Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease)

1985 ◽  
Vol 8 (1) ◽  
pp. 8-8 ◽  
Author(s):  
B. Cartigny ◽  
J. Libert ◽  
A. H. Fensom ◽  
J. J. Martin ◽  
J. L. Dhondt ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Ceramidase Deficiency ◽  
Farber's Disease

scholarly journals Farber's disease (lysosomal acid ceramidase deficiency).

1987 ◽  
Vol 46 (7) ◽  
pp. 559-561 ◽  
Author(s):  
R A Jameson ◽  
P J Holt ◽  
J H Keen
Keyword(s):  
Acid Ceramidase ◽  
Lysosomal Acid ◽  
Ceramidase Deficiency ◽  
Farber's Disease

Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis)

Science ◽  
1972 ◽  
Vol 178 (4065) ◽  
pp. 1100-1102 ◽  
Author(s):  
M. Sugita ◽  
J. T. Dulaney ◽  
H. W. Moser
Keyword(s):  
Ceramidase Deficiency ◽  
Farber's Disease

Study on erythrocytes by SEM photogrammetry (SEMP) technique

1990 ◽  
Vol 48 (3) ◽  
pp. 724-725
Author(s):  
Tong Wensheng ◽  
Lu Lianhuang ◽  
Zhang Zhijun
Keyword(s):  
Quantitative Analysis ◽  
Cell Membrane ◽  
Clinical Diagnosis ◽  
Human Body ◽  
Blood Cells ◽  
Three Dimensional ◽  
Normal Person ◽  
Blood Disease ◽  
Computation Technique ◽  
Important Basis

This is a combined study of two diffirent branches, photogrammetry and morphology of blood cells. The three dimensional quantitative analysis of erythrocytes using SEMP technique, electron computation technique and photogrammetry theory has made it possible to push the study of mophology of blood cells from LM, TEM, SEM to a higher stage, that of SEM P. A new path has been broken for deeply study of morphology of blood cells.In medical view, the abnormality of the quality and quantity of erythrocytes is one of the important changes of blood disease. It shows the abnormal blood—making function of the human body. Therefore, the study of the change of shape on erythrocytes is the indispensable and important basis of reference in the clinical diagnosis and research of blood disease.The erythrocytes of one normal person, three PNH Patients and one AA patient were used in this experiment. This research determines the following items: Height;Length of two axes (long and short), ratio; Crevice in depth and width of cell membrane; Circumference of erythrocytes; Isoline map of erythrocytes; Section map of erythrocytes.

Histological verification of non-specific aorta-arteritis (Takayasu's arteritis) using percutaneous transluminal atherectomy

VASA ◽  
2004 ◽  
Vol 33 (4) ◽  
pp. 247-251 ◽  
Author(s):  
Zeller ◽  
Koch ◽  
Frank ◽  
Bürgelin ◽  
Schwarzwälder ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Axillary Artery ◽  
Takayasu’S Arteritis ◽  
Giant Cells ◽  
Interventional Therapy ◽  
Takayasu's Arteritis ◽  
New Device ◽  
First Case ◽  
Anti Inflammatory ◽  
Percutaneous Transluminal

Diagnosis of non-specific aorto-arteritis (NSAA, Takaysu's arteritis) is typically based on clinical and investigational parameters. We report here about two patients with clinically suspected diagnosis of a Takayasu's arteritis already under anti-inflammatory therapy in whom percutaneous transluminal atherectomy of subclavian and axillary artery stenoses was performed to relief the patients from symptoms – intermittent dyspraxia of the arms – and to verify the clinical diagnosis by histology. In the first case aorto-arteritis could be histologically confirmed through the analysis of plaque material including media structures excised from the subclavian and axillary arteries using a new device for atherectomy. The biopsy showed diffuse inflammation and granulomatous lesions with giant cells typically for Takayasu's disease. In the second patient, biopsy showed no acute or chronic inflammatory signs but only atherosclerotic lesions. Percutaneous transluminal atherectomy is therefore not only an interventional but also a diagnostic tool and should be used in every case of interventional therapy of suspected aorto-arteritis to make the clinical diagnosis and as a major consequence the initiation of an aggressive anti-inflammatory medical therapy more reliable.

