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PubMedDate not supplied

[Case of subtelomeric aberration as a cause of familial intellectual disability with congenital defects and dysmorphic features--problems of diagnosis and genetic counseling].

Intellectual disability, defined as an IQ less than 70, occurs in 2-3% of the population and is both a medical and social problem of outstanding importance. Establishing its aetiology is not always easy, but it is a necessary condition in providing genetic counseling for families. Until now, the aetiology of mental retardation remains unknown in about half of the cases. Chromosomal aberrations are found in about 30-40% of moderately and profoundly intellectually impaired. Submicroscopic chromosomal aberrations involving the telomeric regions of chromosomes discovered in the recent years, are responsible for 4-9% cases of idiopathic mental retardation. Identification of very small structural rearrangements in the telomeric regions of the chromosomes requires another strategy than those applied in routine classic methods of chromosomal analysis (fluorescence in situ hybridisation in situ FISH). We present several cases of mental retardation with congenital defects and dysmorphic features which occurred in one family. Submicroscopic aberration in the telomeric regions of chromosomes 7 and 10 was revealed as a cause of mental retardation in this family. That aberration was a result of familial reciprocal translocation which had been not previously identified by routine cytogenetic methods. Detailed retrospective clinical characteristics of the proband and his affected relatives is presented. Variable clinical expression in presented cases in relation to difficulties in diagnosis and genetic counseling is discussed.

Chromosome Aberrations↗
PubMed2004

Leukoencephalopathy with macrocephaly and mild clinical course.

The study of the magnetic resonance pattern allowed for identification and description of many genetic disorders belonging to a group of non-specific leukodystrophy e.g. leukoencephalopathy with macrocephaly and mild clinical course (van der Knaap syndrome, MLC megalencephalic leukoencephalopathy with subcortical cysts). This leukodystrophy is characterized by macrocephaly in the first year of life, initially normal development, progressive neurological dysfunction and preservation of mental abilities. The authors describe 3 new cases of vacuolating leukoencephalopathy with megalencephaly. The presented patients fulfill the clinical and neuroimaging criteria of van der Knaap syndrome.

Abnormalities, Multiple↗
PubMed2003

[Lymphatic metastasis in the neck from unknown primary. Analysis of treatment results and prognostic factors].

The aim of this study is to analyze the results of treatment results and prognostic factors related to clinical and treatment characteristics in patients with neck lymph nodes metastases from the unknown primary site. 90 patients with pathology proven cancer metastases in the neck lymph nodes from the unknown primary site were treated between 1984-1998. Most of them (58 patients--63%) had advanced disease in lymph nodes N3. The rest had stage N2abc before initial treatment. 40 patients underwent combined treatment--surgery and definitive radiotherapy. 3 patients had induction chemotherapy followed by resection and radiotherapy. 30 patients received radiotherapy alone or radiotherapy and chemotherapy. In 7 cases chemotherapy after surgical resection were used. Curves of overall survival were estimated using Kaplan-Meier method. Analysis of the prognostic factors was performed using Cox's multivariate proportional risk model. 5 years overall survival probability was 24%. In the group of patients who underwent surgery and radiotherapy probability of 5 years overall survival was 43%. In patients who received radiotherapy alone or radiotherapy and chemotherapy probability of 5 year overall survival was 2%. Multivariate analysis showed significant influence of the performance status (PS--WHO scale), sex and stage N3 on overall survival. The patients with PS 0-1 had better prognosis comparing with PS 2-3 (p < 0.001). Male had worse prognosis then female (p = 0.05). N3 stage reduced overall survival in comparison to N2abc (p = 0.06). In the analysis of disease free survival N3-stage was the only independent factor concerning with poor outcome (p = 0.03). Patients who had surgery followed by radiotherapy had better prognosis. Poor performance status, sex-male and N3 stage were identified as the important factors influencing overall survival. N3-stage was an independent factor influencing disease free survival.

Adult↗
PubMed2003

[Qualitative evaluation of the students diet with normal body mass and overweight at the Medical University in Bialystok].

