American journal of diseases of children (1960)最新文献

{"title":"Pathological case of the month. Wells' syndrome.","authors":"J Madden, R Lichenstein, E Alonsozana, E Gilbert-Barness","doi":"10.1001/archpedi.1993.02160360079024","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160360079024","url":null,"abstract":"","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1337-8"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360079024","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19237913","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":"Radiological case of the month. Proteus syndrome: benign angiolipomatous tumor with intraspinal extension.","authors":"C S Mitchell, B P Wood","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1335-6"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19237912","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":"Picture of the month. Cutaneous leishmaniasis.","authors":"G L Darmstadt, A T Lane, W W Tunnessen","doi":"10.1001/archpedi.1993.02160360081025","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160360081025","url":null,"abstract":"","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1339-40"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360081025","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19237914","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":"A room of one's own and the Pogo factor. More women in pediatrics.","authors":"P J Copple","doi":"10.1001/archpedi.1993.02160360019003","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160360019003","url":null,"abstract":"","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1277"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360019003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19239399","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":"Maltreatment of children born to cocaine-dependent mothers.","authors":"D R Wasserman,&nbsp;J M Leventhal","doi":"10.1001/archpedi.1993.02160360066021","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160360066021","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the relationship between maternal cocaine dependency and child maltreatment in a cohort of young children.</p><p><strong>Design: </strong>Historical cohort study at an urban, tertiary care medical center.</p><p><strong>Patients: </strong>47 infants, born between January and September 1989, whose mothers were regular users of cocaine during pregnancy, based on history and the results of newborn's urine toxicology screens. These cocaine-exposed infants were matched to a comparison group of 47 infants whose mothers did not use cocaine during pregnancy. Matching was on the basis of birth date, race, method of payment for the hospitalization, and marital status of the mother.</p><p><strong>Main outcome measures: </strong>Occurrence of maltreatment (physical abuse, sexual abuse, or neglect), and placement either in foster care or with a substitute caretaker.</p><p><strong>Results: </strong>By 24 months of life, maltreatment had occurred in 23% of the cocaine group vs 4% of the comparison group (risk ratio, 5.5; 95% confidence interval, 1.3 to 23.5). Physical abuse had occurred in 11% of the cocaine group vs 2% of the comparison group, while neglect had occurred in 11% vs 0% (P < .05). Changes in placement had occurred in 20% of the cocaine group vs 2% of the comparison group (risk ratio, 10.0; 95% confidence interval, 1.3 to 75.1). Of the 10 placements, only three were directly linked to an episode of maltreatment.</p><p><strong>Conclusions: </strong>Children identified during the neonatal period as regularly \"exposed\" to cocaine in utero are at a substantially increased risk both of maltreatment and of changes in the primary caretaker during the first 24 months of life.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1324-8"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360066021","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19237910","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 adrenal incidentaloma. A pediatric perspective.","authors":"E S Lightner,&nbsp;L S Levine","doi":"10.1001/archpedi.1993.02160360016002","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160360016002","url":null,"abstract":"<p><p>In our commentary, we have reviewed the literature on adrenal incidentalomas and specifically have tried to relate it to the pediatric population. The studies of others have shown that adrenal tumors are very common in patients with CAH (homozygote and heterozygote) and that these tumors are very rarely malignant and therefore should not routinely be surgically removed. In fact, we suggest that only under very rare circumstances is surgical removal justified. Perhaps, in the future, biochemical markers will allow us to distinguish between adrenal adenomas and carcinomas. We have tried to give broad guidelines for the care of patients with CAH with adrenal tumors, but these are guidelines only--they are not laws chiseled in stone. Finally, as radiological imaging is done more frequently and becomes even better at finding small adrenal tumors, this general topic will become increasingly relevant. We hope our thoughts will lead to lively discussion and useful studies in this \"newly discovered\" medical dilemma.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1274-6"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360016002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19239398","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":"Effects of methylphenidate on sleep in children with attention-deficient hyperactivity disorder. An activity monitor study.","authors":"E Tirosh,&nbsp;A Sadeh,&nbsp;R Munvez,&nbsp;P Lavie","doi":"10.1001/archpedi.1993.02160360055018","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160360055018","url":null,"abstract":"<p><strong>Objective: </strong>To assess the effects of methylphenidate hydrochloride on sleep patterns in children diagnosed as having attention-deficit hyperactivity disorder (ADHD).</p><p><strong>Design: </strong>A double-blind, controlled drug-placebo cross-over design.</p><p><strong>Setting: </strong>Home.</p><p><strong>Subjects: </strong>Ten children (aged 6 years 9 months to 12 years & months) diagnosed as having ADHD were consecutively recruited and compared with age- and sex-matched normal controls.</p><p><strong>Treatment: </strong>Methylphenidate hydrochloride (0.3 to 0.4 mg/kg) or placebo was administered at 7:30 AM.</p><p><strong>Measurements and results: </strong>Each child underwent activity monitoring at home during 6 days of no treatment (baseline) followed by placebo and methylphenidate treatment. The results of the three trial stages, as well as those of the 20 age- and sex-matched normal controls, were compared. A shorter total sleep duration was evident during the methylphenidate treatment compared with that of baseline and placebo treatment. The amount of quiet sleep was lower (however, not significantly) among the study group compared with controls, whereas no such difference was noted during methylphenidate treatment. Night-to-night sleep pattern stability was found. No other differences were found either between children with ADHD and controls or between on and off stages of methylphenidate treatment.