Sonography of subcutaneous tissue cannot determine causes of lower limb edema

VASA ◽  
2015 ◽  
Vol 44 (2) ◽  
pp. 122-128 ◽  
Author(s):  
Mandy Becker ◽  
Tom Schilling ◽  
Olga von Beckerath ◽  
Knut Kröger
Keyword(s):  
Clinical Diagnosis ◽  
Lower Limb ◽  
Subcutaneous Tissue ◽  
Hepatic Disease ◽  
Clinical Use ◽  
Single Image ◽  
Heart Insufficiency ◽  
Chronic Hepatic Disease ◽  
Limb Edema ◽  
Venous Disorders

Background: To clarify the clinical use of sonography for differentiation of edema we tried to answer the question whether a group of doctors can differentiate lymphedema from cardiac, hepatic or venous edema just by analysing sonographic images of the edema. Patients and methods: 38 (70 ± 12 years, 22 (58 %) females) patients with lower limb edema were recruited according the clinical diagnosis: 10 (26 %) lymphedema, 16 (42 %) heart insufficiency, 6 (16 %) venous disorders, 6 (16 %) chronic hepatic disease. Edema was depicted sonographically at the most affected leg in a standardised way at distal and proximal calf. 38 sets of images were anonymised and send to 5 experienced doctors. They were asked whether they can see criteria for lymphedema: 1. anechoic gaps, 2. horizontal gaps and 3. echoic rims. Results: Accepting an edema as lymphedema if only one doctor sees at least one of the three criteria for lymphatic edema on each single image all edema would be classified as lymphatic. Accepting lymphedema only if all doctors see at least one of the three criteria on the distal image of the same patient 80 % of the patients supposed to have lymphedema are classified as such, but also the majority of cardiac, venous and hepatic edema. Accepting lymphedema only if all doctors see all three criteria on the distal image of the same patients no edema would be classified as lymphatic. In addition we separated patients by Stemmers’ sign in those with positive and negative sign. The interpretation of the images was not different between both groups. Conclusions: Our analysis shows that it is not possible to differentiate lymphedema from other lower limb edema sonographically.

Picture Recognition Errors in the Differential Diagnosis of Alzheimer’s Disease

2019 ◽  
Vol 30 (3) ◽  
pp. 157-168
Author(s):  
Helmut Hildebrandt ◽  
Jana Schill ◽  
Jana Bördgen ◽  
Andreas Kastrup ◽  
Paul Eling
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Differential Diagnosis ◽  
Clinical Diagnosis ◽  
Response Bias ◽  
Recognition Task ◽  
Discriminatory Power ◽  
False Alarms ◽  
Picture Recognition ◽  
Recognition Errors

Abstract. This article explores the possibility of differentiating between patients suffering from Alzheimer’s disease (AD) and patients with other kinds of dementia by focusing on false alarms (FAs) on a picture recognition task (PRT). In Study 1, we compared AD and non-AD patients on the PRT and found that FAs discriminate well between these groups. Study 2 served to improve the discriminatory power of the FA score on the picture recognition task by adding associated pairs. Here, too, the FA score differentiated well between AD and non-AD patients, though the discriminatory power did not improve. The findings suggest that AD patients show a liberal response bias. Taken together, these studies suggest that FAs in picture recognition are of major importance for the clinical diagnosis of AD.

Challenges of Fear Conditioning Research in the Age of RDoC

2017 ◽  
Vol 225 (3) ◽  
pp. 189-199 ◽  
Author(s):  
Tina B. Lonsdorf ◽  
Jan Richter
Keyword(s):  
Fear Conditioning ◽  
Clinical Diagnosis ◽  
Research Domain Criteria ◽  
Major Focus ◽  
The Future ◽  
Definition Of ◽  
Methodological Considerations ◽  
Research Domain

Abstract. As the criticism of the definition of the phenotype (i.e., clinical diagnosis) represents the major focus of the Research Domain Criteria (RDoC) initiative, it is somewhat surprising that discussions have not yet focused more on specific conceptual and procedural considerations of the suggested RDoC constructs, sub-constructs, and associated paradigms. We argue that we need more precise thinking as well as a conceptual and methodological discussion of RDoC domains and constructs, their interrelationships as well as their experimental operationalization and nomenclature. The present work is intended to start such a debate using fear conditioning as an example. Thereby, we aim to provide thought-provoking impulses on the role of fear conditioning in the age of RDoC as well as conceptual and methodological considerations and suggestions to guide RDoC-based fear conditioning research in the future.

Diagnosing Clinical Diagnosis

1979 ◽  
Vol 24 (1) ◽  
pp. 48-49 ◽  
Author(s):  
BARUCH FISCHHOFF
Keyword(s):  
Clinical Diagnosis

Clinical diagnosis of pediatric obstructive sleep apnea validated by polysomnography

1994 ◽  
Vol 111 (5) ◽  
pp. 611-617 ◽  
Author(s):  
N GOLDSTEIN ◽  
N SCULERATI ◽  
J WALSLEBEN ◽  
N BHATIA ◽  
D FRIEDMAN ◽  
...  
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Clinical Diagnosis ◽  
Obstructive Sleep
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