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Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation

  • Bak, Na Ry;Song, Eun Song;Yang, Eun Mi;Kim, Chan Jong
    • Childhood Kidney Diseases
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    • v.23 no.2
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    • pp.111-115
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    • 2019
  • Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1. Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological features of rickets. We aimed to present the VDDR1A case with a genetic study of CYP27B1. The 14-month-old boy was admitted to the hospital due to a seizure. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone (PTH), 25(OH) vitamin D, and 1,25(OH)2 vitamin D values were 5.1 mg/dL, 3.7 mg/dL, 705 IU/L, 429 pg/mL, 24.9 ng/mL, and 8.8 pg/mL, respectively. Radiological study showed cupping and fraying of the distal ulna and radius. The molecular genetic study revealed that the patient had a compound heterozygous mutation, $Phe443Profs^*24$ and c.589+1G>A, in CYP27B1. Genetic analysis of the family members presented that the mother was heterozygous for the mutation c.589+1G>A, and that the father was heterozygous for $Phe443Profs^*24$. The patient was treated with calcium lactate and calcitriol. Until now, six Korean patients with VDDR1A have been studied. Including this case, Korean patients with VDDR1A were found to have only three different mutations in 14 alleles, indicating that the mutation in the CYP27B1 gene is homogeneous in the Korean population.

Clinical Features and Incidence of Skin Cancer and Precancerous Lesions after Solid Organ Transplantation: A 22-year Single-center Experience in Korea (고형 장기 이식 후 발생하는 피부암과 피부암 전구증으로 최근 22년간 단일 기관을 방문한 환자들에 대한 임상 양상과 인구통계학적 고찰(1995~2017))

  • Park, Chan Seong;Park, Ji-Hye;Lee, Jong Hee;Lee, Dong-Youn;Lee, Joo-Heung;Yang, Jun-Mo
    • Korean journal of dermatology
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    • v.56 no.10
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    • pp.603-608
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    • 2018
  • Background: It is well known that skin cancer and precancerous disease develop more frequently in patients undergoing solid organ transplantation than normal populations in the normal population in Western countries. However, to date, the clinical and demographic features of skin cancer and precancerous disease after solid organ transplantation are not established in Asian countries. We evaluated the clinical and demographic features of primary skin cancer and precancerous lesions after solid organ transplantation and compared these with the trends observed in Western countries. Methods: We retrospectively reviewed the medical records of patients who underwent kidney, liver, heart, and lung transplantation between January 1995 and April 2017 and who developed skin cancer or precancerous lesions after transplantation. The various lesions observed were squamous and basal cell carcinoma, malignant melanoma, Kaposi sarcoma, Bowen's disease, and actinic keratosis. Results: We identified 4604 patients who received organ transplant. The mean age of patients was 44.8 years (male, 64.6%; female, 35.4%), and the sum of the person-year of observation time was 31,024 person-years. The incidence rate per 100,000 person-years was 29.01 for squamous cell carcinoma, 19.34 for basal cell carcinoma, 6.45 for malignant melanoma 3.22 for Kaposi sarcoma, and 74.17 for Bowen's disease and actinic keratosis. The incidence rate per 100,000 person-years was the highest in patients undergoing heart transplantation (610.50), followed by those who underwent kidney transplantation (136.54) and liver transplantation (90.15). Koreans showed lower incidence rates than those observed in Westerners. Conclusion: The incidence of primary skin cancer and precancerous lesions after solid organ transplantation in Koreans was lower than that in Westerners. Squamous cell carcinoma was the most common skin cancer in patients undergoing solid organ transplantation and the incidence rate of skin cancer and precancerous lesions was the highest in patients undergoing heart transplantation.

