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Biomedical subjects

M G Butler

Publications and source records attributed to M G Butler.

At least 145 records · Page 8Linked to original sources
PubMed1988

Metacarpophalangeal pattern profile analysis in fragile X syndrome.

We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X--fra (X), or Martin-Bell--syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with fra (X) syndrome compared with a sample of normal individuals produced a correct classification rate of 88% based on a function of 3 MCPP variables that may provide a useful tool in screening individuals for the fra (X) syndrome. Discriminant and correlation analyses of individuals with Sotos sequence and individuals with fra (X) syndrome did not identify MCPP similarities. Therefore, there was no MCPP evidence in our study of patients with Sotos sequence and fra (X) chromosome expression.

Adolescent↗
PubMed1988

The use of early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal fragile X chromosome diagnosis.

Early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal diagnosis were undertaken for the first time in a 17-week gestation fetus at risk for the fragile X [fra (X)] syndrome. Metaphase spreads from 300 fetal lymphocytes were examined within 5 days following PUBS, while approximately 5 weeks were required for the analysis of 148 amniocytes. The chromosomes were interpreted as normal (46,XX) and the fetus as fragile X-negative at the time of prenatal diagnosis. This was cytogenetically confirmed after delivery of a healthy term female infant. Our results suggest that early PUBS may become a useful adjunct to amniocentesis because of shorter culture time and earlier diagnosis.

Amniocentesis↗
PubMed1988

Do some patients with fragile X syndrome have precocious puberty?

We report on an 8 1/2-year-old white girl with fra (X) syndrome; she had mental deficiency, hyperactivity, speech disturbances, slightly prominent ears, mild joint laxity and 20% fra (X) expression. Additional findings include idiopathic precocious puberty and a right ovarian cyst. Ovarian cysts have been reported previously in heterozygous females, but to our knowledge idiopathic precocious puberty is a new finding in this syndrome. Whether precocious puberty is a coincidental finding in this patient or a previously unreported manifestation of the fra (X) syndrome is not clear.

Female↗
PubMed1988

P component in the synovium in rheumatoid and osteoarthritis.

P component is present in amyloid deposits, normal serum, and normal tissues in relation to elastic fibres. Its pathological role in inflammatory synovitis was investigated. Its distribution was determined immunohistologically in 33 synovia: 15 rheumatoid; seven osteoarthritic; seven traumatic controls; and four infected biopsy specimens. P component was present in two circumscribed distributions: extracellular fibrils in dense fibroelastic tissue of the more fibrotic synovia; and in the arterial wall, where it was confined to a single elastic lamina in some cases and in others showed reduplication and fragmentation. These were not related to amyloid material. It shows no disease specificity, but P component categorises the nature of the pathological reaction and is typically in biopsy specimens showing the development of chronic fibrosis. There was close codistribution of P component with elastic tissue, though this was not absolute. P component had a different distribution from C reactive protein (in synovial lining cell layer), and fibronectin, which was absent from fibrotic areas. Understanding the pathological interactions of P component may help elucidate why some synovial reactions remain inflammatory and other progress to chronic fibrosis.

Arthritis, Rheumatoid↗
PubMed1988

The use of skinfold measurements to judge obesity during the early phase of Prader-Labhart-Willi syndrome.

We report the first prospective longitudinal study of dietary intake, weight, height, and skinfold measurements during the early phase of four Prader-Labhart-Willi syndrome (PLWS) individuals (two males and two females). Although caloric intake ranged from 80 to 90 percent of recommended daily allowance during our study of the four PLWS infants, obesity still occurred. Our findings suggest that the onset of obesity in PLWS individuals occurs earlier than previously thought in spite of reduced caloric intake. The infants in our study reached the obese range judged by skinfold measurements greater than the 85th centile at an early age and before they were considered heavy based on weight for height criterion. We propose that skinfold measurements should be obtained on all individuals with PLWS and obesity judged by this criterion.

Body Height↗
PubMed1987

An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome.

