Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis

Talanta ◽  
2021 ◽  
pp. 122260
Author(s):  
Jan Klouda ◽  
Lenka Benešová ◽  
Pavel Kočovský ◽  
Karolina Schwarzová-Pecková
Keyword(s):  
Syndrome Diagnosis ◽  
Opitz Syndrome

NICOLAU SYNDROME DUE TO INTRAMUSCULAR DICLOFENAC SODIUM INJECTION

2020 ◽  
Vol 4 (2) ◽  
Author(s):  
Harris I Shaafie ◽  
Soumya Agarwal ◽  
Swosti Mohanty ◽  
Chandni Jain
Keyword(s):  
Standard Treatment ◽  
Rare Complication ◽  
Diclofenac Sodium ◽  
Tissue Necrosis ◽  
Cytotoxic Effects ◽  
Direct Damage ◽  
Nicolau Syndrome ◽  
Syndrome Diagnosis ◽  
Embolia Cutis Medicamentosa ◽  
Pigmentary Pattern

Nicolau syndrome (NS) is a rare complication characterized by tissue necrosis that occurs after parenteral injection of drugs. The exact pathogenesis is uncertain, but there are several hypotheses, including direct damage to the end artery, acute vasospasm and cytotoxic effects of the drug. Severe pain in the immediate post injection period and purplish discoloration of the skin with reticulate pigmentary pattern is characteristic of this syndrome. Diagnosis is mainly clinical and there is no standard treatment for the disease. Herein, we present a rare case of NS due to Diclofenac Sodium (Voltaren®) injection in an 80-year-old female suffering from Lower Respiratory Tract Infection (LRTI) who was managed conservatively. Keywords: Nicolau Syndrome, Embolia cutis medicamentosa, Voltaren, Diclofenac sodium

Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol

2000 ◽  
Vol 23 (6) ◽  
pp. 638-639 ◽  
Author(s):  
V. Bzdúch ◽  
D. Behúlová ◽  
L. Kozák ◽  
J. Škodová ◽  
E. Véghová ◽  
...  
Keyword(s):  
Plasma Cholesterol ◽  
Opitz Syndrome

Incidence of Smith-Lemli-Opitz syndrome in Slovakia

2000 ◽  
Vol 90 (3) ◽  
pp. 260-260 ◽  
Author(s):  
Vladim�r Bzd�ch ◽  
Darina Beh�lov� ◽  
Jozef�na ?kodov�
Keyword(s):  
Opitz Syndrome

scholarly journals Auditory phenotype of Smith–Lemli–Opitz syndrome

2021 ◽  
Author(s):  
Christopher K. Zalewski ◽  
Sarah A. Sydlowski ◽  
Kelly A. King ◽  
Simona Bianconi ◽  
An Dang Do ◽  
...  
Keyword(s):  
Opitz Syndrome

scholarly journals Cholesterol deficit but not accumulation of aberrant sterols is the major cause of the teratogenic activity in the Smith-Lemli-Opitz syndrome animal model

2000 ◽  
Vol 41 (4) ◽  
pp. 637-646 ◽  
Author(s):  
Wassila Gaoua ◽  
Claude Wolf ◽  
Françoise Chevy ◽  
Françoise Ilien ◽  
Charles Roux
Keyword(s):  
Animal Model ◽  
Opitz Syndrome

scholarly journals 7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts

1998 ◽  
Vol 39 (3) ◽  
pp. 647-657 ◽  
Author(s):  
Megumi Honda ◽  
G.S. Tint ◽  
Akira Honda ◽  
Lien B. Nguyen ◽  
Thomas S. Chen ◽  
...  
Keyword(s):  
Cholesterol Biosynthesis ◽  
Skin Fibroblasts ◽  
Opitz Syndrome
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