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1.
Nutrients ; 14(5)2022 Feb 28.
Article in English | MEDLINE | ID: mdl-35268001

ABSTRACT

In the course of inflammatory bowel disease (IBD) malabsorption may lead to a vitamin D deficiency and calcium-phosphate misbalance. However, the reports on the vitamin D status in children with IBD are few and ambiguous. Here, we are presenting complex analyses of multiple factors influencing 25OHD levels in IBD children (N = 62; Crohn's disease n = 34, ulcerative colitis n = 28, mean age 14.4 ± 3.01 years, F/M 23/39) and controls (n = 47, mean age 13.97 ± 2.57, F/M 23/24). Additionally, calcium-phosphate balance parameters and inflammatory markers were obtained. In children with IBD disease, activity and location were defined. Information about therapy, presence of fractures and abdominal surgery were obtained from medical records. All subjects were surveyed on the frequency and extent of exposure to sunlight (forearms, partially legs for at least 30 min a day), physical activity (at least 30 min a day) and diet (3 days diary was analyzed with the program DIETA 5). The mean 25OHD level was higher in IBD patients compared to controls (18.1 ng/mL vs. 15.5 ng/mL; p = 0.03). Only 9.7% of IBD patients and 4.25% of controls had the optimal vitamin D level (30-50 ng/mL). Despite the higher level of 25OHD, young IBD patients showed lower calcium levels in comparison to healthy controls. There was no correlation between the vitamin D level and disease activity or location of gastrointestinal tract lesions. Steroid therapy didn't have much influence on the vitamin D level while vitamin D was supplemented. Regular sun exposure was significantly more common in the control group compared to the IBD group. We found the highest concentration of vitamin D (24.55 ng/mL) with daily sun exposure. There was no significant correlation between the vitamin D level and frequency of physical activity. The analysis of dietary diaries showed low daily intake of vitamin D in both the IBD and the control group (79.63 vs. 85.14 IU/day). Pediatric patients, both IBD and healthy individuals, require regular monitoring of serum vitamin D level and its adequate supplementation.


Subject(s)
Inflammatory Bowel Diseases , Sunlight , Adolescent , Child , Diet , Exercise , Humans , Vitamin D
2.
Medicina (Kaunas) ; 56(6)2020 Jun 17.
Article in English | MEDLINE | ID: mdl-32560402

ABSTRACT

Background and objective: Allergy belongs to a group of mast cell-related disorders and is one of the most common diseases of childhood. It was shown that asthma and allergic rhinitis diminish the risk of various cancers, including colon cancer and acute lymphoblastic leukemia. On the other hand, asthma augments the risk of lung cancer and an increased risk of breast cancer in patients with allergy has been observed. Thus, the relation between allergy and cancer is not straightforward and furthermore, its biological mechanism is unknown. The HTRA (high temperature requirement A) proteases promote apoptosis, may function as tumor suppressors and HTRA1 is known to be released by mast cells. Interleukin-12 (Il-12) is an important cytokine that induces antitumor immune responses and is produced mainly by dendritic cells that co-localize with mast cells in superficial organs. Material and methods: In the present study we have assessed with ELISA plasma levels of the HTRA proteins, Il-12, and of the anti-HTRA autoantibodies in children with allergy (40) and in age matched controls (39). Children are a special population, since they usually do not have comorbidities and take not many drugs the processes we want to observe are not influenced by many other factors. Results: We have found a significant increase of HTRA1, 2 and 3, and of the Il-12 levels in the children with atopy (asthma and allergic rhinitis) compared to controls. Conclusion: Our results suggest that the HTRA1-3 and Il-12 levels might be useful in analyzing the pro- and antioncogenic potential in young atopic patients.


Subject(s)
Asthma/blood , High-Temperature Requirement A Serine Peptidase 1/analysis , Interleukin-12/analysis , Rhinitis, Allergic/blood , Adolescent , Biomarkers/analysis , Biomarkers/blood , Case-Control Studies , Child , Female , High-Temperature Requirement A Serine Peptidase 1/blood , Humans , Interleukin-12/blood , Male , Poland , Prospective Studies
3.
J Cosmet Dermatol ; 19(5): 1155-1160, 2020 May.
Article in English | MEDLINE | ID: mdl-31773874

