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Case Reports 2010; 31(2): 174-177 PubMed PMID: 20424585 Citation  Keywords:  Adult, Brain:pathology, Brain Neoplasms:diagnostic imaging, Female, Fetal Diseases:diagnostic imaging, Gestational Age, Humans, Hydrocephalus:diagnostic imaging, Magnetic Resonance Imaging, Pregnancy, Prognosis, Teratoma:diagnostic imaging, Ultrasonograph.   

: Fetal intracranial teratomas are rare neoplasms that can be readily detected via USG and MRI. While early discovery of such a condition may be helpful, the prognosis remains poor. We present a case of a massive intracranial teratoma and hydrocephalus initially detected via USG at 33 weeks of gestation....

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Journal Article 2010; 31(2): 169-173 PubMed PMID: 20424583 Citation  Keywords:  Electron Transport Chain Complex Proteins:metabolism, Fibromyalgia:metabolism, Humans, Leukocytes, Mononuclear:metabolism, Mitochondria:metabolism, Oxidative Stress, Ubiquinone:analogs & derivatives,.   

: Fibromyalgia (FM) is a chronic pain syndrome with unknown etiology and pathophysiology. Recent studies have shown some evidence demonstrating that oxidative stress may have a role in the pathophysiology of FM. Furthermore, it is controversial the role of mitochondria in the oxidant imbalance documented in FM. Signs and symptoms associated with muscular alteration and mitochondrial dysfunction, including oxidative stress, have been observed in patients with FM. To this respect, Coenzyme Q10 (CoQ10) deficiency, an essential electron carrier in the mitochondrial respiratory chain and a strong antioxidant, alters mitochondria function and mitochondrial respiratory complexes organization and leading to increased ROS generation. Recently have been showed CoQ10 deficiency in blood mononuclear cells in FM patients, so if the hypothesis that mitochondrial dysfunction is the origin of oxidative stress in FM patients is demonstrated, could help to understand the complex pathophysiology of this disorder and may lead to development of new therapeutic strategies for prevention and treatment of this disease....

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Journal Article 2010; 31(2): 187-192 PubMed PMID: 20424582 Citation  Keywords:  Adult, Age of Onset, Czech Republic, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Male, Middle Aged, Mutation, Parkinson Disease:genetics, Phenotype, Polymerase Chain Reaction, Polymorphism, Genetic, Ubiquitin-Protein Ligases:genetics,.   

OBJECTIVES: Mutations in several genes such as parkin can be detected in up to 20% of patients with early-onset Parkinson's disease (EOPD). The aim of our study was to determine the frequency of parkin alterations and phenotypic characteristics in Czech EOPD patients.

METHODS: A total of 45 EOPD individuals (age at onset <45 years) were phenotyped and screened for parkin mutations.

RESULTS: In total, 19 patients (42.2%) were carriers of previously described heterozygous genetic alterations. Parkin mutations (Ex2del, R402C) were identified in two (4.4%) cases, non-pathogenic variant A82E plus polymorphism D394N occurred in one (2.2%) patient and parkin polymorphisms (3x S167N, 1x R334C, 7x V380L, 4x D394N) were found in 15 (34.9%) individuals. Furthermore, the G2019S mutation in the LRRK2 gene was found in one (2.2%) subject.

CONCLUSION: The clinical characteristics of our patients correspond to previous descriptions of EOPD phenotype. This is the first report on EOPD-associated genetic alterations among Czech patients. Our results support the hypothesis that single heterozygous parkin variants may act as risk factors for EOPD....

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Comparative Study 2010; 31(2): 250-255 PubMed PMID: 20424581 Citation  Keywords:  Adult, Corticotropin-Releasing Hormone:blood, Drama, Emotions, Enzyme-Linked Immunosorbent Assay, Fear:psychology, Female, Humans, Motion Pictures as Topic, Photic Stimulation:methods, Visual Perception,.   

OBJECTIVES: Central neuropeptides modulate behaviour. Plasma levels of neuropeptides may reflect central levels due to specific brain-to-blood transport systems. We purposed to show the modulation of plasma corticotropin releasing hormone (CRH) levels in relation to induced emotions.

