The new diagnostic test for dystonia

Dystonia is the debilitating movement disorder of central nervous system, often inherited, appearing as involuntary movements that occur due to deficiency or excess of neurotransmitters. The penetrance of dystonia is 30%, which means, that inherited dystonia is manifested only in 30% of mutating gene carriers, while the rest suffer from latent forms, so called forms frustes of this disorder. Until now only few mutations responsible for dystonia, had been unveiled, but we expect to exist up to 100 such mutations. Unless we uncover all mutations responsible for dystonia, we require reliable test for diagnosing latent forms of dystonia; and this necessity explains the importance of present study. The purpose of this research was to elaborate discrimination of dystonia on the basis of biogenic amines exchange peculiarities. The study presents the observational case control study. The control group was randomly composed of those patients, who were checked for neuroglial tumors. We checked catecholamines and serotonin metabolites in plasma and urine of 12 dystonia patients main group by means of chromatography method and compared the results obtained from these two groups by means of the decision tree method, discriminant analysis, and factor analysis. We revealed increased serotonin turnover in dystonia, and on the base of those increased metabolites in plasma, such as 5-hydroxytryptophane and 5-hydroxiindolacetic acid, by means of advanced statistical methods we eleborated sensitive and specific test for diagnosis of dystonia. We recommend introducing into clinical practice of diagnostic tests for dystonia on the base of analysis of diagnosing level in plasma of 5-hydroxytryptophane and 5-hydroxiindolacetic acid by means of discriminant analysis and classification tree method due to high sensitivity and high specifity of those methods.

Urinuntersuchung – Schritt für Schritt

The examination of the urine is the oldest and a very basic technique for every nephrologist. It helps to detect, diagnose and classify diseases of the kidneys and the urinary tract. Proteinuria is an important sign of kidney disease and an own factor in the pathophysiology of renal progression. Acanthocytes in the urine (> 5 %) have a high specifity (98 – 100 %) for diagnosing a glomerular hematuria.

Detection of fimC gene as fingerprinting for Salmonella typhimurium isolates by using Polymerase Chain Reaction

A total of 480 fecal samples were collected from children (less than 3 years old) , ofboth sexes suffering from diarrhea who admitted to The Teaching Hospital of Maternity andPediatrics in Al- Diwaniya governorate, Salmonella spp. were isolated and identified usingbacterial culturing on selective media, in addition to, biochemical and Mini API 20E andserotyping by monovalent antisera. Polymerase chain reaction (PCR) was used to detect fimCgene encoding for biosynthesis of fimC of Salmonella typhimurium. The results revealed thatthe rate of Salmonella isolates in fecal samples of patients were (38/480) 7.9% using culturaland Mini API20 E, The results of serotyping revealed that isolates there were 34 belong toSalmonella spp. Of these isolates 30 belong to S . typhimurium, while the remainingbelong to S. enteritidis ( 2 isolates) and S. meunchen (2 isolates), when the PCR techniquewas used to detect the presence of fimC gene, 32 Salmonella isolates were belong to S.typhimurium appeared to contain this gene . The results of this study revealed that thePCR technique had a high specifity (100%) in detection of S. typhimurium in comparison toserotyping.

Association of therapy with sunitinib and treatment-related hyperparathyroidism in renal cell carcinoma

e16023 Background: Targeted therapies have been thought to combine high potency with high specifity. With increasing experience with multitargeted tyrosine kinase inhibitors (MTKI) recent findings suggest various interactions with physiological organ functions. Here, we report on abnormalities of the mineral metabolism in patients with renal cell carcinoma (RCC) treated with MTKI. Methods: We identified a total of 61 patients with metastatic RCC and evaluable markers of bone metabolism, which were either treated at our institution (N=53) or followed (N=8) during March 2005 and December 2008. Chemistry and parathyroid hormone (PTH) tests were assessed retrospectively. Patients received either sunitinib (4 weeks on/2 weeks off schedule) or sorafenib (continuous dosing) for metastatic disease. PTH, calcium and phosphate were either determined prior to, during and in some cases after completion of therapy with MTKI. Statistical analyses included either student's t-test or one-way ANOVA. Results: Of 61 evaluable patients, 47 received sunitinib, 6 sorafenib, and 8 patients follow-up only. Mean phosphate levels significantly decreased during treatment from 1.151 (CI 1.077–1.224) to 0.9264 (CI 0.844–1.008) (P<0.0001), whereas mean calcium levels remained unchanged (2.37; CI 2.30–2.44 and 2.36; CI 2.28–2.43 mmol/l, respectively). Treatment with MTKI resulted in increased mean levels of PTH (118.3; CI 91.37–145.2), when compared to baseline 43.52 (CI 30.94–56.10) (P<0.0001). In 4 patients additional values after end of therapy were evaluable, which showed reversible PTH increase (42.7; CI 7.473–77.93). Increase of PTH remained significant for treatment with either sorafenib or sunitinib (P0.05). Conclusions: Treatment with MTKI is associated with dysregulated parathyroid axis, which may have clinical implications in a number of patients and therefore should be monitored throughout the treatment. The mechanism for hormone disturbances remains elusive, but may involve the PDGFR, which plays a major role in transmitting signaling of the bone metabolism. [Table: see text]

