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Urinary Bladder01:23

Urinary Bladder

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The urinary bladder is a hollow, muscular sac that temporarily stores urine before it is expelled from the body. It can hold approximately 600 mL of urine prior to micturition. The bladder is retroperitoneal and located behind the pubic symphysis in the pelvic floor.
In males, the bladder is situated in front of the rectum, while in females, it is positioned anterior to the vagina and uterus. The bladder floor contains an inverted triangular area called the trigone, defined by the two ureteric...
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Anatomy of the Genitourinary System II: Bladder and Urethra01:19

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The lower urinary system consists of the urinary bladder and urethra, which are essential in storing and expelling urine from the body. Together with the internal and external sphincters, these structures work together to regulate urination effectively.Anatomy of the BladderThe urinary bladder is a muscular, stretchable organ behind the pubic bone and in front of the rectum. In females, the bladder is positioned anterior to the vagina and inferior to the uterus, while in males, it is located...
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Disorders of the Urinary System01:20

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The urinary system is responsible for eliminating waste and excess fluids from the body. However, disorders of the urinary system can arise due to various reasons like infections, stress, age, congenital abnormalities, and lifestyle.
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Neurulation01:30

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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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The Micturition Reflex01:26

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Urination, or micturition involves the coordination of the bladder's detrusor muscle and two sphincters to ensure controlled bladder emptying.
The process begins with bladder filling, where the bladder wall stretches as urine accumulates. This stretching activates the urine storage reflex, mediated by the sacral spinal segments and the pontine storage center. Efferent sympathetic impulses stimulate the detrusor muscle to relax and the internal urethral sphincter to contract, facilitating...
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Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations01:26

Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

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Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
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Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease.

Celine Grenier1, Filipa M Lopes1, Anna M Cueto-González2,3

  • 1Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.

Kidney International Reports
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Summary

Urofacial (UFS) syndrome linked to LRIG2 gene variants causes bladder dysfunction due to neurogenic defects. This study reveals LRIG2 variants lead to autonomic neuropathy affecting bladder function.

Keywords:
LRIG2Ochoabladderneurogenicsyndromeurofacial

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Area of Science:

  • Genetics
  • Urology
  • Neuroscience

Background:

  • Urofacial (UFS) syndrome is an autosomal recessive disorder characterized by a dyssynergic bladder and abnormal facial grimace.
  • Biallelic variants in HPSE2 cause UFS in half of affected individuals, while LRIG2 variants are found in other rare families.

Purpose of the Study:

  • To investigate the role of LRIG2 in UFS and associated bladder dysfunction.
  • To explore the underlying peripheral neurogenic defects in LRIG2-associated UFS.

Main Methods:

  • Described a new family with LRIG2-associated UFS.
  • Studied Lrig2 homozygous mutant mice using ex vivo physiological analyses.

Main Results:

  • Identified a homozygous pathogenic LRIG2 stop variant in the index case with UFS.
  • Lrig2 mutant mice exhibited enlarged bladders and neurogenic smooth muscle relaxation defects in the bladder outflow tract and detrusor.
  • Observed sex-specific differences in physiological outflow tract defects in mutant mice.

Conclusions:

  • LRIG2 variants, particularly stop or frameshift types, cause the full UFS phenotype, while missense variants result in bladder-limited disease.
  • Supports the hypothesis that UFS is a genetic autonomic neuropathy of the bladder, impacting outflow tract and bladder body function.