• Title/Summary/Keyword: Late onset

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A CASE OF NARCOLEPSY IN A 11 YEAR-OLD BOY (소아 기면증 1예)

  • Choi, Bo-Moon
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.4 no.1
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    • pp.173-178
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    • 1993
  • Narcolepsy's age at onset is reported to be relatively homogeneous, occuring usually after the onset of puberty, although most cases are diagnosed when the patients are in their late teens to late 20s. It is very unusual for a patient to develop narcolepsy before 15 years of age or after 30 years of age. A 11-year old boy who has developed excessive daytime sleepiness since age of 7 and has all the four major features of narcolepsy by the time of evaluation is presented. On polysomnographic examination, the patient showed two sleep onset REM periods in the three latency test of the multiple sleep latency test and the nocturnal polysomnogram. In addition, the findings of typing HLA class I and II of the patient's family are presented. Reports of pediatric narcolepsy previously reported are reviewed.

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Risk Factors of Breast Cancer among Women in Eastern India: A Tertiary Hospital Based Case Control Study

  • Das, Soumen;Sen, Santanu;Mukherjee, Anindya;Chakraborty, Debadatta;Mondal, Pankaj Kumar
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.10
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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.

Early-Onset Sepsis Due to Listeria Monocytogenes in a Extremely Low Birth Weight Infant (초극소 저출생 체중아에서 발생한 Listeria Monocytogenes에 의한 조발형 패혈증 1례)

  • Moon, Jin Hwa;Oh, Sung Hee;Moon, Soo Jee
    • Pediatric Infection and Vaccine
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    • v.7 no.2
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    • pp.245-249
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    • 2000
  • Listeria monocytogenes is one of the important causes of neonatal sepsis and listerial neonatal infection manifests in two forms : Early-onset sepsis syndrome, associated with spontaneous abortion, still birth, preterm labor, granulomatosis infantiseptica, respiratory distress, sepsis, hemodynamic compromise and late-onset listerosis mainly associated with meningitis. Cases of neonatal listerosis reported in Korea have been rare and all were full term newborns. We, herein, report a case of early-onset sepsis due to L. monocytogenes in a extremely low birth weight infant who were born in a critical condition and succumbed in the second day of life despite the intensive care.

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Overview on Inborn Error of Metabolism involving Hepatic System (간기능 이상을 초래하는 유전성 대사질환)

  • Yoo, Han-Wook
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.13 no.1
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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.

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Effects of Late Sea-breeze on Ozone Distributions in the Coastal Urban Area (연안도시지역 해풍지연이 오존분포에 미치는 영향)

  • 오인보;김유근;황미경
    • Journal of Korean Society for Atmospheric Environment
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    • v.20 no.3
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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.

Late-Onset Distant Metastatic Upper Urinary Tract Urothelial Carcinoma Mimicking Lung Adenocarcinoma

  • Lim, Jun-Hyeok;Jeon, Sang Hoon;Lee, Jeong Min;Kim, Lucia;Cho, Jae Hwa;Ryu, Jeong-Seon;Kwak, Seung Min;Lee, Hong Lyeol;Nam, Hae-Seong
    • Tuberculosis and Respiratory Diseases
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    • v.75 no.1
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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.

A Clinical Observation on 55 Cases of Neonatal Sepsis (신생아 패혈증에 관한 임상적 고찰)

  • Park, Jae-Hong;Shin, Son-Moon
    • Journal of Yeungnam Medical Science
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    • v.5 no.2
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    • pp.161-169
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    • 1988
  • Neonatal sepsis is a frequent and important cause of morbidity and mortality in the neonatal period. This study was undertaken to observe the 55 cases of proven neonatal sepsis among 6,717 newborn infants under 4 weeks of age, admitted to the nursery of Yeungnam University Hospital from May 1, 1983 to April 30, 1988. We observed following results : 1. The morbidity rate of male(1.12%) was higher than that of female(0.44%) significantly (p<0.05). 2. The morbidity rate of prematurity(2.65%) was higher than that of full term(0.76%) significantly (p<0.05). 3. The incidence of perinatal obstetric complications in early onset neonatal sepsis was higher than that of late onset neonatal sepsis (38.5% vs 10.3%, p<0.05). 4. The common clinical manifestations were poor feeding(52.7%), jaundice(45.5%), diarrhea(30.9%) and irritability (30.9%). 5. Among the causative organisms, gram positive organisms were predominated and Staphylococcus epidermidis was the most common organism. There was no difference in the causative organisms between early onset and late onset sepsis.

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A Case of Pseudodeficiency in a Potential Late Onset Pompe Disease Carrier, with Double Dual Variant, Each in cis Formation (Pseudodeficiency 및 potential late onset Pompe disease 보인자로 확인된 cis형 dual variant 돌연변이 두 개를 가진 여아 1례)

  • Seung Ho, Kim;Goo Lyeon, Kim;Young Pyo, Chang;Dong Hwan, Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.22 no.2
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    • pp.58-62
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    • 2022
  • Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.