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Related Concept Videos

Functional Classification of Joints01:09

Functional Classification of Joints

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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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Classification of Bones01:18

Classification of Bones

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The bones of the human skeletal system are of varied shapes, sizes, and functions. They can be classified based on their shape and function into four major classes: long bones, short bones, flat bones, and irregular bones. Some classifications include a fifth type, the sesamoid bones, as a separate class, whereas others categorize them under short bones.
Long and Short Bones
The appendicular skeleton, particularly the upper and lower limbs, is primarily made of long and short bones. The...
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Nondisjunction01:21

Nondisjunction

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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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Nondisjunction01:29

Nondisjunction

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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Classification of Skeletal Muscle Fibers01:48

Classification of Skeletal Muscle Fibers

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Skeletal muscles continuously produce ATP to provide the energy that enables muscle contractions. Skeletal muscle fibers can be categorized into three types based on differences in their contraction speed and how they produce ATP, as well as physical differences related to these factors. Most human muscles contain all three muscle fiber types, albeit in varying proportions.
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Slow oxidative, muscle fibers appear red due to large numbers of capillaries and high levels of...
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Muscles of the Leg that Move the Foot and Toes01:28

Muscles of the Leg that Move the Foot and Toes

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The human leg comprises an intricate system of muscles that facilitate the movement of feet and toes. Within this system, the muscles are categorized into the anterior, lateral, and posterior compartments, each with a unique set of muscles carrying out specific functions.
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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Nonsyndromic Split-Hand/Foot Malformation: Recent Classification.

Muhammad Umair1,2,3, Amir Hayat4,5

  • 1Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.

Molecular Syndromology
|February 6, 2020
PubMed
Summary
This summary is machine-generated.

Split-hand/foot malformation (SHFM) is a rare genetic limb anomaly. This review updates clinical and molecular aspects of nonsyndromic SHFM, aiding diagnosis and management.

Keywords:
EctrodactylyLimb malformationRecent classificationSHFMSkeletal disorder

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Split-hand/foot malformation (SHFM) is a congenital limb defect affecting the central digits.
  • It presents as a genetically heterogeneous disorder with both syndromic and nonsyndromic forms.
  • Nonsyndromic SHFM exhibits significant clinical variability and complex inheritance patterns.

Purpose of the Study:

  • To provide an updated overview of the clinical and molecular aspects of nonsyndromic SHFM.
  • To consolidate current knowledge on major molecular genetic alterations associated with nonsyndromic SHFM.
  • To aid researchers, scientists, and clinicians in diagnosis, recurrence risk assessment, and management.

Main Methods:

  • Literature review of nonsyndromic SHFM.
  • Analysis of reported clinical presentations.
  • Compilation of molecular genetic findings.

Main Results:

  • Nonsyndromic SHFM is characterized by diverse clinical manifestations.
  • Several major molecular genetic alterations have been identified.
  • Understanding these alterations is crucial for accurate diagnosis.

Conclusions:

  • This updated overview synthesizes current knowledge on nonsyndromic SHFM.
  • It serves as a resource for improving molecular diagnosis and genetic counseling.
  • Effective management strategies rely on precise genetic understanding.