A recurrent synonymous L1CAM variant in a fetus with hydrocephalus.

We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant.

Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.

Background: X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small insertions/deletions in AVPR2 are reliably detected by routine clinical sequencing. Nevertheless, structural variants involving AVPR2 are challenging to identify accurately by conventional genetic testing.

Cerebral Performance Category score in patients after out-of-hospital cardiac arrest.

Objective: Reporting epidemiological data on prehospital cardiac arrest in the Pilsen Region in 2022. Expression of cardiopulmonary resuscitation success using the Cerebral Performance Category (CPC) score.

Materials And Methods: The study looked at the survival rate of out-of-hospital sudden cardiac arrest in all patients in whom emergency medical services performed cardiopulmonary resuscitation (CPR).

Faecal Bacteriome and Metabolome Profiles Associated with Decreased Mucosal Inflammatory Activity Upon Anti-TNF Therapy in Paediatric Crohn's Disease.

Background And Aims: Treatment with anti-tumour necrosis factor α antibodies [anti-TNF] changes the dysbiotic faecal bacteriome in Crohn's disease [CD]. However, it is not known whether these changes are due to decreasing mucosal inflammatory activity or whether similar bacteriome reactions might be observed in gut-healthy subjects. Therefore, we explored changes in the faecal bacteriome and metabolome upon anti-TNF administration [and therapeutic response] in children with CD and contrasted those to anti-TNF-treated children with juvenile idiopathic arthritis [JIA].

Germline multigene panel testing of patients with endometrial cancer.

Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study, germline genetic testing (GGT) was performed in 527 patients with EC using a next generation sequencing panel targeting 226 genes, including 5 Lynch syndrome (LS) and 14 hereditary breast and ovarian cancer (HBOC) predisposition genes, and 207 candidate predisposition genes.

Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress.

Diamond-Blackfan anemia (DBA) is predominantly underlined by mutations in genes encoding ribosomal proteins (RP); however, its etiology remains unexplained in approximately 25 % of patients. We previously reported a novel heterozygous RPS7 mutation hg38 chr2:g.3,580,153G > T p.

Polatuzumab vedotin plus bendamustine and rituximab in patients with relapsed/refractory diffuse large B-cell lymphoma in the real world.

Objectives: Polatuzumab vedotin with bendamustine and rituximab (Pola-BR) was approved for treatment of transplant-ineligible patients with relapsed/refractory DLBCL (R/R DLBCL). However, the number of patients treated in the GO29365 trial including the extension cohort was limited, and more data evaluating the efficacy of this treatment regimen is needed.

Methods: We analyzed 21 patients with R/R DLBCL to determine real-life efficacy and safety of Pola-BR regimen.

Blood urea nitrogen - independent marker of mortality in sepsis.

Background: This retrospective study examines the relationship between admission Blood Urea Nitrogen (BUN) levels and clinical outcomes in patients with sepsis from two separate cohorts in the Czech Republic and the United States.

Methods: The study included 9126 patients with sepsis between January 2014 and December 2018. Kaplan-Meier survival curves and Cox regression were used to analyse the data.

Urachal yolk sac tumor penetrating the bladder as a diagnostic challenge: a case report and review of the literature.

Background: Yolk sac tumor (YST) is a germ cell tumor. It is primarily located in the gonads but can also occur extragonadally (extragonadal yolk sac tumor - EGYST), most commonly in the pelvis, retroperitoneum or mediastinum. Only a few YSTs of the urachus have been described.

rs2076295 variants influence nintedanib and pirfenidone outcomes in idiopathic pulmonary fibrosis: a pilot study.

Background: The antifibrotic drugs nintedanib and pirfenidone are used for the treatment of idiopathic pulmonary fibrosis (IPF). We analysed the association of common profibrotic polymorphisms in (mucin 5B, rs35705950) and (desmoplakin, rs2076295) on antifibrotic treatment outcomes in IPF.

Methods: rs35705950 and rs2076295 were assessed in IPF patients ( = 210, 139 men/71 women) from the Czech EMPIRE registry and age- or sex-matched healthy individuals ( = 205, 125 men/80 women).

Caution, "normal" BMI: health risks associated with potentially masked individual underweight-EPMA Position Paper 2021.

An increasing interest in a healthy lifestyle raises questions about optimal body weight. Evidently, it should be clearly discriminated between the standardised "normal" body weight and individually optimal weight. To this end, the basic principle of personalised medicine "one size does not fit all" has to be applied.

Out-of-hospital cardiac arrest in the Pilsen Region in 2018.

