Variant ranking pipeline for complex familial disorders.

Identifying genetic susceptibility factors for complex disorders remains a challenging task. To analyze collections of small and large pedigrees where genetic heterogeneity is likely, but biological commonalities are plausible, we have developed a weights-based pipeline to prioritize variants and genes. The Weights-based vAriant Ranking in Pedigrees (WARP) pipeline prioritizes variants using 5 weights: disease incidence rate, number of cases in a family, genome fraction shared amongst cases in a family, allele frequency and variant deleteriousness.

Acute Anterior Choroidal Artery Territory Infarction: A Case Series Report.

Due to the occlusion of the anterior choroidal artery (AChA), ischemic strokes are described with the classic clinical triad, namely hemiplegia, hemianesthesia, and homonymous hemianopsia. The aim of this study is to document the characteristic clinical presentation and course of AChA infract cases. We describe five cases with acute infarction in the distribution of the AChA, admitted to the Neurological Department of the University General Hospital of Larissa.

Gene and pathway based burden analyses in familial lymphoid cancer cases: Rare variants in immune pathway genes.

Genome-wide association studies have revealed common genetic variants with small effect sizes associated with diverse lymphoid cancers. Family studies have uncovered rare variants with high effect sizes. However, these variants explain only a portion of the heritability of these cancers.

Whole genome sequencing of Canadian Saccharomyces cerevisiae strains isolated from spontaneous wine fermentations reveals a new Pacific West Coast Wine clade.

Vineyards in wine regions around the world are reservoirs of yeast with oenological potential. Saccharomyces cerevisiae ferments grape sugars to ethanol and generates flavor and aroma compounds in wine. Wineries place a high-value on identifying yeast native to their region to develop a region-specific wine program.

Bilateral Vocal Cord Palsy as the Only Symptom of Thymoma Associated-Myasthenia Gravis.

Bilateral vocal cord paresis is a rare phenomenon caused by different underlying etiologies. Myasthenia gravis is included in this long differential diagnosis. Usually, it happens as part of a serious clinical state of a patient, that also suffers from generalized muscle weakness, diplopia, dysphagia, eyelid ptosis.

Fahr's syndrome due to hypoparathyroidism revisited: A case of parkinsonism and a review of all published cases.

Introduction: Fahr's syndrome due to hypoparathyroidism refers to bilateral basal ganglia (BG) calcifications and manifests with movement disorders, seizures, cognitive and behavioral symptoms.

Case Presentation: We report a case of a 74-year-old woman, who presented with parkinsonism due to post-surgical hypoparathyroidism and normal DaT scan, despite extensive calcifications of the BG, periventricular white matter, and cerebellum.

Methods: A comprehensive literature review of all reported cases of Fahr's syndrome due to hypoparathyroidism was conducted in the electronic databases PubMed and Web of science.

Posterior reversible encephalopathy in a GT1a positive oculopharyngeal variant of Guillain-Barré syndrome: A case-report and review of the literature.

Guillain-Barre syndrome (GBS) is the most common cause of acute flaccid paralysis and its incidence increases with age, although all age groups can be affected. The cranial subtypes of GBS account for approximately 5% of cases. Posterior reversible encephalopathy syndrome (PRES) is an acute neurological disorder, mostly reversible but with increased morbidity with permanent neurological sequelae in severe cases.

ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population.

Background: Α number of genetic variants have been associated with amyotrophic lateral sclerosis (ALS). A recent study supports that rs591486 across the ERCC6L2 gene and exposure to pesticides seem to have a joint effect on the development of Parkinson's disease, a disease which shares a few common characteristics with ALS.

Objective: To detect a possible contribution of rs591486 ERCC6L2 to ALS.

Replication study of GWAS risk loci in Greek multiple sclerosis patients.

Objectives: To validate in an ethnically homogeneous Greek multiple sclerosis (MS) cohort, genetic risk factors for the disease, identified through a number of previous multi-ethnic genome-wide association studies (GWAS).

Methods: A total of 1228 MS cases and 1014 controls were recruited in the study, from 3 MS centers in Greece. We genotyped 35 susceptibility SNPs that emerged from previous GWAS or meta-analyses of GWAS.

Assessment of Parkinson's disease risk loci in Greece.

Genome-wide association studies (GWAS) have been shown to be a powerful approach to identify risk loci for neurodegenerative diseases. Recent GWAS in Parkinson's disease (PD) have been successful in identifying numerous risk variants pointing to novel pathways potentially implicated in the pathogenesis of PD. Contributing to these GWAS efforts, we performed genotyping of previously identified risk alleles in PD patients and control subjects from Greece.

Perimetric and retinal nerve fiber layer findings in patients with Parkinson's disease.

Background: Visual dysfunction is common in Parkinson's disease (PD). It remains, however, unknown whether it is related to structural alterations of the retina. The aim of this study is to compare visual field (VF) findings and circumpapillary retinal nerve fiber layer (RNFL) thickness in a series of PD patients and normal controls, in order to assess possible retinal anatomical changes and/or functional damage associated with PD.

T2 FLAIR Increased Signal Intensity at the Posterior Limb of the Internal Capsule: Clinical Significance in ALS Patients.

Amyotrophic lateral sclerosis (ALS) is characterized by progressive upper and lower motor neuron degeneration. A hyperintense signal on T2-weighted images along the corticospinal tract has been reported in patients with confirmed ALS. However, the specificity of this finding is under consideration, since it is also identified in healthy controls.

Interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms in Greek multiple sclerosis (MS) patients with bout-onset MS.

We investigated the association of specific polymorphisms of the interleukin IL-1b (AvaI -511 and TaqI +3,953) and IL-1 receptor antagonist (IL-1RN) (a variable number of tandem repeats; VNTR) genes with both the susceptibility to and the clinical characteristics in Greek multiple sclerosis (MS) patients cohort with bout-onset. Genotypes were determined from 351 patients with clinically definite MS and 375 age- and sex-matched healthy controls. Our results showed no significant differences in the distribution of these polymorphisms between MS patients and controls.

Spinal anesthesia: comparison of plain ropivacaine, bupivacaine and levobupivacaine for lower abdominal surgery.

This study was performed to compare the anesthetic efficacy and safety of three local anesthetic agents: racemic bupivacaine and its two isomers: ropivacaine and levobupivacaine, in patients undergoing lower abdominal surgery. One hundred-twenty patients, ASA I-III, were randomized to receive an intrathecal injection of one of three local anesthetic solutions. Group A (n = 40) received 3 ml of isobaric bupivacaine 5 mg/ml (15 mg).

Low RLS prevalence and awareness in central Greece: an epidemiological survey.

Restless legs syndrome (RLS) is a sensorimotor disorder with a general population prevalence of 3-10%. A single, previous epidemiological study performed in south-east Europe reported the lowest prevalence rate amongst European countries. We conducted a population-based survey of RLS in central Greece.

Relationship between anemia, cardiac troponin I, and B-type natriuretic peptide levels and mortality in patients with advanced heart failure.

Background: Anemia has been associated with worse symptoms and increased mortality in patients with advanced HF. The association between anemia and biomarkers of increased HF risk is unknown. This study aimed to evaluate the relationship between hemoglobin (Hb), cardiac troponin I (cTnI), B-type natriuretic peptide (BNP), and mortality in patients with advanced heart failure (HF).