American journal of diseases of children (1960)最新文献_第3页

Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2-year-old boy. 5岁半男孩肾上腺肿瘤合并未经治疗的21-羟化酶缺乏。

American journal of diseases of children (1960) Pub Date : 1993-12-01 DOI: 10.1001/archpedi.1993.02160360063020

V Bhatia, R Shukla, S K Mishra, R K Gupta

{"title":"Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2-year-old boy.","authors":"V Bhatia, R Shukla, S K Mishra, R K Gupta","doi":"10.1001/archpedi.1993.02160360063020","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160360063020","url":null,"abstract":"Objective: A 5 1/2-year-old boy presenting with virilization was diagnosed as having classic 21-hydroxylase deficiency complicated by an adrenal tumor. We attempted to document a reduction in the size of the tumor with glucocorticoid therapy.Design: Case study.Setting: Referral center.Intervention: Glucocorticoid therapy was instituted for congenital adrenal hyperplasia. Surgery for the adrenal mass was deferred, and the size of the mass was monitored by serial ultrasonography.Results: Baseline values of serum 17 alpha-hydroxyprogesterone (186.6 nmol/L) and testosterone (24.7 nmol/L [7.1 ng/mL]) were elevated. After instituting steroid treatment, 17 alpha-hydroxyprogesterone was suppressed (13.0 nmol/L), and testosterone remained undetectable on follow-up. However, the size of the mass increased during 6 months. Unilateral adrenalectomy performed at that time revealed a well-encapsulated adenoma in a hyperplastic gland.Conclusions: Untreated classic congenital adrenal hyperplasia may be complicated by an adrenal tumor even at a young age. Suppression of adrenal androgens by glucocorticoid therapy was not accompanied by regression of the tumor in our patient.","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1321-3"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360063020","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19237909","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: 5

The genetics of autoimmune diabetes. Approaching a solution to the problem. 自身免疫性糖尿病的遗传学接近解决问题的方法。

American journal of diseases of children (1960) Pub Date : 1993-12-01 DOI: 10.1001/archpedi.1993.02160360024011

W E Winter, T Chihara, D Schatz

引用次数: 15

Genetic diagnosis and treatment. Ethical considerations. 基因诊断和治疗。伦理方面的考虑。

American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350064009

N Fost

引用次数: 16

The genetics of infantile hypertrophic pyloric stenosis. A reanalysis. 婴儿肥厚性幽门狭窄的遗传学。再分析。

American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350077012

L E Mitchell, N Risch

{"title":"The genetics of infantile hypertrophic pyloric stenosis. A reanalysis.","authors":"L E Mitchell, N Risch","doi":"10.1001/archpedi.1993.02160350077012","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350077012","url":null,"abstract":"Objective: To determine whether the existing family data for infantile hypertrophic pyloric stenosis (IHPS) are sufficient for the purposes of establishing the mode of inheritance of this condition.Design: Reanalysis of the familial aggregation patterns exhibited by IHPS, using data from several published family studies.Conclusions: Due to several limitations of the available family data for IHPS, the results of this analysis should be interpreted cautiously. Within the context of these limitations, the familial recurrence pattern among monozygotic cotwins and more remote relatives of IHPS probands was found to be inconsistent with generalized single major locus inheritance. The familial recurrence pattern of IHPS is, however, compatible with multifactorial threshold inheritance or the effects of multiple interacting loci. Under a model of multiple interacting loci, no single locus can account for more than a fivefold increase in the risk to first-degree relatives of IHPS probands. In contrast to several earlier reports, this analysis does not support the existence of a maternal factor that contributes to the risk of IHPS in the offspring of affected females.","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1203-11"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350077012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19226672","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: 120

Human cytogenetics. A current overview. 人类细胞遗传学。当前概述。

American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350033005

M M Cohen, L S Rosenblum-Vos, G Prabhakar

引用次数: 26

Gene therapy. 基因治疗。

American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350041006

F Levine, T Friedmann

引用次数: 0

Direct DNA testing for fragile X syndrome. 对脆性X染色体综合征进行直接DNA检测。

American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350105016

F J Ramos, D L Eunpu, B Finucane, E G Pfendner

{"title":"Direct DNA testing for fragile X syndrome.","authors":"F J Ramos, D L Eunpu, B Finucane, E G Pfendner","doi":"10.1001/archpedi.1993.02160350105016","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350105016","url":null,"abstract":"The recent identification of an abnormally amplified trinucleotide (cytosine guanine guanine) repeat in the fragile X gene (FMR-1) of males with fragile X syndrome and their carrier mothers allows the study of the mutation in individuals at risk. In this report, data on 396 patients and 35 normal controls are reported. Included in this sample are patients with no known family history of fragile X syndrome or mental retardation for whom the risks of fragile X syndrome are unclear. All 39 cytogenetically positive affected males and six females had the full mutation, as represented by a restriction fragment size increase (delta) of 500 base pairs (bp) or more within the cytosine guanine guanine repeat-bearing fragment of the FMR-1 gene; and all 16 of the normal obligate carrier females bore the premutation, as demonstrated by a delta of 100 to 500 bp. Of 124 patients (62 males and 62 females) with a family history of fragile X syndrome, five (8%) of the males and 25 (40%) of the females had the premutation. Five (2.2%) of the 231 mentally impaired patients with no confirmed family history of fragile X syndrome were found to have the full mutation. Twelve (33%) of 36 mentally impaired males and one (20%) of five females with unknown family history were found to carry an amplified cytosine guanine guanine repeat. Using this technique, we also reevaluated risk assessments previously generated by linkage analysis and unambiguously determined the carrier status of individual family members.","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1231-5"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350105016","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18901704","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: 4

Sickle cell anemia. Beta s gene cluster haplotypes as genetic markers for severe disease expression. 镰状细胞性贫血。β s基因簇单倍型作为严重疾病表达的遗传标记。

American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350071011

D Powars, A Hiti

{"title":"Sickle cell anemia. Beta s gene cluster haplotypes as genetic markers for severe disease expression.","authors":"D Powars, A Hiti","doi":"10.1001/archpedi.1993.02160350071011","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350071011","url":null,"abstract":"Identification of the beta s gene cluster haplotype and alpha-gene status provides a useful tool for the detection of high-risk patients with sickle cell anemia. Analysis of the relationship of the long-term clinical course to the above parameters has revealed that those with the haplotype designated Senegal have decreased severity, those with the Benin haplotype have intermediate severity, and those with the Central African Republic (CAR) haplotype have the most severe clinical expression. Further modulation of the clinical course occurs with the coinheritance of alpha-thalassemia-2. In both Africa and the United States, the CAR beta s haplotype increased the risk (relative risk, 2.25; 95% confidence interval, 1.41 to 3.87) of developing a complication and death at an early age. Detection of the CAR haplotype identifies the child with sickle cell anemia at risk for a rapid rate of progression of sickle-induced microvasculopathy, ultimately leading to irreversible organ damage during the first three decades of life. In patients with the CAR haplotype, potential curative therapy, such as bone marrow transplantation or gene insertion, should be seriously considered during childhood, before organ failure is clinically evident.","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1197-202"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350071011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19226671","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: 79

Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype. Velo-cardio-facial综合症。家族内表型变异。

American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350086013

S D McLean, H M Saal, N B Spinner, B S Emanuel, D A Driscoll

引用次数: 35

Modern diagnosis and treatment of Gaucher's disease. 戈谢病的现代诊断与治疗。

American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350049007

E Beutler

引用次数: 34