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1.
J Clin Med ; 12(23)2023 Nov 21.
Article in English | MEDLINE | ID: mdl-38068249

ABSTRACT

BACKGROUND: The objective of this retrospective cohort study was to present the experience of 20-year-long comprehensive care of pediatric patients with familial hypercholesterolemia (FH) in a single academic center. METHODS AND RESULTS: The study included 84 children aged 1-18 years with FH. For the whole study group, 535 medical visits were recorded. The mean follow-up period was 33.6 months. Molecular testing performed in 55 children (65%) provided genetic confirmation of the diagnosis in 36 children (43%). Twenty-seven children (32%) were treated pharmacologically with statins. Follow-up during the treatment averaged 29 months. Treatment with statins was associated with a mean reduction in total cholesterol and LDL-cholesterol levels of 24 and 33% from the baseline. Symptoms of statin intolerance occurred incidentally and did not require amendment in the treatment protocol. Significantly higher values of body weight, height, and BMI were found only among girls older than 10 years who were treated with statins. CONCLUSIONS: These data confirm a high efficacy and a good safety profile of statin treatment in children with FH, demonstrating no harm to physical development. However, there is a need for further cause-and-effect research regarding associations between long-term treatment with low-cholesterol, low-fat diets, statin therapy, and excessive weight gain.

2.
Int J Occup Med Environ Health ; 36(3): 333-348, 2023 Sep 07.
Article in English | MEDLINE | ID: mdl-37681423

ABSTRACT

OBJECTIVES: The study aimed to evaluate the impact of aging on the formation of neutrophil extracellular traps (NETs). The impaired formation of NETs is the cause of an abnormal innate immune response. MATERIAL AND METHODS: The study included a total of 45 healthy male subjects of different age groups. Whole blood was collected from the subjects, and the concentration of myeloperoxidase (MPO), the main biocidal protein in NETs, was determined in serum using ELISA. The serum levels of circulating free DNA (cfDNA), which are the structural basis of NETs, were also measured by fluorescence. In addition, the white blood cell count was determined, whole blood smear was evaluated, and the neutrophillymphocyte ratio was calculated. The variations in the levels of NET biomarkers were analyzed in different age groups. RESULTS: The low levels of MPO (243.70 ng/ml) and cfDNA (6.24 ng/100 µl) in boys indicated neutrophil insufficiency for NETosis in children. A progressive increase in the levels of MPO and cfDNA with age was observed among adolescents (420.91, p = 0.04; 13.55, p = 0.03, respectively), with the highest level noted in the healthy adult group (466.58, p = 0.01; 14.07, p = 0.01, respectively). The levels of the studied parameters were comparable in adolescents and young adults, which proved that the NETosis process was appropriate and suggested the attainment of neutrophil maturity for the release of NETs in adolescence. The levels of MPO and cfDNA were low in older men (225.46, p < 0.01; 5.19, p < 0.01, respectively) indicating impaired NET formation. CONCLUSIONS: Data on the generation of NETs in different age groups obtained in this study can allow a better understanding of the ontogenesis of the immune system in terms of the course of NETosis, and also indicate the need to support nonspecific responses in children and adults. Further research should be performed to determine the possibility of regulating the NETosis process. Int J Occup Med Environ Health. 2023;36(3):333-48.


Subject(s)
Cell-Free Nucleic Acids , Extracellular Traps , Adolescent , Child , Young Adult , Humans , Male , Aged , Pilot Projects , Neutrophils , Biomarkers
3.
J Clin Med ; 12(17)2023 Sep 03.
Article in English | MEDLINE | ID: mdl-37685803

