scholarly journals Bovine Plasma β-Mannosidase Activity and Its Potential use for β-Mannosidosis Carrier Detection

1992 ◽  
Vol 4 (4) ◽  
pp. 434-440 ◽  
Author(s):  
Kevin T. Cavanagh ◽  
Margaret Z. Jones ◽  
Bruce Abbitt ◽  
Ronald Skinner
Keyword(s):  
Enzyme Activity ◽  
Gene Dosage ◽  
Low Risk ◽  
Carrier Detection ◽  
Biological Factors ◽  
Gene Dosage Effect ◽  
Bovine Plasma ◽  
The Mean ◽  
Potential Use ◽  
Selection Of

Plasma β-mannosidase activities were determined for Salers cattle from 8 herds as an evaluation of this method for detection of β-mannosidosis heterozygotes. Several biological factors, such as age, gender, herd, and risk of being a β-mannosidosis carrier, were considered in this study. The mean enzyme activity for obligate heterozygotes (n = 8) was 55 U/ml (range = 43–65 U/ml), which was 59% of the mean enzyme activity for cattle that were low risk for being a carrier. These data indicate that bovine β-mannosidosis is characterized by a gene dosage effect. The analytical and biological variation of plasma β-mannosidase activity that was observed necessitates limiting the test to adult fullblood/purebred Salers cattle within a herd. Plasma β-mannosidase analysis provides important information for intraherd selection of Salers cattle that are heterozygous for β-mannosidosis.

Relationship between pathological features, HER2 protein expression and HER2 and CEP17 copy number in breast cancer: biological and methodological considerations

2010 ◽  
Vol 64 (3) ◽  
pp. 200-207 ◽  
Author(s):  
Kathleen Lambein ◽  
Marleen Praet ◽  
Ramses Forsyth ◽  
Rudy Van den Broecke ◽  
Geert Braems ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Copy Number ◽  
Gene Dosage ◽  
In Situ Hybridisation ◽  
Her2 Status ◽  
Fluorescence In Situ Hybridisation ◽  
Gene Dosage Effect ◽  
The Mean ◽  
Methodological Considerations ◽  
Dual Probe

AimsA few reports have assessed HER2 status in breast cancer by both dual-probe fluorescence in situ hybridisation (FISH) and immunohistochemistry (IHC) in an unselected and consecutive fashion, but CEP17 and HER2 copy number were not evaluated separately in these studies. Therefore, the aim of this study was to perform FISH testing for HER2 in a large number of breast tumours, irrespective of the IHC scores, which were also determined in all cases.MethodsBoth FISH and IHC were applied to 200 tumours from 196 consecutive patients who underwent resection of primary breast cancer with the sentinel procedure and/or axillary dissection. Not only the ratio, but also mean HER2 and CEP17 copy number were determined and used in statistical analyses to evaluate relationships between FISH, IHC and clinicopathological features.ResultsThe amplification status based solely on HER2 signals was 98% concordant with results of dual-probe FISH. In non-amplified tumours, the mean CEP17 and HER2 copy number correlated, possibly because of cell cycling. Amplified tumours were histopathologically more aggressive than non-amplified tumours, and features of aggressiveness increased with the mean HER2 copy number. In both amplified and non-amplified tumours, a gene dosage effect was observed: an increase in the mean HER2 copy number was associated with a higher IHC score.ConclusionsThis working method and analysis enabled new insights to be obtained into the pathobiology of HER2 in breast cancer. The findings may be helpful in optimising the methodology of HER2 testing.

