• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.4
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• pp.682-686
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• 2005

Incontinentia pigmenti(IP), so called Block-Sulzberger syndrome is a rare genodermatosis that occurs almost in female infant; usually lethal in males, X-linked dominantly inherited disorder. IP is characterized by abnormalities of mesodermal and ectodermal tissues including eye, tooth, skin, nail, breast and hair as well as neurological deficiencies. Dental problems are congenital missing of teeth, delayed eruption, abnormal crown shape and so on. Here is a case of 6 year-old female with IP. She had congenital missing of primary and permanent teeth, delayed eruption, maxillary deficiency and extra cusps, resulting in unstable occlusion. Systemically, she had a history of operating eyes due to problem of retina and hyperpigmented macules on her trunk and extremities as typical character of IP.

• Journal of muscle and joint health
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• v.2 no.2
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• pp.197-208
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• 1995

The purpose of this study is to describe specific system manifestations and suggested nursing interventions in patients with lupus. Lupus is a chronic, inflammatory, multisystemic disorder of the immune system. Antibodies are formed which react against the person's own normal tissue. This abnormal response can be very damaging and leads to the many manifestations of the lupus. Lupus can affect any part of the body, and patients experience symptoms in organs involved. So lupus patients have integumentary, blood, central nervous system, eye, gastrointestinal, musculoskeletal, kidney, heart and lining membranes, reproductive system involvement. The courses are unpredictable and very individualized. Lupus varies greatly in severity from mild cases requiring minimal interventions to those in which significant damage occurs to vital organs such as the lungs, heart, kidney and brain which ultimately can be fatal. In addition to direct physical care, the nursing professional has an excellent position from which to support the lupus patient. Patients need assistance with receiving current, accurate information about the disease process and also to be helped in developing realistic expectations and goals. Nursing interventions for the patient with lupus is challenge drawing on at the resources, knowledge and strengths the nursing teams have to offer. Because of the unpredictable, highly individualized and frequently changing the nature of the disease itself as well as the intricacy of the patient's needs. The nurse has a key role in its management. The patient and nurse, working together, have much to offer each other. These are of inestimable value to the patient. As the nurse listens to the patient and learns what problems the patient perceives, can guide the patient in a self-help program that allows to adapt to living with a chronic illness.

• Journal of Acupuncture Research
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• v.17 no.3
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• pp.87-98
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• 2000

This study is designed to evaluate the clinical implications of Gd-DPTA (Gadolinium-diethyl enetriamine pentacetic acid) enhanced MRI(Magnetic resonance imaging) in Bell's palsy and find it's usefulness in Oriental Medicine In this study, 25 outparients with Bell's palsy were studied that MRI was performed. To evaluate degree of facial palsy, H-B(House-Brackmann) Grade was used. In Oriental Medical therapy, Acupuncture and Herbal medicine were treated. Subjective cause was divided into exposure to chill, fatigue, stress, mixed cases. Enhanced site was compared with symptoms which were disorder of eye, hearing, taste, and facial muscle palsy. Also, Relation between time which was performed MRI and enhancement was analyzed. The enhanced lesion in MRI was divided into five segments; Internal audiitory canal, Labyrinthine segment, Geniculate ganglion, Tympanic segment, Mastoid segment. In Bell's palsy, 20 of 25 patients(80%) had abnormal contrast enhancement of the facial nerve. The H-B grade and interval performed MRI from onset were directly proportionate to enhancement. That is to say, Severe facial palsy short interval show high possibility of enhancement. There was no relation between subjective causes and enhanced site of facial nerve in MRI. Also Clinical symptoms didn't coincide with MRI findings.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.4
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• pp.667-672
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• 2003

Rieger syndrome is a rare, autosomal dominant genetic disorder characterized by malformation of the anterior chamber of the eye(goniodysgenesis) coincident with hypodontia. It may also be accompanied by a spectrum of dental, craniofacial and somatic anomalies. Mutations in paired-like homeodomain transcription factor2(PITX2) are associated with the syndrome, and its frequency in the general population has been estimated to be 1 : 200,000. In the present case, the patient, 4 year 7 month-old female, had posterior embryotoxon and polycoria. The maxilla was retrusive in cephalometric radiography. She had congenital missing on #52, #62 and some tooth germs of permanent tooth were not detected in panoramic radiography. The purpose of this paper is to report the dental and craniofacial findings and review the pertinent literature through this case.

