The Croatian physician Klara Dajčeva (1897–1984) is analyzed in this paper as an incentive for the identification of women within the medical corps and the introduction of a female perspective into research into the history of medicine and society in our region. Her article “On the Influence of Adrenaline on Tissue Regeneration”, published in Liječnički vjesnik in 1921, omitted in all previously published sources, is identified in this paper as the first experimental and visual publication by a woman. The feminist narrative of Klara Dajčeva, as the only feminist known so far from the Croatian medical ranks, is presented, which has been determined to function as a link between medical observation and social criticism.
Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare inherited metabolic disease causing lipid accumulation in lysosomes. LAL-D is often unrecognized because clinical signs and symptoms of this disease overlap with some common liver diseases and not so rare dyslipidemias. Familial hypercholesterolemia (FH) is an inherited metabolic disorder causing elevated serum LDL-cholesterol levels which cause premature atherosclerosis and an increased risk of cardiovascular disease. As part of the universal screening of preschool children for FH which has been performed in Croatia for already three years, there is a possibility of detecting patients with LAL-D. The dyslipidemia panel is a genetic test which is a part of the screening for FH and which also tests the LIPA gene responsible for LAL-D. Therefore, the expert group proposes to determine also LAL activity in children with elevated levels of LDL-cholesterol and, if necessary, LIPA gene in the framework of FH screening to diagnose children with LAL-D. In this paper clinical signs and symptoms are described that should encourage physicians to test LAL activity in children who will not be genetically tested and do not have significantly elevated LDL-cholesterol values. The main criteria by which LAL-D can be clinically distinguished from other dyslipidemias are elevated activities of transaminases.
Rheumatoid arthritis (RA) is one of the most common chronic inflammatory rheumatic diseases primarily characterized by joint destruction, though it may also present with extra-articular manifestations. Despite current American College of Rheumatology/European Alliance of Associations for Rheumatology recommendations on the use of diagnostic ultrasound (US) as an additional tool in the diagnostic workup of RA, US has not yet been incorporated into standard disease activity indices or remission criteria. This review summarizes the latest published consensuses of professional societies for the quantification of US changes in rheumatology, as well as scoring systems for the quantification of synovitis, tenosynovitis, erosions and cartilage damage, with the aim of achieving US standardization. US aids in monitoring RA patients by enabling more objective assessment of disease activity, through detecting subclinical activity and differentiating between inflammatory and noninflammatory causes of elevated scores obtained using standard clinical indices. We believe that US in RA should find it’s main application in clinically doubtful cases exhibiting elevated disease activity scores using standard clinical indices, in screening of patients with arthralgia or undifferentiated arthritis, and especially in patients with stable remission in whom therapy reduction is being considered.
Cutaneous mastocytosis is a rare disorder characterized by the proliferation and accumulation of abnormal mast cells in the skin, without evidence of internal organ involvement. It represents the most common form of mastocytosis in childhood, whereas in adult patients cutaneous manifestations often indicate the presence of systemic disease. According to current classifications, three main clinical variants of cutaneous mastocytosis are distinguished: maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis, and cutaneous mastocytoma. The pathogenesis of the disease is most commonly associated with activating mutations of the KIT proto-oncogene, leading to constitutive activation of the KIT receptor and increased mast cell proliferation. The clinical presentation is highly heterogeneous and encompasses a broad spectrum of cutaneous manifestations, frequently accompanied by symptoms mediated by mast cell mediator release, such as pruritus, flushing, gastrointestinal complaints, and anaphylactic reactions. Diagnosis is based on clinical examination, a positive Darier’s sign, dermatohistopathological analysis, and assessment of baseline serum tryptase levels and KIT mutational status. Therapeutic management focuses on avoidance of triggering factors and symptomatic treatment, as causal therapy is currently not available. Cutaneous mastocytosis represents an important clinical sign that may indicate systemic disease and enables assessment of the risk of potentially life-threatening manifestations, including anaphylaxis.
Permanent central venous catheters (CVCs) are the least desirable form of access for chronic hemodialysis. However, they are acceptable when all other forms of long-term vascular access have been exhausted. In patients with thrombosis of the major veins of the shoulder girdle and pelvis, CVC placement and subsequent replacement are technically demanding procedures. We present the case of a 32-year-old patient in whom, due to thrombosis of both subclavian and iliac veins, a permanent dialysis CVC was placed directly into the inferior vena cava via a retroperitoneal approach. To reduce the risk of accidental catheter dislodgement and to facilitate future replacement, the catheter was inserted through a synthetic graft anastomosed to the inferior vena cava. The procedure was completed without complications, and after 18 months the catheter remains patent and fully functional. In patients with thrombosis of the central veins of the shoulder region and subclavian veins, permanent dialysis CVCs can be placed thoracoscopically into the superior vena cava or directly into the right atrium or inferior vena cava. In the present case, due to thoracic deformity, access to the inferior vena cava was selected and successfully achieved.
