Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

[Upper extremity abnormalities, thrombopenia and thrombopathy. 3 cases].

D Thévenieau, J F Mattéi, I Juhan

Archives Francaises De Pediatrie

|June 1, 1978

Summary

This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by

Same author

Beyond sense-specific processing: decoding texture in the brain from touch and sonified movement.

iScience·2023

Same author

The impact of movement sonification on haptic perception changes with aging.

Scientific reports·2021

Same author

First Report of Fusarium Head Blight on Winter Wheat in the Grand Duchy of Luxembourg.

Plant disease·2019

Same author

First Report of Wheat Leaf Rust in the Grand Duchy of Luxembourg and the Progress of its Appearance over the 2003-2008 Period.

Plant disease·2019

Same author

First Report of the Nivalenol Chemotype of Fusarium graminearum Causing Head Blight of Wheat in the Grand Duchy of Luxembourg.

Plant disease·2019

Same author

[IHC, FISH, CISH, NGS in non-small cell lung cancer: What changes in the biomarker era?]

Revue de pneumologie clinique·2018

Same journal

A case of congenital myatonia (Oppenheim's disease).

Archives francaises de pediatrie·2010

Same journal

A case of severe haemolytic anemia anemia.

Archives francaises de pediatrie·2010

Same journal

On the acute anemia of the newborn.

Archives francaises de pediatrie·2010

Same journal

Intermittent jaundice; intrahepatic bile duct agenesis.

Archives francaises de pediatrie·2010

Same journal

Osteomyelitis with acute staphylococcus aureus with septicemia and pericarditis cured without surgery by iodo-sulfonamide therapy.

Archives francaises de pediatrie·2010

Same journal

Mickulicz syndrome and hepatomegaly during a diabetes mellitus.

Archives francaises de pediatrie·2010

See all related articles

Congenital radial aplasia with amegakaryocytic thrombocytopenia involves platelet abnormalities. Electron microscopy revealed immature megakaryocytes, and functional studies showed defective nucleotide release and membrane issues.

Area of Science:

Hematology
Genetics
Pediatrics

Background:

Congenital radial aplasia is a rare condition characterized by the absence of the radius bone.
Amegakaryocytic thrombocytopenia refers to a low platelet count due to insufficient megakaryocyte production.
This study examines three cases integrating clinical, genetic, and hematological perspectives.

Observation:

Electron microscopy of megakaryocytes in two patients showed microcytic, immature, and hypogranular cells.
Platelet aggregability studies in one patient indicated abnormal intra-platelet nucleotide release.
This patient also exhibited membrane abnormalities related to the von Willebrand factor binding site.

Findings:

The first case demonstrated impaired platelet function with defective nucleotide release and membrane abnormalities.

Related Experiment Videos

The second case presented an isolated deficiency in platelet factor 3.

These findings highlight diverse hematological defects in congenital amegakaryocytic thrombocytopenia.

Implications:

Understanding these cellular and functional defects is crucial for diagnosing and managing congenital amegakaryocytic thrombocytopenia.
Further research into the genetic underpinnings can inform therapeutic strategies.
These insights contribute to the broader knowledge of platelet disorders and bone development abnormalities.