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Rare and complex urology /

This book, 'Rare and Complex Urology,' is a comprehensive resource focused on the management and treatment of rare and complex urological conditions. Edited by Wouter F.J. Feitz and Jen Tidman, it is a collaborative work involving contributions from various experts in the field. The book c...

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Bibliographic Details
Corporate Author: ScienceDirect (Online service)
Other Authors: Feitz, Wouter F. J., Tidman, Jen
Format: eBook
Language:English
Published: London : Academic Press, 2024.
Subjects:
Urology.
Genitourinary organs > Diseases.
Urology
Urologie.
Appareil urogénital > Maladies.
Electronic books.
Online Access:Connect to the full text of this electronic book
Table of Contents:
  • Intro
  • Rare and Complex Urology
  • Copyright
  • Contents
  • Contributors
  • Acknowledgements
  • Part I: Introductory chapters
  • Chapter 1: Introduction: Rare urology, ERN eUROGEN and knowledge exchange
  • Chapter 2: The European Association of Urology (EAU) and ERN eUROGEN
  • Part II: Overview chapters
  • Chapter 3: ERN eUROGEN: Impact and innovations for rare and complex urology
  • Introduction
  • Rare or low-prevalence complex diseases in Europe
  • European reference networks
  • ERN eUROGEN: The European reference network for rare urogenital diseases and complex conditions
  • ERN eUROGEN and rare urogenital diseases and complex conditions
  • Target groups
  • Patients
  • Members
  • Workstreams
  • Expertise areas
  • Work packages
  • Coordination
  • Objectives
  • Management and operational activities
  • HCP network coordinator
  • Coordination team
  • Strategic board
  • Operational board
  • Advisory board
  • Leads and coordinators
  • Dissemination
  • Objectives
  • Dissemination plan
  • Meetings and collaboration
  • Websites
  • Newsletters, emails and social media
  • Publications and presentations
  • Promotional materials
  • Guidelines and training and education
  • Evaluation
  • Objectives
  • Continuous monitoring
  • First 5-year evaluation
  • Healthcare and CPMS
  • Objectives
  • The clinical patient management system: A new eHealth technology
  • ERN eUROGEN and CPMS
  • Case referrals
  • The future of CPMS
  • Registries, data management and analysis
  • Objectives
  • Training and education
  • Objective
  • Webinar programme
  • Training courses
  • Patient and clinician information
  • Exchange programme
  • Clinical practice guidelines and clinical decision support tools
  • Objectives
  • Conclusion
  • References
  • Chapter 4: The patient view on the ERN programme: Share, care, cure, and pathways.
  • European Reference Networks: Advancing care and treatments for those born with rare and complex diseases
  • Establishing best practice-Caring and collaboration
  • The role of European Patient Advocacy Groups
  • Centralisation of care in rare diseases and complex conditions [6]
  • Adapting to a different life
  • Rare diseases and complex conditions-A lifelong challenge
  • Puberty
  • Promoting Independence
  • Facing the challenges of rare diseases and complex conditions
  • The example of living with anorectal malformation
  • Clinicians and therapeutic staff
  • Holistic care
  • A collaborative approach
  • Rare diseases and complex conditions-A late diagnosis: The real story of the psychological impact of KS/XXY
  • Promoting excellent communication
  • References
  • Chapter 5: Cross-ERN actions and collaborations by ERN eUROGEN
  • Introduction and background
  • Unique needs of rare diseases
  • Need for centralisation and collaboration globally
  • ERN maturing capacities and experience
  • Policy context
  • European policy
  • Global policy
  • Cross-ERN collaboration
  • Cross-ERN working groups
  • European rare disease research coordination and support action (ERICA)
  • Collaboration with individual ERNs
  • ERN ERNICA
  • ERN ERKNet
  • Endo-ERN
  • ERN GENTURIS
  • ERN ITHACA
  • ERN TransplantChild
  • European collaboration
  • Supporting partners: Organisations and individual experts
  • European Association of Urology (EAU)
  • Anorectal malformations network (ARM-Net) consortium
  • European Paediatric Surgeons Association (EUPSA)
  • European Society for Paediatric Urology (ESPU)
  • International Society for the Study of Bladder Pain Syndrome (ESSIC)
  • Individual experts
  • Rare 2030
  • European Joint Programme on Rare Diseases (EJP RD)
  • Other
  • Global collaboration
  • Global network for rare diseases (GNRD)
  • CureforU.
