Publications by authors named "Ewa Bocian"

Disinfectants and antiseptics lead in reducing the number of microorganisms, including pathogenic ones, thus limiting the number of infections. In the veterinary field, disinfection prevents the transfer of pathogenic microorganisms from animals to humans and , as well as among animals. Several assays of disinfectant antimicrobial activity testing, often not standardized, without appropriate controls, and not validated, have been used and published.

View Article and Find Full Text PDF

The purpose of disinfectants is to reduce microorganisms on a contaminated surface and to prevent the spread of microorganisms. The relatively new EN 16615 simulates disinfection by wiping and allows for assessing the recovery of microorganisms from the surface and, importantly, the degree of spread of microorganisms when the surface is disinfected by wiping. For the first time, using this standard, the tested products in the form of commercial disinfectant wipes were compared with self-made wipes soaked in respective disinfectant liquids.

View Article and Find Full Text PDF

Major congenital anomalies are detectable in 2-3 % of the newborn population. Some of their genetic causes are attributable to copy number variations identified by array comparative genomic hybridization (aCGH). The value of aCGH screening as a first-tier test in children with multiple congenital anomalies has been studied and consensus adopted.

View Article and Find Full Text PDF

Cleft lip with or without cleft palate is one of the most common birth defects of unknown etiology. A fraction of its genetic causes is attributable to copy number variations detected by array comparative genomic hybridization. The value of array comparative genomic hybridization screening as a first-tier test in the newborn population with multiple congenital anomalies has now been accepted.

View Article and Find Full Text PDF

Introduction: Intellectual disability (ID)/Developmental delay (DD), which occurs in 1-3% of the population, accounts for a large number of cases regularly seen in genetics clinics. Currently, Array Comparative Genomic Hybridization (array CGH) is recommended by the International Standards for Cytogenomic Arrays (ISCA) Consortium as a first line test in the diagnostics of ID/DD, replacing G-banded chromosome analysis.

The Aim: Application of array CGH in clinical diagnostics of developmental delay/ intellectual disability in children.

View Article and Find Full Text PDF

Background: The history of the investigation of standardized mycobactericidal activity of disinfectants and antiseptics is not very long. There is growing interest among the manufacturers of disinfectants in carrying out research on the antimicrobial activities in accordance with European standards (EN). This research could facilitate the introduction of high-quality disinfectants to the market.

View Article and Find Full Text PDF

Introduction: According to common belief, supported by the authority of the World Health Organization - WHO, the common (social) hand washing is the simplest, cheapest and the most effective way of reduction the hospital-acquired infections. For this purpose products of"liquid soaps", present in a large number on the market, are most often applied. Microbiological status (microbiological purity and antimicrobial activity) of"liquid soaps" available on the Polish market is not known, because relevant routinely studies have not been performed.

View Article and Find Full Text PDF

We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.

View Article and Find Full Text PDF

Background: Evaluation of the biocidal activity of chemical disinfectants and antiseptics according to European Standards (EN) is based on determination of the reduction of the number of viable test microorganisms under defined conditions.

Objective: The objective of this study was to investigate whether reducing the neutralization time required following declared product contact times for the tested microorganisms yields method validations.

Material And Methods: This study was conducted on 14 products containing active substances from different chemical groups: alcohols, aldehydes, biguanides, quaternary ammonium compounds, phenols, amines derivatives, oxidizing agents.

View Article and Find Full Text PDF

Background: Currently, there is a wide range of products for mouth washing on the Polish market. They have different qualitative and quantitative compositions, and they differ particularly in the concentration of active substances. In antisepsis and disinfection, the significant reduction in number of cells of microorganisms in a particular environment is very crucial.

View Article and Find Full Text PDF

As publications on craniofacial anomalies, malocclusions and dental complications recognised in patients suffering from Moebius syndrome are scarce, the authors of this paper decided to discuss the above aspects in broader terms along with the possibilities offered by orthodontic treatment. The etiology of Moebius syndrome has not hitherto been discovered, however the opinion prevails that it is brought on by multiple factors and conditions. In the analysed case, Moebius syndrome was diagnosed only when the patient was 6 years old.

View Article and Find Full Text PDF

Background: Congenital heart defects are the most common group of major birth anomalies and one of the leading causes of infant deaths. Mendelian and chromosomal syndromes account for about 20% of congenital heart defects and in some cases are associated with other malformations, intellectual disability, and/or dysmorphic features. The remarkable conservation of genetic pathways regulating heart development in animals suggests that genetic factors can be responsible for a significantly higher percentage of cases.

View Article and Find Full Text PDF

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, including childhood autism, atypical autism, and Asperger syndrome, with an estimated prevalence of 1.0-2.5% in the general population.

