The relationship between sudomotor function and skin microvascular reactivity in individuals with type 1 diabetes of long duration.

AIM: The aim of this study was to assess the relationship between sudomotor function and microvascular perfusion in patients with type 1 diabetes (DM1). METHODS: We evaluated 415 patients (206 women), with DM1, median age of 41 (IQR: 33-53) years, disease duration of 25 (IQR: 20-32) years. We assessed metabolic control of diabetes and the presence of peripheral and cardiac autonomic neuropathy. Sudomotor function was assessed using Sudoscan device by electrochemical skin conductance (ESC). Microvascular function was measured by laser-Doppler flowmetry with basal perfusion, the peak flow after occlusion (PORHpeak) and THmax which is the percentage change between basal perfusion and the peak flow during thermal hyperemia (TH). The accumulation of advanced glycation end products in the skin was assessed by skin autofluorescence (AF) measurement using AGE Reader. We subdivided patients based on the presence of diabetic peripheral neuropathy (DPN), cardiac autonomic neuropathy (CAN) and according to normal value of ESC. RESULTS: Patients with abnormal ESC had higher skin AF [2.5 (2.1-2.9) vs 2.1 (1.9-2.5) AU, p < 0.001], lower eGFR [83 (72-96) vs 98 (86-108) ml/min/1.73 m2, p < 0.001], higher basal perfusion [25 (12-81) vs 14 (7-43) PU, p < 0.001], lower THmax [664 (137-1461) vs 1115 (346-1933) %, p = 0.002], higher PORHpeak [104 (59-167) vs 70 (48-135) PU, p < 0.001] as compared to subjects with normal ESC results. We found negative correlation between THmax and TG level (Rs = -0.14, p < 0.005), AF (Rs = -0.19, p = 0.001), vibration perception threshold - VPT (Rs = -0.24, p < 0.001) and positive correlation with HDL level (Rs = 0.14, p = 0.005), Feet ESC (Rs = 0.21, p < 0.001) and Hands ESC (Rs = 0.14, p = 0.004). We found positive correlation between PORHpeak and TG level (Rs = 0.14, p = 0.003), skin AF (Rs = 0.29, p < 0.001), VPT (0.27, p < 0.001) and negative correlation with eGFR (Rs = -0.2, p < 0.001), HDL (Rs = -0.12, p = 0.01), Feet ESC (Rs = -0.27, p < 0.001) and Hand ESC (Rs = -0.16, p = 0.002). CONCLUSION: Impaired microvascular reactivity is associated with sudomotor dysfunction in patients with type 1 diabetes.

The occurrence of dynamic structural disorders in the pharynx and larynx, at rest and during exercise, in horses diagnosed with mild and moderate Equine Asthma (Inflammatory Airway Disease).

The goal of the present study was to establish the occurrence of structural disorders in the larynx and pharynx during treadmill exercise tests in horses diagnosed with Equine Asthma (EA). Investigation was performed in 29 horses, patients of the Equine Clinic of the Warsaw University of Life Sciences in Poland, admitted with poor exercise performance. Upper and lower airway examinations were performed in all patients revealing both mild to moderate Equine Asthma (13 horses), and no lower airway abnormalities (16 animals). In the group of horses with EA, 11 did not have structural disorders of the pharynx and larynx at rest. During exercise two horses were free of abnormalities, while 11 had structural disorders, eight of them solely in the pharynx, two in the larynx, and one in both the pharynx and larynx. In the non- asthmatic group, 11 horses had no structural disorders during resting endoscopy. Endoscopy performed during exercise revealed disorders of the larynx in 10 horses, of the pharynx in three horses, and in both the larynx and pharynx in the remaining three horses. IN CONCLUSION: horses with diagnosed EA frequently have disorders of the pharynx during treadmill exercise tests, while without EA, often have disorders of the larynx. Endoscopy of upper airways during exercise testing is a valuable tool in the diagnosis of poor performance in horses with lower airway inflammatory disease.

Cytological evaluation of tracheal aspirate and broncho-alveolar lavage fluid in comparison to endoscopic assessment of lower airways in horses with recurrent airways obstruction or inflammatory airway disease.