MOUSE MUTANT DEFICIENT IN d-AMINO ACID OXIDASE ACTIVITY

Genetics ◽  
1983 ◽  
Vol 103 (2) ◽  
pp. 277-285 ◽  
Author(s):  
Ryuichi Konno ◽  
Yosihiro Yasumura
Keyword(s):  
Enzyme Activity ◽  
Amino Acid ◽  
Oxidase Activity ◽  
Null Allele ◽  
Gene Dosage ◽  
Autosomal Gene ◽  
Acid Oxidase ◽  
Wild Type ◽  
Amino Acid Oxidase ◽  
Gene Dosage Effect

ABSTRACT d-Amino acid oxidase activity in the kidney homogenates of mice of seven strains was measured to search for a mutant for this enzyme. There was a consistent sex difference in the enzyme activity in these strains: male mice showed higher levels of the enzyme activity than females. In contrast to other strains, some mice of the ddY strain did not possess enzyme activity. This trait was inheritable, and a mouse stock without enzyme activity (DAO-) was established. The allele (Dao-1c) carried by the DAO- mice was recessive and behaved as a single autosomal gene in inheritance. Heterozygous mice for this gene (Dao-1  +/Dao-1c) showed nearly half the enzyme activity of the wild-type homozygotes (Dao-1  +/Dao-1  +), suggesting that Dao-1c is a null allele and that there is a gene dosage effect on the enzyme activity.

scholarly journals A STUDY OF ENZYME ACTIVITIES IN A DOSAGE SERIES OF THE LONG ARM OF CHROMOSOME ONE IN MAIZE

Genetics ◽  
1979 ◽  
Vol 92 (4) ◽  
pp. 1211-1229
Author(s):  
James A Birchler
Keyword(s):  
Enzyme Activity ◽  
Gene Dosage ◽  
Dry Weight ◽  
B Chromosome ◽  
Chromosome 1 ◽  
Activity Levels ◽  
Structural Locus ◽  
Gene Dosage Effect ◽  
The One ◽  
Number Of Cells

ABSTRACT The enzyme activity levels of alcohol, malate, isocitrate, glucose-6-phosphate and 6-phosphogluconate dehydrogenases were determined in mature maize scutella in a series of one to four doses of the long arm of chromosome 1, produced by the B-A translocation 1La. Although the Adh structural locus was varied, ADH levels did not exhibit a gene-dosage effect. The levels of GGPDH, GPGDH and IDH were negatively correlated with the dosage of 1L. MDH was unresponsive. The esterase-8 enzyme, whose structural locus was demonstrated to be elsewhere in the genome, was also negatively correlated with 1L dosage. The portion of the B chromosome involved in the translocation was shown to have no effect on the enzyme levels. Measurements of cell size and hydrolysable DNA per mg dry weight revealed no change in the number of cells through the one, two and three dose series. The topic of enzyme alterations in aneuploids is reviewed.

Multi-Center Study of Thromboplastin Calibration Precision – Influence of Reagent Species, Composition, and International Sensitivity Index (ISI)

1993 ◽  
Vol 69 (01) ◽  
pp. 035-040 ◽  
Author(s):  
A M H P van den Besselaar ◽  
R M Bertina
Keyword(s):  
Oral Anticoagulants ◽  
International Normalized Ratio ◽  
The Other ◽  
World Health ◽  
Rabbit Brain ◽  
Sensitivity Index ◽  
Bovine Plasma ◽  
Significant Difference ◽  
The Mean ◽  
International Sensitivity Index

