A pilot study of the association of rs6127099 polymorphism with primary hyperparathyroidism

Primary hyperparathyroidism (PHPT) is the third most common endocrine disorder characterized by autonomous parathyroid hormone (PTH) secretion by one or more parathyroid glands and increased serum calcium concentration. A recent genome wide association study showed that the rs6127099 polymorphism, which is located upstream the CYP24A1 (Cytochrome P450, family 24, subfamily A, polypeptide 1) gene, is associated strongly with elevated serum PTH levels. CYP24A1 gene encodes an enzyme of cytochrome P450, which is responsible for inactivating vitamin D metabolites. As PTH hypersecretion is a common clinical sign of PHPT, the aim of the present study was to investigate the role of the polymorphism rs6127099 as a genetic predisposing factor for PHPT manifestation. Thirty-nine unrelated patients with sporadic PHPT and an equal number of healthy volunteers were enrolled in the study.Polymerase chain reaction and restriction fragment length polymorphism assays were used for rs6127099 genotyping in both groups. No statistically significant difference was observed comparing CYP24A1 rs6127099 A>T genotypes (p = 0.836) and A vs T allele (p = 0.383) distribution between PHPT patients and controls. In conclusion, rs6127099 polymorphism seems not to be associated with PHPT predisposition. Further independent studies, as the present one, are necessary to evaluate the strong association of rs6127099 polymorphism with PTH levels and its prognostic role in PHPT predisposition

The expression of tumor suppressor CYLD in specific neoplasias

The tumor suppressor CYLD is a deubiquitinating enzyme that acts as a negativeregulator of several signaling pathways including NF-kappa-B and MAPK activationpathways, by affecting the function of important mediators. CYLD regulates severalcellular processes such as immune responses, inflammation, cell survival,proliferation and differentiation. The tumor suppressor function of CYLD seems to becell-type specific and it is important to delineate its involvement in the homeostasis ofspecific tissues in order to understand and exploit its role in oncogenesis . In thisreview, we summarize existing data on the expression and alterations of CYLD incertain types of lung and colorectal neoplasias

Management of an extrasphincteric fistula in an HIV-positive patient by using fibrin glue: a case report with tips and tricks

<p>Abstract</p> <p>Background</p> <p>Individuals with impaired immunity are at higher risk of perianal diseases. Concerning complex anal fistulas impaired healing and complication rates are also higher. Definitive treatment of a fistula aims controlling the purulent discharge and prevents its recurrence. It depends mainly on the trajectory of the fistula and the underlying disease.</p> <p>We present a case of a HIV-positive patient with a complex extrasphincteric anal fistula who was treated successfully with fibrin glue application. We further, discuss tips and tricks when applying fibrin glue as plugging material in complex anal fistulas.</p> <p>Case presentation</p> <p>A sixty-one-year-old HIV-positive male referred to us for warts and extrasphincteric fistula. Because of the patients' immunological status, we opted against surgery and recommended fibrin glue plugging. The patient was discharged the same day. A follow-up examination was performed 5 days after the initial fibrin glue application showing that the fistula canal was obstructed. Three months and a year post-intervention the fistula tract remains closed.</p> <p>Conclusion</p> <p>The best treatment for a disease gives at least the same result with the other treatments with minimised risk for the life of the patient and minimal application effort. Conservative closure of fistula with fibrin plugging is simple, safe and with less morbidity than surgery. Our patient was successfully treated without endangering his life despite his precarious medical state. Not everybody believes in the effectiveness of fibrin glue application, however we consider this solution in cases of complex fistulas at least as primary procedure in special populations such as the immunosupressed.</p