ABSTRACT

INTRODUCTION: Percentiles of birth weight by gestational age (GA) are an essential tool for clinical assessment and initiating interventions to reduce health risks. Unfortunately, Poland lacks a reference chart for assessing newborn growth based on the national population. This study aimed to establish a national reference range for birth weight percentiles among newborns from singleton deliveries in Poland. Additionally, we sought to compare these percentile charts with the currently used international standards, INTERGROWTH-21 and WHO. MATERIALS AND METHODS: All singleton live births (n = 3,745,239) reported in Poland between 2010 and 2019 were analyzed. Using the Lambda Mu Sigma (LMS) method, the Generalized Additive Models for Location Scale, and Shape (GAMLSS) package, smoothed percentile charts (3-97) covering GA from 23 to 42 weeks were constructed. RESULTS: The mean birth weight of boys was 3453 ± 540 g, and this was higher compared with that of girls (3317 ± 509 g). At each gestational age, boys exhibited higher birth weights than girls. The weight range between the 10th and 90th percentiles was 1061 g for boys and 1016 g for girls. Notably, the birth weight of Polish newborns was higher compared to previously published international growth standards. CONCLUSION: The reference values for birth weight percentiles established in this study for Polish newborns differ from the global standards and are therefore useful for evaluating the growth of newborns within the national population. These findings hold clinical importance in identifying neonates requiring postbirth monitoring.

4.
J Clin Med ; 12(18)2023 Sep 08.
Article in English | MEDLINE | ID: mdl-37762801

ABSTRACT

A number of studies have been conducted on multimorbidity; however, there are different patterns in various countries, ethnicities and social groups. The aim of this study is to estimate the prevalence of multimorbidity (physical diseases) in the urban population in Poland. In this population-based study, we examined multimorbidity stratified by sex, age, educational attainment and professional activity. Sixty-seven conditions were identified based on self-reported history (known conditions) and completed examinations (unknown conditions). Among the overall individuals aged 20-80 years, 1422 (88.2%) of the total 1612 individuals, 787 (88.9%) of 885 women and 635 (87.3%) of 727 men were diagnosed with at least two chronic conditions. On average, 5.25 ± 3.5 conditions occurred in the study population. The number of diagnosed conditions per individual increased with age and decreased with higher educational levels, with differing pathways in women and men. Women showed a higher number of conditions than men in the same age groups and educational levels. Only among students, the level of multimorbidity was lower in women than in men. In the other occupational activity categories, it was already higher in women. The level of multimorbidity in employed and unemployed individuals in a particular sex cluster was similar. We identified a high prevalence of multimorbidity in the urban population in Poland varying by age, sex, education attainment and professional activity. Our work may help in the selection of appropriate screening tests based on age, sex and educational attainment in order to recognise multimorbidity based on both known and unknown conditions. Ultimately, it may impact clinical practice, service delivery and study design.

5.
J Clin Med ; 12(2)2023 Jan 09.
Article in English | MEDLINE | ID: mdl-36675464

ABSTRACT

Small for gestational age (SGA) births are a significant clinical and public health issue. The objective of this review was to summarize maternal biological and socio-demographic factors and preventive strategies used to reduce the risk of SGA births. A literature search encompassing data from the last 15 years was conducted using electronic databases MEDLINE/PubMed, Google Scholar and Scopus to review risk factors and preventive strategies for SGA. Current evidence shows that primiparity, previous stillbirths, maternal age ≤24 and ≥35 years, single motherhood, low socio-economic status, smoking and cannabis use during pregnancy confer a significant risk of SGA births. Studies on alcohol consumption during pregnancy and SGA birth weight are inconclusive. Beneficial and preventive factors include the "Mediterranean diet" and dietary intake of vegetables. Periconceptional folic acid supplementation, maternal 25-hydroxyvitamin D, zinc and iron levels are partly associated with birth weight. No significant associations between COVID-19 vaccinations and birthweight are reported. A midwifery-led model based on early and extensive prenatal care reduces the risk of SGA births in women with low socio-economic status. Major preventive measures relate to the awareness of modifiable and non-modifiable risk factors of SGA, leading to changes in parents' lifestyles. These data support that education, monitoring during pregnancy, and implementing preventive strategies are as important as biological determinants in risk reduction of SGA births.

