Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “EWAS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 253 records · Page 14Linked to original sources
PubMed2006

[Late spontaneous elimination of HCV-RNA from mononuclear cells derived from peripheral blood in patients with chronic hepatitis C].

THE AIM: To follow persistence of HCV-RNA in PBMC in patients with chronic hepatitis C (CHC). To estimate the influence of this phenomenon on the cellular immune response of peripheral blood lymphocytes. MATERIAL AND METHODS: 8 HCV-RNA in PBMC positive children, with undetectable serum HCV-RNA after antiviral treatment, have been examined every 2-3 years. The amount of IFN-gamma, IL-12 and IL-18 secreted by PBMC obtained from the children after stimulation with phytohemagglutinin (PHA) was measured. RESULTS: Spontaneous elimination of HCV-RNA from PBMC in 2 to 6 years after treatment was found in all children. In two children HCV-RNA detectable both in serum and in PBMC, without recurrence of hepatitis, was found in single examination. PBMC containing HCV-RNA secreted more IFN-gamma than PBMC lacking it (1221 +/- 458 pg/ml vs. 651 +/- 147 pg/ml; p=0.009, similar correlation was revealed with the regard of IL-12: 21.8 +/- 12.3 pg/ml vs. 5,6 +/- 3,3 pg/ml respectively; p=0.009. Production and release of IL-18 were not correlated with HCV-RNA persistence (p=0.12). CONCLUSION: Patients with CHC and persistence of HCV-RNA in PBMC require longitudinal follow-up in the respect of possible reseroconversion. PBMC containing HCV-RNA reveal enhanced cellular immune response, which most probably effects in spontaneous elimination of the virus.

Adolescent↗
PubMed2006

[Epstein-Barr virus (EBV) infections in patients treated with allogenic hematopoietic cells transplantation (allo-HCT)].

OBJECTIVE: Assessment of frequency and clinical course of EBV infection in patients that underwent non-manipulated allo-HCT from matched-related donors. METHODS: Active EBV infection was confirmed based on the presence of anti-EA antibodies (ELISA) and/or viral DNA (nPCR) isolated from peripheral leukocytes. For positive DNA-isolations semi-quantitative analysis were done. Patients were examined repeatedly, the time of monitoring was approximately 6 +/- 5 months. RESULTS: Active EBV infection was confirmed in 27 among 56 examined allo-HCT recipients. Primary infection was detected in 5 patients, in the remaining patients it was probably the result of virus reactivation. In most cases EBV-load was approximately 200 copies per 1 million of leukocytes, 1 patient with lymphoproliferative disorder (PTLD) had 2 million copies. EBV infection was asymptomatic in most cases (17), in 7 cases aminotransferase levels were insignificantly increased, in 2--diarrhea was observed and in 4 patients GvHD was intensified. CONCLUSIONS: In recipients without risk of PTLD, permanent monitoring of the EBV-load has no clinical justification.

Adult↗
PubMed2006

[Mumps--an underestimated disease].

UNLABELLED: In countries, where vaccination against mumps is not obligatory, epidemic increase in morbidity is observed every 4-5 years. In Poland vaccination had not been obligatory until 2004. Year 2004 was an epidemic year--135,178 cases were reported. In 2005 (up to 31.07.05) 64,062 cases were noted and many hospitalizations. The aim was analysis of clinical course of mumps in children hospitalized between 1.01.04 and 31.07.05. MATERIAL AND METHODS: 292 children in age from 11 months to 16 years, 90 (30,8%) girls and 202 (69,2%) boys. Diagnosis of mumps was based on typical clinical picture, history of exposure and amylase activity in serum and urine. 111/292 (38%) children were referred to the hospital with suspicion of meningitis: in 68/292 (23,3%) lymphocytic meningitis was diagnosed (49 boys and 19 girls) and in 43 meningeal signs were not observed. Orchitis was observed in 48/202 (23,76%) boys 12-16 years old, in 3 of them both testes were affected. In 3 boys meningitis and orchitis were diagnosed, in one of them with encephalitic symptoms. 73/292 (25%) children were admitted to the hospital because of emesis and dehydration. 43/292 were hospitalized with suspicion of meningitis. 15 children were admitted because of high fever with poor response for antipyretics. In two children unilateral deafness was observed. In two children edema of subcutaneous tissue of upper chest. In remaining cases mumps was diagnosed in children with hematologic and oncologic diseases, kidney failure, congenital defects. CONCLUSIONS: Complications of mumps and need for hospitalization in children with mumps still are problems of public health. The only method of prophylaxis is accurate vaccination pragramme.