Διασφάλιση Ποιότητας στη Λειτουργική Μαγνητική Απεικόνιση - fMRI

Η παρούσα διπλωματική εργασία πραγματοποιήθηκε με σκοπό την διασφάλιση ποιότητας και τη δημιουργία τιμών αναφοράς στη λειτουργική μαγνητική απεικόνιση, στον καινούριο μαγνητικό τομογράφο της εταιρίας Phillips, στατικού μαγνητικού πεδίου 3Τ, του Πανεπιστημιακού Γενικού Νοσοκομείου Ιωαννίνων. Η διασφάλιση της ποιότητας πραγματοποιήθηκε εξετάζοντας τη σταθερότητα του απεικονιστικού συστήματος, σύμφωνα με τα πρωτόκολλα της AAPM και του FBIRN, μακροπρόθεσμα και βραχυπρόθεσμα, καθώς επίσης και την συμπεριφορά του με χρήση κάποιων παραμέτρων και εξαρτημάτων, όπως τα συνήθη φώτα, τον δυναμικό φωτισμό μαζί με τον βιντεοπροβολέα του συστήματος και τη χρήση του υποστηρικτικού συστήματος λειτουργικής απεικόνισης SensaVue, που δίνει το οπτικό ερέθισμα στον ασθενή. Αν και το πρωτόκολλο της AAPM δεν επαρκεί για την εκτίμηση της σταθερότητας του συστήματος, εξάγει κάποιους βασικούς δείκτες, που ποσοτικοποιούν την παρουσία παραμορφώσεων ή ghosting, που είναι σημαντικά στις εξετάσεις λειτουργικής. Η ανάλυση πραγματοποιήθηκε πάνω στο ομοίωμα του συστήματος και με χρήση δύο διαφορετικών πηνίων εγκεφάλου. Οι δείκτες λογαριάστηκαν με τη βοήθεια προγράμματος (script) που αναπτύχθηκε σε περιβάλλον Matlab, το οποίο εξήγαγε και τις χαρακτηριστικές εικόνες που περιγράφει το πρωτόκολλο του FBIRN. Οι δείκτες που εξήχθησαν ήταν οι SNR, SFNR, Percent fluctuation και Drift, με τους τρεις πρώτους να έχουν άμεση συσχέτιση με την σταθερότητα συναρτήσει του χρόνου, αφού παράγονται με βάση τα 200 δυναμικά της κεντρικής τομής του ομοιώματος που μελετήθηκαν στην παρούσα ανάλυση. Η μελέτη έδειξε ότι το απεικονιστικό σύστημα χαρακτηρίζεται από καλή μακροπρόθεσμη και βραχυπρόθεσμη σταθερότητα, καθώς και ότι οι παράγοντες-εξαρτήματα δεν επηρεάζουν την λειτουργία του.This study was carried out with the aim of performing quality assurance and creating reference values in functional Magnetic Resonance Imaging, using a new Phillips 3T MRI scanner, recently installed at the University Hospital of Ioannina. Quality assurance was carried out by examining the long and short term stability of the imaging system in accordance to the protocols of AAPM and FBIRN, as well as assessing the influence of some peripheral factors, such as the room’s lights, the ambient lights along with system projector and functional MRI support system SensaVue, which is used for delivering visual stimulus to the patient. Although the AAPM protocol is not specialized to assess system stability, it extracts some key indices, such as distortions and ghosting, which are important for functional imaging exams. The analysis was performed using the scanner’s phantom, and two different brain coils. The indices were calculated using a script developed in Matlab, which also exported the images described in the FBIRN protocol. The indices calculated were SNR, SFNR, Percent Fluctuation and Drift with the first three directly associated with system’s stability over time, since they are produced based using the 200 dynamic scans of the center slice of the phantom. The study showed that the imaging system is characterized by good long and short term variability, and the peripheral factors do not affect its operation or stability

Gigantic hepatic amebic abscess presenting as acute abdomen: a case report

<p>Abstract</p> <p>Introduction</p> <p>Amebiasis is a parasitic disease caused by <it>Entamoeba histolytica</it>. It most commonly results in asymptomatic colonization of the gastrointestinal tract, but some patients develop intestinal invasive or extra-intestinal diseases. Liver abscess is the most common extra-intestinal manifestation. The large number of clinical presentations of amebic liver abscess makes the diagnosis very challenging in non-endemic countries. Late diagnosis of the amebic abscess may lead to perforation and amebic peritonitis, resulting in high mortality rates.</p> <p>Case presentation</p> <p>This report describes a 37-year-old white man, suffering from hepatitis B, with a gigantic amebic liver abscess presenting as an acute abdomen due to its rupture. Rapid deterioration of the patient's condition and acute abdomen led to an emergency operation. A large volume of free fluid together with debris was found at the moment of entry into the peritoneal cavity because of a rupture of the hepatic abscess at the position of the segment VIII. Surgical drainage of the hepatic abscess was performed; two wide drains were placed in the remaining hepatic cavities and one on the right hemithorax. The patient was hospitalized in the ICU for 14 days and for another 14 days in our department. The diagnosis of amebic abscess was made by the pathologists who identified <it>E. histolytica </it>in the debris.</p> <p>Conclusion</p> <p>Acute abdomen due to a ruptured amebic liver abscess is extremely rare in western countries where the parasite is not endemic. Prompt diagnosis and treatment are fundamental to preserving the patient's life since the mortality rates remain extremely high when untreated, even nowadays.</p

Intra-abdominal pressure alterations after large pancreatic pseudocyst transcutaneous drainage