ABSTRACT

BACKGROUND: Emollients play a key role in the treatment of eczematous lesions and xerosis such as in atopic dermatitis. However, studies that show the actual benefits of cleansers are few and far between. AIMS: This study aims to evaluate the tolerance and efficacy of a high-emollient liquid cleanser (HELC) designed for very dry and atopic-prone skin, in the absence of any additional skin care. The product is a soap-free and fragrance-free liquid cleanser, containing mild surfactants and a ternary system of selected emollients: glycerin, vaseline, and paraffin. METHODS: In-use study was conducted under dermatological, pediatric, and ophthalmological supervision in 50 subjects (infants, children, and adults) with "dry to very dry and atopic-prone" skin. The primary objective of this monocentric, open, and intra-individual study was to assess the dermatological and ophthalmological tolerance of HELC after 21 days of using it at least once a day on the face and body. The secondary objectives were to evaluate its efficacy based on a clinical score (SCORAD), assess its short- and long-term moisturizing effect by measuring hydration rates (Corneometer® ), and ascertain its cosmetic acceptability through a subjective evaluation questionnaire. RESULTS: The study validates the good dermatological and ophthalmological tolerance of HELC. Its efficacy was demonstrated by improvements in the SCORAD and moisturizing scores. Furthermore, the product was very well accepted by the subjects. CONCLUSION: The fragrance-free HELC tested in this study for 21 days on "dry to very dry and atopic-prone skin" improves skin dryness and pruritus while ensuring good tolerance.


Subject(s)
Cosmeceuticals/adverse effects , Dermatitis, Atopic/drug therapy , Emollients/adverse effects , Pruritus/drug therapy , Skin Care/adverse effects , Administration, Cutaneous , Adult , Child , Child, Preschool , Cosmeceuticals/administration & dosage , Dermatitis, Atopic/complications , Emollients/administration & dosage , Female , Humans , Infant , Male , Pruritus/diagnosis , Pruritus/etiology , Severity of Illness Index , Skin/drug effects , Skin Care/methods , Treatment Outcome
4.
Acta Biochim Pol ; 66(4): 445-449, 2019 Nov 14.
Article in English | MEDLINE | ID: mdl-31742967

ABSTRACT

BACKGROUND: Cystic fibrosis (CF) is characterized by malnutrition and chronic inflammation predominantly occurring in lungs. Evidence suggests a relation between inflammatory activity and nutritional status. Proinflammatory cytokines, playing crucial role in pulmonary destruction in CF, are regarded as a component of the pathogenesis of illness-related malnutrition. Chemerin - a novel marker of a crosstalk between nutrition and inflammation, has not been investigated in children with cystic fibrosis. The aim of this study was to determine serum level of chemerin, interleukin-1b (IL-1b), interleukin-6 (IL-6), tumor necrosing factor α (TNF-α) and interleukin-10 (IL-10) and to verify if they correlate with the nutritional status in children with CF. METHODS: The study included 72 pediatric patients with cystic fibrosis. The control group was comprised of 30 healthy children. Nutritional status parameters: Body Mass Index (BMI), fat mass percentage (FM %) and fat free mass percentage (FFM%) have been assessed in all the subjects basing on bioimpedance and anthropometry according to Slaughter. Serum concentrations of chemerin and cytokines were estimated with ELISA. RESULTS: No statistically significant difference in serum chemerin was found between the studied and the control group. We have documented a significantly higher level of IL-1b, IL-6, TNF-α and IL-10 in CF patients when compared to healthy controls. Neither the chemerin nor the cytokine levels correlated with parameters of nutritional status in our cohort. No statistically significant correlation was found between the serum chemerin and the inflammatory cytokines: IL-1b, IL-6, and TNFα. CONCLUSIONS: Our results show that chemerin is not associated with the nutritional status in children with cystic fibrosis. Chemerin has no impact on the levels of IL-1b, IL-6, TNFα in CF patients. IL-1b, IL6, TNFα and also IL10 are upregulated in cystic fibrosis.


Subject(s)
Chemokines/blood , Cystic Fibrosis/blood , Cytokines/blood , Nutritional Status , Biomarkers/blood , Case-Control Studies , Child , Humans , Inflammation/blood , Interleukin-1beta/blood , Interleukin-6/blood , Tumor Necrosis Factor-alpha/blood
5.
Adv Med Sci ; 64(1): 124-130, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30641273

