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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.

Study on the knowledge regarding caries prevention among pregnant women (임부의 구강건강관리지식에 대한 조사 연구 -영유아기 구강관리 내용 중심 고찰 -)

  • Jin, Bo-Hyoung;Huh, Sung-Yoon;Shin, Myung-Mi
    • Journal of dental hygiene science
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    • v.2 no.1
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    • pp.21-24
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    • 2002
  • It is important to practice preventive method to control oral disease. Dental caries tendency has been decreased in developed countries, but early childhood caries(ECC, BBTD) became serious dental problems in many countries. To slove these problems, more positive and definite prenatal programs on infants and child are needed. Mostly the control of oral health was affected by a mother's knowledge and behavior in this stage. According to many studies, prenatal education is the most effective method to promote oral health in children. But in Korea, there is little oral health education programs for pregnant women, nursing mothers, infants and children. The purpose of this study was to access the knowledge and opinions of caries prevention among gravid women. 330 pregnant women(primiparae=181, multiparae=149), aged 23 to 39 years were randomly selected at prenatal health education courses in Seoul, Korea, 2000. Face-to-Face interviews were conducted by a trained interviewer using questionnaires included demographics, attitude toward children's dental cares, knowledge of early childhood caries, knowledge concerning pregnancy and oral health. The obtained results were as follows; (1) Most respondents were very concerned about their children's oral health. (2) 58% of the respondents were unaware of early childhood caries and the proportion was significantly higher among primipara (p<0.05). (3) Only 43% of the respondents believed that improper breast feeding could develop ECC, the proportion was significantly higher among primipara(p<0.05). (4) 82% of the respondents reportedly believed that the fetus takes away calcium from the mother's teeth during pregnancy. (5) 71% of the respondents believed that dental treatment during pregnancy was unsafe. There is a relatively low level of accurate knowledge regarding infant nutritions, maternal need for oral health and dental caries prevention among pregnant women. Oral health education and promotion programs that are science-based are needed for gravid women.

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The Influence of Food Habits on Body Stature of Children (어린이의 식습관(食習慣)이 체위(體位)에 미치는 영향(影響)에 관한 연구(硏究))

