Echocardiographic Assessment of Left Ventricular Function in Type 1 Gaucher's Disease

There is predominate opinion among physicians managing type 1 Gauchers' disease (GD) that cardiac involvement is not an issue in these patients. In order to follow this hypothesis, we prospectively investigated 15 adult imiglucerase-treated type 1 GD patients by echocardiography, Doppler, and tissue Doppler echocardiography. This was a case-controlled study with 18 matched healthy volunteers. The obtained data was correlated with the levels of NT-proBNP (brain natriuretic peptide). None of the GD patients had clinical signs of heart disease. In 3 of the 15 patients, we observed echocardiographic signs of aortic and mitral valve calcification. The left ventricular systolic function was within normal limits. Compared to the control group, there was no statistically significant difference observed in the most sensitive indices of left ventricular diastolic function, parameter Em (P = .095), and E/Em ratio (P = .097), as demonstrated by tissue Doppler echocardiography. However, there was a positive correlation between the E/Em ratio and NT-proBNP plasma levels (P = .009). In conclusion, the prospective echocardiographic study of type 1 GD patients did not validate any left ventricular dysfunction. But, the E/Em ratio showed a strong statistical correlation with the most sensitive indicators of heart failure, NT-proBNP. Research on larger groups of patients and the usage of even more sensitive methods as strain-rate imaging will be necessary to confirm eventual myocardial involvement in GD patients

Survey of patients with iron deficiency anemia in haematology outpatient clinic

Background: Iron deficiency anaemia (IDA) is the most prevalent type of anaemia and a common cause for patient referrals to the haematology outpatient clinic. The aim of this study was to determine the number of patients with IDA treated at the Haematology Outpatient Clinic of the UMC Ljubljana in the period of two years, as well as to inquire into the causes for their referrals to the clinic, patient characteristics, their complete blood count results at initial examination, the prescribed therapy, the number and the causes of their follow-up visits. We draw special attention to the IDA onset mechanism, the microcytic anaemia therapy principles and the indications prompting a referral of an IDA patient to the haematology specialist. Methods: We undertook a retrospective analysis of the medical records of patients who were referred to the Haematology outpatient clinic of the UMC Ljubljana for examination in the two-year period between 1 January 2014 and 31 December 2015 and had been diagnosed with IDA on the basis of their clinical picture and their CBC values. Data were collected with the Hipokrat IT system and statistically evaluated with Microsoft Excel. Results: In the period relevant for our research, 277 patients of those who were referred to the Haematology outpatient clinic for medical examination were diagnosed with IDA. 11.6 % of these patients were male and 88.4 % female; 62.1 % of the female patients were of childbearing age. IDA was specified as the referral diagnosis in the cases of no more than 39 % of the patients referred to the specialist outpatient clinic, whilst the medical condition of the remaining percentage of patients was not identified by the referring doctor. Comorbidities were observed in 50.2 % of the patients, and for 62.5 % of the patients a follow-up appointment was scheduled by the treating haematologist. Of all patients, 63.5 % were treated with an intravenous iron preparation during their first examination at the outpatient clinic and a transfusion of erythrocytes was administered during such an examination to 4.3 % of the patients. Conclusion: Patients with IDA were often treated at our Haematology Outpatient Clinic in the relevant two-year period. The data indicates a poor recognition rate of this prevalent type of anaemia. IDA is not a blood disorder and the referral of IDA patients to the Haematology Outpatient Clinic is justified in the case of severe microcytic anaemia, when the patient does not respond to the oral or intravenous iron replacement therapy or if a concomitant change in the CBC persists despite the effective treatment with iron preparations

Slovensko strokovno stališče za zdravljenje s pripravki železa v nosečnosti

Slabokrvnost je najbolj pogost simptom v nosečnosti. Zaradi razvoja zarodka in hitre rasti ploda se močno povečajo potrebe organizma po železu in vitaminih. Zato je slabokrvnost zaradi pomanjkanja železa daleč najbolj razširjena oblika slabokrvnosti v nosečnosti. Anemija v nosečnosti je opredeljena z ravnijo hemoglobina (Hb), ki je manjša od 110 g/L. V normalni nosečnosti se sestava krvi pomembno spremeni. Povečanje celokupnega volumna krvi in hemostatske spremembe so fiziološke spremembe, ki omogočajo, da porodnica brez posledic prenese normalno izgubo krvi med porodom. Plazemski volumen se v nosečnosti poveča za 50 %, masa eritrocitov pa za 18 – 25 %, odvisno od razpoložljivega železa. Te spremembe povzročijo razredčitev koncentracije hemoglobna, kar poznamo kot fiziološko slabokrvnost v nosečnosti. Fiziološka slabokrvnost doseže vrh v 32. tednu nosečnosti. Zaradi fizioloških sprememb odkrijemo s presejalnimi testi v nosečnosti mnogo slabokrvnosti, ki bi sicer ostale neodkrite. Povečane ali spremenjene prehranske in presnovne zahteve v nosečnosti povzročijo, da je slabokrvnost zaradi pomanjkanja železa (sideropenična anemija) bolj pogosta. Prva nepravilnost v biokemičnih izvidih, ki kaže na pomanjkanje železa v nosečnosti, je zmanjšana koncentracija feritina (na pomanjkanje železa lahko sklepamo že, ko je vrednost feritina manjša od 20–30 g/L). Feritin je stabilen in zadovoljivo zrcali zaloge železa, za razliko od vrednosti serumskega železa. Zato učinkovito dodajanje železovih pripravkov in s tem preprečevanje sideropeničnih anemij lahko pričnemo že zelo zgodaj. Tako na zelo enostaven način učinkovito preprečimo nastanek zapletov v nosečnosti, ob porodu in v poporodnem obdobju. Slabokrvnost v nosečnosti je povezana s višjo pogostnostjo za prezgodnji porod, nizko porodno težo, z nujnostjo uporabe transfuzije ob in po porodu ter s poporodno depresijo

