Triploidy is not rare and present in about 1% of all recognized human pregnancies, although most of these pregnancies end in spontaneous abortion during the first trimester. Survival of the fetus up to 20 weeks or beyond is rare. Therefore, liveborn infants with triploidy are very rare. Here is a report on a female liveborn infant with triploidy (69, XXX), who was born to a 27-year-old healthy mother. The clinical features are growth retardation, head-to-body disproportion, wide posterior fontanelle, hypertelorism, micrognathia, bilateral pre-auricular polyps, syndactyly of left 3rd and 4th fingers, syndactyly of right 2nd and 3rd fingers and talipes equinovarus. The infant died 4 hours after birth. The autopsy revealed transposition of great vessels, ventricular septal defect, one lobe of left lung and 2 lobes of right lung and duodenal atresia.
{"title":"[A liveborn infant with triploidy (69, XXX): report of one case].","authors":"Yeh Hy, Shen Sy","doi":"10.7097/APS.199412.0559","DOIUrl":"https://doi.org/10.7097/APS.199412.0559","url":null,"abstract":"Triploidy is not rare and present in about 1% of all recognized human pregnancies, although most of these pregnancies end in spontaneous abortion during the first trimester. Survival of the fetus up to 20 weeks or beyond is rare. Therefore, liveborn infants with triploidy are very rare. Here is a report on a female liveborn infant with triploidy (69, XXX), who was born to a 27-year-old healthy mother. The clinical features are growth retardation, head-to-body disproportion, wide posterior fontanelle, hypertelorism, micrognathia, bilateral pre-auricular polyps, syndactyly of left 3rd and 4th fingers, syndactyly of right 2nd and 3rd fingers and talipes equinovarus. The infant died 4 hours after birth. The autopsy revealed transposition of great vessels, ventricular septal defect, one lobe of left lung and 2 lobes of right lung and duodenal atresia.","PeriodicalId":306859,"journal":{"name":"Acta paediatrica sinica","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1994-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126884923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Diagnosis and Management of Respiratory Infections in Pediatric Intensive Care Patients","authors":"R. Lemen","doi":"10.7097/APS.199411.0015","DOIUrl":"https://doi.org/10.7097/APS.199411.0015","url":null,"abstract":"","PeriodicalId":306859,"journal":{"name":"Acta paediatrica sinica","volume":"34 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1994-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134257028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. Hwang, Chin‐Yun Lee, P.-I. Lee, J. Chen, K. Lli, D. Lin, Mei‐Hwei Chang
Pyogenic liver abscess, which may lead to devastating consequences, is an uncommon medical problem in pediatrics and has generally been reported in compromised hosts. This article describes two patients with β-thalassemia major and hemochromatosis complicated by Klebsiella pneumoniae liver abscess. One of the patients had sever complications, including subphrenic abscess, pleural effusion and meningitis. To present knowledge, the occurrence of K. Pneumoniae liver abscess in patients with β-thalassemia major has never before been reported in the literature.
{"title":"Pyogenic liver abscess in β-Thalassemia major. Report of two cases","authors":"C. Hwang, Chin‐Yun Lee, P.-I. Lee, J. Chen, K. Lli, D. Lin, Mei‐Hwei Chang","doi":"10.7097/APS.199410.0466","DOIUrl":"https://doi.org/10.7097/APS.199410.0466","url":null,"abstract":"Pyogenic liver abscess, which may lead to devastating consequences, is an uncommon medical problem in pediatrics and has generally been reported in compromised hosts. This article describes two patients with β-thalassemia major and hemochromatosis complicated by Klebsiella pneumoniae liver abscess. One of the patients had sever complications, including subphrenic abscess, pleural effusion and meningitis. To present knowledge, the occurrence of K. Pneumoniae liver abscess in patients with β-thalassemia major has never before been reported in the literature.","PeriodicalId":306859,"journal":{"name":"Acta paediatrica sinica","volume":"96 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1994-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127102955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
In 1990, we performed a nationwide survey among 38,137 neonates born in 27 hospitals in Taiwan and there were 45 Down syndrome. We estimated the incidence was 1.18/1000. Among 138 cases of Karyotypes obtained from 13 cytogenetic laboratory then, there were 96% of trisomy 21, 3% of translocation. In another study, we found the mean maternal age of 395 cases was 29.5±5.3, however, 20% of them were above 35 years old. In the growth study of Down syndrome in Taiwan, we found the final height of our male patients was around 156cm and 145cm in female. In these families, the first things they need are the assistance of daily care and education. The Cost of a Down syndrome up to 35 years old was estimated to be 3,780,000 to 4,470,000 NT dollars. Therefore, genetic counseling, prenatal diagnosis and maternal serum screening are very important in prevention.
