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https://www.readbyqxmd.com/read/29157190/mucopolysaccharidosis-type-vi-in-a-great-dane-caused-by-a-nonsense-mutation-in-the-arsb-gene
#1
Ping Wang, Carol Margolis, Gloria Lin, Elizabeth L Buza, Scott Quick, Karthik Raj, Rachel Han, Urs Giger
Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans. Lysosomal glycosaminoglycan accumulation results in cell and organ dysfunction. This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clinical signs of stunted growth, facial dysmorphia, skeletal deformities, corneal opacities, and increased respiratory sounds. Clinical and pathologic evaluations, urine glycosaminoglycan analyses, lysosomal enzyme assays, and ARSB sequencing were performed...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/29151089/capgras-syndrome-and-other-delusional-misidentification-syndromes
#2
Alain Barrelle, J-P Luauté
The delusional misidentification syndromes (DMS) are a group of disorders, characterized by patients mistaking the identity of people they know, although they recognize them physically. The term DMS is an umbrella term which may cover disorders whose definition extends to objects other than people, such as animals, places, or familiar material objects. The most common and best known DMS is Capgras syndrome. In this disorder, the misidentification leads to the delusional conviction that a close friend or relative has been replaced by an identical - or almost identical - "double," whose original has disappeared...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29139363/cryosurgery-for-facial-and-scalp-lesions-of-basal-cell-carcinoma-a-study-in-29-elderly-patients
#3
Satish Savant, Sandeep Savant, Virendra N Sehgal
Basal cell carcinoma (BCC) is one of the pre-eminent tumors of the epidermis, recognized by explicit clinical-pathologic characteristics. It is relatively uncommon in South Asia including India and is amenable to a variety of modalities, including cryosurgery. The outcome of cryosurgery was evaluated in 18 men and 11 women, aged 58 to 83 years, who were treated with two freeze-thaw cycles of liquid nitrogen under local anesthesia, after requisite preparations. Of the 29 patients, 27 had complete clearance of the lesions in the course of 3 years of follow-up, while only 2 had a recurrence, one at 17 months and one at 23 months...
2017: Skinmed
https://www.readbyqxmd.com/read/29136515/associations-between-feelings-of-social-anxiety-and-emotion-perception
#4
Spencer K Lynn, Eric Bui, Susanne S Hoeppner, Emily B O'Day, Sophie A Palitz, Lisa Feldman Barrett, Naomi M Simon
BACKGROUND: Abnormally biased perceptual judgment is a feature of many psychiatric disorders. Thus, individuals with social anxiety disorder are biased to recall or interpret social events negatively. Cognitive behavioral therapy addresses such bias by teaching patients, via verbal instruction, to become aware of and change pathological misjudgment. The present study examined whether targeting verbal instruction to specific decision parameters that influence perceptual judgment may affect changes in anger perception...
October 4, 2017: Journal of Behavior Therapy and Experimental Psychiatry
https://www.readbyqxmd.com/read/29134953/incidental-finding-of-upper-lip-warthin-tumor
#5
Marzia Petrocelli, Carolina Sbordone, Giovanni Salzano, Giovanni Dell'Aversana Orabona, Francesco Maria Cassandro, Stefano Fusetti, Luigi Califano, Ettore Cassandro
AIM: This report shows an incidental finding of Warthin tumor in upper lip mucosa during hospitalization for a biting lesion of cheek mucosa MATERIALS AND METHODS: A 32-year-old male affected by a biting lesion of cheek mucosa was presented at Maxillo- Facial Unit of Federico II University. Clinical examination showed as an incidental finding a solid mass in the superficial layer of upper lip mucosa. We performed mini-invasive surgical treatment to obtain a radical excision of the cheek lesion at the same time as excision of Warthin tumor...
