A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.

The CYCS gene is highly evolutionarily conserved, with only a few pathogenic variants that cause thrombocytopenia-4 (THC4). Here, we report a novel CYCS variant NM_018947.6: c.

CD20 expression regulates CD37 levels in B-cell lymphoma - implications for immunotherapies.

Rituximab (RTX) plus chemotherapy (R-CHOP) applied as a first-line therapy for lymphoma leads to a relapse in approximately 40% of the patients. Therefore, novel approaches to treat aggressive lymphomas are being intensively investigated. Several RTX-resistant (RR) cell lines have been established as surrogate models to study resistance to R-CHOP.

BRAF mutation, selected miRNAs and genes expression in primary papillary thyroid carcinomas and local lymph node metastases.

Mutations in cancer-related genes are now known to be accompanied by epigenetic events in carcinogenesis by modification of the regulatory pathways and expression of genes involved in the pathobiology. Such cancer-related mutations, miRNAs and gene expression may be promising molecular markers of the most common papillary thyroid carcinoma (PTC). However, there are limited data on their relationships.

Primary Squamous Cell Carcinoma of the Parotid Gland: Study and Review of the Literature.

Background/aim: Primary squamous cell carcinoma of the parotid gland (pPSCC) is a rare tumor, accounting for less than 3% of all parotid carcinomas. There is no general consensus on the management of this tumor, since clinical experience for pPSCC is minimal. Moreover, pPSCC is often misdiagnosed for metastatic cutaneous carcinoma.

Comparison of narrow-band imaging with autofluorescence imaging for endoscopic detection of squamous cell carcinoma of the tonsil.

Purpose: Early detection of mucosal neoplastic lesions is crucial for a patient's prognosis. This has led to the development of effective optical endoscopic diagnostic methods such as narrow band imaging (NBI) and autofluorescence (AFI). Independent of each other, both of these methods were proven useful in the detection of mucosal neoplasias.

Utility of fine-needle aspiration biopsy (FNAB) in parotid pleomorphic adenoma diagnosis and management.

Purpose: Pleomorphic adenoma (PA), the most common benign tumour of the parotid gland, requires accurate preoperative diagnosis owing to its capacity for malignant transformation. The aim of this study was to evaluate our experience with ultrasound-guided fine-needle aspiration biopsy (FNAB) in the diagnostic algorithm for patients with PA and to assess clinical outcomes for those with different surgical approaches.

Material And Methods: We carried out a retrospective analysis of patients treated for parotid gland mass between 2010 and 2016.

Hypermethylation of CD19 promoter enables antigen-negative escape to CART-19 in vivo and in vitro.

Background: Anti-CD19 chimeric antigen receptor T cells (CART-19) frequently induce remissions in hemato-oncological patients with recurred and/or refractory B-cell tumors. However, malignant cells sometimes escape the immunotherapeutic targeting by gene mutations, alternative splicing or lineage switch, commonly causing lack of CD19 expression on the surface of neoplastic cells. We assumed that, in addition to the known mechanisms, other means could act on CD19 to drive antigen-negative relapse.

Experience with follow-up strategy in selected patients with Warthin tumour diagnosed by ultrasound-guided fine-needle aspiration biopsy (FNAB).

Purpose: Warthin tumour (WT) management options comprise surgery or follow-up. The purpose of this study was to asses our experience with the follow-up strategy in selected patients with an ultrasound-guided fine-needle aspiration biopsy (FNAB) showing WT.

Methods: We performed a retrospective analysis of patients diagnosed with WT using FNAB between 1.

Multifunctional Roles of miR-34a in Cancer: A Review with the Emphasis on Head and Neck Squamous Cell Carcinoma and Thyroid Cancer with Clinical Implications.

MiR-34a belongs to the class of small non-coding regulatory RNAs and functions as a tumor suppressor. Under physiological conditions, miR-34a has an inhibitory effect on all processes related to cell proliferation by targeting many proto-oncogenes and silencing them on the post-transcriptional level. However, deregulation of miR-34a was shown to play important roles in tumorigenesis and processes associated with cancer progression, such as tumor-associated epithelial-mesenchymal transition, invasion, and metastasis.

