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

Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

655
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
655
Chronic Pancreatitis II: Collaborative Care01:29

Chronic Pancreatitis II: Collaborative Care

561
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
561
Nephrotic Syndrome III : Nursing Management01:24

Nephrotic Syndrome III : Nursing Management

547
Nursing management for nephrotic syndrome adapts as the disease progresses, with strategies evolving to address advancing symptoms and complications.Early-Stage Management In the early stages, nursing interventions for nephrotic syndrome resemble those used in managing acute glomerulonephritis, focusing on symptom monitoring, fluid balance, and managing mild to moderate edema.Vital Signs: Regularly monitor blood pressure, pulse, respiratory rate, and temperature to promptly identify...
547
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

408
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...
408
Myocarditis IV: Nursing Management01:22

Myocarditis IV: Nursing Management

398
Myocarditis is an inflammatory condition of the myocardium requiring meticulous nursing management for optimal patient outcomes. Effective management begins with a thorough assessment of the patient's medical history, paying close attention to past infections, autoimmune disorders, travel history, and exposure to toxins or drugs. Recent viral infections and systemic diseases are particularly relevant due to their potential role in triggering myocarditis.Physical Examination and MonitoringThe...
398
Angina V: Nursing Management01:20

Angina V: Nursing Management

555
Angina, a symptom of myocardial ischemia, requires a structured nursing management approach to ensure effective care and prevent complications like myocardial infarction. Comprehensive nursing care involves assessing, diagnosing, planning, implementing interventions, and evaluating outcomes, all tailored to the individual patient's needs.Patient AssessmentNursing assessment begins with a detailed subjective evaluation of symptoms, which typically include chest pain or pressure radiating to the...
555

You might also read

Related Articles

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

Sort by
Same author

Bovine alkaline phosphatase in health and disease: A bibliometric and narrative review.

Veterinary and animal science·2026
Same author

Assessment of Ocular Surface Pathogen Susceptibility to Ultraviolet-C (UVC) Light Treatment With a Novel Prototype Device-An In Vitro Study.

Veterinary ophthalmology·2026
Same author

Liver MR elastography in Gaucher disease: Longitudinal association with disease severity.

Molecular genetics and metabolism·2026
Same author

Delay in Diagnosis of Classical Homocystinuria.

JIMD reports·2026
Same author

Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy.

Journal of inherited metabolic disease·2026
Same author

Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.

Communications medicine·2026

Related Experiment Video

Updated: Apr 28, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

703

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Tarekegn Hiwot1,2, Forbes D Porter3, Tatiana Bremova-Ertl4

  • 1Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK.

Journal of Inherited Metabolic Disease
|April 26, 2026
PubMed
Summary

Updated clinical management guidelines for Niemann-Pick disease type C (NPC) have been released. These comprehensive guidelines ensure standardized, high-quality care for NPC patients globally, incorporating recent diagnostic and therapeutic advancements.

Keywords:
NPCNiemann‐Pick disease type Cdiagnosisguidelinesmanagementtreatment

More Related Videos

Enrichment of Mammalian Tissues and Xenopus Oocytes with Cholesterol
10:12

Enrichment of Mammalian Tissues and Xenopus Oocytes with Cholesterol

Published on: March 25, 2020

5.6K
Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
06:15

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus

Published on: March 6, 2019

53.3K

Related Experiment Videos

Last Updated: Apr 28, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

703
Enrichment of Mammalian Tissues and Xenopus Oocytes with Cholesterol
10:12

Enrichment of Mammalian Tissues and Xenopus Oocytes with Cholesterol

Published on: March 25, 2020

5.6K
Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
06:15

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus

Published on: March 6, 2019

53.3K

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Clinical medicine

Background:

  • Niemann-Pick disease type C (NPC) is an ultra-rare, autosomal recessive neurovisceral lysosomal disorder.
  • Previous clinical management guidelines for NPC were published in 2018.
  • Recent advancements in diagnostics, care, and novel therapeutics necessitate guideline revision.

Purpose of the Study:

  • To revise and update the 2018 clinical management guidelines for Niemann-Pick disease type C (NPC).
  • To ensure safe, consistent, and high-quality care for individuals with NPC.
  • To provide an internationally applicable resource for NPC diagnosis, treatment, and holistic management.

Main Methods:

  • Convening a multidisciplinary Guidelines Development Group (GDG) with international NPC expertise, including patients and families.
  • Conducting a comprehensive literature review.
  • Systematically reviewing, revising, and updating 2018 guideline statements based on evidence and expert agreement.

Main Results:

  • The 2025 consensus clinical management guidelines for NPC have been developed.
  • Guidelines incorporate the latest evidence, diagnostic tools, and therapeutic approvals.
  • Recommendations reflect updated levels of evidence, strength of recommendations, and expert consensus.

Conclusions:

  • The 2025 guidelines offer a timely and up-to-date resource for NPC care.
  • These guidelines support standardized and inclusive care pathways for NPC patients worldwide.
  • The resource is critical for specialist centers, healthcare providers, and patients/families involved in NPC management.