Leiomyosarcoma of the renal vein

Background Leiomyosarcoma is a rare malignant mesenchymal tumour. Some cases of leiomyosarcoma of the renal vein (LRV) have been reported in the literature, but no analysis of data and search for prognostic factors have been done so far. The aim of this review was to describe the LRV, to analyse overall survival (OS), local recurrence free survival (LRFS) and distant metastases free survival (DMFS) in LRV world case series and to identify significant predictors of OS, LRFS and DMFS. Methods Cases from the literature based on PubMed search and a case from our institution were included. Results Sixty-seven patients with a mean age of 56.6 years were identified76.1% were women. Mean tumour size was 8.9 cmin 68.7% located on the left side. Tumour thrombus extended into the inferior vena cava lumen in 13.4%. All patients but one underwent surgery (98.5%). After a median follow up of 24 months, the OS was 79.5%. LRFS was 83.5% after a median follow up of 21.5 months and DMFS was 76.1% after a median follow up of 22 months. Factors predictive of OS in univariate analysis were surgical margins, while factors predictive of LRFS were inferior vena cava luminal extension and grade. No factors predictive of DMFS were identified. In multivariate analysis none of the factors were predictive of OS, LRFS and DMFS. Conclusions Based on the literature review and presented case some conclusions can be made. LRV is usually located in the hilum of the kidney. It should be considered in differential diagnosis of renal and retroperitoneal masses, particularly in women over the age 40, on the left side and in the absence of haematuria. Core needle biopsy should be performed. Patients should be managed by sarcoma multidisciplinary team. LRV should be surgically removed, with negative margins

Rentgenska in ultrazvočna anatomija dojke

Izhodišča. Mlečna žleza je parna žleza, ki ima modificirane značilnosti žleze znojnice in se razvije v podkožnem tkivu zgornje sprednje strani prsnega koša.Skupaj s kožo jo imenujemo dojka. Zaključki. V mamografskem izvidu ni pomembno, da natančno opredelimo, kakšne strukturne spremembe so v dojki prisotne, saj te predstavljajo histološko opredelitev. Pomembno je, da v izvidu opišemo, kako gosta je struktura dojke in s tem klinika opozorimo, s kakšno verjetnostjo smo izključili patološke spremembe v smislu malignega obolenja. Pri UZ preiskavi je pomemben standarden položaj preiskovanke, kar omogoča ponovljivost preiskave. Pregledovati moramo vse dele dojke, paziti moramo, da ne izpustimo določenega predela. Pomembno je, da v izvidu označimo lego lezije: kvadrant, ura in oddaljenost od mamile

Presejanje za odkrivanje raka dojk

Izhodišča. Rak dojk (RD) je zaradi visoke incidence v razvitem svetu in v Sloveniji velik zdravstveni in ekonomski problem. Redno mamografsko pregledovanje asimptomatskih žensk (presejanje oz. screening), starih 50-69 let dolgoročno zmanjša umrljivost za RD, ker odkrije raka v zgodnejši fazi. V Sloveniji presejanje ni organizirano tako kot v nekaterih evropskih državah, ampak je oportunistično, ko ženske preventivno prihajajo v centre za bolezni dojk (CBD) na pregled po priporočilu zdravnika ali po lastni želji. Za kakovost delovanja centri nimajo enotnih državnih smernic in nad njihovim delovanjem ni nadzora. Zaključki. Uspešnost presejanja je odvisna od izbora skupine primerne starosti, udeležbe, intervala med posameznimi krogi presejanja, števila projekcij, dvojnega odčitovanja, kontrole kakovosti ter rednega beleženja in analize doseženih rezultatov. Glavne pomanjkljivosti presejanja so napačno pozitivni in napačno negativni izvidi, izpostavljenost ionizirajočem sevanju ter prediagnosticiranost

