Lege Artis Medicinae

[JAK2 V617F: a new risk factor of stent thrombosis?]

PINCZÉS István, FEKETE Viktória, ZÁMOLYI Károly

MARCH 20, 2011

Lege Artis Medicinae - 2011;21(03)

[INTRODUCTION - Although the introduction of stents has dramatically improved the efficiency of percutaneous coronary interventions, a new complication, the stent thrombosis has appeared. Owing to intensive research, the incidence of this previously common complication is currently 1%. Because of the high mortality and morbidity, it is important to find more and more predictors, which might help to further reduce the incidence. CASE REPORT - Our elderly male patient presented with acute anterior myocardial infarct. Stent implantation of the left anterior descendent branch was performed using coronarography, with no complications. After five days without any symptoms, ST elevation recurred and subacute stent thrombosis was deteceted. Because of the laboratory results showing thrombocytosis, we performed JAK2 V617F screening, with a positive result. Prolonged heparin therapy, platelet aggegation inhibition at a transiently elevated dose and hydroxyurea treatment because of the myeloproliferativ malignancy were used. At the follow-up visit, the patient did not report any complaints, and cell counts for all three myeloid cell lines were in the normal range. CONCLUSION - The thrombogenic feature of the classic myeloproliferative disorders is well-known, and JAK2 V617F mutations further increase the risk. In our departement, screeing for such genetic alteration was performed in patients with stent thrombosis and a platelet count higher than 450 G/l. Two of the three cases had positive results. Supported by the literature, we think that the hematologic disease lead to the thrombotic complication in our patients. In our opinion, the JAK2 V617F is a potential risk factor of stent thrombosis.]

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[Perindopril plus Indapamid CombinAtion blood preSSure reductiOn study (PICASSO)]

FARSANG Csaba

[INTRODUCTION - International and Hungarian (JNC-7, ESH/ESC2007 és 2009, MHT 2009) Guidelines suggest a target blood pressure <140/90 mmHg for hypertensive patients, and <130/80 mmHg for those with high/very high cardiovascular risk (e.g. patients with diabetes mellitus, chronic renal disease). It was proved that for achieving the most efficient antihypertensive effect and reducing side effects, thd use of drug combinations is needed in most patients. In Hungary, ACE-inhibitor plus diuretic combination is one of the most frequently used one in Hungary. The aim of the PICASSO study was to evaluate the efficacy and metabolic effects of the fixed combination of high-dose perindopril plus indapamide (Coverex-AS Komb Forte®) in clinical practice of hypertonologists, cardiologists and general practicioners. PATIENTS AND METHODS - Patients with uncontrolled, grade 1 or 2 primary hypertension, age, >18years were involved in the open, 3-month, multicentre, prospective, observational, non-interventional clinical study if the treating physician indicated a combination treatment with higher dose antihypertensive drugs. Blood pressure (also with ABPM), heart rate, metabolic parameters (plasma lipids, blood sugar, Na, K, creatinine, uric acid, GGT) were measured by routine methods, medical history and quality of life parameters were registered on a validated questionnaire. Changes in the above parameters were also separately evaluated in patients with different risk factors or with concomitant diseases. RESULTS - Data of 9683 patients were evaluated (54% women, 46% men, average age 61.8 years). By the end of the therapy used in the study, blood pressure average decreased from 159/93 to 131/80, by ABPM from 145/83 to 126/74 mmHg (24hr averages, systolic/diastolic blood pressure, respectively), the heart rate from 79 to 73 beats/min (p<0,001). Target blood pressure was achieved in 75,4% of patients with no major concomitant disease, but only in 14% of those with a concomitant disease characterised by lower target blood pressure. The diurnal index by ABPM did not change substantially. Clinically significant decreases were found in the plasma levels of total cholesterol, LDL-cholesterol, triglycerides, fasting glucose and uric acid levels, but there were no major changes in serum levels of HDL-cholesterol, Na, K, and GGT. Quality of life parameters significantly improved by the end of the study. CONCLUSIONS - Combinations of perindopril and indapamide can be successfully and safely used in everyday practice.]

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[Creatine plays a major role in the energy supply of brain and muscle tissues. In creatine deficiency states, insufficient energy supply of the brain tissue may lead to mental retardation with speech delay and behavioural problems, epilepsy and extrapyramidal symptoms, while that of the muscle tissue might result in hypotonia. Creatine deficiency has been shown to result either from dysfunction of the two enzymes involved in its synthesis, namely arginine:glycine amidinotransferase and guanidinoacetic methyltransferase, or from impairment of the SLC6A8 transporter protein that is responsible for the cellular uptake of creatine. Synthesis disorders can be efficiently treated by creatine supplementation. The therapy is the most efficient if it is started in time, before the development of irreversible damages. Thus, in case of mental retardation associated with delayed speech development or behavioural problems, or epilepsy of unknown origin, diagnostic tests for creatine deficiency are recommended as early as possible. In creatine-transport disorder, the results of treatments to increase the intracellular creatine pool are controversial]

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