• Clinical and Experimental Pediatrics
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• 제54권1호
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• pp.36-39
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• 2011

Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tubular disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism. There have been several case reports of BS complicated by focal segmental glomerulosclerosis (FSGS). Here, we have reported the case of a BS patient who developed FSGS and subsequent end-stage renal disease (ESRD) and provided a brief literature review. The patient presented with classic BS at 3 months of age and developed proteinuria at 7 years. Renal biopsy performed at 11 years of age revealed a FSGS perihilar variant. Hemodialysis was initiated at 11 years of age, and kidney transplantation was performed at 16 years of age. The post-transplantation course has been uneventful for more than 3 years with complete disappearance of BS without the recurrence of FSGS. Genetic study revealed a homozygous p.Trp(TGG)610Stop(TGA) mutation in the CLCNKB gene. In summary, BS may be complicated by secondary FSGS due to the adaptive response to chronic salt-losing nephropathy, and FSGS may progress to ESRD in some patients. Renal transplantation in patients with BS and ESRD results in complete remission of BS.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권6호
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• pp.501-510
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• 2020

Purpose: To develop a probability-based differential diagnosis for pediatric acute liver failure (PALF) based on age and socioeconomic status of the country of origin. Methods: Comprehensive literature search using PubMed, EMBASE, and SCOPUS databases was performed. Children 0-22 years of age who met PALF registry criteria were included. Articles included >10 children, and could not be a case report, review article, or editorial. No language filter was utilized, but an English abstract was required. Etiology of PALF, age of child, and country of origin was extracted from included articles. Results: 32 full text articles were reviewed in detail; 2,982 children were included. The top diagnosis of PALF in developed countries was acetaminophen toxicity (9.24%; 95% CredI 7.99-10.6), whereas in developing countries it was Hepatitis A (28.9%; 95% CredI 26.3-31.7). In developed countries, the leading diagnosis of PALF in children aged <1 year was metabolic disorder (17.2%; 95% CredI 10.3-25.5), whereas in developing countries it was unspecified infection (39.3%; CredI 27.6-51.8). In developed countries, the leading diagnosis in children aged >1 year was Non-A-B-C Hepatitis (8.18%; CredI 5.28-11.7), whereas in developing countries it was Hepatitis A (32.4%; CredI 28.6-36.3). Conclusion: The leading causes of PALF in children aged 0-22 years differ depending on the age and developmental status of their country of origin, suggesting that these factors must be considered in the evaluation of children with PALF.

• 근관절건강학회지
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• 제8권2호
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• pp.287-301
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• 2001

Osteoporosis is a age-related metabolic disorder. Currently there is no cure, but there are measures that can prevent or deter the development of osteoporosis. Futhermore lifestyle among risk factors of osteoporosis may be modifiable. Osteoporotic preventive health promotion behavior may be more effective at early adult when they make formation of peak bone mass. The purpose of this study is to identify the demographic variables, life-style and level of concern about osteohealth-related factors according to the health promotion behavior among university female students. The result are following: 1. The highest level of concern about osteoporosis-related factor is sufficient sleeping. 2. The highest level of dietary about osteoporosis-related factors are vegetable and fruit. 3. Level of concern about osteoporosis-related factors according to demographic variables are not significantly different, but dietary were significantly different in age, height and income. 4. Level of concern about osteoporosis-related factors according to lifestyle are significantly different in weekly hour of exercise and weight control, and dietary are significantly different in milk intake at elementary school and present. 5. Level of concern about osteoporosis-related factors have correlated positively with dietary. University and College female students who participated in this study have concerned middle at calcium intake and exercise, but two variables are significantly different in lifestyle and dietary. Because of two variables are modifiable, it should be regarded importantly in nursing domain. We suppose that preventive education of osteoporosis is necessary to reach peak bone mass and to maintain bone mass consistently among the University and College female students.