The aim of the study was the qualitative evaluation of the diets of students of the Medical University of Białystok with normal body mass compared with the menu of those with overweight and obesity. The study performed in the autumn-winter period of 2000/2003 involved 358 students (266 women and 92 men). Overweight was noted in 25 female students and in 35 male students. The mean age was 22.0 +/- 1.5 years. The way of nutrition was qualitatively assessed based on the frequency of consumption of chosen food products and point method according to Starzyńska (classifying the menu as good, sufficient, hardly sufficient, bad). Hardly sufficient diet was found to dominate in both students with normal and excessive body mass. Statistically significant differences were observed in the intake of chosen food products between female and male students. Women more often than men ate cottage cheese and whole-grain bread, while men consumed meat, meat products, potatoes and alcoholic drinks more frequently. Moreover, lower percentage of people with excessive body mass (both men and women) fullfiled the criteria of proper nutrition. Men with overweight had fewer meals, more seldom ate vegetables and fruit compared to those with normal body mass. The diet of women with overweight was characterized by a fewer number of meals a day and lower consumption of milk products, vegetables and fruit (especially fresh).

Adult↗
PubMed2004

[Ultrastructural examination of the placenta in pregnancy complicated by diabetes mellitus].

BACKGROUND: Causes of fetal hypoxia in diabetic pregnancy are still unknown. Investigation of placental vascular network seems of great importance in this research area. Abnormalities in the structure of capillaries in the vasculo-epithelial membranes and role of perivascular space may be an essential factor in explanation for fetal hypoxia in diabetic pregnant women. The aim of the study was to evaluate the relationship between the vascular surface of the terminal villi to its total surface, evaluation of the endothelial structure, perivascular space and basal membrane of the trophoblast as well as analysis of the studied parameters in relation to the classes of diabetes and metabolic control. MATERIAL AND METHODS: The study was performed on 32 placentas from women with PGDM and GDM. There were 8 pregnant women in class G1 and G2, 15 in class B, C, D, 9 in class R/F and 8 in control group. The mean diurnal glycemia in the analysed groups ranged between 90 + 22 mg/dl and 100 + 55 mg/dl (in control group 80 + 12 mg/dl). HbA1c concentrations were between 6.7 + 0.9% and 7.6 + 1.0% (in control group 6.0 + 0.5%). Placentas were examined using light microscopy and electron microscopy Opton-Zeiss EM-900. RESULTS: Decrease in the vascular surface of terminal villi was found in PGDM with fetal hypotrophy. In this cases we observed separation of basal membranes in basal capillaries and distention and proliferation of endothelial cells, disarrangements of perivascular space,. In placentas of women with hyperglycemia and fetal macrosomia there was a significant thickening of basal membranes of the trophoblast, and structural abnormalities in perivascular space with proliferation of collagen in terminal villi. Intensity of these changes was related to the degree of hyperglycemia and affected fetal and neonatal wellbeing. Examination of the placentas in women with PGDM with normal sugar levels before and during pregnancy revealed no or very limited pathological changes on light and electron microscopy. No significant relationships were shown between vascular surface in terminal villi and selected biochemical parameters and neonatal condition in diabetic pregnant women with fetal eutrophy CONCLUSIONS: Pathologic changes in the placentas of diabetic women (significant thickening of basal membranes of trophoblast separation of basal membranes in basal capillaries, distention and proliferation of endothelial cells, disarrangements of perivascular space and decrease of vascular surface of terminal villi are significant factors contributing to fetal anoxia in pregnancy complicated by diabetes mellitus.

Adult↗
PubMed2004

Multiple brain metastases from malignant peripheral nerve sheath tumour (MPNST).

Malignant peripheral nerve sheath tumours (MPNSTs) are rare soft tissue neoplasms arising from elements of the nerve sheath that often occur in the context of neurofibromatosis (NF) type 1. Their poor prognosis results from high local recurrence rate and distant dissemination. Nevertheless, the brain metastases are exceptional. We are presenting an unusual case of intrathoracic MPNST in a 33-year-old man with a five-year clinical course characterised by multiple times local recurrences of primary tumour and multiple remote metastases into the brain structures, thyroid and suprarenal gland. Moreover, the cerebellar metastasis regrew in spite of its total excision. Histologically, brain metastatic tumours were composed of spindle cells closely arranged in interlacing and woven fascicles. This highly cellular nerve tissue exhibited an advanced nuclear hyperchromasia and a high mitotic activity. The tumour exhibited rich delicate reticulin network. The schwannian nature of brain metastases has been confirmed by immunohistochemical findings showing S-100 protein and GFAP expression and ultrastructural evidences of the pericellular basal lamina.

Adult↗
PubMedDate not supplied

[The results of speech rehabilitation in patients with non-syndromic deafness type DFNB1].

