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1.
Cureus ; 15(11): e49175, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38130562

RESUMO

INTRODUCTION: Muscle-invasive bladder cancer (MIBC) is associated with significant morbidity. However, patients' specific health needs have not been well defined. This study analyses the utilisation of hospital resources by MIBC patients in the 12 months before death, informing healthcare modelling and enabling service redesign to improve their quality of life. MATERIALS AND METHODS: All patients who died after being diagnosed with MIBC at a single hospital in the United Kingdom within four years were included. Patients' electronic health records were reviewed to collect data on all interactions with hospital services in their last year of life. RESULTS: A total of 41 patients were included, with survival times ranging from one to 88 months (with a median of nine months). In the last year of life, a patient from this cohort had an average of 5.2 outpatient appointments and 2.3 emergency admissions leading to 17.1 days of inpatient stay and 1.3 operations/procedures. The most common reasons for emergency admission were for the management of haematuria (23%), urinary tract infection (23%), or chest infection (12%). CONCLUSION: Patients with MIBC demonstrate significant utilisation of healthcare resources in their last year of life. An awareness of this should inform honest discussions with patients, earlier provision of palliative care, and proactive management of haematuria and urinary tract infections to improve care in this important stage of life.

2.
Pediatr Surg Int ; 36(7): 763-772, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32458130

RESUMO

INTRODUCTION: Bladder Bowel Dysfunction (BBD) has been described in patients with Down's Syndrome (DS). Our aim was to report the incidence, demographics, presentation, complications and management of the bladder in DS patients with BBD. METHODS: A systematic review was performed using PRISMA guidelines and search terms "{[(trisomy 21) OR down's syndrome]} AND [("non-neurogenic") OR voiding dysfunction]" in the search engines MEDLINE and SCOPUS. We also include a case series from two paediatric urology centres. RESULTS: A total of 38 patients with BBD and DS were included. Mean age was 12 years (newborn to 21 years), the male:female ratio was 2:1. Functional constipation (90%), recurrent urinary tract infections (38%) and enuresis were common at presentation (56%), while over 56% patients required surgical intervention. Medical treatment and behavioral modification were less successful while intermittent catheterisation did not work. CONCLUSION: This study reviews the largest cohort of patients with BBD in DS. It is common with serious consequences requiring operative intervention. Usual interventions are unreliable due to poor compliance. Early identification and management protect the renal tract. Regular screening for urogenital anomalies in DS is currently not performed. We recommend a thorough history of bladder function in DS patients to identify these cases early.


Assuntos
Síndrome de Down/complicações , Doenças da Bexiga Urinária/complicações , Doenças da Bexiga Urinária/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Constipação Intestinal/fisiopatologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Bexiga Urinária/fisiopatologia , Doenças da Bexiga Urinária/terapia , Adulto Jovem
3.
Eur Urol ; 56(3): 486-94, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18514389

RESUMO

BACKGROUND: The Wnt signalling pathway directs aspects of embryogenesis and is thought to contribute to maintenance of certain stem cell populations. Disruption of the pathway has been observed in many different tumour types. In bowel, stomach, and endometrial cancer, this is usually due to mutation of genes encoding Wnt pathway components APC or beta-catenin. Such mutations are rare in hepatocellular carcinomas and medulloblastomas with Wnt pathway dysfunction, and there, mutation in genes for other Wnt molecules, such as Axin, is more frequently found. OBJECTIVE: Although evidence of abnormal activation of the Wnt pathway in prostate cancer has been demonstrated by several groups, APC and beta-catenin mutations are infrequent. We sought mutations in genes encoding Wnt pathway participants in a panel of prostate cancer clinical specimens and cell lines. DESIGN, SETTING, AND PARTICIPANTS: DNA was obtained from 49 advanced prostate cancer specimens using laser microdissection followed by whole genome amplification and 8 prostate cancer cell lines. MEASUREMENTS: The DNA samples were screened for mutations in the genes encoding APC, beta-catenin, and Axin. The subcellular distribution of beta-catenin expression was assessed in the clinical specimens using immunohistochemistry. RESULTS AND LIMITATIONS: Abnormal patterns of beta-catenin expression, suggesting Wnt pathway dysregulation, were observed in 71% of specimens. One APC mutation, two beta-catenin gene mutations, and 7 DNA sequence variations in the Axin gene were detected. Four different Axin polymorphisms were also found in the cell lines. The study does not provide definite evidence that the observed sequence changes alter protein function, promoting neoplasia, but the potential functional relevance of these variants is discussed. CONCLUSIONS: These data contribute to our understanding of the role of Wnt dysregulation in prostatic tumourigenesis and support the current interest in the pathway as a therapeutic target. Of particular interest, we identified three new potentially functionally relevant AXIN1 mutations.


Assuntos
Mutação , Neoplasias da Próstata/genética , Proteínas Repressoras/genética , Idoso , Idoso de 80 Anos ou mais , Proteína Axina , Genes APC , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias da Próstata/patologia , Transdução de Sinais/genética , Proteínas Wnt/genética , beta Catenina/genética
4.
J Med Case Rep ; 2: 363, 2008 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-19055797

RESUMO

INTRODUCTION: Hydrocoele is a condition frequently encountered in adult urological practice. It is usually of benign aetiology and often diagnosed on clinical grounds. Surgical repair, if indicated, is generally straightforward. CASE PRESENTATION: We report a 53-year-old man with liver cirrhosis and clinical features of a hydrocoele, in whom flow was demonstrated using Doppler ultrasonography in the fluid around the testis, which communicated via varices with the left renal vein. CONCLUSION: In this patient with misleading clinical signs, diagnosis was established radiologically. Had surgery proceeded without this investigation, significant intra-operative bleeding would have been likely.

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