Neonatal inflammatory skin and bowel disease type 1 caused by a complex genetic defect and responsive to combined anti‐TNF‐alpha and IL‐12/23 blockade

2022 ◽  
Author(s):  
Liat Samuelov ◽  
Ofer Sarig ◽  
Kiril Malovitski ◽  
Shir. Bergson ◽  
Odile Meijers ◽  
...  
Keyword(s):  
Bowel Disease ◽  
Genetic Defect ◽  
Disease Type ◽  
Tnf Alpha ◽  
Inflammatory Skin

Inflammatory bowel disease in glycogen storage disease type 1 B

1995 ◽  
Vol 25 (S1) ◽  
pp. S160-S162 ◽  
Author(s):  
H. Schulman ◽  
Z. Weizman ◽  
Y. Barki ◽  
E. Maor ◽  
Y. Hertzanu
Keyword(s):  
Inflammatory Bowel Disease ◽  
Glycogen Storage Disease ◽  
Bowel Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Inflammatory Bowel

scholarly journals Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Suzan Boutary ◽  
Marie Caillaud ◽  
Mévidette El Madani ◽  
Jean-Michel Vallat ◽  
Julien Loisel-Duwattez ◽  
...  
Keyword(s):  
Mouse Models ◽  
Disease Type ◽  
Major Step ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Levels ◽  
Positive Effects ◽  
Severity Of The Disease ◽  
Tooth Disease

AbstractCharcot-Marie-Tooth disease type 1 A (CMT1A) lacks an effective treatment. We provide a therapy for CMT1A, based on siRNA conjugated to squalene nanoparticles (siRNA PMP22-SQ NPs). Their administration resulted in normalization of Pmp22 protein levels, restored locomotor activity and electrophysiological parameters in two transgenic CMT1A mouse models with different severity of the disease. Pathological studies demonstrated the regeneration of myelinated axons and myelin compaction, one major step in restoring function of myelin sheaths. The normalization of sciatic nerve Krox20, Sox10 and neurofilament levels reflected the regeneration of both myelin and axons. Importantly, the positive effects of siRNA PMP22-SQ NPs lasted for three weeks, and their renewed administration resulted in full functional recovery. Beyond CMT1A, our findings can be considered as a potent therapeutic strategy for inherited peripheral neuropathies. They provide the proof of concept for a new precision medicine based on the normalization of disease gene expression by siRNA.

Transition to eliglustat in an individual with Gaucher disease type 1 on antipsychotic medication

2021 ◽  
Vol 132 (2) ◽  
pp. S80
Author(s):  
Damara Ortiz ◽  
Joshua Barch ◽  
Kayla Segady ◽  
Nadene Henderson
Keyword(s):  
Antipsychotic Medication ◽  
Gaucher Disease ◽  
Disease Type ◽  
Gaucher Disease Type 1

scholarly journals Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 989
Author(s):  
Cecilia Lazea ◽  
Simona Bucerzan ◽  
Camelia Al-Khzouz ◽  
Anca Zimmermann ◽  
Ștefan Cristian Vesa ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Cardiac Involvement ◽  
Disease Type ◽  
Clinical Onset ◽  
Lysosomal Disorders ◽  
Electrocardiographic Changes ◽  
Gaucher Disease Type 1 ◽  
And Function ◽  
Cardiac Manifestations

Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in a group of Romanian GD patients. Phenotypic and genotypic characterisation was carried out in 69 patients with GD type 1. Annual echocardiography and electrocardiography were performed to assess pulmonary pressure, morphology and function of the valves and electrocardiographic changes. Nine patients (13%) exhibited baseline echocardiographic signs suggesting PH. Mitral regurgitation was present in 33 patients (48%) and aortic regurgitation in 11 patients (16%). One patient presented aortic stenosis. Significant valvular dysfunction was diagnosed in 10% of patients. PH was associated with greater age (p < 0.001), longer time since splenectomy (p = 0.045) and longer time between clinical onset and the start of enzyme replacing therapy (p < 0.001). Electrocardiographic changes were present in five patients (7%).

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