ABSTRACT

The role of mast cell (MC) activity in pathophysiology is complex and challenging and its clinical effects are difficult to predict. Apart from the known role of MCs in basic immunological processes and allergy, underlined is their importance in bone mineralization and in regulation of autoimmune reactions. Mast cell mediators, especially those released from mast cells in degranulation, but also those released constitutively, are important both in metabolic and immunological processes. Mastocytosis is a heterogeneous group of disorders characterized by accumulation of MC in one or more organs. There are scientific data indicating that mastocytosis patients are at increased risk of osteoporosis in the systemic form of the disease and children with cutaneous mastocytosis have a higher rate of hypogammaglobulinemia. Moreover, the origin of osteoporosis in patients with allergy is no longer considered as linked to steroid therapy only, but to the mast cell mediators' activity as well. There are indications that osteoporosis symptoms in this group of patients may develop independently of the cumulative steroids' dose. Thus, the influence of mast cells on metabolic and immunologic processes in allergic patients should be investigated. The assessment of mast cell activity and burden in mastocytosis may be used to guide clinical management of patients with allergy.


Subject(s)
Hypersensitivity/immunology , Hypersensitivity/metabolism , Mast Cells/immunology , Mastocytosis/immunology , Mastocytosis/metabolism , Animals , Calcification, Physiologic , Homeostasis , Humans , Inflammation Mediators/metabolism
6.
Acta Biochim Pol ; 65(3): 471-478, 2018.
Article in English | MEDLINE | ID: mdl-30148508

ABSTRACT

Mast cells play an important role in both, the innate and adaptive immunity, however, clonal proliferation of abnormal mast cells in various organs leads to mastocytosis. A skin variant of the disease, cutaneous mastocytosis (CM) is the most frequent form of mastocytosis in children. HtrA proteases are modulators of important cellular processes, including cell signaling and apoptosis, and are related to development of several pathologies. The above and the observation that mast cells constitutively release the HtrA1 protein, prompted us to investigate a possible involvement of the HtrA proteins in pediatric CM. Levels of the serum autoantibodies (IgG) against the recombinant HtrA proteins (HtrA1-4) in children with CM (n=36) and in healthy controls (n=62) were assayed. Anti-HtrA IgGs were detected using enzyme linked immunosorbent assay (ELISA) and Western-blotting. In the CM sera, levels of the anti-HtrA1 and anti-HtrA3 autoantibodies were significantly increased when compared to the control group, while the HtrA protein levels were comparable. No significant differences in the anti-HtrA2 IgG level were found; for the anti-HtrA4 IgGs lower levels in CM group were revealed. In healthy children, the IgG levels against the HtrA1, -3 and -4 increased significantly with the age of children; no significant changes were observed for the anti-HtrA2 IgG. Our results suggest involvement of the HtrA1 and HtrA3 proteins in pediatric CM; involvement of the HtrA4 protein is possible but needs to be investigated further. In healthy children, the autoantibody levels against HtrA1, -3 and -4, but not against HtrA2, increase with age.


Subject(s)
Mastocytosis, Cutaneous/immunology , Serine Endopeptidases/immunology , Adolescent , Autoantibodies/blood , Autoantibodies/immunology , Blotting, Western , Case-Control Studies , Child , Child, Preschool , Electrophoresis, Polyacrylamide Gel , Enzyme-Linked Immunosorbent Assay , Female , Humans , Immunoglobulin G/blood , Infant , Male , Mastocytosis, Cutaneous/blood , Mastocytosis, Cutaneous/enzymology
7.
Acta Biochim Pol ; 65(1): 119-123, 2018.
Article in English | MEDLINE | ID: mdl-29494710

ABSTRACT

BACKGROUND: Juvenile idiopathic arthritis (JIA) is a chronic, heterogenous inflammatory disease of unclear pathogenesis. JIA is hypothesized to be linked to a defective immune regulation. Anti-inflammatory cytokines belong to the best known regulatory factors. T-regulatory cells are a crucial cellular component of immune tolerance. One of their functions is synthesis of interleukin 10 (IL-10) and transforming growth factor beta1 (TGF-ß1). The aim of this study was to determine the proportion of T-regulatory cells (CD4+CD25highFOXP3+) in peripheral blood, and serum levels of TGF-ß1 and IL-10 in patients with JIA. METHODS: The study included 25 patients with newly diagnosed JIA: oligoarthritis (n=17) and polyarthritis (n=8). The control group was comprised of 17 healthy children. CD4+CD25highFOXP3+ T cells in peripheral blood were quantified by means of three-color flow cytometry. Serum concentrations of TGF-ß1 and IL-10 were estimated with ELISA. RESULTS: The proportion of peripheral CD4+CD25highFOXP3+ cells in patients with JIA was significantly higher than in the controls (p=0.04). The two groups did not differ significantly in terms of their TGF-ß1 and IL-10 concentrations. CONCLUSIONS: At the time of diagnosis, children with JIA presented with an elevated proportion of T-regulatory cells (CD4+CD25highFOXP3+) in peripheral blood. Anti-inflammatory cytokines, IL-10 and TGF-ß1, are not upregulated in the serum of patients with JIA, and therefore should not be considered as biomarkers of this condition.


