CASK related disorder: Epilepsy and developmental outcome

2021 ◽  
Vol 31 ◽  
pp. 61-69
Author(s):  
Thea Giacomini ◽  
Sara Nuovo ◽  
Ginevra Zanni ◽  
Maria Margherita Mancardi ◽  
Raffaella Cusmai ◽  
...  
Author(s):  
Akihisa Okumura ◽  
Fumio Hayakawa ◽  
Toru Kato ◽  
Kuniyoshi Kuno ◽  
Kazuyoshi Watanabe

2018 ◽  
Vol 49 (S 01) ◽  
pp. S1-S12
Author(s):  
E. Nicolai ◽  
C. Gobert ◽  
Y. Snazjer ◽  
P. Clapuyt ◽  
M. Nassogne ◽  
...  
Keyword(s):  

Author(s):  
Dr. Ratheesh P. ◽  
Dr. Abhayadev A. ◽  
Dr. Varsha Sumedhan ◽  
Dr. Meghna P P. ◽  
Dr. Srinivasan M ◽  
...  

Glaucoma is a diverse group of disorders affecting the eye with a common characteristic potentially progressive optic neuropathy that is determined by both structural changes and functional deficit in which IOP is a key modifiable factor. In Primary Open Angle Glaucoma (POAG), IOP independent mechanisms of glaucomatous nerve damage and visual field loss with unobstructed angle of anterior chamber is observed. The patient has reported gradual diminution of peripheral aspect of visual field (Rt. eye - 6/12 and Lt. eye - 6/12 on Snellen’s distant vision chart) in both eyes for 2 years. There was marked peripheral field defect on both confrontation test and perimetry visual field analysis test. The disease shows clinical similarity with Kaphaja Adhimantha, a disease affecting the whole eye mentioned in Susruta Samhita and Ashtanga Hrudaya. It is a chronic disease comes under life style related disorder. Dukhena Roopam Pasyathi (distorted image or constricted visual field), Sirodukha (headache), Srava (watering), Kandu (itching), Pamsupoornatha (foreign body sensation), Aviladarsana (diminished vision) and Gourava (heaviness of eye and head) are the clinical findings explained in the context of Kaphaja Adhimantha. These clinical finding mentioned in classical literature shows resemblance with POAG. The meticulous deployment of kaphaja Abhisyandha- Adhimantha treatment protocol can be used to prevent the progression of ganglionic damage and preservation of eye sight. The logical interpretation on the basis of both subjective and objective clinical findings concluded the diagnosis as Kaphaja Adhimantha and treatment principle adopted was Apatharpana, Kaphahara, Abhisyandhahara and Srothovisodhana. After treatment his vision has improved as 6/6 (Rt. Eye) and 6/6 (Lt. Eye) and remarkable change in field analysis. The study discusses about the effectiveness of Ayurvedic management in POAG.


2014 ◽  
Vol 99 (Suppl 2) ◽  
pp. A526.3-A526 ◽  
Author(s):  
N Gogatishvili ◽  
T Ediberidze ◽  
G Lomidze ◽  
N Tatishvili ◽  
S Kasradze

1996 ◽  
Vol 20 (5) ◽  
pp. 385-396 ◽  
Author(s):  
Asher Ornoy ◽  
V. Michailevskaya ◽  
I. Lukashov ◽  
R. Bar-Hamburger ◽  
S. Harel

2020 ◽  
Vol 8 ◽  
pp. 232470962095777 ◽  
Author(s):  
Maria Elena Romero-Ibarguengoitia ◽  
Consuelo Cantú-Reyna ◽  
Dalia Gutierrez-González ◽  
Héctor Cruz-Camino ◽  
Arnulfo González-Cantú ◽  
...  

The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort. This multisystem disorder primarily affects the central nervous system, the gastrointestinal, and the skeletal systems. In this article, we describe the first Mexican patient diagnosed by ES. The homozygous c.433C>T (p.Arg145*) variant of the OTUD6B gene confirmed this intellectual disability syndrome. In addition to seizures and other more frequently reported manifestations of this condition, this is the third patient with associated hypothyroidism and hypogammaglobulinemia, underscoring the value of screening for these conditions in other patients. The current challenge with this patient is to ensure medical management of his seizures and provide him with a better quality of life. The possibilities of additional therapeutic approaches may increase by understanding the physiopathology of the involved pathways.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Leonardo Santana Novaes ◽  
Letícia Morais Bueno-de-Camargo ◽  
Carolina Demarchi Munhoz

AbstractThe persistence of anxiety and the deficit of fear memory extinction are both phenomena related to the symptoms of a trauma-related disorder, such as post-traumatic stress disorder (PTSD). Recently we have shown that single acute restraint stress (2 h) in rats induces a late anxiety-related behavior (observed ten days after stress), whereas, in the present work, we found that the same stress impaired fear extinction in animals conditioned ten days after stress. Fourteen days of environmental enrichment (EE) prevented the deleterious effect of stress on fear memory extinction. Additionally, we observed that EE prevented the stress-induced increase in AMPA receptor GluA1 subunit phosphorylation in the hippocampus, but not in the basolateral amygdala complex and the frontal cortex, indicating a potential mechanism by which it exerts its protective effect against the stress-induced behavioral outcome.


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