Capillary Microscopic and Rheological Dimensions for the Diagnosis of von Willebrand Disease in Comparison to other Haemorrhagic Diatheses

SummaryIt is known that angiodysplasia influence macrocirculation as well as microcirculation in patients with vWD. In the present study it was examined if intravital capillary microscopic dimensions (morphologic and dynamic) in skin (nailfold) in combination with rheologic parameters could give indications for the presence of vWD in patients with haemorrhagic diathesis.Patients with vWD (n = 100; 92 type 1: definite type 1:78 and possible type 1:14; 8 type 2A) have in comparison to patients with other haemorrhagic diathesis [thrombocytopathy (n = 122), thrombocytopenia (n = 101), severe haemophilia A (n = 50) and severe haemophilia B (n = 20), congenital dysfibrinogenaemia (n = 22), oral anticoagulation with phenprocoumone (n = 112)] and to apparently healthy subjects (n = 100) a significantly increased capillary torquation (median index: 3.5), a venolar and an arteriolar capillary dilatation (median: 16.5 µm; median: 15.1 µm) and the highest part of microscopic bleedings (extravasates) with 40% in the video capillary microscopy as morphological changes. Only the congenital dysfibrinogenaemia appears with a larger dilatation in venolar capillaries (median: 14.5 µm). Microscopic bleedings are much less common in other haemorrhagic diatheses with a frequency between 4% and 13%.In the vWD a significantly reduced duration of reactive hyperaemia (median: 150 sec). This is the only dynamic change that can be taken as a possible hint for a loss of flexibility within the precapillary vessels. A significantly reduced plasma viscosity (< 1.25 mPas) is typical for the vWD due to the increase of the shear stress in blood plasma because of the reduction of vWF-activities. Changes of the capillary morphology (dilatation, extravasates, capillary torquation) and the hypoplasmaviscosity are most sensitive for the vWD (75%, 65%, 40%, 80%) with a fairly high specifity (up to 93%) and a positive predictive value of 99%.As a conclusion it seems reasonable to discuss the introduction of video capillary microscopy as a screening test for haemostasiological and angiological centers.

Effect of Substrate on Indirect Immunofluorescence Test for Canine Pemphigus Foliaceus

The effect of substrate on indirect immunofluorescence (IIF) tests for the detection of circulating autoantibodies was studied by examining sera from 14 canine pemphigus foliaceus patients, six sera with non-pemphigus dermatoses and ten normal dog sera against five different substrates from three species. These substrates included bovine esophagus, bovine nose, bovine tongue, monkey esophagus, and canine nose skin. Nine out of 14 (64.3%) sera from patients with canine pemphigus foliaceus showed intercellular space staining by indirect immunofluorescence using bovine esophagus as substrate. However, sera from nonpemphigus dermatoses and normal dog did not react with bovine esophagus. In other substrates, only bovine tongue showed 1/8 (12.5%) positive reaction at the intercellular space by sera from canine pemphigus foliaceus. Dog nose skin showed the intercellular space staining against ten of ten (100%) normal dog serum. Monkey esophagus showed the fluorescent deposit at the intercellular space in four of nine (44.4%) of pemphigus foliacues dog sera, however, four of ten (40%) of normal dog sera revealed nonspecific intercellular staining. These results indicate that the sensitivity and the specifity of IIF test in canine pemphigus foliaceus depend on the substrate. The best substrate for detecting circulating autoantibody in canine pemphigus foliaceus patients among five different substrates was bovine esophagus because of its sensitivy and high specifity. The diagnosis of canine pemphigus foliaceus should be made on the basis of a combination of clinical signs, histopathology, direct immunofluorescence, and the detection of circulating autoantibody.

Isolation And Partial Characterization Of An L -Amino Acid Oxidase And Of Photosystem Ii Complexes From The Cyanobacterium Synechococcus PCC7942

An L-amino acid oxidase with high specifity for basic L-amino acids was isolated from the cyanobacterium Synechococcus PCC 7942, and the enzyme was partially characterized. This enzyme was compared to the previously described L-amino acid oxidase from Synechococcus PCC6301 (G. Wälzlein, A. E. Gau, and E. K. Pistorius, Z. Naturforsch. 43c, 5 4 5-553, 1988). In addition, photosystem II complexes were isolated from Synechococcus PCC 7942, and it could be shown that a 36 kDa polypeptide which crossreacts with the antiserum raised against the L-amino acid oxidase (50 kD a) is present in isolated PS II complexes from Synechococcus PCC 7942 as already shown to be the case for Synechococcus PC C 6301 (A. E. Gau, G. W älzlein, S. Gärtner, M. Kuhlmann, S. Specht, and E. K. Pistorius, Z. Naturforsch. 44c, 9 7 1 -9 7 5 , 1989). These results clearly show that in isolated photosystem II complexes from Synechococcus PCC 6301 as well as PCC 7942 a fourth polypeptide (besides D 1, D 2 and the manganese stabilizing protein) is present in the 30 kDa region and support our hypothesis suggesting that the water oxidizing enzyme is a separate protein (distinct from D 1 and D 2)