• Clinical and Experimental Pediatrics
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• 제49권1호
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• pp.82-86
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• 2006

목 적: 1990년대 초반부터 시행된 학교집단소변검사에서는 단독혈뇨가 가장 많이 발견되고 있으나, 이러한 환아들의 장기적 예후나 추가적검사의 필요성에 대해서는 아직 논란이 있다. 이에 저자들은 이들 환아의 추적 관찰결과를 통해 예후와 필요한 추적검사의 정도를 알아보고자 하였다. 방 법: 1990년 8월부터 2004년 2월까지 학교신체검사에서 무증상적 혈뇨가 발견되어 서울아산병원 소아과에 의뢰된 환아 중 단백뇨(>250 mg/일)나 다른 신염의 증거, 선천성신기형, 신기능의 저하(크레아티닌청소율 <85 mL/분/$1.73m^2$)가 없는 단독 혈뇨 환아들을 대상으로 경과를 관찰하였다. 추적 관찰은 6개월마다 요검사와 혈청 크레아티닌, 단백, 알부민을 측정하였고 요검사 상 단백뇨가 나온 환아에서 24시간 요단백을 측정하여 500mg/일 이상인 경우 신생검을 시행하였다. 결 과: 총 331명의 경과를 관찰하였으며 남자는 157명, 여자는 174명이었다. 평균 나이는 $9.9{\pm}2.3$세(7-15세)였고, 평균 추적 관찰기간은 $2.2{\pm}1.6$년(1-10년)이었다. 경과관찰 중 혈뇨가 소실된 환아는 75명(22.7%)으로 평균 소실 기간은 $2.6{\pm}1.7$년(1-8년)이었으며, 나머지 256명(77.3%)에서는 혈뇨가 지속되었고 그 중 8명(2.4%)에서 유의한 단백뇨 증가를 보였다. 이들 8명 중 4명은 경과관찰 중 단백뇨가 다시 감소하여 추가적인 검사 없이 경과관찰 중이며, 나머지 4명에서는 단백뇨가 지속되어 신생검을 시행하였다. 이중 2명에서는 특이 소견이 발견되지 않았고, 나머지 2명은 경도의 IgA신병증으로 진단되었다. 경과관찰 중 신기능 저하나 고혈압을 보인 환아는 없었다. 결 론: 학교집단소변검사에서 발견된 단독 혈뇨 환아의 임상 경과는 양호하므로 신생검 등의 침습적검사는 불필요하며 정기적인 요검사와 혈액검사로 환아의 경과를 관찰하여도 충분할 것으로 판단된다.

• 대한유전성대사질환학회지
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• 제15권2호
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• pp.98-100
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• 2015

경쇄 acyl-CoA 탈수소효소 결핍증(short chain acyl-CoA dehydrongenase deficiency, SCAD)은 미토콘드리아에 존재하는 효소 중 하나인 경쇄 acyl-CoA 탈수소효소(short chain acyl-CoA dehydrongenase, SCAD)의 결핍으로 인하여 지방산 산화의 장애를 초래하는 대사질환이다. 이 질환의 임상증상은 성장 부전, 대사성 산증, 저혈당, 발달 지연, 발작 및 신경 근육 증상, 근력 저하 등 매우 다양하다. 저자들은 무증상 신생아에서 신생아 선별검사를 통해 혈청 C4-butyrylcarnitine이 증가하고 소변의 ethylmalonic acid가 증가된 소견이 관찰되어 경쇄 acyl-CoA 탈수소효소 결핍증을 진단하였다. 생후 8개월까지 특이 증상 없이 추적관찰 중으로 정상적인 성장과 발달을 보였기에 이에 증례를 보고하는 바이다.

• Nano
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• 제13권10호
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• pp.1850116.1-1850116.14
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• 2018

In this study, we report the mercury ions ($Hg^{2+}$) mediated phosphorus-containing carbon dots (PCDs) as a selective "off-on" fluorescence probe for glutathione (GSH), cysteine (Cys) and homocysteine (Hcys). PCDs obtained by hydrothermal reaction are sensitive to $Hg^{2+}$ ions and its fluorescence can be significantly quenched owing to the electron transfer from the lowest unoccupied molecular orbital (LUMO) of PCDs to $Hg^{2+}$. Interestingly, the weak fluorescence of $Hg^{2+}$-mediated PCDs could be gradually recovered with the addition of GSH, Cys and Hcys. This can be attributed to the formation of $Hg^{2+}-S$ complex due to the super affinity of $Hg^{2+}$-sulfydryl bond. The formation of $Hg^{2+}-S$ complex extremely reduces the oxidation ability of $Hg^{2+}$ that inhibits the electron transfer from LUMO of PCDs to $Hg^{2+}$ and re-opens the native electron transition from LUMO to the highest occupied molecular orbital (HOMO) of PCDs. Thus, the green fluorescence of PCDs is switched on. Furthermore, the present $Hg^{2+}$-mediated PCDs assay exhibits a high selectivity for GSH, Cys and Hcy and has been successfully used to detect the total biothiols content in human urine samples.

