Band 6, Heft 2

RNA interference is a technique that has become popular in the past few years. This is a biological method to detect the activity of a specific gene within a cell. RNAi is the introduction of homologous double stranded RNA to specifically target a gene’s product resulting in null or hypomorphic phenotypes. This technique involves the degradation of specific mRNA by using small interfering RNA. Both microRNA (miRNA) and small interfering RNA (siRNA) are directly related to RNA interference. RNAi mechanism is being explored as a new technique for suppressing gene expression. It is an important issue in the treatment of various diseases. This review considers different aspects of RNAi technique including its history of discovery, molecular mechanism, gene expression study, advantages of this technique against previously used techniques, barrier associated with this technique, and its therapeutic application.

This is an epidemiologic study of the Slovak population with the aim of determining the frequencies of three hemochromatosis gene (HFE) variants C282Y, H63D and S65C known to be associated with manifestation of hereditary hemochromatosis and to assess deviations of these frequencies from those reported elsewhere. Mutations were detected in 359 ethnic Slovaks by real-time PCR assay based on TaqMan technology. The allelic frequencies were 4.03% for C282Y, 12.67% for H63D and 1.25% for S65C mutation. We observed 0.28% of C282Y/C282Y homozygotes, 3.34% H63D/H63D homozygotes, 0.84% of C282Y/H63D compound heterozygotes and 0.56% of H63D/S65C compound heterozygotes. This is the first time the frequencies of H63D and S65C mutations have been reported in the general population in Slovakia. The observed allelic frequencies are consistent with the previous studies of Slavic and Central European populations.

Identify criteria and create a risk scoring system to predict hypothyroidism after hemithyroidectomy. We have retrospectively studied 216 cases of patients with goiter who had undergone hemithyroidectomy from January 2002 to December 2007 at Vilnius University Hospital Santariškių Klinikos. Patients were divided into two groups according to their thyroid function after hemithyroidectomy: 168 (77.8%) patients’ thyroid function was normal (group A), 48 (22.2%) patients had symptoms of hypothyroidism (group B). The relationship between groups and parameters such as patients’ sex, age, patient’s weight, preoperative serum thyroid-stimulating hormone (TSH) level, weight of the remnant gland, ratio of the remaining thyroid gland weight to patient’s weight was statistically analysed. The patients’ mean age was 41.6 ± 14.1 years in group A and 52.9 ± 13.9 years in group B (p=0.0002). The mean preoperative TSH level was 0.79 ± 0.5 mU/L in group A, compared with 1.42 ± 1.00 mU/L in group B (p= 0.005). The mean ratio of the remaining thyroid gland weight to patient’s weight was 0.102 ± 0.053 g/kg in group A and 0.063 ± 0.027 g/kg in group B (p=0.04). The groups did not establish a significant difference between patients’ sex, patient’s weight or weight of the remaining gland. Patient’s age, preoperative serum TSH level, ratio of the remaining thyroid gland weight to patient’s weight is the main factors of hypothyroidism after hemithyroidectomy. A risk scoring system was created to predict hypothyroidism after hemithyroidectomy before the operation.

Thyroid status is known to influence growth in mammals. The aim of this study is to investigate the possible relationship between autoimmune subclinical hypothyroidism and growth hormone (GH), insulin-like growth factor-1(IGF-1) and insulin-like growth factor binding protein-3(IGFBP-3) levels. Thirty-five women with autoimmune subclinical hypothyroidism, 33 years of age, were used as controls and enrolled in the study. Free triiodothyronin (FT3), free thyroxin(FT4), thyrotropin(TSH), anti-thyroid peroxidase(Anti-TPO), anti-thyroglobuline(Anti-Tg), GH, IGF-1 and IGFBP-3 levels were measured in blood samples and correlations among these parameters were evaluated. We found no significant differences in GH, IGF-1 or IGFBP-3 between patients and controls. In patients and controls, there were no correlations among thyroid hormones and IGF-1 or IGFBP-3 levels, but GH levels were correlated with FT3, FT4 and TSH only in patients’ group. In controls, only IGF-1 and IGFBP-3 levels were correlated. The present study suggests that subclinical hypothyroidism with high TSH and antibody status does not affect IGF-1 and IGFBP-3 levels in adult women. To our knowledge, this is the first study concerning the relationship between autoimmune subclinical hypothyroidism and IGF-1 and IGFBP-3 levels.

