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

Diagnosing Acidosis and Alkalosis01:24

Diagnosing Acidosis and Alkalosis

496
Diagnosing acid-base imbalances involves systematically analyzing arterial blood samples, focusing on three key measurements: pH, bicarbonate (HCO3−) concentration, and carbon dioxide partial pressure (PCO2). This analysis follows a four-step process that helps identify the imbalance's underlying cause and nature.
First, the pH level is assessed to determine whether the blood pH is normal (7.35–7.45), low (acidosis), or high (alkalosis).
Next, the PCO2  and...
496
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

234
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
234

You might also read

Related Articles

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

Sort by
Same author

Urinary antimicrobial peptides and cytokines as biomarkers for recurrent urinary tract infection in children and adolescents.

Frontiers in immunology·2026
Same author

Natural History of C3 Glomerulopathy and Immune Complex-Associated Membranoproliferative Glomerulonephritis in Children.

Clinical journal of the American Society of Nephrology : CJASN·2026
Same author

Letter to the Editor re: "Utility of the 3-months post-operative ultrasound and percent reduction in antero-posterior diameter of renal pelvis to identify success, early failures and those at risk for late failures after pediatric dismembered pyeloplasty: An analysis of 359 cases".

Journal of pediatric urology·2026
Same author

Robotic major reconstruction in pediatric urology: A scoping review of catheterizable channels and bladder augmentation.

Journal of pediatric urology·2026
Same author

Blood Pressure Control in Adolescents With CKD and Risk of Kidney Failure in Young Adulthood.

Kidney medicine·2026
Same author

Contemporary Treatment Responses of Recurrent Focal Segmental Glomerulosclerosis or Steroid Resistant Nephrotic Syndrome in Children after Kidney Transplantation: Phase 2 of a Multicenter Electronic Health Record Data Analysis.

Research square·2026
Same journal

On the Memoryless Property in Markov Models for NMIBC Cost-Effectiveness Analysis.

The Journal of urology·2026
Same journal

Multi-institutional Assessment of Performance Metrics for MRI-targeted Transperineal Prostate Biopsy.

The Journal of urology·2026
Same journal

Urinary Supersaturation in a Randomized Trial among Individuals with Recurrent Nephrolithiasis comparing Empiric versus Selective Preventive Therapy: The URINE Trial.

The Journal of urology·2026
Same journal

The FDA Should Allow More BCG Strains into the US Market: How Recent Landmark Trials Expose a Regulatory Paradox.

The Journal of urology·2026
Same journal

Let's Shift the Focus from Death to Life after Fournier's Gangrene.

The Journal of urology·2026
Same journal

Endourology and Nephrolithiasis.

The Journal of urology·2026
See all related articles

Related Experiment Video

Updated: Sep 2, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.3K

Diagnostic Code-Based Screening for Identifying Children with Primary Hyperoxaluria.

Gregory Tasian1,2, Kimberley Dickinson3, John Karafilidis4

  • 1Department of Surgery, Division of Urology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

The Journal of Urology
|August 5, 2022
PubMed
Summary
This summary is machine-generated.

Diagnostic codes for primary hyperoxaluria (PH) have low positive predictive value (PPV) for identifying children with this rare disease in large electronic health record databases. Careful validation is crucial for research accuracy.

Keywords:
electronic health recordshyperoxaluria, primaryvalidation study

More Related Videos

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

4.5K
Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
07:45

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis

Published on: February 9, 2021

3.7K

Related Experiment Videos

Last Updated: Sep 2, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.3K
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

4.5K
Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
07:45

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis

Published on: February 9, 2021

3.7K

Area of Science:

  • Pediatric Nephrology
  • Medical Informatics
  • Rare Diseases

Background:

  • Primary hyperoxaluria (PH) is a rare genetic disorder.
  • Accurate identification of PH patients is crucial for timely diagnosis and management.
  • Electronic health records (EHRs) offer potential for large-scale patient identification, but code accuracy can be a challenge.

Purpose of the Study:

  • To evaluate the utility of diagnostic codes for screening patients with primary hyperoxaluria (PH).
  • To determine the positive predictive value (PPV) of these codes in identifying children with PH within the PEDSnet network.
  • To assess factors influencing the PPV of diagnostic codes for PH.

Main Methods:

  • A cross-sectional study was conducted using PEDSnet data from January 2009 to January 2021.
  • Screening criteria using diagnostic codes were developed into three tiers based on hypothesized PH probability.
  • Electronic health records of potential PH cases were reviewed for diagnosis confirmation and code accuracy assessment.

Main Results:

  • Out of 341 screened patients, 33 (9.7%) had confirmed PH.
  • The overall PPV of diagnostic codes was low (20% for Tier 1).
  • PPV varied significantly by PH type (PH3: 100%, PH1: 22.8%) and was influenced by institutional data extraction accuracy.

Conclusions:

  • Diagnostic codes for PH demonstrate poor positive predictive value in large EHR databases.
  • Caution is advised when utilizing diagnostic codes for PH research without source data validation.
  • The accuracy of EHR data extraction impacts the reliability of identifying rare diseases like PH.