6.
J Clin Med ; 11(10)2022 May 22.
Article in English | MEDLINE | ID: mdl-35629051

ABSTRACT

The aim of this cross-sectional study was to assess the influence of simvastatin treatment in children with familial hypercholesterolemia (FH) on parameters of cellular immunity. Twenty-six children with FH were included, of which thirteen were treated with 10 mg simvastatin for at least 26 weeks, and thirteen were age- and sex-matched with a low-cholesterol diet only. Total WBC count and lipid profile were measured. Flow cytometry was used to identify lymphocyte subsets and determine the expression of adhesion molecules (AM) and toll-like receptors (TLRs) on leukocytes. No differences were found in the basic values of peripheral blood count and subpopulations of lymphocytes between groups. The percentage of granulocytes with the expression of AM was higher in those treated with statins. The TLR-2 expression on granulocytes and monocytes showed higher values, whereas the TLR-4 expression was lower on lymphocytes and granulocytes in simvastatin-treated children. Treatment with simvastatin in children with FH is not associated with alterations in the amounts of granulocytes and monocytes. There is no association between statin treatment and the pattern of peripheral blood lymphocyte subpopulations. The role of AM and TLRs needs further investigation, given the effect of statins on the innate immunity may be important for their efficacy and safety during growth.

7.
Article in English | MEDLINE | ID: mdl-35162402

ABSTRACT

BACKGROUND: Despite numerous studies of women having children later in life, evidence of the relationship between maternal factors and newborn outcomes in Central and Eastern European countries is limited. This study aimed to examine the association between maternal age, biological determinants, including parity and sex of the newborn, demographic and social background, and birth weight in 3.8 million singleton live births in Poland. METHODS: The effect of maternal age on birth weight (in grams and Z-scores) adjusted for confounders was assessed using Generalized Linear Models. RESULTS: The mean (±SD) birth weights of neonates born to primiparous women and multiparous women were 3356.3 ± 524.9 g and 3422.7 ± 538.6 g, respectively, which corresponded to a Z-score of -0.07 ± 0.96 and 0.14 ± 1.00, respectively (p ≤ 0.001). After controlling for biological, demographic, and social factors, a significant decrease in birth weight was found for primiparous women of the age group ≥30 years and multiparous women aged ≥35 years compared to the age group of 25-29 years. The lowest neonatal birth weight was observed in the case of women aged ≥45 years. Confounders did not affect birth weight Z-scores among primiparous women, whereas among multiparous women, together with educational factors, they reversed Z-scores from positive to negative values. The lower birth weight of neonates was overall associated with lower maternal education. CONCLUSIONS: Regardless of parity, advanced maternal age is strongly associated with a decreased neonatal birth weight, implying complications in early pregnancy and the antenatal period as well as obstetric complications. Counseling to support women's family planning decisions and improving women's education during their reproductive age may help to alleviate unfavorable newborn outcomes.


Subject(s)
Infant, Low Birth Weight , Live Birth , Adult , Birth Weight , Child , Female , Humans , Infant, Newborn , Maternal Age , Middle Aged , Parity , Pregnancy
8.
Cardiovasc Drugs Ther ; 36(1): 75-84, 2022 02.
Article in English | MEDLINE | ID: mdl-33052507

ABSTRACT

PURPOSE: Familial hypercholesterolemia (FH) requires early treatment. However, statins, which are regarded the first-line therapy, have an influence on redox balance. Antioxidant vitamins are important for many metabolic processes in the developing body. There are few data available on the long-term safety of statin use in children. The aim of this study was to evaluate the influence of statin treatment in children with FH on plasma concentrations of antioxidant vitamins: retinol, alpha-tocopherol and coenzyme Q10. METHODS: The first study group consisted of 13 children aged 10-18 years treated with simvastatin for at least 6 months, and the second group comprised 13 age- and sex-matched children with hypercholesterolemia, in whom pharmacological treatment had not been applied yet. Analyses were performed using a high-performance liquid chromatograph coupled with a MS detector. RESULTS: The analysis did not reveal significant differences in the concentration of retinol, alpha-tocopherol or coenzyme Q10 between the studied groups. The adjustment of the concentrations of the vitamins to the cholesterol level also indicated no significant differences. We found no deficits in antioxidant vitamins in patients treated with statins, or any risk of adverse effects associated with an increase in their concentration. CONCLUSION: There is no rationale for additional supplementation using antioxidant vitamins or modification of low-fat and low-cholesterol diet in pediatric patients treated with statins.