The aim of the present study was to compare the grade of discharge accumulation in the tracheal lumen, area of tracheal bifurcation, main bronchi and the tracheal septum thickness with the cytology of the tracheal aspirate (TA) and broncho-alveolar lavage fluid (BALF) in horses with recurrent airways obstruction and inflammatory airway disease from those horses. This study was conducted on 96 horses with RAO, 139 horses with IAD and 10 control horses. In all the horses, both clinical and endoscopic examinations were performed. During endoscopy, a score of mucus accumulation was estimated in 3/4 lower of the trachea and in the tracheal bifurcation. In addition, thickening of the tracheal septum was also assessed; tracheal aspirates and broncho-alveolar lavage were performed. An estimate of cell percentage was done in TA and BALF samples. In horses suffering from RAO and IAD, there was a positive correlation between the percentage of neutrophils and the accumulation of discharge, and in the IAD group, there was a negative correlation between the percentage of eosinophils and the accumulation of discharge. There was no correlation between tracheal septum thickening and the percentage of neutrophils and/or eosinophils.

Usefulness of the assessment of discharge accumulation in the lower airways and tracheal septum thickening in the differential diagnosis of recurrent airway obstruction (RAO) and inflammatory airway disease (IAD) in the horse.

The aim of the present study was to use endoscopic evaluation to compare the grade of accumulation of discharge in the lower airways of horses with recurrent airway obstruction (RAO) and inflammatory airway disease (IAD), and to estimate the usefulness of endoscopic evaluation in differential diagnosis of these diseases. Endoscopic evaluation consists of: the amount of discharge in the lower part of the trachea and tracheal bifurcation, and the assessment of tracheal septum thickness. This study was performed on 248 horses, 10 were healthy, 97 were diagnosed as RAO, and 141 were diagnosed as IAD. In all animals both a clinical and endoscopic examination were performed. During endoscopy, a score of mucus accumulation was estimated in 3/4 lower of the trachea and in the tracheal bifurcation. In addition to this, thickening of the tracheal septum was also assessed. According to the results of this study, it was estimated that the accumulation of mucus in the lower airways was much more advanced in RAO horses compared to horses with IAD. In horses with RAO there was a marked thickening of the tracheal septum compared to IAD horses. The results indicate the efficacy of scoring the amount of mucus in the tracheal lumen and tracheal bifurcation, as well as the efficacy of the assessment of tracheal septum thickness in the diagnosis of these diseases.

Does serum cystatin C level reflect insulin resistance in patients with type 1 diabetes?

OBJECTIVES: The aim of study was to evaluate the relationship between serum cystatin C and insulin resistance (IR) in type 1 diabetic patients being the participants of Poznan Prospective Study. DESIGN AND METHODS: The study was performed on 71 Caucasian patients (46 men); with type 1 diabetes, who were recruited into the Poznan Prospective Study, at the age of 39±6.1 meanly, and treated with intensive insulin therapy since the onset of the disease. The follow-up period and diabetes duration were 15±1.6 years. Insulin resistance (IR) was assessed by estimated glucose disposal rate (eGDR) calculation with cut-off point 7.5 mg/kg/min. Patients were divided into two groups, according to the presence or absence of IR. RESULTS: From among 71 patients, 31 patients (43.7%) presented decreased sensitive to insulin with eGDR below 7.5 mg/kg/min. Patients who had eGDR <7.5 mg/kg/min (insulin resistant), compared with subjects with eGDR >7.5 mg/kg/min (insulin sensitive), had higher level of serum cystatin C [0.59 (IQR:0.44-0.84) vs 0.46 (IQR:0.37-0.55) mg/L, p=0.009]. A significant negative correlation between cystatin C and eGDR was revealed (Rs=-0.39, p=0.001). In regression model cystatin C was related to insulin resistance, adjusted for sex, BMI, eGFR and duration of diabetes [OR 0.03 (0.001-0.56), p=0.01]. CONCLUSIONS: Higher level of serum cystatin C is related to decreased insulin sensitivity in patients with type 1 diabetes. This relationship seems to have an important clinical implication.

Does glucagon stimulation test help to predict autoimmunity in newly diagnosed non obese adults with diabetes?

