Bilateral Renal Angiomyolipomas and Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex: a Case Report and Review of The Literature.

Tuberous sclerosis complex (TSC) is an autosomal-dominant multi system disorder. The genetic basis of the disorder is mutations in the TSC1 or TSC2 gene, which leads to over activation of the mammalian target of rapamycin (mTOR) protein complex and results in development of benign tumors in different body systems such as brain, skin, lungs and kidney. The mTOR inhibitors are presently the main treatment option for patients with TSC. We here report a 21-year female patient with large bilateral angiomyolipoma (AML) in both kidneys with longest diameter more than 12.3 cm and subependymal giant cell astrocytoma (SEGA). Treatment with everolimus (EVE) was initiated at a dose of 10.0 mg/day and continued during the following 3 years. Magnetic resonance imaging (MRI) was performed before treatment with everolimus was initiated, and consequently at 12 and 36 months for follow-up of the efficacy of the treatment. After 3 years, the total size of largest AML decreased by ~24.0% in the longest diameter. A reduction of the total size of SEGA was also observed. The most common adverse effect of treatment was stomatitis grades 3 to 4 and one febrile episode associated with skin rash that required a reduced dose of EVE. In conclusion, the everolimus treatment improved even such a large renal AML and the effect persisted during the long-term administration with a small number of adverse effects. A positive effect was observed on the brain tumor as well.

Operative treatment of degenerative lumbar spine spondylolisthesis.

INTRODUCTION: Management of degenerative lumbosacral spondylolisthesis with spinal stenosis is still controversial. Surgery is widely used, as well as non-surgical treatment. AIM: To evaluate the clinical results and functional outcome after operative treatment in Grade II and III lumbar spine spondylolisthesis. MATERIAL AND METHODS: Twelve patients with symptoms and image-confirmed degenerative spondylolisthesis entered the study. Mean patient age was 57 years. Spondylolisthesis Grade II or III, segment L4-L5 or L5-S1 were evaluated. All patients underwent similar protocols. Operative treatment was decompressive laminectomy, posterior one segment fixation, and fusion with autologous bone grafting. Functional outcome measures were Visual Analog Scale (VAS, 10-point scale) and Oswestry Disability Index (ODI, 100-percent scale) after 6 and 12 months. RESULTS: Patient follow-up was 12 months. Preoperatively, 7 patients had severe disability according to ODI, 4 had moderate disability. VAS measured 6 and 7 points in 6 patients, lowest score of 4 points and the highest score of 9. After 6 months, ODI showed 5 patients had minimal and 7 had moderate disability; 2 patients had 0 points on the VAS, 2 had a score of 1, 4 had a score of 2, highest score of 4 points. Treatment outcome effects after 1 year were 9 patients with minimal disability, 3 with moderate; VAS - 2 patients with O points, 3 with 1 point, 4 with 2 points. CONCLUSION: Patients with degenerative spondylolisthesis and spinal stenosis treated surgically showed substantially greater improvement in pain and functional outcome during a period of 1 year.

Xerostomia and salivary levels of glucose and urea in patients with diabetes.

Examination of the composition of saliva in patients with diabetes may be useful for understanding why oral manifestations occur and how they should be treated. The purpose of this study was to determine the degree of severity of xerostomia, salivary concentrations of glucose and urea in patients with insulin-dependent diabetes, and to determine the correlation between xerostomia and salivary glucose levels. For the realization of this goal, the study included 60 patients of both sexes aged 30-70 years. The sample was divided into two groups. The first, experimental, group consisted of 30 patients who had insulin-dependent diabetes mellitus. The control group consisted of 30 subjects who were not suffering from diabetes. To determine the degree of severity of xerostomia among all respondents a questionnaire recommended by Carda was used. From all patients in both the control and experimental group, total saliva was collected for 10 minutes for biochemical analysis in accordance with the recommendations of Navazesh. Salivary glucose was determined by using the enzymatic method with a hexokinase (mmol/l), and salivary urea by using the kinetic method with urease and glutamate dehydrogenase (mmol/l). Varying degrees of xerostomia were noticed in 80% of the experimental group and only 10% of the control group. In diabetics, we found significantly higher levels of urea (2.36 mmol/l) and glucose (0.022 mmol/l) in the saliva compared with the values of these parameters (1.48 mmol/l, 0017 mmol/l) in the control group. Based on these results, we concluded that diabetes is a disease that causes xerostomia and there is a significant correlation between the degree of xerostomia and the salivary level of glucose.

Atherosclerosis risk factors related to hemodialysis duration and erythropoietin therapy.

Patients undergoing hemodialysis are at risk for atherosclerosis and its complications. The aim of this study was to examine the effect of erythropoietin therapy and hemodialysis duration on some of the atherosclerotis risk factors. The patients were divided into four groups: I: patients undergoing hemodialysis for less than 10 years (n=22); II: patients undergoing hemodialysis for more than 10 years (n=17); III: patients on no erythropoietin (n=21); IV: patients on erythropoeitin therapy (n=18). A control group of 20 subjects was also examined. Triglycerides, total cholesterol, low-density lipoprotein and high-density lipoprotein, lipoprotein(a), apolipoprotein-A1, apolipoprotein-B and lipid peroxidation were examined. There was a significant increase in triglycerides, to 2.59+/-1.2 mmol/l (p<0.001) and in lipid peroxidation in hemodialysis patients, to 5.02+/-0.9 micromol/l vs. controls (p<0.001). Significantly elevated triglycerides and lipid peroxidation levels were found in the patients with longer hemodialysis duration. Triglycerides were elevated in group II vs. group I, to 2.90+/-1.0 mmol/l. (p<0.05). Lipid peroxidation in group II, 5.40+/-1.0 micromol/l, showed significant difference compared to group I (p<0.05). Erythropoietin treatment did not affect any of the examined parameters. These results indicate increased risk for atherosclerosis related to hemodialysis duration. Besides the renal disease itself, hemodialysis may also be one of the risk factors for atherosclerosis.

G gamma A gamma(delta beta)zero-thalassaemia and a new form of gamma globin gene triplication identified in the Yugoslavian population.

Among several hundred apparently healthy Yugoslavian adults with slightly elevated levels of fetal haemoglobin, we have identified two distinct abnormalities. (a) A G gamma A gamma(delta beta)0-thalassaemia heterozygosity with an approximately 15 kb deletion which involves part of the delta globin gene and the beta globin gene. This deletion is probably the same as that seen among Italians (Ottolenghi et al, 1982; Carè et al, 1984). (b) A nondeletion form of hereditary persistence of Hb F which is caused by a gamma globin gene triplication of the (+)G gamma.(+)G gamma.A gamma type. It is characterized by the presence of some 5% Hb F in the heterozygote containing nearly 100% G gamma chains. The C----T mutation at position--158 5' to the G gamma chain [(+)G gamma], identified through analyses of Xmn I digests, was present at both G gamma globin genes. This mutation is known to be associated with increased G gamma chain production (Gilman & Huisman, 1985), and thus is responsible for the increased G gamma chain production in these heterozygotes. The condition is different from the (+)G gamma.(+)G gamma nondeletion type of HPFH which has been observed in heterozygotes of two Black families, and is associated with the presence of 3-4% Hb F (with mainly G gamma chains) in heterozygotes.