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 271 records · Page 15Linked to original sources
PubMedDate not supplied

[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].

INTRODUCTION: In about 6% of individuals with intellectual disability, dysmorphic features and congenital anomalies, an abnormal, apparently balanced karyotype is found. These abnormalities may result from abnormal expression of genes at the breakpoints, presence of a submicroscopic deletion, or other unbalanced chromosome aberrations. In such cases, the detailed analysis of breakpoints of balanced chromosome rearrangements may help with identification of genes responsible for patient's clinical features. AIM OF WORK: Was the explanation of causes of abnormal phenotype in the carriers with abnormal but balanced karyotype. MATERIAL AND METHODS: Cytogenetic-molecular analysis performed in nine patients with mental retardation, dysmorphic features and congenital anomalies. Studies with subtelomeric probes, high resolution comparative genomic hybridization (HR-CGH) and fluorescence in situ hybridization (FISH) with region-specific BAC clones were performed. RESULTS: Seventeen chromosome breakpoint regions were narrowed to 200-400 kb. In one case, an 0.5-Mb submicroscopic deletion associated with more complex rearrangement has been found. Mapping of the breakpoints and information obtained from the UCSC Human Genome Browser data base enabled identification of 46 genes in these regions. Twelve genes, that may have been disrupted as a result of the patients' chromosomal rearrangement, were found. At four different breakpoints the identified genes (NRCAM, NPTX1, NMT1, MAPT, HDAC5 and MEF2C) may be due to a position effect. CONCLUSIONS: The results confirm earlier suggestions concerning reasons of abnormal phenotype in the patients with balanced chromosome rearrangements and present the value of detailed analysis of the genome in such cases.

Abnormalities, Multiple↗
PubMed2006

Astroglial alterations in amyotrophic lateral sclerosis (ALS) model of slow glutamate excitotoxicity in vitro.

Chronic excitotoxicity mediated through defective glial and/or neuronal glutamate transport may contribute to several neurodegenerative diseases including amyotrophic lateral sclerosis (ALS). This study was performed to determine the ultrastructural characteristics of astroglial changes concomitant with motor neuron (MN) degeneration in a model of slow excitotoxicity in vitro. The study was performed on organotypic cultures of rat lumbar spinal cord subjected to the glutamate uptake blockers threohydroxyaspartate (THA) and L-trans-pyrrolidine-2,4-dicarboxylate (PDC). The chronic inhibition of glutamate transport by THA and PDC resulted in slow degeneration of the rat's MNs accompanied by distinct glial changes predominantly involving protoplasmic astrocytes. The presence of irregular vacuoles and vesicles in the astroglial cells was frequently observed. Occasionally the astrocytes exhibited proliferation and accumulation of abnormal profiles of smooth endoplasmic reticulum. In 3 weeks there were no signs of increased production of glial filaments in the protoplasmic astrocytes. The results evidenced the coexistence of neuronal degeneration and astroglial abnormalities in an ALS model in vitro and suggested an active role of astrocytes contributing to the induction and propagation of MN degeneration.

Amyotrophic Lateral Sclerosis↗
PubMedDate not supplied

Immobility stress induces depression-like behavior in the forced swim test in mice: effect of magnesium and imipramine.

Previously, we demonstrated antidepressant-like effect of magnesium (Mg) in the forced swim test (FST). Moreover, the joint administration of Mg and imipramine (IMI) at ineffective doses per se, resulted in a potent reduction in the immobility time in this test. In the present study, we examined the effect of immobility stress (IS), and Mg and/or IMI administration on FST behavior. IS induced enhancement of immobility time, which was reversed by Mg or IMI at doses ineffective in non-stressed mice (10 mg/kg and 15 mg/kg, respectively). The joint administration of Mg and IMI was effective in both IS and non-stressed animals in FST. IS did not significantly alter locomotor activity, while IMI or Mg + IMI treatment in IS mice reduced this activity. We also measured serum and brain Mg, IMI and its metabolite desipramine (DMI) concentration in mice subjected to FST and injected with Mg + IMI, both restrained and non-restrained. In the present study we demonstrated a significant increase (by 68%) in the brain IMI and a slight, non-significant reduction in DMI concentration in IS + Mg + IMI + FST vs. Mg + IMI + FST groups, which might indicate the reduction in brain IMI metabolism. The IS-induced reduction in brain IMI metabolism did not participate in the activity in FST, since no differences in such activity were noticed between IS + Mg + IMI + FST and Mg + IMI + FST groups. The present data suggest that IS-induced increase in immobility time in FST is more sensitive for detection antidepressant-like activity. However, further studies are needed to examine the effect of other antidepressants in such an experimental paradigm.

