• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제4권1호
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• pp.173-178
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• 1993

기면증의 초발연령은 비교적 균일하여 15세 이전, 보통 30세이후에 발병하는 것으로 알려져있다. 저자는 기면증의 4대 증상인 주간의 과도한 졸리움, 탈력 발작, 수면마비 및 입면환각을 보이며 수면다원 검사에 의해 진단된 11세 남아를 경험하였기에 문헌고찰과 함께 이를 보고하고자 한다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권10호
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• pp.4979-4981
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• 2012

Aim: Breast cancer is one of the most common cancers of women in India with high fatality rate. Over a 1 year study period 105 consecutive biopsy or fine needle aspiration cytology confirmed breast cancer patients were interviewed by direct questionnaire method regarding risk factors attending Surgery and Radiotherapy OPD of Medical College Kolkata, West Bengal while taking other 105 patients attending Surgery Department for some other disease as controls. The data were compiled in MS Excel 2007 and analyzed by Epi info 3.5.1 software. Among the cases, rural residence, illiteracy and low socio-economic status was significantly higher than controls. Late onset of menarche, late onset of menopause, ever OCP usage, breast feeding for 1-2 years and age of 1st childbirth between 20-30 years were found to be significant protective factors. People should be made aware regarding the modifiable risk factors to prevent breast cancer.

• Pediatric Infection and Vaccine
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• 제7권2호
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• pp.245-249
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• 2000

저자들은 재태기간 26주에 조기 진통으로 분만 후 사망한 초극소 저출생 체중아에서 L. monocytogenes에 의한 패혈증과 이에 의한 사망을 관찰하였기에 이를 문헌 고찰과 함께 보고하는 바이다.

• 대한유전성대사질환학회지
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• 제13권1호
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• pp.20-29
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• 2013

Inborn error of metabolism usually presents with a constellation of clinical pictures involving multiorgan systems. Because of its rarity and clinical diversity, it is difficult to make diagnosis accurately and efficiently. Many inborn error of metabolism shows predominantly hepatic symptoms and signs. The onset of symptoms is also varying depending the disease. The onset might be even prenatal, either neonatal or infantile, and late childhood. The major manifestation patterns are jaundice or cholestasis, hepatomegaly with or without splenomegaly, hypoglycemia and acute or chronic hepatocellular dysfunction. Based on pronounced hepatic symptoms and onset of symptoms, differential diagnosis can be more easily made with subsequent further laboratory investigation. In this review paper, major inborn error of metabolism with hepatic symptoms are described from the perspective of mode of clinical presentations.

• 대한유전성대사질환학회지
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• 제2권1호
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• pp.72-76
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• 2002

• 한국대기환경학회지
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• 제20권3호
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• pp.345-360
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• 2004

The late sea-breeze and its impacts on ozone distributions were investigated during April to September from 1998 to 2002, in the Busan metropolitan area (including surrounding areas) using the surface ozone concentrations (obtained at 9 monitoring sites), local meteorological variables (obtained near the shore), together with synoptic data. The urban scale ozone concentration was also simulated using the MM5/UAM-V to better understand the role of late sea-breeze in Busan. The results from observation study showed that most of the late sea-breeze occurred when weak offshore synoptic flow (northwesterly) suppressed development of sea - breeze, and the ozone concentration level and frequencies exceeding ozone standard increased with the onset time of sea breeze. We also found that the late sea-breeze clearly induces relatively weak wind speed and high temperature during the daytime As a result it enhances the photochemical ozone accumulation and delays the occurrence time of the averaged maximum ozone concentrations. The results of simulation for high ozone episode (24 August, 2001) by MM5/UAM -V revealed that the late sea-breeze interacted with weak offshore synoptic wind can contribute significantly to high ozone concentration in the coastal urban area. The simulated horizontal and vertical distribution of ozone concentration indicated that ozone can be accumulated over the sea under stagnant condition and return to the land in the late afternoon with the sea breeze, suggesting both the relationship between late sea-breeze and recirculation and the importance of late sea -breeze effects influencing severe ozone pollution in Busan.

• Tuberculosis and Respiratory Diseases
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• 제75권1호
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• pp.32-35
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• 2013

Urothelial carcinomas (UCs) can occur in the upper urinary tract or lower urinary tract. Upper urinary tract urothelial carcinoma (UUT-UC) is relatively a rare disease and accounts for only about 5% of UC cases. Sporadic cases of late-onset metastasis, associated with UC of the bladder, have occasionally been reported. In contrast, no late-onset distant metastatic UUT-UC without local recurrence has, to the best of our knowledge, been reported in the English literature. We report an extremely rare case of distant metastatic UC, mimicking lung adenocarcinoma that originated from UUT-UC 12 years previously.

