Ceskoslovenska patologie最新文献

Iatrogenic hydrophilic polymer embolization (HPE) is an underrecognised complication of endovascular procedures. In certain instances, HPE and related complications may lead to patiens death. Incidence of this phenomenon is not known. We evaluated retrospectively all autopsies of patients with a history of endovascular intervention performed by one pathology resident during a period of 8 months. There were 10 cases, which were examined histochemically and in polarized light.  We detected HPE in 2 of the 10 cases. In both cases the involved organ were lungs. Hydrophilic polymer embolization is a potential and easy-to-miss complication of endovascular procedures. It must be considered during histological examination of autoptic material.

Giant cell myocarditis (GCM) is a rare inflammatory disease of the heart that often affects younger patients. The clinical course is typically rapid with fulminant congestive heart failure. Prognosis is poor; the proper diagnosis is often rendered at the autopsy. Herein, we present a prototypical case of this rare type of myocarditis, affecting a 44-year-old previously healthy woman who was referred to the intensive care department due to an acute onset cardiac arrest followed by resuscitation. The heart ultrasound and imaging examinations revealed a severe dysfunction and dilatation of both ventricles, without any significant finding in the coronary arteries. Twelve days after the initial presentation, the patient died due to congestive heart failure refractory to intensive therapy. The post-mortem histology of the heart revealed multiple small necrotic foci in the myocardium in both ventricles, with dense inflammatory infiltration with abundant multinucleated giant histiocytes, in line with a diagnosis of GCM. The natural history, pathophysiology, and histological differential diagnosis is discussed, together with review of the relevant literature including uncommon and emerging units.

Hereditary tumor syndromes with a possible manifestation in the female internal genital tract represent a heterogeneous group of diseases. The two most common entities are the hereditary breast and ovarian cancer syndrome, and the Lynch syndrome. The less common syndromes include the rhabdoid tumor predisposition syndrome, Cowden syndrome, tuberous sclerosis complex, DICER1 syndrome, nevoid basal cell carcinoma syndrome, Peutz-Jeghers syndrome, von Hippel-Lindau disease, and hereditary leiomyomatosis and renal cell cancer syndrome. The goal of this manuscript is to provide a comprehensive overview of those hereditary tumor syndromes which can manifest in the area of the female genital system, with an emphasis on their summary, the characteristics of the tumors which can develop in association with these syndromes, and the approach to the processing of prophylactically removed tissues and organs. The issue of Lynch syndrome screening is also discussed.

Neuromuscular diseases (NMDs) are a clinically and genetically heterogeneous group of diseases. Currently, 608 genes associated with different types of NMD have been identified. Most of these diseases are rare with a very low prevalence. Advance in the identification of genes associated with NMD can be attributed to technological development in an area of next generation sequencing (NGS) and the affordability of this methodical approach. NGS applications can be divided into analysis of (a) a selected set of genes, (b) an exom, and (c) a genome. The identification of pathogenic variants leads to a significant shift in the understanding of the etiopathogenesis of the disease, allows the prediction of the course of the disease, or its targeted treatment, which may be specific for individual types of NMD or even for particular pathogenic sequence variants.

Evaluation of tumor infiltrating lymphocytes (TIL) is gaining importance in many cancers not only because of their prognostic, but also predictive significance. One of the tumors in which the evaluation of TIL is of prognostic importance and has potential predictive impact on the modification of treatment procedures is breast cancer, especially its so-called triple negative, and HER2 positive variants.The aim of this review is to provide an overview of the issue of TIL evaluation in breast cancer, focusing not only on the clinical significance of this evaluation, but especially on the methodological aspects of evaluation and standardized reporting of the results.

The authors present results of our center retrospective study comparing autopsy findings from years 1929 (n=275) and 1989 (n=974). The male to female ratio was very similar in both cohorts (1.3:1 in 1929 and 1.4:1 in 1989). The age range in 1929 was 0-88 years with median of 50 years, whereas in 1989, the age range was 0-98 year and median was 65 years. Among lethal diseases in 1929 were namely infections and infectious complications - 61 % of all patients (out of these, 18 % were tuberculosis cases), neoplasms (12 %) and cardiovascular disorders (6.5 %). In 1989, malignant neoplasms were most frequent (31 %), followed by cardiovascular disorders (21 %) and infections (4.6 % - out of these, tuberculosis represented only 0.6 %). Our study is unique by comparing two well documented autopsy cohorts in a single center from two years being 60 years apart. The study clearly demonstrates dramatic changes in healthcare achieved during the 20th century.

In the Czech Republic, 1 500 suicides are committed in average per year approximately. Only in a small percentage has been used vehicle as a tool. Prove suicidal intent in a fatal road accident has been difficult, but mostly these accidents have similar characteristics - impact with tree or similar fixed obstacle, non - use of seat belt, absence of brake traces, etc. The aim of this paper is to present and analyse two almost identical traffic accidents - identical location, identical vehicle type. While one of these was fatal (but not proven suicide), the second accident was not fatal, but with suicidal intent. Data were obtained as a part of the Czech In-depth Study conducted by Transport Research Centre. Data from In-depth Accident Analysis provide a comprehensive view of all the factors related to a particular accident and serve to identify the characteristics leading to the crash occurrence.

Gaucher disease is an autosomal recessive disease belonging to the so-called storage diseases. More than 300 mutations of the GBA1 gene encoding the β-glucocerebrosidase enzyme are known. It is a very rare disease in the Czech Republic. Currently 35 patients are treated. In our case report, we present the case of a 16 year old female patient attending the Clinic of Pediatric Medicine at the University Hospital in Ostrava. Since 2007, the patient has suffered prolonged thrombocytopenia, at the time with progression, and splenomegaly, which has not been further investigated. Trepanobiopsy was sent to the Department of Pathology with suspicion of myelodysplastic syndrome in May of 2018. In the biopsy examination, the individual bloodline did not show dysplastic features and the number of blasts was not increased. The marrow interstitium was 70% permeated with gaucher cells with intraplasmatic fibrous material. Cells were in the appearance of „crumpled paper“ and expressed CD68 in immunohistochemical stain and in histochemical examination of PAS and iron (Fe) staining. Based on a morphological finding, Gauchers disease was suspected. Repeated bone marrow aspirates were subsequently captured by gaucher cells, and a next biochemical examination showed a β-glucocerebrosidase enzyme decrease of activity. Gaucher disease is a progressive disease that requires early diagnosis with the onset of therapy.