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In Poland, drotaverine is the most frequently purchased antispasmodic, yet there is a paucity of real-world data on its use. We evaluated the profiles of patients who used drotaverine, and we investigated prescription patterns among general practitioners (GPs). In this cross-sectional, questionnaire-based study, we asked patients who purchased drotaverine about their reasons for using it, its perceived efficacy, satisfaction with treatment, and physician consultation. We also asked GPs about the status of drotaverine in their practice. Among 650 recruited patients, 74% used drotaverine for pain, 67% for cramps, and 19% for abdominal discomfort. Approximately 83% of patients purchased drotaverine without a physician's advice. Patients who used it after a physician's advice were more frequently female, older, and less educated. For all symptoms, mean severity scores decreased by ~5 points (0-10 scale) after the first dose. Ninety-eight percent of patients were satisfied with drotaverine. Among 210 GPs, the percentages prescribing drotaverine were: 42% for irritable bowel syndrome, 89% for cholelithiasis, 60% as supportive therapy for urinary infections, 89% for nephrolithiasis, and 75% for menstruation pain. The GPs perceived drotaverine as more useful, effective, and tolerable than other drugs for abdominal pain or cramps. Drotaverine significantly reduced the severity of all symptoms for which it was taken, and it was perceived as effective and tolerable.
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Milk is an exceptional nutritional product that has been used for many millennia in human nutrition. Milk is a source of many valuable nutrients, including calcium, vitamin B, an especially significant amount of vitamin B2 and fat-soluble vitamins, such as A, D and E. Milk is an attractive product for fortification as it has a high nutritional density in a small volume and a relatively low price. Research shows positive health effects of drinking milk and consuming dairy products. Even more health benefits can be obtained from consuming fortified dairy products. A literature review, current nutritional recommendations, medical recommendations and an analysis of the market situation all recommend introducing milk enriched with minerals in combination with vitamins to the market. This concept corresponds to the current market demand and may supplement the missing and expected range of fortified milk and the correct number of recipients.
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The genetic background and the determinants influencing the disease form, course, and onset of inflammatory bowel disease (IBD) remain unresolved. We aimed to determine the NOD2 gene haplotypes and their relationship with IBD occurrence, clinical presentation, and onset, analyzing a cohort of 578 patients with IBD, including children, and 888 controls. Imaging or endoscopy with a histopathological confirmation was used to diagnose IBD. Genotyping was performed to assess the differences in genotypic and allelic frequencies. Linkage disequilibrium was analyzed, and associations between haplotypes and clinical data were evaluated. We emphasized the prevalence of risk alleles in all analyzed loci in patients with Crohn disease (CD). Interestingly, c.2722G>C and c.3019_3020insC alleles were also overrepresented in ulcerative colitis (UC). T-C-G-C-insC, T-C-G-T-insC, and T-T-G-T-wt haplotypes were correlated with the late-onset form of CD (OR = 23.01, 5.09, and 17.71, respectively), while T-T-G-T-wt and C-C-G-T-wt were prevalent only in CD children (OR = 29.36, and 12.93, respectively; p-value = 0.001). In conclusion, the presence of c.3019_3020insC along with c.802C>T occurred as the most fundamental contributing diplotype in late-onset CD form, while in CD children, the mutual allele in all predisposing haplotypes was the c.2798 + 158T. Identifying the unique, high-impact haplotypes supports further studies of the NOD2 gene, including haplotypic backgrounds.
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The microbiota is a heterogeneous ecosystem consisting of diverse microorganisms unique to an individual, playing a crucial role in maintaining human body homeostasis. The microbiota, as a suggested endocrine organ, is also capable of producing and regulating hormones, playing an important role in food processing, synthesis of vitamins, pathogen displacement, and influencing functions of distant systems and organs. The efficient connections between the brain and intestines and microbiota ensure the maintenance of the digestive tract homeostasis, with the bidirectional brain and gut axis playing an important role in the regulation of digestion. Enteroendocrine cells (EECs) are a fascinating example of highly specified cells scattered throughout the gastrointestinal (GI) tract. They produce and release signaling molecules (hormones), thus modulate homeostatic functions. EECs are believed to be crucial sensors of gut microbiota or/and microbial metabolites, secreting peptide hormones and cytokines in response to them. The diet, microbiota, and EECs are inevitably dependent on one another, thus together (nutrients, microbiota, enterohormones) affect metabolism. This manuscript reviews the role of various components of the brain-gut axis in digestive and absorption processes, as well as the maintenance of digestive tract homeostasis and the consequences of disturbances in the individual components of this axis.