SummaryFour thromboplastin reagents were tested by 18 laboratories in Europe, North-America, and Australasia, according to a detailed protocol. One thromboplastin was the International Reference Preparation for ox brain thromboplastin combined with adsorbed bovine plasma (coded OBT/79), and the second was a certified reference material for rabbit brain thromboplastin, plain (coded CRM 149R). The other two thromboplastin reagents were another rabbit plain brain thromboplastin (RP) with a lower ISI than CRM 149R and a rabbit brain thromboplastin combined with adsorbed bovine plasma (RC). Calibration of the latter two reagents was performed according to methods recommended by the World Health Organization (W. H. O.).The purpose of this study was to answer the following questions: 1) Is the calibration of the RC reagent more precise against the bovine/combined (OBT/79) than against the rabbit/plain reagent (CRM 149R)? 2) Is the precision of calibration influenced by the magnitude of the International Sensitivity Index (ISI)?The lowest inter-laboratory variation of ISI was observed in the calibration of the rabbit/plain reagent (RP) against the other rabbit/plain reagent (CRM 149R) (CV 1.6%). The highest interlaboratory variation was obtained in the calibration of rabbit/plain (RP) against bovine/combined (OBT/79) (CV 5.1%). In the calibration of the rabbit/combined (RC) reagent, there was no difference in precision between OBT/79 (CV 4.3%) and CRM 149R (CV 4.2%). Furthermore, there was no significant difference in the precision of the ISI of RC obtained with CRM 149R (ISI = 1.343) and the rabbit/plain (RP) reagent with ISI = 1.14. In conclusion, the calibration of RC could be performed with similar precision with either OBT/79 or CRM 149R, or RP.The mean ISI values calculated with OBT/79 and CRM 149R were practically identical, indicating that there is no bias in the ISI of these reference preparations and that these reference preparations have been stable since their original calibration studies in 1979 and 1987, respectively.International Normalized Ratio (INR) equivalents were calculated for a lyophilized control plasma derived from patients treated with oral anticoagulants. There were small but significant differences in the mean INR equivalents between the bovine and rabbit thromboplastins. There were no differences in the interlaboratory variation of the INR equivalents, when the four thromboplastins were compared.

Effects of Intermittent Pneumatic Calf Compression On Postoperative Thrombin and Plasmin Activity

1986 ◽  
Vol 56 (02) ◽  
pp. 198-201 ◽  
Author(s):  
Jeffrey Weitz ◽  
Jost Michelsen ◽  
Kenneth Gold ◽  
John Owen ◽  
Duncan Carpenter
Keyword(s):  
Enzyme Activity ◽  
Fibrinopeptide A ◽  
Plasmin Activity ◽  
Neurosurgical Patients ◽  
The Mean ◽  
Calf Compression

SummaryA previous study of neurosurgical patients demonstrated an imbalance between thrombin and plasmin action following surgery. The present study was designed to determine the effect of intermittent pneumatic calf compression on postoperative enzyme activity. Fibrinopeptide A (FPA) and Bβ 1-42 levels, reflecting thrombin and plasmin action respectively, were measured daily in patients undergoing elective craniotomy. Two of 9 patients not receiving calf compression developed positive fibrinogen leg scans, while none of 5 patients receiving prophylaxis had positive scans. Calf compression was associated with a markedly altered pattern of changes in the fibrinopeptide values following surgery. Without compression, there was perturbation of the balance between thrombin and plasmin action on the day after surgery as reflected by an increase in the FPA/Bβ 1-42 ratio. In contrast, in those receiving prophylaxis there was no change in this ratio on the first postoperative day. Calf compression both blunted the mean postoperative increase in the FPA level (1.8 nM vs 4.7 nM; p <.05) and augmented the mean Bβ 1-42 value (3.0 nM vs 0.2 nM; p <.05) so that the mean increase in the FPA/ Bβ 1-42 ratio was only 0.1 with calf compression as compared to 2.2 without it (p <.05). Systemic modulation of both the coagulation and fibrinolytic pathways thus occurred in association with calf compression.

Evidence of a gene-dosage effect for the glucocorticoid receptor in trisomy 18 mice

1987 ◽  
Vol 116 (3_Suppl) ◽  
pp. S95-S96
Author(s):  
D. VOGLIOLO ◽  
H. WINKING ◽  
R. KNUPPEN
Keyword(s):  
Glucocorticoid Receptor ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Trisomy 18 ◽  
Gene Dosage Effect

Der Sommer und Herbst 2003 aus phänologischer Sicht | Summer and autumn 2003 from a phenological point of view