• Journal of Periodontal and Implant Science
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• 제52권6호
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• pp.509-521
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• 2022

Purpose: Systemic health has a profound effect on dental treatment. The aim of this study was to evaluate peri-implant bone loss and health screening data to discover factors that may influence peri-implant diseases. Methods: This study analyzed the panoramic X-rays of patients undergoing health screenings at the Health Promotion Center at Seoul St. Mary's Hospital in 2018, to investigate the relationship between laboratory test results and dental data. The patients' physical data, such as height, weight, blood pressure, hematological and urine analysis data, smoking habits, number of remaining teeth, alveolar bone level, number of implants, and degree of bone loss around the implant, were analyzed for correlations. Their associations with glycated hemoglobin, glucose, blood urea nitrogen (BUN), creatinine, and severity of periodontitis were evaluated using univariate and multivariate regression analysis. Results: In total, 2,264 patients opted in for dental health examinations, of whom 752 (33.2%) had undergone dental implant treatment. These 752 patients had a total of 2,658 implants, and 129 (17.1%) had 1 or more implants with peri-implant bone loss of 2 mm or more. The number of these implants was 204 (7%). Body mass index and smoking were not correlated with peri-implant bone loss. Stepwise multivariate regression analysis revealed that the severity of periodontal bone loss (moderate bone loss: odds ratio [OR], 3.154; 95% confidence interval [CI], 1.175-8.475 and severe bone loss: OR, 7.751; 95% CI, 3.003-20) and BUN (OR, 1.082; 95% CI, 1.027-1.141) showed statistically significant predictive value. The severity of periodontitis showed greater predictive value than the biochemical parameters of blood glucose, renal function, and liver function. Conclusions: The results of this study showed that periodontal bone loss was a predictor of peri-implant bone loss, suggesting that periodontal disease should be controlled before dental treatment. Diligent maintenance care is recommended for patients with moderate to severe periodontal bone loss.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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• pp.2145-2150
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• 2015

HPV viruses are integral to the development of cervical cancer. The pathogenesis has been extensively studied. To date, numerous HPV tests and products have been developed and successfully utilized in diagnosis, treatment and prevention of cervical cancer. The HPV DNA test, when combined with other routine cervical cancer screening and diagnostic tests namely exfoliative cytology, visual inspection with acetic acid (VIA) and colposcopy has increased the detection rate of cervical cancer. HPV DNA products could also be measured in other body fluids like urine, lymph node tissue, and serum. HPV association could also be quantified by measuring other parameters like HPV mRNA, viral load, viral integration and methylation status. Vaccination against HPV has been found to decrease the incidence of cervical cancer. Further, therapeutic vaccines for cervical cancer against HPV continue to evolve. All these findings pertaining to HPV could possibly decrease the incidence of cervical cancer in the near future. This review aims to give an overview of the HPV tests and products in use and those under trial currently.

• 대한유전성대사질환학회지
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• 제14권2호
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• pp.174-177
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• 2014

단독 메틸말론산혈증은 상염색체 열성으로 유전되는 선천성 유전대사질환으로 methylmalonyl-coenzyme A mutase (MCM)의 결핍에 의해 야기된다. MCM를 코딩하는 MUT 유전자의 돌연변이가 단독 메틸말론산 혈증의 주된 원인이다. 저자들은 생후 15일 여아가 신생아 선별검사를 통하여 C3-acylcarnitine (C3)이 증가되어 있었던 증례를 경험하였다. 환아의 혈장 homocysteine은 정상이었고, 소변 methylmalonic acid는 증가되어 있어서 단독 메틸말론산혈증이 의심되었다. 환아는 단백제한식이와 함께 carnitine 보충요법을 시작하였고, 생후 3개월까지 특별한 증상없이 정상적인 성장을 하고 있다. MUT 유전자 검사를 시행하였으며, 환아는 c.323G>A와 c.1672+2T>C (IVS8 (+2)T>C 변이를 각각 이형접합자로 가지고 있었다. 이중 c.1672+2T>C (IVS8(+2)T>C)은 이전에 보고되지 않은 새로운 돌연변이로 이에 증례 보고하는 바이다.

• 대한의용생체공학회:의공학회지
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• 제29권3호
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• pp.198-204
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• 2008

Uroflowmetry is a non-invasive clinical test useful for screening benign prostatic hyperplasia(BPH) common in the aged men. The current standard way to obtain the urinary flow rate is to continuously acquire the urine weight signal proportional to volume over time. The present study proposed an alternative technique measuring pressure to overcome noise problems present in the standard weight measuring technique. Experiments were performed to simultaneously acquire both weight and pressure changes during urination of 9 normal men. Noise components were separated from volume signals converted from both weight and pressure signals based on the polynomial signal model. Signal-to-noise ratio was defined as the ratio of the energies between signal and noise components of the measured volume changes, which was 8.5 times larger in the pressure measuring technique, implying that cleaner signal could be obtained, more immune to noisy environments. When four important diagnostic parameters were estimated, excellent correlation coefficients higher than 0.99 were resulted with mean relative errors less than 5%. Therefore, the present pressure measurement seemed valid as an alternative technique for uroflowmetry.