Subject(s)
Arthritis, Juvenile/blood , Interleukin-10/blood , T-Lymphocytes, Regulatory/pathology , Transforming Growth Factor beta1/blood , Adolescent , Arthritis, Juvenile/diagnosis , Biomarkers , Case-Control Studies , Cell Count , Child , Female , Humans , Male
8.
Acta Biochim Pol ; 64(2): 351-356, 2017.
Article in English | MEDLINE | ID: mdl-28399191

ABSTRACT

OBJECTIVE: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. STUDY DESIGN: The study was performed at a single centre - at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38-42 weeks) were included in the study. Fluorescent molecular probes were used for UGT1A1 promoter variation analysis. The presence of UGT1A1*28 polymorphism was detected with a dual-probe system, and UGT1A1*60 with a SimpleProbe™. RESULT: Homozygous UGT1A1*28 and UGT1A1*60 genotypes were detected in 14.6% and 20.5% of the newborns, respectively. Homozygous (G/G) genotypes of UGT1A1*60 polymorphism were found in all of the UGT1A1*28 (i.e. (TA)7/(TA)7) homozygotes. More than 80% (55/66) of the children with "wild" type UGT1A1*28 genotype (where no polymorphism was detected) (i.e. (TA)6/(TA)6) carried the "wild" (T/T) genotype of UGT1A1*60 as well. The UGT1A1*28 polymorphism was detected more often among neonates with elevated bilirubin. Hyperbilirubinemia was diagnosed more frequently in boys. CONCLUSION: Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia.


Subject(s)
Genetic Association Studies , Genetic Predisposition to Disease , Glucuronosyltransferase/genetics , Hyperbilirubinemia, Neonatal/genetics , Child , Female , Genotype , Humans , Hyperbilirubinemia, Neonatal/pathology , Infant, Newborn , Poland , Polymorphism, Single Nucleotide , Pregnancy , Sex Characteristics
9.
Acta Biochim Pol ; 62(3): 541-5, 2015.
Article in English | MEDLINE | ID: mdl-26339799

ABSTRACT

The aim of this study was to analyze the usefulness of fecal lactoferrin in the diagnosis and monitoring of inflammatory bowel disease (IBD) in children. The study included 52 children with IBD (24 with Crohn's disease and 28 with ulcerative colitis) aged between 0.92 and 18 years, and 41 IBD-free controls of similar age. Fecal concentration of lactoferrin was determined with a quantitative immunoenzymatic test. Fecal concentration of lactoferrin in children with IBD was significantly higher than in the controls. The cut-off value of fecal lactoferrin concentration optimally distinguishing between the children with IBD and the controls was identified as 13 µg/g. The sensitivity and specificity of this cut-off value equaled 80.7% and 92.7%, respectively, and its positive and negative prognostic values were 96.8% and 63.3%, respectively. Patients diagnosed with moderate Crohn's disease had significantly higher fecal concentrations of lactoferrin than children with the mild or inactive disease. Similarly, children with moderate ulcerative colitis showed significantly higher fecal concentrations of lactoferrin than individuals with the mild condition. No significant relationship was found between the fecal concentration of lactoferrin and the severity of endoscopic lesions. Patients with IBD and a positive result of fecal occult blood test were characterized by significantly higher concentrations of lactoferrin than the individuals with IBD and a negative result of this test. In conclusion, fecal concentration of lactoferrin seems to be a useful parameter for diagnosis and monitoring of IBD in children.


