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Related Concept Videos

Disorders of the Urinary System01:20

Disorders of the Urinary System

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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.
Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...
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Disorders of the Male Reproductive System01:20

Disorders of the Male Reproductive System

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Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
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Physiology of Urine Formation01:24

Physiology of Urine Formation

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Urine formation is an essential function of the human body. It plays a critical role in maintaining homeostasis by regulating the volume and composition of body fluids. The kidneys, the primary organs involved in this process, filter blood to remove waste products and excess substances, ultimately producing urine.
Glomerular Filtration
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Sex-linked Disorders01:43

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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The Micturition Reflex01:26

The Micturition Reflex

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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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Updated: Jun 14, 2025

Ultrasonography of the Adult Male Urinary Tract for Urinary Functional Testing
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Genetic Contributions to Lower Urinary Tract Dysfunction.

Lilian R Hiltebeitel1, Steve Seltzsam1, Chunyan Wang1

  • 1Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, United States.

American Journal of Medical Genetics. Part A
|September 4, 2024
PubMed
Summary
This summary is machine-generated.

Genetic testing may reveal causes for severe lower urinary tract dysfunction (LUTD) in children. This study identified genetic mutations in two children with non-neurogenic neurogenic bladder (NNNB), suggesting a potential genetic basis for the condition.

Keywords:
exome sequencinglower urinary tract dysfunctionnon‐neurogenic neurogenic bladderurofacial syndrome

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Area of Science:

  • Pediatric Urology
  • Medical Genetics

Background:

  • Lower urinary tract dysfunction (LUTD) presents with diverse voiding symptoms in children.
  • Severe LUTD can lead to serious complications like kidney damage and chronic kidney disease.
  • Non-neurogenic neurogenic bladder (NNNB) is a diagnosis of exclusion for severe LUTD without neurological or obstructive causes.

Observation:

  • Exome sequencing was performed on five probands with NNNB or severe LUTD.
  • Two individuals were found to have monogenic causes for their severe LUTD.
  • One patient had an HPSE2 exon 9 deletion, and another had an ARL6 p.Gly167del mutation.

Findings:

  • Identification of homozygous mutations in HPSE2 and ARL6 genes in children with severe LUTD.
  • Analysis of the HPSE2 deletion suggests microhomology-mediated end joining as a potential mechanism.
  • These genetic findings point to a potential hereditary component in some cases of NNNB.

Implications:

  • Genetic testing should be considered for children diagnosed with severe LUTD.
  • Understanding the genetic etiology of NNNB can inform diagnosis and management strategies.
  • This research highlights the importance of genetic factors in pediatric voiding disorders.