• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• Journal of the Korean Academy of Esthetic Dentistry
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• v.30 no.2
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• pp.71-90
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• 2021

The virtual patient dataset is a collection of diagnostic data from various sources acquired from a single patient into a coordinate system of three-dimensional visualization. Virtual patient dataset makes it possible to establish a treatment plan, simulate various treatment procedures, and create a treatment planning delivery device. Clinicians can design and simulate a patient's smile on the virtual patient dataset and select the optimal result from the diagnostic process. The selected treatment plan can be delivered identically to the patient using manufacturing techniques such as 3D printing, milling, and injection molding. The delivery of this treatment plan can be linked to the final prosthesis through mockup confirmation through provisional restoration fabrication and delivery in the patient's mouth. In this way, if the diagnostic data superimposition and processing accuracy during the manufacturing process are guaranteed, 3D digital smile design simulated in 3D visualization can be accurately delivered to the real patient. As a clinical application method of the virtual patient dataset, we suggest a decision-making method that can exclude occlusal adjustment treatment from the treatment plan through the digital occlusal pressure analysis. A comparative analysis of whole-body scans before and after temporomandibular joint treatment was suggested for adolescent idiopathic scoliosis patients with temporomandibular joint disease. Occlusal plane and smile aesthetic analysis based on the virtual patient dataset was presented when treating patients with complete dentures.

• Journal of dental hygiene science
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• v.16 no.1
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• pp.84-92
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• 2016

Cooperation of the patients in orthodontic treatment is an essential element. This study examines the internal and external restriction factors and level of cooperation for orthodontic treatment of adolescent orthodontic treatment patients, and the factors that impart influence on the level of cooperation for orthodontic treatment. 'Form for students' among the indices of internal and external restrictions for orthodontics, which is an adaption of 'Orthodontic Locus of Control Scale' was used as survey tool, and 'Reliability and Stability of the Orthodontic Patient Cooperation Scale' was used as survey tool for the level of cooperation of orthodontic patients. As the result of examination of the effect of internal and external restriction factors on level of cooperation for orthodontic treatment by compensating the general characteristics in the multiple regression analysis, it was found that the level of cooperation for orthodontic treatment is higher for the patients who believe there is strong influence of external restrictions-patents-on the events that determines orthodontic treatment. In order to enhance the level of cooperation for orthodontic treatment of adolescent orthodontic patients, there is a need to assess the relationship between the patient and parents as well as the attitude or psychological state of the patients on orthodontic treatment.

• Journal of the Korean Orthopaedic Association
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• v.56 no.2
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• pp.164-167
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• 2021

Down syndrome is the most common chromosomal disorder and is accompanied by hip osteoarthritis in approximately 28% of patients. This paper reports a case of hip arthrodesis as a treatment for severe hip osteoarthritis in adolescent Down syndrome patients. When performing surgical treatment of patients with Down syndrome, it is necessary to take a comprehensive approach that considers not only the medical point of view, but also the psychological and economic requirements of the patient and their social environment.

• Journal of Hospice and Palliative Care
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• v.23 no.4
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• pp.212-227
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• 2020

Purpose: This study presents the process of designing workbooks for advance care planning appropriate for the Korean cultural setting and describes actual case studies. Methods: This study focused on single inductive case studies of the utilization of an advance care planning workbook and recruited individual participants. Results: The workbook for adolescents contained six sessions and the workbook for children contained seven sessions. The workbook sessions led to four major discoveries: 1) considering the Korean cultural context, discussions on life and death must be held indirectly; 2) the role of the counselor as a supporter is crucial for the workbook to be effective; 3) the workbook must be accessible regardless of the seriousness of the illness; and 4) patients must be able to make their own choice between the workbook versions for children and adolescents. Six facilitating factors improved engagement: 1) the role of the counselor as a supporter; 2) building trust with the patient; 3) affirming freedom of expression on topics the patient wished to avoid talking about; 4) having discussions on what private information to keep secret and to whom the information can be disclosed; 5) discovering and regularly discussing relevant topics; and 6) regular communication and information-sharing with the patient's medical service providers. Conclusion: It is necessary to build on actual case studies regarding workbooks for children and adolescents in order to expand the usage of these workbooks to all relevant medical institutions in Korea.