Expression of the Antioxidant Enzyme and Apoptosis Genes in In vitro Maturation/In vitro Fertilization Porcine Embryos

  • Jang, H.Y.;Kong, H.S.;Lee, S.S.;Choi, K.D.;Jeon, G.J.;Yang, B.K.;Lee, C.K.;Lee, H.K
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.1
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    • pp.33-38
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    • 2004
  • This study was aimed at testing the gene expression of antioxidant enzymes and apoptosis genes for in vitro culture in porcine embryos produced by in vitro maturation/in vitro fertilization (IVM/IVF). Pocine preimplantation embryos obtainted from IVM/IVF can be successfully culture in vitro, but they are delayed or stop to develop at specific developmental stage. Many factors such as reactive oxygen species and apoptosis in an IVM/IVF system followed by in vitro culture influence the rate of production of viable blastocysts. Porcine embryos derived from IVM/IVF were cultured in the atmosphere of 5% $CO_2$ and 20% $O_2$ at $38.5^{\circ}C$ in NCSU23 medium. The patterns of gene expression for antioxidant enzymes and apoptosis genes during in vitro culture in pocine IVM/IVF embryos were examined by the modified semi-quantitative single cell reverse transcriptase-polymerase chain reaction (RT-PCR). Porcine embryos produced by in vitro procedures were expressed mRNAs for CuZn-SOD, GAPDH and GPX, whereas transcripts for Mn-SOD and catalase were not detected at any developmental stages. Expression of caspase-3 mRNA was detected at 2 cell, 8 cell 16 cell and blastocyst, but p53 mRNA was not detected at any stages. The fas transcripts was only detected in blastocyst stage. These results suggest that various antioxidant enzymes and apoptosis genes play crucial roles in vitro culture of porcine IVM/IVF embryos.

Cold Lesions in $^{99m}Tc$-MDP Bone Scans of Patients with Skeletal Metastases ($^{99m}Tc$-MDP 골스캔에서 냉소로 나타난 전이 암의 분석)

  • Choi, C.W.;Yang, H.I.;Bae, S.K.;Lee, D.S.;Sohn, I.;Chung, J.K.;Lee, M.C.;Koh, C.S.
    • The Korean Journal of Nuclear Medicine
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    • v.27 no.1
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    • pp.98-103
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    • 1993
  • The present study was purposed to evaluate the incidence and the characteristics of metastatic "cold" lesions in $^{99m}Tc$-MDP bone scans of adult patients with solid malignancies. There were 29 cold lesions in 24 patients. The incidence of cold lesions was about 1% of total cases of bone scans for the patients with malignancy, or 2.5% of cases with bone metastases. Th primary sites of malignancies were lung (four cases), uterine cervix (three cases), kidney, nasopharynx, thyroid, urinary bladder, prostate, lymphoma (two cases each other), liver, breast and others (one case each other). But the relative incidence of cold lesion in lung cancer and breast cancer was low. The most frequent site of cold lesion was spine, and pelvis, skull and rib were followed. The incidence of cold lesion was related to the regional incidence of bone metastases. The size of the cold lesions was greater than that of the hot. There were six cases of single cold lesion without any other abnormalities and two cases of cold lesion which were initially hot. So it should be considered that bone metastases might be presented as cold lesions in bone scan.

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Pathogenic Staphylococcus epidermidis isolated from cultured fingerling of sea bass, Lateolabrax japonicus, in Korea (남해안 양식산 농어, Lateoabrax japonicus 치어에서 분리한 병원성 Staphylococcus epidermidis에 관한 연구)

