scholarly journals SAT-578 A Rare Case of Laboratory Hypertriglyceridemia: Glycerol Kinase Deficiency

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Masako Ueda ◽  
Anna Wolska ◽  
Maureen Sampson ◽  
Frances M Burke ◽  
Daniel J Rader ◽  
...  
Keyword(s):  
Incidental Finding ◽  
Glycerol Kinase ◽  
University Of Pennsylvania ◽  
Cardiovascular Risks ◽  
Juvenile Form ◽  
Glycerol Kinase Deficiency ◽  
History Of ◽  
The Difference ◽  
Potential Methods ◽  
Record Review

Abstract Background: Hypertriglyceridemia (HTG) is common; however, pseudo-HTG due to high glycerol in glycerol kinase deficiency (GKD, MIM: 307030) is a rare cause of HTG that need to be delineated for appropriate management. GKD is an X-linked recessive disorder characterized by hyperglycerolemia and glyceroluria. Two of three GKD subtypes are known as “isolate” GKD due to a mutation in GK gene alone: (1) symptomatic juvenile form, and (2) benign adult form, associated with an incidental finding of HTG. Since most commercial laboratories determine triglyceride (TG) levels by a glycerol measurement, TG-backbone, patients with GKD are mistakenly labelled as having HTG. Glycerol-blanking is required to reveal the actual TG, but it is costly. Since usual TG-lowering medications are ineffective or even harmful, novel methods to screen for individuals with GKD or pseudo-HTG are necessary. Objective: Through identification of a clinical case of GKD that was diagnosed by glycerol-blanking, we are proposing two potential methods to screen for pseudo-HTG, and presenting their reliability. Methods: The patient was recruited into an IRB-approved study investigating etiologies of dyslipidemia at the University of Pennsylvania. Patient provided consent for medical record review. Results: A 49-year-old man was referred for HTG management. His reported TG levels ranged between 490 and 559 mg/dL without any other adverse lipid levels for several years without a history of pancreatitis or diabetes mellitus. Intriguingly, he reported a family history of HTG. Since TG-lowering medications (fibrates and fish oil) had not reduced his TG levels, specialized lipid analyses were obtained: a non-blanked TG level of 521 mg/dL and a glycerol-blanked TG of 66 mg/dL, consistent with pseudo-HTG or hyperglycerolemia. Repeat glycerol blanked TG levels were 68 and 69 mg/dL, confirming the previous result, and the likely diagnosis of GKD. With two methods, estimated TG levels were calculated, using some of his laboratory values: (1) modified Friedewald equation to solve for TG with a direct LDL (dLDL) value, and (2) the application of a newly developed formula derived from a collection of 17,545 patient samples, to calculate the absolute TG-gap, using apolipoprotein A and B, estimating TG levels (% deltaTG), and determining whether a TG mesurement might be falsely deviated from the “plausible” TG value. Although neither methods showed perfect concordance, the calculated TG-valued derived by the two methods were significantly lower than the non-glycerol blanked TG values. The difference was statistically significant (p<0.05). Conclusion: The patient was clinically diagnosed with GKD, and was taken off of fibrate and the recently added niacin. These two methods can be used quickly to screen for pseudo-HTG or patients with GKD. Currently, it is unknown whether high glycerol levels are associated with high cardiovascular risks.

scholarly journals Assessment of the difference in detection of pleasant and unpleasant odors in different grades of hyposmia

2021 ◽  
Vol 37 (1) ◽  
Author(s):  
Tamer M. Attia ◽  
Ahmad M. Hamdan
Keyword(s):  
Pilot Study ◽  
Sense Organ ◽  
Normal Subjects ◽  
Cross Sectional Study ◽  
University Of Pennsylvania ◽  
Cross Sectional ◽  
Significant Difference ◽  
Olfactory Sense ◽  
History Of ◽  
The Difference

Abstract Background Olfaction is a complex process involving different neurological mechanisms with a correlation between the chemical structure and quality of odors regarding pleasantness. This study aimed to compare the detection of pleasant and unpleasant odors in different grades of hyposmia. A descriptive cross-sectional study was conducted preceded by a preliminary pilot study, including 20 normal subjects without a history of hyposmia. The pilot study was carried out using the University of Pennsylvania Smell Identification Test (UPSIT) with the assessment of pleasantness of odors using a visual analog scale (VAS). Fifty patients diagnosed with organic hyposmia/anosmia were included in the main study and assessed for the degree of hyposmia/anosmia using UPSIT. The number of detected odors out of the five odors with highest VAS for pleasantness and five odors with lowest VAS for pleasantness, as detected by the pilot study, for every patient was assessed and compared. Results There was a significant difference between the detection of pleasant and unpleasant odors in mild, moderate, and severe hyposmia (p value = 0.02, 0.005, and 0.03 respectively) with a highly significant difference in the whole study group ( p < 0.00001) with more loss of ability to detect unpleasant odors compared with pleasant odors. Conclusion The current study showed significantly less ability to detect unpleasant odors compared with pleasant odors in different grades of hyposmia. This finding suggests that the pattern of degeneration of the olfactory sense organ is not uniform with the topographic nature of the olfactory membrane.

