scholarly journals Serum Enzyme Profiles Differentiate Five Types of Muscular Dystrophy

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Yuling Zhu ◽  
Huili Zhang ◽  
Yiming Sun ◽  
Yaqin Li ◽  
Langhui Deng ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Genetic Testing ◽  
Muscular Dystrophy ◽  
Serum Levels ◽  
Serum Enzymes ◽  
Discriminant Functions ◽  
Serum Enzyme

Background.Differentiation among types of muscular dystrophy (MD) has remained challenging. In this retrospective study, we sought to develop a methodology for differentiation of MD types using analysis of serum enzyme profiles.Methods.The serum levels of enzymes from 232 patients, including 120 with DMD, 36 with BMD, 36 with FSHD, 46 with LGMD, and 11 with EDMD, were evaluated.Results.The characteristic profiles of serum enzymes facilitated differentiation of these five types of MD. DMD was characterized by simultaneous elevation of ALT, AST, LDH, and ALP; BMD and LGMD were characterized by elevation of ALT, AST, and LDH; and FSHD and EDMD were characterized by a lack of abnormal serum enzyme levels. We further developed discriminant functions to distinguish BMD and LGMD. For LGMD, LGMD2B patients had significantly higher ALP levels than non-LGMD2B patients (98±59 U/L versus45±9 U/L, resp.,p<0.05).Conclusions.Our approach enabled the determination of MD subtypes using serum enzyme profiles prior to genetic testing, which will increase the chance a mutation will be found in the first gene analyzed.

LIMB-GIRDLE MUSCULAR DYSTROPHY: CLINICAL MANIFESTATIONS AND DETECTION OF PRECLINICAL DISEASE

PEDIATRICS ◽  
1968 ◽  
Vol 41 (2) ◽  
pp. 495-502
Author(s):  
Charles E. Jackson ◽  
Don A. Strehler
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Serum Enzymes ◽  
Limb Girdle Muscular Dystrophy ◽  
Recessive Type ◽  
The Face ◽  
Mode Of Inheritance

The clinical picture of limb-girdle muscular dystrophy is described as seen in 37 affected individuals from two large Amish kindreds. The disease is characterized by an autosomal recessive mode of inheritance with as many females as males being affected, and with affected individuals being the product generally of consanguineous matings. The age of onset was observed to be between 4 and 15 years of age (average 8½) with a quite variable age of confinement to a wheelchair (12 to 44 years ). The disease was compatible with a life span in one patient to 67 years of age. The involvement of proximal shoulder and pelvic girdle muscles was similar to that in the X-linked recessive, Duchenne type of muscular dystrophy; however, the zygomaticus muscles of the face are preserved and a normal upturned smile is noted in this type of muscular dystrophy rather than the flat transverse smile noted in the X-linked recessive type. Muscle biopsy abnormalities in two individuals very early in the course of their disease suggest that biopsy would probably be useful in detection of preclinical disease in this type of muscular dystrophy. Gross abnomalities of serum enzymes in 12 younger siblings of affected individuals in these two families suggest that these enzyme determinations are useful in detecting preclinical, limb-girdle muscular dystrophy. When therapy for muscular dystrophy becomes available, the determination of preclinical disease by these techniques will become of greater clinical significance.

scholarly journals Serum enzyme changes, muscular dystrophy and erythrocyte abnormalities in lambs fed on diets containing cod-liver oil and maize oil, and the therapeutic effect of vitamin E

1968 ◽  
Vol 22 (3) ◽  
pp. 411-422 ◽  
Author(s):  
J. W. Boyd
Keyword(s):  
Vitamin E ◽  
Muscular Dystrophy ◽  
Packed Cell Volume ◽  
Skim Milk ◽  
Serum Enzymes ◽  
Tocopheryl Acetate ◽  
Aspartate Transaminase ◽  
Cod Liver Oil ◽  
Serum Enzyme ◽  
Maize Oil