  • Cha, Yong-Baeg;Yang, Han-Choon;Choi, Sang-Duk;Cho, Jae-Kwon
    • Journal of fish pathology
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    • v.10 no.1
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    • pp.1-14
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    • 1997
  • Major object of this study was to investigate the causative organism of th e diseased cultured fingerling of sea bass, L japonicus. The experimental results are summarized as follows ; Staphylococcus epidermidis, isolated from the liver, kidney, spleen and brain, was considered to be the causative organism. External symptoms of this disease were congestion and hemorrhages in eyes. Anatomical symptoms were hemorrhage of brain, congestion of liver, and slight swelling of kidney and spleen. Growth of the isolates was good on BHIA, HIA and Staphylococcus No. 110. The growth occurred at a range(optimum) of $10\sim45^{\circ}C(35\sim40^{\circ}C)$, 0~9% (1~3%) of NaCl concentration and pH 4~10(8). DNase and coagulase production of all isolated strains were nagative, but was positive in hemolysis. Urease was positive reaction, and novobiocin resistance was nagative. Acid was produced anaerobically from glucose and maltose. Acid was produced aerobically from glucose, galactose, sucrose, maltose and dextrine. But gas was not produced from any carbohydrates. When the isolated strain was injected intramuscularly on fingerling of sea bass, L japonicus, it had virulence at $1.7{\times}10^{10}$ viable cells/$m\ell$ for all fish examined but no virulence at $1.7{\times}10^4$ viable cells/$m\ell$. Bacitracin, Erythromycin and Nofloxacin were observed as bacteriostatic agents to the strain, but Colistin, Gentamicin and Nalidixic acid were not. There were remarkable congestion of the brain, regressive necrosis of the liver, and showed necrosis of the epithelial cells of renal tubules in kidney tissues.

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A Comparative Study of the Oriental and the Occidental Medical Literature on the Etiologies & Treatments for Palmoplantar Hyperhidrosis (수족한(手足汗)의 원인(原因)과 치료법(治療法)에 대한 동(東).서의학적(西醫學的) 고찰(考察))

  • Ko, Young-Chul;Shin, Jo-Young
    • The Journal of Internal Korean Medicine
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    • v.18 no.2
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    • pp.268-295
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    • 1997
  • Sweating is natural phenomenon necessary for the regulation of an individual's body-temperature. The secretion of sweat is mediated by a portion of our vegetative nervous system(the sympathetic nervous system). In some people, this system is working at a very high activity level, far higher than needed to keep a constant temperature. This condition is referred to as hyperhidrosis. Especially excessive sweating of the hands and the feet is palmoplantar hyperhidrosis or volar hyperhidrosis. This is by far the most distressing condition. It was founded that the first important cause of this was emotional factor. The hands are much more exposed in social and prefessional activities than any other part of our body. Many individuals with palmoplantar hyperhidrosis are limited in their choice of proffession, because unable to manipulate materials sensitive to humidity or reluctant to shake hands; some patients arrive to the point to avoid social contact. The occidental medical treatments for palmoplantar hyperhidrosis include application of topical agents(chemical antiperspirants such as aluminum chloride), iontophoresis(treatment with electrical current), or surgery(thoracic sympathectomy). It was reported that the most effective treatment was thoracic sympathectomy. So this study was started to find the easy and effective oriental medical treatments against the occidental medical treatments through the oriental medical literature. The occidental medical idea for palmoplantar hyperhidrosis is only limited in neurologic system, so surgery is the best treatment. But the oriental medical idea for palmoplantar hyperhidrosis is much wider, so the oriental medical causes and treatments for this are able to be veriety. And the oriental medical teatment is freely in treating the patients of palmoplantar hyperhidrosis, because entire idea including pulse, facial color, mental condition, constitution and other symptom exists in the oriental medicine. The results of a bibliographic study of causes and treatments for palmoplantar are as follows; 1. The main causes of pa1moplantar hyperhidrosis are heat in the stomach, damp-heat in the spleen and the stomach, insufficiency of the spleen-qi and the stomach-qi, deficiency of the spleen-yin and the stomach-yin, and the others are the stomach-cold syndrome, stasis of blood and dyspepsia in the stomach, disorder of the liver-qi, deficiency of the heart-yin and the kidney-yin, deficiency of the heart-yang and the kidney-yang, stagnated heat in the liver and the spleen, the lung channel-heat etc. 2. The main methods of medical treatments for palmoplantar hyperhidrosis are clearing out the stomach-heat, eliminating dampness and heat in the spleen and the stomach, invigorating the spleen-qi and the stomach-qi, reinforcing the spleen-yin and the stomach-yin, warming the stomach, relaxing the liver and alleviating of mental depression and tonifying the heart and the kidney etc. 3. The main prescriptions of palmoplantar hyperhidrosis are Taesihotang, Palmultang-kakam, Samyeongbaechusan, Chongbisan, Sasammaekmundongtang, the others are Leejungtang, Hwangkikonjungtang, Seungkitang, Boyumtang, Baekhotang, Chongsimyonjayum, Moyrosan, etc. 4. Local medicine for external use are liquid after boiling alum in water for about 1 or 2 hours, liquid after boiling alum and pueraria root in water and liquid after boiling stragalus root, pueraria root, ledebouriella root and schizonepeta in water, etc. 5. The methods of acupuncture therapy include invigorating Bokyru, Yumkuk and purgating Hapkouk, or invigorating Bokyru, Kihae and purgating Hapkouk, or steadying Hapkouk, Nokung.