Animals↗
PubMed2006

[Reversible dilated cardiomyopathy in a patient with acute, advanced heart failure and intense endothelial inflammatory reaction in endomyocardial biopsy--a case report].

Inflammatory response of the endothelium has been increasingly recognized in the aetiopathogenesis of sporadic dilated cardiomyopathy (DCM). It has been shown that up to 2/3 of patients with DCM have immunohistological evidence of enhanced activation of the endothelium. We present a case of a middle-aged patient with a history of hypertension and hyperlipidaemia who developed sudden significant left ventricular dysfunction following flu-like syndrome. Endomyocardial biopsy revealed no myocarditis, but immunohistological features of endothelial activation were present. Additionally, increasing titers of IgG antibodies against PvB19 were observed. During 18 months of standard heart failure treatment along with statin therapy, we observed a significant recovery of left ventricular systolic function, and in this way, reversible dilated cardiomyopathy.

Biopsy↗
PubMedDate not supplied

[Cases of homicide-suicide (post-aggression suicide) in the material of the Chair and Department of Forensic Medicine in Bydgoszcz].

Two cases of homicide-suicide (post-aggression suicide) are presented in this report. In the first case, a young man had killed his wife and mother-in-law inflicting numerous stab wounds to the chest and neck of both victims, subsequently strangled his daughter with his bare hands and then committed suicide by cutting his veins. In the second instance, a woman had killed one of her sons and tried to murder another by giving both victims psychostimulants and medicines against worms, as well as stabbing them repeatedly. She then committed suicide by hanging.

Adult↗
PubMed2006

[Cathether related blood stream infection in ICU patients with prolonged central venous catheterisation--cause and prevention].

UNLABELLED: Colonization of the tip of the intravenous catheter is often observed in the ICU practice and can be the source of dangerous bacteriemia (CRBSI--catheter related bloodstream bacteraemia) and sepsis with multiorgan failure. There are many cases conected with bacterial colonization of the tip of the catheter in the ICU practice, which could be the source of dangerous bacteriemia--CRBSI (catheter related bloodstream bacteriemia) and sepsis with organs failure. MATERIAL AND METHODS: 105 patients with sepsis were examined, which clinical state pointed, that CVC was the source of infection. We removed the CVC in this patient, and its tip and patient's blood were examined microbiologically. In the case of positive result, the antibiogram was made. OBJECTIVE: Evaluation of colonisation and infections of central venous catheters and catheter related blood stream infections (CRBSI) in general ICU patients' and with identification of most frequent microorganisms and their antibiotic sensibility. Results. After examining of 105 samples in 37 (35, 24%) cases we did not culture bacteria. From the rest of 68 (64, 76%) samples we cultured 110 bacterial colonies. 8 of them were admitted to be contaminated samples. 60 tips of the catheter were used to proper analysis from which we isolated 102 bacterial colonies: 44 (43.1%) Gram positive cocci, 32 (31.5%) Enterobacteriaceae, 23 (22.5%) glucose non-fermentative gram-negative rods rods Gram negative non glucose fermentation and 3 (2.9%) fungi (C. albicans). We analized 60 blood samples that derived from patients with confirmed catheter colonisation. It was found that 8 blood samples indicated bacteriemia, but only in 2 cases isolated bacteria came from the CVC. Conclusions. (1) The majority of central venous catheters on ICU are colonized by pathogenic microorganisms. (2) Aerobic Gram positive and Gram negative bacteria are responsible for CVCs' infection. (3) Bacterial colonization of CVCs' is not very often the reason of CRBSI. (4) Prolonged use of central venous catheters needs careful prophylactic standards of an microbiological monitoring.