• 대한소아치과학회지
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• 제29권2호
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• pp.237-242
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• 2002

Lowe 증후군 또는 안뇌신증후군(oculocerebrorenal syndrome)은 X-염색체와 관련된 유전성 질환으로 반성열성유전양상을 나타낸다. 선천성 백내장과 녹내장 등의 안 증상, 근긴장 저하 건반사감소 등의 근신경계 증상, 신장 기능이상이 가장 특징적인 임상 증상이며, 이외에도 정신 지체, 성장지연, 전두부 융기, 가늘고 성긴 모발, 돌출된 귀, 골질환 등이 발생할 수 있다. Lowe 증후군 환자는 정신지체로 인해 치과치료시 전신마취하에서의 처치가 요구되나, 대사성 산증, 악성고열의 발생위험과 사용약제에 의한 부작용 등이 위험요소로 작용할 수 있으므로, 필요한 경우 내과 또는 소아과 의료진이 참여된 협진체제 하에서 가능한 짧은 시간 진행되어야 한다. 이러한 치과적 처치의 어려움으로 Lowe 증후군 환자에서 치과질환의 예방이 좀더 강조되어야 하면, 이를 위해 보호자의 주위의 적극적 관리가 요구된다.

• 한국환경성돌연변이발암원학회지
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• 제22권1호
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• pp.39-46
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• 2002

Obesity is a complex metabolic disorder with a strong genetic component. There are many candidate genes for obesity and its related phenotypes. We studied genetic variations between Korean obese and lean groups. Polymorphisms investigated were the Msp I polymorphism of the $\alpha$$_{2A}$-adrenergic receptor ($\alpha$$_{2A}$-AR) gene, the Mnl I polymorphism of the $\alpha$$_2$-adrenergic receptor ($\alpha$$_2$-AR) gene, the BstO I polymorphism of the $\beta$$_3$-adrenergic receptor ($\beta$$_3$-AR) gene, the Pml I polymorphism of the lamin A/C (LMNA) gene, the Hga I polymorphism of the clearance receptor (NPRC) gene, the Msp I polymorphism of the leptin gene, BclI polymorphism of the uncoupling protein 1 (UCPI) gene and the Hha I polymorphism of the fatty acid binding protein 2 (FABP2) gene. Among these genetic markers, Pml I polymorphism at the LMNA gene and Bcl I polymorphism at the UCP1 gene were significantly associated with obesity. However, further studies are required whether thease findings are reproduced in large population, although two polymorphisms might be useful as genetic markers in the ethiology of obesity in Korean population.ion.

• 대한소아치과학회지
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• 제25권3호
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• pp.555-561
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• 1998

1. Hypophosphatasia는 골조직 및 치아조직의 비정상적인 석회화를 나타내는 대사장애로, 특징적 구강내 소견 인 유치의 조기탈락 양상으로 치과에서 조기진단이 가능하다. 2. 본 증례에서 상악궁 확장을 동반한 의치 제작으로 심미적, 기능적으로 양호한 결과를 얻었으며, 영구치열기 까지 장기적 관찰 및 치료가 필요할 것으로 사료된다.

• 한방재활의학과학회지
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• 제20권2호
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• pp.35-50
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• 2010

Objectives : In order to investigate the effects of So-yangin Biman-bang(here in after referred to BM) on the obese gene and obese inhibitory, C57BL/6 mice were distinctively induced by high fat diet. Methods : C57BL/6 mice were divided into four groups(normal, high fat diet with control, high fat diet with Reductil(here in after referred to RDT), high fat diet with BM extract) and have been fed for 8 weeks. Through observing the process, the weight change of the adipocytes in body and liver, total cholesterol, LDL-cholesterol, HDL-cholesterol, triglyceride, glucose, leptin change in the serum, the expression of ${\beta}3AR$ and leptin gene in 3T3-L1 cell and primary adipocyte cell. Results : The following results have been found in this study. 1. Losing weight have significantly been shown. 2. The weight change of the body adipocyte and liver have been decreased but no significance has been found. 3. With close observation on the change of blood, HDL-cholesterol has positively been increased in numbers but the level of glucose, LDL-cholesterol, triglyceride have distinctively been decreased. 4. The manifestation of ${\beta}3AR$ in 3T3-L1 cell and primary adipocyte cell have shown a definite increase in numbers but the manifestation of leptin has shown certain decrease in its amount. Conclusions : As results of this, So-yangin Biman-bang is thought to be effective in metabolic syndrom and lipid metabolism disorder that can possibly be occurred by obesity control and treatment. The clinical research will be needed in order to apply to So-yangin constitution in the future.

