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An unusual case of fetal polycystic kidney disease is reported. Oligohydramnios and enlarged hyperechogenic kidneys were found at 21 weeks. The pregnancy was terminated and fetal autopsy performed. The histopathological pattern of fetal kidneys was consistent with glomerulocystic disease and this raised suspicion of autosomal dominant polycystic kidney disease (ADPKD). Initially, the family history seemed to be negative for ADPKD. The mother's diagnosis was established only after the abortion of the affected fetus. She had no symptoms of renal disease. Multigenerational involvement was revealed on the mother@s side. Mechanisms leading to prenatal ADPKD and prognosis of the pediatric patients are discussed.

Objective: The aim of the present work was to evaluate the results of quantitative determination of liver iron and copper content using atomic absorption spectrometry on liver tissue specimens obtained by percutaneous liver biopsy. Patients: A cohort of 83 patients was divided into 4 groups according to histological findings: group I (normal histological picture; n = 27), group II (chronic hepatitis; n = 33), group III (cirrhosis; n = 10), group IV (hemochromatosis; n = 10), and 3 cases of Wilson disease. Results: As expected, in group IV (hemochromatosis) we detected a significantly increased iron content in the liver tissue (3.73 ± 1.93 mg/g) and concentration of ferritin in the serum (966 ± 560 μg/L); (p < 0.001), along with an increased value of transferrin saturation (0.66 ± 0.20); (p < 0.05) versus group I. A statistically significant Pearson linear correlation was seen between the liver iron and ferritin concentration (r = 0.6573; p < 0.001) and between liver iron and transferrin saturation (r = 0.6878; p < 0.001). The liver copper content in groups I, II and IV did not differ significantly. The group of patients with liver cirrhosis (group III) showed significantly increased values of liver copper (247 ± 161 μg/g) as well as serum copper (24.8 ± 7.2 μmol/L) versus values in group I (52.5 ± 29.4 μg/g and 16.1 ± 5.0 μmol/L) respectively, (p < 0.001). In connection with the finding of increased copper content in group III (cirrhosis), we also observed significantly elevated alkaline phosphatase activity (p < 0.05). Conclusions: Out of the iron metabolism serum parameters which show a correlation with liver iron, the highest suitability is exhibited by ferritin and transferrin saturation. The indication for liver tissue copper content determination is an unequivocal part of the diagnostics of Wilson disease. This procedure cannot be replaced by the histochemical proof of copper in a bioptic specimen of liver tissue. However, copper values of around 250 μg/g of dry liver tissue have to be evaluated carefully, and other possible causes have to be taken into consideration.

Objective: Presentation of three cases of primary sebaceous carcinoma of the breast particularly focusing on the clinical, biological and molecular genetic aspects regarding their possible pathogenetic relationship to the Muir-Torre and Lynch syndrome. Reviewed are basic principles of miscosatellite instability and dysregulations of mismatch repair genes by these inherited tumorous syndromes especially looking for morphologic and fenotypic parallels between sebaceous carcinomas of the breast and their cutaneous counterparts. Design: Three casuistic reports. Setting: Biopsy Lab s.r.o. and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen. Methods: Three casuistic reports are covered in detail including broad immunohistochemistry (LSAB+, Dako). Results: In three women aged 51 to 69 was diagnosed primary sebaceous carcinoma of the breast with maximum dimension ranged from 13 to 41 mm. Lumpectomy was performed at the smallest one and included sentinel lymph node examination turned out to be negative. The other two patients underwent modified mastectomy with axillary lymph node dissection. In tumor sized 25mm, macrometastasis 4mm in maximum dimension was identified in one axillary lymph node. Follow-up available in two women, both without regional metastasis, revealed no local or distant progression of the disease. The histology consisted of conventional G1-2 invasive duct carcinoma in all cases and sebaceous differentiation represented 10-40% of all neoplastic population. The patognomic features included cells with ample eosinophilic/clear foamy cytoplasm, partly with multiple crowded small vacuoles characteristically impressing the nuclei. All tumors were ER positive and Her2/neu 2+ lesion was not amplified. Strong diffuse nuclear expression of MLHl, PMS2, MSH2, MSH6 proteins in all cases confirmed unaltered mismatch repair genes pathway. Familial tumorous stigmas were not evident and subsequent close clinical monitoring in two of the patients tracked down no intern malignancy, including cutaneous sebaceous lesion.

To determine new data related to the expression of caspase 1, superoxiddismutase and calretinin in the placenta and basal decidua in preeclampsia. Placental and basal decidua samples from 9 preeclamptic and 9 normotensive controls were analyzed using expressions of caspase 1, superoxiddismutase and calretinin assessed by immunohistochemistry. Caspase 1 was expressed in placental syncythium in preeclampsia constantly, while in the control group the expression was weak or absent. In Langhans cells, in fetal sinusoidal capillary endothelia and in Hofbauer cells the expression was equal in both groups. Stronger expression was observed in stromal myofibroblasts in preeclampsia. In preeclampsia, expression of superoxiddismutase in syncythium, in Langhans cells and in decidual cells was weaker. Calretinin was not found in any placental structure. Sporadically, calretinin was expressed in the interstitial extravillous trophoblast cells, in decidual cells and in spiral arterioles in preeclampsia. The obtained morphological data correlating with some clinical and biochemical features contribute to understanding of the molecular background of preeclampsia etiopathogenesis.

Duskova J.,Ustav Patologie | Bekova A.,R.O.S.A. | Dvorak V.,Centrum Ambulantnigynekologie a Primarni Pece | Majek O.,Institute Biostatistiky A Analyz | Dusek L.,Institute Biostatistiky A Analyz
Klinicka Onkologie | Year: 2014

The nationwide Cervical Cancer Screening Programme in the Czech Republic was introduced in 2009. The aim of this article is to describe the results of this programme in the first few years after its transformation into a fully-fledged, organised programme. Material and Methods: During the first few years, a network of 37 accredited laboratories was stabilised, ensuring that examinations would be readily available across the Czech Republic. Although all women aged between 25 and 70 years fall within the target group of the current personalised invitation programme, women not in this age group are reimbursed for preventive screening examinations as well. The programme is equipped with an information support provided by the Institute of Biostatistics and Analyses of the Masaryk University, which runs the Cervical Cancer Screening Registry. Results: Cervical cancer incidence and mortality rates in the Czech Republic have seen a significant decrease over the last decade. By the end of 2013, more than 11 million examinations were reported to the registry by the accredited laboratories, and more than 15,000 serious cervical lesions were detected. Analysis of the data from the registry makes it possible to monitor the quality of individual laboratories and the effectiveness of the entire programme. Conclusion:The promising start of the programme provides a strong argument for its continuation. The programme has the potential to decrease cervical cancer incidence rates in the Czech Republic to values comparable with those reported by countries with advanced health care systems.

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