Weight, height, sitting height, and 24 other anthropometric variables (5 body circumferences, skinfolds at 7 sites, 4 head dimensions, and 8 hand and foot measurements) were obtained on 38 Prader-Labhart-Willi syndrome (PLWS) individuals (21 with apparent chromosome 15 deletions and 17 nondeletion cases) with an age range of 2 weeks to 38 1/2 years. More than half of these individuals were measured on more than one occasion. The measurements confirmed the presence of short stature, small hands and feet, obesity, and narrow bi-frontal diameter in PLWS. No differences were found for the anthropometric measurements between the 2 chromosome subgroups. Inverse correlations were produced with linear measurements (eg, height, hand and foot lengths) and age, which indicated a deceleration of linear growth relative to normal individuals with increasing age.

Adolescent↗
PubMed1987

Metaphase chromosome folds and X-inactivation.

To evaluate the suggested nonrandom folding of Xq13-q21 (center of Barr body condensation) of the inactivated X chromosomes, metaphases from nine subjects with or without X chromosome abnormalities (eight females and one male) were investigated with RBG-staining. A significant increase (p less than .05) in the number of arm folds (Xq13-q21) of the late-replicating X chromosome, particularly in early to mid-metaphase, was observed in four of eight females. Therefore, the stage of chromosome contraction was an important factor with more folds observed at the centromeres and in longer chromosomes in early metaphase compared with mid- to late metaphase. X chromosome folds were present in cells of subjects treated with or without bromodeoxyuridine. While our study agrees with the relationship of Xq13-q21 fold with the X-inactivation center, the correlation of extended chromosomes and folding limits this method as a sole indicator of X-inactivation in routine mid-metaphase, but is useful in the analysis of early metaphase chromosomes.

Dosage Compensation, Genetic↗
PubMed1987

A 26-month-old child with Marden-Walker syndrome and pyloric stenosis.

We recently examined a 26-month-old boy with abnormal face, blepharophimosis, hypertelorism, apparently low-set ears, micrognathia, arachnodactyly, talipes equinovarus, and joint contractures. Subsequently he manifested failure to thrive, respiratory infections, and developmental delay. These congenital anomalies and associated findings are consistent with a diagnosis of the Marden-Walker syndrome. He also had mild pyloric stenosis and duodenal bands, not previously reported in this syndrome. This syndrome appears to be an autosomal recessive trait in some families. A summary of findings of the 16 previous published patients is presented.

Abnormalities, Multiple↗
PubMed1987

Metacarpophalangeal pattern profile analysis in Robinow syndrome.

We analyzed the metacarpophalangeal pattern profile (MCPP) on 15 individuals with Robinow syndrome and calculated a mean Robinow syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in the Robinow syndrome. Discriminant analysis of individuals with Robinow syndrome compared with a sample of normal individuals produces a function of 6 MCPP variable that may provide a useful tool for diagnosis.

Abnormalities, Multiple↗
PubMed1987

Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?

We report on a 12-yr-old female and a 14-yr-old male with Seckel syndrome. The 12-yr-old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of Fanconi anemia, a well-recognized autosomal recessive dwarfism syndrome with chromosome instability. Chromosome breakage analysis of both of our patients also indicated chromosome instability. We suggest that there may be a subgroup of Seckel syndrome patients with chromosome instability and/or hematological problems.

Abnormalities, Multiple↗
PubMed1987

Metacarpophalangeal pattern profile analysis in diastrophic dysplasia.

We analyzed the metacarpophalangeal pattern profile (MCPP) on 16 individuals with diastrophic dysplasia and calculated a mean syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in diastrophic dysplasia. Discriminant analysis of individuals with diastrophic dysplasia compared with a sample of normal individuals produced a function of 3 MCPP variables plus age that appears to be a useful diagnostic tool.

Abnormalities, Multiple↗
PubMed1987

Sister chromatid exchange analysis in the Prader-Labhart-Willi syndrome.

The number of sister chromatid exchanges (SCE) and cell kinetics in lymphocytes were investigated from 16 Prader-Labhart-Willi syndrome (PLWS) patients [8 with 15q12 deletion (4 females, 4 males; mean age = 12.9y with age range of 0.3 to 24y), and 8 non-deletion (2 females, 6 males; means age = 16.8y with age range of 5 to 26y)], 18 parents of PLWS patients and age-matched control individuals. The average SCE frequency and standard deviation in PLWS patients with and without the chromosome 15 deletion was 6.6 +/- 1.3 and 6.2 +/- 0.8, respectively. Therefore no significant difference in SCE frequency or replicative index was found between the two PLWS subgroups. There was also no significant difference in SCE frequency or replicative index between the 16 PLWS patients and age-matched control subjects. The average SCE frequency and standard deviation in 8 fathers who were previously identified to have donated the chromosome 15 with the deletion in the child was 7.5 +/- 1.2, which was not significantly different from 8.5 +/- 2.0 seen in age-matched control subjects. There was also no significant difference in the SCE frequency or replicative index of 18 parents of PLWS patients with and without the chromosome 15 deletion when compared with age-matched control subjects.