Subject(s)
Antioxidants/metabolism , Hydroxymethylglutaryl-CoA Reductase Inhibitors/administration & dosage , Hyperlipoproteinemia Type II/drug therapy , Adolescent , Child , Chromatography, High Pressure Liquid , Diet, Fat-Restricted , Female , Humans , Hydroxymethylglutaryl-CoA Reductase Inhibitors/pharmacology , Hyperlipoproteinemia Type II/blood , Male , Ubiquinone/analogs & derivatives , Ubiquinone/blood , Vitamin A/blood , alpha-Tocopherol/blood
9.
Cent Eur J Immunol ; 46(1): 118-120, 2021.
Article in English | MEDLINE | ID: mdl-33897293

ABSTRACT

Neutropenia, congenital or acquired, is related to impaired granulocyte production in the bone marrow or increased destruction by antibodies. Autoimmune neutropenia of infancy (AIN) is associated with the occurrence of antineutrophil antibodies. AIN is the most common cause of neutropenia in infants and young children. However, its incidence is low. Detection of anti-neutrophil antibodies is an important step in confirming the diagnosis of AIN, although their detection is difficult due to low titer and poor avidity. In differential diagnosis, another cause of neutropenia should be considered, such as a drug-induced mechanism, viral infection, autoimmune and metabolic disease, hematological conditions or immune deficiency syndromes. Despite the benign course of AIN, serious infectious complications can occur. Spontaneous remission of neutropenia was observed in 95% of patients during 24 months of follow-up. We present a case of a 10-month-old boy with deafness, heart defect and Morgagni-Larrey hernia diagnosed in our department because of formation of a skin abscess due to autoimmune neutropenia.

10.
Nutr Metab (Lond) ; 14: 57, 2017.
Article in English | MEDLINE | ID: mdl-28824701

ABSTRACT

BACKGROUND: The aim of the study was to assess both patients' and their parents' knowledge of phenylketonuria (PKU) treatment and compliance with PKU diet. METHODS: The study included 173 PKU patients aged 10-19 and 110 parents of PKU children who were enrolled in the study on the basis of questionnaire data. The study also included 45 patients aged ≥20. RESULTS: Our study demonstrated that only 45% (n = 74) of PKU patients knew daily Phe intake recommendations, 27% of patients (n = 41) knew the Phe content in a minimum of three out of four researched food products. Patients' knowledge concerning Phe intake (p = 0.0181) and the knowledge of selected food products (p = 0.041819) improved with age. We did not establish such a correlation in the group of PKU children's parents. Approximately 31% of patients and 22% of parents reported helplessness, which increased with the child's age, associated with the necessity to adhere to the diet; 30% of patients reported feeling ashamed of the fact that they could not eat all food products. Regardless of age, children were more likely than parents to report helplessness (p = 0.032005). Among patients, 41.40% declared that they would wish to select products unassisted but their parents did not permit them to do so. The question of whether parents teach children self-reliance in meal preparation was answered affirmatively by 98% of parents and only 81% of children (p = 0.0001). CONCLUSION: Our data demonstrated that parents' and children's knowledge concerning treatment recommendations and food products does not have a direct impact on attitude to the PKU diet. Limiting children's independence in meal selection, growing helplessness in the face of dietary adherence and shame resulting from the necessity to follow a different diet observed in PKU families are responsible for shaping and perpetuating a consistently negative attitude to the diet. The care of PKU paediatric patients requires consistent, long-term family and individual therapy which may counteract the effects of learned helplessness. In regard to the educational effort, a good parent-child relationship as well as the teaching of behaviours motivating patients to comply with the diet are of great importance.