  • Murdoch Childrens Research Institute in Melbourne, Australia
  • Confederación Americana de Urología (CAU)
  • Ukraine
  • Opportunities
  • Expansion of collaboration in the WHO European region/outside the EU
  • Taking part in the pilot global network for rare diseases (GNRD)
  • References
  • Chapter 6: Development of the ERN eUROGEN registry
  • Introduction
  • Objectives
  • Data elements and data collection
  • Registry setup
  • Centralised registry
  • Participating HCPs
  • Informed consent
  • Prospective and retrospective inclusion
  • Data `ownership
  • Roles
  • Access to the ERN eUROGEN registry
  • Finances
  • Data analyses
  • Quality aspects
  • Information quality
  • Data quality evaluation
  • Quality audit visits
  • Example of the potential use of the registry
  • References
  • Chapter 7: Development of ERN eUROGEN clinical practice guidelines (CPGs) and clinical decision support tools (CDSTs)
  • Introduction and background
  • Clinical practice guidelines and clinical support decision tools: Definitions and disclaimers
  • ERN eUROGEN and guidelines
  • ERN guidelines consortium
  • Background and formation
  • Training on guidelines
  • How the consortium and ERN eUROGEN work together
  • ERN Eurogen Guidelines Expert Panel
  • ERN Eurogen Guidelines work and collaborations
  • Bladder exstrophy/epispadias (EA 1.2)
  • Clinical practice guideline on bladder exstrophy
  • Rare urological stone and kidney diseases (EA 1.3)
  • Collaboration and consensus papers
  • Clinical practice guideline on congenital solitary functioning kidney
  • Nonsyndromic urogenital tract malformations (EA 1.4)
  • Clinical practice guideline on Paediatric neurogenic bladder
  • Clinical decision support tool or consensus paper on vaginal malformation
  • Clinical decision support tool on megaureters
  • Posterior urethral valves (EA 1.5).
  • Clinical decision support tool on posterior urethral valves
  • Urorectal/anorectal malformations (EA 1.7)
  • Collaboration and consensus papers
  • Clinical practice guideline on anorectal malformations
  • Rare diseases and conditions affecting the female urethra (EA 2.2)
  • Clinical practice guideline on vesicovaginal fistula
  • Interstitial cystitis (EA 2.5)
  • Clinical practice guideline on rare bladder inflammatory conditions
  • Penile cancer (EA 3.1)
  • Clinical practice guideline on penile cancer
  • Clinical decision support tool on consensus-driven recommendations for the implementation of centralisation in penile cancer
  • Adrenal tumours (EA 3.3)
  • Clinical practice guideline on adrenal tumours
  • Future objectives
  • References
  • Part III: Clinical chapters
  • Section A: Workstream 1: Rare congenital uro-recto-genital anomalies
  • Chapter 8: Expertise Area 1.1: Complex genital reconstructions in patients with differences of sex development
  • Overview/DSD classification
  • Diagnostics
  • Recommended age at surgery and legislation
  • Surgical concepts of complex genital reconstruction
  • Feminising genitoplasties
  • Vaginoplasty
  • Clitoroplasty
  • Masculinising genitoplasties
  • Straightening of the penis
  • Urethral reconstruction
  • Penoscrotal transposition
  • Complications and long-term follow-up
  • Aspects of gonadal surgery
  • Surgical management of gonadal dysgenesis
  • References
  • Chapter 9: Expertise Area 1.2: Bladder exstrophy/epispadias
  • Epidemiology
  • Types and variants
  • Surgical management: Two current surgical strategies
  • German strategy and experience, the staged approach
  • The Nantes one-stage combined delayed bladder closure with Kelly radical soft-tissue mobilisation (RSTM)
  • Long-term results after bladder exstrophy repair
  • Health-related quality of life (HRQOL)
  • Renal function
  • Incontinence.
  • Sexual function and reproduction in females
  • Sexual function and reproduction in men
  • Malignancy risk
  • Orthopaedics
  • Transition
  • References
  • Chapter 10: Expertise Area 1.3: Rare urological stones and kidney diseases
  • Introduction
  • Epidemiology
  • Composition
  • Tests
  • Metabolic evaluation
  • Imaging
  • Aetiologies
  • Infectious calculi
  • Calculi secondary to lifestyle
  • Calcium calculi and hypercalciuria
  • Hypercalcaemia associated with hypercalciuria
  • Primary hyperparathyroidism
  • CaSR inhibitory mutation (benign hypocalciuric familial hypercalcaemia (OMIM 145980)
  • Hypercalcaemia with low PTH (OMIM 143880)
  • Isolated hypercalciuria
  • Absorptive hypercalciuria
  • Hypercalciuria of renal origin
  • Cystinuria
  • Distal tubular acidosis
  • Different types of distal tubular acidosis
  • Autosomal recessive forms (OMIM 267300)
  • Autosomal dominant forms
  • Hyperoxaluria
  • Primary hyperoxaluria
  • Primary hyperoxaluria type 1 (OMIM 259900)
  • Other primary hyperoxaluria
  • Secondary hyperoxaluria
  • Uric acid calculi
  • Management
  • Medical care
  • Infectious calculi
  • Hypercalciuria
  • Cystinuria
  • Distal tubular acidosis
  • Hyperoxaluria
  • Uric acid calculi
  • Urological management [9]
  • Shock wave lithotripsy (SWL)
  • Ureteroscopy
  • Percutaneous nephrolithotomy (PCNL)
  • Surgery
  • Follow-up
  • Specific conditions
  • Conclusion
  • References
  • Chapter 11: Expertise Area 1.4: Nonsyndromic urogenital tract malformation (neurogenic bladder and spina bifida)
  • Introduction
  • Background
  • Classification
  • Neurological pathologies affecting the LUT
  • Spinal dysraphism
  • Tethered cord
  • Sacral agenesis and anorectal malformations
  • Other neurological lesions (Table 3)
  • Severe voiding dysfunction or nonneurogenic neurogenic bladder
  • Diagnostic evaluation
  • Physical and neurological exam.