• Journal of Families and Better Life
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• v.29 no.3
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• pp.43-57
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• 2011

Chronic mental-handicapped people are lacking in non-verbal expression such as eye contact, intonation, voice volume, facial expression, and gesture as well as the contents of speech, speak with a monotonous voice, fail to be vivid and clear in voice, and have absence of expression, thereby bringing about difficulty even for social adjustment and about low self-esteem. Accordingly, the purpose of this study was to examine effectiveness for enhancing self-expression and self-esteem by applying music therapy to the chronic mental-handicapped. The subjects were the chronic mental-handicapped who receive rehabilitation service at the community rehabilitation center, and who have over 10 years in the duration of disease. 1he music therapy activity was progressed with totally 14 sessions during 7 weeks with twice a week. This study confirmed t-test that is verification of difference in the mean, in order to examine difference between before and after music therapy in self-expression and self-esteem of the chronic mental-handicapped, and researched into qualitative case. The findings are as follows. First, as a result of score in self-expression scale, the significant improvement was shown after music therapy compared to before music therapy. The significant difference was indicated in verbal self-expression, phonetic self-expression, and non-verbal self-expression, which are its sub-spheres. Thus, the conclusion was obtained as saying that music therapy is effective for enhancing self-expression. Second, as a result of score in self-esteem scale, the significant difference was shown after music therapy compared to before music therapy. Thus, the conclusion was obtained as saying that music therapy is effective for enhancing self-esteem. Through the above results, the music therapy showed effectiveness of self-expression ability and self-esteem in the chronic mental-handicapped at the community rehabilitation center, thereby having been confirmed to be possibly utilized as rehabilitation program for the social skill ability and the social adjustment of the chronic mental-handicapped.

• Journal of Apiculture
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• v.34 no.1
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• pp.27-37
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• 2019

Rapid detection of Tropilaelaps, an external parasite of honeybees that lead to malformation of honeybee or colony collapse disorder, is becoming important. But it is very difficult to find with the naked eye of Tropilaelaps. In this study, we have developed a method to detect the specific gene of Tropilaelaps from the hive debris and to know the number of Tropilaelaps in the hive through Tropilaelaps-specific quantitative detection. Tropilaelaps-specific gene amplified in DNA extracted from hive debris by consecutive PCR (1st detection, 2nd nested PCR). It could detect 101 molecules level of Tropilaelaps-specific gene and confirm the amplification of the Tropilaelaps-specific gene. It was possible to accurately quantify the number of Tropilaelaps from the hive debris sample, which is difficult to discriminate the presence of Tropilaelaps visually, through Tropilaelaps-specific detection. Under the microscope, Tropilaelaps was collected and quantitative detection of Tropilaelaps-specific genes was performed. It was possible to quantify the number of Tropilaelaps present in the hive through the molecules of the quantified Tropilaelaps-specific genes. We suggest that hive debris can represent as a micro-environment to hive and show that it can be a simpler and more accurate sample than using a parasitic host honeybee. We expect that hive debris should facilitate the monitoring of Tropilaelaps in hive.

• Clinical Nutrition Research
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• v.12 no.3
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• pp.169-176
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• 2023

Glucose transporter type 1 (GLUT1) deficiency syndrome (DS) is a metabolic brain disorder caused by a deficiency resulting from SLC2A1 gene mutation and is characterized by abnormal brain metabolism and associated metabolic encephalopathy. Reduced glucose supply to the brain leads to brain damage, resulting in delayed neurodevelopment in infancy and symptoms such as eye abnormalities, microcephaly, ataxia, and rigidity. Treatment options for GLUT1 DS include ketogenic diet (KD), pharmacotherapy, and rehabilitation therapy. Of these, KD is an essential and the most important treatment method as it promotes brain neurodevelopment by generating ketone bodies to produce energy. This case is a focused study on intensive KD nutritional intervention for an infant diagnosed with GLUT1 DS at Gangnam Severance Hospital from May 2022 to January 2023. During the initial hospitalization, nutritional intervention was performed to address poor intake via the use of concentrated formula and an attempt was made to introduce complementary feeding. After the second hospitalization and diagnosis of GLUT1 DS, positive effects on the infant's growth and development, nutritional status, and seizure control were achieved with minimal side effects by implementing KD nutritional intervention and adjusting the type and dosage of anticonvulsant medications. In conclusion, for patients with GLUT1 DS, it is important to implement a KD with an appropriate ratio of ketogenic to nonketogenic components to supply adequate energy. Furthermore, individualized and intensive nutritional management is necessary to improve growth, development, and nutritional status.

