Publications by authors named "Kamil Hozyasz"

Introduction: Poland has the largest shortage of nurses in Europe, as well as a low percentage of male nurses. Information relating to emotional intelligence has been explored to determine whether it predicts the characteristics and outcomes of qualified health professionals during their academic training and practice.

Objective: This study aimed to measure differences in emotional intelligence between male and female nursing students.

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Introduction: Antinuclear antibodies (ANA) are the hallmark of many connective tissue disorders (including lupus), which comprise roughly 5% to 10% of chronic debilitating diseases causing morbidity and mortality. In society, fear of these diseases increases illness-related uncertainty because the prognosis of progression is often difficult to determine and at least some symptoms fluctuate unpredictably. In the anti-vaccination movement, the question of the possible connection between vaccination and connective tissue disorders and other autoimmune diseases has grown to rank as an important argument for rejecting vaccination.

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Context: So far, the phenomenon of folk healers in Podlasie (eastern Poland) has not attracted the interest of medical professionals. There are no statistics describing the scale of the phenomenon. The study aimed to find out whether young adults undertaking studies and those around them use the help of whisperers.

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Objectives: Empirical determination of phenylalanine (Phe) tolerance in patients with phenylketonuria (PKU) relies on frequent assessment of blood Phe concentrations in relation to Phe intake from detailed meal records. This study aimed to determine Phe tolerance in twin pregnancies.

Methods: The reviewed cases included three women with PKU who each had a singleton and twin pregnancy (i.

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Background: Women with untreated phenylketonuria (PKU) are at an increased risk to have offspring with multiple abnormalities due to teratogenic effects of hyperphenylalaninaemia. Treatment goals include blood phenylalanine concentrations between 120 and 360 µmol/L, however, there are limited pieces of evidence for the practical management of pregnant PKU patient and prediction of phenylalanine tolerance changes during a course of pregnancy.

Case: We report the case of a mother with classical PKU (p.

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Objective: The etiology of non-syndromic cleft lip with or without cleft palate (nsCL/P) is multifactorial, heterogeneous, and still not completely understood. The aim of the present study was to examine the associations between common and rare PAX7 nucleotide variants and the risk of this common congenital anomaly in a Polish population.

Subjects And Methods: Eight top nsCL/P-associated PAX7 variants identified in our cleft genome-wide association study (GWAS) were selected for replication analysis in an independent group of patients and controls (n = 247 and n = 445, respectively).

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Purpose: Hypospadias is a common developmental anomaly of the male external genitalia. In previous studies conducted on West European, Californian, and Han Chinese populations the relationship between polymorphic variants of the diacylglycerol kinase kappa (DGKK) gene and hypospadias have been reported. The aim was to study the possible associations between polymorphic variants of the DGKK gene and hypospadias using an independent sample of the Polish population.

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Although the aetiology of non-syndromic cleft lip with or without cleft palate (nsCL/P) has been studied extensively, knowledge regarding the role of genetic factors in the pathogenesis of this common craniofacial anomaly is still limited. We conducted a follow-up association study to confirm that CDKAL1 nucleotide variants identified in our genome-wide association study (GWAS) for nsCL/P are associated with the risk of this anomaly. In addition, we performed a sequence analysis of the selected CDKAL1 exons.

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Autism spectrum disorders (ASD) are characterized by impairments in language and communication development, social behavior, and the occurrence of stereotypic patterns of behavior and interests. Despite substantial speculation about causes of ASD, its exact etiology remains unknown. Recent studies highlight a link between immune dysfunction and behavioral traits.

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Unlabelled: Phenylketonuria (PKU) is the autosomal recessive deficiency of phenylalanine hydroxylase resulting in the accumulation of phenylalanine (Phe) in blood and in the brain. Phe restriction in a patient's diet is determined depending on the amount of Phe intake which allows for stable blood Phe levels within the therapeutic range of 120-360µmol/L. In clinical practice the empirical determination of Phe tolerance relies on frequent assessment of blood Phe concentrations in relation to Phe intake from food records.

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Introduction: Consumption of gluten proteins leads to an enteropathy characterised by lymphocytic infiltration of mucous membrane, crypts hypertrophy, and atrophy of villi. Enteropathy leads to disturbances in the immune system as well as secondary deficiency of vitamin E.

Aim: Analysis of the concentration of vitamin E in erythrocytes of patients with celiac disease.

