• Title/Summary/Keyword: facial features

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A neonate with Say-Barber-Biesecker-Young-Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report

  • Shin, Ji Hye;Lim, Han Hyuk;Gang, Mi Hyeon;Kim, Seon Young;Yang, Shin-seung;Chang, Mea-young
    • Journal of Genetic Medicine
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    • v.18 no.2
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    • pp.147-151
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    • 2021
  • The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.

Intramuscular epidermal cyst in the masticator space: a case report

  • Sang Woo Han;Jiye Kim;Sug Won Kim;Minseob Eom;Chae Eun Yang
    • Archives of Craniofacial Surgery
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    • v.24 no.4
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    • pp.193-197
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    • 2023
  • An epidermal cyst, also known as an epidermoid cyst or epidermal inclusion cyst, is the most prevalent type of cutaneous cyst. This non-cancerous lesion can appear anywhere on the body, typically presenting as an asymptomatic dermal nodule with a visible central punctum. In the case presented herein, an epidermal cyst with uncommon features was misdiagnosed as a lymphatic malformation based on preoperative magnetic resonance imaging (MRI). A 61-year-old man came to us with a swollen left cheek that had been present for 11 months. The preoperative MRI revealed a 3×3.8×4.6 cm lobulated cystic lesion with thin rim enhancement in the left masticator space. The initial differential diagnosis pointed toward a lymphatic malformation. We proceeded with surgical excision of the lesion via an intraoral approach, and the specimen was sent to the pathology department. The pathological diagnosis revealed a ruptured epidermal cyst, indicating that the initial diagnosis of a lymphatic malformation based on preoperative MRI was incorrect. Epidermal cysts located under the muscle with no visible central punctum are uncommon, but should be considered if a patient presents with facial swelling.

A Study on the Syntagma & Paradigm by Repetition, Variation and Contrast in Ads

  • Choi, Seong-hoon
    • Asia-pacific Journal of Multimedia Services Convergent with Art, Humanities, and Sociology
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    • v.7 no.9
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    • pp.1-12
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    • 2017
  • This study is the academic work to explore the potential meanings of print advertisements. Linguistic features such as repetition, variation, contrast and phonological structure in the verbal texts of ads can give rise to shades-of-meaning or slight variations in advertising. The language of advertising is not only language in words. It is also a language in images, colors, and pictures. Pictures and words combine to form the advertisement's visual text.. While the words are very important in delivering the sales message, the visual text cannot be ignored in advertisements. Forming part of the visual text is the paralanguage of the ad. Paralanguage is the meaningful behaviour accompanying language, such as voice quality, gestures, facial expressions and touch in speech, and choice of typeface and letter sizes in writing. Foregrounding is the throwing into relief of the linguistic sign against the background of the norms of ordinary language. This paper focuses its discussion on the advertisements within the framework of the paradigmatic and the syntagmatic relationship. The sources of ads have been confined to Malboro. The ads were reselected based on purposive sampling methods.

Ovalbumin Induces Atopic Dermatitis-like Skin Lesions in Different Species of mice: pilot study (Ovalbumin으로 유도한 아토피성 피부염의 마우스 종별 차이에 관한 예비연구)

  • Tae-Young Gil;Bo-Ram Jin;Hyo-Jin An
    • Journal of Convergence Korean Medicine
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    • v.2 no.1
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    • pp.13-22
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    • 2021
  • Objectives: Atopic dermatitis (AD) is an easily recurrent inflammatory skin disease. Since AD has complex pathology, people have been investigating it on different aspects with various experimental models. One of them is in vivo model which has spontaneously developed AD-like skin lesions by various inducers. Methods: In this study, two kinds of mouse species were applied in the experiment; BALB/c and C57BL/6 mice. We compared features among the animal species making AD mouse model with protein allergen, ovalbumin. AD-like skin lesions were induced by ovalbumin on two kinds of scheme and were evaluated with the histological results and size of spleen which is a critical immunological organ. Also, we measured the level of immunoglobulin E in serum. In addition, we investigated the results of ovalbumin induced-AD-like skin lesions along with obesity. Results and Conclusion: We evaluated weight of organs and thickness of epidermis. These results suggest the possibility of the appropriate in vivo experimental model for AD or the comorbidity with obesity.

Elongated styloid syndrome mimicking temporomandibular joint disorders: a case report and short literature review

  • Abdullah Alsoghier
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.49 no.3
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    • pp.157-162
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    • 2023
  • Elongated styloid syndrome (ESS) can present with myriad symptoms that mimic common features of orofacial pain, such as temporomandibular joint disorders (TMJDs), often causing a challenge and delay in diagnosis. We report the case of a 52-year-old male with a three-year history of non-painful clicking during jaw movement initially diagnosed as TMJD-related internal derangement. The patient presented with a history of annoying jaw sounds for three years, described as a popping sound without bilateral clicking or crepitation. Tinnitus and progressive hearing loss were observed in the right ear, and a hearing aid was recommended by an otolaryngologist. The patient was initially diagnosed with TMJD and managed accordingly; nevertheless, his symptoms persisted. Imaging revealed prominent bilateral styloid process elongation that exceeded the recognized cut-off level of >30 mm for elongation. The patient was informed of his diagnosis and its treatment but opted only for further swallowing and auditory assessments of his ear and nose symptoms. Clinicians should consider including ESS as a differential diagnosis in patients presenting with non-specific chronic orofacial symptoms for timely diagnosis and favorable clinical outcomes.

