Publications by authors named "A Jakubiak"

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.

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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.

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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.

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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.

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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.

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