The aim of the study was to describe the natural history, anthropometric features, range of motion (ROM) and molecular characteristics of Polish patients with mucopolysaccharidosis (MPS) VI. Clinical heterogeneity was observed and two major clinical phenotypes of the disease were distinguished, rapidly advancing and relatively attenuated. Two patients developed symptoms early in life presenting with short stature, significant skeletal malformations and other clinical abnormalities. In two other patients, height was only slightly decreased and MPS features developed later in the course of the disease. All patients had similar characteristics at the time of birth but showed significant differences in body proportions when compared with the healthy population. Differences between healthy and affected children increased with age and were reflected in phenotypes. Analysis of ROM showed impairments at multiple joints, although to a various degree in different patients. Restriction in upper extremity ROM was observed since the second year of life, while restriction in lower extremity ROM developed later and influenced stereotype of walking. These limitations intensified with the patients’ age, which made self-care more difficult or impossible. The molecular analysis revealed that the milder phenotype may be associated with the R152W mutation, which suggests a specific genotype-phenotype correlation.

A survey of 104 sexually active young females tested on on cervico-vaginal swabs showed that 26 of the females (25%) had vulvovaginal candidiasis with a species distribution of Candida isolates accounting for 13 (50%) with C. albicans, 6 (23%) with C. glabrata, 1 (4%) with C. krusei, and 6 (23%) with C. tropicalis. Of the 26 (25 %) subjects that were positive for VVC, 8 (7.8 %) were symptomatic and 18 (18.8 %) were asymptomatic. However, distribution among different age groups revealed an increase in the 23–27 age group. The comparative analysis of sensitivity of the given fungi to the number of antimycotic preparations used revealed the following: in fluconazole, 2 (7.8%) isolates were sensitive, 5 (19.2%) were susceptible and dose dependent, and 19 (73%) were resistant. For voriconazole, 4 (18.4%) isolates were sensitive, 6 (23.1%) were susceptible and dose dependent, and 16 (61.5%) were resistant. For nystatin, 5 (19.2%) isolates were sensitive, 10 (38.5%) were susceptible and dose dependent, and 11 (42.3%) were resistant. It appears that Candida isolates have a variable resistance response, but 19 (73%) had maximum resistance of the isolated fungi of the genus Candida to fluconazole. Therefore, further studies on the evaluation of combination therapy should be considered for a better outcome in treatment of vulvovaginal candidiasis.

We present a case concerning a 48 year-old man, who had complaints about ocular pains and an unpleasant feeling, which had started two days before admission. It was as if there was “something moving in his left eye.” The examination showed an extremely motile white worm, which was wrapped in concentric circles around the limb in the subconjunctival space of the patient’s left eye. It was identified as the adult female form of Dirofilaria repens. The patient had a normal clinical finding, except eosinophilia. Ocular filariasis is as a possibility to think about, even when the cases are not in a typically endemic area and with no specific subjective complains.