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Eje Cerebro-Intestino , Microbiota , Encéfalo , Células Enteroendocrinas , Tracto Gastrointestinal , Homeostasis , HumanosRESUMEN
RESULTS: We found significantly lower concentrations of total cholesterol, lipoprotein LDL-C, apolipoproteins A1 and B, as well as hCRP in all children with CD. We showed decreased level (<5 ng/mL) of folic acid among 46% of children treated for >5 years. Moreover, we showed significant decrease of folic acid level already after 1 year of a GFD (12 vs. 5.6 ng/mL; p < 0.001). We also found significant negative correlation of z-score body mass index (BMI) with HDL and APOA1 level (r = -0.33; p = 0.015 and r = -0.28; p = 0.038, respectively) and modest positive correlation of z-score BMI with atherogenic factor of total cholesterol-HDL ratio and LDL-HDL ratio (r = 0.40; p = 0.002 and r = 0.36; p = 0.006, respectively). Analysis of physical activity showed an increase in the insulin levels with inactivity (r = 0.36; p = 0.0025). We also found positive correlation of the sleep duration with the adiponectin level (r = 0.41; p = 0.011). CONCLUSIONS: In children with CD treated with a GFD, decreased level of folic acid together with increased BMI, sedentary behavior, and an improper lipid profile may predispose them to atherosclerosis in the long run. This data suggests the need of further studies to determine the need for metabolic cardiovascular risk screening in children with CD.
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Trees of Scots pine (Pinus sylvestris L.) are known for their effective phytoextraction capabilities. The results obtained in this study point to the significant role of substrate composition and chemical characteristics in the phytoextraction potential of this species. A multi-elemental (53 elements) analysis of pines from unpolluted (soil) and polluted (post-flotation tailings) sites was performed using inductively coupled plasma optical emission spectrometry. The analyzed flotation tailings were characterized by alkaline pH (7.19 ± 0.06) and significantly higher conductivity (277.7 ± 2.9 µS cm-1) than the soil (pH = 5.11 ± 0.09; 81.3 ± 4.9 µS cm-1). The two substrates also differed with respect to the contribution of the clay fraction (0% in the unpolluted and 8% in the polluted substrate). The specimens of P. sylvestris growing on flotation tailings had significantly smaller height (381 ± 58 cm) and total aboveground biomass (4.78 ± 0.66 kg) than the trees growing in soil (699 ± 80 cm and 10.24 ± 2.10 kg). The biomass of the trunk, twigs and branches, and needles of the trees from polluted sites was between 40.0% and 48.7% of the biomass of the same organs of the control trees. Generally, the organs (trunk, twigs and branches, needles) of the P. sylvestris specimens from polluted sites had significantly higher concentrations of Au, Al, Ba, Cd, Co, La, Lu, Ni, Pd, Sc, Zn, and lower concentrations of B, Bi, Ca, Ce, Er, In, K, Mg, Na, Nd, P, Pr, Re, Se, Sr, Te than in the control plants, these metals being accumulated effectively in the whole of the aboveground biomass (BCF>1). Although the concentration of the majority of elements was significantly higher in the flotation tailings, significantly higher concentrations of these elements were observed in the tree organs from unpolluted sites, which points to the important role of substrate characteristics in the phytoextraction efficiency of P. sylvestris.
