scholarly journals Gaucher's disease

2021 ◽  
pp. 147-154
Author(s):  
R. G. Saifutdinov ◽  
R. R. Akhunova ◽  
A. A. Kurshakov ◽  
E. I. Mitusheva ◽  
R. R. Saifutdinov ◽  
...  
Keyword(s):  
Clinical Case ◽  
Hereditary Disease ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Surgical Department ◽  
General Weakness ◽  
Difficulty Breathing ◽  
Lysosomal Accumulation ◽  
Genetic Examination ◽  
Rupture Of The Spleen

The article presents a rare clinical case of Gaucher's disease, a hereditary disease that belongs to lysosomal accumulation diseases. A 36-year-old patient was admitted to the clinic with complaints of pain in the left half of the abdomen, pain in the chest, cough with yellow sputum, difficulty breathing due to pain, general weakness. The mental underdevelopment, hepatosplenomegaly, anemia, thrombocytopenia, and the threat of rupture of the spleen were revealed in the process of collecting anamnesis and examination. The patient was transferred to the surgical department, and a splenectomy was performed. Histological examination of the spleen and genetic examination confirmed the diagnosis of Gaucher's disease.

scholarly journals Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Etsuro Nakanishi ◽  
Norihito Uemura ◽  
Hisako Akiyama ◽  
Masato Kinoshita ◽  
Sawamura Masanori ◽  
...  
Keyword(s):  
Microglial Activation ◽  
Biochemical Analysis ◽  
Neuronal Cell ◽  
Cell Loss ◽  
Pathological Changes ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Short Lifespan ◽  
Behavioral Abnormalities ◽  
Glucocerebrosidase Gene

AbstractHomozygous mutations in the lysosomal glucocerebrosidase gene, GBA1, cause Gaucher’s disease (GD), while heterozygous mutations in GBA1 are a strong risk factor for Parkinson’s disease (PD), whose pathological hallmark is intraneuronal α-synuclein (asyn) aggregates. We previously reported that gba1 knockout (KO) medaka exhibited glucosylceramide accumulation and neuronopathic GD phenotypes, including short lifespan, the dopaminergic and noradrenergic neuronal cell loss, microglial activation, and swimming abnormality, with asyn accumulation in the brains. A recent study reported that deletion of GBA2, non-lysosomal glucocerebrosidase, in a non-neuronopathic GD mouse model rescued its phenotypes. In the present study, we generated gba2 KO medaka and examined the effect of Gba2 deletion on the phenotypes of gba1 KO medaka. The Gba2 deletion in gba1 KO medaka resulted in the exacerbation of glucosylceramide accumulation and no improvement in neuronopathic GD pathological changes, asyn accumulation, or swimming abnormalities. Meanwhile, though gba2 KO medaka did not show any apparent phenotypes, biochemical analysis revealed asyn accumulation in the brains. gba2 KO medaka showed a trend towards an increase in sphingolipids in the brains, which is one of the possible causes of asyn accumulation. In conclusion, this study demonstrated that the deletion of Gba2 does not rescue the pathological changes or behavioral abnormalities of gba1 KO medaka, and GBA2 represents a novel factor affecting asyn accumulation in the brains.

Gaucher's Disease in an Asymptomatic 72-Year-Old

JAMA ◽  
1977 ◽  
Vol 237 (23) ◽  
pp. 2529 ◽  
Author(s):  
Ernest Beutler
Keyword(s):  
Gaucher's Disease ◽  
Gaucher’S Disease

scholarly journals Hemorrhagic bursitis and bone crises in chronic adult gaucher's disease: a case report

1982 ◽  
Vol 25 (11) ◽  
pp. 1369-1373 ◽  
Author(s):  
Gilbert Gelfand ◽  
Harry Bienenstock
Keyword(s):  
Case Report ◽  
Gaucher's Disease ◽  
Gaucher’S Disease

The neuropathology of infantile Gaucher's disease

1956 ◽  
Vol 72 (1) ◽  
pp. 121-131 ◽  
Author(s):  
R. M. Norman ◽  
H. Urich ◽  
O. C. Lloyd
Keyword(s):  
Gaucher's Disease ◽  
Gaucher’S Disease

scholarly journals Serum ferritin concentration in Gaucher's disease.

BMJ ◽  
1983 ◽  
Vol 286 (6381) ◽  
pp. 1864-1864 ◽  
Author(s):  
M A Morgan ◽  
A V Hoffbrand ◽  
M Laulicht ◽  
W Luck ◽  
S Knowles
Keyword(s):  
Serum Ferritin ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Ferritin Concentration ◽  
Serum Ferritin Concentration
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