UNLABELLED: THE AIM of this work was an evaluation of the rehabilitation results in a group of patients with a prelingual deafness DFNB1 type. MATERIAL AND METHOD: 50 patients examined, aged 12-15 years with non syndromic prelingual deafness. All patients were qualified on the basis on molecular and audiometrical examinations (the hearing threshold above 70 dB). In all cases audiologic, logopedic and lingual skill tests were performed. The control group were 50 school age children with environmental prelingual deafness. THE RESULTS of performed lingual test were following: 52% obtained low results, 16% middle results and 32% high results. In control group results were following: 42% low, 20% middle, 38% high level of speech efficiency. CONCLUSIONS: 1/3 of examined patients with nonsyndromic prelingual deafness independent on cause of hearing loss have possibility to obtain high speech efficiency.

Adolescent↗
PubMed2004

[Epidemiology of kidney diseases in Poland--pilot study (PolNef)].

Systematic increase of dialysis patient number in the world places an enormous responsibility upon the nephrological society in analyzing the epidemiological situation concerning renal diseases. Early diagnosis of renal disease permits treatment of not only the damaging effects of nephropathy on the kidney but also facilitates introduction of therapy that slows progression of complications due to renal insufficiency. Consequences of such strategy may allow for avoidance of terminal renal failure and to a significant degree may slow down for many years the further progression of chronic renal failure and its' impending results. The aim of the initiated pilot study is an attempt to evaluate the epidemiology of renal diseases in Poland on the basis of screening tests performed on a selected patient city in population numbering 60 thousand. In the first stages of the program, questionnaires will be distributed in order to select the patients that will require more detailed diagnostic procedures and nephrological care. Patient identification in the early stages of disease should bring not only better patient quality of life through adequate treatment but also substantial economic benefits, such as decrease in percentage of patients that will progress to terminal renal failure requiring expensive dialysis treatment.

Humans↗
PubMed2004

[Comparison of technical aspects of colonoscopy in various gastroenterologic centres].

There are ongoing multicenter European trials analyzing, among other factors, technical aspects of colonoscopy in various countries. The aim of the study was to compare the techniques of preparation and performance of colonoscopy in the Department of Gastroenterology at Medical University of Silesia in Katowice and other gastroenterology centers throughout Europe. The trial was conducted between January 1st 2001 and May 30th 2001 in 18 centers in 9 European countries. 307 consecutive patients, who signed consent forms, were recruited in Katowice, while 5697 patients were enrolled in other centers. The data were collected in a dedicated sheet, prepared in the coordinating center in Lausanne (Switzerland). The part concerning methods of bowel preparation was filled in before colonoscopy and the remaining questions (sedation, number of persons involved, duration, completeness, diagnosis, complications) were answered after the procedure. The data from all centers were analyzed in Lausanne and the results were sent back to the participants. The comparison of results from Katowice and other centers was performed in Katowice. We found out, that the type of cleansing the gut did not influence the quality of bowel preparation. Colonoscopy was performed under deep sedation (in the presence of anesthesiologist and anesthesiology nurse) more frequently in Katowice than in other centers. Differences between Katowice and the rest of centers in the other technical aspects of colonoscopy were of minor importance.

Adult↗
PubMed2004

[Congenitally corrected transposition of the great arteries in a 72 year old man--a case report].

Congenitally corrected transposition of the great arteries (CCTGA) is a rare form of congenital heart disease characterised by atrioventricular as well as ventriculoarterial discordance. The life expectancy of individuals with CCTGA is limited by the onset of the systemic ventricular failure. There have been only a few patients with CCTGA and age >50 years reported in literature. We describe a 72-year-old man with CCTGA who was admitted to the hospital because of severe congestive heart failure. Our patient s survival is one of the longest ever described.

Aged↗
PubMed2004

Suppression of angiogenic activity of sera from diabetic patients with non-proliferative retinopathy by compounds of herbal origin and sulindac sulfone.

Angiogenesis, the process of new blood vessel formation, is the key event in the mechanism of several pathological processes including diabetic retinopathy. The physiological control of angiogenesis depends on the balance between stimulatory and inhibitory factors. Therefore, a number of anti-angiogenic approaches has been developed, many of them based on the inhibition of the functional activity of pro-angiogenic factors. The aim of the present study was to compare the anti-angiogenic effectiveness of sulindac sulfone and some herbal compounds in the serum-induced angiogenesis test performed in Balb/c mice. Pooled sera from 35 patients with diabetes type 2 and retinopathy were used as pro-angiogenic stimuli. The strongest inhibitory effect was observed for the sulindac sulfone and ursolic acid in the highest concentration of 200 micro g/ml, as well as for the low-dosage concomitant treatment with 2 micro g/ml of epigallocatechin gallate (EGCG, green tea flavanol), ursolic acid (plant-derived triterpenoid), sulindac sulfone and convalamaroside (steroidal saponin). Combination treatment was significantly more effective than monotherapy with medium (20 micro g/ml) or lowest doses of tested compounds. The present study is the first to demonstrate the potent anti-angiogenic effect of the combination therapy comprising of plant-derived extracts and sulindac sulfone, as tested in the in vivo angiogenesis experimental model with sera of non-proliferative diabetic retinopathy patients used as the pro-angiogenic stimuli. We think that it might be the first step toward application of some of these compounds, in the future, in preventive anti-angiogenic therapy of these patients, as well, as in the treatment of later, proliferative stage of this disease.