November 14, 2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/29125402/adolescent-internal-condylar-resorption-aicr-of-the-temporomandibular-joint-part-1-a-review-for-diagnosis-and-treatment-considerations
#6
Larry M Wolford, Aluisio Galiano
Background Adolescent internal condylar resorption (AICR) is a temporomandibular joint (TMJ) pathology that develops predominately in teenage females during pubertal growth (onset between ages 11 and 15 years), with a distinct clinical, radiographic, and magnetic resonance imaging (MRI) presentation. Clinical and imaging presentation The condition usually occurs bilaterally with: (1) Progressive retrusion of the mandible; (2) High occlusal plane angle facial morphology; (3) Worsening Class II occlusion; and (4) TMJ symptoms such as pain, headaches, noises, etc...
November 10, 2017: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/29123992/prevalence-of-oral-tori-and-exostosis-in-malaysian-population-a-cross-sectional-study
#7
Ashish Kumar Singh, Srinivas Sulugodu Ramachandra, Shelly Arora, Daniel Devaprakash Dicksit, C G Kalyan, Priyanshi Singh
Introduction: Oral tori and exostosis are non-pathological bony protuberances seen on the alveolar surfaces of the jaw bones. These are commonly seen on the palatal surfaces of the maxilla [torus palatinus (TP)] and around the premolars in the lingual surface of the mandible [torus mandibularis (TM)]. The aim of this cross-sectional study was to determine the prevalence of tori/exostosis in the Malaysian population. Methodology: A total of 2666 patients were examined for the presence of tori and exostosis in the maxilla and mandible and were categorized into TP, TM, and exostosis (facial/labial)...
September 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/29122412/determining-the-role-of-nasolaryngoscopy-in-the-initial-evaluation-for-upper-airway-injury-in-patients-with-facial-burns
#8
Daniel Freno, James Sahawneh, Sarah Harrison, Tim Sahawneh, Scott Patterson, Steven A Kahn
BACKGROUND: Upper airway injuries can be fatal in burn patients if not recognized, a scenario that causes a significant amount of anxiety for physicians providing initial assessment of burn patients. Early elective intubation is often performed; sometimes unnecessarily. However, some providers employ nasolaryngoscopy for patients presenting with facial burns or signs/symptoms of upper airway injury in order to assess the need for intubation, but this practice is not considered standard of care and may also be unnecessary...
November 6, 2017: Burns: Journal of the International Society for Burn Injuries
https://www.readbyqxmd.com/read/29121272/chronic-cigarette-smoking-associates-directly-and-indirectly-with-self-reported-olfactory-alterations-analysis-of-the-2011-2014-national-health-and-nutrition-examination-survey-nhanes
#9
Sarah-Grace Glennon, Tania Huedo-Medina, Shristi Rawal, Howard J Hoffman, Mark D Litt, Valerie B Duffy
Introduction: Population-based studies show inconsistent effects of cigarette smoking on olfactory function. We aimed to identify direct and indirect associations between measures of smoking exposure/nicotine dependence and altered olfaction in a nationally-representative sample of adults. Methods: NHANES 2011-2014 (n=7,418) participants (mean age=57.8±12.2 years) self-reported olfaction and related health and demographic risks. Affirmative answers to three questions defined altered olfaction (olfactory problems in past year; worse ability since age 25; phantom smells)...
November 7, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/29105895/a-dimensional-approach-to-determine-common-and-specific-neurofunctional-markers-for-depression-and-social-anxiety-during-emotional-face-processing
#10
Lizhu Luo, Benjamin Becker, Xiaoxiao Zheng, Zhiying Zhao, Xiaolei Xu, Feng Zhou, Jiaojian Wang, Juan Kou, Jing Dai, Keith M Kendrick
Major depression disorder (MDD) and anxiety disorder are both prevalent and debilitating. High rates of comorbidity between MDD and social anxiety disorder (SAD) suggest common pathological pathways, including aberrant neural processing of interpersonal signals. In patient populations, the determination of common and distinct neurofunctional markers of MDD and SAD is often hampered by confounding factors, such as generally elevated anxiety levels and disorder-specific brain structural alterations. This study employed a dimensional disorder approach to map neurofunctional markers associated with levels of depression and social anxiety symptoms in a cohort of 91 healthy subjects using an emotional face processing paradigm...
