Factors influencing the return to the professional activity in patients hospitalized for myocardial infarction: a single centre experience - pilot study.

Background: Cardiovascular diseases, with myocardial infarction (MI) on the leading position, remain a serious health care issue and socio-economic burden. Nevertheless, factors influencing the return of patients to the professional activity are not fully understood. Cardiac rehabilitation may have a positive impact on the return to professional activity after MI.

Lung Ultrasonography and Computed Tomography Comparison in Convalescent Athletes after Sars-CoV-2 Infection - A Preliminary Study.

Background: The assessment of elite athletes after SARS-CoV-2 infection gives rise to doubts concerning return-to-play decisions: what period of convalescence is needed and what diagnostic measures are appropriate. While cardiovascular protocols have been widely discussed in the literature, lung parenchyma imaging was only briefly mentioned, and the usefulness of lung ultrasound has been not considered yet.

Materials And Methods: A total of 31 elite Caucasian male athletes (mean age: 26.

Lifestyle and environmental factors may induce airway and systemic inflammation in firefighters.

Health status depends on multiple genetic and non-genetic factors. Nonheritable factors (such as lifestyle and environmental factors) have stronger impact on immune responses than genetic factors. Firefighters work is associated with exposure to air pollution and heat stress, as well as: extreme physical effort, mental stress, or a changed circadian rhythm, among others.

Complex glycerol kinase deficiency - long-term follow-up of two patients.

Complex glycerol kinase deficiency (CGKD) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21. Patients with CGKD present with features characteristic for adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy and sometimes intellectual disability. We present a long-term follow-up of two unrelated boys with molecular diagnosis of complex glycerol kinase deficiency.

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.

Background: Variants in ATP1A3 cause well-known phenotypes-alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic encephalopathy. Recently, there has been growing evidence for genotype-phenotype correlations in the ATP1A3 variants, and a separate phenotype associated with variants in residue 756-two acronyms are proposed for the moment-FIPWE (fever-induced paroxysmal weakness and encephalopathy) and RECA (relapsing encephalopathy with cerebellar ataxia).

Materials And Methods: Herein, we are describing two new pediatric cases with a p.

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland.

Benefits and limitations of electrocardiographic and echocardiographic screening in top level endurance athletes.

The study was designed to assess the usefulness of routine electrocardiography (ECG) as well as transthoracic echocardiography (TTE) in screening top level endurance athletes. An additional goal was to attempt to identify factors determining occurrence of adaptive and abnormal changes in ECG and TTE. The retrospective analysis included basic medical data, ECG and TTE results of 262 athletes (123 rowers, 32 canoeists and 107 cyclists), members of the Polish National Team.

Should I keep studying? Consequences of a decision to stop learning in young and older adults.

In situations of cognitive overload, the role of a metacognitive decision to stop learning is of utmost importance. We investigated how young and older adults decide to stop learning as a strategy for maximizing memory performance when they face to-be-learned material exceeding their memory capability. People may decide to stop learning for two main reasons: they experience a growing feeling of disfluency as a learning episode progresses and/or they perceive such a decision to be beneficial for future memory performance.

Correction to: The effect of western diet on mice brain lipid composition.

[This corrects the article DOI: 10.1186/s12986-019-0401-4.].

The Effect of a High-Fat Diet on the Fatty Acid Composition in the Hearts of Mice.

The Western diet can lead to alterations in cardiac function and increase cardiovascular risk, which can be reproduced in animal models by implementing a high-fat diet (HFD). However, the mechanism of these alterations is not fully understood and may be dependent on alterations in heart lipid composition. The aim of this study was to evaluate the effect of an HFD on the fatty acid (FA) composition of total lipids, as well as of various lipid fractions in the heart, and on heart function.

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.

Background: Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by the presence of various symptoms related to deficits in communication and social interactions as well as stereotyped and repetitive behavior. Increasing evidence indicates the contribution of genetic factors in the etiology of ASDs. Genetic diagnosis in ASDs is based on identifying chromosome aberrations, microaberrations and point mutations in specific genes.

The effect of western diet on mice brain lipid composition.

Background: The appropriate fatty acids composition of brain lipids is critical for functioning of this organ. The alterations of brain fatty acids composition may lead to neurological and neurodegenerative diseases.

Methods: The aim of this work was to evaluate the effect of western diet containing high fat content on fatty acid composition of brain lipids.

The differences in electrocardiogram interpretation in top-level athletes.

Background: The Ministry of Health in Poland recommends electrocardiogram (ECG)-based cardiovascular screening in athletes, but so far there has been a lack of guidelines on preparticipation assessment. We compared different criteria of ECG screening assessment in a group of top-level athletes.

Aim: The aims were to evaluate the prevalence of ECG changes in athletes that necessitate further cardiological work-up according to three criteria in various age groups as well as to identify factors determining the occurrence of changes related and unrelated to the training.

