A new method of hydrolysis for the identification of acid glycoprotein.
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Animals↗
Biomedical subjects
M G Butler
Publications and source records attributed to M G Butler.
Photoanthropometric analysis of individuals with the fragile X syndrome.
A photoanthropometric method, which enables an objective description of facial structures, was used to examine 31 boys with the fragile X or Martin-Bell syndrome below the age of 12 years. The age range was 1.5 to 12 years with an average age of 6.5 years. Facial parameters were measured from strict frontal and profile photographs of fra(X) syndrome boys and compared with other facial measurements from the same face (e.g. mouth width vs. bizygomatic diameter). We studied 18 photoanthropometric facial parameters following the protocol established by Stengel-Rutkowski et al [1984]. Fourteen indices were calculated and compared with photoanthropometric index standards for age, established from normal children between 0 and 12 years [Stengel-Rutkowski et al, 1984]. Two of the fourteen craniofacial indices, broad palpebral fissures and decreased inner canthal distance, were significantly abnormal.
Anthropometry↗
Anthropometric comparison of mentally retarded males with and without the fragile X syndrome.
An anthropometric survey of 41 variables (weight, height, 10 linear, 4 breadth, 22 craniofacial, 2 skinfold, and testicular volume), including multivariate discriminant analysis, was undertaken on 110 mentally retarded males (39 with and 71 without the fra(X) syndrome). The mean Z scores of the fra(X) syndrome males fell between -2.00 and 8.38 for bizygomatic diameter and testicular volume, respectively, and the range of the mean Z scores of the non-fra(X) males was from -2.64 to 2.26 for hand breadth and testicular volume, respectively. There was a statistically significant difference (P less than .05) between fra(X) and non-fra(X) males for 18 measurements (weight, height, 7 linear, 2 breadth, 5 craniofacial, 1 skinfold, and testicular volume), with the greater measurements (excluding bizygomatic diameter) found in fra(X) males. Sitting height, knee-buttock length, middle finger length, and hand length were negatively correlated (P less than .05) with age, whereas bizygomatic diameter, ear length, and ear width were positively correlated (P less than .05) with age and head circumference, head length, and outer canthal distance were positively correlated (P less than .05) with fra(X) chromosome expression in the fra(X) males. Triceps and subscapular skinfold thicknesses were negatively correlated (P less than .05) with age, whereas ankle breadth, ear length, ear width, and nose length were positively correlated (P less than .05) in the non-fra(X) males. Discriminant analysis of 34 fra(X) and 71 non-fra(X) males resulted in a discriminant function based on 6 of 17 anthropometric variables and age.(ABSTRACT TRUNCATED AT 250 WORDS)
Adolescent↗
Telomerase activity in skeletal sarcomas.
BACKGROUND: Telomerase is a ribonucleoprotein that adds TTAGGG nucleotide repeats onto the ends of eukaryotic chromosomes to maintain telomere integrity. Somatic cells do not express telomerase and stop dividing when the chromosomal ends are shortened critically after many cell divisions. Immortal cell lines and cancer cells apparently have telomerase activity that contributes to an unlimited number of cell cycles. The purpose of our study is to investigate whether telomerase activity is expressed in primary malignant tumors of the skeletal system when compared to adjacent normal tissue. METHODS: Fresh tumor and normal tissue was collected from 14 patients (10 males, 4 females; age range, 8 to 76 years) and protein extraction performed. The tumors included seven osteosarcomas (three examined before and after chemotherapy), two chondrosarcomas, two spindle cell tumors, one hemangiopericytoma, one chordoma, and one adamantinoma. Telomerase activity was analyzed by using a highly sensitive polymerase chain reaction (PCR)-based assay (telomere repeat amplification protocol [TRAP]). RESULTS: Telomerase activity was found in 8 of 14 sarcoma patients (57%) using the TRAP assay. Compared to HeLa cell extract (positive control), telomerase activity in the tumor specimen ranged from 0 (in osteosarcoma) to 11.7% (in hemangiopericytoma). There was variation in the number of telomeric repeats generated by telomerase. At least five telomeric bands (e.g. 50, 56, 62, 68, 74 bp) in a ladder pattern had to be present before telomerase activity was considered positive in our analysis. CONCLUSIONS: Telomerase activity may be an oncogenic sustaining event helping to maintain the transformed phenotype seen in malignant tumors of the bone. The degree of telomerase activity varies among skeletal malignancies, but was less than that observed in HeLa cells. The majority of osteosarcomas showed no telomerase activity.
Adolescent↗
Sister-chromatid exchange in 4 human races.
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Adult↗
Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities.
PURPOSE: To determine gene expression of five imprinted genes or transcripts from the 15q11-q13 chromosome region using reverse transcription polymerase chain reaction (RT-PCR) in a relatively large survey of Prader-Willi syndrome (PWS) and control subjects with several different chromosome 15 abnormalities. METHODS: RT-PCR was undertaken on mRNA isolated from tissue (e.g., mostly lymphoblasts) from 38 PWS and 10 control subjects. DNA primers were used for five imprinted genes or transcripts (ZNF127, SNRPN, PAR5, IPW, and PAR1) from 15q11-q13 and fibrillin, a control gene from 15q21. RESULTS: One PWS subject with maternal disomy 15 showed weak but detectable expression of PAR1, whereas SNRPN expression was detected in two PWS subjects [one with the 15q11-q13 deletion and one with a t(15;15) karyotype and maternal disomy 15], and the remaining typical PWS subjects showed no expression of the imprinted genes or transcripts. CONCLUSION: No obvious clinical differences were identified in those PWS subjects with weak expression of genes compared with those showing no expression. Although the reason(s) for weak expression is unknown, possible explanations include relaxation of imprinting caused by failure to reset the imprinted genes or transcripts in the maternal germ line or by postzygotic gene expression or undetected chromosome 15 mosaicism in the deletion PWS subjects. The timing, tissue source, and other factors relating to partial expression of genes that are thought to be imprinted may play a role in clinical variability and allow for a better understanding of molecular mechanisms in PWS and other abnormalities of proximal chromosome 15q.
