• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.1
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• pp.37-42
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• 2017

Noonan syndrome is a relatively common genetic disorder which is autosomal dominant. Prevalence of Noonan syndrome is varying from 0.04% to 0.1%. It is characterized by distinctive facial features, chest deformity, short stature and congenital heart disease. Oral findings in patient with Noonan syndrome include high arched palate, dental malocclusion, articulation difficulties, and micrognathia. The purpose of this case report is to describe dental treatment of a children with Noonan syndrome. 5 year old boy with Noonan syndrome visited to the Seoul National University Dental Hospital for dental treatment. Due to need for close monitoring, concern about seizure and poor cooperation, we planned to perform the dental treatment under general anesthesia. Under general anesthesia, caries treatment was successfully performed and there was no postoperative complications related to general anesthesia. High arched palate was observed which is characteristic in Noonan syndrome.

• Journal of Korean Academy of Oral and Maxillofacial Radiology
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• v.28 no.1
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• pp.27-36
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• 1998

The purpose of this study was to obtain information on the clinical and radiographic features of the fibro-osseous lesions in the jaws. For this study, the author examined and analysed the clinical records and radiographs of 71 cases of 68 patients in fibrous dysplasia, 35 cases of ossifying fibroma and 30 cases of 16 patients of periapical cemental dysplasia diagnosed by clinical and radiographic or histopathological examinations. The obtained results were as followings: L Fibrous dysplasia occurred most frequently in the 2nd decade (30.0％), ossifying fibroma in the 3rd-4th decades, periapical cemental dysplasia in the 4th decade, and all of three lesions showed slight predilection in females. In most cases, chief complaints were painless facial swelling in fibrous dysplasia and ossifying fibroma, and periapical cemental dysplasia was found accidentally in radiographs. 2. Fibrous dysplasia was occurred more frequently in maxilla, ossifying fibroma in mandible and both lesions in premolar-molar area. Periapical cemental dysplasia was occurred most frequently in the mandibular anterior area. The size of fibrous dysplasia was larger than that of ossifying fibroma, and the shape of ossifying fibroma was more round and elliptical than fibrous dysplasia whose was fusiform. 3. Fibrous dysplasia was shown homogeneous radiopaque shadow of 57.6％ and ossifying fibroma & periapical cemental dysplasia were shown mixed appearance of radiolucency and radiopacity shadows at 74.2％, 60.0％, respectively. 4. Fibrous dysplasia was entirely shown poorly defined at 87.7％, but ossifying fibroma & periapical cemental dysplasia were shown well outlined at 60.0％, 70.0％, respectively. 5. Cortical thinning and expansion were observed in fibrous dysplasia and ossifying fibroma, and severe in ossifying fibroma than fibrous dysplasia, and those signs were not seen in periapical cemental dysplasia. Loss of lamina dura was dominant in fibrous dysplasia and root resorption was dominant in ossifying fibroma. Displacement of mandibular canal and the degree of the increase of vertical dimension were alike in both lesions. Displacement of maxillary sinus or nasal cavity, thinning & expansion of the maxillary sinus were dominant in fibrous dysplasia. 6. Polyostotic fibrous dysplasia was occurred at 5.9％, Multiple periapical cemental dysplasia at 43.7％. Occurrence rate in the edentulous area of fibrous dysplasia and ossifying fibroma were 7.0％, 8.6％, respectively.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.37-44
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• 2010

Purpose : Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. Materials and Methods : Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. Results : All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. Conclusion : Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.

• Pediatric Infection and Vaccine
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• v.22 no.3
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• pp.210-215
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• 2015

Macrophage activation syndrome (MAS) is a rare complication in systemic lupus erythematosus (SLE) that can be triggered by infections. Due to the fact that MAS may mimic clinical features of underlying rheumatic disease, or be confused with an infectious complication, its detection can prove challenging. This is particularly true when there is an unknown/undiagnosed disease; and could turn into an even greater challenge if MAS and SLE are combined with a viral infection. A-14-year-old female came to the hospital with an ongoing fever for 2 weeks and a painful facial skin rash. Hepatomegaly, pancytopenia, increased aspartate aminotransferase, elevated serum ferritin and lactate dehydrogenase were reported. No hemophagocytic infiltration of bone marrow was reported. The patient was suspected for hemophagocytic lymphohistiocytosis. Her skin rashes were eczema herpeticum, which is usually associated with immune compromised conditions. With the history of oral ulcers and malar rash, positive ANA and low C3, C4 and the evidence of hemolytic anemia, she was diagnosed as SLE. According to the diagnostic guideline for MAS in SLE, she was diagnosed MAS as well, activated by acute HSV infection. After administering steroids and antiviral agent, the fever and skin rash disappeared, and the abnormal laboratory findings normalized. Therefore, we are reporting a rare case of MAS triggered by acute HSV infection as the first manifestation of SLE.

