Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc最新文献

NORMATIVE STANDARDS AND PATTERNING OF FAT AND MUSCLE IN WHITE AND BLACK NEWBORN INFANTS. 白人和黑人新生儿脂肪和肌肉的规范标准和模式。

Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc Pub Date : 1991-01-01

Jon M Brandt, G Andrew Allen, Merlin G Butler

{"title":"NORMATIVE STANDARDS AND PATTERNING OF FAT AND MUSCLE IN WHITE AND BLACK NEWBORN INFANTS.","authors":"Jon M Brandt, G Andrew Allen, Merlin G Butler","doi":"","DOIUrl":"","url":null,"abstract":"Due to the lack of normative data in newborns, we report fat and muscle patterning, and standards for the sums of fat and muscle areas and muscle circumferences for arm, forearm, thigh, and calf in white and black newborn infants that may have clinical application in the assessment of body composition in newborns. Significant differences were found between white males and white females in fatness patterning: white female newborns were larger for all 21 variables except height. Statistically significant differences (t test; p < 0.05) existed for five skinfold measurements (forearm, subscapular, suprailiac, thigh, medial calf), three limb fat areas (forearm, thigh, calf), and the sums of the skinfolds and fat areas despite similar limb circumferences. Black female newborns were larger than black males for five of the eight skinfolds (with a significant difference observed in medial calf skinfold), for all of the limb fat areas, and for the sums of the skinfolds and fat areas. Despite their larger skinfolds and fat areas, black females had smaller circumferences. No sex-related trends or significantly different variables were observed in the muscle patterning of white infants. Differences in muscle patterning were observed between black males and black females, with males having larger values for all 14 variables. Statistically significant differences were found between white and black infants, with white newborns having greater height, medial calf skinfold, and calf fat area.","PeriodicalId":90487,"journal":{"name":"Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258714/pdf/nihms-615889.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32906277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

INTRAFAMILIAL AND MIDPARENTAL-CHILD CORRELATIONS AND HERITABILITY ESTIMATES OF ANTHROPOMETRIC MEASUREMENTS IN PRADER-WILLI SYNDROME FAMILIES. 普拉德-威利综合症家庭中人体测量值的家庭内部和父母与子女之间的相关性和遗传率估计。

Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc Pub Date : 1990-01-01

Merlin G Butler, Judy L Haynes, F John Meaney

引用次数: 0

RESTING METABOLIC RATE IN PRADER-WILLI SYNDROME. 普拉德-威利综合症的静息代谢率。

Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc Pub Date : 1990-01-01

James O Hill, Mary Kaler, Bennett Spetalnick, George Reed, Merlin G Butler

{"title":"RESTING METABOLIC RATE IN PRADER-WILLI SYNDROME.","authors":"James O Hill, Mary Kaler, Bennett Spetalnick, George Reed, Merlin G Butler","doi":"","DOIUrl":"","url":null,"abstract":"Prader-Willi syndrome (PWS) may represent a genetic form of human obesity. The purpose of this study was to determine whether the relationship between resting metabolic rate and body weight/body composition was different in patients with PWS than in obese (body mass index 23-36) and lean (body mass index 15-20) controls. We determined body composition using bioelectrical impedance analysis (BIA) and skinfold thickness measurements in 36 subjects with PWS and in 31 controls (20 nonobese, 11 obese). The BIA measures of percentage of body fat were significantly correlated with those determined from skinfold thicknesses in all three groups. Resting metabolic rate (RMR) was measured in all lean and obese controls and in 22 of the 36 patients. Energy expenditure was compared among groups by comparing the regression relationship between RMR and either body weight or fat-free mass (FFM). The relationship between RMR and body weight and between RMR and FFM was different for patients with PWS than for lean and obese controls, who did not differ from each other. The nature of the relationship was such that patients with PWS had reduced rates of energy expenditure compared to controls, except for patients with the largest body mass and FFM. This suggests that a low energy expenditure exists initially for persons with PWS but may return to normal as obesity becomes greater. These results also suggest that reduced FFM is not the sole explanation for the lower energy expenditure seen in patients with PWS.","PeriodicalId":90487,"journal":{"name":"Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5001505/pdf/nihms812229.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34344188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

AMINO ACID LEVELS IN PRADER-WILLI SYNDROME AND OBESE INDIVIDUALS. prader-willi综合征和肥胖个体的氨基酸水平。

Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc Pub Date : 1990-01-01

Merlin G Butler, Joel E Murrell, Harry L Greene

{"title":"AMINO ACID LEVELS IN PRADER-WILLI SYNDROME AND OBESE INDIVIDUALS.","authors":"Merlin G Butler, Joel E Murrell, Harry L Greene","doi":"","DOIUrl":"","url":null,"abstract":"To determine if certain features (e.g., hypopigmentation) seen in persons with Prader-Willi syndrome (PWS) may be reflected in abnormalities of amino acid metabolism, fasting plasma amino acid levels were measured from 25 patients and compared with those in 17 obese individuals. Thirteen of the patients with PWS were previously identified by high-resolution analysis to have chromosome 15q deletion, while 12 had normal chromosomes. Compared with reference plasma levels, several amino acid levels were elevated in both patients and obese individuals. Aspartic acid, taurine, and glutamic acid levels were elevated (>2 Z score) in 44% of the patients with PWS but were increased in only one obese individual. The average phenylalanine and tyrosine levels were not different in the two groups. Significant differences in taurine, cystine, glutamic acid, citrulline, and aspartic acid levels were found. There was no correlation with age, degree of obesity (percentage of ideal body weight), and the degree of elevation of amino acids in either patients with PWS or obese individuals. Similarly, the degree of obesity in those with PWS was not associated with chromosome status. Several amino acid concentrations were abnormal in patients compared with our laboratory reference ranges, but many of these abnormalities were also present in obese individuals. Whether the amino acid changes simply reflect the altered eating habits of obese individuals or whether the altered profile may play a role in appetite or energy regulation is not known.","PeriodicalId":90487,"journal":{"name":"Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258711/pdf/nihms-615893.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32906275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

FASTING PLASMA LIPID, GLUCOSE, AND INSULIN LEVELS IN PRADER-WILLI SYNDROME AND OBESE INDIVIDUALS. prader-willi综合征和肥胖个体的空腹血脂、葡萄糖和胰岛素水平。

Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc Pub Date : 1990-01-01

Merlin G Butler, Larry L Swift, James O Hill

引用次数: 0