November 6, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/29101992/acr-appropriateness-criteria-%C3%A2-sinonasal-disease
#11
Claudia F E Kirsch, Julie Bykowski, Joseph M Aulino, Kevin L Berger, Asim F Choudhri, David B Conley, Michael D Luttrull, Diego Nunez, Lubdha M Shah, Aseem Sharma, Vilaas S Shetty, Rathan M Subramaniam, Sophia C Symko, Rebecca S Cornelius
Imaging of sinonasal pathology may occur for assessment of rhinosinusitis or mass lesions. Rhinosinusitis is prevalent in up to 16% of the US population with annual economic burdens estimated at 22 billion dollars. Rhinosinusitis is characterized as acute or chronic based on symptom duration; if four or more episodes occur annually, the term recurrent acute rhinosinusitis (RARS) is used. In acute uncomplicated rhinosinusitis when inflammatory change remains in the paranasal sinuses and nasal cavity, imaging may not be required...
November 2017: Journal of the American College of Radiology: JACR
https://www.readbyqxmd.com/read/29100093/de-novo-mutations-in-slc25a24-cause-a-craniosynostosis-syndrome-with-hypertrichosis-progeroid-appearance-and-mitochondrial-dysfunction
#12
Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A Bacino, Penelope E Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak
Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29099368/detection-of-an-unusual-inverted-schneiderian-papilloma-by-cone-beam-computed-tomography
#13
Rafael Binato Junqueira, Vinícius Dilly Almeida, Gustavo Brandão Grossi, Jamilly Aparecido Sperandio, Lays Kelmer Costa, Francielle Silvestre Verner
An inverted schneiderian papilloma (ISP) is a rare neoplasm that affects the nasal cavity or a paranasal sinus, especially the maxillary sinus. Although histologically benign, the lesion has a high potential for local destruction, has a high recurrence rate, and presents the possibility of malignant transformation into squamous cell carcinoma. To determine the extent of the injury and possible impairment of adjacent maxillofacial structures, accurate imaging, such as cone beam computed tomography (CBCT), is necessary...
November 2017: General Dentistry
https://www.readbyqxmd.com/read/29098570/intracranial-melanotic-schwannomas-a-rare-variant-with-unusual-adherent-features
#14
D Mahato, T Vivas-Buitrago, K Gassie, M Jentoft, D Tavanaiepour, A Quiñones-Hinojosa
Intracranial melanotic schwannomas (IMSch) are extremely rare nerve sheath tumors with features of Schwann cells that produce melanin. After a thorough review of the available literature since 1967, we report not only the 20th case of IMSch but a comprehensive modern-era analysis of radiographic and histological key-points to be considered when diagnosing and treating patients with this rare known entity. This is the case of a 43 years-old woman who presented with severe headaches 9 years ago (2008). At that time, MRI of the brain showed a 1...
November 2, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29097033/-the-tumors-of-the-ear
#15
X Dubernard, J-C Kleiber, E Brenet, M-A Louges, Y Veleine, M Labrousse, M Makeieff, A Bazin, A Chays
Any cutaneous lesion of the outer ear must be managed jointly by a dermatologist and an ENT, regardless of the age of the patient. The presence of a malignant cutaneous carcinoma (Squamous cell carcinoma or melanoma) of the pavilion requires a minimum extension assessment by a cervical ultrasound, CT-scan and MRI will be prescribed according to the degree of infiltration and the presence of clinics signs (lymphadenopathy, facial paralysis, cognitive impairment). A polyp of the external auditory meatus must be systematically biopsied in consultation and, if necessary, in the operating room with fresh anatomopathological analysis...