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Molecular Characterization and Expression Pattern of Gene IGFBP-5 in the Cashmere Goat (Capra hircus)

  • Wang, X.J.;Shi, J.J.;Yang, J.F.;Liang, Y.;Wang, Y.F.;Wu, M.L.;Li, S.Y.;Guo, X.D.;Wang, Z.G.;Liu, D.J.
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.5
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    • pp.606-612
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    • 2012
  • Insulin-like growth factor-binding protein-5 (IGFBP-5) is one of the six members of IGFBP family, important for cell growth, apoptosis and other IGF-stimulated signaling pathways. In order to explore the significance of IGFBP-5 in cells of the Inner Mongolian Cashmere goat (Capra hircus), IGFBP-5 gene complementary DNA (cDNA) was amplified by reverse transcription polymerase chain reaction (RT-PCR) from the animal's fetal fibroblasts and tissue-specific expression analysis was performed by semi-quantitative RT-PCR. The gene is 816 base pairs (bp) in length and includes the complete open reading frame, encoding 271 amino acids (GenBank accession number JF720883). The full cDNA nucleotide sequence has a 99% identity with sheep, 98% with cattle and 95% with human. The amino acids sequence shares identity with 99%, 99% and 99%, respectively. The bioinformatics analysis showed that IGFBP-5 has an insulin growth factor-binding protein homologues (IB) domain and a thyroglobulin type-1 (TY) domain, four protein kinase C phosphorylation sites, five casein kinase II phosphorylation sites, three prenyl group binding sites (CaaX box). The IGFBP-5 gene was expressed in all the tested tissues including testis, brain, liver, lung, mammary gland, spleen, and kidney, suggesting that IGFBP-5 plays an important role in goat cells.

Study about Etiologic Classification and Commonly Used Meridians in Acupuncture Therapy on Headache by Considering through the Oriental Literature (두통(頭痛)의 병인(病因) 분류(分類)와 침구치료(鍼灸治療)에 대한 문헌적(文獻的) 고찰(考察))

  • Kim Sung-Uk;Gu Byung-Su
    • Journal of Oriental Neuropsychiatry
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    • v.11 no.2
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    • pp.189-200
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    • 2000
  • Object : The purpose of this study is assistant to medical treatment for patient, who suffers from headache, by classifing etiologies of headache and investigating using meridian and acupuncture point.Method : By considering through the oriental literature, we investigated etiologies and frequency of using meridian and acupuncture point on headache.Result:1. The Oriental etiologies of headache is classified in 'wind(風)', 'hot and feverish(熱)', 'humidity(濕)', 'cold(寒)', 'defidiency of qi(氣處)', 'deficiency of blood(血虛)', 'extravasated blood(瘀血)', 'asthenia of kidney(賢處)', 'anger by depression(鬱怒)', 'Damhwa(痰火)'2. The frequently used meridians on headache are followings : the 1st is Choksoyang-Tam-Kyong(足少陽膽經), the 2nd Choktaeyang-Pabggwabg-Kyong(足太陽膀胱經), the 3rd Tok-maek(督脈), and the 4th Chokyangmyong Wi-Kyong(足陽明胃經).3. The frequently used acupuncture points on headache are followings : the 1st is paek'oe(百會), the 2nd Hapkok(合谷) and the 3rd P'ungji(風池).Conclusion:1. The books about treatment of headache by using acupuncture are The Yellow Emperor's Classic on internal Medicine(黃帝內經) and Gab-UI-Kyoung(甲乙經) and so on.2. In The Yellow Emperor's Classic on Internal Medicine(黃帝內經), they mainly used treatment by following the stream of meridian on headache.3. After Gab-U1-Kyoung(甲乙經), they suggested specialized acupunctre point.4. Three Yang meridians(三陽經) that has many acupuncture point located on head area, are related to medical treatment on headache.