Adolescent↗
PubMedDate not supplied

[Niemann-Pick disease, type A: a case report].

Niemann-Pick disease (NPD) type A is a rapidly developing metabolic illness, with autosomal recessive mode of inheritance. A deficiency of the lysosomal enzyme--acid sphingomyelinase (ASM) produces the clinical phenotype with multiple organ involvement including the central nervous system. Type A NPD is characterized by failure to thrive, hepatosplenomegaly and rapidly progressive neurodegenerative course that leads to death by the age of 2-3 years. The authors report a 3-year-old boy with fatal course of the disease.

Child, Preschool↗
PubMed2006

[Precocious puberty and von Recklinghausen's disease].

Von Recklinghausen's disease belongs to a group of neurocutaneous syndromes and is characterised by skin, nerve and bone abnormalities. We present a case of von Recklinghausen's disease and precocious puberty in 7-year-old boy. At the age of three café au lait spots on the skin and an incranial tumour situated near the optic chiasm--qualified as inoperable--were discovered. At the age of 7 first signs of precocious puberty appeared (pubic hair P3 and enlargement of the testes (15 ml) and penis). Laboratory measurements included: LH 7.5 mIU/ml, FSH 1.1 mIU/ml, testosterone 183 ng/ml, assessment of bone age: 9 years. The response to LHRH stimulation was characteristic for true precocious puberty (LH 15.9 mIU/ml and FSH 1.5 mIU/ml after 30 minutes). The MRI of the brain showed a tumour of the suprasellar region with compression of pituitary stalk. True precocious puberty was diagnosed. Treatment with Diphereline was introduced. At present the boy is 9 years old and has been treated with Diphereline for 16 months. The volume of the testicles has decreased to 7 ml and loss of pubic hair was noted. The MRI does not show any progression in tumour growth. The authors would like to underline the need of close observation of children with von Reclinghausen disease with regard to possibility of uncovering true precocious puberty which is critical for rapid diagnosis and introduction of correct treatment.

Child↗
PubMed2006

Apoptotic neuronal changes enhanced by zinc chelator--TPEN in organotypic rat hippocampal cultures exposed to anoxia.

Both the neurotoxic and neuroprotective effects of zinc have been well established, but the exact mechanism of its dual abilities still remains unclear. It has been shown that zinc deficiency leads to progressive neuronal injury. Therefore a safe zinc concentration levels seem to be necessary in neuronal protection from different noxious factors. This study was undertaken to determine the effect of zinc chelating agent--TPEN on neuronal morphological changes in organotypic hippocampal culture and its effect on post-anoxic changes in this model. The study evidenced that exposition to 15 microM of TPEN induced various stages of apoptotic changes in hippocampal pyramidal neurons and enhanced the anoxia-induced neuronal apoptosis in this model. These results confirmed the hypothesis that manipulations of intracellular pool of zinc by zinc-chelating agents may be a cause of both induction and prevention of apoptotic cell death in various pathological conditions.

Animals↗
PubMed2006

[Assessment of tears secretion after refractive surgery].

PURPOSE: One of the complications of the corneal refractive surgery is a transient disturbance in tears secretion, which can lead to the dry eye syndrome. The aim of the study was to evaluate the tears secretion in patients after PRK, LASEK and LASIK surgery for myopia. MATERIAL AND METHODS: We examined 115 eyes of 69 patients (46 woman and 23 men), mean age 30.82, with myopia and myopic astigmatism, treated with three different refractive procedures. The patients included in this study were divided into three groups: Group I: 35 eyes of 22 patients (15 woman and 7 men) treated with PRK. The mean spherical equivalent of the refractive error was -4.18 dioptres (from -8.75 to -2.0). Group II: 41 eyes of 23 patients (13 woman and 10 men) treated with LASEK. The mean spherical equivalent of the refractive error was -5.73 dioptres (from -12.0 to -2.75). Group III: 39 eyes of 24 patients (18 woman and 6 men) treated with LASIK. The mean spherical equivalent of the refractive error was -7.49 dioptres (from -10.75 to -3.75). In this study the amount of tears secreted was analyzed on the base of Schirmer I test, performed before and after surgery. Test was always performed in the same room, in the morning hours (before noon), with constant temperature and air humidity values. RESULTS: In the PRK group the mean value of Schirmer I test was 20.91 mm before surgery. 14 days after surgery the mean value decreased to 14.09 mm, 1 month after surgery to 11.66 mm. Then increase in tears secretion was observed: 2 months after surgery the mean value of Schirmer I test was 13.94 mm, 3 months after surgery 15.23 mm, and 6 months after surgery 17.4 mm. In the LASEK group the mean value of Schirmer I test was 20.39 mm before surgery. 14 days after surgery the mean value decreased to 15.78 mm, 1 month after surgery to 13.05 mm. Two months after surgery the mean value of Schirmer I test was 15.24 mm, 3 months after surgery 16.17 mm, and 6 months after surgery 18.15 mm. In the LASIK group the mean value of Schirmer I test was 20.72 mm before surgery. 14 days after surgery the mean value decreased to 12.97 mm, 1 month after surgery to 5 mm. 2 months after surgery mean value of Schirmer I test was 12.79 mm, 3 months after surgery 15.05 mm, and 6 months after surgery 17.82 mm. CONCLUSIONS: Corneal refractive surgery causes transient reduction of tears secretion, especially during the first three postoperative months. The tears secretion was reduced most significantly in the LASIK group. In patients treated with PRK and LASEK tears secretion during the postoperative period was comparable with slightly better secretion in the LASEK patients.