• Journal of Yeungnam Medical Science
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• 제5권2호
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• pp.161-169
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• 1988

1. 성별 빈도는 남아 42례(1.12%), 여아 13례(0.44%)로 남아에서 여아보다 더 많이 발생 하였고 미숙아에서의 발생 빈도는 2.65%로 만삭아에서 0.76% 보다 높았다. (P<0.05) 2. 발병일 별로는 생후 4일내에 발생한 조기 발병형 신생아 패혈증은 26례(47.3%)였으며, 생후 5일 이후에 발생한 만기 발병형 신생아 패혈증은 29례(52.7%)였고, 조기발병형 신생아 패혈증에서 주산기 합병증의 빈도가 만기 발병형 신생아 패혈증보다 높았다(38.5% vs 10.3%, P<0.05). 3. 임상소견으로는 수유곤란 52.7%로써 가장 많았고 황달(45.5%), 설사(30.9%), 보챔(30.9%) 등의 순으로 나타났다. 4. 검사상 소견으로는 미성숙 백혈구수가 20% 이상인 경우와 CRP가 1+ 이상인 경우가 진단에 도움이 되었다. 5. 원인균으로는 그람 양성균이 37례, 그람음성균이 19례였으며 그람 양성균중에서는 Staphylococcus epidermidis가 23례(41.1%)로 가장 많았고 그람 음성균중에서는 E. coli가 9례(16.1%)로 가장 많았으며 조기 발병형 신생아 패혈증과 만기 발병형 신생아 패혈증간의 원인균의 차이는 없었다.

• 대한유전성대사질환학회지
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• 제22권2호
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• pp.58-62
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• 2022

폼페병(PD, Pompe disease), 2형 당원축적병(Glycogen storage disease type II)은 보통염색체 열성 질환으로 용해소체 효소인 acid maltase (acid α-glucosidase, GAA) 결핍으로 인한 대사근육병이다. 한 종류의 효소 결핍에 의한 질환이지만, GAA의 결핍정도와 유전자형에 따라 임상양상이 다르게 나타난다. 발병 시기에 따라 크게 영아형 폼페병(infantile onset Pompe disease, IOPD), 성인형 폼페병(late onset Pompe disease, LOPD)으로 나눌 수 있다. 저자들은 신생아기 때 호흡곤란증후군을 진단받고 치료받은 후 잠시 혈중 CK 증가가 확인되었으나 다른 임상증상 없이 경과 관찰 후 호전되었고, LSD 스크리닝 검사 결과 상 GAA 수치가 0.58 umol/h/L로 감소되어 있음을 확인한 1례에 대해 보고하고자 한다. 해당 환아를 PD 의증으로 고려하여 시행한 GAA enzyme essay 상 total GAA level은 16.2 nmol/2hr/mg protein, GAA with acarbose level은 2.0 nmol/2hr/mg protein, acarbose/total level의 비율은 12.0%로 낮은 수치를 확인하였다. 환아의 유전자 검사 상 exon #4에서 두개의 likely pathogenic heterozygous mutation인 c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), exon #12에서 heterozygous mutation인 c.1726G>A (p.Gly576Ser), exon #15에서 heterozygous mutation인 c.2065G>A (p.Glu689 Lys)이 확인되었다. 환아의 7세 오빠는 유전자 검사에서 정상으로 확인되었고, 아버지는 환아에서 동일하게 확인된 exon #12에서 heterozygous mutation인 c.1726G>A(p.Gly576Ser), exon #15에서 heterozygous mutation인 c.2065G>A (p.Glu689Lys)이, 어머니에서는 exon #4에서 두 개의 likely pathogenic heterozygous mutation인 c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu)가 확인되었다. Pathogenic한 유전자 두개가 있으면 보통 환자로 인식될 수 있으나 이 환아에서처럼 pathogenic한 유전자 두 개가 있더라도 cis 형태로 하나처럼 움직인 경우 PD 환자가 아니라 carrier 일 수 있다는 것을 경험한 증례였다. 이에 PD 환아의 유전검사 결과를 해석할 시 pathogenic variant 유전자가 두 개일지라도 혹시 cis 형태로 하나의 유전자인지를 확인하여, pseudodeficiency나 potential LOPD carrier일 수 있는 점을 고려하며 여러 임상 양상을 취합하여 진료를 시행하는 것이 필요하다.

• 말소리와 음성과학
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• 제9권4호
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• pp.115-122
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• 2017

This study attempts to determine the extent to which late talkers are at the risk of delayed phonological development, in order to identify groups at risk and to find factors affecting delayed phonological development. A group of 1,452 children (51% boys, 49% girls) were recruited from the nationwide Panel Study on Korean Children. The current study collected data from 418 children who were previously identified as late-talkers (LT) at their age of three on average (Time 1: expressive vocabulary test) and three years later (Time 2: phonological test). Their phonological outcomes of the Time 2 were analyzed and then compared to those of a group of 1,056 children with typical language development (NLT: no late-talkers) at the age of three in terms of the number of incorrect consonants, and the speech sound disorders rating scores. LT showed a lower articulation score than NLT, and boys showed a lower score than girls. These findings indicate that the late onset of speech and the gender of young children could be potential risk factors of speech sound disorders.