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Kang, Eungu,Kim, Yoon-Myung,Kim, Dae-Hee,Yoo, Han-Wook,Lee, Beom Hee Williams & Wilkins Co 2017 Medicine Vol.96 No.6
<P><B>Abstract</B></P><P><B>Rationale:</B></P><P>Angiokeratomas are the earliest manifestation of Fabry disease (FD), and the extent of their appearance is related to disease severity. Angiokeratomas are mostly found on cutaneous regions.</P><P><B>Patient concerns, diagnoses, interventions, and outcomes:</B></P><P>Here we report an FD patient with widespread gastrointestinal angiokeratomas who developed life-threatening bleeding following anticoagulation for atrial fibrillation.</P><P><B>Lessons:</B></P><P>Careful observation for gastrointestinal bleeding is warranted for patients on anticoagulation with extensive cutaneous angiokeratomas. Furthermore, our experience suggests that surveillance is needed to assess the prevalence and extent of gastrointestinal angiokeratomas in patients with FD.</P>
Clinical Genetic Testing in Children with Kidney Disease
Kang, Eungu,Lee, Beom Hee Korean Society of Pediatric Nephrology 2021 Childhood kidney diseases Vol.25 No.1
Chronic kidney disease, the presence of structural and functional abnormalities in the kidneys, is associated with a lower quality of life and increased morbidity and mortality in children. Genetic etiologies account for a substantial proportion of pediatric chronic kidney disease. With recent advances in genetic testing techniques, an increasing number of genetic causes of kidney disease continue to be found. Genetic testing is recommended in children with steroid-resistant nephrotic syndrome, congenital malformations of the kidney and urinary tract, cystic disease, or kidney disease with extrarenal manifestations. Diagnostic yields differ according to the category of clinical diagnosis and the choice of test. Here, we review the characteristics of genetic testing modalities and the implications of genetic testing in clinical genetic diagnostics.
Kang, Eungu,Kim, Yoon-Myung,Heo, Sun Hee,Jung, Euiseok,Kim, Ki-Soo,Yoo, Hyun Ju,Kim, Eun Na,Kim, Chong Jai,Kim, Gu-Hwan,Lee, Beom Hee Elsevier 2018 Clinica chimica acta Vol.482 No.-
<P><B>Abstract</B></P> <P>Nonimmune hydrops fetalis is the most severe clinical manifestation of lysosomal storage diseases (LSDs). Around 14 different LSDs have been accounted for as 1–15% of the cause of nonimmune hydrops fetalis. We report a Korean infant affected by an extremely rare but severe form of sialic acid storage disease. The patient presented with nonimmune hydrops fetalis, dysmorphic facial features, hepatosplenomegaly, and dysostosis multiplex and died at 39 days of age due to persistent pulmonary hypertension. LSD was suspected based on the presence of diffuse vacuolation of syncytiotrophoblast, villous stromal cells, and intermediate trophoblast in placental biopsy. Increased excretion of urinary free sialic acid was detected by liquid chromatography-tandem mass spectrometry. The patient was compound heterozygous of the c.908G>A (p.Trp303Ter) and the splicing mutation c.1259+5G>T (IVS9+5 G>T) in the <I>SLC17A5</I> gene.</P>
Neurofibromatosis type I: points to be considered by general pediatricians
Kang, Eungu,Yoon, Hee Mang,Lee, Beom Hee The Korean Pediatric Society 2021 Clinical and Experimental Pediatrics (CEP) Vol.64 No.4
Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous cafe-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients are at risk for developing tumors of the central and peripheral nervous system. Therefore, adequate counseling for genetic testing, age-appropriate surveillance, and management are important. This review suggests several issues that should be considered to help general pediatricians provide adequate clinical care and genetic counseling to patients with NF1 and their families.
