• Journal of Genetic Medicine
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• v.8 no.2
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• pp.130-134
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• 2011

Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.151-155
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• 2010

Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation is common, though the P253R mutation is not as frequent. Common symptoms include skeletal malformations, poor joint mobility, eye and ear problems, cleft palate, and orthodontic and other dental problems. We report a case of an infant with the common morphological features of Apert syndrome. Interestingly, she was found to have the P253R mutation in FGFR2 exon VIII, which has been less commonly observed in Korea. A brief review of the literature is included.

• International journal of thyroidology
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• v.11 no.2
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• pp.82-87
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• 2018

Skin-related toxicity is one of the most important adverse events from multi-target tyrosine kinase inhibitor (MTKI) to treat radioiodine refractory thyroid cancer. As hand foot skin reaction can limit quality of life and therapeutic effectiveness, it is essential to cope with a variety of severity of skin-related toxicity induced by MTKI. Herein, we will discuss two representative cases of skin-related toxicities which were managed by discontinuation/reduction of therapeutic doses of MTKI and were treated by proper medication in thyroid cancer patients with distant metastasis.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• The Journal of Korean Obstetrics and Gynecology
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• v.28 no.2
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• pp.193-203
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• 2015

Objectives : The purpose of this study is to evaluate the clinical effects of ascending kidney water and descending heart fire pharmacopuncture treatment for hot flush and sweating. Methods : Ascending kidney water and descending heart fire pharmacopuncture is achieved by injecting pharmacopuncture on a specific acupoint to change from the state of water-fire disharmony to harmonious state. Hwangryunhaedok-tang (黃連解毒湯) pharmacopuncture is injected on both side Gyeonjeong (GB ₂₁ ), Pungji (GB ₂₀ ). Total 0.4 cc was injected by 0.1 cc each point. BUM (Bear’s gall bladder, ox bezoar and musk) pharmacopuncture is injected on both side Jeonjung (CV ₁₇ ), Jungwan (CV ₁₂ ), Gihae (CV ₆ ). Total 0.15 cc was injected by 0.05 cc each point. Treatment was done daily. The method of evaluation are Hot Flush Score (HFS), VAS and sweating areas. Results : In case 1, after treatment hot flush score was reduced from 24 to 4 points. VAS scale was reduced from 7 to 2. It took about two weeks for the symptoms to decrease by half. Associated symptoms almost did not stay at discharge. In case 2, after treatment hot flush score was reduced from 28 to 2 points. VAS scale was reduced from 10 to 3. And emotional symptoms were reduced about 70%. In case 3, after treatment hot flush score was reduced from 8 to 1 points. VAS scale was reduced from 6 to 1. And headache and chest discomfort symptoms have disappeared. Conclusions : Ascending kidney water and descending heart fire pharmacopuncture treatment is effective for improve ascending kidney water and descending heart fire energy. Therefore, it will be used to alleviate hot flush and sweating.