Prenatal detection of copy number variants in fetuses with detected congenital devolpmental disordes, from 2015 to 2020 by Multiplex Ligation-Dependent Probe Amplification and microarray analysis.

Objective: Analysis of prenatal samples from 2015 to 2020. Comparison detection rates of clinically relevant variants by cytogenetic karyotype analysis and cytogenomic MLPA (Multiplex Ligation-Depent Probe Amplification) and microarray methods (CMA - chromosomal microarray).

Material And Method: 1,029 prenatal samples were analyzed by cytogenetic karyotyping (N = 1,029), cytogenomic methods - MLPA (N = 144) and CMA (N = 111).

Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus.

Background: Presence of multiple cardiac rhabdomyomas is one of the major features of Tuberous sclerosis (TSC), but isolated progressing single giant rhabdomyoma is very rare and not typical of TSC.

Case Report: This report presents family without obvious history of TSC with occurrence of giant mediastinal rhabdomyoma affecting the haemodynamics in male foetus, without other TSC symptoms. Girl from the next gravidity had prenatally detected multiple rhabdomyomas and small subcortical tuber of brain detected after birth.

[Diagnosis of tuberous sclerosis complex focusing on prenatal period].

Unlabelled: Tuberous sclerosis is a disease with an autosomal dominant pattern of inheritance which is characterized by the development of benign tumours in many tissues and organs. Clinical signs are extremely variable, causing mutations in the gene TSC1 or TSC2. Complex formed by the products of the TSC genes regulates cell growth and proliferation by inhibition of mTORC1 signalling.

Clinical Potential of Effective Noninvasive Exclusion of KEL1-Positive Fetuses in KEL1-Negative Pregnant Women.

Background: The clinical importance of assessing the fetal KEL genotype is to exclude 'K'-positive fetuses (genotype KEL1/KEL2) in 'K'-alloimmunized pregnant women (genotype KEL2/KEL2). Noninvasive assessment of the fetal KEL genotype is not yet available in the Czech Republic.

Objective: The aim of this study was to assess the fetal KEL1/KEL2 genotype from cell-free fetal DNA in the plasma of KEL2/KEL2 pregnant women.

Incidental hepatocellular carcinoma: risk factors and long-term outcome after liver transplantation.

Background: Orthotopic liver transplantation (OLT) currently represents the treatment of choice for early hepatocellular carcinoma (HCC). Preoperatively known HCC (pkHCC) is diagnosed via imaging methods before OLT or before HCC is found postoperatively in the liver explant, denoted as incidental HCC (iHCC). The aim of this study was a comprehensive analysis of the post-transplantation survival of patients with iHCC and the identification of risk factors of iHCC occurrence in cirrhotic liver.

[RHD genotyping from cell-free fetal DNA circulating in pregnant women peripheral blood and sensitivity assessment of innovated diagnostic approaches for introduction into the clinical practice].

Objective: Introduction of fetal RHD genotyping from cell-free fetal DNA circulating in the peripheral blood of pregnant women to clinical practice. Sensitivity assessment of innovated method using range of dilution series and internal control of amplification.

Design: Procedure creating of noninvasive determination of fetal RHD genotyping from blood plasma of pregnant women.

Giant angiofibromas in tuberous sclerosis complex: a possible role for localized lymphedema in their pathogenesis.

Background: Giant angiofibromas in patients with tuberous sclerosis complex (TSC) are rare.

Objective: We sought to report two patients who had TSC with unusually large and disfiguring facial angiofibromas and to identify underlying histopathologic changes that may possibly explain the clinical features.

Methods: We performed a clinicopathologic, immunohistochemical, and molecular biologic study using 42 lesional specimens and peripheral blood from one of the two patients.

Pancreas divisum does not modify the natural course of chronic pancreatitis.

Background: Pancreas divisum is the most common congenital variant of the pancreas; however, its clinical significance remains controversial. The purpose of our study was to determine the role of pancreas divisum in the development of chronic pancreatitis.

Methods: We compared the clinical presentation, morphological findings, and course of disease of 30 patients with chronic pancreatitis associated with pancreas divisum (there was coexisting chronic alcohol abuse in 18 cases) to those of 57 patients with chronic pancreatitis and no evidence of pancreas divisum (15 with nonalcoholic pancreatitis and 42 with alcoholic pancreatitis).

[Surgical treatment of liver metastases of non-colorectal tumors].

Introduction: Surgical resection is the only potentially curative treatment for metastatic cancer to the liver. Therapeutic guidelines for treatment of colorectal liver metastases are well defined, but it remains difficult to establish therapeutic guidelines for heterogeneous group of noncolorectal liver metastases.

Methods: 20 patients with liver metastases of different origin were preoperatively indicated for multimodal therapy and were operated between 1998-2002 at our department.

Liver transplantation in Eastern Europe.

The aim of this report is to evaluate the development of liver transplantation in eastern Europe until mid-1998. Representatives of gastroenterological and hepatological societies of the respective countries answered a questionnaire about the most descriptive items of the issue of liver transplantation. The Baltic countries, together with 6 southern Balkan countries, Moldovia, and Belarus, have not developed a program of liver transplantation.

Qualitative analysis of green coffee by infrared spectrometry.

Principal component analysis and linear discriminant analysis (LDA) were applied to the mid-infrared spectra for the qualitative analysis of the variety of green coffee (Arabica and Robusta). It is shown that the KBr pellet technique in combination with the LDA method can successfully be used for the identification of sample origin.

Superior mesenteric artery syndrome following abdominal aortic aneurysm resection and replacement.

The case is reported of a 75-year-old female patient developing, on the 15th day after partial resection of an abdominal aortic aneurysm and replacement with vascular prosthesis, acute syndrome of aortomesenteric occlusion of the duodenum. The condition was caused by postoperative haemorrhage into the space framed by the aortic prosthetic replacement and its wrapping with the remnants of the aneurysmal sac. Acute ileus arising subsequently was controlled by posterior gastroenterostomy and Braun's entero-enterostomy between the afferent and efferent loops.