The preparation of thrombocyte concentrates with filtration before storage (in-line) makes it possible to avoid the presence of mononuclear cells in the concentrate and proinflammatory cytokines. Therefore, this filtration may result with decreased activation of trombocyte receptors in vitro, which may improve therapeutic efficiancy. Methods. We compared two groups, each with 30 therapeutic doses of concentrated thrombocytes. We prepared the first group using the classic model from the buffy coat and the other with concentrated thrombocyte samples filtrated during sampling, so-called in-line, with the WBC filter Imuflex (Terumo). Mononuclear cells (MNC), thrombocyte, and erythrocyte counts in the units of concentrated thrombocytes were obtained on an automatic cell counter, and we used flow cytometry to measure the expression of surface thrombocyte receptors. The results demonstrated that the trombocytes prepared with pre-storage filtration contained a very low level of mononuclear cells and markedly reduced trombocyte receptors. Conclusion. The number of MNC and expression of surface thrombocyte receptors were markedly lower in the concentrated thrombocyte units prepared with in-line filtration. The thrombocytes prepared in this way contain fewer mononuclear cells, are of higher quality, are more functional, and may produce a better therapeutic effect in vivo.

Early diagnosis of osteoporosis and estimation of subjects that are at high risk for fracture, is neccesary for osteoporosis treatment. Dual-energy X-ray absorptometry (DXA) is a modern method for bone mineral density (BMD) evaluation. However, along BMD, clinical risk factors may significantly influence fracture development. Therefore, FRAX algorithm was designed for the assessment of a ten-year risk for serious osteoporotic fractures (SOF), as well as hip fractures. In the current study, we tried to evaluate the possible lumbal spine and hip BMD influence on ten year risk for SOF and hip fractures and potential role of FRAX in predicting the therapy in postmenopausal women with osteopenia. We performed the study on 385 postmenopausal women. According to the DXA measurements, at the lumbal (L) spine (L1–L4) and hip (femor neck), patients were then classified as normal, osteopenic, or osteoporotic. BMD evaluation included the L spine and the hip (subgroup 1), and only on the L spine (subgroup 2). By filling up the FRAX questionnaire, a ten-year risk for SOF fracture and hip fracture was calculated. BMD evaluation, in complete patient’s group and in subgroup 1, resulted in the highest number of osteoporosis (61.04%, 48.08%, retrospectively), while ospeopenia was a main finding in subgroup 2. In the subgroup 1, a high risk for SOF and hip fracture was detected in 16.45% and with high risk for hip fracture in 11.38% subjects. In subgroup 2, only high risk for hip fracture was observed in 3.16% subjects, indicating the active medicament treatment. Simultaneously, correlation of BMD results with FRAX values for SOF and hip fracture, showed significant negative correlation (p<0.001). Obtained results showed significant role of femur neck BMD evaluation in predicting the future factors, which may, together with FRAX analysis, improve the therapy approach in postmenopausal women with ospeopenia.

Posterior ankle impingement syndrome represents an important cause of chronic ankle pain and has been extensively described in the orthopaedic and radiology literature. A rare case of this painful hindfoot disorder that resulted from two concurrent developmental anomalies is presented herein.

In search of biological marker in multiple sclerosis (MS), total-tau and phospho-tau (Thr181) concentrations were established in CSF and serum of 78 patients with MS, using commercially available kits. Serum and CSF concentrations of IgG, IgM, and albumin were assayed simultaneously to calculate quotients and indices of intrathecal synthesis. Serum t-tau detection was strikingly low (23.1%); therefore, this factor was excluded from further analysis. Serum p-tau levels did not correlate with any of indices or quotients. Unexpectedly, CSF t-tau and p-tau showed an inverse relation with MSSS and EDSS, which has not been published elsewhere. Our results do not support utility of serum t-tau and p-tau as surrogate markers for MS.

Hydatidiform mole is a pregnancy disorder, of a benign nature. We present a case of molar tissue within a uterine myoma, the first such entity reported in the literature. In May 2006, a thirty-eight year old infertility patient was admitted for myomectomy. She had anamnesis for chronic pelvic inflammatory disease and surgeries performed for tubal pregnancies. After the sixth intracytoplasmal spermatozoa injection procedure performed in January 2006, she conceived, but curettage was performed in March 2006 for a missed abortion. Following the routine preoperative evaluation in May 2006, four months after the last artificial reproductive technology procedure, myomectomy was performed as uneventful operation, but the histological report appeared unusual, showing degenerated chorionic villi within the uterine myoma. Molar tissue within uterine myoma might evolve even after artificial reproductive procedures. Furthermore, this finding might be misinterpreted as a fibromyoma degeneration. This is the first, and a unique case, of molar tissue within uterine myoma reported in the literature.