  • Lee, Mi-Suk;Mo, Su-Mi
    • Journal of Nutrition and Health
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    • v.9 no.1
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    • pp.7-15
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    • 1976
  • The Purpose of this study was to determine every possible correlation between food habits and body statures of primary school children, aged ten years old. This study was conducted from July to October of 1975. In July, prepared questionaires concerning life style, anthropometry, food preference, and food behavior were distributed through school teachers to 425 children; 219 boys and 206 girls, in the 5th grade of three elementary schools in the city of Seoul. Then, in October, when subjects had been classified into underweight/obese by statistical analysis, mothers of obese or underweight children were interviewed by the authors to determine weaning history, daily food consumption of their children, and opinions of various snacks for children. Analysis of results in terms of correlation coefficient, chisquare test and percentage calculations, are as follows: 1. Physical growth and development Boys Girls Height (cm) $134.8{\pm}5.74\;134.4{\pm}5.97$ Weight (kg) $30.0{\pm}4.27\;29.5{\pm}5.16$ Chestgirth (cm) $64.1{\pm}3.59\;63.3{\pm}3.81$ Arm circumference (cm) $18.3{\pm}1.61\;18.2{\pm}1.70$ Triceps skinfold thickness (mm) $10.9{\pm}5.13\;12.7{\pm}4.86$ Various indices of nutrition such as relative weight, relative chestgirth, $R{\ddot{o}}hrer's$ index, Kaup index, Vervaeck index were determined. 2. Food habits 1) Food $preference{\cdots}{\cdots}A$ varying number of foods were selected from 60 items were accepted. It was found that the food which children liked best was fruit and snacks were popular one. Lowest ranking among LIKED foods were from strongly flavored vegetables and organ meat. In general, girls had more food dislikes than did boys. Selected as liked foods were fruits, rice noodle soup, biscuits, and peanuts. Disliked foods were liver, green onions, onions, green pepper, mushrooms, oysters, shellfish, and pork. Items which children never ate before were liver, mushrooms, fish cake, boiled rice mixed with sorghum, mayonnaise, and fresh water firsh. Reasons which children gave for dislike were undesirable flavor and odor. 2) Food $behavior{\cdots}{\cdots}It$ was found that boys liked sweet and salty flavors more than did the girls who more often liked sour flavor. The majority of children enjoyed evening meals more than lunch and breakfast. A number of children skipped breakfast because of lack of appetite or lack of time before going to school. Snacks were the most popular food, especially among girls. Their snacking habits were formed by the encouragement of the mother, and the relieve boredom. Educational backgrounds of mothers and family economical levels of children were remarkable correlated with mothers' attitudes toward feeding of children. There were several interesting findings relating body stature to some other responses; such as that the obese child has a small number of brothers, higher birth order, higher educated mothers and higher family cultural background. It was also discovered that food perference, except for fat and oil group foods was not related to body stature. Sweet taste was liked best and pepperly taste was mostly disliked. Sour taste was popular in the group of underweight. Underweight children were more finicky, disliked snacking, and didn't get much attention from their mothers. 3) Correlation between body stature and nutrition during their infancy. The majority of children, both from obese and underweight, were breast fed as infant. Twenty five per cent of obese children and 17.4 per cent of underwight children started weaning at $1{\sim}6$ months old. The most popular supplemental food of weaning was cereal gruel for the obese group, while boiled white rice and cereal gruel were most common for the underweight group. Highly significant relationships were found between stature of parents and their children. In the obese group 47.8 per cent of fathers and 45.9 per cent of mothers were overweight; however, none of the fathers and only one mother was found to be underweight. In daily food consumption patterns, meals consisting of bread or noodle were popular in the obese group but disliked by the underweight group. The study found clear contrast in that the obese group liked meat and fish while the underweight group liked fruits and vegetables, especially kimchee. The obese children desired to eat cereal foods, milk and milk products, and fat foods while the underweight group desired to eat fruits and vegetables. Frequency of snacks per day was much greater in the obese group. Foods which mothers believed to be good for the health were carrots, cucumbers, fruits, milk, potatoes, sweet potatoes, and breads, while sweet foods such as candies, drinks. chocolate were considered not good for the teeth. Watching television was not significantly related to statures of children. Most significant relationships were found beween frequencies of family guest meals/and eating-out, and children's statures. Nutritional problems which have been considered for the malnourished children in addition to those of children who have a tendency toward obesity, must be taken into consideration in the development of proper nutrition education through the channels of regular school teaching and teaching by parents in the homes. Korean standards of anthropometric measurements for children should be revised, current measurements show much higher figures than present Korean standards.

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Birth Registration Rate and Accuracy of Reported Birth Date in Rural Area (농촌지역의 법정-기간내 출생신고율과 신고된 생년월일의 정확도)

  • Park, Jung-Han;Lee, Chang-Yik;Kim, Jang-Rak;Song, Jung-Hup;Yeh, Min-Hae;Cho, Seong-Eok
    • Journal of Preventive Medicine and Public Health
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    • v.21 no.1 s.23
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    • pp.70-81
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    • 1988
  • To measure the birth registration rate and the validity of birth registration data in rural area, all of the 4,014 married women under 49 years of age who had not been sterilized in Gunwee county of Kyungpook province were followed by Myun health workers for 2 years from April 1, 1985 to March 31, 1987 and 766 births were detected. All of the birth registration records of Myun offices were reviewed on September 30, 1987 and 944 births which occurred within the above mentioned period were found. Actual birth date obtained by follow-up study were compared with the birth date on registration card. Among 766 births detected by follow-up study,576 births(75.2%) which were reported within 6 months after birth were ascertained on the official registration records and 96 births(12.5%) were not found on the records although mother stated that the birth was registered. The registration rate within legal due date was 61.3% among 576 births detected by follow-up study and also ascertained on the official records. The registration rate within legal due date was lower in mothers under 20 years of age and above 35 years and in mothers who had only primary education. It was decreased as the birth order increased. The registration rate was higher in births occurred from October to March than births occurred from April to September. All of the births of 7 neonatal deaths were not reported. The registered birth date was consistent with the actual birth date in 78.0%. Birth date on record was earlier than the actual birth date in 6.8% and later in 15.3%. The consistency rate was lower in mothers above 35 years of age(54.5%), and in infants of 4th birth order and above(56.3%). The rate was increased as the maternal education level increased. The rate of boys was higher than that of girls. A higher percentage(17.4%) of infants born in March was registered with earlier date than the actual birth date and most of these registered birth dates were lunar calendar date. This might be related with the age for entering the primary school. The study findings revealed that the birth registration rate within legal due date and accuracy of report have been increased in recent years, but the infant mortality rate derived from the birth registration seems to be very inaccurate. It is suggested to let the medical personnel who delivered the baby report the birth by mail directly to the current address of parent while infants delivered at home without professional attendant may comply with the present registration system.