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Biomasa , Pinus sylvestris/química , Pinus sylvestris/metabolismo , Contaminantes del Suelo/química , Contaminantes del Suelo/aislamiento & purificación , Contaminantes del Suelo/farmacocinética , Adsorción , Biodegradación Ambiental , Contaminación Ambiental/análisis , Floculación , Metales/análisis , Metales/aislamiento & purificación , Metales/farmacocinética , Eliminación de Residuos/métodos , Eliminación de Residuos/normas , Suelo/química , Contaminantes del Suelo/análisis , Oligoelementos/química , Oligoelementos/aislamiento & purificación , Oligoelementos/farmacocinética , Árboles/químicaRESUMEN
BACKGROUND/AIMS: The roles of the many bioactive peptides in the pathogenesis of celiac disease remain unclear. To evaluate the serum concentrations of insulin, ghrelin, adiponectin, leptin, leptin receptor, and lipocalin-2 in children with celiac disease who do and do not adhere to a gluten-free diet (GFD, intermittent adherence). METHODS: Prepubertal, pubertal, and adolescent celiac children were included in this study (74 girls and 53 boys on a GFD and 80 girls and 40 boys off of a GFD). RESULTS: Insulin levels in prepubertal (9.01±4.43 µIU/mL), pubertal (10.3±3.62 µIU/mL), and adolescent (10.8±4.73 µIU/mL) girls were higher than those in boys (5.88±2.02, 8.81±2.88, and 8.81±2.26 µIU/mL, respectively) and were neither age-dependent nor influenced by a GFD. Prepubertal children off of a GFD exhibited higher ghrelin levels than prepubertal children on a GFD. Adiponectin levels were not age-, sex- nor GFD-dependent. Adherence to a GFD had no effect on the expression of leptin, leptin receptor, and lipocalin-2. CONCLUSIONS: Adherence to a GFD had no influence on the adiponectin, leptin, leptin receptor, and lipocalin-2 concentrations in celiac children, but a GFD decreased highly elevated ghrelin levels in prepubertal children. Further studies are required to determine whether increased insulin concentrations in girls with celiac disease is suggestive of an increased risk for hyperinsulinemia.
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Enfermedad Celíaca/sangre , Dieta Sin Gluten , Lipocalina 2/sangre , Cooperación del Paciente , Hormonas Peptídicas/sangre , Receptores de Leptina/sangre , Adiponectina/sangre , Adolescente , Enfermedad Celíaca/dietoterapia , Niño , Preescolar , Femenino , Ghrelina/sangre , Humanos , Insulina/sangre , Leptina/sangre , MasculinoRESUMEN
The aim of the study was evaluation of qualitative and quantitative changes in bacterial ecosystem in 109 children with inflammatory bowel diseases. Stools obtained from patients were analysed for selected bacteria and concentration of faecal inflammatory markers (calprotectin, lactoferrin, M2-PK). The number of selected microorganisms depends on the level of clinical activity of disease and is correlated with faecal concentration of inflammatory markers. Differences in microflora disturbance, observed in patients with Crohn's disease and ulcerative colitis, may suggest different causes of development of both pathologies.
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Bacterias/clasificación , Bacterias/aislamiento & purificación , Colitis Ulcerosa/microbiología , Enfermedad de Crohn/microbiología , Adolescente , Niño , Preescolar , Heces/microbiología , Femenino , Hongos/clasificación , Hongos/aislamiento & purificación , Humanos , MasculinoRESUMEN
The aim of the study was evaluation of qualitative and quantitative changes in bacterial ecosystem in 109 children with inflammatory bowel diseases. Stools obtained from patients were analysed for selected bacteria and concentration of faecal inflammatory markers (calprotectin, lactoferrin, M2-PK). The number of selected microorganisms depends on the level of clinical activity of disease and is correlated with faecal concentration of inflammatory markers. Differences in microflora disturbance, observed in patients with Crohn's disease and ulcerative colitis, may suggest different causes of development of both pathologies.
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PURPOSE: The optimization of procedure evaluating the severity of inflammatory bowel diseases (IBD) using non-invasive methods. PATIENTS/METHODS: One hundred and nine children with IBD hospitalized in gastroenterology ward between 2009 and 2011 participated in the study. Activity of the disease was evaluated in each patient. Concentration of three inflammatory markers: dimeric form of tumor pyruvate kinase (M2-PK), calprotectin and lactoferrin was evaluated using immunoenzymatic tests. RESULTS: Existence of a significant correlation between the faecal level of all tested markers and the stage of clinical activity of the disease was demonstrated in children with IBD, both in Crohn's disease (M2-PK p<0.01; calprotectin p=0.005; lactoferrin p<0.01) and in ulcerative colitis group (M2-PK p<0.01; calprotectin p=0.004; lactoferrin p<0.01). A significant difference in the level of markers was found between children with unclassified colitis and the group of patients with ulcerative colitis and Crohn's disease, but there was no difference between Crohn's disease and ulcerative colitis. The increase in the level of one marker correlated with increasing level of other markers (p<0.01). Faecal markers seem to correlate well with majority of indicators of inflammatory condition in blood. CONCLUSIONS: Measuring M2-PK, lactoferrin and calprotectin levels in faeces seem to be a useful indicator of the level of disease activity in children with IBD.