Anti-Bacterial Agents↗
PubMed2006

[The estimation of treatment of Hymenoptera venoms allergy in children].

Specific immunotherapy in patients hypersensitive to Hymenoptera venom is effective method of preventing from severe adverse events after wasp or honey bee sting. In children very often the conventional method was used. In this method injections of vaccines in rising doses was repeated in intervals of 7 days during 3 or 4 months. After obtaining the dose of 100 microg/ml the maintenance therapy is continued during 3-5 years with prolongation of time between vaccine injection to 4-5 weeks. In this paper the "rush" method of immunotherapy was described. Using this method the maintenance dose of vaccine can obtained after 5 days therapy using 3 to 5 concentrations of vaccines during one day. The preliminary effects in 10 children showed that it is safe method and except one children who have the local manifestation of oedema did not observed adverse effects. The efficacy of sting immunotherapy was documented by presentation the 31 cases of children treated by conventional method. The immunotherapy in a short time after "rush" method in our opinion make progress in this treatment.

Adolescent↗
PubMed2006

Oxidant-antioxidant balance in patients with psoriasis.

BACKGROUND: Psoriasis is a chronic inflammatory skin disease characterized by pathological skin lesions due to various exogenous and endogenous factors and associated with a number of biochemical and immunological disturbances. Antioxidant enzymes may be involved in the pathogenesis of the disease. The aim of this study was to evaluate the concentration of lipid peroxidation products and glutathione peroxidase (GPx) activity in the blood of patients with psoriasis before and after treatment by conventional methods. MATERIAL/METHODS: The patient group consisted of 67 persons with psoriasis vulgaris who were treated at the Department and Clinic of Dermatology. The duration of the disease was from 3 to 34 years. All patients were treated topically. The concentration of thiobarbituric acid reactive substances (TBARS) was determined in the blood plasma. The activity of GPx was determined in erythrocytes. RESULTS: In the healthy persons, GPx activity was 16.8+/-3.7 U/g Hb and TBARS concentration 0.63+/-0.16 nmol MDA/ml of plasma. In the psoriasis patients, GPx activity in erythrocytes was 14.8+/-4.3 U/g Hb and TBARS concentration was 0.73+/-0.22 nmol MDA/ml of plasma before treatment. The applied external treatment caused improvement in the clinical state and a slow increase in GPx activity as well as a decrease in TBARS concentration to values comparable to those of the healthy volunteers. CONCLUSIONS: The results suggest that disorders in antioxidant defense mechanisms may play an important role in the pathogenesis of psoriasis.

Adult↗
PubMed2006

Malformations of cortical development in children: clinical manifestation, neuroimaging and neuropathology in selected cases.

Cerebral cortical development can be divided into three steps: cellular proliferation, neuronal migration and organization. Based on known pathologic, genetic and neuroimaging features a classification for malformations of cortical development was proposed by Barkovich in 2001, and updated in 2005. Malformations of cerebral cortex development (MCCD) often demonstrate epileptic seizures and delay in psychomotor development. About 20-40% of children with epilepsy are drug-resistant and there is a large paediatric population requiring epilepsy surgery operations. In our work we performed clinical analysis of 68 children with MCCD treated in our hospital between 2000 and 2006. In our work to consider the type of MCCD we used the updated classification scheme proposed by Barkovich et al. We analyzed epilepsy, gestational and perinatal history, initial symptoms, time to establishing full diagnosis and neurodevelopmental/IQ status. In our results we found that despite similar clinical manifestation neuropathological basis could be significantly different, and vice versa: children with nearly identical neuropathological findings could have completely different neurological and radiological symptoms. Children with drug-resistant epilepsy are potential candidates for neurosurgical treatment; especially lesionectomies in such cases could be very promising in terms of epilepsy management and quality of life as well.

