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  1. Article: Basal Cell Carcinoma of the Prostate Misdiagnosed as High-Grade Urothelial Cancer - A Case Report of a Diagnostic Pitfall.

    Taskovska, Milena / Frelih, Maja / Smrkolj, Tomaž / Volavšek, Metka

    Research and reports in urology

    2023  Volume 15, Page(s) 187–192

    Abstract: Purpose: Basal cell carcinoma of the prostate is rare. Usually, it is diagnosed in elderly men with nocturia, urgency, lower urinary tract obstruction and normal PSA.: Case presentation: We report on a case of a 56-years-old patient who presented at ... ...

    Abstract Purpose: Basal cell carcinoma of the prostate is rare. Usually, it is diagnosed in elderly men with nocturia, urgency, lower urinary tract obstruction and normal PSA.
    Case presentation: We report on a case of a 56-years-old patient who presented at the emergency ward with weight loss, nausea and vomiting. The diagnostic evaluation showed acute renal failure due to a bladder tumor. After admission to the urology ward and subsequent contrast-enhanced CT urography and contrast-enhanced chest CT, a non-metastatic bladder tumor that infiltrated the right side of the bladder and seminal vesicles was found. High-grade muscle-invasive urothelial carcinoma was diagnosed from TURBT specimens, followed by radical cystoprostatectomy with pelvic lymphadenectomy and formation of ureterocutaneostomy sec. Bricker. The histopathological examination of the resection specimen surprisingly revealed the presence of prostatic basal cell carcinoma pT4N0M0 and not urothelial cancer. Due to renal failure, the patient required hemodialysis. The recommendation of the multidisciplinary oncological meeting was to follow up with the patient by the surgeon-urologist. On imaging six months after surgery, it was suspicious for recurrence. Patient was considered for adjuvant oncological treatment.
    Conclusion: Although rare, basal cell carcinoma of the prostate should be considered in patients with lower urinary tract symptoms, hematuria and normal PSA. Transurethral resection of bladder tumor is indicated in patients presenting with hematuria and bladder tumor. In evaluation of such cases rare histological types should be included in the differential diagnosis.
    Language English
    Publishing date 2023-06-09
    Publishing country England
    Document type Case Reports
    ZDB-ID 2649530-2
    ISSN 2253-2447
    ISSN 2253-2447
    DOI 10.2147/RRU.S391558
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  2. Article: Simultaneous robotic resection of pheochromocytoma and gastrointestinal stromal tumour in an adult neurofibromatosis type 1 patient: A single-docking procedure using da Vinci XI platform.

    Grosek, Jan / Tomažič, Aleš / Frelih, Maja / Hawlina, Simon

    Journal of minimal access surgery

    2022  Volume 18, Issue 2, Page(s) 311–313

    Abstract: The risk of tumours, including pheochromocytoma and gastrointestinal stromal tumour is higher in patients with neurofibromatosis Type 1 (NF1). The co-occurrence of these two tumours is rare, and most patients are symptomatic. In this case report we ... ...

    Abstract The risk of tumours, including pheochromocytoma and gastrointestinal stromal tumour is higher in patients with neurofibromatosis Type 1 (NF1). The co-occurrence of these two tumours is rare, and most patients are symptomatic. In this case report we describe the case of an asymptomatic 42-year-old female patient with left adrenal mass and concurrent lesion in the jejunum, just distal to the ligament of Treitz. Both tumours were successfully simultaneously removed by totally robotic transperitoneal technique using da Vinci Robotic Surgical System Xi.
    Language English
    Publishing date 2022-01-19
    Publishing country India
    Document type Case Reports
    ZDB-ID 2186884-0
    ISSN 1998-3921 ; 0972-9941
    ISSN (online) 1998-3921
    ISSN 0972-9941
    DOI 10.4103/jmas.jmas_171_21
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  3. Article ; Online: Tubulointerstitial nephritis and uveitis syndrome in an adolescent female: a case report.

    Petek, Tadej / Frelih, Maja / Marčun Varda, Nataša

    Journal of medical case reports

    2021  Volume 15, Issue 1, Page(s) 443

    Abstract: Background: Tubulointerstitial nephritis with uveitis syndrome is a rare disease affecting mainly children and young women. Tubulointerstitial nephritis with uveitis is a diagnosis of exclusion, requiring a high degree of clinical suspicion. Studies ... ...