Echocardiographic assessment of right ventricle adaptation to endurance training in young rowers - speckle tracking echocardiography.

The aim of this study was to determine the relationship between the degree of cardiorespiratory fitness and the function of the right ventricle (RV). 117 rowers, age 17.5±1.

The methylome and transcriptome of fetal skin: implications for scarless healing.

Aim: Fetal skin is known to heal without scarring. In mice, the phenomenon is observed until the 16-17 day of gestation - the day of transition from scarless to normal healing. The study aims to identify key methylome and transcriptome changes following the transition.

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

Background: A clinical case is described of growth retardation, severe developmental delay, facial dysmorphic features with microcephaly, as well as congenital cataract, schizencephaly, periventricular calcifications, and epilepsy.

Methods: TORCH infection was suspected, but all tests for toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus were negative for the child and her mother; however, an increased level of antibodies against parvovirus B19 was detected in the proband.

Results: Chromosomal analysis and array-CGH showed no aberration.

[Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases].

Unlabelled: The aim of the study was to assess whether commercial kit QF-PCR can be used as the only method for rapic prenatal dia gnosis of chromosomes 13, 18, 21, X and Y aneuploidies, omitting cell culture and complete cyt6genetik analysis of fetal chromosomes.

Material And Methods: DNA from amniocytes (94 cases) and trophoblast cells (6 cases) was analyzed witt QF-PCR according to the manufacturer's protocol. The obtained products were separated using ABI 310 Genetic Analyzer and the resulting data were analyzed using GeneMarker software.

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

We present the phenotype of three unrelated Polish patients with MFD type Guion-Almeida confirmed by EFTUD2 mutations. In all of our patients, dysmorphic craniofacial features, microcephaly, thumb abnormalities, psychomotor and speech delay were described. In addition, among other major defects, esophageal atresia (EA) in one patient and choanal atresia in two of them were present.

Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.

Background: Neurofibromatosis type I (NF1, Recklinghausen's disease) is an autosomal dominant disorder characterized by the following clinical features: café au lait spots, neurofibromas, Lisch nodules, freckling of the axillary and inguinal regions, optic nerve gliomas, bone dysplasia and increased risk of certain tumors. NF1 is diagnosed on the basis of clinical criteria, while identifying the genetic background of the disease is important mainly for genetic counseling. NF1 genetic analysis is based on searching for NF1 exon deletions/duplications using Multiplex ligation-dependent probe amplification (MLPA), searching for microdeletions of the critical region using fluorescence in situ hybridization (FISH), searching for point mutations by gene sequencing (in most cases) and analyzing mRNA.

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Background: Metacarpal 4-5 fusion (MF4; MIM#309630) is a rare congenital malformation of the hand characterized by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly occurs as an isolated trait or part of a genetic syndrome. Recently, we have identified FGF16 nonsense mutations as the underlying cause of isolated X-linked recessive MF4.

Alternations in genes expression of pathway signaling in esophageal tissue with atresia: results of expression microarray profiling.

Esophageal atresia (EA) is a congenital defect of the esophagus involving the interruption of the esophagus with or without connection to the trachea (tracheoesophageal fistula [TEF]). EA/TEF may occur as an isolated anomaly, may be part of a complex of congenital defects (syndromic), or may develop within the context of a known syndrome or association. The molecular mechanisms underlying the development of EA are poorly understood.

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].

The Smith-Magenis syndrome (SMS) is a rare microdeletion dysmorphic syndrome (interstitial microdeletion of chromosome 17p11.2), which occurs sporadically. Mutations in the RAI1 gene are found in part of the patients.

Metabolic stability of new anticonvulsants in body fluids and organ homogenates.

The stability as a function of time of compounds with established anticonvulsant activity: picolinic acid benzylamide (Pic-BZA), picolinic acid 2-fluorobenzylamide (Pic-2-F-BZA), picolinic acid 3-fluorobenzylamide (Pic-3-F-BZA), picolinic acid 4-fluorobenzylamide (Pic-4-F-BZA) and picolinic acid 2-methylbenzylamide (Pic-2-Me-BZA) in body fluids and homogenates of body organs were determined after incubation. It was found that they decompose relatively rapidly in liver and kidney and are stable against enzymes present in body fluids and some organs. These results are consistent with the bond strength expressed as total energy of amide bonds (calculated by quantum chemical methods) in the studied anticonvulsants.

Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).

Contiguous gene syndromes are disorders caused by deletions of genes that are adjacent to one another. One of them is complex glycerol kinase deficiency. It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy and intellectual disability.

[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology].

Unlabelled: Developmental delay and intellectual disability are significant medical and social problems which concern 1-3% of population. The etiology remains unknown in over half of the cases.

The Aim: To evaluate the efficiency of MLPA (Multiplex Ligation-dependent Probe Amplification) as a screening test in diagnosis of patients with developmental delay and/or intellectual disability.