1. Lambs fed on skim milk containing either maize oil or cod-liver oil or both were observed for signs of muscular dystrophy, changes in serum enzymes and increases in the susceptibility of red cells to haemolysis by peroxide (peroxide haemolysis).2. Four lambs fed on the milk containing cod-liver oil, and not receiving α-tocopheryl acetate injections, developed acute muscular dystrophy, but no abnormal changes occurred in peroxide haemolysis, packed cell volume or haemoglobin concentration in the blood. Marked increases occurred in the aspartate transaminase, alanine transaminase and glutamate dehydrogenase, and in lactate dehydrogenase isoenzyme activities of the serum, presumably due to leakage from the degenerating tissues. One lamb given weekly injections of 100 mg α-tocopheryl acetate remained clinically normal and maintained normal serum enzyme levels. Treatment of dystrophic animals with 200 mg α-tocopheryl acetate by injection produced prompt clinical recovery and an exponential decline in the raised serum enzyme activities.3. In the five lambs fed on the skim-milk containing maize oil, muscular dystrophy did not occur. Small but significant increases occurred, however, in serum aspartate transaminase and glutamate dehydrogenase activities. In all five animals peroxide haemolysis was greatly increased, but in only two did packed cell volume and haemoglobin values fall slightly below the lower limit of normal (mean − 2 × SD). Injections of 100–200 mg α-tocopheryl acetate neither prevented nor cured the abnormally high levels of serum enzymes and peroxide haemolysis, although a change in the diet was followed by a gradual return to normal. In one lamb given massive doses of α-tocopherol by mouth, peroxide haemolysis was not reduced. Large amounts of α-tocopherol added in vitro to erythrocytes from the lamb did, however, prevent peroxide haemolysis.4. Peroxide haemolysis did not increase in any of three lambs fed on skim milk containing both maize oil and cod-liver oil, although two of them, which were given much larger amounts of cod-liver oil than the third, developed muscular dystrophy with elevated serum enzyme levels.5. Peroxide haemolysis in lambs is evidently not a measure of vitamin E deficiency. It is suggested that increased peroxide haemolysis in lambs, like encephalomalacia in chicks, depends on the fatty acid composition of the unsaturated lipids in the diet.

Human Prothrombin Activation: Determination of Plasma and Serum Levels of Prothrombin Fragment 3 by Radioimmunoassay

1979 ◽  
Author(s):  
Daniel Walz ◽  
Thomas Brown
Keyword(s):  
Blood Clotting ◽  
Factor Xa ◽  
Heart Association ◽  
Serum Levels ◽  
Cross Reactivity ◽  
Assay Procedure ◽  
A Chain ◽  
Prothrombin Activation ◽  
Theoretical Amount

Human prothrombin activation is unique in that, in addition to the release of fragment 1.2 (FI.2) from the NH-terminus of prothrombin by factor Xa during the generation of thrombin, an additional 13 residue polypeptide, fragment 3 (F3), is autocatalytically removed from the amino-terminus of the thrombin A chain. We have developed a rapid radioimmunoassay for human F3 which incorporates short incubation times and the use of a preprecipitated second antibody; the assay can be performed in three hours. Specificity studies in buffer systems show prothrombin and prethrombin 1 cross-reacting at a level of 0.001; purified thrombin does not cross-react. In the presence of 5% BSA, prothrombin displays considerably less cross-reactivity. No immunoreactive material to F3 antibodies could be detected in 400 μL of plasma. Serum, obtained from whole blood clotting, contained measurable quantities of F3 (40-100 ng/mL). This amount in serum represents only 5-10% of the theoretical amount available should all of the fragment be hydrolytically cleaved during the conversion of prothrombin to thrombin. This assay procedure is currently being utilized to monitor the activation of purified human prothrombin in the absence and presence of selected plasma inhibitors. (Supported in part by NIH 05384-17 and the Michigan Heart Association).

scholarly journals Circulating bioactive sclerostin levels in an Austrian population-based cohort

