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1.
Razporeditev genotipov človeških papilomavirusov v različnih oblikah kožnih bradavic
Vesna Breznik, 2020, doktorska disertacija

Opis: Poznavanje razporeditve vzročnih genotipov HPV v najpogostejših kliničnih tipih kožnih bradavic (KB) je izjemno pomembno za razvoj preventivnih cepiv proti kožnim genotipom HPV. V tej raziskavi so bili na osnovi ocenjenih virusnih bremen opredeljeni vzročni genotipi HPV v 203 sveže zamrznjenih tkivnih vzorcih histopatološko potrjenih KB - 185 navadnih (NB) in 18 plantarnih bradavicah (PB), ki so bile odvzete skupno 138 imunsko-kompetentnim bolnikom. Vsi tkivni vzorci so bili s tipsko specifično kvantitativno verižno reakcijo s polimerazo v realnem času (PCR) testirani na najpogostejše Alphapapillomaviruse (Alpha-PV) ki so potencialni povzročitelji KB (HPV-2/-27/-57) in Mu-PV (HPV-1/-63/-204) ter s konvencionalnim širokospektralnim PCR-jem za opredeljevanje prisotnosti 23 nizkorizičnih HPV. Deoksiribonukleinska kislina HPV je bila identificirana v 176/185 (95 %) NB in v vseh PB. Na podlagi ocenjenih virusnih bremen večine opredeljenih genotipov HPV in določene mejne vrednosti pri eni virusni kopiji/celico so bili v tej raziskavi kot potencialni povzročitelji kožnih sprememb (vzročni genotipi HPV) opredeljeni HPV-2/-27/-57 (v približno treh četrtinah NB in v dveh tretjinah PB) ter HPV-1 (v 4 % NB in v eni tretjini PB). Čeprav so bile sočasne okužbe z več genotipi HPV identificirane v približno eni tretjini NB in PB, so bile potencialne vzročne so-okužbe opredeljene v samo 2 % NB, medtem ko jih v vzorcih PB nismo zaznali. Naše ugotovitve nakazujejo na nekoliko različno razporeditev potencialnih vzročnih genotipov HPV-2/-27-/57 in HPV-1 v NB in PB, s predominanco genotipa HPV1 za plantarno lokacijo, kar potrjuje potrebo po vključitvi virusom podobnih delcev genotipov HPV-2/-27-/57/-1 v bodoče cepivo proti kožnim genotipom HPV.
Ključne besede: človeški papilomavirusi, HPV, genotip, rod, kožne bradavice, navadne bradavice, plantarne bradavice, virusno breme, citopatogeni učinek, histopatologija, PCR, genotipizacija, inkluzije
Objavljeno: 05.02.2021; Ogledov: 144; Prenosov: 24
.pdf Celotno besedilo (2,31 MB)

2.
KLINIČNA IN GENETSKA RAZISKAVA BOLNIKOV Z EDEMOM GOLENI IN SINDAKTILIJO PRSTOV NOG
Tanja Planinšek Ručigaj, 2018, doktorsko delo/naloga

