Enumeration of polyhedral graphs

This thesis is concerned with the design of a polyhedron enumeration algorithm. The approach taken focuses on specic classes of polyhedra and their graph theoretic properties. This is then compared more broadly to other graph enumeration algorithms that are concerned with the same or a superset which includes these properties. An original and novel algorithm is contributed to this area. The approach taken divides the problem into prescribed vertex and face degree sequences for the graphs. Using a range of existence, ordered enumeration and isomorphism techniques, it finds all unique 4-regular, 3-connected planar graphs. The algorithm is a vertex addition algorithm which means that each result output at a given stage has a new vertex added. Other results from different stages are never required for further computation and comparison, hence the process is embarrassingly parallel. Therefore, the enumeration can be distributed optimally across a cluster of computers. This work has led to a successfully implemented algorithm which takes a different approach to its treatment of the class of 4-regular, 3-connected planar graphs. As such this has led to observations and theory about other classes of graphs and graph embeddings which relate to this research

Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood

Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of nephrotic syndrome in childhood and there is growing evidence that genetics play a role in the susceptibility for the disease. Familial clustering has been observed and has led to several studies on familial SSNS trying to identify a monogenic cause of the disease. Until now, however, none of these have provided convincing evidence for Mendelian inheritance. This and the phenotypic variability within SSNS suggest a complex inheritance pattern, where multiple variants and interactions between those and the environment play roles in disease development. Genome-wide association studies (GWASs) have been used to investigate this complex disease. We herein highlight new insights in the genetics of the disease provided by GWAS and identify how these insights fit into our understanding of the pathogenesis of SSNS

Optimizing response to desmopressin in patients with monosymptomatic nocturnal enuresis

Most patients with monosymptomatic nocturnal enuresis can be effectively treated with an enuresis alarm or antidiuretic therapy (desmopressin), depending on the pathophysiology of the condition in the individual patient. Desmopressin is first-line therapy for enuresis caused by nocturnal polyuria, an excessive urine output during the night. However, in a recent study, around one-third of patients thought to be resistant to desmopressin were subsequently treated effectively with desmopressin monotherapy in a specialist centre. The aim of this article is to review best practice in selecting patients for desmopressin treatment, as well as outline eight recommendations for maximizing the chances of treatment success in patients receiving desmopressin. The roles of formulation, dose, timing of administration, food and fluid intake, inter-individual variation in response, body weight, adherence, withdrawal strategies and combination therapies are discussed in light of the most recent research on desmopressin and enuresis. Possible reasons for suboptimal treatment response are explored and strategies to improve outcomes in patients for whom desmopressin is an appropriate therapy are presented. Through optimization of the treatment plan in primary and specialist care centres, the hope is that fewer patients with this distressing and often embarrassing condition will experience unnecessary delays in receiving appropriate care and achieving improvements

Υφολογική μελέτη της γλώσσας του καυχησιάρη στρατιώτη στη Νέα και Ρωμαϊκή Κωμωδία

Έχει υποστηριχθεί ότι ο Λάμαχος των αριστοφανικών Ἀχαρνέων άσκησε ισχυρή επίδραση στη διαμόρφωση του χαρακτήρα του miles gloriosus στην μετέπειτα κωμική δραματουργία. Και πράγματι, οι ομοιότητες μεταξύ του Λάμαχου και των ομολόγων του στη Νέα και Ρωμαϊκή Κωμωδία είναι αναγνωρίσιμες και εντυπωσιακές. Εντούτοις, η προσέγγιση που είχε υιοθετήσει μέχρι τώρα η έρευνα ήταν περισσότερο θεματική παρά γλωσσική. Πρόθεση της παρούσας εργασίας, λοιπόν, είναι να προσφέρει μια εναλλακτική πραγμάτευση του θέματος διερευνώντας τον τρόπο έκφρασης του αλαζόνα στρατιωτικού- και όσων κατά περίπτωση τον υποκαθιστούν στο πλαίσιο της δράσης- σε κωμωδίες του Μενάνδρου (Μισούμενος, Περικειρομένη), του Πλαύτου (Miles Gloriosus, Bacchides, Truculentus, Pseudolus, Curculio και Amphitruo) και του Τερεντίου (Eunuchus) υπό το πρίσμα συγκεκριμένων χαρακτηριστικών: λεκτική επιθετικότητα και απειλές ενάντια στους αντιπάλους του στρατιώτη, χρήση πολεμικής ορολογίας, συγκρίσεις του στρατιώτη με θεούς και ημίθεους, γλωσσικές πτυχές αφηγήσεων για φανταστικά κατορθώματα σε μακρινούς τόπους, εξεζητημένος λόγος και παρωδία της “υψηλής” ποίησης, ελάσσονα γλωσσικά στοιχεία (ερωτικό λεξιλόγιο και γλωσσικές πτυχές του θέματος του φαγητού), λεκτικές αποτυπώσεις που πιστοποιούν τη δειλία του στρατιώτη και προετοιμάζουν το έδαφος για τον αποκλεισμό του από το αίσιο τέλος του έργου. Μέσω της συστηματικής αυτής εξέτασης επιχειρείται να αναδειχθεί ο βαθμός στον οποίο οι Έλληνες κωμωδιογράφοι μετά τον Αριστοφάνη και οι Ρωμαίοι διασκευαστές τους εκμεταλλεύτηκαν γλωσσικές τεχνικές, οι οποίες αναπτύχθηκαν σε πρωιμότερες φάσεις εξέλιξης του χαρακτήρα, προκειμένου να αποδώσουν εναργέστερα την κομπορρημοσύνη του miles.It has been argued that the Lamachus of Aristophanes' Acharnians exercised a strong influence on the formation of the type of the miles gloriosus in later comic stage. Indeed, the similarities between Lamachus and his counterparts in New and Roman Comedy are recognizable and striking. Nevertheless, scholarship until now adopted a thematic rather than linguistic approach to the topic. The aim of this dissertation is therefore to provide an alternative discussion of the topic by examining the language of the braggart soldier (including the characters that display similar traits in the course of the play) in the comedies of Menander (Misoumenos, Perikeiromene), Plautus (Miles Gloriosus, Bacchides, Truculentus, Pseudolus, Curculio and Amphitruo) and Terence (Eunuchus) through the lens of specific linguistic features: verbal aggressiveness and threats against the vainglorious captain’s adversaries, use of military terminology, comparison of the miles to gods or demigods, linguistic aspects of Munchausenesque tales about exploits in distant lands, high style and parody of serious poetry, minor linguistic elements (amatory vocabulary, linguistic aspects in the recurrent theme of food), vocabulary reflecting the character's pusillanimity and preparing the ground for his exclusion from the hero's triumph at the end of the play. This systematic examination will attempt to reveal the extent to which the post-Aristophanic Greek authors and their Latin adapters exploited the linguistic techniques developed during the earlier phases of the type to highlight the pretentiousness of the comic miles

