Full-text resources of CEJSH and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl

Results found: 2

first rewind previous Page / 1 next fast forward last

Search results

help Sort By:

help Limit search:
first rewind previous Page / 1 next fast forward last
1
Publication available in full text mode
Content available

A patient with overlap syndrome: systemic lupus erythematosus, dermatomyositis, and Sjögren’s syndrome – a rare overlapping diseases case report

100%
Sokołowska A., Iwański M., Dąbrowski P.
European Journal of Clinical and Experimental Medicine
|
2023
|
issue 3
659-662
EN
Introduction and aim. Autoimmune rheumatic diseases are a group of disorders with similar clinical, laboratory and immunological manifestations. Connective tissue diseases include systemic scleroderma, dermatomyositis or polymyositis, Sjögren’s syndrome, rheumatoid arthritis, and systemic lupus erythematosus. If the patient meets the diagnostic criteria for at least two of these diseases and has specific serologic markers, a diagnosis of overlap syndrome is possible. Description of the case. This case describes a 27-year-old man who had a history of paroxysmal fever, night sweats, erythema-like skin lesions on the forearms and lower legs, a feeling of progressive muscle weakness especially in the proximal muscles, and dry mouth. The patient was diagnosed with an overlap syndrome: systemic lupus erythematosus, dermatomyositis, and Sjögren’s syndrome. Conclusion. Overlap syndrome is difficult to treat due to its multisystem nature, requiring a symptomatic therapeutic approach and careful control of medication doses to reduce side effects while controlling disease activity.
2
Publication available in full text mode
Content available

A 16-year-old patient with Charcot Marie Tooth disease in variant c.217G>C of the INF2 gene and focal glomerulosclerosis – a case report

51%
Przygoda M., Matias D., Jurczak M., Sokołowska A., Raba K., Wołkanowski J., Rydzanicz M., Kosińska J., Płoski R., Aebisher D., Pyrkosz A.
European Journal of Clinical and Experimental Medicine
|
2021
|
issue 4
341-346
EN
Introduction. Charcot Marie Tooth disease (CMT) is currently one of the most commonly diagnosed and commonly hereditary sensorimotor neuropathies. Concluding from the literature, this is the first study describing the case of a patient with CMT disease in the c.217G> C variant of the INF2 gene and focal segmental glomerulosclerosis. Aim. To present a case of a 16-year-old patient suffering from CMT disease in variant c.217G> C of the INF2 gene and focal glomerulosclerosis. Description of the case. The text describes the CMT disease in a patient who underwent the WES / WGS-NGS genetic test and found a mutation within the INF2 gene at the chromosomal position hg38 14: 104701582-G> C, cDNA level c.217 G> C , notation at the p protein level (Gly73Arg). Genotype record according to Human Genome Variation Society: NM_022489.4: c. [217G> C]; [217 =]. The publication includes data on genetics, molecular mechanisms of the disease, diagnostic methods, rehabilitation and surgical treatment. Conclusion. CMT disease is a heterogeneous group of diseases caused by mutations in various genes. The incidence of this pathology has increased significantly in the last century. Currently, there are no treatments available to combat this disease, and symptomatic treatment is the only treatment available.
first rewind previous Page / 1 next fast forward last
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.