Classification of diabetes type in adults patients remains difficult. This study was undertaken to determine the relationship between presence of autoantibodies in the serum and the result of glucagon stimulation test in non obese patients at aged above 35 years with newly diagnosed diabetes.Study involved 52 non obese adults aged 42 years [interquartile range (IQR): 37-46], with body mass index (BMI) 23.7 kg/m2 (IQR: 21.4-26.2). Presence of autoantibodies to islet cells (ICA), antibodies to tyrosine phosphatase (IA-2), glutamic acid decarboxylase autoantibodies (anti-GAD) and plasma fasting and stimulating (6 min after intravenous injection of 1 mg glucagon) C-peptide level was assessed.73.1% subjects had at least 1 of 3 assessed autoantibodies, 26.9% patients were autoantibodies negative. According to serum C-peptide concentration after stimulation test with glucagon patients were divided into 2 groups. Receiver Operating Characteristic (ROC) Curve for determination of an optimal cut-point (C-peptide stimulation above and below 1.6) was used. In patients with negative stimulation test higher prevalence of 2 (33.3% vs. 66.7%; p=0.04) or 3 (12.5% vs. 87.5%, p=0.01) positive autoantibodies was noticed in comparison to patients with positive stimulation test. Multivariate logistic regression showed that presence of autoantibodies was independently associated with stimulated C-peptide level (OR 2.3; 95%CI: 1.07-5.28, p=0.03).Autoimmune diabetes should be suspected in subjects with lower response of ß- cell in glucagon stimulation test. If the C-peptide do not increase more than 1.6 after glucagon presence of autoanibodies is more probable.

Smoking and other factors associated with short-term partial remission of Type 1 diabetes in adults.

AIMS: The duration of partial remission of Type 1 diabetes is associated with the degree of initial metabolic disturbance and features of insulin resistance. Cigarette smoking decreases insulin sensitivity, but its influence on the length of remission is unknown. Therefore, this study assessed the relationship between cigarette smoking and duration of partial remission in adults with newly diagnosed Type 1 diabetes. METHODS: We recruited 149 patients (48 women and 101 men, aged 16-35 years, median age 25 years), admitted to a teaching hospital with newly diagnosed Type 1 diabetes and followed them for a median period of 1 year and 9 months. We introduced intensive insulin therapy in multiple injections (basal-bolus) in all patients. We defined partial remission as an insulin dose of ≤ 0.3 U/kg body weight/24 h, an HbA(1c) value < 53 mmol/mol (7.0%) and a random serum C-peptide concentration over 0.5 ng/ml. Cigarette smoking was determined by self-report. RESULTS: Of 149 patients, 68 (46%) fulfilled the criteria for partial remission at 1 year after diagnosis of diabetes. Fewer patients who were in partial remission at 1 year smoked (19/68, 28%) than did patients that were not in partial remission (41/81, 51%). In logistic regression analyses, non-smoking was associated with remission at 1 year independent of age, sex, HbA(1c) and presence of diabetic ketoacidosis, all measured at onset of diabetes (OR 3.32, 95% CI 1.42-7.75, P = 0.005). CONCLUSION: Relative to individuals in this study who smoked, those who did not smoke at diagnosis of Type 1 diabetes experienced a longer duration of partial remission.

Carotid intima-media thickness and arterial stiffness in type 1 diabetic patients are dependent on age and mean blood pressure.

AIM: The aim of the study was to assess the factors that influence carotid intima-media thickness (CIMT) and arterial stiffness in type 1 diabetic patients. MATERIAL AND METHODS: We included 87 type 1 diabetic patients (44 women, 43 men), median age 34 years, disease duration 10 years, HbA1c 8.2%. CIMT was measured using high resolution ultrasonography. Arterial stiffness was assessed with the use of digital volume pulse analysis and tonometric measurement of wave reflection and central haemodynamics. Serum C-reactive protein (hsCRP), matrix metalloproteinase-9 (MMP-9), soluble intracellular adhesion molecule-1 (sICAM-1) and myeloperoxidase (MPO) concentrations were also measured. RESULTS: CIMT and arterial stiffness correlated with age, duration of diabetes, systolic and diastolic blood pressure, GFR-glomerular filtration rate and sICAM-1. Multiple regression analysis identified only age as significant determinant of CIMT. Age, mean blood pressure and GFR, but not duration of diabetes were significant determinants of arterial stiffness. CONCLUSIONS: In type 1 diabetic patients both CIMT and arterial stiffness were related to age, blood pressure, kidney function and sICAM-1 serum concentration.

Insulin resistance is associated with microangiopathy in type 1 diabetic patients treated with intensive insulin therapy from the onset of disease.

