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Questions related from Viacheslav Pauls
It is known that desminopathy is characterized by expression of mutant desmin, chronic inflammation, muscle damage, increased levels of proinflammatory interleukins, etc. Some patients with...
4 weeks ago 3,124 10 View
It is known that in the early stages of desminopathy there is no spontaneous muscle activity. In the late stages of desminopathy, spontaneous muscle activity appears. What are the causes of...
11 April 2025 5,337 12 View
In the identified case of familial desminopathy (T341P DES mutation in heterozygous state), the son has bradycardia, but the father did not have bradycardia. How can this fact be explained?
08 September 2024 8,661 15 View
It is known that patients with desminopathy often die from pneumonia. Have pathomorphological studies of the lungs been performed in patients with desminopathy?
16 June 2024 1,440 7 View
It is known that in the early stages of desminopathy the muscles most often affected are: Semitendinosus, Gracilis and Sartorius. What is the reason for the damage to these particular muscles?
14 January 2024 9,743 7 View
In a patient with desminopathy (mutation Thr341Pro DES in the heterozygous state) with the progression of the disease, we note signs and symptoms that are also characteristic of botulism:...
19 June 2023 2,564 6 View
When staining with hematoxylin and eosin of a muscle biopsy from a patient with T341P desminopathy, we observe accumulations of inclusions similar to nuclei (arrows in figures 1 and 2, x280). And...
10 February 2023 3,264 4 View
A patient with desminopathy (mutation Thr341Pro DES in a heterozygous state) with the progression of the disease has a decrease in taste and smell, immunosuppression, and an increase in IgA in the...
03 November 2020 6,151 6 View
A patient with hereditary desminopathy (mutation Thr341Pro DES in a heterozygous state) with disease progression has a significant decrease in taste. How can this fact be explained?
16 September 2020 3,957 4 View
In a patient with hereditary desminopathy (Thr341Pro DES mutation in a heterozygous state) with disease progression over the past 7 years, the level of residual nitrogen in the blood increased 1.5...
08 April 2020 8,182 0 View
During the last year, a patient with desminopathy (Thr341Pro DES mutation) was found to have a 1.8 to 20-fold decrease in the level of circulating immune complexes, a 1.3-fold decrease in...
19 December 2017 5,100 0 View
Within three years, a patient with a desminopathy (Thr341Pro DES mutation) was found to have a 17% increase in the level of C4 complement components to 0.41 g / l (Norm 0.1-0.4 g / l).
01 January 1970 10,136 2 View
A patient with hereditary desminopathy (Thr341Pro DES mutation in a heterozygous state) was recommended to refuse toothpaste. He continued to brush his teeth twice a day with a toothbrush with...
01 January 1970 2,354 10 View
In a patient with hereditary desminopathy (mutation Thr341Pro DES in the heterozygous state) over the past three years, an increase in the blood uric acid level up to 440-480 µmol / l was...
01 January 1970 635 3 View
Over the past six months, a patient with hereditary desminopathy (Thr341Pro DES mutation in the heterozygous state) has a 1.6-fold increase in the level of the pro-inflammatory cytokine...
01 January 1970 3,455 6 View