2004 ◽  
Vol 155 (5) ◽  
pp. 142-145 ◽  
Author(s):  
Claudio Defila
Keyword(s):  
Time Series ◽  
New Record ◽  
Point Of View ◽  
Late Spring ◽  
Mean Deviation ◽  
Leaf Shedding ◽  
The Mean ◽  
Very High ◽  
Selection Of

The record-breaking heatwave of 2003 also had an impact on the vegetation in Switzerland. To examine its influences seven phenological late spring and summer phases were evaluated together with six phases in the autumn from a selection of stations. 30% of the 122 chosen phenological time series in late spring and summer phases set a new record (earliest arrival). The proportion of very early arrivals is very high and the mean deviation from the norm is between 10 and 20 days. The situation was less extreme in autumn, where 20% of the 103 time series chosen set a new record. The majority of the phenological arrivals were found in the class «normal» but the class«very early» is still well represented. The mean precocity lies between five and twenty days. As far as the leaf shedding of the beech is concerned, there was even a slight delay of around six days. The evaluation serves to show that the heatwave of 2003 strongly influenced the phenological events of summer and spring.

Caracterização da Peneira Média em Clones de Coffea canephora

REVISTA FIMCA ◽  
2018 ◽  
Vol 5 (2) ◽  
pp. 28-31
Author(s):  
Darlan Darlan Sanches Barbosa Alves ◽  
Victor Mouzinho Spinelli ◽  
Marcos Santana Moraes ◽  
Carolina Augusto De Souza ◽  
Rodrigo da Silva Ribeiro ◽  
...  
Keyword(s):  
Genetic Improvement ◽  
Block Design ◽  
Coffea Canephora ◽  
Coffee Production ◽  
Randomized Block Design ◽  
Significant Difference ◽  
The Mean ◽  
Four Blocks ◽  
Selection Of

Introdução: O estado de Rondônia se destaca como tradicional produtor de café, sendo o segundo maior produtor brasileiro de C. canephora. No melhoramento genético de C. canephora, a seleção de plantas de elevada peneira média está associada à bebida de qualidade superior. Objetivos: O objetivo desse estudo foi avaliar a variabilidade genética de clones de C. canephora para o tamanho dos grãos, mensurado a partir da avaliação da peneira média (PM). Materiais e Métodos: Para isso, foi conduzido ao longo de dois anos agrícolas experimento no campo experimental da Embrapa no município de Ouro Preto do Oeste-RO, para a avaliação da peneira média de 130 genótipos (clones) com características das variedades botânicas Conilon, Robusta e híbridos intervarietais. O delineamento experimental utilizado foi de blocos ao acaso, com quatro repetições de quatro plantas por parcela. Resultados: Não houve resultados significativos para a interação clones X anos, indicando uma maior consistência no comportamento das plantas ao longo do tempo. Porém foram observadas diferenças significativas para o tamanho dos grãos entre os genótipos avaliados, possibilitando selecionar genótipos superiores. Conclusão: Os genótipos agruparam-se em cinco classes de acordo com o teste de média, subsidiando a caracterização de um gradiente de variabilidade da característica avaliada ABSTRACTIntroduction: Coffea canephora accounts for approximately 35% of the world's coffee production. The state of Rondônia stands out as a traditional coffee producer, being the second largest Brazilian producer of C. canephora. In the classical genetic improvement of C. anephora, the selection of plants of high average sieve is associated with a drink of superior quality. Objectives: The objective of this udy was to evaluate the genetic variability of Coffea canephora clones for the agronomic medium sieve (PM). Materials and Methods: The experiment was conducted in the experimental field of Embrapa, municipality of OuroPreto do Oeste-RO, located at coordinates 10º44'53 "S and 62º12'57". One hundred thirty genotypes (clones) of botanical characteristics Conilon, Robusta and intervarietal hybrids were evaluated in the agricultural years 2013-2014 and 2014-2015. The experimental design was a randomized block design with four blocks and four plants per plot, spacing 3.5 x 1.5 meters between plants. Results: Significant difference was found for the grain size. According to the F test, at 5% probability, the genotypes were grouped into five classes according to the mean test. Conclusion: The results obtained subsidized the characterization of a variability gradient of the evaluated trait.