Opis: Limfedem, periferni zastoj beljakovinsko bogate intersticijske tekočine v tkivu, nastane zaradi motenj v transportu limfne tekočine. Kaže se kot otekanje udov ali drugih delov telesa. Motnje v transportu limfne tekočine so lahko posledica presežka intersticijske limfne tekočine ali nepravilnega delovanje limfnega sistema. Slednje je v razvitem svetu v večji meri posledica zdravljenja rakavih obolenj (sekundarni limfedem), v manjšem deležu pa se pri bolnikih razvije primarni limfedem, ki je prisoten že ob rojstvu ali se pojavi kasneje v življenju. Primarni limfedemi lahko nastanejo zaradi dednih genetskih mutacij (okrog 10 % primarnih limfedemov), medtem ko je približno 90 % motenj v razvoju limfnega sistema (limfnega žilja ali bezgavk) posledica sporadičnih mutacij. Poleg tega podatki iz literature nakazujejo na možno genetsko ozadje tudi pri bolnikih z edemom goleni in kožno sindaktilijo baze II. in III. nožnega prsta. Nezdravljen ali prepozno zdravljen limfedem privede do napredujočega slabšanja otekline, številnih zapletov in slabše kvalitete življenja bolnika. Z raziskavo smo želeli opredeliti genetsko ozadje slovenskih bolnikov z dednim primarnim limfedemom. Genetsko analizo smo želeli opraviti tudi pri skupini bolnikov s kožno sindaktilijo baze II. in III. prsta na nogi in otekanjem goleni. V raziskavo smo vključili pet slovenskih družin z znanim dednim primarnim limfedemom ter skupino 40 bolnikov z nepojasnjenim edemom goleni in kožno sindaktilijo baze II. in III. nožnega prsta. Po natančni klinični opredelitvi smo za genetsko analizo uporabili metodo sekvenciranja naslednje generacije in sekvenciranja po Sangerju. S sekvenciranjem smo opredelili prisotnost mutacij v 26 genih, ki jih povezujemo z nastankom primarnnega limfedema, in v 19 genih, ki jih povezujemo s sindaktilijo. V prvi slovenski raziskavi bolnikov z dednim primarnim limfedemom smo pri treh družinah potrdili genetsko ozadje bolezni. V Družini 1 smo našli novo, do sedaj neopisano mutacijo gena FOXC2, kjer smo dokazali heterozigotno vstavitev adenozina za citozinom na nukleotidnem mestu 867 (c.867_868insA). Ker odkrita mutacija ni bila predhodno opisana v literaturi, smo dodatno testirali 182 zdravih posameznikov (kontrole), pri katerih omenjene mutacije nismo dokazali. V Družini 2, v kateri ima vseh sedem otrok dedni primarni limfedem, kar nakazuje na dominantno avtosomno dedovanje, nismo našli nobene mutacije v katerem koli izmed 26 preiskovanih genov, povezanih z nastankom dednega primarnega limfedema. V Družinah 3 in 4 smo pri družinskih članih z dednim primarnim limfedemom obeh spodnjih udov odkrili mutacijo Pro1137Leu (c.3410C>T) v eksonu 25 gena FLT4, ki je bila predhodno že opisana v literaturi. Pri dveh družinskih članih Družine 5 smo dokazali mutacijo Leu394Met (c.1180C>A) v eksonu 12 gena TSC2. Naša bolnika z različico TSC2 se od ostalih bolnikov, opisanih v literaturi, razlikujeta po tem, da nimata nobenih drugih kliničnih znakov tuberozne skleroze, ki je sicer povezana z mutacijami v TSC. V skupini bolnikov z edemom goleni in kožno sindaktilijo baze II.-III. prsta nog nismo potrdili povezave med genetskimi variantami in limfedemom ali sindaktilijo. V doktorski disertaciji smo prvič genetsko opredelili slovenske bolnike z dednim primarnim limfedemom. Odkrili smo novo, v literaturi do sedaj še neopisano mutacijo v genu FOXC2, ter potrdili mutacije v genih FLT4 in TSC2. Pri družinah z dednim primarnim limfedemom, pri katerih nismo našli nobene mutacije v najpomembnejših genih, bodo potrebne nadaljnje raziskave za potrditev genetskega ozadja nastanka limfedemov. Opredelitev mutacij pri teh bolnikih je pomembna zaradi genetskega svetovanja mladim bolnikom pri načrtovanju družine, za svetovanje glede načina življenja, načrtovanja posamezniku prilagojene terapije, zaradi preprečevanja slabšanja edema ter pojava neželenih zapletov, do katerih lahko privede prepozno ali nepravilno zdravljenje in zagotavljanja boljše kvalitete življenja.
Ključne besede: dedni primarni limfedem, otekanje nog, sindaktilija prstov nog, genetska analiza, mutacija FOXC2, mutacija FLT4, mutacija TSC2
Objavljeno: 23.11.2018; Ogledov: 871; Prenosov: 64
.pdf Celotno besedilo (6,56 MB)