Subject(s)
Feces/chemistry , Inflammation/metabolism , Inflammatory Bowel Diseases/metabolism , Intestinal Mucosa/metabolism , Lactoferrin/metabolism , Adolescent , Biomarkers/metabolism , Child , Child, Preschool , Colitis, Ulcerative/metabolism , Crohn Disease/metabolism , Female , Humans , Immunoenzyme Techniques , Infant , Male , Predictive Value of Tests , Prognosis
10.
Acta Biochim Pol ; 62(1): 167-8, 2015.
Article in English | MEDLINE | ID: mdl-25669159

ABSTRACT

The spinal muscular atrophy is a rare autosomal recessive genetic disease characterized by the progressive loss of muscular strength. In its natural course the disease leads to death. Diabetes mellitus type 1 is an autoimmune metabolic disorder characterized by the disturbed insulin synthesis. This is a case report of an 8-year-old girl suffering from Werdnig Hoffman disease in whom DM1 was diagnosed. The unspecific clinical manifestation and diagnostic difficulties are presented in this paper. To the authors' knowledge, this is the first publication concerning the co-existence of these two medical conditions.


Subject(s)
Diabetes Mellitus, Type 2/complications , Muscular Atrophy, Spinal/complications , Child , Female , Humans
11.
Acta Biochim Pol ; 62(1): 133-7, 2015.
Article in English | MEDLINE | ID: mdl-25654362

ABSTRACT

UNLABELLED: Neopterin (NPT) (6-D-erythro-trihydroxypropyl pteridin) is one of the indicators of the immune system activity. Elevated neopterin concentration occurs in diseases mostly involving stimulation of cellular immunity. The determination of neopterin concentration, usually in blood serum and urine but also in many other bodily fluids, has already been applied in many areas of medicine, such as transfusiology, transplantology, oncology, infectious diseases and autoimmunological diseases. OBJECTIVE: The aim of this work is to evaluate clinical usefulness of serum neopterin determination in children with urinary tract infections of confirmed bacterial etiology. MATERIAL: The study involved 56 children with bacterial urinary tract infections - patients of the Clinic of Paediatrics, Paediatric Gastroenterology, Hepatology & Paediatric Nutrition of Medical University of Gdansk in the years 2012-2013. The control group included 105 healthy children. RESULTS: The values of NPT concentration in blood serum obtained in the group of children with urinary tract infections did not significantly differ from the values obtained in the control group. CONCLUSIONS: The determination of neopterin concentration in children with bacterial urinary tract infections is not a clinically useful parameter.


Subject(s)
Bacterial Infections/blood , Neopterin/blood , Case-Control Studies , Child , Female , Humans , Male
12.
Acta Biochim Pol ; 61(2): 281-4, 2014.
Article in English | MEDLINE | ID: mdl-24904927

ABSTRACT

Autoimmune diseases due to probable common pathogenesis tend to coexist in some patients. Complex clinical presentation with diverse timing of particular symptoms and sophisticated treatment with numerous side effects, may cause diagnostic difficulties, especially in children. The paper presents diagnostic difficulties and pitfalls in a child with Graves' disease, celiac disease and liver function abnormalities.


Subject(s)
Celiac Disease/diagnosis , Diet, Gluten-Free , Graves Disease/diagnosis , Hepatomegaly/diagnosis , Autoantibodies/blood , Celiac Disease/blood , Celiac Disease/complications , Celiac Disease/diet therapy , Child , Female , Graves Disease/blood , Graves Disease/complications , Graves Disease/diet therapy , Hepatomegaly/blood , Hepatomegaly/complications , Hepatomegaly/diet therapy , Humans , Liver/metabolism , Liver/pathology , Treatment Outcome
13.
Int J Colorectal Dis ; 28(2): 165-72, 2013 Feb.
Article in English | MEDLINE | ID: mdl-22584294

ABSTRACT

PURPOSE: Transforming growth factor ß1 (TGF-ß1) plays a role in cell proliferation and differentiation, and it can modulate immune response. In this work, we asked whether levels of either TGF-ß1 or mRNA of the corresponding gene in plasma or tissue can be useful in diagnosing and/or monitoring of the clinical course of inflammatory bowel diseases (IBD). METHODS: The study group consisted of 104 pediatric patients with IBD: 36 with Crohn's disease (CD) and 68 with ulcerative colitis (UC); 42 children represented the control group. TGF-ß1 levels in plasma and intestinal mucosa were estimated by ELISA and immunohistochemistry (IHC), respectively. Levels of TGF-ß1 mRNA were determined by reverse transcription and real-time PCR. RESULTS: In patients with IBD, and in subgroups with CD and UC, no significant differences in the TGF-ß1 level in plasma and tissue were found relative to the control group. These variables were not dependent on the stage of the disease, its activity or severity of endoscopic and histopathological findings. TGF-ß1 mRNA levels were significantly higher in tissue samples withdrawn during the relapse of the disease than in those taken during the remission or in the control group. However, no correlation between TGF-ß1 plasma levels and TGF-ß1 mRNA amount in the intestinal mucosa was observed. CONCLUSIONS: The TGF-ß1 mRNA level, but not the amount of the gene product, was significantly increased in the pathologically changed tissue during the relapse of IBD. We suggest that this parameter might be considered as a potential prognostic value when assessing IBD in children.