Angiogenesis Inducing Agents↗
PubMed2004

[Early form of toxoplasmosis with accompanying enlargement of lymph nodes].

The paper describes a case of a 42-year-old female presented rapidly increasing enlargement of lymph nodes. Initially it was believed to be an effect of proliferous systemic changes. The diagnostic procedures did not confirm the initial diagnosis but they evoked a lot of stress of the patient as well as her psychic discomfort resulting from a number of biopsies. Serological tests carried out in the further course of the diagnostic procedure showed that the increased nodular reaction should be attributed to Toxoplasma gondii invasion, which was indicated by the presence of IgM and IgA antibodies and low avidity of IgG. The early administration of specific treatment with spiramycin led to the regression of the clinical symptoms and gradual normalization of the serological test. The case is worth attention for several reasons: 1. it indicates that it is necessary to consider T. gondii infection in basic clinical practice, which is frequently ignored, 2. it illustrates the effectiveness of early specific treatment, 3. it demonstrates the importance of well selected and properly interpreted microbiological tests.

Adult↗
PubMedDate not supplied

[The concentrations of homocysteine, folic acid and vitamin B12 in alcohol dependent male patients].

UNLABELLED: Metabolism of homocysteine (sulphur-containing amino acid) is accomplished in the remethylation cycle where vitamin B12 and folic acid are essential coenzymes. Markedly elevated homocysteine concentrations have been observed in patients with nutritional deficiencies of vitamin B12 and folate. Hyperhomocysteinemia in alcohol abusers may result from malnutrition and disorder of intestine absorption. AIM: The aim of the study was the estimation of homocysteine, folic acid and vitamin B12 concentrations in alcohol dependent male patients. METHOD: 71 males with a clinical diagnosis of alcohol dependence (ICD-10) have been examined. The investigated parameters have been determined in the blood serum, the homocysteine by means of immunochemical method, vitamin B12 and folic acid by means of immunoenzymatic assay. RESULTS: Serum homocysteine concentration was significantly higher and serum folic acid concentration was lower in alcohol dependent men than in controls. Mean concentrations of folic acid and vitamin B12 were significantly lower in patients with hyperhomocysteinemia than in men with normal homocysteine concentration. The highest correlation was indeed noticed between folate deficiency and the intensity of hyperhomocysteinemia. CONCLUSIONS: The development of hyperhomocysteinemia is associated with alcohol dependence that is also a probable cause of folate and vitamin B12 deficiency.

Adult↗
PubMed2004

[Staphylococcal toxic shock syndrome].

[A case of menstrual toxic shock syndrome (TSS) in a woman aged 21 is reported. Diagnosis was made on clinical basis and was followed by successful treatment]

Adult↗
PubMedDate not supplied

[Cervical incompetence in twin pregnancy--case report].

The paper presents a case of a 29-years old primipara with the cervical incompetence diagnosed in 22nd week of twin gestation. Cervical cerclage was performed with a cervical dilatation about 7 cm. The pregnancy was prolonged for 84 days. Caesarean section was performed in 34th week of gestation. The mother with healthy newborns was discharged from the Department on 5th day after delivery.

Adult↗
PubMedDate not supplied

Anti-angiogenic activity of convallamaroside, the steroidal saponin isolated from the rhizomes and roots of Convallaria majalis L.

Angiogenesis plays a pivotal role in tumor growth and represents a key target for chemopreventive intervention. Despite the large number of existing angiogenesis inhibitors, there is still a great demand for new anti-angiogenic compounds. The objective of this study is to investigate the effect of administration of convallamaroside, a steroidal saponin isolated from the lily of the valley (Convallaria majalis L.) to mice on tumor angiogenesis reaction induced by tumor cells. Angiogenic activity was evaluated by mice intradermal test. Convallamaroside showed a significant inhibitory effect on the number of new vessels induced in mice by human kidney tumor cells (p < 0.001). Similarly, administration of convallamaroside to mice decreased the number of new vessels induced by sarcoma mice cells (p < 0.001).

Angiogenesis Inhibitors↗