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Living with spinal muscular atrophy (SMA)

by admin

The focus of the new video series “Living with Rare Diseases” is Spinal Muscular Atrophy (SMA) – an inherited neuromuscular disease, affecting 1 in 11 000 newborns. There are about 160 patients diagnosed with this rare disease in Bulgaria. Thanks to the development of medicine, people with SMA in Bulgaria have access to an innovative treatment since 2019 which provides an opportunity for a better future, if started early on time. See how the lives of Alexander and Nikolinka Matsoeva, the Kunovi family and Malena Vasileva have changed 3 years after access to treatment and how the difficulties have made them stronger and more valuable people!

 

Rare case of urticaria, associated with vibration disease

by informer
One of the modern definitions of urticaria is describing it as a
condition, characterized by the development of wheals, angioedema
or both. It is classified as acute (with duration < 6 weeks) and chronic
(> 6 weeks respectively), the second being divided additionally to
spontaneous and inducible urticaria.
Vibratory urticarial / angioedema is amongst the rarest forms of
chronic inducible urticaria. There are hereditary and acquired types,
the latter being more frequent and occasionally occupationally derived.
According to the prevalent perspective, the pathogenic mechanism is
related to a nonimmunologic reaction. First-line therapy includes non-
sedating antihistamines in conventional or higher doses. Occupational
exposure to local and whole-body vibrations, which determines the
vibration disease, could trigger exacerbations of chronic urticaria,
even though that occurs seldom. In absence of precise diagnostics
and adequate treatment, the frequent flare-ups of this rarely seen
form could worsen the patients’ quality of life.
The clinical case we report, about association between urticaria
and vibration disease, will contribute to improvement of the complex
diagnostic-therapeutic algorithm in urticaria, as the goal is vaster
knowledge of rare forms of urticaria and more favorable course of
the disease. Optimal collaboration between allergists, dermatologists,
specialists in occupational diseases and general practitioners in
cases like this is necessary, in order to increase the quality of medical
care, which will lead to better results from the performed diagnostic-
therapeutic procedures.
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