11.
Redox Biol ; 11: 375-383, 2017 04.
Article in English | MEDLINE | ID: mdl-28063379

ABSTRACT

Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis. Recent studies indicate new, alternative sources of oxidative stress in A-T, BS and NBS cells, including NADPH oxidase 4 (NOX4), oxidised low-density lipoprotein (ox-LDL) or Poly (ADP-ribose) polymerases (PARP). Mitochondrial abnormalities such as changes in the ultrastructure and function of mitochondria, excess mROS production as well as mitochondrial damage have also been reported in A-T, BS and NBS cells. A-T, BS and NBS cells are inextricably linked to high levels of reactive oxygen species (ROS), and thereby, chronic oxidative stress may be a major phenotypic hallmark in these diseases. Due to the presence of mitochondrial disturbances, A-T, BS and NBS may be considered mitochondrial diseases. Excess activity of antioxidant enzymes and an insufficient amount of low molecular weight antioxidants indicate new pharmacological strategies for patients suffering from the aforementioned diseases. However, at the current stage of research we are unable to ascertain if antioxidants and free radical scavengers can improve the condition or prolong the survival time of A-T, BS and NBS patients. Therefore, it is necessary to conduct experimental studies in a human model.


Subject(s)
Ataxia Telangiectasia/genetics , Bloom Syndrome/genetics , DNA Repair , Mitochondria/metabolism , Nijmegen Breakage Syndrome/genetics , Oxidative Stress/genetics , Ataxia Telangiectasia/metabolism , Ataxia Telangiectasia/pathology , Bloom Syndrome/metabolism , Bloom Syndrome/pathology , DNA Damage , Gene Expression Regulation , Humans , Lipoproteins, LDL/genetics , Lipoproteins, LDL/metabolism , Mitochondria/pathology , NADPH Oxidase 4/genetics , NADPH Oxidase 4/metabolism , Nijmegen Breakage Syndrome/metabolism , Nijmegen Breakage Syndrome/pathology , Poly(ADP-ribose) Polymerases/genetics , Poly(ADP-ribose) Polymerases/metabolism , Reactive Oxygen Species/metabolism , Signal Transduction
12.
Oxid Med Cell Longev ; 2017: 6745840, 2017.
Article in English | MEDLINE | ID: mdl-29456787

ABSTRACT

This study compared the antioxidant status and major lipophilic antioxidants in patients with ataxia-telangiectasia (AT) and Nijmegen breakage syndrome (NBS). Total antioxidant status (TAS), total oxidant status (TOS), oxidative stress index (OSI), and concentrations of coenzyme Q10 (CoQ10) and vitamins A and E were estimated in the plasma of 22 patients with AT, 12 children with NBS, and the healthy controls. In AT patients, TAS (median 261.7 µmol/L) was statistically lower but TOS (496.8 µmol/L) was significantly elevated in comparison with the healthy group (312.7 µmol/L and 311.2 µmol/L, resp.). Tocopherol (0.8 µg/mL) and CoQ10 (0.1 µg/mL) were reduced in AT patients versus control (1.4 µg/mL and 0.3 µg/mL, resp.). NBS patients also displayed statistically lower TAS levels (290.3 µmol/L), while TOS (404.8 µmol/L) was comparable to the controls. We found that in NBS patients retinol concentration (0.1 µg/mL) was highly elevated and CoQ10 (0.1 µg/mL) was significantly lower in comparison with those in the healthy group. Our study confirms disturbances in redox homeostasis in AT and NBS patients and indicates a need for diagnosing oxidative stress in those cases as a potential disease biomarker. Decreased CoQ10 concentration found in NBS and AT indicates a need for possible supplementation.


Subject(s)
Ataxia Telangiectasia/metabolism , Nijmegen Breakage Syndrome/metabolism , Oxidation-Reduction , Adolescent , Ataxia Telangiectasia/genetics , Ataxia Telangiectasia Mutated Proteins/genetics , Cell Cycle Proteins/genetics , Child , Female , Homeostasis , Humans , Male , Nijmegen Breakage Syndrome/genetics , Nuclear Proteins/genetics , Oxidative Stress , Ubiquinone/analogs & derivatives , Ubiquinone/blood , Vitamin A/blood , Vitamin E/blood
13.
Qual Life Res ; 25(11): 2967-2975, 2016 11.
Article in English | MEDLINE | ID: mdl-27245777