Sarkomi: doktrina načela zdravljenja in klinične poti

No abstract.Ni abstrakta

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder caused by mutations in at least two different loci. Prior to performing mutation screening, if DNA samples of sufficient number of family members are available, it is worthwhile to assign the gene involved in disease progression by the genetic linkage analysis. METHODS: We collected samples from 36 Slovene ADPKD families and performed linkage analysis in 16 of them. Linkage was assessed by the use of microsatellite polymorphic markers, four in the case of PKD1 (KG8, AC2.5, CW3 and CW2) and five for PKD2 (D4S1534, D4S2929, D4S1542, D4S1563 and D4S423). Partial PKD1 mutation screening was undertaken by analysing exons 23 and 31–46 and PKD2 . RESULTS: Lod scores indicated linkage to PKD1 in six families and to PKD2 in two families. One family was linked to none and in seven families linkage to both genes was possible. Partial PKD1 mutation screening was performed in 33 patients (including 20 patients from the families where linkage analysis could not be performed). We analysed PKD2 in 2 patients where lod scores indicated linkage to PKD2 and in 7 families where linkage to both genes was possible. We detected six mutations and eight polymorphisms in PKD1 and one mutation and three polymorphisms in PKD2. CONCLUSION: In our study group of ADPKD patients we detected seven mutations: three frameshift, one missense, two nonsense and one putative splicing mutation. Three have been described previously and 4 are novel. Three newly described framesfift mutations in PKD1 seem to be associated with more severe clinical course of ADPKD. Previously described nonsense mutation in PKD2 seems to be associated with cysts in liver and milder clinical course

Smernice za diagnostiko, zdravljenje in sledenje bolnikov s sarkomi mehkih tkiv in kosti

no abstractni abstrakt

THE ADULT\u27S ROLE WHEN PRESCHOOL CHILD IS COPING WITH LOSS

Vsakega enkrat v življenju doleti izgubanekateri jo doživijo že v zgodnjem otroštvu, drugi kasneje. Večina ljudi o izgubi zelo težko govori, zato se tudi v predšolskem obdobju vzgojitelji izogibajo te teme oziroma ji ne namenjajo prav veliko pozornosti. Diplomsko delo je sestavljeno iz empiričnega in teoretičnega dela. V teoretičnem delu je predstavljena izguba in njen pomen. Natančneje je opredeljen pomen izgube pri predšolskem otroku, kakšne vrste izgub poznamo, soočanje otroka z izgubo, vloga odraslega pri soočanju otroka z izgubo in ustrezni ter neustrezni pristopi ob otrokovem soočanju z izgubo. V okviru empiričnega dela je prikazana raziskava o tem, kakšno vlogo imajo odrasli pri otrokovem soočanju v predšolskem obdobju. V raziskavi so bili vključeni starši, vzgojitelji in pomočniki predšolskih otrok iz vrtca Mavrica Vojnik, vrtca Jožice Flander in vrtca Slovenske Konjice. Zbrane podatke, ki smo jih pridobili z anketiranjem, smo nato obdelali s programom za statistično obdelavo podatkov imenovanim SPSS. Zanimalo nas je predvsem, kako odrasli ukrepajo, ko otrok doživi izguboali so dovolj informirani in če prisotnost vzgojitelja, pomočnika vzgojitelja ter starša vpliva na otrokovo reakcijo ob izgubi. Prišli smo do ugotovitve, da najpogosteje odrasli otroka ob izgubi tolažijo, kar smo tudi predvidevali v eni izmed hipotez in da prisotnost odraslega ne vpliva na otrokovo reakcijo, saj je vsak otrok individuum in ob izgubi reagira po svoje.Each person is confronted with loss at least once in a lifetime. Some have to confront it in early childhood and others later on. Most people find it hard to talk about losing someone, and preschool teachers often avoid this topic, or they do not pay a lot of attention to it. The degree paper consists of empirical and theoretical part. The theoretical part defines loss and its meaning. More specifically defined are: the meaning of loss concerning a preschool child, different types of loss, child’s coping with loss, adult’s role when a child copes with loss, and suitable and unsuitable approaches when dealing with that child. The empirical part includes a research about what role does an adult have when he or she is dealing with preschool child’s coping with loss. Parents, teachers and assistants of preschool children from kindergarten Mavrica Vojnik, Jožica Flander kindergarten and kindergarten Slovenske Konjice participated in the research. We obtained data with a questionnaire and analysed it with a programme for statistical data analysis called SPSS. We were mostly interested in how adults take action when loss occurs to a child, whether they are well informed, and whether teacher\u27s, teacher\u27s assistant\u27s or parent\u27s presence has an effect on child\u27s reaction to loss. We came to a conclusion that most often adults comfort children coping with loss, which we anticipated with one of our hypotheses, and that adult\u27s presence does not affect the child\u27s reaction to loss, because each child is an individual that reacts to loss in his or her own way