DESIGN: Three groups were defined. For experimental groups A and B, an emotionally significant movie fragment was projected for 20 min, while no film projection occurred in group C. Peripheral venous blood samples were collected before, 10 and 60 min after the film or at 0 and 30 min for group C. Total CRH was measured in plasma. Personality was evaluated by the Minnesota Multiphasic Personality Inventory (MMPI).

RESULTS: Plasma CRH levels did not change in the condition with no movie projection - group C - 346 + or - 198 vs. 327 + or - 143 pg/mL. Plasma CRH levels dramatically increased with the projection of a dramatic movie - group A - 394 + or - 147 vs. 791 + or - 636 vs. 803 + or - 771 pg/mL, p<0.05. Plasma CRH increased less markedly in the condition with the projection of a comic movie - group B - 364 + or - 138 vs. 486 + or - 260 vs. 483 + or - 228 pg/mL, p<0.05 for differences between samples 1 and 3. Baseline plasma CRH was significantly and independently related to the neurotic triad and psychotic dyad - partial r=0.328 and 0.267, respectively, p<0.05.

CONCLUSIONS: We conclude that plasma CRH levels increase with experimental emotion induction and that baseline levels are significantly related to behavioural traits. Plasma levels of neuropeptides may reflect central levels and may be useful in clinical medicine and in the study of behavioural disorders....

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Journal Article 2010; 31(2): 193-197 PubMed PMID: 20424580 Citation  Keywords:  Cell Proliferation, Cells, Cultured, Coculture Techniques, Decidua:cytology, Embryo Implantation:physiology, Female, Humans, Matrix Metalloproteinase 2:secretion, Matrix Metalloproteinase 9:secretion, Placenta:cytology, Pregnancy, Trophoblasts:cytology,.   

OBJECTIVE: Proliferation, migration and invasion of trophoblastic cells into the maternal endometrium are essential steps in human embryo implantation and placentation. Trophoblast invasion is normally limited in time, only during first and early second trimester of pregnancy, and in space, limited to the endometrium and the proximal third of myometrium. This process requires among other factors: the metalloproteinases (MMP) 2 and 9. Shallow trophoblast invasion is associated with pathologies including preeclampsia and fetal growth restriction whereas unlimited invasion is associated with hydatidiform moles and choriocarcinomas.

METHODS: In order to understand the role of decidua in this endometrial invasion by trophoblastic cells, we have developed a model of coculture of decidual and cytotrophoblastic cells in which we can evaluate the effect of each partner on the proliferative and invasive properties of the other.

RESULTS: Surprisingly, decidual cells secrete highest levels of MMPs, and their invasive potential seems to be increased in presence of cytotrophoblast (CTB). In contrast, invasive properties of CTB are not modified by decidual cells.

CONCLUSION: CTB secrete factors that favour invasion whereas decidua seems not to play a major role in regulating CTB invasion in vitro. Moreover, it is interesting to note that decidual cells could have potent invasive capacity which could explain, at least in part, endometriosis....

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Comparative Study 2010; 31(2): 229-237 PubMed PMID: 20424579 Citation  Keywords:  Adult, Aged, Aged, 80 and over, Antibodies, Antineutrophil Cytoplasmic:blood, Autoantibodies:blood, Blood Sedimentation, China:epidemiology, Female, Humans, Hyperlipidemias:blood, Hypothyroidism:blood, Incidence, Kidney:physiopathology, Liver:physiopathol.   

OBJECTIVE: POEMS syndrome is a unique clinical entity. It was described by the presence of several typical characteristics as paraproteinemia, polyneuropathy, organomegaly, endocrinopathy, and skin changes. Few people reported characteristics of Chinese POEMS patients.

PATIENTS AND METHODS: Retrospective evaluation of Chinese patients with POEMS syndrome was carried out to reveal clinical features and compare with foreign series reported previously. In addition to typical characteristics, Chinese patients often were presented with extravascular volume overload (84%), papilledema (44%), bone lesions (41%), raynaud phenomenon (31%) and Clubbing (22%).

RESULTS: Clinical laboratory tests found most patients had increased erythrosedimentation rate, hyperlipidemia, liver disorder and renal involvement. 70% patients had hypothyroidism, including overt hypothyroidism (6 patients) and subclinical hypothyroidism (13 patients). High prevalence of positive antimitochondrial antibody (ANA) and positive antineutrophil cytoplasmic antibody (ANCA) was the more common phenomenon. Chinese patients with bone damage in the incidence are lower than in the West and Japanese reports.