    Abstract Background: Tubulointerstitial nephritis with uveitis syndrome is a rare disease affecting mainly children and young women. Tubulointerstitial nephritis with uveitis is a diagnosis of exclusion, requiring a high degree of clinical suspicion. Studies report recent infections or certain drugs as precipitating factors of a lymphocytic oculorenal immune response. The prognosis is usually favorable with topical and systemic corticosteroid therapy.
    Case presentation: We report a literature review and the case of a 14-year-old white girl, who presented to the ophthalmology department with features of one-sided uveitis. Upon transfer of patient to nephrological care, diagnostic work-up revealed renal involvement. Renal biopsy showed a mixed-cell and granulomatous tubulointerstitial nephritis with some noncaseating granulomas, leading to a diagnosis of tubulointerstitial nephritis with uveitis syndrome. With topical ocular and systemic corticosteroid therapy, the patients' condition improved over several weeks.
    Conclusions: Our case highlights the importance of early recognition and treatment of this syndrome, where cross-specialty care typically leads to a favorable outcome.
    MeSH term(s) Adolescent ; Female ; Humans ; Nephritis, Interstitial/diagnosis ; Nephritis, Interstitial/drug therapy ; Rare Diseases ; Syndrome ; Uveitis/diagnosis ; Uveitis/drug therapy
    Language English
    Publishing date 2021-09-04
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 2269805-X
    ISSN 1752-1947 ; 1752-1947
    ISSN (online) 1752-1947
    ISSN 1752-1947
    DOI 10.1186/s13256-021-03017-8
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  4. Article ; Online: Tubulointerstitial nephritis and uveitis syndrome in an adolescent female

    Tadej Petek / Maja Frelih / Nataša Marčun Varda

    Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-

    a case report

    2021  Volume 17

    Abstract: Abstract Background Tubulointerstitial nephritis with uveitis syndrome is a rare disease affecting mainly children and young women. Tubulointerstitial nephritis with uveitis is a diagnosis of exclusion, requiring a high degree of clinical suspicion. ... ...

    Abstract Abstract Background Tubulointerstitial nephritis with uveitis syndrome is a rare disease affecting mainly children and young women. Tubulointerstitial nephritis with uveitis is a diagnosis of exclusion, requiring a high degree of clinical suspicion. Studies report recent infections or certain drugs as precipitating factors of a lymphocytic oculorenal immune response. The prognosis is usually favorable with topical and systemic corticosteroid therapy. Case presentation We report a literature review and the case of a 14-year-old white girl, who presented to the ophthalmology department with features of one-sided uveitis. Upon transfer of patient to nephrological care, diagnostic work-up revealed renal involvement. Renal biopsy showed a mixed-cell and granulomatous tubulointerstitial nephritis with some noncaseating granulomas, leading to a diagnosis of tubulointerstitial nephritis with uveitis syndrome. With topical ocular and systemic corticosteroid therapy, the patients’ condition improved over several weeks. Conclusions Our case highlights the importance of early recognition and treatment of this syndrome, where cross-specialty care typically leads to a favorable outcome.
    Keywords Tubulointerstitial nephritis with uveitis ; Acute tubular injury ; Bilateral uveitis ; Renal biopsy ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2021-09-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article: Spot Urine Protein Excretion in the First Year Following Kidney Transplantation Associates With Allograft Rejection Phenotype at 1-Year Surveillance Biopsies: An Observational National-Cohort Study.

    Oblak, Manca / Mlinšek, Gregor / Kojc, Nika / Frelih, Maja / Buturović-Ponikvar, Jadranka / Arnol, Miha

    Frontiers in medicine

    2021  Volume 8, Page(s) 781195

    Abstract: Introduction: ...

    Abstract Introduction:
    Language English
    Publishing date 2021-11-16
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2775999-4
    ISSN 2296-858X
    ISSN 2296-858X
    DOI 10.3389/fmed.2021.781195
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  6. Article ; Online: A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant.

    Golob, Valentina / Nosan, Gregor / Bertok, Sara / Frelih, Maja / Boštjanči, Emanuela / Rus, Rina

    Croatian medical journal

    2021  Volume 62, Issue 2, Page(s) 187–191

    Abstract: Congenital nephrotic syndrome (CNS) is a rare disease defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema presenting in the first three months of life. It is most commonly caused by mutations in the NPHS1 gene associated with ... ...