<p>Abstract</p> <p>Background</p> <p>Acute pancreatitis leads to abdominal hypertension and compartment syndrome. Weeks after the episodes pancreatic fluids sometimes organize to pseudocysts, fluid collections by or in the gland.</p> <p>Aims of the present study were to evaluate the intra-abdominal pressure (IAP) induced by large pancreatic pseudocysts and to examine the effect of their transcutaneous drainage on IAP.</p> <p>Methods</p> <p>Twenty seven patients with a pancreatic pseudocyst were included. Nine patients with pseudocysts greater than 1l (group A) had CT drainage and eighteen (volume less than 1l) were the control group. The measurements of group A were taken 6 hours before and every morning after the drainage, while for group B, two measurements were performed, one at the day of the initial CT and one 7 days after. Abdominal compliance (Cabd) was calculated. Data were analyzed using student's <it>t</it>-test.</p> <p>Results</p> <p>Baseline IAP for group A was 9.3 mmHg (S.D. 1.7 mmHg), while the first post-drainage day (PDD) IAP was 5.1 mmHg (S.D. 0.7 mmHg). The second PDD IAP was 5.6 mmHg (S.D. 0.8 mmHg), the third 6.4 mmH (S.D. 1.2 mmHg)g, the fourth 6.9 mmHg (S.D. 1.6 mmHg), the fifth 7.9 mmHg (S.D. 1.5 mmHg), the sixth 8.2 mmHg (S.D. 1.4 mmHg), and the seventh 8.2 mmHg (S.D. 1.5 mmHg). Group B had baseline IAP 8.0 mmHg (S.D. 1.2 mmHg) and final 8.2 mmHg (S.D. 1.4 mmHg). Cabd after drainage was 185.6 ml/mmHg (SD 47.5 ml/mmHg).</p> <p>IAP values were reduced between the baseline and all the post-drainage measurements in group A. IAPs seem to stabilize after the 5^thpost-drainage day. Baseline IAP was higher in group A than in group B, while the two values, at day 7, were equivalent.</p> <p>Conclusion</p> <p>The drainage of large pancreatic pseudocyst reduces IAP. Moreover, the IAP seems to rise shortly after the drainage again, but in a way that it remains inferior to the initial value. More chronic changes to the IAP are related to abdominal cavity's properties and have to be further studied.</p

Umbilical endosalpingiosis: a case report

<p>Abstract</p> <p>Introduction</p> <p>Endosalpingiosis describes the ectopic growth of Fallopian tube epithelium. Pathology confirms the presence of a tube-like epithelium containing three types of cells: ciliated, columnar cells; non-ciliated, columnar secretory mucous cells; and intercalary cells.</p> <p>We report the case of a woman with umbilical endosalpingiosis and examine the nature and characteristics of cutaneous endosalpingiosis by reviewing and combining the other four cases existing in the international literature.</p> <p>Case presentation</p> <p>A 50-year-old Caucasian, Greek woman presented with a pale brown nodule in her umbilicus. The nodule was asymptomatic, with no cyclical discomfort or variation in size. Her personal medical, surgical and gynecologic history was uneventful. An excision within healthy margins was performed under local anesthesia. A cystic formation measuring 2.7×1.7×1 cm was removed. Histological examination confirmed umbilical endosalpingiosis.</p> <p>Conclusions</p> <p>Umbilical endosalpingiosis is a very rare manifestation of the non-neoplasmatic disorders of the Müllerian system. It appears with cyclic symptoms of pain and swelling of the umbilicus, but not always. The disease is diagnosed using pathologic findings and surgical excision is the definitive treatment.</p

Enterobius vermicularis: A rare Cause of Appendicitis

ABSTRACT Objective: Although appendicitis is one of the most common causes of emergency surgery, parasites are rarely found associated with inflammation of the appendix. The aim of this study is to establish the prevalence of Enterobius vermicularis in surgically removed appendices, as well as to determine its possible role in the pathogenesis of appendicitis. Methods: A retrospective analysis of all the appendices removed during the last 20 years at a tertiary university hospital. Appendices removed during the course of another intra-abdominal procedure were excluded from the study. Results: All 1085 surgical specimens removed from patients with clinical appendicitis were evaluated. Enterobius vermicularis was found in seven appendices (0.65%) with clinical symptoms of appendicitis. The parasite was most frequently identified in appendices without pathological changes (6/117). There was no case of chronic appendicitis presenting E. vermicularis infestation, while the parasite was rarely related to histological changes of acute appendicitis (1/901). Conclusion: The results suggest that the presence of E. vermicularis in the appendix might cause appendiceal pain (colic), but can rarely be associated with pathologic findings of acute appendicitis. (Turkiye Parazitol Derg 2012; 36: 37-40