Adolescent↗
PubMed1987

Plasma immunoreactive beta-melanocyte stimulating hormone (lipotropin) levels in individuals with Prader-Labhart-Willi syndrome.

Plasma immunoreactive beta-melanocyte-stimulating hormone (beta-MSH) levels, which actually represent the combined concentrations of beta-lipotropin (beta-LPH) and gamma-LPH in normal individuals, were measured in 12 patients (6 males and 6 females with an average age of 16.8 years, range 4 months to 27 years) with the Prader-Labhart-Willi syndrome (PLWS). Five patients were previously identified with high-resolution analysis as having the 15q chromosomal deletion, whereas 7 patients had normal chromosomes. Hypopigmentation was observed in all 5 patients with the 15q deletion. Of the 7 individuals with normal chromosomes, two were hypopigmented and 5 had normal pigmentation. Fasting (6 to 12 hours) plasma samples were analyzed for immunoreactive beta-MSH in the 12 PLWS individuals. Plasma immunoreactive beta-MSH (LPH) levels were within the normal range in all 12 individuals. There was no significant difference in the plasma immunoreactive beta-MSH concentrations between patients who did and did not have the chromosomal deletion or in those who were or were not hypopigmented. Thus, a decrease in circulating plasma immunoreactive beta-MSH (LPH) does not appear to be the cause of the hypopigmentation observed in some patients with PLWS.

Adolescent↗
PubMed1987

Steroid metabolic disturbances in Prader-Willi syndrome.

We have studied steroid sulfate conjugates in serum samples from 17 children with Prader-Willi syndrome (PWS) by extraction, enzymatic hydrolysis and chromatography of the hydrolysed, free steroids. The chromatograms in patients with PWS can be divided into 2 classes. Ten (4 with the deletion on chromosome 15 and 6 without) of 17 had a normal pattern with dehydroepiandrosterone (DHEA) as the only steroid detected. However, 7 out of 17 (3 with the deletion and 4 without) had a very different pattern. The chromatogram derived from these hydrolysates had 5 major peaks. One of these was DHEA; a second peak was tentatively identified as 16 alpha-hydroxy-DHEA on the basis of column retention time and immunoreactivity. The remaining 3, more polar, compounds have not yet been identified. The presence of unusual steroid sulfoconjugates in serum may correlate with other features of PWS and may be the basis for dividing PWS into two separate disease states: a) PWS-1 associated with DHEA-S as the only sulfo-conjugate and b) PWS-2 associated with unusual sulfo-conjugates. One interesting possibility is that these sulfo-conjugates may have a hormonal function, even though no function has yet been recognized for DHEA-S. Then, PWS may be the common clinical manifestation of a variety of different defects in the sulfo-conjugate metabolic pathway.

Adolescent↗
PubMed1987

Craniofacial variation and growth in the Prader-Labhart-Willi syndrome.

A study of anthropometric variation and craniofacial growth in individuals with the Prader-Labhart-Willi syndrome (PLWS) illustrates the utility of anthropometry in clinical evaluation and research. Anthropometric measurements, including head length and breadth, minimum frontal diameter, and head circumference, were obtained on 38 PLWS individuals (21 with chromosome 15 deletions) with an age range from 2 weeks to 39 years. No anthropometric differences were found between the two chromosome subgroups. A relative deceleration in the growth of certain craniofacial dimensions (head circumference and length) is suggested by the negative correlations between age and Z-scores for the measurements. Raw values for minimum frontal diameter and head breadth were near or below the 5th percentile curve, while almost all values for head length and circumference fell within normal limits. The data support suggestions that dolichocephaly be considered an early diagnostic feature of PLWS. Furthermore, the status of narrow bifrontal diameter as a major feature of PLWS is confirmed.

Adolescent↗