Adolescent↗
Ultrastructural localization of antigens recognized by the monoclonal antibodies MB1, MB2, MT1, UCHL1, and TAL 1B5.
In this study the ultrastructural localization of antigens recognized by novel antibodies that allow the recognition of lymphoid antigens in conventionally fixed and wax-embedded sections was investigated. MT1, MB1, and UCHL1 recognize antibodies restricted to the cell membrane, whereas the antigen recognized by MB2 is present only in the cytoplasm. These distributions are different from that of immunoreactivity with TAL 1B5 (anti-HLA DR), which is present both on the cell membrane and in the cytoplasm. The significance of these findings is discussed.
Antibodies, Monoclonal↗
Cryptophthalmos with an orbital cyst and profound mental and motor retardation.
The cryptophthalmos syndrome generally consists of cryptophthalmia, dyscephaly (cleft lip and palate, nasal and ear defects, meningoencephaloceles, etc.), syndactyly, and urogenital malformations. This disorder is rare. Approximately 55 cases have been reported, with only a few described in the American literature. A three-year-old boy with this rare syndrome is described. Major clinical findings include: asymmetric bilateral cryptophthalmos, unilateral orbital cyst of the nasofrontal area, bilateral anophthalmos, right choanal atresia, right microtia, right auditory canal atresia, hypodontia, ankyloglossia, cartilaginous synchondroses of the cervical vertebrae, and bilateral acetabular dysplasia. Striking features of this case, in addition to the above, were profound mental and motor retardation. Syndactyly and renal anomalies were not observed.
Abnormalities, Multiple↗
Visual capacity and Prader-Willi syndrome.
PURPOSE: Prader-Willi syndrome (PWS) refers to a genetic disorder induced by an anomaly on chromosome 15 occurring with a frequency of one in 10,000 to 20,000. It is characterized by a unique set of features including infantile hypotonia, obesity in childhood, small hands and feet, hypogonadism, and mental retardation. Reported here are the results of ophthalmic examinations of persons with PWS, together with results from controls comparable in age, percentage of body fat, and intelligence. These data bear on the hypothesis that the ocular anomalies in PWS are unique to this syndrome. METHOD: A comprehensive investigation of PWS brought children and adults to Vanderbilt University for extended testing, which included an ophthalmic examination. Genetic analysis determined unequivocally the PWS diagnosis and identified subgroups-deletion and maternal disomy. A group of persons without PWS but generally comparable in age, body composition, and intelligence served as controls. RESULTS: Significant differences between the deletion and disomy subgroups were not found for the clinical ophthalmic measures. The incidence of anomalies in the combined PWS was similar to those reported in previous studies. A similar pattern was present in the control group except for myopia and stereopsis. An effect of genetic subgroup, however, was observed for random element stereopsis with the maternal disomy group having a greater degree of impairment. CONCLUSION: The overall similarity between the PWS and control groups on all measures except myopia and stereopsis suggest that many of the anomalies in PWS found in prior studies are due to factors inherent in a general dysfunctional population, rather than reflective of an ocular signature unique to PWS.
Adult↗
Renal and urinary tract abnormalities associated with chromosome aberrations.
The frequency of malformations of the kidney and urinary tract is much higher in patients with chromosome aberrations than in the general population. Sixty to 100% of "cat-eye" syndrome, 60 to 80% of Turner, 75% of trisomy 8, 33 to 70% of trisomy 18, 50 to 60% of trisomy 13, and over 50% of triploidy and tetraploidy patients may have such abnormalities. Renal and urinary tract malformations should be looked for in all patients with chromosome aberrations. Moreover, a chromosome study is indicated in any fetus with an ultrasonographic evidence of urinary tract abnormality.
Chromosome Aberrations↗
Chromosome fragile sites in mentally retarded males: increased incidence with seizures and diphenylhydantoin therapy.
Chromosome fragile site or lesion data were examined in 154 institutionalized mentally retarded males with or without seizures or treated with anti-seizure medication. Blood lymphocytes were cultured using three different cell culture conditions and the incidence of specific chromosome fragile sites (10q25, 16q22, and 12q23) or lesions determined. Increased fragile sites were seen in mentally retarded males with seizures compared to those without seizures in cells grown in folate-deplete Medium 199. Those with seizures and treated with diphenylhydantoin had a higher incidence of induced fragile sites (p < 0.001) relative to similar patients treated with anti-seizure medication other than diphenylhydantoin. These results suggest that a cohort of patients with mental retardation and seizures are more likely to have induced cytogenetic changes when treated with diphenylhydantoin than mentally retarded individuals without seizures.
Adolescent↗