Using partial decision trees to predict Parkinson's symptoms: a new approach for diagnosis and therapy in patients suffering from Parkinson's disease.

In this work we present a method based on partial decision trees and association rules for the prediction of Parkinson's disease (PD) symptoms. The proposed method is part of the PERFORM system. PERFORM is used for the treatment of PD patients and even advocate specific combinations of medications. The approach presented in this paper is included in the data miner module of PERFORM. A patient performs some initial examinations and the module predicts the future occurrence of the symptoms based on the initial examinations and medications taken. Using the method, the expert can prescribe specific medications that will not cause, or postpone the appearance of specific symptoms to the patient. The approach employed is able to provide interpretation for the predictions made, by providing rules. The models have been developed and evaluated using real patient's data and the respective results are reported. Another functionality of the data miner module is the extraction of rules through a user friendly interface using association rule mining algorithms. These rules can be used for the prediction analysis of patient's reaction to certain treatment plans. The accuracy of the symptoms' prediction ranges from 57.1 to 77.4%, depending on the symptom.

Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.

BACKGROUND: Familial Hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum low-density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from mutations in the low-density lipoprotein receptor (LDLR) gene. Furthermore, there are 3 additional genetic disorders that cause clinical syndromes that mimic FH. These are: 1) familial ligand-defective apolipoprotein (apo)-B (FLDH), 2) familial hypercholesterolaemia type 3 (FH3) and 3) autosomal recessive hypercholesterolaemia (ARH). The aim of this study was to elaborate the impact of the above genetic disorders in Greek patients with a clinical diagnosis of FH. METHODS: In this study, we assessed the contribution of the LDLR, Apo B, ARH and PCSK9 genes in the expression of FH in North-western Greece. Two hundred and fifty-four (254) probands with a clinical diagnosis of FH were included in the study. RESULTS: One hundred and sixty-nine (169) patients had one of the following LDLR gene mutations: 81T>G, 1775G>A, 517T>C, 858C>A, 1352T>C, 1285G>A, 761A>C, 1195G>A, 1646G>A and a deletion mutation g.387-410del24 in exon 4. We sequenced the Apo B, ARH and PCSK9 genes in 40, randomly selected patients, from the 85 patients with no identified LDLR gene defects. In these 40, randomly selected patients, with the exception of benign single nucleotide polymorphisms, no functional mutations were identified for all the above mentioned sequenced genes. CONCLUSION: Our results reveal substantial genetic heterogeneity for FH in North-western Greece with at least ten LDLR gene mutations present in the study population. One of these mutations although quite rare is reported here for the first time in the scientific literature. The detection of these mutations is important as they may be used to design multiplex detection assays for large scale population screening programmes to facilitate primary and secondary prevention of cardiovascular disease in the region. Finally, ARH, Apo B and PCSK9 gene defects were excluded from causing FH in a subgroup of the study population indicating that other yet unrecognized genes may be involved in causing the clinical feature of FH, and/or that large scale deletions/duplications evaded the applied mutation detection techniques of this study.

Cerebral venous thrombosis in an adolescent with ulcerative colitis.

We describe a 17-year-old Caucasian adolescent with ulcerative colitis who presented with cerebral venous sinus thrombosis. Laboratory investigation revealed low protein S levels. With successful management the patient remained without neurologic sequalae. Although there may be an association between ulcerative colitis and cerebral venous sinus thrombosis, the exact pathophysiologic mechanism remains unknown.

Characterization of low density lipoprotein receptor (LDLR) gene mutations in Albania.

INTRODUCTION: Familial hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol (TCHOL) levels due to an increase in low-density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from mutations in the low-density lipoprotein receptor (LDLR) gene. So far, more than 800 mutations have been reported for the LDLR gene and account for FH. The nature of LDLR gene mutations varies among different ethnicities. Until now no mutations of LDLR have been reported in the Albanian population. MATERIAL AND METHODS: We assessed the contribution of the LDLR gene mutations as causes of FH in an Albanian population. Fifty probands with a clinical diagnosis of FH were included. We analysed all the exons and the promoter of the LDLR gene by using restriction isotyping or direct sequencing. RESULTS: Twenty-one patients were heterozygous for the 1646G>A mutation (FH Genoa) in exon 11 and 9 patients were heterozygous for the 81T>C mutation in exon 2 of the LDLR gene. CONCLUSIONS: This report describes two LDLR gene mutations accounting for FH in Albania (1646G>A, 81T>C).

Cerebral venous thrombosis in a patient with sarcoidosis.

Cerebral venous thrombosis (CVT) may present with a variety of symptoms and findings consisting of either only persistent headache, or slowly progressive stroke over several days, or even coma. CVT may develop in relation to hypercoagulable states. However, even after extensive investigation, a predisposing factor could not be identified in some cases. We report a case of CVT associated with heterozygous V Leiden mutation and sarcoidosis. Since most factor V gene heterozygous individuals do not exhibit clinical thrombotic events, the venous thrombosis of our patient suggests convergence of an inherited predisposition (heterozygous factor V Leiden mutation) with an acquired thrombogenic stimulus (sarcoidosis). Early diagnosis and treatment with anticoagulation is pivotal for a favorable outcome.