CONCLUSIONS: In summary, our study demonstrate the POEMS syndrome diagnostic criteria proposed by Dispenzieri et al is also more high applicability in the Chinese population.At the time of diagnosis, we should not pay attention on the typical characteristics of the disease, but also on the changes in thyroid, liver, kidney function and lipid metabolism....

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Journal Article 2010; 31(2): 265-269 PubMed PMID: 20424578 Citation  Keywords:  Acromegaly:complications, Adult, Arthralgia:drug therapy, Cognition:drug effects, Female, Follow-Up Studies, Growth Hormone:antagonists & inhibitors, Headache:drug therapy, Humans, Interpersonal Relations, Male, Middle Aged, Motor Activity:drug effects, O.   

OBJECTIVES: Acromegaly is a chronic disease caused by excessive growth hormone secretion resulting in bone and soft tissue overgrowth. Body image changes as well as systemic complications may considerably influence patients' psychological health and disturb everyday activities. The aim of this study was to determine the effect of octreotide treatment on somatic and psychological symptoms of acromegaly, and thus on patients' quality of life.

MATERIALS AND METHODS: The study was conducted on 15 patients with acromegaly. The average duration of octreotide therapy was 5.6 years (1-10 years). The respondents created a list of subjective signs and symptoms of acromegaly before treatment and reported changes observed during therapy. The psychological examination was performed with appropriate test scales assessed patients' self-efficacy, emotional control, psychological gender and their life satisfaction.

RESULTS: The most important changes observed during octreotide therapy were associated with head and joint pain relief and reduction of physical limitations. The patients also noticed the improvement of cognitive functions and interpersonal relations. The study revealed average life satisfaction in the group. The patients on the one hand demonstrated high self-efficacy and on the other hand - intensive repression of emotions. The undifferentiated sex-role schema dominated in group.

CONCLUSIONS: The study proved a significance of octreotide therapy in acromegalic patients' life. In spite of chronic disease, all the respondents reported good quality of life (average life satisfaction). Additionally, their high self-efficacy helps to cope with the disease. Nevertheless, undifferentiated sex role schema in the study group suggests lack of behavioral flexibility and high emotional repression predicts negative somatic consequences....

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Journal Article 2010; 31(2): 256-260 PubMed PMID: 20424577 Citation  Keywords:  Acromegaly:blood, Adult, Cathepsin B:blood, Cysteine Proteinase Inhibitors:blood, Female, Human Growth Hormone:blood, Humans, Insulin-Like Growth Factor I:metabolism, Male, Middle Aged,.   

OBJECTIVE: Acromegaly is a rare disease due to growth hormone (GH) excess. Patients must be carefully follow up because of mortality and co-morbidity increased risks. Since routinely used GH and insulin-like growth factor-1(IGF-1) estimations are not always sufficient, patients require assessment of organ- or tissue-specific tests. Cysteine proteases (CP), including cathepsin B, have been tested in a number of pathologies in respect of a role in pathogenesis and potential utility in the disease activity and prognosis assessment. There is lack of data on CP activity in acromegaly.

MATERIALS AND METHODS: In present study cathepsin B-like and cysteine peptidase inhibitor (CPI) activities have been tested in 29 acromegaly patients and in 15 healthy controls. Cathepsin B activity was assayed with N-bansoyl-DL-arginine-beta-naphthylamide (BANA) as substrate by the Barrett method. CPI activity was determined by measuring the inhibition of papain.

RESULTS: Serum cathepsin B activity (median: 1.38 U/ml) and CPI activity (median: 93.08 U/ml) were higher in acromegaly then in controls (0.93 U/ml and 82.55 U/ml, p=0.000017 and 0.00285, respectively). Neither cathepsin B nor CPI activity was correlated with GH or IGF-1 level. No correlation was recorded between cathepsin B and CPI activity.

CONCLUSION: It was shown for the first time that cathepsin B and CPI activities are increased in acromegaly. These findings suggest to study cathepsin system as an adjuvant parameter in the assessment of the overall acromegaly complications. Moreover, CP may be involved in pathomechanism of organ complications in acromegaly and may interfere with IGF-1 action....

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