3.
A novel mutation in the FOXC2 gene
Tanja Planinšek Ručigaj, Matija Rijavec, Jovan Miljković, Julij Gyula Šelb, Peter Korošec, 2017, izvirni znanstveni članek

Opis: Background: Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset. Patients and methods: Subjects from three generations of a family with lymphoedema of lower limbs without distichiasis were searched for mutations in the FOXC2 gene. Results: All affected family members with lymphoedema of lower limbs without distichiasis, and still asymptomatic six years old girl from the same family, carried the same previously unreported insertion of adenosine (c.867insA) in FOXC2. Conclusions: Identification of a novel mutation in the FOXC2 gene in affected family members of three generations with lymphoedema of lower limbs without distichiasis, highlights the high phenotypic variability caused by FOXC2 mutations.
Ključne besede: primary lymphedema, FOXC2 mutation, distichiasis, lower limbs lymphedema
Objavljeno: 30.10.2017; Ogledov: 603; Prenosov: 81
.pdf Celotno besedilo (538,46 KB)
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4.
Necrolytic migratory erythema associated with hyperglucagonemia and neuroendocrine hepatic tumors
Pij B. Marko, Jovan Miljković, Tatjana Grmek-Zemljič, 2005, pregledni znanstveni članek

Opis: We present a 61-year-old man with a 2-year history of persistent disseminated, psoriasiform annular pruritic lesions, acrodermatitis, weight loss, anemia and diabetes. Histopathology of the affected skin showed nonspecific subacute psoriasiform dermatitis. The computed tomographic scan of the abdomen revealed multiple hepatic tumors. Histopathological examination of ultrasound-guided needle biopsy from a hepatic lesion demonstrated a neuroendocrine tumor. Somatostatin-receptor scintigraphy with radio-labelled octreotide confirmed the likelihood of the neuroendocrine nature of the hepatic tumors and excluded the presence of other such lesions throughout the rest of the body, including the pancreas. The serum glucagon level was markedly increased. The diagnosis of necrolytic migratory erythema associated with hyperglucagonemia and neuroendocrine hepatic tumors was made and therapy with the long-acting somatostatin analogue octreotide was started. The skin changes resolved after the initiation of therapy, but no improvement of other symptoms was observed. Having reached the final stage of the disease, which was further complicated by congestive heart failure, the patient died one year later. As no autopsy was performed, we were unable to establish whether the hepatic tumors represented a metastatic process of previously undetected pancreatic glucagonoma or if they were extra-pancreatic glucagon-secreting tumors. The correct diagnosis of necrolytic migratory erythema is important, since it might be the clue for early detection of glucagonoma or of extra-pancreatic glucagon-secreting tumors.
Objavljeno: 21.12.2015; Ogledov: 613; Prenosov: 19
URL Povezava na celotno besedilo

5.
Ulcus vulvae acutum
Katarina Trčko, Mirjam Belič, Jovan Miljković, 2007, strokovni članek

Opis: A 29-year old female presented with a history of sudden onset of genital ulcers with fever and malaise. The clinical picture and course of the disease corresponded to the diagnosis of acute vulvar ulcer. No relevant etiologic factors could be ascertained. Treatment with doxycycline and systemic corticosteroids led to the resolution of the ulcerations after three weeks. Although the disease is rare, it is important to include it in the differential diagnosis of genital ulcers.
Objavljeno: 21.12.2015; Ogledov: 712; Prenosov: 23
URL Povezava na celotno besedilo

6.
Erythropoietic protoporphyria patients in Slovenia
Pij B. Marko, Jovan Miljković, Maksimiljan Gorenjak, Petra Povalej Bržan, Aleksej Kansky, 2007, izvirni znanstveni članek

