion criteria comprised studies that evaluated the soft tissues of adult patients before and after mandibular advancement or setback surgery using computed tomography or magnetic resonance imaging...
June 12, 2018: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29907166/comparison-of-serial-blood-collection-by-facial-vein-and-retrobulbar-methods-in-c57bl-6-mice
#14
Jennifer R Frohlich, Christina N Alarcón, Camille R Toarmino, Anna K Sunseri, Tyler M Hockman
Many biomedical research protocols for mouse models involve serial blood collection and analysis. Two common techniquesfor serial blood collection in this species are the retrobulbar (RB, also called retroorbital) and facial vein (FV) methods. However, previous studies comparing these methods typically evaluated collection at a maximum of 2 time points. Here we compared hematologic values, adverse clinical effects, and histopathologic lesions in mice bled either once or serially (6 times) by using the FV or RB method...
June 15, 2018: Journal of the American Association for Laboratory Animal Science: JAALAS
https://www.readbyqxmd.com/read/29906651/quantifying-facial-expression-signal-and-intensity-use-during-development
#15
Helen Rodger, Junpeng Lao, Roberto Caldara
Behavioral studies investigating facial expression recognition during development have applied various methods to establish by which age emotional expressions can be recognized. Most commonly, these methods employ static images of expressions at their highest intensity (apex) or morphed expressions of different intensities, but they have not previously been compared. Our aim was to (a) quantify the intensity and signal use for recognition of six emotional expressions from early childhood to adulthood and (b) compare both measures and assess their functional relationship to better understand the use of different measures across development...
June 12, 2018: Journal of Experimental Child Psychology
https://www.readbyqxmd.com/read/29906314/gromwell-lithospermum-erythrorhizon-root-extract-protects-against-glycation-and-related-inflammatory-and-oxidative-stress-while-offering-uv-absorption-capability
#16
Kelly M Glynn, Penny Anderson, David J Fast, James Koedam, John F Rebhun, Rodney A Velliquette
Glycation and advanced glycation endproducts (AGE) damage skin which is compounded by AGE-induced oxidative stress and inflammation. Lip and facial skin could be susceptible to glycation damage as they are chronically stressed. As Gromwell (Lithospermum erythrorhizon) root (GR) has an extensive traditional medicine history that includes providing multiple skin benefits, our objective was to determine if GR extract and its base naphthoquinone, shikonin, might protect skin by inhibiting glycation, increasing oxidative defenses, suppressing inflammatory responses, and offering ultraviolet (UV) absorptive potential in lip and facial cosmetic matrices...
June 15, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29906000/do-looks-matter-the-role-of-the-electronic-residency-application-service-photograph-in-dermatology-residency-selection
#17
Ana Corcimaru, Mia C Morrell, Dean S Morrell
BACKGROUND: There is a lack of research on the impact of the Electronic Residency Application Service (ERAS) photograph on the residency selection process. OBJECTIVE: We sought to elucidate the role of the ERAS photograph in the dermatology residency selection outcome and to determine if photographs submitted by matched applicants differ from those of unmatched applicants. METHODS: We analyzed ERAS photographs submitted by dermatology residency applicants based on photograph characteristics related to composition, attire, facial expression, hairstyle, and accessories...
April 15, 2018: Dermatology Online Journal
https://www.readbyqxmd.com/read/29905790/characterization-of-the-tissue-and-stromal-cell-components-of-micro-superficial-enhanced-fluid-fat-injection-micro-seffi-for-facial-aging-treatment
#18
Martina Rossi, Barbara Roda, Silvia Zia, Ilaria Vigliotta, Chiara Zannini, Francesco Alviano, Laura Bonsi, Andrea Zattoni, Pierluigi Reschiglian, Alessandro Gennai
Background: New microfat preparations provide material suitable for use as a regenerative filler for different facial areas. To support the development of new robust techniques for regenerative purposes, the cellular content of the sample should be considered. Objectives: To evaluate the stromal vascular fraction (SVF) cell components of micro-superficial enhanced fluid fat injection (SEFFI) samples via a technique to harvest re-injectable tissue with minimum manipulation...
June 14, 2018: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/29905649/multivariate-pattern-classification-of-brain-white-matter-connectivity-predicts-classic-trigeminal-neuralgia
#19
Jidan Zhong, David Qixiang Chen, Peter S P Hung, Dave J Hayes, Kevin E Liang, Karen D Davis, Mojgan Hodaie
Trigeminal neuralgia (TN) is a severe form of chronic facial neuropathic pain. Increasing interest in the neuroimaging of pain has highlighted changes in the root entry zone in TN, but also group level CNS grey and white matter abnormalities. Group differences in neuroimaging data are frequently evaluated with univariate statistics, however this approach is limited because it is based on single, or clusters of, voxels. In contrast, multivariate pattern analyses consider all the model's neuroanatomical features to capture a specific distributed spatial pattern...
June 13, 2018: Pain
https://www.readbyqxmd.com/read/29905388/chronological-observation-of-surgically-treated-granuloma-faciale-implies-the-necessity-of-circumspect-management-for-perinasal-nodular-subset
#20
Yurie Shimoda-Komatsu, Misaki Kinoshita-Ise, Hiroaki Shimoyamada, Manabu Ohyama
Granuloma faciale (GF) is a rare chronic dermatosis with still unknown etiopathology, which usually presents a solitary, asymptomatic, smooth reddish-brown to violaceous plaques or nodules on the face. Various therapeutic approaches, including topical application of corticosteroid or tacrolimus and removal with laser, cryotherapy and surgery have been attempted; however, the outcome has been inconsistent. Herein, we report a case of perinasal nodular GF who repeatedly underwent surgical excisions after the failure of laser treatment...
June 15, 2018: Journal of Dermatology
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