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IX международен симпозиум за оценка на здравни технологии

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На 7 октомври 2022 г. в гр. София за 9-ти пореден път предстои да се проведе Mеждународния симпозиум за оценка на здравни технологии с фокус редки болести и лекарства сираци.

Традиционно този форум се организира от Институт по редки болести, като тази година инициативата е подкрепена и от световната организация International Collaboration on Rare Diseases and Orphan Drugs.

Основна тема на симпозиума “Impact of EU HTA Regulation on Rare Diseases and Orphan Drugs” e приетият в края на 2021 г. Регламент (ЕС) 2021/2282 относно оценката на здравните технологии.

Събитието събира заедно всички заинтересовани страни – експерти от здравни власти, представители на академичната общност, Националния алианс на хората с редки болести и индустрия.

Международните лектори са експерти от Белгия, Великобритания, Испания, Италия, Полша и Холандия, като в рамките на симпозиума ще бъде обсъден регламента в два негови аспекта – непосредственото планиране на прилагането му на национално и европейско ниво, както и въздействието на този нормативен акт върху достъпа до иновативни терапии.

IX международен симпозиум за оценка на здравни технологии е част от инициативите на Институт по редки болести подкрепящи постигането на основната му цел – подобряване на здравните грижи и живота на хората с редки болести.

Rare case of urticaria, associated with vibration disease

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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.

Combination of juvenile idiopathic arthritis and congenital neutropenia – a clinical case report

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A report of a clinical case of a 4-year-old boy with a diagnosis of juvenile idiopathic arthritis at the age of 3 when he was admitted to Pediatric Rheumatology Department. Based on the history of recurrent infections and laboratory data of neutropenia, a genetic study was performed confirming a mutation in the ELANE gene c.377C> T (p.Ser126Leu). The child is receiving concomitant immunosuppressive therapy for arthritis and treatment with granulocyte colony stimulating factor due to congenital neutropenia.Immune deficiencies are increasingly associated with autoimmune diseases. Timely diagnosis and balance in therapy, consisting of concomitant immunosuppression and prevention of infections, are important.

Read the full article here.

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