scholarly journals Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

2020 ◽  
Vol 182 (7) ◽  
pp. 1796-1800
Author(s):  
Daniel R. Carvalho ◽  
Carlos E. Speck‐Martins ◽  
Jaime M. Brum ◽  
Carlos R. Ferreira ◽  
Nara L. M. Sobreira
Keyword(s):  
Lysosomal Enzymes ◽  
Elevated Plasma ◽  
Homozygous Variant ◽  
Spondyloepimetaphyseal Dysplasia

scholarly journals The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

2018 ◽  
Vol 40 (3) ◽  
pp. 299-309 ◽  
Author(s):  
Katta M. Girisha ◽  
Leonie von Elsner ◽  
Kausthubham Neethukrishna ◽  
Mamta Muranjan ◽  
Anju Shukla ◽  
...  
Keyword(s):  
Mitochondrial Function ◽  
Homozygous Variant ◽  
Spondyloepimetaphyseal Dysplasia

Elevated Plasma Fibronectin During Venous Occlusion

1985 ◽  
Vol 53 (01) ◽  
pp. 157-157 ◽  
Author(s):  
Czeslaw S Ciemiewski ◽  
Malgorzata Wilczynska ◽  
Wieslaw Augustyniak ◽  
Maria A Kowalska
Keyword(s):  
Venous Occlusion ◽  
Plasma Fibronectin ◽  
Elevated Plasma

High Levels of Plasma Protein C in Nephrotic Syndrome

1985 ◽  
Vol 53 (01) ◽  
pp. 005-007 ◽  
Author(s):  
I Pabinger-Fasching ◽  
K Lechner ◽  
H Niessner ◽  
P Schmidt ◽  
E Balzar ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Plasma Protein ◽  
Protein C ◽  
Inverse Correlation ◽  
Elevated Plasma ◽  
Significant Inverse Correlation ◽  
At Iii ◽  
Thrombotic Tendency ◽  
Protein C Activity

SummaryIn patients with severe nephrotic syndrome determinations of plasma protein C : Ag levels (8 patients: 5 adults, 3 children) and protein C activity (3 out of 8 patients) revealed significantly elevated plasma protein C concentrations. Furthermore we observed a significant inverse correlation of protein C : Ag to AT III : Ag levels. No protein C : Ag could be detected in the urine of two patients studied. We conclude from our data, that changes of plasma protein C do not contribute to the high thrombotic tendency in nephrotic syndrome.

Detection of Enhanced In Vivo Platelet α-Granule Release in Different Patient Groups - Comparison of β-Thromboglobulin, Platelet Factor 4 and Thrombospondin Assays

1984 ◽  
Vol 52 (02) ◽  
pp. 183-187 ◽  
Author(s):  
D A Lane ◽  
H Ireland ◽  
S Wolff ◽  
E Ranasinghe ◽  
J Dawes
Keyword(s):  
Platelet Factor 4 ◽  
Renal Elimination ◽  
Elevated Plasma ◽  
Platelet Factor ◽  
Release Reaction ◽  
Heparin Anticoagulation ◽  
Patient Groups ◽  
Granule Release ◽  
Sensitive Marker

SummaryDuring the platelet release reaction β-thromboglobulin (βTG), platelet factor 4 (PF4) and thrombospondin (TSP) are released from the platelet into plasma and assays of these proteins can be used to monitor in vivo platelet activation. We have assessed their relative merits as markers of the in vivo platelet α-granule release reaction in a number of patient groups which have previously been shown to have elevated plasma βTG and/or PF4 levels. It is concluded that in diseases or conditions not complicated by its reduced clearance, βTG is the most sensitive marker of in vivo platelet α-granule release. However, the TSP assay may be the least ambiguous when monitoring the platelet α-granule release reaction in patients with renal failure who are undergoing haemodialysis with heparin anticoagulation. Under these circumstances plasma βTG, but not PF4 or TSP, levels are elevated because of impaired renal catabolism, and the presence of a heparin-releasable reservoir of PF4 on the endothelium complicates the use of the PF4 assay. In liver failure none of these assays may accurately reflect platelet α-granule release because of impaired hepatic or renal elimination of the proteins.

Central KATP channels modulate glucose effectiveness in humans and rodents

2020 ◽  
Author(s):  
Ada Admin ◽  
Michelle Carey ◽  
Eric Lontchi-Yimagou ◽  
William Mitchell ◽  
Sarah Reda ◽  
...  
Keyword(s):  
Katp Channel ◽  
Glucose Production ◽  
Katp Channels ◽  
Endogenous Glucose Production ◽  
Elevated Plasma ◽  
Sprague Dawley ◽  
Glucose Effectiveness ◽  
Sprague Dawley Rats ◽  
The Central Nervous System

Hyperglycemia is a potent regulator of endogenous glucose production (EGP). Loss of this ‘glucose effectiveness’ is a major contributor to elevated plasma glucose concentrations in type 2 diabetes (T2D). ATP-sensitive potassium channels (K<sub>ATP</sub> channels) in the central nervous system (CNS) have been shown to regulate EGP in humans and rodents. We examined the contribution of central K<sub>ATP</sub> channels to glucose effectiveness. Under fixed hormonal conditions (‘pancreatic clamp’ studies), hyperglycemia suppressed EGP by ~50% in both non-diabetic humans and normal Sprague Dawley rats. By contrast, antagonism of K<sub>ATP</sub> channels with glyburide significantly reduced the EGP-lowering effect of hyperglycemia in both humans and rats. Furthermore, the effects of glyburide on EGP and gluconeogenic enzymes in rats were abolished by intracerebroventricular (ICV) administration of the KATP channel agonist diazoxide. These findings indicate that about half of EGP suppression by hyperglycemia is mediated by central K<sub>ATP</sub> channels. These central mechanisms may offer a novel therapeutic target for improving glycemic control in T2D.

Elevated plasma concentrations of beta-cell tropin (ACTH22-39) in diet-treated type II diabetic patients

Diabetes ◽  
1992 ◽  
Vol 41 (9) ◽  
pp. 1160-1164 ◽  
Author(s):  
J. C. Levy ◽  
J. L. Morton ◽  
M. Davenport ◽  
A. Beloff-Chain ◽  
R. C. Turner
Keyword(s):  
Beta Cell ◽  
Plasma Concentrations ◽  
Diabetic Patients ◽  
Type Ii ◽  
Elevated Plasma
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