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

Serum Studies: Renal Function Tests01:24

Serum Studies: Renal Function Tests

9
Renal function tests are crucial for assessing kidney health, monitoring disease progression, and evaluating the kidneys' efficiency in waste elimination, fluid balance, and electrolyte regulation. These tests offer critical insights into kidney function, even though routine measurements may appear normal until there is a significant decline in the glomerular filtration rate or GFR. Typically, signs of kidney impairment only become evident when the GFR falls to about 50% of its normal level.
9
Urea Cycle01:23

Urea Cycle

44.7K
The urea cycle describes how liver cells convert ammonia to urea. Ammonia is a toxic waste product of protein catabolism. Land animals must convert ammonia into the less toxic urea which can be safely eliminated by the kidneys through urine. Marine animals excrete ammonia directly, and the surrounding water dilutes the ammonia to safe levels.
44.7K
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

99
Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
99
Myocarditis II: Clinical Features and Diagnostic Tests01:27

Myocarditis II: Clinical Features and Diagnostic Tests

12
Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
12
Translation01:31

Translation

142.1K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
142.1K
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

9
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
9

You might also read

Related Articles

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

Sort by
Same author

"Un chapeau" can fit many different heads - A clinical vignette for CASPR2 autoimmune encephalitis.

Epileptic disorders : international epilepsy journal with videotape·2026
Same author

Remimazolam for sedation in flexible bronchoscopy: A systematic review and meta-analysis of randomised controlled trials.

Pulmonology·2026
Same author

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal of inherited metabolic disease·2026
Same author

ICU Admission and Post-Discharge Mortality in COVID-19: Different Risk Factors Across Clinical Phases.

Medical sciences (Basel, Switzerland)·2026
Same author

Ozone alters the allergenicity of Ambrosia artemisiifolia pollen in a dose-dependent manner.

Environment international·2026
Same author

Evaluation of the Tunnelling Technique for Upper Labial Frenectomy Using ER:YAG Laser.

Journal of clinical and experimental dentistry·2026

Related Experiment Video

Updated: Jul 12, 2025

Important Endpoints and Proliferative Markers to Assess Small Intestinal Injury and Adaptation using a Mouse Model of Chemotherapy-Induced Mucositis
07:05

Important Endpoints and Proliferative Markers to Assess Small Intestinal Injury and Adaptation using a Mouse Model of Chemotherapy-Induced Mucositis

Published on: May 12, 2019

5.9K

Citrullinemia and What Else?

Joana Almeida1, Fátima Ferreira1, Nanci Baptista1

  • 1Centro de Referência de Doenças Hereditárias do Metabolismo - Centro Hospitalar e Universitário de Coimbra, MetabERN, Portugal.

Endocrine, Metabolic & Immune Disorders Drug Targets
|October 20, 2023
PubMed
Summary

Citrullinemia type I (CTLN1) in non-identical twins shows varied neurocognitive outcomes despite shared genetics. Perinatal factors and hyperammonemia severity significantly impact development, highlighting critical management needs.

Keywords:
Citrullinemia type I (CTLN1)Genetic backgroundNeurocognitive dysfunctionPerinatal issues

More Related Videos

Evaluation of a Reliable Biomarker in a Cecal Ligation and Puncture-Induced Mouse Model of Sepsis
05:28

Evaluation of a Reliable Biomarker in a Cecal Ligation and Puncture-Induced Mouse Model of Sepsis

Published on: December 9, 2022

3.5K
Assessment of Chimeric Antigen Receptor T Cell-Associated Toxicities Using an Acute Lymphoblastic Leukemia Patient-Derived Xenograft Mouse Model
06:08

Assessment of Chimeric Antigen Receptor T Cell-Associated Toxicities Using an Acute Lymphoblastic Leukemia Patient-Derived Xenograft Mouse Model

Published on: February 10, 2023

1.4K

Related Experiment Videos

Last Updated: Jul 12, 2025

Important Endpoints and Proliferative Markers to Assess Small Intestinal Injury and Adaptation using a Mouse Model of Chemotherapy-Induced Mucositis
07:05

Important Endpoints and Proliferative Markers to Assess Small Intestinal Injury and Adaptation using a Mouse Model of Chemotherapy-Induced Mucositis

Published on: May 12, 2019

5.9K
Evaluation of a Reliable Biomarker in a Cecal Ligation and Puncture-Induced Mouse Model of Sepsis
05:28

Evaluation of a Reliable Biomarker in a Cecal Ligation and Puncture-Induced Mouse Model of Sepsis

Published on: December 9, 2022

3.5K
Assessment of Chimeric Antigen Receptor T Cell-Associated Toxicities Using an Acute Lymphoblastic Leukemia Patient-Derived Xenograft Mouse Model
06:08

Assessment of Chimeric Antigen Receptor T Cell-Associated Toxicities Using an Acute Lymphoblastic Leukemia Patient-Derived Xenograft Mouse Model

Published on: February 10, 2023

1.4K

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Neurodevelopmental Pediatrics

Background:

  • Citrullinemia type I (CTLN1) is a rare, autosomal recessive metabolic disorder.
  • Neonatal presentation can lead to death or neurocognitive dysfunction if untreated.

Purpose of the Study:

  • To investigate the diverse clinical and neurocognitive outcomes in non-identical twins with Citrullinemia type I.
  • To explore the influence of genetic background and perinatal factors on disease progression.

Main Methods:

  • Case report of non-identical twins diagnosed with CTLN1.
  • Neurocognitive assessment using Griffiths Scales, WPPSI-R, and WISC-III.
  • Monitoring of hyperammonemia levels.

Main Results:

  • Both twins share CTLN1-causing ASS1 gene variants but exhibit distinct neurocognitive trajectories.
  • Twin S2 experienced neonatal hyperammonemia and coma, leading to significant deficits in verbal skills and overall IQ.
  • Twin S1, without neonatal complications, maintained average to high average IQ.

Conclusions:

  • Clinical presentation and neurocognitive evolution in CTLN1 can vary significantly even in genetically similar individuals.
  • Perinatal factors (delivery type, neonatal coma) and duration/severity of hyperammonemia are critical determinants of neurodevelopmental outcomes.
  • Individualized management considering genetic and environmental factors is crucial for patients with Citrullinemia type I.