Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.

We report two unrelated Bulgarian families with hereditary transthyretin (ATTR) amyloidosis due to a rare p.Glu74Leu (Glu54Leu) pathogenic variant found in seven individuals-three of them symptomatic. Only one family with the same variant and with a Swedish origin has been clinically described so far.

Screening for mild cognitive impairment in patients with cardiovascular risk factors.

Aim: Cardiovascular risk factors are also risk factors for cognitive impairment. They have cumulative effect in target organ damage. The precise correlation between cardiovascular risk factors and cognitive impairment, as well as assessing the extent to which they may affect cognitive functioning, is difficult to ascertain in everyday clinical practice.

[The comprehensive examination of patients with recurrent calcium nephrolithiasis].

Hypercalciuria is one of the main causes of recurrent generation of urinary calcium-containing calculi. 107 patients with recurrent calcium nephrolithiasis were examined and results presented. Concentrations of potassium, sodium, chlorides, calcium, phosphorus, uric acid and creatinine were investigated in serum and urine, as well as indices of acid-base balance in arterial blood.

[The serum concentration of trace elements in chronic kidney failure].

The serum copper, zinc, selenium and magnesium levels were studied in 37 patients with chronic renal failure of various degree. The examination of the oligoelements and magnesium was performed on flame and electrothermal atomic absorption spectrophotometry. Reference values from 345 clinically healthy persons were used in the interpretation of the results.