scholarly journals Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

2020 ◽  
Vol 8 (1) ◽  
Author(s):  
Aurélien Trimouille ◽  
Florent Marguet ◽  
Fanny Sauvestre ◽  
Eulalie Lasseaux ◽  
Fanny Pelluard ◽  
...  
2017 ◽  
Vol 25 (8) ◽  
pp. 1011-1014 ◽  
Author(s):  
Jamal Ghoumid ◽  
Florence Petit ◽  
Odile Boute-Benejean ◽  
Frédéric Frenois ◽  
Maryse Cartigny ◽  
...  

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

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
F Kammoun ◽  
C Triki ◽  
A Masmoudi ◽  
C Mhiri

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.


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.


2020 ◽  
Vol 32 (3) ◽  
pp. 463-466 ◽  
Author(s):  
Arno Wünschmann ◽  
Robert Lopez-Astacio ◽  
Anibal G. Armien ◽  
Colin R. Parrish

A juvenile raccoon ( Procyon lotor) was submitted dead to the Minnesota Veterinary Diagnostic Laboratory for rabies testing without history. The animal had marked hypoplasia of the cerebellum. Histology demonstrated that most folia lacked granule cells and had randomly misplaced Purkinje cells. Immunohistochemistry revealed the presence of parvoviral antigen in a few neurons and cell processes. PCR targeting feline and canine parvovirus yielded a positive signal. Sequencing analyses from a fragment of the nonstructural protein 1 ( NS1) gene and a portion of the viral capsid protein 2 ( VP2) gene confirmed the presence of DNA of a recent canine parvovirus variant (CPV-2a–like virus) in the cerebellum. Our study provides evidence that (canine) parvovirus may be associated with cerebellar hypoplasia and dysplasia in raccoons, similar to the disease that occurs naturally and has been reproduced experimentally by feline parvoviral infection of pregnant cats, with subsequent intrauterine or neonatal infections of the offspring.


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