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ATTACHMENT AND PSYCHOPATHOLOGY (애착과 정신병리)

  • Choi, Jee-Eun;Ahn, Dong-Hyun
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.15 no.1
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    • pp.40-60
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    • 2004
  • Introduction:Research on attachment in view point of the developmental perspective which began in the 1940s progressed during several decades. Many investigators focused mother-child separation in early attachment studies, and moved to the relationship with childhood psychopathology. Recently attachment theory and research are moving forward along the intergenerational transmission of attachment patterns, and adolescents and adult mental disorders in the developmental perspectives. Methods:We surveyed the research papers through Medline search, attachment-related monographs, and review or original papers published in Korean journal. Results:Developmental attachment researches have demonstrated convincingly that insecure attachment in infancy is associated with attachment disorder; several childhood psychopatholgy, such as institutional care and adoption, aggression and behavioral problems, childhood anxiety disorders and depressive disorders, gender identity disorder and feeding disorder, and child abuse and maltreatment; peer relationship and social competency, and parental behaviors. Recently the methodological advances including the Adult Attachment Interview that systematically assesses the adults' recollections of the earlier parent-child relationship they experienced could move beyond attachment researcher's initial concern with infancy to consider attachment processes throughout the life span. We could find that the quality of attachment was associated with several mental disorders in adolescents and adults significantly. Conclusion:Attachment theory would have focused on more specific parent-child relationship than general parental behavior. Recent attachment theory underscores its evolutionary origins to promote development of infant and contribute to human survival in psychobiological bases. Advances in attachment research could unite interests in evolutional biology and developmental psychology in understanding early parent-child relationship, and apply to clinical issues concerning mental health throughout the life span.

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Immune responses of hepatitis B vaccination among very low birth weight infant (극소 저출생체중아의 영아기 B형 간염 항체 생성률 조사)

  • Kim, Young-Deuk;Han, Myung-Ki;Kim, Ai-Rhan E.;Kim, Ki-Soo;Pi, Soo-Young
    • Clinical and Experimental Pediatrics
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    • v.49 no.8
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    • pp.857-863
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    • 2006
  • Purpose : To evaluate the immunogenicity of hepatitis B vaccine among very low birth weight infants(VLBWI) who were vaccinated at 0, 1, 6 months of chronological age and to determine the factors associated with antibody formations. Methods : A total of 243 VLBWI admitted to Seoul and Gangneung Asan Medical Center neonatal intensive care units from 1997 to 2004 were included. Of 243, 13 infants were born to HBs Ag positive mother. All infants were given DNA recombinant vaccine at 0, 1, and 6 months of chronological age. Infants born to HBs Ag positive mothers received hepatitis B immunoglobulin at birth and a total of 4 doses of vaccinations. An antibody level over 10 mIU/mL, tested at 3-4 months after last vaccination, was regarded as a positive seroconversion. Results : The seroconversion rates were 84.4 percent and 84.5 percent for VLBWI and extremely low birth weight infants(ELBWI), respectively. Of 28 seronegative infants who were given revaccinations, 60.7 percent seroconverted, resulting in 95.3 percent, 97.5 percent seroconversion rates for VLBWI and ELBWI, respectively. 76.9 percent of infants born to HBsAg positive mothers seroconverted and none became hepatitis B carriers. Factors such as gestational age, sex, various neonatal illness, and kinds of vaccinations did not influence the formation of the hepatits B antibody, however, the higher the weight at time of first vacciation yielded better seroconversion rate. Conclusion : Revaccination of seronegative VLBWI after 3 doses of hepatitis B vaccinaton is very effective. Therefore, testing the immune status after the hepatitis B vaccination, a practice not routinely done, is highly recommended.