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Biomarcadores/metabolismo , Heces/química , Inflamación/metabolismo , Enfermedades Inflamatorias del Intestino/metabolismo , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactoferrina/metabolismo , Complejo de Antígeno L1 de Leucocito/metabolismo , Masculino , Piruvato Quinasa/metabolismoRESUMEN
Small intestinal bacterial overgrowth (SIBO) is a disease of great clinical and socioeconomic importance caused by an excessive amount of bacteria in the upper alimentary tract. Physiological microbiota are replaced by pathogenic bacteria mainly from large intestine, which is called dysbacteriosis. SIBO disturbs digestion and absorption in the alimentary tract, which seems to cause inflammation. SIBO affects the morphology and function of the digestive system and causes systemic complications (e.g. osteoporosis, macrocytic anemia). Inflammation interferes with gene expression responsible for producing and secreting mucus, therefore, a correlation between SIBO and cystic fibrosis, irritable bowel syndrome and chronic abdominal pain are postulated. All conditions leading to bacterial growth such as congenital and anatomical abnormalities in the digestive tract, motility disorder or immunological deficits are risk factors of SIBO. A typical clinical manifestation of SIBO comprises meteorism, enterectasia, abdominal discomfort and diarrhea. Diagnostic procedures such as glucose, lactulose, methane, 13C mixed triglyceride breath tests are being used in diagnosing SIBO.
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Infecciones Bacterianas/diagnóstico , Intestino Delgado/microbiología , Infecciones Bacterianas/complicaciones , Infecciones Bacterianas/tratamiento farmacológico , Pruebas Respiratorias , HumanosRESUMEN
Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor ß pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases. Both proteins are responsible for processes determining appropriate development of colonic mucosa. The JPS belongs to the group of hamartomatous polyposes. The hamartomatous polyposis syndromes constitute a group of diseases in which manifestations differ slightly and only molecular diagnostics gives the possibility of verifying the clinical diagnosis.
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Cystic fibrosis-associated liver disease (CFLD) affects ca. 30% of patients. The CFLD is now considered the third cause of death, after lung disease and transplantation complications, in CF patients. Diagnostics, clinical assessment and treatment of CFLD have become a real challenge since a striking increase of life expectancy in CF patients has recently been observed. There is no elaborated "gold standard" in the diagnostic process of CFLD; clinical evaluation, laboratory tests, ultrasonography and liver biopsy are used. Clinical forms of CFLD are elevation of serum liver enzymes, hepatic steatosis, focal biliary cirrhosis, multilobular biliary cirrhosis, neonatal cholestasis, cholelithiasis, cholecystitis and micro-gallbladder. In children, CFLD symptoms mostly occur in puberty. Clinical symptoms appear late, when damage of the hepatobiliary system is already advanced. The CFLD is more common in patients with severe mutations of CFTR gene, in whom a complete loss of CFTR protein function is observed. CFLD, together with exocrine pancreatic insufficiency and meconium ileus, is considered a component of the severe CF phenotype. Treatment of CFLD should be complex and conducted by a multispecialist team (gastroenterologist, hepatologist, dietician, radiologist, surgeon). The main aim of the treatment is to prevent liver damage and complications associated with portal hypertension and liver cirrhosis. Ursodeoxycholic acid is used in the treatment of CFLD. There is no treatment of proven long-term efficacy in CFLD. Liver transplantation is a treatment of choice in end-stage liver disease.
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INTRODUCTION AND OBJECTIVE: The presented study assesses levels of specific knowledge of the disease among cystic fibrosis (CF) patients and their families, and evaluates the effectiveness of a targeted, disease specific education programme. MATERIALS AND METHODS: A cross-sectional survey among 462 families with a CF child evaluated their knowledge of the disease. A one year follow up survey among 200 families assessed the effectiveness of an educational programme developed to correct gaps, errors and misconceptions identified in the previously administered survey. Self-administered, comprehensive, 5-domains, 45-item multiple-choice CF Disease Knowledge Questionnaire (CFDKQ) was anonymously completed by 462 subjects. RESULTS: 228 respondents were male (49%), 234 female (51%). The level of disease-specific knowledge in the age groups 0-6 and 7-10 years, was significantly higher than in 11-14 and 15-18 years of age groups (p<0.005). General medical and Genetics/Reproduction knowledge was low in all patients. Significant predictors of patient and parental knowledge were age and domicile. Patients and parents rely heavily on doctors for information about CF (77%). The follow-up survey (CFDKQ) emphasized that special education programmes significantly improved levels of disease specific knowledge (p<0.0001). CONCLUSIONS: If left uncorrected, the misconceptions, gaps and errors in CF knowledge identified in the presented study could result in inadvertent non-adherence to treatment, and impact on the progression and outcome of the disease. Secondly, the results demonstrate the effectiveness of targeted, disease specific information in improving disease knowledge of CF patients and their families, and highlights the value and need for the development of educational programmes for chronically ill patients and their families.