• Environmental Analysis Health and Toxicology
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• v.31
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• pp.19.1-19.7
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• 2016

A large portion of the Korean population has been exposed to toxic humidifier disinfectants (HDs), and considering that the majority of the victims are infants, the magnitude of the damage is expected to be considerably larger than what has currently been revealed. The current victims are voicing problems caused by various diseases, including but not limited to lung, upper respiratory tract, cardiovascular, kidney, musculoskeletal, eye, and skin diseases, etc. However, there has been difficulty in gaining validation for these health problems and identifying causal relationships due to lack of evidence proving that toxic HD is the specific causes of extrapulmonary diseases such as allergic rhinitis. Furthermore, the victims and bereaved families of the HD case have not received any support for psychological distress such as post-traumatic stress disorder, depression, feelings of injustice, and anger caused by the trauma. In addition, because the underlying mechanisms of the toxic materials within the HDs such as polyhexamethylene guanidine phosphate, poly(oxyalkylene guanidine) hydrochloride, chloromethylisothiazolinone /methylisothiazolinone have yet to be determined, the demand for information regarding the HD issue is growing. The victims of the HD cases require support that goes beyond financial aid for medical costs and living expenses. There is a desperate need for government-led integrated support centers that provide individualized support through health screenings; in other words, we need an integrated facility that provides the appropriate social support to allow the victims to recover their physical and mental health, so as to well prepare them to return to a normal life. The implementation of such a plan requires not only the close cooperation between those departments already directly involved such as the Ministry of Environment and the Ministry of Health and Welfare, but also active support on a national scale from pan-governmental consultative bodies.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.24 no.1
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• pp.142-170
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• 2011

Objective : The purpose of this study is to investigate dizziness of Plain Questions $\ll$素問$\gg$ and Miraculous Pivot $\ll$靈樞$\gg$. Methods : We conducted a study on the original text paragraphs of Internal Classic $\ll$內經$\gg$ containing the dizziness and analysis of Yang, Ma, Zhang, Wang etc. We drew a parallel between dizziness from Internal Classic $\ll$內經$\gg$and matching diagnoses from western medicine. Results : The results were as follows. 1. Dizziness in Ok Ki Jin Jiang Ron <玉機眞藏論> and Pyo Bon Byeong Jeon Ron <標本病傳論> had relation to liver and was similar to dizziness caused by tension, hypertension, anemia and cerebrovascular accident etc. in western medicine. 2. Dizziness in Ja Yeol<刺熱>, O Sa<五邪> and Hai Ron<海論> had relation to kidney and was similar to dizziness caused by aging and peripheral vertigo concurrent with tinnitus and difficulty in hearing in western medicine. 3. Dizziness in O Sa<五邪> had relation to heart(pericardium) and was similar to dizziness caused by cardiac output loss and psychogenic dizziness in western medicine. 4. In Internal Classic $\ll$內經$\gg$ the main etiology of dizziness was infirmity(虛), which were Qi(氣) of the upper portion of the body being insufficient(上氣不足), blood depletion(血枯), deficiency of marrow-reservoir(髓海不足) etc. 5. In Dae Hok Ron<大惑論> etiology and pathogenesis of dizziness were mentioned and dizziness was similar to dizziness caused by eye disorder, psychogenic dizziness and central dizziness in western medicine. 6. In Internal Classic $\ll$內經$\gg$ the meridian of acupuncture points which was used much for dizziness was Bladder Meridian. Aqupunture points used in treatment of dizziness were Ch'onju(天柱), Kollyun(崑崙), Taejo, Chok-t'ongkok(足通谷) etc. Conclusion : We found out etiology, pathogenesis, treatments of dizziness in Internal Classic $\ll$內經$\gg$. Further we compared with western medicine to develop better understanding of dizziness.