October 30, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29094077/quantitative-facial-electromyography-monitoring-after-hypoglossal-facial-jump-nerve-suture
#16
Jan Flasar, Gerd Fabian Volk, Thordis Granitzka, Katharina Geißler, Andrey Irintchev, Thomas Lehmann, Orlando Guntinas-Lichius
Objectives/Hypothesis: The time course of the reinnervation of the paralyzed face after hypoglossal-facial jump nerve suture using electromyography (EMG) was assessed. The relation to the clinical outcome was analyzed. Study Design: Retrospective single-center cohort study. Methods: Reestablishment of motor units was studied by quantitative EMG and motor unit potential (MUP) analysis in 11 patients after hypoglossal-facial jump nerve suture...
October 2017: Laryngoscope Investigative Otolaryngology
https://www.readbyqxmd.com/read/29091380/real-world-efficacy-of-azelaic-acid-15-gel-for-the-reduction-of-inflammatory-lesions-of-rosacea
#17
P J Wirth, M H Henderson Berg, N Sadick
Approximately 16 million Americans have rosacea, an inflammatory cutaneous disorder with central facial erythema, papules, pustules, telangiectasia, flushing, and swelling being among the more commonly recognized features. Overexpression of cathelicidin peptide LL-37 has been implicated in the pathophysiology of rosacea. Azelaic acid has been found to inhibit the pathologic expression of cathelicidin, as well as the hyperactive protease activity that cleaves cathelicidin into LL-37. Given these findings, a small prospective, open-label, interventional trial was undertaken to assess the effects of azelaic acid 15% gel on inflammatory lesions of papulopustular rosacea in a real-world setting...
November 2017: Skin Therapy Letter
https://www.readbyqxmd.com/read/29072188/body-dysmorphic-disorder-latest-neuroanatomical-and-neuropsychological-findings
#18
K Tasios, I Michopoulos
Body dysmorphic disorder (BDD) is characterized by a preoccupation with a perceived defect or flaw in physical appearance that is not observable or appears slight to others. It leads to severe distress and functional impairment. Cognitive-behavioural and neurobiological similarities to obsessive compulsive disorder (OCD) have led to its newly conceived classification as an obsessive compulsive related disorder (OCRD). In the process of investigating the neurobiology of BDD, neuroimaging and neuropsychological studies have been conducted...
July 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/29065902/treatment-of-orofacial-granulomatosis-a-case-report
#19
Maaz B Badshah, Saqib Walayat, Umair Ahmed, Sonu Dhillon, Sherri Yong, Sunanda Kane, Shoba Thievanayagam
BACKGROUND: Orofacial granulomatosis is a relatively recent term coined by Wiesenfield et al. in 1985 to define granulomatous lesions of oral mucosa without intestinal involvement. When it presents in a triad encompassing facial nerve palsy, lip swelling, and fissured or furrowed tongue it is called Melkersson-Rosenthal syndrome while monosymptomatic or oligosymptomatic forms are referred to as granulomatous cheilitis. It is an uncommon clinicopathologic entity which is distinct from classic Crohn's disease...
October 25, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29059942/characterization-of-dental-pathologies-using-digital-panoramic-x-ray-images-based-on-texture-analysis
#20
Divya K Veena, Anand Jatti, Revan Joshi, Krishna S Deepu
Dental caries and the cysts of jaws are frequently occurring pathologies encountered in a dental practice. Imaging of these dental anomalies is done with radiographic examination. Panoramic radiography/ Orthopantomography (OPG) is a common modality to screen patients with an advantage of ease of imaging and reduced exposure to patients. The panoramic images obtained with this equipment are exploited by noise embedded during its acquisition making the detection of this dental caries difficult. Detection and characterization of dental caries and various other maxilla-facial pathologies can be achieved by the application of computer aided image processing algorithms applied on dental panoramic images...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
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