• Clinical and Experimental Pediatrics
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• 제61권10호
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• pp.327-331
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• 2018

Purpose: The incidence of inflammatory bowel disease (IBD) is rapidly increasing, and several reports have described the renal complications of IBD. We sought to evaluate the clinical manifestations of renal complications in children with IBD in order to enable early detection and prompt treatment of the complications. Methods: We retrospectively reviewed the medical records of 456 children and adolescents aged <20 years who had been diagnosed with IBD since 2000. We analyzed patient age, sex, medication use, IBD disease activity, and clinical manifestations of renal symptoms. Results: Our study comprising 456 children with IBD included 299 boys (65.6%) and 157 girls (34.4%). The study included 346 children with Crohn disease and 110 children with ulcerative colitis. The incidence of kidney-related symptoms was 14.7%, which was significantly higher than that in normal children. We observed 26 children (38.8%) with isolated hematuria, 30 children (44.8%) with isolated proteinuria, and 11 children (16.4%) with hematuria and concomitant proteinuria. A renal biopsy was performed in 7 children. Histopathological examination revealed immunoglobulin A nephropathy in 5 children (71.4%). All children presented with mild disease and well-controlled disease activity of IBD. Conclusion: Children with IBD are more likely to show kidney-related symptoms than healthy children and adolescents are. Therefore, regular screening of urine and evaluation of renal function in such children are necessary for early detection of renal complications.

• Childhood Kidney Diseases
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• 제10권2호
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• pp.174-181
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• 2006

Purpose : To analyse the results of the renal biopsies and the clinical diagnoses of patients who had undergone percutaneous kidney biopsies in the department of pediatrics at Kyunghee University Hospital for 22 years from 1984 to 2005. Methods : We retrospectively reviewed the medical records of 1559 patients and analyzed the chief complaints that led to a renal biopsy, age, sex, histopathologic findings and diagnosis. Routine kidney biopsies were performed by automated gun biopsy guided by real time ultrasonography. The diagnoses were made based on the specimen's light microscopy, immunofluorescence microscopy and electron microscopy findings and clinical symptoms and signs. Results : The mean age of the patients was 10 years with the male to female ratio being 1.3:1. The chief complaints that led to a renal biopsy included hematuria only(753 cases, 48.3%), proteinuria only(125 cases, 8.0%) and hematuria combined with proteinuria(537 cases, 34.4%). The most frequent histopathological finding was primary glomerular disease(75.4%) which included IgA nephropathy(30.1%) and mesangial proliferative glomerulonephritis(27.6 %). Systemic disease comprised 11.4% which included Henoch-$Sch\ddot{o}nlein$ nephritis(10.5%) and lupus nephritis(0.8%). Alport syndrome was found in 1.1% of cases which was attributed to hereditary causes. 628 children(40.3%) visited the clinic due to abnormal school urine screening abnormalities and among these, 237 children had mesangial proliferative glomerulonephritis and 234 children who had IgA nephropathy were managed thereafter. Conclusion : IgA nephropathy and mesangial proliferative glomerulonephritis were the two major forms of primary glomerulonephritis found in Korean children who had kidney biopsies from 1984 to 2005.

• Neonatal Medicine
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• 제17권2호
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• pp.250-253
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• 2010

Citrullinemia는 요소 회로 이상으로 argininosuccinate synthetase의 결핍으로 기인한다. 저자들은 citrullinemia type I 환자와 그의 가족에서 새롭게 발견된 돌연변이를 경험하여 이를 보고하고자 한다. 환아는 광범위 신생아 선천성 대사이상 선별검사에서 citrulline이 고도의 증가 소견과 혈청 암모니아는 $982{\mu}mol/L$까지 증가 소견을 보였다. 혈청 아미노산 분석결과 citrulline 1,581 nmol/mL로 현저한 증가 소견을 보였으며 또한 소변 유기산 분석 검사결과 orotic acid가 3,566 mmol/mol Cr로 매우 증가된 소견을 보였다. Citrullinemia 확진을 위하여 환아와 가족에 대하여 ASS1 gene 검사를 시행하였다. 환아는 c.689G>C (p.G230A)와 c.892G>A (p.E298k)의 변이가 발견되어 ASS1 gene의 돌연변이에 의한 citrullinemia type I 으로 진단되었으며, 두 가지 돌연변이는 아직 국내에 보고된 적 없는 새로운 것으로 확인되었다. 국내에서 새롭게 발견된 citrullinemia type I 유전자를 보고하며 citrullinemia를 보인 경우 확진 및 유전상담을 위하여 가족 유전자 검사를 시행하는 것이 필요하다고 생각한다.