The role of fine-needle aspiration biopsy (FNAB) in the diagnostic management of parotid gland masses with emphasis on potential pitfalls.

Purpose: The treatment strategy of parotid gland tumours depends mainly on the histopathological type of the lesion. Fine-needle aspiration biopsy (FNAB) is recommended in preoperative diagnostics. The aim of the study was to evaluate the FNAB standing in the diagnostic algorithm of parotid gland lesions and to correlate FNAB results in relation to the definitive histopathological diagnosis.

The role of fine-needle aspiration biopsy (FNAB) in Warthin tumour diagnosis and management.

Purpose: Warthin tumour (WT) is the second most common benign tumour of the parotid gland. The aim of this study was to assess the value of the FNAB in the diagnosis and treatment decision in patients with WT.

Materials And Methods: We performed a retrospective study of patients treated for parotid gland mass between 2006 and 2016.

Delayed-Type Hypersensitivity to Metals of Environmental Burden in Patients with Takotsubo Syndrome - Is There a Clinical Relevance?

Objective: Takotsubo syndrome (TS) is a heart condition characterised by a sudden transient left ventricular dysfunction; its pathophysiology is probably associated with elevated levels of catecholamines but the exact mechanism is not known as yet. Literature and clinical experience suggest that TS affects persons with various comorbidities. This pilot work aims to evaluate the frequency of comorbidities with potential pathological immune reactivity, and to evaluate the potential association between TS and hypersensitivity to metals assessed by LTT-MELISA®.

Infectious Complications and Immune/Inflammatory Response in Cardiogenic Shock Patients: A Prospective Observational Study.

Introduction: Patients with cardiogenic shock (CS) are at a high risk of developing infectious complications; however, their early detection is difficult, mainly due to a frequently occurring noninfectious inflammatory response, which accompanies an extensive myocardial infarction (MI) or a postcardiac arrest syndrome. The goal of our prospective study was to describe infectious complications in CS and the immune/inflammatory response based on a serial measurement of several blood-based inflammatory biomarkers.

Methods: Eighty patients with CS were evaluated and their infections were monitored.

Self-stigma in psychiatric patients--standardization of the ISMI scale.

Objective: Self-stigma in psychiatric patients is an issue deserving both research and therapeutic attention. The objective of the present study was to evaluate the psychometric properties of a Czech version of the Internalized Stigma of Mental Illness (ISMI) scale assessing the levels of self-stigma in individuals with mental disorders.

Methods: It consists of 29 items classified into 5 subscales, namely alienation, stereotype endorsement, perceived discrimination, social withdrawal and stigma resistance.

[S-100B protein elevation in patients with the acute coronary syndrome after resuscitation is a predictor of adverse neurological prognosis].

Introduction: The annual incidence of out-of-hospital cardiac arrest is around 90-190 cases per 100 000 inhabitants. The limiting factor for further prognosis of patients after out-of-hospital arrest is their neurological status. The S100B protein is mainly the nervous system cells product, its glial-specific and mostly expressed by astrocytes.

Rapid detection and differentiation of the exfoliative toxin A-producing Staphylococcus aureus strains based on phiETA prophage polymorphisms.

The exfoliative toxin A (ETA) is encoded by the gene located on Staphylococcus aureus prophages. We have developed a single-reaction multiplex polymerase chain reaction (PCR) assay for rapid and specific detection of various phiETA prophages of serogroup B responsible for dissemination of eta gene and ETA production in clinical strains. This PCR strategy enabled to classify the ETA-positive strains into 6 groups designated ETA-B1, ETA-B2, ETA-B3, ETA-B4, ETA-B5, and ETA-B6.

[Coronary artery disease with premature manifestation in young patients].