Cervical cancer morbidity and mortality in Lithuania is one of the biggest in the European Union. The main risk factor of cervical cancer is human papillomavirus (HPV). The deletion of the HPV E2 gene influences HPV DNA integration into the cell genome, as well as a rapid progression of cervical lesions. The purpose of this study is to determine HPV, its types, and HPV 16 integration in different grades of cervical intraepithelial neoplasias (CIN). 253 women with cytological lesions were involved in the study. After a histology, 31 women were diagnosed with CIN I, 35 with CIN II, and 51 with CIN III. The biggest prevalence of HPV infection was detected in women younger than 25 years old (69.7%) and in women with CIN II (90.9%). HPV 16 was detected in 67.8% of all cases, with the highest prevalence in CIN III (84.4%). A partial integration form was detected in 65.0% of HPV 16 infected women, a complete virus integration in 26.5%, and an episomal form in 8.4% of cases. Our study concludes that in all the cases confirmed using a histology, the partial virus integration form of CIN was identified the most. It was less frequently detected in CIN I cases (60.0%), but more frequently in CIN II and CIN III cases (72.8 and 69.3%, respectively).

The purpose of this study was to present the outcomes of treatment of cardiogenic shock (CS) complicating acute myocardial infarction (AMI) among patients hospitalized from 1999 through 2006. The study enrolled 1003 patients. Group 1 comprised 87 patients presenting with AMI complicated with CS, whereas Group 2 comprised 916 patients presenting with AMI without CS symptoms. Determination of invasive treatment was according to standard guidelines. The endpoint comprised death, stroke, and reocclusion/reinfarction. Follow-up was confined to the intra-hospital period. CS was observed more frequently in cases of ST-elevation MI (STEMI) and right ventricular MI. The transportation and door-to-needle time were shorter in Group 1. CS patients were characterized by a more severe coronary artery disease, higher maximal creatinine kinase levels, lower global ejection fractions, and increased incidence of atrioventricular conduction disorders. The efficacy of percutaneous coronary intervention (PCI) was 82.26% in Group 1 and 95.03% in Group 2. Death occurred in 33.3% of CS patients and in 3.6% of AMI patients (p<0.0001). Our study proved that in a short-term follow-up, PCI is a procedure of high efficacy in CS patients. The short-term follow-up precluded a conclusion of statistically significant benefits from the shortening of the transportation and door-to-needle time.

Dyslipidemia, is a major risk factor for premature coronary artery disease. Our aim was to estimate the prevalence of dyslipidemia (blood lipid abnormalities) and other risk factors associated with coronary artery diseases among an adult population in northeastern China. Throughout the months of September and October of 2007,a population-based cross-sectional study was conducted and a total of 3,815 individuals were included. Total cholesterol (TC), high-density cholesterol (HDL-C), low-density cholesterol (LDL-C), and triglycerides (TG) were measured. A binary logistic regression analysis was conducted to determine risk factors associated with dyslipidemia. The prevalence of hypercholesterolemia, high LDL-C, low HDL-C, and hypertriglyceridemia were 17.3%, 27.8%, 11.66% and 29.85%, respectively. The prevalence of hypertension, central obesity, alcoholic liver disease (ALD), non-ALD, diabetes and metabolic syndrome was higher in serum lipid abnormality groups than in the non-dyslipidemia group (p < 0.001). In a binary logistic regression, hyperlipidemia was positively correlated with age, male, hypertension, high body mass index, etc. There were negative correlations with being female and the level of education a subject had attained. Dyslipidemia is a major risk factor for premature coronary artery diseases and an important public health issue in the northeastern part of China. Dyslipidemia is more frequent than expected based on previous studies. To control dyslipidemia, routine evaluations in clinics and community centers are needed, as well as effective public health education.