Two cases of TSC2/PKD1 contiguous gene deletion syndrome
You, Jihye,Kang, Eungu,Kim, Yoonmyung,Lee, Beom Hee,Ko, Tae-Sung,Kim, Gu-Hwan,Choi, Jin-Ho,Yoo, Han-Wook Korean Society of Medical Genetics and Genomics 2016 대한의학유전학회지 Vol.13 No.1
Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation, and multiple hamartomas or benign tumors in the skin, brain, retina, heart, kidney, and lungs. The TSC2 gene on chromosome 16p13.3 lies adjacent to the PKD1 gene which is responsible for autosomal dominant polycystic kidney disease (MIM#173900). The TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1 CGDS, MIM#600273) is caused by deletion of both TSC2 and PKD1 gene. We recently experienced a 15 month-old boy and a 26 month-old girl with TSC2/PKD1 CGDS confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis. They showed not only typical neurologic manifestations of TSC such as epilepsy, subependymal nodules, and subcortical tubers, but also polycystic kidney disease. The contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with enlarged polycystic kidneys and TSC. MLPA analysis is a useful method for the genetic confirmation of TSC2/PKD1 CGDS.
Lee, Changwoo,Kang, Dowoo,Oh, Seungju,Ham, Eungu,Cho, Yongsun 한국재난정보학회 2016 한국재난정보학회 논문집 Vol.12 No.1
국민안전처 통계에 따르면 최근 3년간 우리나라 음식점에서 발생한 화재는 2천 4백여 건으로 169명에 이르는 인명피해(부상)와 88억 원이 넘는 재산피해를 냈으며 식용유 때문에 발생한 화재는 700건에 달한다. 이에 상업용 주방자동소화장치를 주거시설을 제외한 상업용 시설의 모든 주방에 설치하는 것이 국민의 안전을 위해 바람직하지만, 이는 경제적 부담을 가중할 수 있으므로, 상대적으로 많은 인명과 재산피해가 예상되는 곳부터 우선 적용되어야 한다. 이를 위해서는 특정 소방대상물의 주방에 수준으로 적용하고 향후 그 설치대상을 점차 확대 적용하는 것이 바람직하다고 보인다. According to the statistics released by Ministry of Public Safety and Security, the number of restaurant fires in Korea reached around 2,400 and 169 damages of human life and damages to property was approximately over $8.8 billion for recent 3 years. It could be desirable having automatic commercial fire-extinguishing equipment at commercial facilities excluding housing facilities for the safety, applying at the place first where it has been more risky and expected fire can be occurred relatively because economical burden can be accelerated. In order to do this, adjust its level to meet the same level of the kitchen for 'Specific Target for Fire Fighting' that "gas leak alarm" has be equipped relevant regulations and it is considered and reasonable to expand the limit of application gradually.
Insook Jeong,Eungu Kang,Ja Hyang Cho,Gu-Hwan Kim,Beom Hee Lee,Jin-Ho Choi,Han-Wook Yoo 대한소아내분비학회 2016 Annals of Pediatirc Endocrinology & Metabolism Vol.21 No.1
Purpose: Noonan syndrome (NS) is characterized by short stature, heart anomalies, developmental delays, dysmorphic features, cryptorchidism, and coagulation defects. Several studies reported the short-term effects of recombinant human growth hormone (rhGH) treatment on the improvement of height. This study was performed to evaluate the long-term efficacy of rhGH in children with NS in Korea. Methods: This study included 15 prepubertal NS children who received rhGH subcutaneously at a dose of 50–75 μg/kg/day for 6 days a week for at least >3 years. Preand posttreatment data, such as height, weight, bone age, insulin-like growth factor 1 (IGF-1), and IGF binding protein 3 (IGFBP-3) levels, were collected every 6 months. Results: Chronologic age and bone age at the start of treatment were 7.97±1.81 and 5.09±2.12 years, respectively. Height standard deviation score (SDS) was increased from –2.64±0.64 to –1.54±1.24 years after 3 years (P<0.001). Serum IGF-1 SDS levels were elevated from –1.28±1.03 to –0.10±0.94 (P<0.001). Height SDS was more increased in subjects without PTPN11 mutations compared to those with mutations after 3 years (P=0.012). However, the other parameters, including bone age, IGF-1 SDS, and IGFBP-3 SDS, were not significantly different between patients with and without PTPN11 mutations. Conclusion: Although this study included a relatively small number of patients, long-term rhGH therapy in NS patients was safe and effective at improving height, growth velocity, and serum IGF-1 levels, in accordance with previous studies. However, the meticulous monitoring of potential adverse events is still needed because of high dose of rhGH and preexisting hyperactivity of RAS-MAPK pathway. Patients with PTPN11 mutations demonstrated a decreased response to rhGH therapy compared to those without mutations.