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Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and erythematous scaly plaques predominantly in intertriginous regions. HHD is caused by ATP2C1mutations. About 180 distinct mutations have been identified so far; however, data of only few cases from Central Europe are available. The aim was to analyze the ATP2C1gene in a cohort of Polish HHD patients. A group of 18 patients was enrolled in the study based on specific clinical symptoms. Mutations were detected using Sanger or next generation sequencing. In silico analysis was performed by prediction algorisms and dynamic structural modeling. In two cases, mRNA analysis was performed to confirm aberrant splicing. We detected 13 different mutations, including 8 novel, 2 recurrent (p.Gly850Ter and c.325-3 T > G), and 6 sporadic (c.423-1G > T, c.899 + 1G > A, p.Leu539Pro, p.Thr808TyrfsTer16, p.Gln855Arg and a complex allele: c.[1610C > G;1741 + 3A > G]). In silico analysis shows that all novel missense variants are pathogenic or likely pathogenic. We confirmed pathogenic status for two novel variants c.325-3 T > G and c.[1610C > G;1741 + 3A > G] by mRNA analysis. Our results broaden the knowledge about genetic heterogeneity in Central European patients with ATP2C1mutations and also give further evidence that careful and multifactorial evaluation of variant pathogenicity status is essential.

Probiotic bacteria, including Bifidobacterium are used for animal feeding in many countries. Colon-settled bifidobacteria were found to produce acetic and lactic acids which lower the pH of the environment, therefore inhibiting the growth of many undesirable bacteria. Low pH also favors the absorption of fat, fat-soluble vitamins, and minerals as well as inhibits the absorption of ammonia and amines by the intestine wall. Antagonistic activity of bifidobacteria against many microorganisms also results, to some degree, from the synthesis of lysozyme-like inhibitors. Biological material was anus swabs from 5 piglets, aged 3 d to 2 wk. Bifidobacterium rods were isolated on a MRS-Agar medium with the addition of a NNL solution as selective factor. Inoculations were incubated anaerobically at 37 [degrees] C for 72 h. Bifidobacteria were identified using Rapid ID 32A tests from bioMerieux, Warsaw. Antibacterial activity of identified Bifidobacterium rods was evaluated against enterotoxic strain of Escherichia coli EC 08, and food-isolated rods of Klebsiella pneumonie 499 and Enterobacter cloace 17. The studies were carried out using well method and agar medium. Sixteen strains were isolated from the material, including Bifidobacterium breve (4 strains), Bifidobacterium pseudocatenulatum (3 strains), Bifidobacterium adolescentis and Bifidobacterium animalis (each 1 strain). Studies on antibacterial activity against Enterobacteriaceae showed that all strains of the Bifidobacterium inhibited the growth of the examined Gram-negative bacteria. The isolated Bifidobacterium strains had strong, antibacterial activity against the examined Enterobacteriaceae rods. They may be therefore considered for use as probiotics in feeding piglets, among others.

Eighteen patients with symptoms of active acromegaly were treated with somatostatin analogues for 4 weeks before surgery. Both before and after the treatment, levels of growth hormone (GH), prolactin (PRL), insulin growth factor -I (IGF-I), luteotropin (LH), folliculostimulin (FSH) and subunit a of glycoprotein hormones were estimated. Glucose tolerance test, magnetic resonance imaging (MRI) examination, sight acuity and field of vision tests were also performed. The same tests were performed on ten control patients with clinically and biochemically active acromegaly, subjected to surgery but not treated with somatostatin analogues. In six patients treated with somatostatin analogues GH levels decreased significantly to less than 5 ng/ml and in two patients remained elevated while in 10 patients GH level decreased and ranged from 6.1 to 42.9 ng/ml. In 13 patients we observed a decrease in IGF-I to normal levels (<400 ng/dl) and in 3 patients we noted a decrease to levels slightly higher than normal. There was also a slight decrease in a subunit concentration. In the glucose inhibition test 4 patients demonstrated normalized GH levels. In patients with elevated PRL and TSH levels, treatment with somatostatin analogues induced their decrease. No changes were observed in levels of LH and FSH. After therapy MRI examination disclosed a decrease in tumor volume in two patients (by 20 and 25%, respectively) and no changes in tumor size in 16 patients. The two patients with a decreased tumor volume also showed normalized glucose tolerance tests. All patients manifested an improved clinical condition. Neurosurgeons disclosed a decreased tumor consistency which greatly facilitated surgical procedure. Our studies documented favourable effects of somatostatin analogues on the assayed hormone levels, and on the general condition of the patients as well as on the course of the surgical procedure itself.

The aim of our study was to evaluate the size and function of the thyroid in patients with acromegaly. In 39 patients concentrations of HGH, PRL, TSH, T3and T4were measured and the thyroid volume was calculated with the using of ultrasound examination. The control group comprised 5 patients with acromegaly in a stage of remission and 98 controls. We concluded that the size of the goiter in patients with acromegaly depends on serum concentration of HGH, but it does not depend on the concentration of TSH, T3, T4and PRL. Goiter is present in 87% of patients with acromegaly, 46% of them are nodular goiters. The thyroid function in acromegaly is normal.