ABSTRACT

PURPOSE: Phenylketonuria (PKU) still poses a therapeutic challenge for patients and medical professionals. The aim of the study was to assess both patients' and their parents' acceptance of the disease. METHODS: The study included 218 PKU patients and 178 parents of PKU children who were enrolled in the study on the basis of questionnaire data. RESULTS: Regarding attitude towards the disease, our study demonstrated that 63 (28.9 %) PKU patients did not accept the disease. Patients who found accepting the disease difficult, more frequently perceived themselves as inferior/different in comparison with their peers. In total, 36 % of patients did not want their friends to be aware of their condition, while only 18 % of parents believed that their children's peers should not know about their disease. In total, 42 % of parents wanted to talk to other parents of PKU children and only 13 % to a doctor. Only 20 % of patients saw the need to discuss their condition with a doctor. In total, 8 % of children, regardless of age, and 14 % of parents preferred to talk to a psychologist. CONCLUSION: Our data demonstrated that disease acceptance played an essential role in patients' social integration. The study also indicated the need to overcome communication barriers between patients and their healthy peers and for patients to find the courage to be open about the disease. The importance of support groups for PKU families and the significance of strict cooperation between patients and their families with PKU treatment teams were also revealed.


Subject(s)
Parents/psychology , Phenylketonurias/psychology , Quality of Life/psychology , Adolescent , Adult , Attitude , Child , Female , Humans , Male , Surveys and Questionnaires , Young Adult
14.
Hum Immunol ; 73(11): 1091-7, 2012 Nov.
Article in English | MEDLINE | ID: mdl-22902394

ABSTRACT

The aim of the current study was to examine whether a congenital lack of the spleen changes distribution, state of activation and function of peripheral lymphocyte T subsets. Seven children with congenital asplenia (CA) aged 1.5-17 years and seven age-matched controls were tested. By triple-color flow cytometry we examined: (1) the expression of CD3(+), CD4(+), CD8(+), CD19(+), and CD56(+) on lymphocytes; (2) the distribution of CD45RA(+) and CD45RO(+) in CD4(+) and CD8(+); (3) the expression of CD27(+) in the CD4(+) and CD8(+) T-cell-bearing CD45RA(+), CD45RO(+), or CD45RB(+). Lymphocyte proliferative responses and cytokines production (IFN-gamma, IL-6, TNF-alfa, and IL-10) in anti-CD3-induced peripheral blood mononuclear cells were tested. The results indicate (1) a normal distribution of the basic lymphocyte subsets, (2) low CD3(+)/CD8(+) percentage but expressing CD8(+high) and non-significantly elevated CD4(+)/CD8(+) ratio, (3) CD45RA(+high) and CD27(+high) in the CD4(+) and CD8(+) T cell, and (4) CD45RB(+high) in the CD4(+) and CD45RO(+high) in the CD8(+). The distribution of CD27(+) in the CD45RA(+) and CD45RO(+) CD4(+) T cells remained unchanged. However, the percentage of CD8(+)/CD45RO(+)/CD27(+) T cells tended to be elevated. Altogether, these data indicate that CA is connected with (1) the presence CD4(+) T cells expressing the "naive" phenotype (CD45RA(+high) RB(+high) and CD27(+high)), (2) high numbers of activated CD8(+) T cells shifted toward the memory phenotype (CD45RO(+high)) but still showing high CD27(+) expression, which may indicate failure in T CD8(+) cytotoxic effectors differentiation, and (3) a tendency to the rather pro-inflammatory status of cells, low IL-10 expression, and suboptimal lymphocytes responses to mitogenic stimulation.


