Publications by authors named "B E R G Bica"

Although the terms "rare diseases" (RD) and "orphan diseases" (OD) are often used interchangeably, specific nuances in definitions should be noted to avoid misconception. RD are characterized by a low prevalence within the population, whereas OD are those inadequately recognized or even neglected by the medical community and drug companies. Despite their rarity, as our ability on discovering novel clinical phenotypes and improving diagnostic tools expand, RD will continue posing a real challenge for rheumatologists.

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Article Synopsis
  • Amyloidosis is a disease where certain proteins in the body misfold and build up in organs, which can cause problems in places like the kidneys, heart, and nerves.
  • It can often be hard to diagnose, but more people are being found to have it because doctors are getting better at testing for it.
  • Treatment depends on the specific type of amyloid protein, and catching the disease early is very important to help patients feel better.
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Background: A cost of illness (COI) study aims to evaluate the socioeconomic burden that an illness imposes on society as a whole. This study aimed to describe the resources used, patterns of care, direct cost, and loss of productivity due to systemic lupus erythematosus (SLE) in Brazil.

Methods: This 12-month, cross-sectional, COI study of patients with SLE (ACR 1997 Classification Criteria) collected data using patient interviews (questionnaires) and medical records, covering: SLE profile, resources used, morbidities, quality of life (12-Item Short Form Survey, SF-12), and loss of productivity.

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Article Synopsis
  • - Relapsing polychondritis is a rare disease affecting cartilage, causing painful inflammation mainly in the ears, nose, and respiratory tract, and can lead to severe complications.
  • - Diagnosis is often complicated by the disease's rarity and variable symptoms, which can range from mild flares to serious threats like airway collapse.
  • - In 2020, VEXAS syndrome was identified, linking autoinflammatory conditions with blood disorders, highlighting the connection between diseases like relapsing polychondritis and other systemic inflammatory syndromes.
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Background: Increased malignancy frequency is well documented in adult-systemic lupus erythematosus (SLE), but with limited reports in childhood-onset SLE (cSLE) series. We explored the frequency of malignancy associated with cSLE, describing clinical and demographic characteristics, disease activity and cumulative damage, by the time of malignancy diagnosis.

Method: A retrospective case-notes review, in a nationwide cohort from 27 Pediatric Rheumatology centres, with descriptive biopsy-proven malignancy, disease activity/damage accrual, and immunosuppressive treatment were compiled in each participating centre, using a standard protocol.

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