The human coronary sinus is an evolutionary modification of the terminal part of the left sinus horn. Anatomically, the coronary sinus is a short, broad vessel that runs along the coronary groove situated on the diaphragmatic surface of the heart. This structure, which opens into the right atrium, collects blood from the great cardiac vein and from other veins of the heart as well. In this study, we assessed the growth and dimensions of the coronary sinus at the fourth and eighth months of fetal development from whole material received from the Nicolaus Copernicus University, Collegium Medicum, Department of Histology and Embryology in Bydgoszcz. A group of 219 specimens, 105 male and 114 female fetuses, presented no visible malformations or developmental abnormalities. The results of this study determined that the dimension of the coronary sinus during prenatal development is not sexually dimorphic. Furthermore, following a monthly period of rapid growth in length of this structure, there are no further increases in length after the six months gestation. Finally, we concluded that the dimensions of the coronary sinus obtained during autopsy are similar to those determined through intravital ultrasound examination. The diameter of the coronary sinus is the best parameter to monitoring the fetal age and the growing of the fetus. Accordingly, we suggest that the best way of estimate for proper blood drainage from heart veins is study of coronary sinus volume.

The calcification of superficial veins of inferior members has rarely been published in the literature. The case shows calcifications of superficial varicose veins with the elimination of fragments.

Hyoscine and drotaverine effectiveness was compared for the purposes of achieving optimum distension following insufflation in CT colonography. The in vitro effects of hyoscine and drotaverine on tone and contractility of SM preparations isolated from different areas of human colon were studied by isometric registration of contractile activity. Both medications have a relaxing effect on SM preparations and inhibit their spontaneous contractions. The drotaverine-induced effects were reliably more marked than the hyoscine-induced ones. CT colonography was performed in 70 patients who were injected with equal doses of either hyoscine (n=32) or drotaverine (n=38). The degree of drug-induced distension in both groups was determined by measuring the lumen of the colon on a 2D reconstruction. In most colon areas the width of the distended lumen was greater in the drotaverine-treated patients. We concluded that drotaverine can be used as a means to facilitate colonic distension.

Patients with cryptorchidism are at an increased risk for germ cell testicular cancer. OCT 4 has been shown to be a sensitive and specific marker for some types of germ cell testicular cancer. We undertook this study to establish whether OCT 4 immunohistochemistry is a useful tool in the pathohistologic evaluation of postpubertal patients with cryptorchidism. Seventeen postpubertal patients underwent orchidectomy for cryptorchidism at our center since 1997. Immunohistochemical staining with OCT 4 was performed on these samples. Characteristic OCT 4 nuclear staining was positive in two patients. One patient was correctly diagnosed on previous pathohistological evaluation, while OCT4 immunohistochemical staining revealed previously unidentified intratubular germ cell neoplasia in the other patient. OCT 4 immunohistochemistry can be useful in diagnosing a testicular germ cell tumor in patients with cryptorchidism. If we consider a low number of postpubertal patients with cryptorchidism a benefit of immunohistochemical staining with OCT4, this could favor the use of OCT 4 staining in work-up of cryptorchidism.

Renal cell carcinoma to the uterus is rare. We describe a 52-year old lady who presented with progressive abdominal distension and computerized tomogram scan of the abdomen showing two pathologies; uterine and right renal tumour. It was initially thought to be two distinct tumours (double pathology). Radical nephrectomy and total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed concurrently. Histopathological evaluation of the uterine and right renal tumour however surprised us with a rare form of metastasis from a renal tumour to the uterus. The method of differentiating primary renal cell carcinoma with uterine metastasis, from primary uterine carcinoma with renal metastasis, via immunohistochemistry, is described.