Subject(s)
Immunologic Deficiency Syndromes/immunology , T-Lymphocyte Subsets/immunology , Adolescent , Antigens, CD/metabolism , CD4-Positive T-Lymphocytes/immunology , CD4-Positive T-Lymphocytes/metabolism , CD8-Positive T-Lymphocytes/immunology , CD8-Positive T-Lymphocytes/metabolism , Child , Child, Preschool , Cytokines/biosynthesis , Female , Humans , Immunophenotyping , Infant , Leukocyte Common Antigens/metabolism , Lymphocyte Activation/immunology , Male , Phenotype , Primary Immunodeficiency Diseases , Spleen/abnormalities , Spleen/immunology , T-Lymphocyte Subsets/metabolism , Tumor Necrosis Factor Receptor Superfamily, Member 7/metabolism
15.
Antioxid Redox Signal ; 16(2): 179-82, 2012 Jan 15.
Article in English | MEDLINE | ID: mdl-21895448

ABSTRACT

The treatment of phenylketonuria (PKU) patients constitutes a phenylalanine (Phe) intake restriction in their diet, which is achieved by adding a special Phe-free amino acid mixture to the diet. It has been reported that this diet could have some micronutrient deficiency. Several authors have also reported an increased oxidative stress or impaired antioxidant status in human and experimental PKU. Our project assessed the concentrations of retinol, alpha-tocopherol, coenzyme Q10, and anti-oxidized low-density lipoprotein (ox-LDL) antibodies in PKU children's plasma. It was found that retinol concentration in PKU children remains within the norm despite a low intake. The lower plasma alpha-tocopherol concentration in PKU children compared with normal children was associated with the lower level of antibodies against ox-LDL. This raises the question whether higher than observed circulatory alpha-tocopherol is indeed beneficial to lower plasma ox-LDL levels. Further studies are needed to explain the genetic factor in PKU patients (e.g., CD36/FAT polymorphism gene). The open clinical question is whether daily supplementation of alpha-tocopherol changes the PKU patients' level of antibodies against ox-LDL.


Subject(s)
Antioxidants/metabolism , Autoantibodies/blood , Lipid Metabolism , Lipoproteins, LDL/immunology , Phenylketonurias/blood , Child , Child, Preschool , Female , Humans , Male
16.
Immunol Invest ; 41(1): 61-74, 2012.
Article in English | MEDLINE | ID: mdl-21877936

ABSTRACT

The spleen plays an important role in the granulocyte homeostasis due to such mechanisms as pooling, elimination of senescent cells and regulatory effects on granulocyte renewal in the bone marrow. The expression profile of granulocyte receptors was tested in children with congenital asplenia, and splenectomized for spherocytosis. Receptors tested included those appearing with maturation (CD16, CD11b, CD11c, TREM-1), disappearing (CD54, CD49d, CD64) and maintained during maturation (CD11a, CD45). In general, we found that the circulating granulocyte pool in the asplenic patients had phenotypical features of highly matured but not apoptotic neutrophils with a significantly elevated expression of CD16 (CD16(high)), tendency to a lower expression of CD45 (CD45(low)) and an unchanged expression of CD64 (and other markers indicating systemic inflammatory reactions). The high fluorescence intensity of CD11b,c, and TREM-1 in the congenital asplenia may indicate a potentially elevated pro-inflammatory status of granulocytes, possibly due to the low activity of vagus nerve and spleen-dependent cholinergic anti-inflammatory pathway.


Subject(s)
Anemia, Hemolytic, Autoimmune/immunology , Heterotaxy Syndrome/immunology , Neutrophils/metabolism , Spleen/immunology , Splenectomy , Adolescent , Antigens, CD/metabolism , Cell Differentiation , Cell Survival , Child , Child, Preschool , Female , Gene Expression Regulation/immunology , Heterotaxy Syndrome/surgery , Humans , Immunophenotyping , Infant , Inflammation Mediators/metabolism , Male , Neutrophils/immunology , Neutrophils/pathology , Spleen/abnormalities
17.
J Urol ; 184(5): 2103-8, 2010 Nov.
Article in English | MEDLINE | ID: mdl-20850811