Adult↗
PubMed2006

[Myocardial microabscesses detected by endomyocardial biopsy in a patient with dilated cardiomyopathy and celiac disease: a case report].

A case of an 18-year-old male with a one-month history of progressive heart failure and suspected viral myocarditis is presented. Myocardial biopsy revealed mononuclear infiltration and the presence of granulocytes with micro-abscesses. Small bowel biopsy and autoimmunological examinations documented the presence of celiac disease. The patient's condition gradually improved following antibiotics, standard heart failure treatment, dental caries therapy and introduction of gluten-free diet.

Abscess↗
PubMed2004

[Effect of sodium fluoride on the activity of sorbitol dehydrogenase in plasma and liver of rabbits with experimental atherosclerosis].

This study was done in rabbits placed on a low-cholesterol (0.5 g%) and high-cholesterol (2.0 g%) diet to induce experimental atherosclerosis. The intake of fluorine in the form of NaF in water was 3 mg F(-)/kg b.w./24 h. The activity of sorbitol dehydrogenase (SDH) was increased in plasma and decreased in the liver of rabbits on the high-cholesterol diet and in animals simultaneously exposed to NaF in water. Two months of the low-cholesterol diet produced an increase in SDH activity in plasma as a direct consequence of exposure to fluoride in the diet and presumably caused by accumulation of fluoride in the liver.

Animals↗
PubMed2004

[Activities of some enzymes and concentration of ammonia in serum of rats with fluoride hyperglycemia].

The study was done in 30 one-month-old Wistar FL rats divided into one control and two study groups of ten animals each. Hyperglycemia was induced with sodium fluoride in water at a concentration of 50 or 100 mg/L during four months. Control animals received distilled water. We observed significantly (p < 0.05) reduced activities of aspartate aminotransferase (by 22.8%) and malic dehydrogenase (by 10.9%) in the group exposed to 100 mg F(-)/L. No pathological changes were revealed in the pancreas of exposed animals.

Ammonia↗
PubMed2006

Generation of cloned and chimeric embryos/offspring using the new methods of animal biotechnology.

The article summarizes results of studies concerning: 1/ qualitative evaluation of pig nuclear donor cells to somatic cell cloning, 2/ developmental potency of sheep somatic cells to create chimera, 3/ efficient production of chicken chimera. The quality of nuclear donor cells is one of the most important factors to determine the efficiency of somatic cell cloning. Morphological criteria commonly used for qualitative evaluation of somatic cells may be insufficient for practical application in the cloning. Therefore, different types of somatic cells being the source of genomic DNA in the cloning procedure were analyzed on apoptosis with the use of live-DNA or plasma membrane fluorescent markers. It has been found that morphological criteria are a sufficient selection factor for qualitative evaluation of nuclear donor cells to somatic cell cloning. Developmental potencies of sheep somatic cells in embryos and chimeric animals were studied using blastocyst complementation test. Fetal fibroblasts stained with vital fluorescent dye and microsurgically placed in morulae or blastocysts were later identified in embryos cultured in vitro. Transfer of Polish merino blastocysts harbouring Heatherhead fibroblasts to recipient ewes brought about normal births at term. Newly-born animals were of merino appearance with dark patches on their noses, near the mouth and on their clovens. This overt chimerism shows that fetal fibroblasts introduced to sheep morulae/blastocysts revealed full developmental plasticity. To achieve the efficient production of chicken chimeras, the blastodermal cells from embryos of the donor breeds, (Green-legged Partridgelike breed or GPxAraucana) were transferred into the embryos of the recipient breed (White Leghorn), and the effect of chimerism on the selected reproductive and physiological traits of recipients was examined. Using the model which allowed identification of the chimerism at many loci, it has been found that 93.9% of the examined birds were chimeras. The effect of donor cells on the reproduction and physiology of the recipients was evident.