AIM: The aim of the study was to evaluate the relationship between indirect parameters of insulin resistance (IR) and risk of microangiopathy in patients with type 1 diabetes (DM1), treated from the initial diagnosis with intensive insulin therapy. METHODS: The study group consisted of 81 patients with DM1 (51 men, 30 women), aged 34±6.4, and who were observed for 10±1.5 years. Indirect parameters of IR were evaluated: waist circumference, waist to hip ratio (WHR), body mass index (BMI), daily insulin requirement, gain of weight from the beginning of the disease, lipid profile, estimated glucose disposal rate (eGDR), inflammatory markers and features of metabolic syndrome. Patients were divided into two groups depending on the presence or absence of microangiopathy. RESULTS: In the group with microangiopathy (n=36) in comparison with patients without complications (n=45) we found: larger waist circumference (88.9±11.7 vs. 83.7±10.2 cm; p=0.036), higher weight before diabetes (77.3±17.0 vs. 67.0±12.5 kg; p=0.008), higher WHR (0.90±0.08 vs. 0.86±0.08; p=0.048), higher level of triglycerides (1.3±0.8 vs. 0.9±0.3 mmol/l; p=0.002) and lower eGDR (7.2±2.4 vs. 8.8±1.9 mg/kg/min; p=0.0019). In patients with microangiopathy, features of metabolic syndrome were found more often (12 (33.3%) vs. 4 (8.9%); p=0.006). A significant relationship, adjusted for sex, age and duration of diabetes, between eGDR and microangiopathy was revealed (OR 0.65 (95%CI 0.49-0.86); p=0.0037). CONCLUSION: The results show that in patients with DM1, treated from the initial diagnosis with intensive insulin therapy, there is an independent relationship between IR and the diabetic microangiopathy.

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

Germline mutations in the DNA mismatch repair genes MSH2 and MLH1 account for a significant proportion of hereditary non-polyposis colorectal cancer (HNPCC) families. One approach by which development of an efficient DNA-testing procedure can be implemented is to describe the nature and frequency of common mutations in particular ethnic groups. Two hundred and twenty-six patients from families matching the Amsterdam II diagnostic criteria or suspected HNPCC criteria were screened for MSH2 and MLH1 germline mutations. Fifty different pathogenic mutations were found, 25 in MSH2 and 25 in MLH1. Twenty-four of these had not previously been described in other populations. Among our 78 families with MSH2 or MLH1 mutations, 54 (69.2%) were affected by recurrent mutations including 38 found at least twice in our own series. Two of the most frequent alterations were a substitution of A to T at the splice donor site of intron 5 of MSH2 and a missense change (A681T) of MLH1 found in 10 and eight families, respectively. Among large deletions detected by the multiplex ligation-dependent probe amplification assay, exon 9 deletions in the MSH2 gene were found in two families. Our results indicate that a screening protocol specific for the Polish population that is limited to the detection of all reported mutations will result in the identification of the majority of changes present in MLH1 and MSH2 genes in Polish HNPCC kindreds.

[Evaluation of selected components in antioxidant systems of blood in patients with diabetes]. / Ocena wybranych ukladów antyoksydacyjnych we krwi chorych na cukrzyce.

Oxidative stress plays a major role in the development of chronic complications of diabetes. The aim of our study was to evaluate the selected components of the antioxidative system in well metabolically controlled diabetic patients. We also decided to assess the correlation between these parameters and duration of disease and the presence of it's late complications. The study was entered by 30 patients with type 1 diabetes (18 female and 12 male, aged 30.2 + 10.8 years with mean duration of disease 8.37 + 6.56 years, HbA1c 6.8 + 1.6%). 24 healthy, sex- and age-matched volunteers served as controls. We assessed the following parameters: reduced glutathione in erythrocyte lysate (colorimetric method by Bioxytech GSH-400), serum glutathione peroxidase (enzymatic immunological method by Bioxytech pl. GPx-EIA) and plasma superoxide dismutase activity (colorimetric method based on cytochrome c reduction). In comparison with controls, we found significantly higher reduced glutathione level (11.20 + 0.79 vs 3.92 + 0.62 mumol/l, p < 0.001) and markedly lower dismutase activity (27.49 + 1.32 vs 39.73 + 4.45 U/ml, p < 0.001). The levels of glutathione peroxidase did not differ significantly from values obtained in healthy subjects. We did not observe any correlation between the analysed parameters and duration of diabetes, HbA1c or presence of chronic complications of disease. The obtained results might indicate that antioxidative systems in the state of good metabolic control of diabetes have adaptive properties.

[Appearance of undiagnosed diabetes mellitus in the population of professionally active people in the urban areas]. / Wystepowanie cukrzycy nieznanej w populacji czynnych zawodowo osób w srodowisku miejskim.