Optimized patch feature extraction using CNN for emotion recognition (감정 인식을 위해 CNN을 사용한 최적화된 패치 특징 추출)

  • Irfan Haider;Aera kim;Guee-Sang Lee;Soo-Hyung Kim
    • Proceedings of the Korea Information Processing Society Conference
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    • 2023.05a
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    • pp.510-512
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    • 2023
  • In order to enhance a model's capability for detecting facial expressions, this research suggests a pipeline that makes use of the GradCAM component. The patching module and the pseudo-labeling module make up the pipeline. The patching component takes the original face image and divides it into four equal parts. These parts are then each input into a 2Dconvolutional layer to produce a feature vector. Each picture segment is assigned a weight token using GradCAM in the pseudo-labeling module, and this token is then merged with the feature vector using principal component analysis. A convolutional neural network based on transfer learning technique is then utilized to extract the deep features. This technique applied on a public dataset MMI and achieved a validation accuracy of 96.06% which is showing the effectiveness of our method.

Machine Learning-Based Reversible Chaotic Masking Method for User Privacy Protection in CCTV Environment

  • Jimin Ha;Jungho Kang;Jong Hyuk Park
    • Journal of Information Processing Systems
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    • v.19 no.6
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    • pp.767-777
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    • 2023
  • In modern society, user privacy is emerging as an important issue as closed-circuit television (CCTV) systems increase rapidly in various public and private spaces. If CCTV cameras monitor sensitive areas or personal spaces, they can infringe on personal privacy. Someone's behavior patterns, sensitive information, residence, etc. can be exposed, and if the image data collected from CCTV is not properly protected, there can be a risk of data leakage by hackers or illegal accessors. This paper presents an innovative approach to "machine learning based reversible chaotic masking method for user privacy protection in CCTV environment." The proposed method was developed to protect an individual's identity within CCTV images while maintaining the usefulness of the data for surveillance and analysis purposes. This method utilizes a two-step process for user privacy. First, machine learning models are trained to accurately detect and locate human subjects within the CCTV frame. This model is designed to identify individuals accurately and robustly by leveraging state-of-the-art object detection techniques. When an individual is detected, reversible chaos masking technology is applied. This masking technique uses chaos maps to create complex patterns to hide individual facial features and identifiable characteristics. Above all, the generated mask can be reversibly applied and removed, allowing authorized users to access the original unmasking image.

A study on the thematic types, expression techniques, and impact of body positive movement content on the short clip platform TikTok (쇼트 클립 플랫폼 틱톡(TikTok)에 나타난 보디 포지티브 무브먼트 콘텐츠의 주제 유형 및 표현기법)

  • Koh Woon Kim
    • The Research Journal of the Costume Culture
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    • v.32 no.1
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    • pp.17-37
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    • 2024
  • This study examines the rise of the Body Positive Movement on TikTok and its role as a form of online content activism influencing the fashion design and industry. Through a combination of literature review and case study methodology, the study explores the expression techniques and thematic types of Body Positive Movement on TikTok. Reviews of literature, previous studies, online articles, fashion journals, and relevant search terms on TikTok informed a definition of Body Positive Movement and an analysis of its formation and rise. The research findings confirm the impact TikTok content on Body Positive Movement has on the fashion industry in addressing external factors (i.e., 'Appearance', 'Race', 'Aging', 'Physical Disability') and intrinsic factors (i.e., 'Acceptance of Diversity', 'Self-Esteem', 'Rejection of Stereotypes', 'Appropriate Representation', 'Information Provision'). The key external factor , 'Appearance', includes subcategories such as 'Body Shape', 'Body Hair', 'Skin', and 'Facial Features'. TikTok content creators on fashion creatively combine music, emojis, and visual storytelling to exhibit positive self-perception concerning these factors. A significant finding of the study is that short clips predominantly manifesting external factors differentiate into informative or enlightening videos associated with intrinsic factors. The study underscores Body Positive Movement's important influence on the fashion industry from design to presentation.

Dental Treatment of a Wolf-Hirschhorn Syndrome Patient: A Case Report (Wolf-Hirschhorn syndrome 환아의 치과 치료 치험례)

  • Kim, Miae;Park, Jihyun;Mah, Yonjoo
    • Journal of the korean academy of Pediatric Dentistry
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    • v.43 no.3
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    • pp.313-319
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    • 2016
  • Wolf-Hirschhorn syndrome (WHS), associated with the deletion of the short arm of chromosome 4, causes multiple congenital malformations. Patients suffer from various deformities, including mental and growth disorders, epilepsy, hypotonia, congenital heart defects, and atypical craniofacial features. The "Greek warrior helmet appearance" is the most characteristic feature, with a prominent glabella, high arched eyebrow, broad nasal bridge, and hypertelorism. Cleft lip with or without cleft palate is observed in 30% of patients. Dental structure anomalies also exist including multiple tooth agenesis and over-retained primary molars caused by MSX1 gene impairment, and cone-shaped and taurodontic teeth. This case, a 9-year-old girl with WHS, showed intellectual disability, delayed growth development, previous occurrence of seizures, otitis media, and the typical facial features of WHS. Dental findings included multiple congenital missing teeth, over-retained primary teeth, and severe caries on the primary molars. Dental treatments were performed under general anesthesia. This report documents the characteristics of WHS, including general and oral features, and discusses the importance of oral hygiene and preventive dental management.