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17p13.3 duplication is a rare and heterogeneous genetic syndrome. Microdeletions of this region are responsible for the symptoms of Miller-Dieker syndrome.

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Unlabelled: Phenylketonuria is an inborn error of metabolism treated with a closely monitored low phenylalanine diet. Protein substitutes used for treatment are supplemented with vitamins and micronutrients.

Aim: The aim of this study was to investigate plasma folic acid concentrations in children with phenylketonuria.

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Achieving a successful and well-functioning reconstruction of craniofacial deformities still remains a challenge. As for now, autologous bone grafting remains the gold standard for alveolar cleft reconstruction. However, its aesthetic and functional results often remain unsatisfactory, which carries a long-term psychosocial and medical sequelae.

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Introduction: Hypospadias has a complex etiology with both genetic and environmental factors contributing to the condition. Urogenital abnormalities including hypospadias, are found in 22% of cases with Ellis van Creveld syndrome (EvC). Mutations in the EVC gene can cause major and minor anomalies, which form phenotypes that partially overlap with those present in EvC.

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A deficiency of GTP cyclohydrolase, encoded by the GCH1 gene, results in two neurological diseases: hyperphenylalaninaemia type HPABH4B and DOPA-responsive dystonia. Genes involved in neurotransmitter metabolism and motor systems may contribute to palatogenesis. The purpose of the study was to analyse polymorphic variants of the GCH1 gene as risk factors for non-syndromic cleft lip with or without cleft palate (NSCL/P).

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Article Synopsis
  • The study investigates the GREM1 gene's role in nonsyndromic cleft lip with or without cleft palate (NSCL/P) within the Polish population, focusing on specific genetic variations.
  • Researchers analyzed eight genetic polymorphisms in 334 NSCL/P patients and 955 controls, discovering significant associations with five of them, particularly rs16969681, which showed a lower risk for NSCL/P.
  • The findings imply that variants affecting GREM1 expression levels are more critical for NSCL/P risk than those altering the protein's function, with no rare variants linked to the condition found during further analysis.
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Unlabelled: Primary monosymptomatic nocturnal enuresis (PMNE) is the most frequent (85%) type of enuresis in children. It remains a diagnostic and therapeutic challenge to establish its etiology and implement a proper treatment.

Aim: The aim of the study was to establish the causes of PMNE in children on the basis of own investigations and assess factors having influence over PMNE etiology, which would enable the choice of effective therapy.

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Article Synopsis
  • The study investigates the complex causes of nonsyndromic cleft lip and/or palate (NSCL/P), focusing on the potential impact of DNA repair gene polymorphisms in a Polish population.
  • Researchers analyzed 36 polymorphisms in 12 DNA damage repair genes in a group of 263 NSCL/P patients compared to a control group of 526.
  • Findings indicate that specific variants in the BRIP1 gene increase the risk of NSCL/P, suggesting it may be a new candidate gene linked to this birth defect.
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The CDH1 gene plays an important role during carcinogenesis and craniofacial morphogenesis. Germline mutations in this gene have been described in families presenting syndromic diffuse gastric cancer and orofacial clefts. The aim of this study was to evaluate the association between nucleotide variants of CDH1 and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P).

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Background: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common structural malformation with a complex and multifactorial aetiology. Associations of abnormalities in phenylalanine metabolism and orofacial clefts have been suggested.

Methods: Eight single nucleotide polymorphisms (SNPs) of genes encoding phenylalanine hydroxylase (PAH) and large neutral l-amino acid transporter type 1 (LAT1), as well as the PAH mutation that is most common in the Polish population (rs5030858; R408W), were investigated in 263 patients with NSCL/P and 270 matched controls using high resolution melting curve analysis (HRM).

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Introduction: Primary monosymptomatic nocturnal enuresis is the most frequent (85%) type of enuresis in children. Establishing its causes enables the choice of effective therapy.

Aim: To establish the causes of primary, monosymptomatic nocturnal enuresis in children on the basis of own investigations.

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Orofacial clefts are among the most common birth defects and result in an improper formation of the mouth or the roof of the mouth. Monosomy of the distal aspect of human chromosome 6p has been recognized as causative in congenital malformations affecting the brain and cranial skeleton including orofacial clefts. Among the genes located in this region is PAK1IP1, which encodes a nucleolar factor involved in ribosomal stress response.

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