Clinical Features of Dietary Protein Induced Proctocolitis (식이 단백 유발 직결장염의 임상적 고찰)

  • Im, Sun Ju;Kim, Seong Heon;Bae, Sang Nam;Park, Jae Hong
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.8 no.2
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    • pp.157-163
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    • 2005
  • Purpose: Dietary protein induced proctocolitis (DPIPC) can be considered as a cause of rectal bleeding or blood streaked stool in otherwise healthy-looking infants in the first several months of life. Failure to appreciate this entity may lead to inappropriate diagnostic or therapeutic intervention. This study aimed to ascertain the clinical features, treatment and prognosis of DPIPC. Methods: We reviewed 13 infants retrospectively, presented with bloody stool in early infancy. They were diagnosed as DPIPC clinically in Pusan National University Hospital from May 2002 to June 2004. Results: Seven males and six females were included. The mean age at onset of bleeding was $96.8{\pm}58.8days$. The mean frequency of hematochezia was $2.6{\pm}2.5$ times a day. Duration from onset of symptom to diagnosis was $35.5{\pm}55.0days$ and duration from onset of symptom to resolution of bleeding was $58.7{\pm}67.0days$. Nine (69.2%) were exclusively breast-fed infants and two (15.4%) were formula-fed infants. All but one infant did not have family history of other allergic diseases. A dietary history of ingestion of cow's milk, nut or shellfish was present in three mothers. Peripheral eosinophil count was normal to slightly elevated (total WBC count $10,555{\pm}3,145/mm^3$, relative eosinophil count $6.3{\pm}3.0%$, absolute eosinophil count $659.0{\pm}532.2/mm^3$). Sigmoidoscopy revealed lymphonodular hyperplasia with surrounding hemorrhagic spots in the rectosigmoid colon in 6 infants. Histopathologic finding of colonic biopsies in 5 infants showed chronic inflammation with lymphoid follicular hyperplasia (5 infants), crypt abscess (3 infants), or mild infiltration of eosinophils (less than 20/high power field) in the lamina propria. Spontaneous resolution of rectal bleeding occurred in all infants without dietary change or medicine. Conclusion: Most infants with DPIPC experience a very benign course and have spontaneous resolution of rectal bleeding without changes in the mother's diet. In the case of strong evidence for DPIPC we suggest deferring further invasive investigation and continuing breast feeding.

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Periventricular leukomalacia induced by in utero clamping of pregnant rat aorta in fetal rats (태아 백서에서 임신 백서의 자궁 내 대동맥 결찰로 유발한 뇌실주위 백질연화증)

  • Chang, Yun Sil;Sung, Dong Kyung;Kang, Saem;Park, Soo Kyung;Jung, Yu Jin;Seo, Hyun Joo;Choi, Seo Heui;Park, Won Soon
    • Clinical and Experimental Pediatrics
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    • v.51 no.8
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    • pp.874-878
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    • 2008
  • Purpose : This study was undertaken to develop an animal model of periventricular leukomalacia (PVL) induced by in utero clamping of pregnant rat aorta in fetal rats. Methods : A timed pregnanct Sprague-Dawley rat on embryonic day 21 just prior to delivery was sedated and anesthetized, and a Harvard ventilator for small animals was applied. Following laparotomy, the maternal aorta was clamped reversibly for 40 minutes using a surgical clip. The fetal rats were then delivered by Cesarean section, resuscitated if necessary, and reared by a surrogate mother rat until postnatal day 21 to obtain the brain specimen. After systemic perfusion and fixation, $10{\mu}m$ thick serial brain sections were obtained and stained for pathologic examination and assessment of ventriculomegaly. Ventriculomegaly was assessed by the measured ventricle to total brain volume ratio. Results : Eight out of eleven fetal rats (73%) survived in the ischemia group after induction of in utero ischemia by clamping maternal rat aorta, and all ten survived in the control group. Body and brain weights measured at postnatal day 21 were significantly lower in the ischemia group compared to the control group. In pathologic findings, significant ventriculomagaly ($3.67{\pm}1.21%$ vs. $0.23{\pm}0.06%$) was observed in the ischemia group compared to the control group; although cystic lesion was not observed, mild (n=6) and moderate (n=2) rerefaction of the brain tissue was observed. Conclusion : A fetal rat model of PVL induced by in utero clamping of pregnant rat aorta was developed.