Diabetes remains a great social and clinical problem. Therefore, there is a need to focus our efforts on prevention of the disease, especially of type 2 diabetes. Type 2 diabetes is characterized by accelerated development of atherosclerotic changes (macroangiopathy). Hyperglycaemia, hypertension, hyperlipidaemia and hyperfibrinogenaemia also play an important role in the development of macroangiopathy. Hyperinsulinemia, which accompanies the visceral type of obesity, is characteristic of type 2 diabetes. Considering all the above mentioned findings, prevention of type 2 diabetes should be based on the population level, concentrating especially on the groups with increased risk of obesity and/or diabetes (early primary prevention). However, in the present conditions, it seems that screening studies can be conducted only in the groups with high risk of type 2 diabetes (late primary prevention). They allow for relatively early detection of disturbances in carbohydrate metabolism. The aim of the study was to assess the prevalence of undiagnosed diabetes in the population of professionally active inhabitants in Pleszew. 2700 subjects, aged 35-65 years, entered the study. All patients claimed to be healthy. In the first phase of the study, the fasting capillary glycaemia was tested. Fasting blood glucose or oral glucose tolerance test was performed in all cases which fasting capillary glucose was higher then 5.5 mmol/l (100 mg/dl). The screening study revealed 91 cases with glycaemia higher than 6.8 mmol/l (3.4%). 387 subjects (14.3%) with glycaemia ranging from 5.5 to 6.8 mmol/l were qualified to perform the oral glucose tolerance test. Out of this group 138 persons did not come to the laboratory. Thus, the test was conducted in 249 causes (64.3%). The results obtained excluded another 197 subjects as no disturbances in the glucose metabolism were found. Based on the results of the oral glucose tolerance test 39 patients were diagnosed to have an impaired glucose tolerance (2 h glycaemia from 7.8 to 11.1 mmol/l) and in 13 cases diabetes was diagnosed (2 h glycaemia above 11.1 mmol/l). In conclusion, the screening study performed in professionally active adults aged > 35 years, who claimed to be healthy, clinically latent diabetes or impaired glucose tolerance was found in 5.3% cases. 92.8% patients with IGT or diabetes were obese or overweight (BMI > 25 kg/m2) and 32.4% had hypertension (RR > 140/90 mm Hg). In 64% of subjects the serum cholesterol concentration was higher than 5.2 mmol/l and in 18% subjects HDL cholesterol concentration was lower than 1.0 mmol/l and LDL cholesterol higher than 3.5 mmol/l. Elevated triglycerides concentration > 2.0 mmol/l was observed in 30%. In the group with newly diagnosed diabetes, mean age was 55.0 +/- 9.2 years. 27.9% had positive family history of diabetes, 26.5% were smokers, 44.1% were found to have disturbed lower limbs circulation and 30.9% had abnormal feeling of vibration, 7.8% patients with diabetes had symptoms of diabetic retinopathy and 20.1% had microalbuminuria. Body mass index (BMI) in newly diagnosed diabetic patients was 31.6 +/- 5.3 kg/m2 and waist to hip ratio (WHR) was 0.94 +/- 0.41 and indicated the visceral type of obesity. Mean fasting glycaemia was equal 7.26 +/- 1.93 mmol/l and mean HbA1c value was 6.2 +/- 0.7%. It exceeded the laboratory normal value in 17.6% of cases. In 91 patients with fasting glycaemia higher then 15.5 mmol/l insulinaemia was also assessed; its level was elevated in 10 patients. The project of study was prepared in 1996. However, in 1999 the new criteria for diagnosis and treatment of type 2 diabetes were established. The results of the performed study indicate that screening towards diabetes should be performed in subjects aged > 35 years with overweight or obesity and at least one additional risk factor of arteriosclerosis.

[Evaluation of glucose, insulin, C-peptide uric acid serum levels in patients with psoriasis]. / Ocena stezenia glukozy, insuliny, peptydu C i kwasu moczowego w surowicy chorych na luszczyce pospolita.

The aim of our study was to estimate the serum levels of glucose, insulin, C-peptide and uric acid in patients with psoriasis before and after treatment. The study included 12 males with active form of psoriasis and 15 control subjects carefully matched to the psoriatic patients for age and BMI. All measured parameters were in patients with psoriasis significantly increased and dependent on the BMI. Compared with pretreatment values of glucose and uric acid were significantly lower during therapy. The increase in the mean C-peptide and insulin levels after psoriasis therapy was constant and independent from clinical stage of disease. The results of the present study have provided evidence for the importance of impaired glucose and purine metabolism in patients with psoriasis in the increase risk of development of diabetes mellitus and hypertension.