Introduction: Coronary artery disease (CAD) affects in lower percentage even younger individuals. This paper describes group of young patients aged 40 years or less with premature manifestation of CAD, including analysis of risk factors, severity of coronary arteries affection, management and follow-up lasting up to 7 years.

Patients And Methods: There were 98 patients included retrospectively, in whom macroscopic affection of coronary arteries was diagnosed by coronary angiography within the years 2000-2007.

[Repolarization homogeneity in patients after acute myocardial infarction assessed from long-term 12-lead electrocardiographic recordings].

Background: Abnormal heterogeneity of myocardial electrophysiologic processes increases the risk of malignant arrhythmias. The aim of the studywas to assess changes ofrepolarization homogeneity in patients after acute myocardial infarction (MI) using morphological parameters obtained from long-term 12-lead electrocardiographic recordings.

Methods: In the group of 200 patients (45 females, 155 males) a long-term (10 minutes supine) 12-lead electrocardiographic recording (SEER MC, GE Medical) was performed 48-72 hours after acute myocardial infarction.

[QT dynamicity in risk stratification in patients after myocardial infarction].

Background: Ventricular repolarization abnormalities are associated with increased risk of sudden cardiac death in patients after myocardial infarction. The aim of this study is to assess QT dynamicity - QT/RR relationship - in patients after myocardial infarction and its contribution to risk stratification of sudden cardiac death.

Methods: In a group of patients with diagnosis of acute myocardial infarction a long term ECG recording was performed 48-72 hours after myocardial infarction (MARS Unity Workstation, GE Medical Information Technologies).

Antioxidant micronutrients and childhood malignancy during oncological treatment.

Serum antioxidant vitamins A (retinol) and E (alpha-tocopherol), beta-carotene, zinc, and selenium, and cholesterol and related proteins for 170 children with newly diagnosed malignancy were measured at diagnosis and 6 months after initiation of treatment, and compared with those of 632 cancer-free controls. Incident cancer cases and controls were 1-16 years old and recruited between 1986 and 1989. At diagnosis, age- and sex-adjusted serum concentrations of retinol, beta-carotene, zinc, and alpha-tocopherol were significantly inversely associated with cancer.

Assessment of serum antioxidant micronutrients and biochemical indicators of nutritional status in children with cancer in search of prognostic factors.

Serum vitamins A (retinol) and E (alpha-tocopherol), beta-carotene, zinc and selenium, and related proteins for 157 children with newly diagnosed and histologically proven malignancy were compared with those of 632 cancer-free controls. Incident cancer cases and controls were 1-16 years of age and recruited in 1986-1989. Age and sex-adjusted serum concentrations of beta-carotene and alpha-tocopherol were significantly inversely associated with cancer.

Serum beta-carotene and antioxidant micronutrients in children with cancer. The 'Cancer in Children and Antioxidant Micronutrients' French Study Group.

Serum antioxidant vitamins A (retinol) and E (alpha-tocopherol), beta-carotene, zinc and selenium for 418 children with newly diagnosed malignancy were compared with those of 632 cancer-free controls. Incident cancer cases and controls were 1-16 years old and recruited in 1986-1989. Age- and sex-adjusted serum concentrations of retinol, beta-carotene and alpha-tocopherol were significantly inversely associated with cancer.

Serum retinol, beta-carotene, alpha-tocopherol and cholesterol in healthy French children.

Age- and sex-specific reference intervals of data derived from a healthy paediatric population are presented for retinol, beta-carotene, alpha-tocopherol, cholesterol and related proteins in serum. Age was an important covariate for the micronutrient concentration values. Retinol was highly correlated with alpha-tocopherol and cholesterol.

Immunonephelometry and radial immunodiffusion compared for measuring serum retinol-binding protein.

We compared a nephelometric method and a radial immunodiffusion (RID) assay for the measurement of retinol-binding protein in samples of serum from children with malignancies. The mean (+/- standard deviation) retinol-binding protein concentration as measured by the Behring Nephelometer was 31.0 +/- 15.