• 한국발생생물학회지:발생과생식
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• 제21권4호
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• pp.441-448
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• 2017

Bisphenol-A(BPA) is a member of alkylphenol family, and shows adverse effects including reduced fertility, reproductive tract abnormalities, metabolic disorder, cancer induction, neurotoxicity and immunotoxicity. In the present study, we conducted Hershberger assay to evaluate whether the two candidates to replace BPA have androgenic or antiandrogenic activity. The assay was carried out using immature castrated Sprague-Dawley male rats. After 7 days of the surgery, testosterone propionate (TP, 0.4 mg/kg/day) and test materials (low dose, 40 mg/kg/day; high dose, 400 mg/kg/day) were administered for 10 consecutive days by subcutaneous (s.c.) injection and oral gavage, respectively. Test materials were BPA, isosorbide (ISO) and cyclohexanedimethanol (CHDM). The rats were necropsied, and then the weights of five androgen-dependent tissues [ventral prostate, seminal vesicle, levator ani-bulbocavernosus (LABC) muscle, paired Cowper's glands, and glans penis] and three androgen-insensitive tissues (kidney, spleen and liver) were measured. All test materials including BPA did not exhibit any androgenic activity in the assay. On the contrary, antiandrogen-like activities were found in all test groups, and the order of the intensity was CHDM > BPA > ISO in the five androgen-sensitive tissues. There was no statistical difference between low dose treatment and high dose treatment of BPA group as well as ISO group. In CHDM group, high dose treatment exhibited most severe weight reduction in all measured tissues. There was no statistical difference in androgen-insensitive tissue measurements, except BPA groups. Since the effects of ISO treatment on the accessory sex organs were much less or not present at all when compared to those of BPA, ISO could be a strong candidate to replace BPA. CHDM treatment brought most severe weight reduction in all of androgen-sensitive tissues, so this material should be excluded for further screening of BPA substitute selection.

• 한국발생생물학회지:발생과생식
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• 제24권3호
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• pp.197-205
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• 2020

Diabetes mellitus is a common heterogeneous metabolic disorder, characterized by deposition of extracellular matrix, oxidative stress, and vascular dysfunction, thereby leading to gradual loss of function in multiple organs. However, little attention has been paid to gene expression changes in the lung under hyperglycemic conditions. In this study, we found that diabetes inuced histological changes in the lung of streptozotocin-induced diabetic mice. Global gene expression profiling revealed a set of genes that are up- and down-regulated in the lung of diabetic mice. Among these, expression of Amigo2, Adrb2, and Zbtb16 were confirmed at the transcript level to correlate significantly with hyperglycemia in the lung. We further evaluated the effect of human umbilical cord-derived perivascular stem cells (PVCs) on these gene expression in the lung of diabetic mice. Our results show that administration of PVC-conditioned medium significantly suppressed Amig2, Adrb2, and Zbtb16 upregulation in these mice, suggesting that these genes may be useful indicators of lung injury during hyperglycemia. Furthermore, PVCs offer a promising alternative cell therapy for treating diabetic complications via regulation of gene expression.

• Archives of Plastic Surgery
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• 제34권4호
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• pp.528-530
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• 2007

Purpose: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of non-syndromic HPE are usually accepted as etiology. The consequences of prechordal mesoderm defect are varying degrees of deficit of midline facial development, especially the median nasal process(premaxilla), and incomplete morphogenesis of the forebrain. We experienced a case of lobar HPE with complete cleft lip and palate. Methods: A female newborn infant was born at $38^{+6}$ weeks' gestational age via NSVD. The infant's birth weight was 3.6 kg, height 52 cm, and head circumference 32.5 cm, showing microcephaly, flat nose, median complete cleft lip & palate, and hypotelorism, along with defects of midfacial development including losses of premaxilla, philtrum, nasal septum, and columella. Results: There were no specific findings noted from the head and neck X-ray and tests for endocrine and metabolic disorders, but clinical characteristics of midface and dysgenesis corpus callosum on brain MRI were seen, so that this case was diagnosed with HPE. Conclusion: HPE is divided into three categories of alobar, semilobar, and lobar prosencephaly according to the degree of cerebral hemisphere separation. Assesment of patient's brain abnormality and malformation is essential in determining the extent and benefit of surgical intervention. This case was included in the lobar type HPE which shows relatively good prognosis compared with other types and reconstruction of median complete cleft lip & palate and midfacial defects will be performed.