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Fibrosis Quística/psicología , Conocimientos, Actitudes y Práctica en Salud , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Polonia , Encuestas y CuestionariosRESUMEN
Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very expensive trial treatment with BH4 or prolonged BH4-loading procedures. The selection of patients eligible for BH4-therapy by means of genotyping of the PAH gene mutations may be recommended as a complementary approach. A population-wide genotyping study was carried out in 1286 Polish phenyloketonuria-patients. The aim was to estimate the BH4 demand and to cover prospectively the treatment by a National Health Fund. A total of 95 types of mutations were identified. Genetic variants corresponding with probable BH4-responsiveness were found in 28.2% of cases. However, patients with mild or classical phenylketonuria who require continuous treatment accounted for 11.4% of the studied population only. Analysis of the published data shows similar percentage of the "BH4-responsive" variants of a PAH gene in patients from other countries of Eastern Europe. Therefore, it can be concluded, that the proportion of phenylketonuria-patients who could benefit from the use of BH4 reaches approximately 10% in the entire region.
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Biopterinas/análogos & derivados , Mutación/genética , Fenilalanina Hidroxilasa/genética , Fenilcetonurias/tratamiento farmacológico , Biomarcadores Farmacológicos , Biopterinas/administración & dosificación , Genotipo , Humanos , Fenilalanina/deficiencia , Fenilalanina/genética , Fenilcetonurias/genética , PoloniaRESUMEN
Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers' syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of polyps and the risk of cancer development in the alimentary tract and other organs. Individual syndromes of hamartomatous polyposis frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow for differential diagnosis. The correct diagnosis of the disease using molecular methods allows treatment to be implemented earlier and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition for neoplastic transformation.
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BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of cancer in multiple internal organs. Depending on the studied population, its incidence has been estimated to range from 1:200 000 even up to 1:50 000 births. Being an autosomal disease, PJS is caused in most cases by mutations in the STK11 gene. METHODS: The majority of causative DNA changes identified in patients with PJS are small mutations and, therefore, developing a method of their detection is a key aspect in the advancement of genetic diagnostics of PJS patients. We designed 13 pairs of primers, which amplify at the same temperature and enable examination of all coding exons of the STK11 gene by the HRM analysis. RESULTS: In our group of 41 families with PJS small mutations of the STK11 gene were detected in 22 families (54%). In the remaining cases all of the coding exons were sequenced. However, this has not allowed to detect any additional mutations. CONCLUSIONS: The developed methodology is a rapid and cost-effective screening tool for small mutations in PJS patients and makes it possible to detect all the STK11 gene sequence changes occurring in this group.
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Análisis Mutacional de ADN/métodos , Mutación , Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinasas/metabolismo , Quinasas de la Proteína-Quinasa Activada por el AMP , Sustitución de Aminoácidos , Análisis Costo-Beneficio , Cartilla de ADN/genética , Exones , Humanos , Linaje , Proteínas Serina-Treonina Quinasas/genética , Sensibilidad y Especificidad , Factores de TiempoRESUMEN
GOALS: To evaluate the efficacy of Lactobacillus rhamnosus GG (LGG) supplementation in eliminating the gastrointestinal carrier state of vancomycin-resistant enterococci (VRE) in colonized children, and to evaluate the affect of the probiotic on Lactobacillus spp. counts in the gastrointestinal tract. STUDY: A randomized, single-blind, placebo-controlled study. Children (0 to 18 y old) hospitalized at the wards of the children's hospital who were diagnosed with gastrointestinal carrier state of VRE were randomized to group receiving 3 billion colony forming unit of LGG/day or placebo for 21 consecutive days. A total of 61 children completed the study (32 in the treatment group and 29 in the control group). Rectal swabs for VRE and Lactobacillus spp. were collected at baseline, during supplementation at weekly intervals and 1 month after supplementation. Antibiotic supply was controlled throughout the duration of the analysis. RESULTS: A significant difference in the number of children colonized with VRE between the groups was observed at 3 weeks (P = 0.002). The VRE carrier state was lost by 20 of 32 participants in the treatment group and 7 of 29 in the control group. We also observed increased gastrointestinal counts of Lactobacillus spp. in children receiving LGG. A statistically significant difference in the occurrence of bacteria was observed from week 1 onwards, whereas in the aspect of growth intensity from week 2 onwards. CONCLUSIONS: LGG supplementation temporarily eliminates the VRE carrier state and increases gastrointestinal counts of Lactobacillus spp. in children versus placebo.