Insights on multiple myeloma treatment strategies

The introduction of new agents and management strategies over the past decade has resulted in a major step change in treatment outcomes with deepening responses and increased survival for patients with multiple myeloma. In daily clinical practice, healthcare professionals are now faced with challenges including, optimal treatment sequencing and changing treatment goals. In light of this, a group of experts met to discuss diagnostic and treatment guidelines, examine current clinical practice, and consider how new clinical trial data may be integrated into the management of multiple myeloma in the future

Cases of leukaemia in pregnancy in Slovenia during the period from 2006 to 2016

Incidenca levkemij, odkritih v nosečnosti, znaša od 1/10.000 do 1/100.000. Nemalokrat je ob odkritju bolezni z zdravljenjem s citostatiki potrebno začeti takoj. Citostatiki so za plod teratogeni, zato moramo pred pričetkom zdravljenja pretehtati vse možnosti in izbrati najbolj sprejemljivo. Predstavljamo primera akutne mieloične levkemije (AML) in kronične mieloične levkemije (KML), odkrita v nosečnosti, ki smo ju obravnavali v Univerzitetnem kliničnem centru v Ljubljani. Gre za edina primera v zadnjih desetih letih v Sloveniji. Bolnico z AML, podvrsta akutna promielocitna levkemija (APL), smo ob začetku 2. trimesečja nosečnosti zdravili z daunorubicinom in all-transretinoično kislino (ATRA). Glede na našo izkušnjo se zdi, da so priporočila za zdravljenje APL v nosečnosti realna, izvedljiva in predvsem varna za bolnico in plod. Pri bolnici s KML, ki je prvič prišla k nam tik pred porodom, je bila v ospredju izrazita levkocitoza 335 × 109/L, trombocitoza in splenomegalija. Zavračala je vse načine zdravljenja, v prvi vrsti levkoferezo. Kljub vsemu je brez porodnih zapletov rodila zdravega otroka. Porod je bil zaradi povečane vranice in posledične nevarnosti za njeno rupturo dokončan s carskim rezom. Na osnovi naše izkušnje lahko zaključimo, da ni moč priporočiti, pri kako velikem številu levkocitov je za mati in plod koristno začeti zdraviti z levkoferezo. Enako tudi ni jasno, kakšno tveganje za rupturo vranice v teh primerih predstavlja poskus vaginalnega poroda. Uganka ostaja tudi vprašanje, kolikokrat se zaradi levkemij različnih oblik poveča tveganje za trombembolični dogodek v nosečnosti, ki že sama po sebi nagiba k trobozam

Surgery Results in Low Relapse and Progression Rates in Extramedullary Plasmacytoma of the Head and Neck: A Case Cohort and Review of the Literature

Extramedullary plasmacytoma of the head and neck is a rare indolent neoplasm. Radiotherapy is often the preferred treatment option with excellent local control and survival. The risk of local recurrence or transformation to multiple myeloma is 10–30%. In our case-cohort, thorough, sensitive initial evaluation for disseminated clonal disease and the incorporation of surgery led to excellent results with no recurrences or systemic progression

The contemporary approach to CALR-positive myeloproliferative neoplasms

CALR mutations are a revolutionary discovery and represent an important hallmark of myeloproliferative neoplasms (MPN), especially essential thrombocythemia and primary myelofibrosis. To date, several CALR mutations were identified, with only frameshift mutations linked to the diseased phenotype. It is of diagnostic and prognostic importance to properly define the type of CALR mutation and subclassify it according to its structural similarities to the classical mutations, a 52-bp deletion (type 1 mutation) and a 5-bp insertion (type 2 mutation), using a statistical approximation algorithm (AGADIR). Today, the knowledge on the pathogenesis of CALR-positive MPN is expanding and several cellular mechanisms have been recognized that finally cause a clonal hematopoietic expansion. In this review, we discuss the current basis of the cellular effects of CALR mutants and the understanding of its implementation in the current diagnostic laboratorial and medical practice. Different methods of CALR detection are explained and a diagnostic algorithm is shown that aids in the approach to CALR-positive MPN. Finally, contemporary methods joining artificial intelligence in accordance with molecular-genetic biomarkers in the approach to MPN are presented