American journal of diseases of children (1960)最新文献_第5页

Clinical correlates of chromosome 15 deletions and maternal disomy in Prader-Willi syndrome. Prader-Willi综合征中15号染色体缺失与母体二体的临床相关性。

American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350091014

L W Lai, R P Erickson, S B Cassidy

{"title":"Clinical correlates of chromosome 15 deletions and maternal disomy in Prader-Willi syndrome.","authors":"L W Lai, R P Erickson, S B Cassidy","doi":"10.1001/archpedi.1993.02160350091014","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350091014","url":null,"abstract":"We conducted restriction fragment length polymorphism and methylation pattern analyses on 26 typical and atypical patients with Prader-Willi syndrome who did not have a cytogenetically detectable 15q11-13 deletion and on four patients who did have this deletion and were clinically atypical. Maternal disomy for chromosome 15 was identified in 12 patients and paternal deletions in 15q11-13 were found in three cases. Patients with chromosome 15 abnormalities had typical or near typical presentations, based on published diagnostic criteria. Most of the absent criteria in this group were age-dependent features. The remaining 15 patients, including four previously thought to have a cytogenetically apparent 15q11-13 deletion, had neither chromosome 15 molecular abnormality, and these patients were atypical. Patients with maternal disomy had advanced maternal age, suggesting that nondisjunction is part of the etiology of uniparental disomy. This study suggests that molecular diagnosis is critical in patients with Prader-Willi syndrome who appear clinically atypical or who lack a cytogenetically detectable 15q deletion. Methylation pattern analysis is a useful adjunct diagnostic tool for Prader-Willi syndrome.","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1217-23"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350091014","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18901703","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}

引用次数: 21

State of the art of biochemical genetics. 生化遗传学的最新进展。

American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350027004

P Levy, E Shapira

引用次数: 1

The dangers of illegal child labor. 非法童工的危险。

American journal of diseases of children (1960) Pub Date : 1993-10-01 DOI: 10.1001/archpedi.1993.02160340015002

P J Landrigan, R Belville

引用次数: 6

Child abuse, sudden infant death syndrome, and unexpected infant death. 虐待儿童、婴儿猝死综合症和婴儿意外死亡。

American journal of diseases of children (1960) Pub Date : 1993-10-01 DOI: 10.1001/archpedi.1993.02160340083019

J L Emery

引用次数: 60

Pathological cases of the month. Dystrophic calcification. 本月病理病例。营养不良的钙化。

American journal of diseases of children (1960) Pub Date : 1993-10-01

J F Greally, A Torell, D Mack, E Gilbert-Barness

引用次数: 0

Intravenous pentazocine and methylphenidate abuse during pregnancy. Maternal lifestyle and infant outcome. 妊娠期间静脉注射戊唑嗪和哌甲酯滥用。母亲的生活方式和婴儿的结局。

American journal of diseases of children (1960) Pub Date : 1993-10-01 DOI: 10.1001/archpedi.1993.02160340048012

V D Debooy, M M Seshia, M Tenenbein, O G Casiro

{"title":"Intravenous pentazocine and methylphenidate abuse during pregnancy. Maternal lifestyle and infant outcome.","authors":"V D Debooy, M M Seshia, M Tenenbein, O G Casiro","doi":"10.1001/archpedi.1993.02160340048012","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160340048012","url":null,"abstract":"Objective: To report the effects of intravenous abuse of pentazocine hydrochloride and methylphenidate hydrochloride during pregnancy.Design: Retrospective chart review.Patients: All pregnant women and their offspring, whose hospital records indicated prenatal abuse of pentazocine and methylphenidate during the 2-year study period.Results: The median for maternal age was 22 years and the median number of prenatal visits was two. Twenty mothers had sexually transmitted diseases, 27 abused alcohol, 10 abused other drugs, and all smoked cigarettes. Eight infants were premature, and 12 were growth retarded. Four infants had congenital anomalies: fetal alcohol syndrome (two [twins]), structural heart defect (one), and polydactyly (one). Eleven infants were treated for neonatal abstinence syndrome. Seventeen infants had normal developmental quotients, and four had low-normal developmental quotients.Conclusions: Intrauterine exposure to pentazocine and methylphenidate appears to be associated with prematurity, growth retardation, and signs of neonatal withdrawal, but not with any particular teratogenic anomaly or severe developmental delay.","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 10","pages":"1062-5"},"PeriodicalIF":0.0,"publicationDate":"1993-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160340048012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18695814","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}

引用次数: 31

The role of bacterial adhesins in the outcome of childhood urinary tract infections. 细菌黏附素在儿童尿路感染结局中的作用。

American journal of diseases of children (1960) Pub Date : 1993-10-01 DOI: 10.1001/archpedi.1993.02160340076018

C E Johnson, J N Maslow, D C Fattlar, K S Adams, R D Arbeit

{"title":"The role of bacterial adhesins in the outcome of childhood urinary tract infections.","authors":"C E Johnson, J N Maslow, D C Fattlar, K S Adams, R D Arbeit","doi":"10.1001/archpedi.1993.02160340076018","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160340076018","url":null,"abstract":"Objectives: To compare the efficacy of 3-day vs 10-day treatment with a combination of amoxicillin and clavulanate potassium for children with uncomplicated urinary tract infections and to determine the role of host factors, including vesicoureteral reflux, and of bacterial virulence factors, including adhesins, in treatment outcome.Design: Randomized, double-blind, controlled trial.Setting: A pediatric infectious diseases clinic at an urban medical center.Patients: Thirty-seven children with uncomplicated urinary tract infections.Interventions: Treatment with 3 days or 10 days of antibiotics at a dosage of 20 mg/kg per day of amoxicillin and 5 mg/kg per day of clavulanate potassium in three divided doses.Measurements and main results: The success rate for 10-day treatment was 82% (14/17) compared with 55% (11/20) for 3-day treatment (P = .09). Among the 35 patients infected with Escherichia coli, all 10 patients infected with adhesin-negative isolates were treated successfully regardless of the duration of treatment, whereas only 14 (56%) of the 25 infections involving adhesin-positive isolates were clinically cured (P = .015). Two of the three failures in the 10-day treatment group were in patients with reflux.Conclusions: We conclude that 3-day treatment with amoxicillin and clavulanate is insufficient for afebrile childhood urinary tract infections and that both bacterial and host factors affect treatment outcome.","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 10","pages":"1090-3"},"PeriodicalIF":0.0,"publicationDate":"1993-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160340076018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19098522","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}

引用次数: 20

Brucellosis presenting as prolonged fever and hemophagocytosis. 布鲁氏菌病表现为持续发热和噬血症。

American journal of diseases of children (1960) Pub Date : 1993-10-01 DOI: 10.1001/archpedi.1993.02160340023005

C H Ullrich, R Fader, J B Fahner, S D Barbour

引用次数: 11

Radiological cases of the month. Juvenile nephronophthisis. 本月放射学病例。青少年nephronophthisis。

American journal of diseases of children (1960) Pub Date : 1993-10-01 DOI: 10.1001/archpedi.1993.02160340103023

D L Blowey, U Alon, S Hellerstein, B A Warady, B P Wood

引用次数: 0

Radiological cases of the month. Presacral ganglioneuroma. 本月放射学病例。Presacral星形胶质细胞瘤。

American journal of diseases of children (1960) Pub Date : 1993-10-01

J P Spirnak, B P Wood

引用次数: 0