Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome

2014 ◽  
Vol 164 (12) ◽  
pp. 3083-3087 ◽  
Author(s):  
Agne Liedén ◽  
Malin Kvarnung ◽  
Daniel Nilssson ◽  
Ellika Sahlin ◽  
Elisabeth Syk Lundberg
Keyword(s):  
Causative Mechanism ◽  
Intragenic Duplication

Ganser syndrome – 100 years on

1999 ◽  
Vol 16 (3) ◽  
pp. 115-117 ◽  
Author(s):  
Kelwyn Williams
Keyword(s):  
Causative Mechanism ◽  
Unresolved Grief ◽  
Dissociative Symptoms ◽  
Made In

AbstractA patient presenting with psychogenic paralysis then Ganser syndrome is described. Formulation is made in terms of unresolved grief manifesting as shifting dissociative symptoms. Treatment and the patient's resistance to it are discussed. The nosological status of Ganser syndrome 100 years on is reviewed and the role hysteria as a causative mechanism endorsed.

scholarly journals Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Jun Miyazaki ◽  
Mayuko Ito ◽  
Haruki Nishizawa ◽  
Takema Kato ◽  
Yukito Minami ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Intragenic Duplication

scholarly journals Assessment of the Effects of SARS-Cov-2 Infection on Multiple Organs Using Laboratory Indices

2021 ◽  
Vol 17 (2) ◽  
pp. 73-78
Author(s):  
Jianwei Zhou ◽  
Yu Li ◽  
Cui Kong ◽  
Yizhao Li ◽  
Yao Liang
Keyword(s):  
Reference Range ◽  
Normal Range ◽  
Causative Mechanism ◽  
Gamma Glutamyltransferase ◽  
Multiple Organs ◽  
Upper Limit ◽  
Laboratory Results ◽  
Heart Injury ◽  
Beta 2 Microglobulin ◽  
Biochemical Indices

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-Cov-2) is still a severe threaft for human health currently, and the researches about it is a focus topic worldwide. Aim of the study: In this study, we will collect some laboratory results of the patients with coronavirus disease (COVID-19) to assess the function of liver, heart, kidney and even pancreas.  Subjects and Methods: Laboratory results of the patients with COVID-19 are collected. The biochemical indices are classified and used to assess the according function of liver, heart, kidney; meantime, and blood glucose is also observed and taken as an index to roughly evaluate pancreas. Results: There were some indices exhibited abnormal. For patient 1, the ratio of albumin and globulin slightly was lower than the down-limit of reference range. For patient 2, alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyltransferase (GGT), creatine kinase (CK), creatinine kinase-MB isoenzyme (CK-MB), lactate dehydrogenase (LDH), alpha-hydroxybutyric dehydrogenase (HBDH), and beta-2 microglobulin (β2-MG) were respectively higher than the according upper limit of the reference range, while prealbumin (PA) was lower than the down limit. For patient 3, GGT, CK, PA were high than normal range. For patient 4, CK, LDH, HBDH were higher than the upper range. Conclusion: Infection of SARS-Cov-2 could cause liver and heart injury, and it is suggested that clinicians and researchers should pay more attention on the prevention, treatment and causative mechanism of such an injury.

scholarly journals The genomic structure of the highly-conserved dmrt1 gene in Solea senegalensis (Kaup, 1868) shows an unexpected intragenic duplication

PLoS ONE ◽  
2020 ◽  
Vol 15 (11) ◽  
pp. e0241518 ◽  
Author(s):  
Ismael Cross ◽  
Emilio García ◽  
María E. Rodríguez ◽  
Alberto Arias-Pérez ◽  
Silvia Portela-Bens ◽  
...  
Keyword(s):  
Genomic Structure ◽  
Solea Senegalensis ◽  
Dmrt1 Gene ◽  
Intragenic Duplication

Recurrent transient quadriparesis after minor cervical trauma associated with bilateral partial agenesis of the posterior arch of the atlas

1996 ◽  
Vol 84 (4) ◽  
pp. 663-665 ◽  
Author(s):  
Martijn Torreman ◽  
Ivo T. H. J. Verhagen ◽  
Menno Sluzewski ◽  
Alexander J. M. Kok ◽  
Willem Jan van Rooij
Keyword(s):  
Spinal Cord ◽  
Posterior Arch ◽  
Review Of The Literature ◽  
Cervical Trauma ◽  
Content Type ◽  
Causative Mechanism ◽  
Type D ◽  
Aggressive Management ◽  
Type C ◽  
Fine Print

✓ The case of a 33-year-old woman with bilateral partial agenesis (type D) of the posterior arch of the atlas and recurrent transient quadriparesis due to contusion of the spinal cord after minor cervical trauma is described. At least some patients with type C or D congenital anomalies of the posterior arch of the atlas are prone to transient quadriparesis; thus a more aggressive management is advocated for them. Radiological and surgical findings showing the possible causative mechanism are presented and a review of the literature is given.

A case of sudden variation in nocturnal mesospheric temperatures: Variability and its causative mechanism

2012 ◽  
Vol 78-79 ◽  
pp. 125-131 ◽  
Author(s):  
A. Taori ◽  
A.P. Kesarkar ◽  
K. Niranjan Kumar ◽  
T.K. Ramkumar
Keyword(s):  
Causative Mechanism

M1865 Hereditary Pancreatitis Caused by Intragenic Duplication Affecting the Activation Peptide of Human Cationic Trypsinogen (PRSS1)

2010 ◽  
Vol 138 (5) ◽  
pp. S-434
Author(s):  
Maiken T. Joergensen ◽  
Andrea Geisz ◽  
Klaus Brusgaard ◽  
Ove B. Schaffalitzky de Muckadell ◽  
Anne-Marie Gerdes ◽  
...  
Keyword(s):  
Hereditary Pancreatitis ◽  
Cationic Trypsinogen ◽  
Intragenic Duplication ◽  
Activation Peptide

Prostanoid production via COX-2 as a causative mechanism of rodent postoperative ileus

2001 ◽  
Vol 121 (6) ◽  
pp. 1354-1371 ◽  
Author(s):  
Nicolas T. Schwarz ◽  
Jörg C. Kalff ◽  
Andreas Türler ◽  
Britta M. Engel ◽  
Simon C. Watkins ◽  
...  
Keyword(s):  
Postoperative Ileus ◽  
Causative Mechanism ◽  
Prostanoid Production ◽  
Cox 2
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