    Abstract Congenital nephrotic syndrome (CNS) is a rare disease defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema presenting in the first three months of life. It is most commonly caused by mutations in the NPHS1 gene associated with nephrotic syndrome type 1, also known as Finnish-type CNS, which is inherited in an autosomal recessive manner. Symptomatic treatment with intravenous albumins, vitamins, minerals, nutritional, and hormonal supplementation and treatment of complications are mandatory. Children refractory to the symptomatic treatment are recommended to undergo nephrectomy and renal replacement therapy, preferably renal transplantation. We report on a child with Finnish type CNS with a NPHS1 mutation, which is the first case confirmed by genetic study in Slovenia. We showed for the first time that homozygous mutation c.2928-3del in the NPHS1 gene caused exon 22 skipping, leading to a truncated protein and Fin-minor phenotype.
    MeSH term(s) Child ; Humans ; Infant ; Kidney Transplantation ; Membrane Proteins/genetics ; Mutation ; Nephrotic Syndrome/drug therapy ; Nephrotic Syndrome/genetics ; Slovenia
    Chemical Substances Membrane Proteins
    Language English
    Publishing date 2021-05-06
    Publishing country Croatia
    Document type Case Reports
    ZDB-ID 1157623-6
    ISSN 1332-8166 ; 0353-9504
    ISSN (online) 1332-8166
    ISSN 0353-9504
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 187: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  7. Article ; Online: Just Seeing Is Not Enough for Believing: Immunolabelling as Indisputable Proof of SARS-CoV-2 Virions in Infected Tissue.

    Erman, Andreja / Wechtersbach, Karmen / Velkavrh, Daniel / Pleško, Jerica / Frelih, Maja / Kojc, Nika

    Viruses

    2021  Volume 13, Issue 9

    Abstract: Background: There is increasing evidence that identification of SARS-CoV-2 virions by transmission electron microscopy could be misleading due to the similar morphology of virions and ubiquitous cell structures. This study thus aimed to establish ... ...

    Abstract Background: There is increasing evidence that identification of SARS-CoV-2 virions by transmission electron microscopy could be misleading due to the similar morphology of virions and ubiquitous cell structures. This study thus aimed to establish methods for indisputable proof of the presence of SARS-CoV-2 virions in the observed tissue.
    Methods: We developed a variant of the correlative microscopy approach for SARS-CoV-2 protein identification using immunohistochemical labelling of SARS-CoV-2 proteins on light and electron microscopy levels. We also performed immunogold labelling of SARS-CoV-2 virions.
    Results: Immunohistochemistry (IHC) of SARS-CoV-2 nucleocapsid proteins and subsequent correlative microscopy undoubtedly proved the presence of SARS-CoV-2 virions in the analysed human nasopharyngeal tissue. The presence of SARS-CoV-2 virions was also confirmed by immunogold labelling for the first time.
    Conclusions: Immunoelectron microscopy is the most reliable method for distinguishing intracellular viral particles from normal cell structures of similar morphology and size as virions. Furthermore, we developed a variant of correlative microscopy that allows pathologists to check the results of IHC performed first on routinely used paraffin-embedded samples, followed by semithin, and finally by ultrathin sections. Both methodological approaches indisputably proved the presence of SARS-CoV-2 virions in cells.
    MeSH term(s) COVID-19/virology ; Coronavirus Nucleocapsid Proteins/analysis ; Humans ; Immunohistochemistry ; Microscopy, Immunoelectron ; Nasopharynx/virology ; Phosphoproteins/analysis ; SARS-CoV-2/isolation & purification ; SARS-CoV-2/ultrastructure ; Virion/isolation & purification ; Virion/ultrastructure
    Chemical Substances Coronavirus Nucleocapsid Proteins ; Phosphoproteins ; nucleocapsid phosphoprotein, SARS-CoV-2
    Language English
    Publishing date 2021-09-13
    Publishing country Switzerland
    Document type Evaluation Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2516098-9
    ISSN 1999-4915 ; 1999-4915
    ISSN (online) 1999-4915
    ISSN 1999-4915
    DOI 10.3390/v13091816
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  8. Article: Management of Anticoagulant-Related Nephropathy: A Single Center Experience.

    Belčič Mikič, Tanja / Kojc, Nika / Frelih, Maja / Aleš-Rigler, Andreja / Večerić-Haler, Željka

    Journal of clinical medicine

    2021  Volume 10, Issue 4

    Abstract: Background: Anticoagulant-related nephropathy (ARN) is a form of acute kidney injury that mainly occurs in patients with previously unrecognized glomerular disease in addition to excessive anticoagulation. Since a renal biopsy is not performed in most ... ...