Opis: Background: There are only scarce epidemiological data on the prevalence of erythropoietic protoporphyria (EPP) in a given population. The aim of this study was to assess the prevalence of EPP within the Slovenian population. Materials and methods: The patients were selected by routine examination of photosensitive patients and by studying hospital records. A quantitative method was used to assess protoporphyrin, with values larger than 530 nm/l considered elevated. Results: 32 EPP patients were detected, which allows us to estimate the prevalence of EPP in Slovenia at 1.75 per 100,000 inhabitants.
Objavljeno: 21.12.2015; Ogledov: 582; Prenosov: 23
URL Povezava na celotno besedilo

7.
Cutaneous larva migrans in two Slovenian travelers returning from Brazil
Jovan Miljković, Vesna Breznik, 2008, kratki znanstveni prispevek

Opis: Cutaneous larva migrans is a frequent phenomenon endemic in tropical and subtropical countries. In Europe only sporiadic cases are reported. We present two cases of cutaneous larva migrans in two Slovenian tourists returning from a vacation in Brazil.
Objavljeno: 21.12.2015; Ogledov: 566; Prenosov: 31
URL Povezava na celotno besedilo

8.
Sporotrichoid presentation of Mycobacterium marinum infection of the upper extremity: A case report
Mirjam Belič, Jovan Miljković, Pij B. Marko, 2006, izvirni znanstveni članek

Opis: Background: Mycobacterium marinum is a human opportunistic pathogen that is known to inhabit swimming pools, home aquariums, and natural bodies of salt and fresh water. Epidemic cases involving swimming pools are easily recognized, but sporadic cases are frequently misdiagnosed. Objective: A 42-year-old male presented with a 2-month history of the appearance of livid, verrucous, painless nodules on his upper extremity. He had cleaned an acquarium wiyh tropical fish for the past 2 years. Methods: A histopathological examination suggested a granulomatous inflammation. After incubation on Löwenstein-Jensen medium, Mycobacterium marinum was identified using biochemical methods and the PCR technique. Results: Systemic therapy with rifampicin, ethambutol, and clarithromycin over a period of 6 months led to complete resolution of the skin lesions with some residual scars. Conclusion: Knowledge of this condition is very important to avoid unnecessay diagnostic procedures and improper treatment.
Objavljeno: 21.12.2015; Ogledov: 655; Prenosov: 19
URL Povezava na celotno besedilo

9.
Idiopathic eruptive macular pigmentation
Katarina Trčko, Pij B. Marko, Jovan Miljković, 2005, pregledni znanstveni članek

Opis: We presented the case of a 10-year-old girl with a six months history of disseminated asymptomatic, brown pigmented macules on the trunk and proximal parts of the extremities. The clinical picture, histological findings, and the course of disease were similar to those of idiopathic eruptive macular pigmentation. The cutaneous lesions gradually disappeared over the next two years without any treatment, and no relapse occurred. The knowledge of this disease is important in order to avoid unnecessary treatment as spontaneous resolution of the lesions may be expected within months or a few years. The spontaneous regression without any treatment is an additional diagnostic criterion.
Objavljeno: 21.12.2015; Ogledov: 518; Prenosov: 66
URL Povezava na celotno besedilo

10.
Zosteriform lichen planus-like eruption
Jovan Miljković, Mirjam Belič, Aleksandar Godić, Polona Klemenc, Jožica Marin, 2006, izvirni znanstveni članek

Opis: Lichen planus (LP) is a relatively common papulosquamos skin disease of unknown etiology, it is believed to be a T-cell mediated disorder. In addition to the cutaneous eruptions it may also affect mucous membranes, nailsor cause scarring alopecia. Lichen planus appears in various clinical variants which are categorized according to the morphology and configuration of lesions. We present a 34-year-old man who developed a papular eruption localized unilaterally on the right side of the body in a linear-zosteriform pattern within the L5-S1 nerve segments. The skin lesions clinically and histologically mimicked LP. Topical treatment with betamethason ointment for one month led to remarkable improvement, but a zosteriform hiperpigmentation persisted. According to the clinical findings in our patient and a review of the literature, we believe that lichenoid-zosteriform eruption is a variant of lichen planus or a herpes zoster infection.
Objavljeno: 21.12.2015; Ogledov: 967; Prenosov: 21
URL Povezava na celotno besedilo

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