The relation between second-trimester placental elasticity and poor obstetric outcomes in low-risk pregnancies

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Murat Akbas ◽  
Faik Mumtaz Koyuncu ◽  
Burcu Artunç-Ülkümen ◽  
Gökce Akbas
Keyword(s):  
Birth Weight ◽  
Pregnant Women ◽  
Value Added ◽  
Shear Wave Elastography ◽  
Multiple Regression Model ◽  
Low Risk ◽  
Obstetric Outcomes ◽  
Second Trimester ◽  
The Mean ◽  
Random Measurements

AbstractObjectivesIncreased placental stiffness is associated with various pathological conditions. Our objective was to evaluate the relation between the second-trimester placental elasticity value in low-risk pregnant women and poor obstetric outcomes.MethodsA total of 143 pregnant women were enrolled. Placental elasticity values were measured using the transabdominal point shear wave elastography method. 10 random measurements were obtained from different areas of the placenta. The mean was accepted as the mean placental elasticity value. Logistic regression analyses were performed to identify independent variables associated with obstetric outcomes.ResultsSecond-trimester placental elasticity value was significantly and positively associated with the poor obstetric outcomes (p=0.038). We could predict a poor outcome with 69.2% sensitivity and 60.7% specificity if we defined the placental elasticity cut-off as 3.19 kPa. Furthermore, in the multiple regression model, the placental elasticity value added significantly to the prediction of birth weight (p=0.043).ConclusionsOur results showed that the pregnancies with a stiffer placenta in the second trimester were associated with an increased likelihood of exhibiting poor obstetric outcomes. Also, placental elasticity was independently associated with birth weight.

scholarly journals Repeated Pelvic Radiographs in Infants, After Harness Treatment for Developmental Dysplasia of the Hip, Carry Very Low Radiation Risk

2021 ◽  
Author(s):  
Elizabeth Vogel ◽  
Thomas Leaver ◽  
Fiona Wall ◽  
Ben Johnson ◽  
Michael Uglow ◽  
...  
Keyword(s):  
Radiation Exposure ◽  
Radiation Risk ◽  
Low Risk ◽  
Lifetime Risk ◽  
Body Region ◽  
Pavlik Harness ◽  
Pelvic Radiographs ◽  
Risk Of Malignancy ◽  
The Mean

Abstract Objective There are no data on the effect of X-Ray irradiation to the vulnerable pelvic organs of babies during DDH follow-up. This study aims to calculate, for the first time, the radiation exposure to infants during follow-up for DDH harness treatment, and thus quantify the lifetime risk of malignancy. Methods Patients who had completed 5 years’ follow-up following successful Pavlik harness treatment were identified from the hospital DDH database. The radiation dose was extracted from the Computerised Radiology Information System database for every radiograph of every patient. The effective dose (ED) was calculated using conversion coefficients for age, sex and body region irradiated. Cumulative ED was compared to Health Protection Agency standards to calculate lifetime risk of malignancy from the radiographs. Results All radiographs of 40 infants, successfully treated in Pavlik harness for DDH, were assessed. The mean number of AP pelvis radiographs was 7.00 (range: 6–9, mode: 7). The mean cumulative ED was 0.25 mSv (Range: 0.11–0.46, SD: 0.07). This is far lower than the annual ‘safe’ limit for healthcare workers of 20 mSv and is categorised as “Very Low Risk”. Conclusion Clinicians involved in the treatment DDH can be re-assured that the cumulative radiation exposure from pelvic radiographs following Pavlik harness treatment is “Very Low Risk”. Whilst being mindful of any radiation exposure in children, this study provides a scientific answer that help addresses parental concerns.

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