Subject(s)
Inflammatory Bowel Diseases/diagnosis , Inflammatory Bowel Diseases/genetics , Transforming Growth Factor beta1/genetics , Adolescent , Case-Control Studies , Child , Child, Preschool , Female , Humans , Infant , Inflammatory Bowel Diseases/blood , Intestinal Mucosa/metabolism , Intestines/pathology , Male , Prognosis , RNA, Messenger/genetics , RNA, Messenger/metabolism , Transforming Growth Factor beta1/blood , Transforming Growth Factor beta1/metabolism
14.
Acta Biochim Pol ; 60(4): 683-8, 2013.
Article in English | MEDLINE | ID: mdl-24432317

ABSTRACT

Previously published studies on levels of the transforming growth factor-ß1 (TGF-ß1) protein and mRNA of the corresponding gene in patients suffering from inflammatory bowel diseases (IBD) gave varying results, leading to contradictory conclusions. To solve the contradictions, we aimed to assess longitudinally TGF-ß1 protein and mRNA levels at different stages of the disease in children suffering from IBD. The study group consisted of 19 pediatric patients with IBD at the age between 3.5 and 18.4 years. The control group consisted of 42 children aged between 2.0 and 18.0 years. The plasma TGF-ß1 concentration was measured with ELISA. mRNA levels of the TGF-ß1 gene isolated from samples of the intestinal tissue were assessed by reverse transcription and real-time PCR. Levels of TGF-ß1 protein in plasma and corresponding mRNA in intestinal tissue were significantly higher in IBD patients than in controls. TGF-ß1 and corresponding transcripts were also more abundant in plasma and intestinal tissue, respectively, in patients at the active stage of the disease than during remission. In every single IBD patient, plasma TGF-ß1 level and mRNA level in intestinal tissue was higher at the active stage of the disease than during remission. Levels of TGF-ß1 and corresponding mRNA are elevated during the active stage of IBD but not during the remission. Longitudinal assessment of this cytokine in a single patient may help to monitor the clinical course of IBD.


Subject(s)
Inflammatory Bowel Diseases/genetics , RNA, Messenger/genetics , Transforming Growth Factor beta1/genetics , Adolescent , Child , Child, Preschool , Female , Humans , Inflammatory Bowel Diseases/blood , Inflammatory Bowel Diseases/pathology , Longitudinal Studies , Male , RNA, Messenger/blood , Transforming Growth Factor beta1/blood
15.
Acta Biochim Pol ; 58(4): 641-4, 2011.
Article in English | MEDLINE | ID: mdl-22140658

ABSTRACT

Transforming growth factor ß1 (TGF-ß1) is a cytokine affecting cell proliferation and development, which also has an immunomodulatory activity. Correlations between polymorphisms of the TGF-ß1 gene and clinical parameters of inflammatory bowel disease (IBD) were reported previously in adults. Here, we tested whether such correlations occur in pediatric patients suffering from IBD. One hundred and four pediatric IBD patients were involved in this study. Among them, 36 were diagnosed with Crohn's Disease (CD) and 68 were diagnosed with ulcerative colitis (UC). The control group consisted of 103 children, in which IBD was excluded. TGF-ß1 levels were determined in plasma and intestinal mucosa samples. The presence of the TGF ß1 protein and the amount of TGF ß1 mRNA were estimated in intestinal mucosa by immunohistochemistry and reverse transcription Real-Time PCR, respectively. Four common polymorphisms of the TGF-ß1 gene were investigated: -800G/A, -509C/T, 869T/C and 915G/C. No significant correlation between TGF-ß1 genotypes and (i) TGF-ß1 levels in plasma and tissue samples, (ii) TGF-ß1 gene expression efficiency in intestinal mucosa, (iii) IBD clinical parameters and (iv) inflammatory activity could be detected in children suffering from IBD. We conclude that, contrary to previous suggestions, the four common polymorphisms of the TGF-ß1 gene do not influence the susceptibility to or clinical parameters of IBD in the tested population of children.


