The utilization of Alvarado, AIR and RIPASA scoring systems in adults with acute appendicitis treated with laparoscopic appendectomy

The purpose of this study is to evaluate the applicability of Alvarado, Appendicitis Inflammatory Response (AIR) and „Raja Isteri Pengiran Anak Saleha Appendicitis “(RIPASA) score in diagnosing acute appendicitis (AA) in our population, as well as the possibility for connection between certain values and the emergence of “adverse events” in relation to laparoscopic appendectomy (LA). We conducted a multicentric, prospective, cohort, clinical study on 75 patients with AA treated with LA. For all the patients, the values and corresponding group of the three scoring systems (Alvarado, AIR and RIPASA) were determined preoperatively. We registered the emergence of intraoperative complications and difficulties, reason for conversion and the presence of complications postoperatively. All the patients with some form of intraoperative complication or difficulties, patients on whom conversion to open approach was performed or patients with any kind of postoperative complication were placed in the group “with adverse events” and the rest in the group “without adverse events”. The RIPASA score had an insignificantly higher sensitivity (sens.=96% at a cut-off ˃7 and sens.=68% at a cut-off ˃12) than Alvarado score (sens.=90.7% at a cut-off ≥7 and sens.=62.7% at a cut-off ≥9) and both had significantly higher sensitivity than AIR score (sens.=40% at a cut-off ≥9). Further analysis showed that there was no association between the emergence of adverse events and the corresponding group of the scoring system. The RIPASA scoring system had the highest sensitivity in our population, The investigated scoring systems Alvarado, AIR and RIPASA could not be used for predicting possible unwanted course in patients with AA treated with LA

Influence of the Type and Amount of Liver Resection on the Survival of the Patients with Colorectal Metastases

INTRODUCTION: Colorectal liver metastases have a poor prognosis, and only 2% have an average 5-year survival if left untreated. Despite radical resection, the average five-year survival is between 25% and 44%.AIM: To explore the experience of the Clinic in the treatment of colorectal liver metastases, comparing it with data from the literature and based on the comparison to determine the influence of the type and extensity of resection survival after radical surgical treatment of patients.METHODS: This is a retrospective study. The study comprised the period between 01.01.2006 to 31.12.2015. It included a total of 239 cases, of whom: 179 patients underwent radical interventions, 5 palliative and 55 patients underwent explorative interventions due to liver metastases.RESULTS: Radical resection of liver metastases has the impact of the patient survival, and the survival is the smallest in the patients with left hemihepatectomy and the longest in the patients with bisegmentectomy. But no specific technique and the number of resected segments influenced the survival of patients with colorectal liver metastases.CONCLUSION: In patients with colorectal liver metastases only resection has potentially curative character. The type and amount of liver resection has no influence of the survival

The Influence of Resection Size and Pringle Maneuver on Operating Time and Intraoperative Bleeding in Patients with Colorectal Metastases in the Liver

BACKGROUND: The extent of the resection, whether clamped or non-clamping resection is factor that influences the operating time and intraoperative bleeding, the development of modern techniques for vascular control and resection, and determine of lesser blood loss, morbidity, and mortality. AIM: The aim of this study was to determine the experience of General and Hepatobiliary Surgery Clinic at Aleksandrovska Hospital Sofia, Republic of Bulgaria in the treatment of patients with colorectal metastases in the liver and to compare literature reports on the influence of the extent of resection and Pringle maneuver (IPM) on operating time and perioperative bleeding. MATERIALS AND METHODS: This retrospective study covers the time period from January 01, 2006, until December 31, 2015. A total of 239 patients were included, from which: 179 patients were treated with radical surgery, 5 with palliative intervention, and 55 were subjected on operability exploration. RESULTS: The use of the IPM for vascular control insignificantly influenced the prolonged operative time, while intraoperative blood loss was significantly lower in patients with Pringle <15 min. There was no association between IPM and resection type, while intraoperative blood loss and operating time were significantly greater in patients with major resection. CONCLUSION: Resection size is directly proportional to operating time and perioperative blood loss, but it does not significantly influence perioperative morbidity. The IPM does not influence operating time, while blood loss is significantly lower in the group of patients with Pringle <15 min

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment

Development of a large scale, smart, multi-purpose virtual environment (sciences building of TUC) using game engine

Περίληψη: Μη διαθέσιμ

Treatment in patients with speech problems

Aphasia is acquired disorder of communication, that interferes with an individual ability to process language , but also does not have to affect intelligence. There are two types of aphasia: 1.Fluent types of aphasia 2.Not fluent types of aphasia Fluent types of aphasia can be groped into three subgroups:1.Wernicke aphasia (which is characterized by fluent but meaningless speech ).2.Conductive aphasia (is highlighted difficulty in connecting words and phonetic phonetic phrases).3. Anomine aphasia (is characterized with problems in naming objects) Not fluent types of aphasia can be grouped into for subgroups:1.Broca aphasia (is characterized with agramatic speech with attempts at speech production with little success).2.Transcortical motor aphasia (which is characterized by intact repetition but we have limited ability to speak difficulty in naming with good auditory understanding).3.Isolation aphasia (have severe speech fluency disorders, difficult auditory understanding and difficulty in naming).4.Global aphasia(all voice features are hardly affected with severe deficits in understanding and speech production. There is disorder in reading and writing,also. Treatment:restorativ(includes activities which directly improves skills speech and writing),compensatory (improves communication in order to preserve language skills with use of augmentative systems),supportive (includes a special program for each patient separately. Motor speech disorder.These include dysarthria and apraxia.There are several reasons for dysarthria:bulbar palsy, Myasthenia gravis (peripheral motor neuron), pseudobulbar palsy (central motor neuron),cerebellar disorders,M.Parkinsoni,Chorea,Atetosis,Dystonia (extrapiramidal system),Amyotrophic lateral sclerosis, Multiple sclerosis. Treatmant:restorativ,compensatory and supporative