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

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
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,...
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
Cytomegalovirus Disease01:27

Cytomegalovirus Disease

Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

You might also read

Related Articles

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

Sort by
Same author

Early-Life β-Lactam Exposure and the Developing Microbiome: Clinical Relevance and Controversies.

Microorganisms·2026
Same author

Triglyceride-to-HDL Cholesterol Ratio Is Associated with Ischemic Stroke Risk in Patients-With Paroxysmal Atrial Fibrillation.

Metabolites·2026
Same author

Liver Lipodystrophy in Barraquer-Simons Syndrome: How Much Should We Worry About?

Life (Basel, Switzerland)·2026
Same author

Special Issue: "Novel Diagnosis and Treatment of Gastrointestinal Disease".

Life (Basel, Switzerland)·2025
Same author

Correlation of the FIB-4 Liver Biomarker Score with the Severity of Heart Failure.

Medicina (Kaunas, Lithuania)·2025
Same author

Anti TNF-Alpha Treatment Improves Microvascular Endothelial Dysfunction in Rheumatoid Arthritis Patients.

International journal of molecular sciences·2024

Related Experiment Video

Updated: Jun 5, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

[Kostmann disease in children].

Magdalena Salariu1, Ingrid Miron, I Tansanu

  • 1Facultatea de Medicina, Universitatea de Medicină şi Farmacie Gr.T. Popa Iaşi.

Revista Medico-Chirurgicala a Societatii De Medici Si Naturalisti Din Iasi
|January 20, 2011
PubMed
Summary

Kostmann's disease is a severe congenital neutropenia causing frequent bacterial infections. Early diagnosis and treatment with G-CSF or bone marrow transplant are crucial for survival.

Related Experiment Videos

Last Updated: Jun 5, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Area of Science:

  • Hematology
  • Genetics
  • Immunology

Background:

  • Kostmann's disease (KD) is a rare, autosomal recessive disorder characterized by severe congenital neutropenia.
  • It leads to a significantly reduced absolute neutrophil count (ANC) below 500/mm3.
  • Associated findings include monocytosis and eosinophilia.

Observation:

  • Bone marrow examination reveals a maturation arrest of neutrophil precursors at the promyelocyte or myelocyte stage.
  • Patients exhibit extreme susceptibility to recurrent, life-threatening bacterial infections.
  • Without intervention like G-CSF or bone marrow transplantation, the mortality rate exceeds 70% in the first year.

Findings:

  • This case series highlights the diagnostic challenges of KD.
  • It underscores the critical importance of timely and accurate diagnosis.
  • The study emphasizes the necessity of appropriate medical interventions.

Implications:

  • Early identification and treatment of KD can dramatically improve patient outcomes.
  • Understanding KD pathogenesis is vital for developing targeted therapies.
  • This research reinforces the need for increased awareness of this rare condition among clinicians.