8 results match your criteria: "Charles University in Prague and Faculty Hospital Motol[Affiliation]"

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Am J Hum Genet

February 2022

Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France. Electronic address:

Article Synopsis
  • Nuclear deubiquitinase BAP1 is a crucial part of protein complexes that help regulate gene transcription by reversing the ubiquitination of histone 2A, and its loss can lead to cancer.
  • This study identified 11 rare, de novo germline BAP1 variants associated with a unique neurodevelopmental disorder, where most of these variants demonstrated a loss-of-function effect.
  • Functional analyses showed these variants impaired histone modifications, leading to significant changes in chromatin states and contributing to dysregulation of genes essential for development.
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Background: The diffusion gradient between ionized calcium (iCa) in the inlet dialysate and blood is considered to be the main driving force of calcium mass balance (CMB). The intradialytic change of parathyroid hormone (PTH) level corresponds to the change in plasma iCa. In contrast to the widely discussed calcium concentration of dialysis solution, the dialysate pH and bicarbonate concentration (DHCO), important factors affecting the level of iCa, have not been studied with respect to the intradialytic change of plasma PTH level (ΔPTH) and CMB.

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Congenital bronchopulmonary malformation: CT histopathological correlation.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

December 2016

Department of Paediatric Surgery, 2nd Faculty of Medicine, Charles University in Prague and Faculty Hospital Motol, Prague, Czech Republic.

Background: This study evaluated the accuracy of postnatal computed tomography (CT) imaging in the identification of congenital bronchopulmonary malformation (BPM) in comparison with histopathological analysis.

Methods: CT scans of prenatally diagnosed BPMs from 24 patients with available histology were analysed retrospectively. The CT images were reviewed blinded to histological findings by two radiologists.

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Lung cancer, pulmonary emphysema and pleural effusion: An autopsy study.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

December 2015

Department of Pneumology, 2nd Faculty of Medicine, Charles University in Prague and Faculty Hospital Motol, Prague, Czech Republic.

Objectives: To determine the exact incidence of lung cancer, pulmonary emphysema and pleural effusion we decided to carry out an autopsy study.

Methods: In this autopsy study carried out over two years, we compared the results of autopsy findings with the clinical data in accompanying records of the deceased.

Results: Among the 708 deceased subjects, there were 398 males and 310 females with a median age of 71 years.

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A prospective study in the evaluation of quality of life after vulvar cancer surgery.

Int J Gynecol Cancer

January 2015

*Department of Obstetrics and Gynecology, 2nd Faculty of Medicine of the Charles University in Prague and Faculty Hospital Motol; and †Faculty of Informatics and Statistics, University of Economics, Prague, Czech Republic.

Objective: The aim of this study was to prospectively monitor the patients' quality of life (QoL) after vulvar cancer surgery.

Design: The design was prospective clinical study.

Setting: The study was set in the Department of Obstetrics and Gynecology, 2nd Medical Faculty of the Charles University and University Hospital Motol, Prague, Czech Republic.

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Concentrations of MMP-9 and TIMP-1 in lip tissue and their impact on cleft lip surgery healing.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

December 2013

Department of Clinical Biochemistry and Pathobiochemistry, 2nd Faculty of Medicine, Charles University in Prague and Faculty Hospital Motol, Prague, Czech Republic.

Aim: To compare aspects of wound healing after cleft lip surgery performed within one week of age and wound healing after surgery performed within 2 - 4 months of age, especially concentrations of matrix metalloproteinase-9 (MMP-9) and tissue inhibitor of metalloproteinases-1 (TIMP-1) in tissue removed during surgery.

Methods: 34 tissue samples (26 boys and 8 girls) were removed during surgery within one week of age (n=19) or within 2 - 4 months of age (n=15). Tissue samples were separated into epidermis, dermis and mucous membrane.

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Objective: Lymphedema is a severe postoperative complication in oncological surgery. Multifrequency bioelectrical impedance analysis (MFBIA) is a new method for early lymphedema detection. The objective was to establish the methodology of MFBIA for lower-limb lymphedema and to detect a lymphedema in patients undergoing cervical cancer surgery.

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