Anticonvulsants↗
PubMed2006

[Schizencephaly--clinical and radiological presentation of pediatric patients].

UNLABELLED: Schizencephaly is a rare central nervous system malformation. The anomaly is characterized by uni- or bilateral clefts in the brain's cerebral hemispheres. There are 2 types of the anomaly distinguished: type I ("closed lips") if there are fused clefts in cerebral mantle and type II ("open lips") if the clefts are separated. The etiology of this malformation is not clear; both environmental (intrauterine cytomegaloviral infection) and genetic risk factors are considered (mutations in EMX2, Lhx2 genes). The aim of the study was the analysis of clinical presentation, neurodevelopment progress and seizures in children with schizencephaly. MATERIAL AND METHODS: We examined 9 children (4 girls, 5 boys) at the age of 3 months to 11 years at the time of schizencephaly diagnosis. The neuroimaging (computed tomography--CT or/and magnetic resonance imaging--MRI) was performed in all of the patients. We found bilateral schizencephaly in 7 patients and unilateral in 2 of them; in 5 patients the brain anomalies other than schizencephaly were found. Epileptic seizures are present in 7 patients; in 2 of them the epilepsy is drug resistant. The development is delayed in all our patients, in spite of one. CONCLUSIONS: Schizencephaly is a severe brain malformation almost always leading to developmental delay and epilepsy. We did not found the correlation between the type of anomaly and clinical course, the degree of developmental delay and the severity of epilepsy in our group patients.

Cerebral Cortex↗
PubMed2002

Impairment of the peripheral nervous system in Creutzfeldt-Jakob disease.

BACKGROUND: The clinical manifestations of Creutzfeldt-Jakob disease (CJD) primarily reflect involvement of the central nervous system. The coexistence of CJD with peripheral nervous system involvement has also been reported. OBJECTIVE: To analyze peripheral neuron electrophysiologic changes and to compare these data with neuropathologic features of spinal motor neurons in patients with definite CJD. DESIGN AND PATIENTS: Electrophysiologic examinations were performed on 16 patients with sporadic CJD. The diagnosis was confirmed by neuropathologic examinations (15 patients) or by intravital detection of the 14-3-3 protein in the cerebrospinal fluid (1 patient). The spinal cord was neuropathologically examined in 8 patients. SETTING: Department of Clinical Neurophysiology, I Neurological Department, Institute of Psychiatry and Neurology, Warsaw, Poland. MAIN OUTCOME MEASURES: Electromyography, compound muscle and sensory nerve action potentials, distal latencies, F waves, peripheral motor and sensory conduction velocity, and spinal motor neuron numbers and morphologic characteristics. RESULTS: All patients had signs of central nervous system damage typical of sporadic CJD. Only 3 patients had clinical signs of peripheral nervous system involvement. Electrophysiologic examinations confirmed peripheral nervous system damage in these patients and revealed preclinical peripheral nervous system impairment in 11 more patients. In 1 patient, electrophysiologic examination revealed features of motor neuron disease; in 9, axonal disease; and in 4, axonal-demyelinating neuropathy. Neuropathologic examination results confirmed severe loss of spinal motor neurons in 1 patient with motor neuron disease and revealed the features of motor neuron chronic disease in 4. In 2 of them, electrophysiologic data were normal. CONCLUSION: In sporadic cases of CJD, peripheral nervous system impairment should be considered to be an integral component of disease.

Action Potentials↗
PubMed2006

Neurochemical aftermath of amateur boxing.