ABSTRACT

PURPOSE: The Bonn Risk Index has been used to evaluate the risk of urinary calcium oxalate stone formation. According to the original method, risk should be determined based on 24-hour urine collection. We studied whether the Bonn Risk Index could be measured in spot urine samples and which part of the day is most suitable for this purpose. MATERIALS AND METHODS: We collected total and fractionated 24-hour urine (in a 6-hour nocturnal portion and 9 consecutive 2-hour diurnal samples) in 42 children and adolescents with calcium oxalate urolithiasis and 46 controls. Bonn Risk Index values determined from each of the urine fractions were compared to those obtained from related 24-hour urine collections. RESULTS: Both groups exhibited similar circadian patterns of Bonn Risk Index values. Median Bonn Risk Index for the nighttime portion of urine in the stone group was 1.4 times higher than that obtained from the total 24-hour urine. The morning hours between 08:00 and 10:00 showed the peak lithogenic risk, and this fraction had the highest sensitivity and selectivity regarding discrimination between stone formers and healthy subjects. The afternoon hours demonstrated lower and less fluctuating crystallization risk. Despite diurnal fluctuations in Bonn Risk Index, there was still a well-defined cutoff between the groups. CONCLUSIONS: Bonn Risk Index determined from urine samples collected between 08:00 and 10:00 appears optimal in separating stone formers from healthy subjects, and appears as useful as the value determined from 24-hour urine collection. Investigation of this diurnal sample simplifies diagnosis in pediatric stone disease without loss of clinical information.


Subject(s)
Urolithiasis/urine , Adolescent , Calcium Oxalate/analysis , Child , Child, Preschool , Female , Humans , Male , ROC Curve , Risk Assessment
18.
Przegl Epidemiol ; 63(1): 55-60, 2009.
Article in Polish | MEDLINE | ID: mdl-19522227

ABSTRACT

Antibody deficiency may have genetic basis or be secondary to other diseases or iatrogenic factors. Recurrent respiratory, gastrointestinal and skin infections consist on the most frequent clinical picture. Severe course of these infections, recurrences and difficulties in treatment may suggest immunodeficiency. Antibody deficiency may be associated with numerous complications. Intravenous or subcutaneous immunoglobulin substitution is the way of treating these patients. Prevention of infection in primary and secondary antibody deficiency also includes vaccinations, prophylaxis with antibiotics and education of patients, parents and caregivers.


Subject(s)
Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/therapy , Infections/immunology , Autoimmune Diseases/immunology , Diagnosis, Differential , Disease Susceptibility , Health Education/methods , Humans , IgA Deficiency/immunology , IgG Deficiency/immunology , Immunoglobulins, Intravenous/therapeutic use , Immunologic Deficiency Syndromes/complications , Immunologic Deficiency Syndromes/prevention & control , Infections/therapy
19.
Int J Vitam Nutr Res ; 79(5-6): 328-36, 2009 Sep.
Article in English | MEDLINE | ID: mdl-20533219

ABSTRACT

AIM: Has elimination diet applied in children with food hypersensitivity in infancy any effect on plasma levels of anti-oxidative vitamins and antibodies to oxidized low-density lipoprotein (anti-ox-LDL antibody) titer in these children at their pre-school age?" MATERIAL: The study involved 92 children (3 to 7 years of age) with food hypersensitivity treated in their infancy and early childhood with soy formula or casein hydrolysate, as a milk substitute for at least 12 months. Control group comprised 62 children, who had never been treated with an elimination diet. METHODS: The status of the anti-oxidative system was evaluated by determination of retinol, alpha-tocopherol, and coenzyme Q10 plasma levels by high-performance liquid chromatography (HPLC). The titer of antibodies to oxidized LDL lipoproteins was specified by immunoenzymatic assay. On the basis of the RESULTS, the following CONCLUSIONS have been reached: 1. It was shown that alpha-tocopherol and retinol levels in pre-school children who had received dietary treatment in their infancy, were higher than in the control group. No deficiencies in anti-oxidative vitamins within the control group were found. 2. A type of milk-substitute formula applied in the elimination diet had no effect on the status of the anti-oxidative system in the children examined.


Subject(s)
Antibodies/blood , Food Hypersensitivity/diet therapy , Lipoproteins, LDL/immunology , Milk Substitutes/administration & dosage , Ubiquinone/analogs & derivatives , Vitamin A/blood , alpha-Tocopherol/blood , Child , Child, Preschool , Female , Humans , Male , Random Allocation , Retrospective Studies , Ubiquinone/blood
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