Aims: To acquire epidemiological data on pre-hospital cardiac arrest incidents occurring in the Pilsen Region of the Czech Republic in 2018, and the results of subsequent cardiopulmonary resuscitation Methods. A prospective observational study of the survival rate of out-of-hospital cardiac arrest (OHCA) in patients undergoing CPR carried out by emergency medical service personnel. The observed time period was from January 1, 2018 until December 31, 2018.

Low-grade oncocytic tumour of kidney (CD117-negative, cytokeratin 7-positive): a distinct entity?

Aim: To describe a group of distinct low-grade oncocytic renal tumours that demonstrate CD117 negative/cytokeratin (CK) 7-positive immunoprofile.

Methods And Results: We identified 28 such tumours from four large renal tumour archives. We performed immunohistochemistry for: CK7, CD117, PAX8, CD10, AMACR, e-cadherin, CK20, CA9, AE1/AE3, vimentin, BerEP4, MOC31, CK5/6, p63, HMB45, melan A, CD15 and FH.

CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID.

Common variable immunodeficiency disorder (CVID) is one of the most frequent inborn errors of immunity, increased occurrence of malignancies, particularly lymphomas, and gastric cancers, has long been noted among CVID patients. Multifactorial etiology, including immune dysregulation, infections, chronic inflammation, or genetic background, is suggested to contribute to tumor development. Here, we present the results of the first Czech nationwide study focused on epidemiology, immunology and genetic background in a cohort of CVID patients who also developed tumors The cohort consisted of 295 CVID patients followed for 3,070 patient/years.

New and emerging renal entities: a perspective post-WHO 2016 classification.

Renal tumours include a heterogeneous and diverse spectrum of neoplasms. Recent advances in this field have significantly improved our understanding of the morphological, immunohistochemical, molecular, epidemiological and clinical characteristics of renal tumours, which led to the new Vancouver classification of renal neoplasia and the new World Health Organization (WHO) classification of renal cell tumours. This review aims to summarise the new information and evidence on several new and emerging/provisional renal entities, which were mostly generated after the recent classification of renal neoplasia.

The incidence of biopsy-proven transformation in follicular lymphoma in the rituximab era. A retrospective analysis from the Czech Lymphoma Study Group (CLSG) database.

The aim of this study is to assess the incidence, risk factors, and outcome of biopsy-proven transformation in follicular lymphoma (FL) patients in the rituximab era. Transformation was analyzed in 1233 patients with initially diagnosed FL grades 1-3A, identified between 2002 and 2012 in the prospectively maintained Czech Lymphoma Study Group database. Only patients with histologically proven transformation (HT) were included.

Impact of rituximab maintenance and maintenance schedule on prognosis in first-line treatment of follicular lymphoma. Retrospective analysis from Czech Lymphoma Study Group (CLSG) database.

Rituximab maintenance (RM) improves time to progression (PFS) in advanced follicular lymphoma (FL), but the impact of various RM schedules remains unknown. This study performed a retrospective evaluation of RM given for up to 2 years vs observation in 319 untreated FL patients (stage II-IV; grade 1-3A) responding to RCHOP induction and a comparison of two different RM schedules (RM8=eight doses given every 3 months and RM12=12 doses given every 2 months). A total of 183 patients received RM and 136 patients were observed; 5-year PFS was better in the RM arm, 74.

Radiotherapy with rituximab may be better than radiotherapy alone in first-line treatment of early-stage follicular lymphoma: is it time to change the standard strategy?

Early-stage follicular lymphoma (FL) has traditionally been treated with involved-field radiotherapy (RT). Rituximab (R) is a low-toxic, efficient systemic therapy for FL, but there are no data about its clinical impact in early FL. We retrospectively analyzed 93 patients with stage I-II indolent FL treated with RT (n=65) or RT+R (n=14) or R alone (n=14).

Quantitative evaluation of the performance of a new test bolus-based computed tomographic angiography contrast-enhancement-prediction algorithm.

Objectives: The objective of this study was to assess the robustness of a novel test bolus (TB)-based computed tomographic angiography (CTA) contrast-enhancement-prediction (CEP) algorithm by retrospectively quantifying the systematic and random errors between the predicted and true enhancements.

Materials And Methods: All local institutional review boards approved this retrospective study, in which a total of 72 (3 × 24) anonymized cardiac CTA examinations were collected from 3 hospitals. All patients (46 men; median age, 62 years [range, 31-81 years]) underwent a TB scan and a cardiac CTA according to local scan and injection protocols.

[The impact of total abdominal and laparoscopically assisted vaginal hysterectomy on the development of urine incontinence].

Objective: Evaluation of mutual relationship between different types of hysterectomy and urine incontinence.

Design: Retrospective comparative questionnaire study.

Setting: Department of Gynaecology and Obstetrics, Charles University and University Hospital Pilsen.