BACKGROUND: Little solid information is available on the possible risks for neuronal injury in amateur boxing. OBJECTIVE: To determine whether amateur boxing and severity of hits are associated with elevated levels of biochemical markers for neuronal injury in cerebrospinal fluid. DESIGN: Longitudinal study. SETTING: Referral center specializing in evaluation of neurodegenerative disorders. PARTICIPANTS: Fourteen amateur boxers (11 men and 3 women) and 10 healthy male nonathletic control subjects. INTERVENTIONS: The boxers underwent lumbar puncture 7 to 10 days and 3 months after a bout. The control subjects underwent LP once. MAIN OUTCOME MEASURES: Neurofilament light protein, total tau, glial fibrillary acidic protein, phosphorylated tau, and beta-amyloid protein 1-40 (Abeta([1-40])) and 1-42 (Abeta([1-42])) concentrations in cerebrospinal fluid were measured. RESULTS: Increased levels after a bout compared with after 3 months of rest from boxing were found for 2 markers for neuronal and axonal injury, neurofilament light protein (mean +/- SD, 845 +/- 1140 ng/L vs 208 +/- 108 ng/L; P = .008) and total tau (mean +/- SD, 449 +/- 176 ng/L vs 306 +/- 78 ng/L; P = .006), and for the astroglial injury marker glial fibrillary acidic protein (mean +/- SD, 541 +/- 199 ng/L vs 405 +/- 138 ng/L; P = .003). The increase was significantly higher among boxers who had received many hits (>15) or high-impact hits to the head compared with boxers who reported few hits. In the boxers, concentrations of neurofilament light protein and glial fibrillary acidic protein, but not total tau, were significantly elevated after a bout compared with the nonathletic control subjects. With the exception of neurofilament light protein, there were no significant differences between boxers after 3 months of rest from boxing and the nonathletic control subjects. CONCLUSIONS: Amateur boxing is associated with acute neuronal and astroglial injury. If verified in longitudinal studies with extensive follow-up regarding the clinical outcome, analyses of cerebrospinal fluid may provide a scientific basis for medical counseling of athletes after boxing or head injury.

Adolescent↗
PubMed2003

Role of ultrasonography in diagnosis and differentiation of pleomorphic adenomas: work in progress.

OBJECTIVE: To estimate the utility of ultrasonography in diagnosis and differentiation of pleomorphic adenomas. DESIGN: From the group of 88 patients examined by ultrasound, who were referred because of the tumor in the preauricular area, submandibular area, or cheek, pleomorphic adenoma was finally diagnosed in 24 (with multiple recurrent tumors in 2 patients). RESULTS: Ultrasound was able to differentiate between benign and malignant lesions with 96% accuracy in this study. Predicting that the detected tumor was pleomorphic adenoma was possible with up to 84% accuracy. In 15 of 22 patients with primary pleomorphic adenoma, ultrasound guided fine-needle aspiration biopsy. High-resolution probes and harmonic imaging enabled demonstrationof histopathologic heterogeneity of pleomorphic adenomas (in 16 primary tumors [73%]). Of primary pleomorphic adenomas, 95% (21/22) had 5 or fewer vessels detectable in the whole lesion. CONCLUSIONS: Modern ultrasound is highly valuable, useful, and reliable in differential diagnosis of tumors in the preauricular area, submandibular area, and cheek. It enables precise localization, measurements, and assessment of the structure of lesions. It may be the first and last imaging method needed to formulate the final diagnosis, or it may guide fine-needle aspiration biopsy. In many cases, ultrasound may also suggest the nature of the tumor.

Adenoma, Pleomorphic↗
PubMed2004

Modulating angiogenesis: more vs less.

The concept of manipulation of the vascular bed to either increase or decrease the number of blood vessels has attracted considerable interest. This review focuses on angiogenesis as a therapeutic target, particularly in the context of cancer and arthritis, as well as on promoting angiogenesis in cardiovascular disease and the healing of bone fractures. Although once touted almost as a panacea for treatment of tumors, as well as other diseases associated with angiogenesis, such as diabetic retinopathy or rheumatoid arthritis, it is now clear that such enthusiasm was somewhat premature. Similarly, some clinical trials of therapeutic angiogenesis for the management of cardiovascular disease have been disappointing. Nevertheless, this exciting field of research holds promise for more targeted therapies.

Angiogenesis Inducing Agents↗