Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Nephrons01:10

Nephrons

The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma happens...
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document any history...
Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
Renal Corpuscle01:20

Renal Corpuscle

The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous capillaries...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Impact of COVID-19 Pandemic-Associated Social Changes on Boys with Moderate to Severe Autism.

Advances in neurodevelopmental disorders·2022
Same author

Editorial: Neurodevelopmental disabilities.

Current opinion in neurology·2019
Same author

Visual and verbal learning and memory in cystinosis.

Brain and cognition·2019
Same author

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

American journal of human genetics·2019
Same author

Auditory neglect in children following perinatal stroke.

Behavioural brain research·2018
Same author

Chiari I Malformation in Nephropathic Cystinosis.

The Journal of pediatrics·2015
Same journal

A World Appears: A Journey into Consciousness: Pollan M. 2026. New York: Penguin Press. 280 pages. List price: $23.09.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology·2026
Same journal

Parallel Distributed Processing and Other Computational Models: Strengths, Weaknesses, and Possibilities.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology·2026
Same journal

Serum SIRT3 Levels and Their Relationship With Alzheimer Disease Pathological Markers in Individuals With Mild Cognitive Impairment.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology·2026
Same journal

Not Just for Adults: Transient Global Amnesia is Rare-But Possible-in Children.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology·2026
Same journal

Mysteries of the Social Brain: Understanding Human Behavior Through Science: Miller BL, Sturm V. New York: Routledge. 2024. 146 pages. List price $28.99.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology·2026
Same journal

Emotion Perception in Behavioral Variant Frontotemporal Dementia and Alzheimer Disease: The Parahippocampal Conundrum.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology·2026
See all related articles

Related Experiment Video

Updated: May 12, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

Executive function in nephropathic cystinosis.

Angela O Ballantyne1, Amy M Spilkin, Doris A Trauner

  • 1Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093-0935, USA. aballantyne@ucsd.edu

Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology
|March 30, 2013
PubMed
Summary
This summary is machine-generated.

Children and adolescents with cystinosis show significant executive function (EF) deficits. These findings highlight EF as a critical area for intervention in managing this rare genetic disorder.

More Related Videos

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay
08:13

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay

Published on: February 20, 2015

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

Related Experiment Videos

Last Updated: May 12, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay
08:13

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay

Published on: February 20, 2015

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

Area of Science:

  • Neuroscience
  • Pediatrics
  • Genetics

Background:

  • Cystinosis is a rare genetic metabolic disorder causing cystine accumulation in organs, including the brain.
  • Previous studies indicate visuospatial deficits but normal intelligence and verbal abilities in individuals with cystinosis.
  • Understanding the behavioral phenotype is crucial for effective treatment strategies.

Purpose of the Study:

  • To investigate executive function (EF) in children and adolescents diagnosed with cystinosis.
  • To compare EF performance between individuals with cystinosis and healthy controls.
  • To identify potential areas of cognitive risk associated with cystinosis.

Main Methods:

  • Twenty-eight children with cystinosis and 24 controls (ages 8-17) were assessed.
  • Neuropsychological evaluation using the Delis-Kaplan Executive Function System (D-KEFS).
  • Parental completion of the Behavior Rating Inventory of Executive Function (BRIEF).

Main Results:

  • Participants with cystinosis demonstrated significantly poorer performance on all D-KEFS indices compared to controls.
  • Children with cystinosis scored lower on the BRIEF metacognition index and global executive composite.
  • These results indicate widespread executive function impairments in pediatric cystinosis.

Conclusions:

  • Executive function is a significant area of vulnerability in cystinosis.
  • Findings have implications for academic and daily functioning, disease management, and treatment adherence.
  • Results can inform the development of targeted interventions and enhance understanding of brain-behavior links in cystinosis.