    Abstract Background: Anticoagulant-related nephropathy (ARN) is a form of acute kidney injury that mainly occurs in patients with previously unrecognized glomerular disease in addition to excessive anticoagulation. Since a renal biopsy is not performed in most cases, the diagnosis is often presumptive.
    Methods: Here, we present the characteristics of a national Slovenian patient cohort with histologically verified ARN, from the first case in 2014 to December 2020, and a review of the current literature (Pubmed database).
    Results: In Slovenia, ARN has been detected in 13 patients, seven of whom were treated with coumarins, and others with direct oral anticoagulants. In seven patients, ARN appeared after excessive anticoagulation. As many as 11 patients had underlying IgA nephropathy. Similar to the global data presented here, the pathohistological impairment associated with pre-existing glomerulopathy was mild and disproportionate to the degree of functional renal impairment. The majority of our patients with ARN experienced severe deterioration of renal function associated with histological signs of accompanying acute tubular injury, interstitial edema, and occlusive red blood cell casts. These patients were treated with corticosteroids, which (in addition to supportive treatment and discontinuation of the anticoagulant drug) led to a further improvement in renal function.
    Conclusions: Anticoagulant therapy combined with a pre-existing glomerular injury may lead to ARN. In addition to discontinuation of the anticoagulant and supportive care, corticosteroids, which are currently listed in only a few cases in the world literature, may have a positive influence on the course of treatment. However, the benefits of steroid treatment must be weighed against the risk of complications, especially life-threatening infections.
    Language English
    Publishing date 2021-02-16
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm10040796
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  9. Article ; Online: SARS-CoV-2 Virions or Ubiquitous Cell Structures? Actual Dilemma in COVID-19 Era.

    Frelih, Maja / Erman, Andreja / Wechtersbach, Karmen / Pleško, Jerica / Avšič-Županc, Tatjana / Kojc, Nika

    Kidney international reports

    2020  Volume 5, Issue 9, Page(s) 1608–1610

    Keywords covid19
    Language English
    Publishing date 2020-07-15
    Publishing country United States
    Document type Journal Article
    ISSN 2468-0249
    ISSN (online) 2468-0249
    DOI 10.1016/j.ekir.2020.07.003
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  10. Article: Characteristics of renal sarcoidosis and tubulointerstitial nephritis and uveitis syndrome in Slovenia: An analysis of the national renal biopsy registry and patient datasets in the last decade.

    Frelih, Maja / Piko, Nejc / Večerić-Haler, Željka / Kojc, Nika / Borštnar, Špela

    Clinical nephrology

    2021  Volume 96, Issue 1, Page(s) 6–15

    Abstract: Background: Sarcoidosis is characterized by granulomatous inflammation in multiple organs. Renal involvement is rare, and granulomatous tubulointerstitial nephritis (TIN) is the predominant histologic feature. TIN is also a hallmark of ... ...

    Abstract Background: Sarcoidosis is characterized by granulomatous inflammation in multiple organs. Renal involvement is rare, and granulomatous tubulointerstitial nephritis (TIN) is the predominant histologic feature. TIN is also a hallmark of tubulointerstitial nephritis and uveitis (TINU) syndrome. Diagnoses of both sarcoidosis and TINU syndrome are usually made by exclusion and by combining clinical and histological findings, and often remain misdiagnosed. The aim of this retrospective study was to determine the characteristics of renal sarcoidosis and TINU syndrome in Slovenia in the last decade (2010 - 2020).
    Materials and methods: A thorough search of the national database of renal biopsies from January 2010 to December 2020 was performed. Inclusion criteria were TIN and a clinical history of either sarcoidosis or TINU syndrome. To compare the characteristics of our cohort with others, we also reviewed the global literature reported since 2010.
    Results: 13 patients (9 female, 4 male) were included in our study. Indications for kidney biopsy were acute kidney injury (n = 8), acute exacerbation of chronic kidney disease (n = 4), and proteinuria (n = 1). Seven patients had clinical and histological evidence of sarcoidosis, and 6 patients were classified as having TINU syndrome. All patients were treated with corticosteroids. Of the 13 patients, 11 had improved kidney function 6 months after treatment, and proteinuria decreased in 9 patients. One patient was on dialysis at the time of diagnosis and remained so thereafter.
    Conclusion: Renal sarcoidosis and TINU syndrome are rare but important causes of kidney injury, with a favorable long-term prognosis if properly diagnosed and treated in a timely manner.
    MeSH term(s) Biopsy ; Female ; Humans ; Male ; Nephritis, Interstitial/diagnosis ; Nephritis, Interstitial/epidemiology ; Registries ; Retrospective Studies ; Sarcoidosis/diagnosis ; Sarcoidosis/epidemiology ; Slovenia/epidemiology ; Uveitis/diagnosis ; Uveitis/epidemiology ; Uveitis/etiology
    Language English
    Publishing date 2021-10-12
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 185101-9
    ISSN 0301-0430
    ISSN 0301-0430
    DOI 10.5414/CNP96S02
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 873: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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