Acute pancreatitis caused by impaction of hydatid membranes in the papilla of Vater: a case report

Acute pancreatitis is a rare complication of hydatidosis and the successful use of endoscopic sphincterotomy associated with extraction of hydatid membranes has been rarely reported. We describe a young man who developed acute pancreatitis after rupture of an echinococcus cyst, located at the left hepatic lobe, into the biliary tract. The cause of pancreatitis was confirmed by endoscopic retrograde cholangiopancreatography, which revealed the presence of a daughter cyst impacted in the major papilla. After sphincterotomy and removal of hydatid membranes from the biliary tract, the patient presented rapid resolution of pancreatitis and made an uneventful recovery

A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy

INTRODUCTION: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults and is characterized by detectable autoantibodies against glomerular antigens, most commonly phospholipase A2 receptor 1 (PLA2R1) and thrombospondin type-1 domain containing 7A (THSD7A). In Europeans, genetic variation in at least five loci, PLA2R1, HLA-DRB1, HLA-DQA1, IRF4, and NFKB1, affects the risk of disease. Here, we investigated the genetic risk differences between different autoantibody states. METHODS: 1,409 MN individuals were genotyped genome-wide with a dense SNV array. The genetic risk score (GRS) was calculated utilizing the previously identified European MN loci, and results were compared with 4,929 healthy controls and 422 individuals with steroid-sensitive nephrotic syndrome. RESULTS: GRS was calculated in the 759 MN individuals in whom antibody status was known. The GRS for MN was elevated in the anti-PLA2R1 antibody-positive (N = 372) compared with both the unaffected control (N = 4,929) and anti-THSD7A-positive (N = 31) groups (p < 0.0001 for both comparisons), suggesting that this GRS reflects anti-PLA2R1 MN. Among PLA2R1-positive patients, GRS was inversely correlated with age of disease onset (p = 0.009). Further, the GRS in the dual antibody-negative group (N = 355) was intermediate between controls and the PLA2R1-positive group (p < 0.0001). CONCLUSION: We demonstrate that the genetic risk factors for PLA2R1- and THSD7A-antibody-associated MN are different. A higher GRS is associated with younger age of onset of disease. Further, a proportion of antibody-negative MN cases have an elevated GRS similar to PLA2R1-positive disease. This suggests that in some individuals with negative serology the disease is driven by autoimmunity against PLA2R1

Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome

Introduction: Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of kidney disease in children worldwide. Genome-wide association studies (GWAS) have demonstrated the association of SSNS with genetic variation at HLA-DQ/DR and have identified several non-HLA loci that aid in further understanding of disease pathophysiology. We sought to identify additional genetic loci associated with SSNS in children of Sri Lankan and European ancestry. Methods: We conducted a GWAS in a cohort of Sri Lankan individuals comprising 420 pediatric patients with SSNS and 2339 genetic ancestry matched controls obtained from the UK Biobank. We then performed a transethnic meta-analysis with a previously reported European cohort of 422 pediatric patients and 5642 controls. Results: Our GWAS confirmed the previously reported association of SSNS with HLA-DR/DQ (rs9271602, P = 1.12 × 10−27, odds ratio [OR] = 2.75). Transethnic meta-analysis replicated these findings and identified a novel association at AHI1 (rs2746432, P = 2.79 × 10−8, OR = 1.37), which was also replicated in an independent South Asian cohort. AHI1 is implicated in ciliary protein transport and immune dysregulation, with rare variation in this gene contributing to Joubert syndrome type 3. Conclusions: Common variation in AHI1 confers risk of the development of SSNS in both Sri Lankan and European populations. The association with common variation in AHI1 further supports the role of immune dysregulation in the pathogenesis of SSNS and demonstrates that variation across the allele frequency spectrum in a gene can contribute to disparate monogenic and polygenic diseases