Subject(s)
Inflammatory Bowel Diseases/genetics , Inflammatory Bowel Diseases/pathology , Polymorphism, Genetic , Transforming Growth Factor beta1/genetics , Adolescent , Case-Control Studies , Child , Child, Preschool , Colitis, Ulcerative/diagnosis , Crohn Disease/diagnosis , Female , Gene Frequency , Genetic Testing , Genotype , Humans , Immunohistochemistry , Infant , Intestinal Mucosa/metabolism , Intestinal Mucosa/pathology , Male , RNA, Messenger/analysis , RNA, Messenger/genetics , RNA, Messenger/metabolism , Reverse Transcriptase Polymerase Chain Reaction , Transforming Growth Factor beta1/blood , Transforming Growth Factor beta1/metabolism
16.
Acta Biochim Pol ; 58(2): 251-4, 2011.
Article in English | MEDLINE | ID: mdl-21633730

ABSTRACT

Among possible causes of chronic hepatitis in adolescents most common are infections, autoimmune disorders and metabolic diseases. Thus, diagnostic procedures should be multidirectional. This study reports diagnosis and treatment difficulties in an 18-year-old male patient with hereditary hemochromatosis (HH), ulcerative colitis (UC), chronic hepatitis B (CHB) and Gilbert syndrome. The presented case illustrates problems in diagnostics related to the presence of numerous disease conditions in one patient. It should be taken into consideration that these diseases coexisting in one patient can mutually affect their symptoms creating specific diagnostic difficulties.


Subject(s)
Colitis, Ulcerative/diagnosis , Gilbert Disease/diagnosis , Hemochromatosis/diagnosis , Hepatitis B, Chronic/diagnosis , Adolescent , Antiviral Agents/therapeutic use , Azathioprine/therapeutic use , Colitis, Ulcerative/complications , Colitis, Ulcerative/drug therapy , Gilbert Disease/complications , Gilbert Disease/genetics , Glucuronosyltransferase/genetics , Hemochromatosis/complications , Hemochromatosis/genetics , Hemochromatosis Protein , Hepatitis B, Chronic/complications , Hepatitis B, Chronic/drug therapy , Histocompatibility Antigens Class I/genetics , Humans , Immunosuppressive Agents/therapeutic use , Male , Membrane Proteins/genetics , Mutagenesis, Insertional , Nucleosides/therapeutic use , Polymorphism, Genetic , TATA Box/genetics
17.
Med Sci Monit ; 17(4): CR196-202, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21455105

ABSTRACT

BACKGROUND: Mucopolysaccharidoses (MPS) are inherited metabolic disorders caused by deficiencies in enzymes involved in degradation of glycosaminoglycans. MPS type III (Sanfilippo disease) is clinically characterized mainly by progressive and severe behavioral disturbances and cognitive dysfunction. Recent 1-year experimental treatment of 10 patients with a genistein (4', 5, 7-trihydroxyisoflavone)-rich extract resulted in improvement of tested parameters, including cognitive and behavioral functions. MATERIAL/METHODS: Eight pediatric patients with Sanfilippo disease were enrolled into the study. The modified version of the Brief Assessment Examination was used to assess cognitive functions. Moreover, 18 different parameters concerning changes in conditions of patients were assessed by their parents. RESULTS: During the first year of the treatment, an improvement of cognitive functions in 7 patients and stabilization in 1 patient were assessed, while after the third year (2-year follow-up) further improvement was observed in 2 patients, stabilization in 3 patients and some deterioration in 3 patients. Monitoring of general and behavioral symptoms revealed improvement in all patients after the first year of the treatment, further improvement in 5 patients, and deterioration in 3 patients during the next 2 years. CONCLUSIONS: We conclude that the treatment of Sanfilippo patients with a genistein-rich soy isoflavone extract (called gene expression-targeted isoflavone therapy [GET IT]) may be effective in either inhibition (in some patients) or slowing down (in other patients) of behavioral and cognitive problems over a longer period. An increased dose of genistein may improve the efficacy of the treatment.