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Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene (HPRT 유전자 돌연변이에 의한 HPRT 부분결핍증 1례)

  • Yang Ju-Hee;Park Min-Hyuk;Kim Deok-Soo;Shim Jae-Won;Shim Jung-Yeon;Jung Hye-Lim;Yoo Han-Wook;Park Moon-Soo
    • Childhood Kidney Diseases
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    • v.7 no.1
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    • pp.86-90
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    • 2003
  • An 8-month-old male infant presented with persistent, gross, orange-colored crystals in his urine. His physical and neurological development was normal. Laboratory study showed hyperuricemia, hyperuricosuria and urate crystaluria. He was determined to have partial hypoxanthine-guanine phosphoribosyl transferase(HPRT) deficiency. The molecular genetic analysis revealed a missense mutation in the patient's HPRT gene. By sequencing the patient's cDNA, we identified an A-to-G transition at nucleotide 239, resulting in the replacement of Aspartate with Glycine at amino acid 80 in the HPRT. To our knowledge, this mutation has not previously been reported. Our patient is now being placed on allopurinol therapy, and has had no problem since. Partial HPRT deficiency has been known to cause recurrent acute renal failure without the phenotypic features of Lesch-Nyhan syndrome. Therefore, we think that early diagnosis and treatment are very crucial in preventing acute renal failure.

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The Experimental Study on the Anti-Stress Effects of Kungchihwadamjeun(芎梔化痰煎) (궁치화담전(芎梔化痰煎)의 항(抗)스트레스 효과(效果)에 대한 실험적(實驗的) 연구(硏究))

  • Park, Doo-Byoung;Park, Se-Ki;Kim, Dong-Woo;Han, Yang-Hee;Jun, Chan-Yong;Park, Chong-Hyeong
    • The Journal of Korean Medicine
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    • v.20 no.1 s.37
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    • pp.172-184
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    • 1999
  • This study was aimed to evaluate the anti-stress effect of Kungchihwadamjeun on the body weight. organs weight, S- GOT. S-GPT. lipid peroxidase in organs and contents of cathecholamine in brain of rats stressed by immobilization. The main results obtained were summarized as follow 1. The body weights increased in the group treated with Kungchihwadamjeun of rats stressed by immobilization compared with in the group treated with non Kungchihwadamjeun. 2. The weight of the spleen. kidney. pancreas, thymus and heart increased in the group treated with Kungchihwadamjeun of rats stressed by immobilization compared with in the group treated with non Kungchihwadamjeun. 3. The contents of serum GOT GPT decreased in the group treated with Kungchihwadamjeun of rats stressed by immobilization compared with in the group treated with non Kungchihwadamjeun 4. The lipid peroxidase in liver decreased in the group treated with Kungchihwadamjeun of rats stressed by immobilization compared with in the group treated with non Kungchihwadamjeun. 5. The contents of norepinephrine and serotonine in brain decreased in the group treated with Kungchihwadamjeun of rats stressed by immobilization compared with in the group treated with non Kungchihwadamjeun, but epinephrine and dopamine in brain increased. According to the above results, this experiments concluded that Kungchihwadamjeun had significant effects in reducing stress.

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