{"title":"中華民國小兒科醫學會第137屆學術演講會教育演講：先天性畸形－唐氏症","authors":"林秀娟","doi":"10.7097/APS.199404.0028","DOIUrl":"https://doi.org/10.7097/APS.199404.0028","url":null,"abstract":"In 1990, we performed a nationwide survey among 38,137 neonates born in 27 hospitals in Taiwan and there were 45 Down syndrome. We estimated the incidence was 1.18/1000. Among 138 cases of Karyotypes obtained from 13 cytogenetic laboratory then, there were 96% of trisomy 21, 3% of translocation. In another study, we found the mean maternal age of 395 cases was 29.5±5.3, however, 20% of them were above 35 years old. In the growth study of Down syndrome in Taiwan, we found the final height of our male patients was around 156cm and 145cm in female. In these families, the first things they need are the assistance of daily care and education. The Cost of a Down syndrome up to 35 years old was estimated to be 3,780,000 to 4,470,000 NT dollars. Therefore, genetic counseling, prenatal diagnosis and maternal serum screening are very important in prevention.","PeriodicalId":306859,"journal":{"name":"Acta paediatrica sinica","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1994-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114619652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A congenital anomaly is a structural abnormality of any type that is present at birth. The causes of congenital anomalies are often divided into genetic factors (chromosome abnormalities and mutant genes) and environmental factors, many common congenital anomalies caused by multifactorial inheritance. From January, 1991, to December, 1993, 42,222 liveborn infants were collected from eight hospitals in Kaohsiung city. Approximately 489 (1.16%) infants of all liveborn infants had major congenital anomalies. The most common major malformations were congenital heart diseases (338 cases), cleft lip and palate (49 cases), and polysyndactyly (28 cases). Chromosome abnormalities had trisomy 21(18 cases) and trisomy 18 (4 cases). Four cases had identified mutant gene syndromes. The majority of infants with congenital anomalies of unknown cause likely have a genetic disorder. Molecular biological techniques will accelerate genetic discoveries over the next few decades.
{"title":"中華民國小兒科醫學會第137屆學術演講會教育演講：先天性畸形－先天異常","authors":"趙美琴","doi":"10.7097/APS.199404.0023","DOIUrl":"https://doi.org/10.7097/APS.199404.0023","url":null,"abstract":"A congenital anomaly is a structural abnormality of any type that is present at birth. The causes of congenital anomalies are often divided into genetic factors (chromosome abnormalities and mutant genes) and environmental factors, many common congenital anomalies caused by multifactorial inheritance. From January, 1991, to December, 1993, 42,222 liveborn infants were collected from eight hospitals in Kaohsiung city. Approximately 489 (1.16%) infants of all liveborn infants had major congenital anomalies. The most common major malformations were congenital heart diseases (338 cases), cleft lip and palate (49 cases), and polysyndactyly (28 cases). Chromosome abnormalities had trisomy 21(18 cases) and trisomy 18 (4 cases). Four cases had identified mutant gene syndromes. The majority of infants with congenital anomalies of unknown cause likely have a genetic disorder. Molecular biological techniques will accelerate genetic discoveries over the next few decades.","PeriodicalId":306859,"journal":{"name":"Acta paediatrica sinica","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1994-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129298227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fetal alcohol syndrome (FAS) is a constellation of anomalies caused by fetal alcohol exposure. When the anomalies are to a lesser extent, the disorder is called fetal alcohol effect (FAE). Whether it is FAS or FAE, the prevalence is worldwide, though the syndrome is often failed to be recognized by the physicians and/or medical personels. In Taiwan, several cases of FAS have been found including one family with more than one child affected, and one family of aborigines. The etiology and pathophysiology of FAS remain unknown. In general, the more the alcohol exposure, the severer the clinical conditions. There is, however, no amount of alcohol that has been proven to be safe. The clincal features are variable, with prenatal and postnatal growth deficiencies, neurological dysfunctions, characteristic face, and various anatomical defects of multiple organs. The treatment is, unfortunately, less than satisfactory. Thus, prevention is still of prime importance.