Animals↗
PubMed2006

Influence of heavy metals and 4-nonylphenol on reproductive function in fish.

Many industrial and agricultural chemicals (including heavy metals and alkylphenols) present in the environment have adverse effects on the reproductive function in fish. Three studies were conducted to assess toxicity of these chemicals towards reproduction of freshwater fish. It was shown that heavy metals added to the diets accumulate in brain tissue of carp, and this accumulation results in inhibition of the secretion of noradrenaline and stimulation of the secretion of dopamine in the hypothalamus. These processes results in a disturbance of hormonal equilibrium of the hypothalamo-pituitary system, which can unfavorably influence the efficiency of artificial spawning in fish. Quality of salmonid and sturgeon sperm was impaired after in vitro exposure to heavy metals. The degree of this toxic effect was species-specific. It was demonstrated that sperm motility parameters appeared to be good indicators of adverse effects of heavy metals fish sperm. The protection role of seminal plasma against toxic effects of heavy metals was suggested for salmonid fish. Oral application of 4-nonylphenol (NP) disrupted reproduction in pikeperch. In juvenile fish a decrease in the percentage of males and an increase of intersex fish was observed in relation to dose of NP and time of exposure to this alkylphenol. Exposure of adult males to the NP led to the reduction in fecundity, milt quality and fertility.

Animals↗
PubMed2006

Morphometric and functional abnormalities of kidneys in the progeny of mice fed chocolate during pregnancy and lactation.

Even most commonly consumed beverages like tea, coffee, chocolate and cocoa contain methylxanthines, biogenic amines and polyphenols, among them catechins, that exhibit significant biological activity and might profoundly affect the organism homeostasis. We have previously shown that 400 mg of bitter chocolate or 6 mg of theobromine added to the daily diet of pregnant and afterwards lactating mice affected embryonic angiogenesis and caused bone mineralization disturbances as well as limb shortening in 4-weeks old offspring. The aim of the present study was the morphometric and functional evaluation of kidneys in the 4-weeks old progeny mice fed according to the protocol mentioned above. Progeny from the mice fed chocolate presented considerable morphometric abnormalities in the kidney structure, with the lower number of glomeruli per mm2 and their increased diameter. Moreover, higher serum creatinine concentration was observed in that group of offspring. No morphometric or functional irregularities were found in the progeny of mice fed theobromine. Abnormalities demonstrated in the offspring of mice fed chocolate are not related to its theobromine content. Consequently, identification of active compound(s) responsible for the observed effects is of vital importance.

Abnormalities, Drug-Induced↗
PubMed2006

Dilated cardiomyopathy caused by LMNA mutations. Clinical and morphological studies.

BACKGROUND: Dilated cardiomyopathy (DCM) is familial in about 20-35% of patients. The most frequently encountered mutations associated with DCM are found in LMNA. AIM: To define the frequency of LMNA mutations in a series of consecutive DCM patients and to evaluate the phenotype of mutation carriers. METHODS: We screened the 12 exons of LMNA in a series of 61 Polish patients with DCM diagnosed angiographically, as well as in two DCM families. RESULTS: Two mutations were detected in 5 mutation carriers (D192G in one proband and Y481Stop in one proband and 3 of his offspring), which represents 3.3% (2/61) of the DCM patients. These mutations were absent from 100 controls. The D192G mutation was found in a 26-year-old patient with mild DCM and heart failure leading to death within two years after onset of symptoms. Mild conduction disease was also present. Ultrastructural analysis of the endomyocardial biopsy showed a striking alteration of nuclear morphology. This finding can explain nuclear fragility and is in agreement with the pathophysiological mechanical hypothesis of LMNA mutations. All four Y481Stop mutation-carriers were affected. Three phenotypes were found: in the proband, cardiac dysrhythmia and pacemaker requirement preceded DCM leading to heart transplantation; the proband's 13-year old daughter had conduction disease (2nd degree A-V block) with subtle skeletal muscle involvement documented by immunofluorescence study; ventricular arrhythmia was detected in the proband's son at the age of 11 and in the proband's daughter at the age of 18. Serum creatine kinase was normal in all mutation carriers.