View Article and Find Full Text PDF

Copy-number variants (CNVs) collectively represent an important cause of neurodevelopmental disorders such as developmental delay (DD)/intellectual disability (ID), autism, and epilepsy. In contrast to DD/ID, for which the application of microarray techniques enables detection of pathogenic CNVs in -10-20% of patients, there are only few studies of the role of CNVs in epilepsy and genetic etiology in the vast majority of cases remains unknown. We have applied whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) to a cohort of 102 patients with various types of epilepsy with or without additional neurodevelopmental abnormalities.

View Article and Find Full Text PDF

Objectives: The study was aimed to determine diagnostic application of MLPA for rapid prenatal identification of chromosome 13, 18, 21 and X and Y aneuploidies.

Material And Methods: 409 amniotic fluid samples from amniocentesis for fetal karyotyping were studied. DNA was isolated using the QIAmp DNA Blood Midi Kit (348 samples) or through proteinase K treatment (61 samples).

View Article and Find Full Text PDF

The development of midbrain dopamine (DA) neurons is regulated by several transcription factors, including Nurr1, Wnt1, Lmx1a/1b, En1, En2, Foxa1, Foxa2, and Pitx3. PITX3 is an upstream co-activator of the TH (tyrosine hydroxylase) promoter. Pitx3(-/-) mice have a selective loss of dopaminergic neurons in the substantia nigra and ventral tegmental area, leading to the significantly reduced DA levels in the nigrostriatal pathway and in the dorsal striatum and manifest anomalous striatum-dependent cognitive impairment and neurobehavioral activity.

View Article and Find Full Text PDF

Background: The known bactericidal properties of ozone have not been checked in relation to its action on bacterial biofilms. This is especially true of ozonated fluids. The aim of this study was to investigate the bactericidal activity of ozonated water and that of a mixture of ozone and oxygen against biofilms.

View Article and Find Full Text PDF

Purpose: Mutations in the CDKL5 gene have been associated with an X-linked dominant early infantile epileptic encephalopathy-2. The clinical presentation is usually of severe encephalopathy with refractory seizures and Rett syndrome (RTT)-like phenotype. We attempted to assess the role of mosaic intragenic copy number variation in CDKL5.

View Article and Find Full Text PDF

Alpha-thalassemia/mental retardation syndrome (ATR-X) is a neurodevelopmental disorder with characteristic clinical picture as well as presence of pathognomonic haemoglobin H inclusions (HbH) on peripheral blood examination. Typical features of this condition are: severe intellectual impairment, muscular hypotonia, delay of growth, genitourinary/skeletal abnormalities and characteristic facial dysmorphism. Molecular basis of the syndrome constitute mutations in ATR-X gene located on the long arm of X chromosome (Xq13).

View Article and Find Full Text PDF

We report 26 individuals from ten unrelated families who exhibit variable expression and/or incomplete penetrance of epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities as a result of a heterozygous microdeletion distally adjacent to the Williams-Beuren syndrome region on chromosome 7q11.23. In six families with a common recurrent ∼1.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigated the bactericidal and fungicidal effectiveness of ozonated water according to standard testing guidelines (EN 1040 and EN 1275) using various clinical strains, including multidrug-resistant bacteria.
  • The research utilized a prototype device for intraoperative ozone therapy that demonstrated high ozone concentrations capable of killing most tested bacterial and yeast strains within 30 seconds, with some exceptions for fungal spores.
  • The findings confirmed that the ozonated water produced met the required standards for antimicrobial activity, suggesting its potential use for tissue protection against infections during surgeries.
View Article and Find Full Text PDF

We present four patients, in whom we identified overlapping deletions in 5q14.3 involving MEF2C using a clinical oligonucleotide array comparative genomic hybridization (CGH) chromosomal microarray analysis (CMA). In case 1, CMA revealed an approximately 140 kb deletion encompassing the first three exons of MEF2C in a 3-year-old patient with severe psychomotor retardation, periodic tremor, and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features.

View Article and Find Full Text PDF

Introduction: In approximately 6% of balanced chromosomal rearrangements carriers, intellectual disability, dysmorphic features and congenital anomalies can be found. The abnormal phenotype might be the result of genomic imbalance or aberrant expression caused by direct breakage of a dosage sensitive gene.

The Aim Of This Study: To estimate the frequency and implication of the submicroscopic chromosomal aberrations on the abnormal phenotypes present in patients with balanced chromosomal rearrangements.

View Article and Find Full Text PDF

A PHP Error was encountered

Severity: Warning

Message: fopen(/var/lib/php/sessions/ci_sessionhnjna0f0obqf2etm41q9ihnt0rgk7ip4): Failed to open stream: No space left on device

Filename: drivers/Session_files_driver.php

Line Number: 177

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once

A PHP Error was encountered

Severity: Warning

Message: session_start(): Failed to read session data: user (path: /var/lib/php/sessions)

Filename: Session/Session.php

Line Number: 137

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once