Subject(s)
Cognition/physiology , Genistein/therapeutic use , Mucopolysaccharidosis III/drug therapy , Mucopolysaccharidosis III/physiopathology , Phytotherapy , Plant Extracts/therapeutic use , Adolescent , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Male , Parents
18.
Przegl Lek ; 68(9): 606-9, 2011.
Article in Polish | MEDLINE | ID: mdl-22335010

ABSTRACT

UNLABELLED: Smoking cigarettes is very common among lactating women. The objective evaluation of an exposure to cigarette smoke is needed, as cotinine concentration. On many research a questionnaire is the only determinant of fact and intensification of smoking. The aim of this research was to establish a reliability of the questionnaire concerning cigarette smoking among lactating mothers by analyzing cotinine/creatinine ratio. MATERIAL AND METHODS: In 51 lactating mothers (participants of the research on oxidative stress in Obstetrics Departments on 3rd day post partum) during check-up visit, on 30th day post partum a questionnaire concerning smoking cigarettes before, during pregnancy and after childbirth, and amount of cigarettes smoked was made. Samples of matutinal urine were deep freezed in - 700 till cotinine was evaluated immunoenzymatically. Women were divided into groups: I of non-smokers (32 women), II of smokers (19 women). Statistical analysis was made by means of unparametric test U Mann-Whitney. RESULTS: Average cotinine/creatinine ratio was 33,8 ng/mg in group I; 1275.9 ng/mg in group II. Specificity and sensitivity of data earned by virtue of statement of correspondents was 81% and 89%. Test of cotinine concentration in urine demonstrated 100% sensitivity and 94% specificity compared to the cotinine/creatinine ratio. Directly proportional relationship was stated between amount of cigarette smoked and concentration of cotinine in urine (55.9 ng/ ml cotinine/cigarette). CONCLUSIONS: A questionnaire should not be the only method evaluating smoking among lactating women. The concentration of cotinine shows slightly lower specificity than cotinine/creatinine ratio. Both tests can be dealt equivalent.


Subject(s)
Lactation , Maternal Exposure/statistics & numerical data , Pregnancy Complications/epidemiology , Self Report/standards , Smoking/epidemiology , Tobacco Smoke Pollution/statistics & numerical data , Adult , Cotinine/urine , Creatinine/urine , Female , Humans , Poland/epidemiology , Pregnancy , Pregnancy Complications/urine , Reproducibility of Results , Sensitivity and Specificity , Smoking/urine , Surveys and Questionnaires
19.
Folia Neuropathol ; 49(4): 271-81, 2011.
Article in English | MEDLINE | ID: mdl-22212917

ABSTRACT

In contrast to the occurrence of brain metastases advanced malignant tumours in adult cancer patients, the dissemination of solid tumours to the brains of paediatric cancer patients is very uncommon. We present a neuro-pathological and clinical study of a group of children and adolescents with brain metastases (BM) from extracranial solid malignancies. The analysed patients were diagnosed with soft tissue sarcomas (three), germ cell tumours (three), or osteosarcoma, neuroblastoma, clear cell sarcoma of the kidney, or pleuropulmonary blastoma (one each). In our series, BM frequently coexisted with pulmonary metastases. Three different metastatic patterns were discernible: a solitary tumour, multiple lesions and diffuse parenchymal dissemination. Two cases showed haemorrhagic presentation. Most of the children died due to BM progression, while children with germ cell tumours showed the best prognosis. The histopathological pictures of BM can be different from the primary tumour, showing dedifferentiation or a diverse neoplastic component. The autopsy examination can still be helpful in the final diagnosis of certain cases with atypical clinical presentations.


Subject(s)
Brain Neoplasms/secondary , Neoplasms, Germ Cell and Embryonal/secondary , Neuroblastoma/secondary , Sarcoma/secondary , Adolescent , Child , Disease Progression , Female , Humans , Male , Prognosis , Retrospective Studies
20.
Med Wieku Rozwoj ; 14(1): 37-41, 2010.
Article in Polish | MEDLINE | ID: mdl-20608427

ABSTRACT

Many reports from recent years indicate the important role of fecal markers of inflammation. These are proteins produced by neutrocytes, monocytes and hepatocytes. The concentration of these proteins increases in the process of inflammation. These parameters are very sensitive because changes in their levels particularly reflect inflammatory conditions in the intestines. In this study we discuss the role of measurements of proteins such as: alpha 1-antitrypsin, myeloperoxydase, lactoferrin, calprotectin, S100A12 protein and pyruvate kinase in stool. The largest number of studies indicating the usefulness in the diagnosis and monitoring the course of inflammatory bowel diseases concerns stool lactoferrin and calprotectin.


Subject(s)
Feces/chemistry , Inflammation Mediators/analysis , Inflammation/diagnosis , Animals , Biomarkers/analysis , Humans , Lactoferrin/analysis , Leukocyte L1 Antigen Complex/analysis , Peroxidase/analysis , Pyruvate Kinase/analysis , S100 Proteins/analysis , alpha 1-Antitrypsin/analysis
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