• The Journal of Churna Manual Medicine for Spine and Nerves
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• v.8 no.2
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• pp.87-95
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• 2013

Objectives: This report of three cases illustrates the potential effect of chuna therapy and myofascial release technique on back pain and curve regression in the at-risk, skeletally immature patient with adolescent idiopathic scoliosis. Methods: The correction program for scoliosis takes 3 month per case. Chuna Therapy and MRT were given once a week and other oriental medicine care was given twice a week to care the complications of scoliosis. The Cobb's angle(by X-ray, Full spine view) and Visual analogue scale(VAS) were evaluated before and after the treatments. Results: After the program, both of Cobb's angle and VAS decreased. Conclusion: Though it is a case report, we found Chuna Therapy and MRT might have valid effect on adolescent idiopathic scoliosis patients. Further rigorous case series and controlled trials are warranted.

• The korean journal of orthodontics
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• v.51 no.5
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• pp.337-345
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• 2021

Objective: To investigate the phenotypes and predominant skeletodental pattern in pre-adolescent patients with Pierre-Robin sequence (PRS). Methods: The samples consisted of 26 Korean pre-adolescent PRS patients (11 boys and 15 girls; mean age at the investigation, 9.20 years) treated at the Department of Orthodontics, Seoul National University Dental Hospital between 1998 and 2019. Dental phenotypes, oral manifestation, cephalometric variables, and associated anomalies were investigated and statistically analyzed. Results: Congenitally missing teeth (CMT) were found in 34.6% of the patients (n = 9/26, 20 teeth, 2.22 teeth per patient) with 55.5% (n = 5/9) exhibiting bilaterally symmetric missing pattern. The mandibular incisors were the most common CMT (n = 11/20). Predominant skeletodental patterns included Class II relationship (57.7%), posteriorly positioned maxilla (76.9%) and mandible (92.3%), hyper-divergent pattern (92.3%), high gonial angle (65.4%), small mandibular body length to anterior cranial base ratio (65.4%), linguoversion of the maxillary incisors (76.9%), and linguoversion of the mandibular incisors (80.8%). Incomplete cleft palate (CP) of hard palate with complete CP of soft palate (61.5%) was the most frequently observed, followed by complete CP of hard and soft palate (19.2%) and CP of soft palate (19.2%) (p < 0.05). However, CP severity did not show a significant correlation with any cephalometric variables except incisor mandibular plane angle (p < 0.05). Five craniofacial and 15 extra-craniofacial anomalies were observed (53.8% patients); this implicated the need of routine screening. Conclusions: The results might provide primary data for individualized diagnosis and treatment planning for pre-adolescent PRS patients despite a single institution-based data.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.2 no.1
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• pp.43-48
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• 1991

The College entrance examination stress syndrome is a kind of anxiety disorder. The underlying cause of this disorder is not a test anxiety itself. One's hidden inner and familial conflicts are more likely attributed to this disorder. Patient's the most common complaints are various psychosomatic symptoms but in severe cases underlying psychopathology may be activated and progress to major psychosis. In a broad sense adolescent's delinguent behavior, drug abuse, school drop-out and sucide are closely related to this syndrome. In clinical management of these patients, considering the special situation of impending examination, the therapist must access to central conflict theme in a short time without severe resistance. The authors classified this syndrome into 5 clinical subtypes ; 'the anxious group', 'the exhaustion group', 'the despair group', 'the emptyness group' and 'the boredome group'. Typical case of each subtype and it's management methods were presented briefly.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.112-115
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• 2016

Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily. However, during admission, he developed symptoms of cardiac tamponade. Closed pericardiostomy was performed, after which the patient's chest discomfort improved, and his vital signs stabilized. Herein, we report a case of an adolescent with Noonan syndrome, who was diagnosed with Hashimoto thyroiditis with an unusual presentation of cardiac tamponade.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.49 no.4
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• pp.184-191
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• 2023

Germectomy is a surgical method most typically performed in young adults. The indications for treatment are controversial. The purpose of this review was to determine the correct indications for germectomy and to discuss the advantages and disadvantages of the procedure. We reviewed the surgical techniques (anesthetic methods, patient preparation, and flap designs) and complications. Germectomy for orthodontic purposes is a common indication for surgical removal of tooth germ among young patients. Several studies have supported removal at an earlier age to produce fewer surgical complications. Several surgical techniques have been described in the literature.