{"title":"Continuing Medical Education The 137th Scientific Meeting of the Chinese Taipei Pediatric Association Continuing Medical Education: Congenital Anomalies in Taiwan-Fetal Alcohol Syndrome","authors":"Ming-Liang Lee","doi":"10.7097/APS.199404.0038","DOIUrl":"https://doi.org/10.7097/APS.199404.0038","url":null,"abstract":"Fetal alcohol syndrome (FAS) is a constellation of anomalies caused by fetal alcohol exposure. When the anomalies are to a lesser extent, the disorder is called fetal alcohol effect (FAE). Whether it is FAS or FAE, the prevalence is worldwide, though the syndrome is often failed to be recognized by the physicians and/or medical personels. In Taiwan, several cases of FAS have been found including one family with more than one child affected, and one family of aborigines. The etiology and pathophysiology of FAS remain unknown. In general, the more the alcohol exposure, the severer the clinical conditions. There is, however, no amount of alcohol that has been proven to be safe. The clincal features are variable, with prenatal and postnatal growth deficiencies, neurological dysfunctions, characteristic face, and various anatomical defects of multiple organs. The treatment is, unfortunately, less than satisfactory. Thus, prevention is still of prime importance.","PeriodicalId":306859,"journal":{"name":"Acta paediatrica sinica","volume":"98 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1994-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114452788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This report summarizes the cytogenetic screening results of 2,353 mentally retarded school children conducted in the past 15 years through three research projects. The first project (1977-1981) was aimed at identifying the chromosome abnormalities from the 470 mentally retarded patients. The incidence of chromosome abnormalities, ranged from 6.12% to 13.86%, was correlated with the severity of the mental retardation. The second project (1988-1990) was mainly a pilot study for establishing newborn screening method of metabolic diseases. The chromosome analysis was carried out as a by-product because of the availability of blood samples. Of the 1,323 patients examined, the incidence of chromosome abnormalities was also correlated with IQ, with 7.87% for IQ 50-75 and 17.51% for IQ less than 50. The third project (1989-1992) was designed for the detection of fragile X patients and their relatives for the purpose of molecular analysis of the FMR-1 gene expression. We found 18 patients with fragile sites at Xq27.3 and 65 patients (11.6%) with other chromosome abnormalities. A follow-up study and genetic counseling were carried out for three fragile X probands and their relatives. Dried blood samples on filter papers from a family of six with three fragile X boys were analyzed by RT-PCR method. The three male patients did not express any appreciable amounts of FMR-1 transcripts, while their parents and sister were positive for the FMR-1 specific band. This assay may be applied for the mass screening of fragile X patients from the mentally retarded populations.
{"title":"中華民國小兒科醫學會第137屆學術演講會教育演講：先天性畸形－智障學童染色體篩檢及其追蹤研究","authors":"武光東","doi":"10.7097/APS.199404.0015","DOIUrl":"https://doi.org/10.7097/APS.199404.0015","url":null,"abstract":"This report summarizes the cytogenetic screening results of 2,353 mentally retarded school children conducted in the past 15 years through three research projects. The first project (1977-1981) was aimed at identifying the chromosome abnormalities from the 470 mentally retarded patients. The incidence of chromosome abnormalities, ranged from 6.12% to 13.86%, was correlated with the severity of the mental retardation. The second project (1988-1990) was mainly a pilot study for establishing newborn screening method of metabolic diseases. The chromosome analysis was carried out as a by-product because of the availability of blood samples. Of the 1,323 patients examined, the incidence of chromosome abnormalities was also correlated with IQ, with 7.87% for IQ 50-75 and 17.51% for IQ less than 50. The third project (1989-1992) was designed for the detection of fragile X patients and their relatives for the purpose of molecular analysis of the FMR-1 gene expression. We found 18 patients with fragile sites at Xq27.3 and 65 patients (11.6%) with other chromosome abnormalities. A follow-up study and genetic counseling were carried out for three fragile X probands and their relatives. Dried blood samples on filter papers from a family of six with three fragile X boys were analyzed by RT-PCR method. The three male patients did not express any appreciable amounts of FMR-1 transcripts, while their parents and sister were positive for the FMR-1 specific band. This assay may be applied for the mass screening of fragile X patients from the mentally retarded populations.","PeriodicalId":306859,"journal":{"name":"Acta paediatrica sinica","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1994-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129587958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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