2021 ◽  
Author(s):  
Katharina Kerschan-Schindl ◽  
Ursula Föger-Samwald ◽  
Andreas Gleiss ◽  
Stefan Kudlacek ◽  
Jacqueline Wallwitz ◽  
...  
Keyword(s):  
Serum Levels ◽  
Population Based ◽  
Negative Regulator ◽  
Total Serum ◽  
Mineral Density ◽  
Cross Sectional ◽  
Robust Parameter ◽  
Austrian Population ◽  
Different Levels

Summary Background Circulating serum sclerostin levels are supposed to give a good estimation of the levels of this negative regulator of bone mass within bone. Most studies evaluating total serum sclerostin found different levels in males compared to females and in older compared to younger subjects. Besides an ELISA detecting total sclerostin an ELISA determining bioactive sclerostin has been developed. The aim of this study was to investigate serum levels of bioactive sclerostin in an Austrian population-based cohort. Methods We conducted a cross-sectional observational study in 235 healthy subjects. Using the bioactive ELISA assay (Biomedica) bioactive sclerostin levels were evaluated. Results Serum levels of bioactive sclerostin were higher in men than in women (24%). The levels correlated positively with age (r = 0.47). A positive correlation could also be detected with body mass index and bone mineral density. Conclusion Using the ELISA detecting bioactive sclerostin our results are consistent with data in the literature obtained by different sclerostin assays. The determination of sclerostin concentrations in peripheral blood thus appears to be a robust parameter of bone metabolism.

scholarly journals Bone-Derived Serum Enzymes and Bone Density in Perimenopausal Caucasian Women

1993 ◽  
Vol 30 (2) ◽  
pp. 191-194 ◽  
Author(s):  
J D Johnston ◽  
S Koneru ◽  
T Kuwana ◽  
S B Rosalki
Keyword(s):  
Alkaline Phosphatase ◽  
Acid Phosphatase ◽  
Bone Density ◽  
Femoral Neck ◽  
Serum Levels ◽  
Bone Alkaline Phosphatase ◽  
Serum Enzymes ◽  
Tartrate Resistant Acid Phosphatase ◽  
Vertebral Bone ◽  
Caucasian Women

Serum levels of bone-origin alkaline phosphatase and of tartrate-resistant acid phosphatase were measured in Caucasian women aged 41–69 years who had volunteered for bone densitometry. Bone alkaline phosphatase and tartrate-resistant acid phosphatase were inversely correlated with vertebral bone density and with femoral neck bone density. Bone alkaline phosphatase and acid phosphatase were also significantly correlated, consistent with the concept of ‘coupling’ between osteoblast and osteoclast activity.

scholarly journals Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy

2016 ◽  
Vol 17 (8) ◽  
pp. 1334 ◽  
Author(s):  
Mónica Anaya-Segura ◽  
Héctor Rangel-Villalobos ◽  
Gabriela Martínez-Cortés ◽  
Benjamín Gómez-Díaz ◽  
Ramón Coral-Vázquez ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Serum Levels ◽  
Carrier Detection

Determination of teicoplanin trough concentration target and appropriate total dose during the first 3 days: a retrospective study in patients with MRSA infections

2010 ◽  
Vol 16 (3) ◽  
pp. 193-199 ◽  
Author(s):  
Kazuaki Matsumoto ◽  
Naoko Kanazawa ◽  
Tomohide Fukamizu ◽  
Akari Shigemi ◽  
Keiko Yaji ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Total Dose ◽  
Trough Concentration

Determination of a new computed tomography method for measuring the glenoid version and comparing with a reference method. Radio-anatomical and retrospective study

2015 ◽  
Vol 40 (3) ◽  
pp. 525-529 ◽  
Author(s):  
Julien Andrin ◽  
Charbel Macaron ◽  
Pierre Pottecher ◽  
Pierre Martz ◽  
Emmanuel Baulot ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Retrospective Study ◽  
Reference Method ◽  
Glenoid Version ◽  
Tomography Method
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