Polskie Archiwum Medycyny Wewnętrznej
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Pol. Arch. Med. Wewn. · Oct 2024
Rare transthyretin gene variants (p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys and p.Phe53Leu): diagnostic pitfalls and clinical characteristics of Polish patients with transthyretin cardiac amyloidosis.
The knowledge about clinical features of Polish patients with hereditary type of transthyretin cardiac amyloidosis (ATTR-CA) is scant. ⋯ This study enriches our knowledge regarding genotype-phenotype correlations of specific TTR variants, broadens the spectrum of identified TTR variants among Polish population, and shows limited value of [99mTc]Tc-DPD scintigraphy in some patients with hereditary ATTR-CA. In cases with strong suspicion of ATTR-CA and inconclusive [99mTc]Tc-DPD scintigraphy results, genetic testing should be considered.
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Pol. Arch. Med. Wewn. · Oct 2024
Diagnosis of sepsis: which clinical and laboratory biomarkers are useful?
The quest for an unequivocal diagnostic tool for sepsis has persisted for decades, but this goal remains elusive. The diagnosis of sepsis is characterized by its complexity, which encompasses dozens of biochemical, hematologic, and immunologic parameters as well as complex microbiological diagnostics. During the last decade, the integration of omics technologies has further complicated this landscape. ⋯ In the following review, we provide an overview of select diagnostic biomarkers that are deemed readily applicable in routine clinical practice, thus extending beyond the confines of university hospitals. Verification of the reliability and usefulness of a diagnostic parameter generally takes several years, and this process is more difficult in patients with sepsis compared with other patients because of the complexity of this clinical condition. Nevertheless, the introduction of new technologies, the intensive use of bedside diagnostics, and the contribution of omics technologies are moving us toward the realization of personalized medicine and theranostics.
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Pol. Arch. Med. Wewn. · Oct 2024
How to treat patients with thrombotic antiphospholipid syndrome in 2024?
Antiphospholipid syndrome encompasses a range of clinical conditions, particularly thrombotic or obstetrical manifestations, associated with the presence of antiphospholipid antibodies. Managing thrombotic antiphospholipid syndrome in daily clinical practice can be challenging and requires thorough risk stratification and tailored treatment strategies. Primary prophylaxis focuses on improving traditional thrombosis risk factors and, in certain situations, may include low-dose aspirin and / or prophylactic anticoagulants (e.g., low-molecular-weight heparin). ⋯ In some cases, a combination of vitamin K antagonists and low-dose aspirin, vitamin K antagonists with international normalized ratio target >3 or a switch to therapeutic doses of low-molecular-weight heparin might be employed. The use of hydroxychloroquine is essential for patients with secondary systemic lupus erythematosus and may be considered for patients with recurrent thrombosis. In other selected situations, the use of immunomodulatory agents can be considered.