[Evaluation of expression of polymorphonuclear neutrophil surface receptors in patients with type 1 diabetes]. / Ocena ekspresji receptorów powierzchniowych granulocytów obojetnochlonnych u chorych na cukrzyce typu 1.

UNLABELLED: Polymorphonuclear neutrophils (PMN) play an important role in the pathogenesis of diabetic microvascular complications. Stimulation of these cells is associated with the appearance of specific receptors on their surface. The aim of the study was to evaluate the expression of the receptors specific for PMN: CD 11b, CD 18. The study was performed in a group of 23 type 1 diabetic patients, aged from 19 to 47 years (mean 30.7 +/- 8.6 years), including 15 females and 8 males (mean diabetes duration time 13.7 +/- 7.5 years; mean HbA1c 7.9 +/- 2.5%). The expression of PMN surface receptors was measured by flow cytometry using a ORTHO DIAGNOSTIC SYSTEM cytofluorimeter. The results were presented as a PMN percentage indicating expression of CD 11b and CD 18. In comparison to healthy controls, there was a significant increase in the number of PMN, both with CD 11b and CD 18 receptors present--(CD 11b: 93.2 +/- 3.4 vs 98.0 +/- 1.9% p < 0.05), (CD 18: 98.5 +/- 0.47 vs 99.4 +/- 0.7%, p < 0.05). CONCLUSION: In patients with type 1 diabetes, PMNs demonstrate a pronounced expression of surface receptors which may indicate an enhanced activity of these cells. The increase of expression of surface receptors is independent of diabetes duration time and HbA1c.

Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland.

Germline mutations in the BRCA1 and BRCA2 genes account for the majority of high-risk breast/ovarian cancer families, depending on the population studied. Previously, BRCA1 mutations were described in women from Western Poland. To further characterize the spectrum of BRCA1 mutations and the impact of BRCA2 mutations in Poland, we have analyzed 25 high-risk breast and/or ovarian cancer families from North-Eastern Poland for mutations in all coding exons of the BRCA1 and BRCA2 genes, using combined heteroduplex analysis/SSCP followed by direct DNA sequence analysis. Out of 25 probands a total of five (20%) carried three recurrent BRCA1 mutations (300T>G, 3819del5, 5382insC). The 300T>G mutation accounted for 60% (3/5) of BRCA1 mutations and allelotyping suggested a common founder of this mutation. No unique mutations were found. In addition, we identified three BRCA2 (12%) mutations, one recurrent 4075delGT, and two novel frameshift mutations, 7327ins/dupl19 and 9068delA. We conclude that 30% of high-risk families from North-Eastern Poland may be due to recurrent BRCA1 and unique BRCA2 mutations. Intriguingly, the BRCA1 mutation spectrum seems to be different within subregions of Poland.

[Clinical significance of cytogenetic examinations in squamous cell carcinomas of the head and neck]. / Znaczenie kliniczne badan cytogenetycznych w rakach plaskonablonkowych glowy i szyi.

The karyotypes of head and neck cancer usually display complex chromosomal aberrations. There is no specific aberration in this type of cancer, although the rearrangement of chromosome 11 involving the band 11q13, often with its amplification, seems to be significant. Unfavourable prognostic factors are complex karyotype, aneuploidal DNA content and the rearrangement or amplification of 11q13 and are associated with shorter survival. Diploid DNA content is prognostically favourable in this type of neoplasm.

The occurrence of cerebellar hemangioblastoma in numerous first degree relatives with von Hippel-Lindau disease.

Von Hippel-Lindau disease is an autosomal dominant disorder caused by a mutation of VHL gene. The incidence of the disease is one in 36,000 and its clinical manifestation is a familial occurrence of hemangioblastoma of the central nervous system and retina, renal cell cancer and pheochromocytoma. Cerebellar hemangioblastoma is the most frequent or sometimes the only abnormality observed in this syndrome. We present a family with von Hippel-Lindau disease in which four first degree relatives had a cerebellar hemangioblastoma. This neoplasm caused the death of two brothers aged 27 and 24 years old, respectively and their mother aged 62. The third son of this family was affected ten years ago, at the age of 30. The healthy family members are counselled in Oncological Genetic Outpatient Unit in Gdansk.