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.

[Endoperoxides and the immunological indices of patients with chronic pyelonephritis].

In 31 patients with chronic active pyelonephritis and 10 clinically healthy controls the following indices were followed up: the serum level of the endoperoxides and several parameters of humoral and cell immunity (T-lymphocytes, active T-lymphocytes, T-helpers, T-suppressors, B-lymphocytes, NK-cells, immunoglobulins G, A and (M), as well as the lysing activity of the natural killers towards the cell line K-562. The patients with chronic pyelonephritis were classified into two groups: I group--patients examined for serum peroxides in the acute phase of the inflammatory process and II group--patients examined in the subacute phase. A statistically significant differences was found for the serum endoperoxides between the patients form the I group (in the acute phase of the disease) and the healthy controls (respectively) 52.

[Comparative echographic and computed tomographic studies of acute focal bacterial nephritis].

The diagnostic potentialities of ultrasound and computed tomography for the early diagnosis of acute focal bacterial nephritis were studied in 12 patients. The echographic findings in all patients are similar: insular tumor-like zone, unclearly defined from the neighbouring parenchyma, hypo-, hyper- or isoechogenic, without liquefaction and lack of distant amplification. The computed tomographic image of 4 from 5 patients studied is as follows: perihilar defect with wedge-shaped form, hypodense structure, radially striated areas from the cavity system toward the parenchyma after applying of a contrast medium.

[Changes in the level of urinary secretory immunoglobulin A in patients with recurrent pyelonephritis].

The urine concentration of secretory immunoglobulin A was studied in 58 healthy persons (26 women and 32 men) and in 55 patients (44 women and 11 men) with chronic recurrent pyelonephritis before the beginning of the antibacterial treatment. An immunoenzyme method on a solid phase was used (ELISA). In 21 patients a lowered urine secretory immunoglobulin A level (IgA) was found, in 19 patients it was elevated and in 15 patients it was in normal ranges.

[Multiple bilateral parapelvic kidney cysts].

8 patients, 2 men and 6 women, 42 to 67 years of age, with bilateral multiple cysts of the renal sinus are described. 3/6 patients had macroscopic hematuria, pyelonephritis, 5/8 patients were with arterial hypertension and 4/8 patients were with renal failure. All patients were examine by ultrasound once more after a greater diuresis was achieved in order to differentiate from hydronephrosis.

[Parathyroid function in recurrent calcium nephrolithiasis and chronic kidney failure before and after oral calcium loading].

A case is presented of a female patient with recurrent calcium renal calculosis, chronic calculous pyelonephritis and chronic renal failure II degree to whom an oral calcium tolerance test was performed. The data of the test are characteristic for parathyroid hyperfunction. The possible cause of these changed is discussed.

[Beta 2-microglobulin in chronic exacerbated pyelonephritis].

The serum and urine beta 2-microglobulin levels were determined in patients with chronic recurrent pyelonephritis and in healthy controls. The urine beta 2-microglobulin level was considerably increased in the patients with chronic recurrent pyelonephritis which is linked with the activity of the disease.

Liver insufficiency as a factor modifying the pharmacokinetic characteristic of the preparation nabumetone.

The effectiveness of the nonsteroidal anti-inflammatory agent nabumetone is related to the formation of an active metabolite: 6-methoxy-2-naphthylacetic acid. The plasma concentrations of nabumetone and its active metabolite, after administration of 1,000 mg single dose p.o.

[Drug sensitivity of urinary microflora and the effect of treatment in exacerbated chronic pyelonephritis].

A total of 226 patients with exacerbated chronic pyelonephritis were studied and the effect of 10-day antibacterial course--followed up. In 178 cases the treatment was consistent with the drug susceptibility of urine microflora and in 48, it was carried out in the absence of such susceptibility. The susceptible strains were affected in a considerably higher percentage (64.

[Immunoglobulins in the serum of chronic pyelonephritis patients].

The authors studied the serum levels of immunoglobulins G, A and M in 72 patients with chronic pyelonephritis and 77 clinically healthy subjects. In spite of the high biological variability of the indices studied, high serum levels of IgG and IgA were established in the patients with active urologic infection and with advanced renal insufficiency. Significantly higher values of IgG were established in active pyelonephritis, caused by E.

[Multiple endocrine adenomatosis manifested chiefly by hyperparathyroidism].

A case with multiple endocrine neoplasia was reported, including parathyroid adenoma, of the main cells of the gland, multiple small adenomas in the tail of pancreas, (cytologically and electron-microscopically determined as A cellular) and light-cellular adenoma of adrenal. The hyperfunction of parathyroid adenoma was manifested with hypercalcemia (3.75 mmol/l), and morphologically--with the multiple calcium metastases in lungs, kidneys and heart, established at necropsy.

[Microbial spectrum in chronic pyelonephritis and the drug sensitivity of the microorganisms].

The authors studied the etiological spectrum of 226 patients with chronic pyelonephritis, with 926 microbic strains isolated from the urocultures. The most frequent microbic causative agents were E. coli (40,82%), Proteus (a total of 17,82%), Enterobacter (8,86%), Klebsiella (8,64%), Pseudomonas (6,16%), Enterococcus (5,94%).

[Scintigraphic study of the kidneys with a 99m Tc-ascorbic complex in chronic pyelonephritis patients].

A scintigraphic study of the kidneys was carried out in 1780 patients with chronic pyelonephritis: 1308 with calculous and 472 with acalculous pyelonephritis. The scintigraphic finding was interpreted for each kidney separately. Diffuse damages of renal parenchyma was most often observed (47,6%), being, in the majority of the cases--bilateral.

[Comparative clinical x-ray, radioisotope nephrographic and ultrasonic studies of chronic pyelonephritis patients].

The authors compare the incidence of the changes established by X-ray, radioisotope-nephrographic and ultrasound studies on 115 patients with chronic pyelonephritis. Most frequent and most characteristic are the changes with venous urography. Though not specific, the changes in the isotope-nephrogram and ultrasound contribute to the establishment of functional and structural disturbances in chronic pyelonephritis.

[Acute interstitial nephritis with iridocyclitis].

One case with acute interstitial nephritis with undistinguished etiology, accompanied by iridocyclitis is described. Recently, numerous communications about similar cases have been reported which justify the differentiation of the syndrome "interstitial nephritis-iridocyclitis" among the acute interstitial nephritis. The case is of certain interest because of some characteristics: involvement of liver in the morbid process, immunemorphological finding from that described by other authors.

[Hyperprolactinemia in chronic kidney failure patients].

The determination of the endocrine state of the patients with chronic renal insufficiency is of significance because of the endocrine sexual disorders often observed in those patients. According to literature data, hyperprolactinemia in combination with gonad dysfunction is often observed in the sera of those patients. Hyperprolactinemia was established, with the present study, in the examined 47 patients (18 females and 29 males) with chronic renal insufficiency, the normal physiological difference in prolactin level depending on sex, being eliminated in those patients.