• Clinical and Experimental Pediatrics
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• v.61 no.12
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• pp.403-406
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• 2018

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

• KSII Transactions on Internet and Information Systems (TIIS)
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• v.15 no.3
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• pp.1100-1118
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• 2021

In a wide range of ML applications, the training data contains privacy-sensitive information that should be kept secure. Training the ML systems by privacy-sensitive data makes the ML model inherent to the data. As the structure of the model has been fine-tuned by training data, the model can be abused for accessing the data by the estimation in a reverse process called model inversion attack (MIA). Although, MIA has been applied to shallow neural network models of recognizers in literature and its threat in privacy violation has been approved, in the case of a deep learning (DL) model, its efficiency was under question. It was due to the complexity of a DL model structure, big number of DL model parameters, the huge size of training data, big number of registered users to a DL model and thereof big number of class labels. This research work first analyses the possibility of MIA on a deep learning model of a recognition system, namely a face recognizer. Second, despite the conventional MIA under the white box scenario of having partial access to the users' non-sensitive information in addition to the model structure, the MIA is implemented on a deep face recognition system by just having the model structure and parameters but not any user information. In this aspect, it is under a semi-white box scenario or in other words a gray-box scenario. The experimental results in targeting five registered users of a CNN-based face recognition system approve the possibility of regeneration of users' face images even for a deep model by MIA under a gray box scenario. Although, for some images the evaluation recognition score is low and the generated images are not easily recognizable, but for some other images the score is high and facial features of the targeted identities are observable. The objective and subjective evaluations demonstrate that privacy cyber-attack by MIA on a deep recognition system not only is feasible but also is a serious threat with increasing alert state in the future as there is considerable potential for integration more advanced ML techniques to MIA.

• Journal of the korean academy of Pediatric Dentistry
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• v.49 no.4
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• pp.357-367
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• 2022

Sleep disordered breathing (SDB) is a disease characterized by repeated hypopnea and apnea during sleep due to complete or partial obstruction of upper airway. The prevalence of pediatric SDB is approximately 12 - 15%, and the most common age group is preschool children aged 3 - 5 years. Children show more varied presentations, from snoring and frequent arousals to enuresis and hyperactivity. The main cause of pediatric SDB is obstruction of the upper airway related to enlarged tonsils and adenoids. If SDB is left untreated, it can cause complications such as learning difficulties, cognitive impairment, behavioral problems, cardiovascular disease, metabolic syndrome, and poor growth. Pediatric dentists are in a special position to identify children at risk for SDB. Pediatric dentists recognize clinical features related to SDB, and they should screen for SDB by using the pediatric sleep questionnaire (PSQ), lateral cephalometry radiograph, and portable sleep monitoring test and refer to sleep specialists. As a therapeutic approach, maxillary arch expansion treatment, mandible advancement device, and lingual frenectomy can be performed. Pediatric dentists should recognize that prolonged mouth breathing, lower tongue posture, and ankyloglossia can cause abnormal facial skeletal growth patterns and sleep problems. Pediatric dentists should be able to prevent these problems through early intervention.

• The Journal of the Convergence on Culture Technology
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• v.8 no.5
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• pp.497-502
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• 2022

Information delivery among young generation has a distinct tendency to prefer visual to text as means of information distribution and sharing recently, and it is natural to distribute information through Youtube or one-man broadcasting on Internet. That is, young generation usually get their information through this kind of distribution procedure. Many young generation are also drastic and more aggressive for decorating themselves very uniquely. It tends to create personal characteristics freely through drastic expression and attempt of face makeup, hair styling and fashion coordination without distinction of sex. Especially, face makeup becomes an object of major concern among males nowadays, and female of course, then it is the major means to express their personality. In this study, to meet the demands of the times, we design and implement the intellectual smart mirror application that efficiently retrieves and recommends the related videos among Youtube or one-man broadcastings produced by famous professional makeup artists to implement the face makeup congruous with our face shape, hair color & style, skin tone, fashion color & style in order to create the face makeup that represent our characteristics. We also introduce the AI technique to provide optimal solution based on the learning of user's search patterns and facial features, and finally provide the detailed makeup face images to give the chance to get the makeup skill stage by stage.

• Clinical and Experimental Pediatrics
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• v.48 no.7
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• pp.701-705
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• 2005

Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods : We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records. Results : Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay. Conclusion : In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18.

• Journal of Oral Medicine and Pain
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• v.36 no.3
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• pp.169-176
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• 2011

Oromandibular dystonia (OMD) is a form of focal dystonia that affects the masticatory, facial and lingual muscles in any variety of combinations, which results in repetitive involuntary and possibly painful jaw opening, closing, deviation or a combination of these movements. This study aimed to investigate clinical features and treatment type of OMD patients. By retrospective chart review, the study was conducted to consecutive OMD patients who visited a department of Oral Medicine and Orofacial Pain Clinic in a university dental hospital during Aug 2007 to Apr 2010. 78 OMD patients were identified with female preponderance (M:F=1:3.6) and a mean age of 72 years. Their mean duration of OMD was about 10 months. The most common chief complaints at the first visit was jaw ache, followed by uncontrolled, repetitive movement of the jaw and/or oral tissues, pain in the oral region(p=0.000). The most common subtype of OMD was lateral jaw-deviation dystonia, followed by combination and jaw-closing dystonia(p=0.001). While no apparent cause was recognized in over 60% of the OMD patients, peripheral trauma including dental treatment such as prosthetic treatment and extraction was the most frequently reported as precipitating factor(p=0.000). Medication was the 1st line therapy for our patients and anxiolytics such as clonazepam was given to most of them. Based on the results of this study, OMD is the disease of the elderly, particularly of women and causes orofacial pain and compromises function of orofacial region. Some patients considered dental treatment a precipitating factor. Dentists, therefore, should have knowledge of symptoms and treatment of OMD.