Adolescent↗
PubMed2006

[Influence of different parameters on final height of boys with constitutional delay of growth and puberty].

BACKGROUND: Constitutional delay of growth and puberty (CDGP) is a variant of normal pattern of growth and development with strong familial impact. THE AIM of the study was to assess the influence of birth weight and length, parents' height, boys height and bone age at the age of 14-16 years and mutation age on their final height. MATERIAL AND METHODS: In 69 boys in the mean age of 14.9+/-1.2 years, whose height fell below the 3rd percentile, CDGP was diagnosed. After completion of growth (at the age of 22.6+/-3.5 years) correlations of different parameters with final height were estimated. RESULTS: Statistically significant correlation between birth weight, parents' height, mutation age and final height was observed, but no association between birth length, height and bone age in the age group of 14-16 years and the final height was found. CONCLUSIONS: Adult height of boys with CDGP is directly proportional to birth weight, mutation age and parents' height.

Adolescent↗
PubMed2006

[The prevalence of thyro-peroxidase antibodies and thyroid function in Turner's syndrome].

INTRODUCTION: Higher frequency of autoimmune diseases in patients with Turner's syndrome (TS) compared with the general population has been described. 5 to 10% of cases occur before adolescence. The goal of the study was to determine the prevalence of thyro-peroxidase antibodies (TPO-Ab) in correlation with karyotype, clinical symptoms and hormonal thyroid function in TS patients. MATERIAL AND METHODS: 96 girls with TS, aged 0.5-19.8 years (mean age 12.3+/-5.0) and 58 girls matched for age and BMI (control group) were analysed. The diagnosis of TS was established basing on clinical features and karyotype analysis. 54 had X monosomy, 7--isochromosome, 1--other X chromosome aberration, 11--mosaicism 45,X/46,XX, 3--45,X/47,XXX, 1--45,X/46,XX/47,XXX, 19--mosaicism with structural aberration: 12--45,X/46,X,i(Xq), 2--others, 5--with Y chromosome. In all children TSH, FT(4), FT(3), TPO-Ab, cholesterol, triglyceride levels, physical and ultrasonographic examination were performed. RESULTS: 25% of TS patients were positive for TPO-Ab. This frequency was significantly higher (p=0.0017) than that seen in the control group (5.2%). Positive titers of TPO-Ab were found: in 42% of girls with isochromosome (46,X,i(Xq) and 45,X/46,X,i(Xq)), 22.2% with X monosomy, and 17.4% with other karyotypes. The percentage of positive TPO-Ab titres increased with cumulative age of TS patients. It was 6.7% at the age of 10 years and almost doubled (12.1%) one year later. The next strong increase was observed at the age of 16 (up to 19.1%) and gradually rose to 20 years of age. Mean age of seronegative patients was significantly lower than that of seropositive patients (p=0.018). Only 2 patients manifested symptoms of hyperthyroidism requiring short period of antithyroid treatment. Others did not reveal any clinical features of thyroid dysfunction, although developed thyroid abnormalities such as elevated TSH (11.4%) or goiter (28%). Lack of correlation between TPO-Ab, thyroid hormones and lipid levels was associated with L-thyroxine supplementation, in patients with mildly elevated TSH, prior to the study. CONCLUSIONS: Patients with TS, especially with isochromosome, have antithyroid antibodies more frequently than their co-evals. Therefore, it is important to monitor TPO-Ab from about the age of 10 years even in asymptomatic patients. However, in routine clinical practice, both the thyroid examination and TSH level (even in asymptomatic patients) should be screened yearly for early detection of subclinical hypothyroidism and risk of more severe growth retardation in girls with TS.

Adolescent↗
PubMedDate not supplied

[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].

A 3-year-old girl with developmental delay, dysmorphic features, hypotonia and microcephaly is presented. Fluorescence in situ hybridization (FISH) with subtelomeric probes (Multiprobe Chromoprobe T System) revealed monosomy and trisomy of subtelomeric regions 4p and 21q respectively. Clinical and pedigree data were analyzed and the phenotype -genotype correlation for partial monosomy 4p and trisomy 21q identified in the proband is also presented.

Child, Preschool↗