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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Functional Classification of Joints

Functional Classification of Joints
The functional classification of joints is determined by the amount of mobility between the adjacent bones. Joints are functionally classified as a synarthrosis or immobile joint, an amphiarthrosis or slightly moveable joint, or as a diarthrosis, a freely moveable joint. Fibrous and cartilaginous joints can be functionally classified as either synarthroses  or amphiarthroses, whereas all synovial joints are classified as diarthroses.
Synarthrosis
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Joints form during embryonic development in conjunction with the formation and growth of the associated bones. The embryonic tissue that gives rise to all bones, cartilage, and connective tissues of the body is called mesenchyme.
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Common data elements for arthrogryposis multiplex congenita: An international framework.

Shahrzad Nematollahi1,2, Klaus Dieterich3, Isabel Filges4

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This summary is machine-generated.

Standardized common data elements (CDEs) for arthrogryposis multiplex congenita (AMC) were identified to aid international research. These CDEs will improve data collection and collaboration across multisite studies.

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Area of Science:

  • Medical Research
  • Genetics
  • Clinical Informatics

Background:

  • Arthrogryposis multiplex congenita (AMC) research is hindered by a lack of standardized data collection.
  • Multisite and international studies require common data elements (CDEs) for effective data aggregation and analysis.

Purpose of the Study:

  • To establish consensus-based, standardized common data elements (CDEs) for arthrogryposis multiplex congenita (AMC).
  • To facilitate multisite studies and international clinical research in AMC.

Main Methods:

  • A mixed-methods approach involving focus group discussions and three rounds of modified Delphi surveys.
  • Achieved consensus among 45 clinical experts and individuals with lived experience from 11 countries.
  • Utilized two-tiered rating scales to reach consensus on CDEs.

Main Results:

  • Developed 321 data elements and 19 standardized measures for AMC, covering fetal development to adulthood.
  • Mapped AMC phenotypic traits using the Human Phenotype Ontology.
  • Identified universal governance, operating protocols, and sustainability plans as facilitators; limited data sharing capacity and informatics infrastructure as barriers.

Conclusions:

  • Systematic data collection using CDEs will enable standardized investigations into AMC etiology, epidemiology, and genotype-phenotype correlations.
  • The proposed CDEs will foster international collaborations, enhance large-scale studies, and promote knowledge translation.
  • Implementation requires addressing barriers such as electronic infrastructure and database terminology differences.