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Enterococcus/aislamiento & purificación , Lacticaseibacillus rhamnosus , Lactobacillus/aislamiento & purificación , Probióticos/uso terapéutico , Adolescente , Portador Sano , Niño , Preescolar , Recuento de Colonia Microbiana , Enterococcus/efectos de los fármacos , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Método Simple Ciego , Resultado del Tratamiento , Resistencia a la VancomicinaRESUMEN
INTRODUCTION: Cystic fibrosis (CF) patients are at high risk for vitamin K deficiency. Vitamin K supplementation dose has not been clearly defined, and the effects of the supplementation are very ambiguous. Therefore, the aim of the present study was to assess body resources of vitamin K and determine the suitability of the coagulation parameters in the assessment of vitamin K deficiency in patients undergoing supplementation. MATERIALS AND METHODS: The study comprised 30 CF patients aged from 1.5 to 32 years. In all patients, the concentration of the undercarboxylated prothrombin (prothrombin induced by vitamin K deficiency--PIVKA-II), as a marker of vitamin K deficiency, was estimated. For comparison of the diagnostic value of existing methods of assessment of vitamin K status, the coagulation parameters were evaluated (prothrombin ratio and INR). RESULTS: In spite of applied supplementation vitamin K status was not normal in all CF patients. Increased PIVKA-II concentrations (3.3-97 ng/ml) were found in 8 out of 30 (26.7%) patients, when the cut-off value of 2 ng/ml was used. Abnormal PIVKA-II levels corresponded to pathological values of the coagulation parameters only in one patient. In the remaining 7 CF subjects with increased concentration of the undercarboxylated prothrombin, coagulation parameters were normal. CONCLUSIONS: Vitamin K deficiency occurs in CF patients despite applied supplementation. The accurate supplementation dose should be estimated individually and the assessment of its effectiveness requires studies allowing to determine the real body resources of vitamin K. The coagulation parameters are not a good indicator of vitamin K deficiency.
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Biomarcadores/metabolismo , Fibrosis Quística/complicaciones , Precursores de Proteínas/metabolismo , Protrombina/metabolismo , Deficiencia de Vitamina K/etiología , Deficiencia de Vitamina K/metabolismo , Adolescente , Adulto , Coagulación Sanguínea , Niño , Preescolar , Fibrosis Quística/metabolismo , Suplementos Dietéticos , Humanos , Lactante , Deficiencia de Vitamina K/dietoterapia , Adulto JovenRESUMEN
This paper shows analysis of the association of the 802C>T polymorphism of the NOD2/CARD15 gene with the occurrence of the chronic inflammation of the gastric mucosa associated with the Helicobacter pylori infections, development of intestinal metaplasia and dysplasia and, in the result of this, gastric cancer. Genomic DNA samples were extracted from paraffin blocks of gastric mucosal biopsies and from peripheral blood. H. pylori infection was confirmed by histological analysis and urease test. Pyrosequencing of 802C>T polymorphism of the NOD2/CARD15 gene was performed for H. pylori infected patients (131) and population group (100). Analysis of the NOD2/CARD15 gene showed that frequency of the T allele was significantly higher (32.8%) in the group of patients in comparison with the population group (18.1%), with the relative risk of 1.8. In the patient group, the frequency of the CC genotype was 51.1%, CT 32.1% and TT 16.8% (relative risk: 0.7, 1.1 and 4.2, respectively), while in the population group it was 69.0%, 25.7% and 5.3% (relative risk: 1.0, 0.9 and 1.3, respectively). The increasing frequency of the T allele and CT and TT genotypes in the patients with increasingly deeper changes in the gastric mucosa becomes apparent. Our findings suggest that polymorphism 802C>T is associated with changes in gastric mucosa and plays a significant role in the initiation and the progression of carcinogenesis. The number of observed mutations in gastric mucosa correlated with severity of disease.