A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor

1984 ◽  
Vol 104 (5) ◽  
pp. 736-739 ◽  
Author(s):  
Edward I. Ginns ◽  
John A. Barranger ◽  
Sharon W. McClean ◽  
Clara Sliva ◽  
Richard Young ◽  
...  
Keyword(s):  
Glycerol Kinase ◽  
Juvenile Form ◽  
Glycerol Kinase Deficiency

Harsdörffers Geschirr

2019 ◽  
Vol 10 (1) ◽  
pp. 23-37
Author(s):  
Natalie Binczek
Keyword(s):  
Design History ◽  
History Of ◽  
The Difference

Der deutsche Barockdichter Georg Philipp Harsdörffer skizziert eine Theorie der Emblematik, die vor allem dessen Anwendungsvielfalt hervorhebt. Er hebt dabei besonders den Unterschied zwischen buchinterner und buchexterner Verwendung auf, indem er sich nicht nur für die Aufnahme der Embleme in Büchern, sondern auch auf Geschirr und Tapeten ausspricht. Der Beitrag liest Harsdörffers extensive Überlegungen nicht nur als Beiträge zur Theorie und Geschichte der Embleme als ›Sinn-Bilder‹, sondern auch als Beitrag zur Designgeschichte. German Baroque poet Georg Philipp Harsdörffer delineates a theory of emblematics that clearly sets itself apart from other contemporary theories, especially by its versatility. In particular, the author negates the difference between internal and external usage of emblems in books not only by promoting the incorporation of emblems into printed works but also by supporting their depiction on dishes and tapestries. This article strives to read Harsdörffer’s extensive thoughts on the matter of emblems not simply as another work on the theory and history of emblematics but rather as a contribution to design history as well

Introduction

2017 ◽  
Author(s):  
Simon Kirchin
Keyword(s):  
Hilary Putnam ◽  
Bernard Williams ◽  
General Methodology ◽  
Thick Concepts ◽  
History Of ◽  
Philippa Foot ◽  
The Difference

This chapter introduces the distinction between thin and thick concepts and then performs a number of functions. First, two major accounts of thick concepts—separationism and nonseparationism—are introduced and, in doing so, a novel account of evaluation is indicated. Second, each chapter is outlined as is the general methodology, followed, third, by a brief history of the discussion of thick concepts, referencing Philippa Foot, Hilary Putnam, Gilbert Ryle, and Bernard Williams among others. Fourth, a number of relevant contrasts are introduced, such as the fact–value distinction and the difference between concepts, properties, and terms. Lastly, some interesting and relevant questions are raised that, unfortunately, have to be left aside.

The Early History of Financial Economics, 1478–1776. By Geoffrey Poitras. Cheltenham and Northampton: Edward Elgar, 2000. Pp. x, 522.

2002 ◽  
Vol 62 (1) ◽  
pp. 268-269
Author(s):  
Larry Neal
Keyword(s):  
Economic History ◽  
Financial Analysis ◽  
Adam Smith ◽  
Economic Thought ◽  
Financial History ◽  
X 522 ◽  
History Of ◽  
The Difference ◽  
Wealth Of Nations ◽  
Simon Fraser University

Economic historians usually have to explain to their economist colleagues the difference between economic history, which focuses on facts, and history of economic thought, which focuses on ideas. Our colleagues in finance departments, typically fascinated by episodes in financial history treated by economic historians, are bound to be disappointed in the lack of attention given to the development of ideas in finance by historians of economic thought. Geoffrey Poitras, a professor of finance at Simon Fraser University, makes a valiant effort to remedy these oversights in his collection of vignettes that highlight the sophistication of financial instruments and analysts of financial markets well before the time of Adam Smith. Starting in 1478 with the publication of the Treviso Arithmetic, a typical textbook of commercial arithmetic for Italian merchants, and ending with brief snippets from the Wealth of Nations, Poitras treats the reader to a fascinating potpourri of excerpts from various manuals, brief biographies of pioneers in financial analysis, and historical discursions on foreign-exchange and stock markets.

scholarly journals Reproducibility and Instruction Following in the Shop Floor Laboratory Work: The Case of a TMS Experiment

2021 ◽  
pp. 016224392110323
Author(s):  
Kristina Popova
Keyword(s):  
Measurement Procedure ◽  
Shop Floor ◽  
Experimental Uncertainty ◽  
Local Measurement ◽  
Replication Crisis ◽  
History Of ◽  
Per Se ◽  
The Difference ◽  
Methodological Guidelines ◽  
Local Procedure

The article addresses the production of reproducibility as a topic that has become acutely relevant in the recent discussions on the replication crisis in science. It brings the ethnomethodological stance on reproducibility into the discussions, claiming that reproducibility is necessarily produced locally, on the shop floor, with methodological guidelines serving as references to already established practices rather than their origins. The article refers to this argument empirically, analyzing how a group of novice neuroscientists performs a series of measurements in a transcranial magnetic stimulation experiment. Based on ethnography and video analysis, the article traces a history of the local measurement procedure invented by the researchers in order to overcome the experimental uncertainty. The article aims to demonstrate (1) how reproducibility of the local procedure is achieved in the shop floor work of the practitioners and (2) how the procedure becomes normalized and questioned as incorrect in the course of experimental practice. It concludes that the difference between guidelines and practical actions is not problematic per se; what may be problematic is that researchers can be engaged in different working projects described by the same instruction.

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