On Pattern of Birth and Death in Seoul City (서울시인구(市人口)의 출생(出生).사망(死亡) 양상(樣相)에 관(關)한 연구(硏究))

  • Kwon, E-Hyock;Kim, Tae-Ryong;Park, Hyung-Jong;Koo, Do-Suo;Lee, Yong-Wook;Park, Soon-Young
    • Journal of Preventive Medicine and Public Health
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    • v.1 no.1
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    • pp.9-23
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    • 1968
  • A survey was conducted by the staff of the College of Medicine and School of Public Health, Seoul National University in cooperation with Seoul Special City from 1 December 1967 through 28 February 1968, on such events as delivery, death, abortion and pregnancy. The survey directed to a total population of 47,811 residing in 9,157 households led us to the following findings: 1. Two year averages of crude birth rate, crude death rate and natural increase rate were 30.1, 5.6 and 24.5, respectively. 2. Of all deliveries, home and hospital deliveries constituted 61.1 per cent and 35.5 per cent, respectively. 3. Deliveries other than hospital deliveries were found to be attended more often by mother-in-laws (26.5 per cent) than by doctors or midwives(23.4 per cent). 4. About 51 per cent of all women having experiences in pregnancy during the last two years had an experience of consulting a doctor at least one time throughout whole period of pregnancy. 5. In most cases scissors were used to cut umbilical cords, of which 71.0 per cent were not sterilized and only 20.3 per cent sterilized. 6. In many cases placenta was incinerated(48.2 per cent) and on many other occasions it was thrown away into water(28.3 per cent). 7. Cement bags(37.4 per cent), gauze and absorbent cotton(29.8 per cent) were found to be most frequently used to receive new-born babies. 8. In 1966 8. 8 per cent of the women had at least one abortion induced and in 1967 the percentage was 9.2 per cent. 9. Nearly all(95.8 per cent) of the induced abortions reportedly were done at doctor's clinics. 10. Of all the abortions induced 65.3 per cent were done by specialists in obstetrics, 30.3 per cent by general practitioners and 2.7 per cent by midwives. 11. Those who experienced spontaneous abortions were 1.9 per cent of all women both in 1966 and 1967. 12. About 9.2 per cent of women investigated were found to be currently pregnant. 13. Age specific death rate turned out to be highest among those under 1 year of age. 14. Ten major causes of death in their order of frequency were: 15. Places of death can be classified into homes(75.3 per cent) and hospitals(13.2 per cent). 16. Method of disposing of corpses comprised burials(54.2 per cent) and cremations(44.6 per cent). 17. Infant, neonatal and hebdomadal mortality rates have been computed at 32.2, 18.9 and 13.7, respectively. 18. Infants were found to have died either at homes(81.5 per cent) or at hospitals(18.5 per cent). 19. Birth registrations had been done for about 18.5 per cent of the dead infants.

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Concurrence of Obstetric Brachial Plexus Injury, Congenital Muscular Torticollis and Cleft Palate (분만성 상완 신경총 손상, 선천성근성사경 및 구개열의 병발)

  • Lee, Han-Byul;Park, Myong-Chul;Kim, Chee-Sun;Han, Jae-Deok;Lee, Seung-Jae;Kim, Se-Yon;Yim, Shin-Young
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.71-75
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    • 2011
  • A male infant was diagnosed with obstetric brachial plexus injury, congenital muscular torticollis and cleft palate 17 days after birth. His mother presented with gestational diabetes and premature rupture of membranes. Although it is possible that these three disorders arose independently, it is very likely that all three have the same etiologic cause, and we propose that a possible mechanism for this concurrence is related to maternal gestational diabetes. Maternal hyperglycemia mostly affects fetal structures deriving from the neural crest, including the palatine bone, and may have caused the cleft palate observed in this case. Gestational diabetes is also associated with increased frequency of large for gestational age infants and, by extension, with increased risk of birth injuries such as obstetric brachial plexus injury or congenital muscular torticollis associated with large for gestational age infants. Since the children of mothers with gestational diabetes are at increased risk for congenital defects such as cleft palate as well as being large for gestational age, precautions indicated for each respective disorder must be taken during prenatal testing and during birth. However, further studies of more cases are required to evaluate whether the concurrence of obstetric brachial plexus injury, congenital muscular torticollis and cleft palate in this case are complications specifically associated with gestational diabetes or just a simple coincidence.