</p><p><strong>Conclusions: </strong>These results support the notion that ADHD is a centrally generated disorder attributable to hypoarousal, which subsequently stimulates motor overactivity. Methylphenidate does not appear to affect sleep patterns adversely and possibly normalizes them in patients with ADHD.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1313-5"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360055018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19237907","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":"Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring.","authors":"M Alvarado,&nbsp;H N Bass,&nbsp;S Caldwell,&nbsp;M Jamehdor,&nbsp;A A Miller,&nbsp;P Jacob","doi":"10.1001/archpedi.1993.02160360033012","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160360033012","url":null,"abstract":"<p><strong>Objective: </strong>To describe a family in whom fluorescence in situ hybridization allowed for accurate diagnosis of Miller-Dieker syndrome in an at-risk pregnancy and determination of parental carrier status.</p><p><strong>Design: </strong>Retrospective case analysis and application of a new molecular tool to evaluate the family.</p><p><strong>Setting: </strong>Health maintenance organization. The family was followed up by the Departments of Medical Genetics, Pediatrics, and Obstetrics and Gynecology, Kaiser Permanente Medical Center, Panorama City, Calif.</p><p><strong>Participants: </strong>Members of a single family.</p><p><strong>Interventions: </strong>Clinical evaluation and neuroimaging studies of the proband. Prenatal diagnosis via ultrasonography and amniocentesis. Chromosomal evaluation of the couple and their offspring. In situ hybridization studies in both parents and an affected fetus.</p><p><strong>Measurements/main results: </strong>We describe a family in whom fluorescence in situ hybridization detected a submicroscopic deletion of the Miller-Dieker syndrome critical region 17p13.3 arising from a cryptic translocation in one of the parents. The proband was determined at birth owing to the presence of multiple congenital anomalies, including low birth weight, microcephaly, agenesis of the corpus callosum, lissencephaly, cerebral atrophy, unilateral ptosis, polydactyly, and omphalocele. High-resolution chromosome-banding analysis findings were normal in the parents and proband, who died at age 4 years. There were four subsequent pregnancies: two ended in first-trimester spontaneous abortion, and in the other two, large omphaloceles were detected in fetuses at 15 and 13 weeks' gestation. Both pregnancies were terminated. Fluorescence in situ hybridization probes for 17p13.3 had become available before the most recent pregnancy and were used to study parental and fetal cells. As a result, a balanced cryptic translocation between chromosome 17 and chromosome 19 was identified in the father: 46,XY,t(17;19)(p13.3q13.33). An unbalanced form of the translocation, involving a deletion of 17p13.3, was detected with fluorescence in situ hybridization in the fetus. This finding was in accordance with a clinical diagnosis of Miller-Dieker syndrome.</p><p><strong>Conclusions: </strong>Molecular cytogenetic technology should be used in cases of suspected Miller-Dieker syndrome when high-resolution cytogenetic analysis fails to detect del(17) (p13.3). Positive findings should be followed up with parental studies. In addition, omphalocele should be included among the list of malformations that make up the Miller-Dieker syndrome.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1291-4"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360033012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19239405","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":"Evidence of a major gene with pleiotropic action for a cardiovascular disease risk syndrome in children younger than 14 years.","authors":"D B Allison,&nbsp;S Heshka,&nbsp;S B Heymsfield","doi":"10.1001/archpedi.1993.02160360040014","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160360040014","url":null,"abstract":"<p><strong>Objective: </strong>To test the plausibility of the existence of a genetically based syndrome involving obesity, hypertension, and a central deposition of body fat.</p><p><strong>Design: </strong>Survey of a random stratified sample of the US population.</p><p><strong>Participants: </strong>Male and female children aged 13 years or younger (mean, 5.3 years; SD, 3.7 years; median, 4.0 years; range, 6 months to 13 years) were chosen from National Health and Nutrition Examination Survey II data.</p><p><strong>Interventions: </strong>None.</p><p><strong>Measurements/main results: </strong>Using multivariate commingling analysis, we evaluated the hypothesis that a major gene produces a syndrome involving the phenotypic indicators of body mass index (in kilograms per square meter), subscapular-to-triceps skinfold thickness ratio, systolic blood pressure, and diastolic blood pressure. Maximum likelihood estimation was used to test competing models. A model with three component distributions and unequal variance-covariance matrices fit significantly better than any competing model.</p><p><strong>Conclusions: </strong>Our findings support the existence of a distinct cardiovascular disease risk syndrome in children and suggest that it may be the result of a major gene with pleiotropic effects.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1298-302"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360040014","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19239407","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":"Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder.","authors":"A F Lewanda,&nbsp;M M Cohen,&nbsp;J Hood,&nbsp;S Morsey,&nbsp;M Walters,&nbsp;J L Kennedy,&nbsp;E W Jabs","doi":"10.1001/archpedi.1993.02160360048016","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160360048016","url":null,"abstract":"<p><p>The association of Apert syndrome with a translocation (2p-;Cq+) was previously reported in this journal. On reexamination using high-resolution chromosome banding, results showed both the patient and her unaffected father carry the balanced translocation (2;9)(p11.2;q34.2). This finding suggests the rearrangement is unlikely to be the cause of her disorder. Other chromosomal anomalies and genes known to be located at or near these breakpoints and a cytogenetic survey of patients with Apert syndrome are reviewed.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1306-8"},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360048016","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19239409","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}