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Aggregates Classification01:29

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Aggregate classification is generally based on its size, petrographic characteristics, weight, and source. Size classification ranges from coarse to fine aggregates, defined by the size of the particles. Coarse aggregates are particles that do not pass through ASTM sieve No. 4, and aggregates that pass through the sieve are fine aggregates.
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Speciation describes the formation of one or more new species from one or sometimes multiple original species. The resulting species are discrete from the parent species, and barriers to reproduction will typically exist. There are two primary mechanisms, speciation with and without geographic isolation—allopatric and sympatric speciation, respectively.
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Enthalpy changes are typically tabulated for reactions in which both the reactants and products are at the same conditions. A standard state is a commonly accepted set of conditions used as a reference point for the determination of properties under other different conditions. For chemists, the IUPAC standard state refers to materials under a pressure of 1 bar and solutions at 1 M and does not specify a temperature. Many thermochemical tables list values with a standard state of 1 atm. Because...
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Bonding and Strength of Aggregate01:12

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The bond between aggregate particles and the cement matrix is significantly influenced by the shape and surface texture of the aggregates. High-strength concretes benefit from a rougher texture, which leads to stronger bonding due to greater adhesion. Angular aggregates with larger surface areas also enhance this bond. The bonding quality, however, is complex to assess as no universally accepted test exists. Good bonding is indicated when a crushed concrete specimen shows some aggregate...
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Specific Gravity of Aggregate01:19

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Aggregate formation analysis of GFAP

Janyerkye Tulyeu1, Moe Tamaura2, Eriko Jimbo1

  • 1Deptartment of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan.

Brain & Development
|September 15, 2018
PubMed
Summary
This summary is machine-generated.

Alexander disease (AxD) is a rare neurodegenerative disorder affecting astrocytes. This case study details a 12-year-old girl diagnosed with AxD due to a GFAP gene mutation, highlighting GFAP aggregate formation.

Keywords:
AggregationAlexander disease (AxD)Glial fibrillary acidic protein (GFAP)Precocious puberty

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Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • Alexander disease (AxD) is a severe neurodegenerative disorder.
  • It results from mutations in the glial fibrillary acidic protein (GFAP) gene, affecting astrocytes.
  • GFAP mutations lead to the formation of characteristic protein aggregates.

Purpose of the Study:

  • To present a clinical case of Alexander disease in a pediatric patient.
  • To identify the specific GFAP mutation responsible for the disease in this case.
  • To investigate the in vitro mechanism of GFAP aggregate formation.

Main Methods:

  • Clinical case presentation of a 12-year-old girl with neurological symptoms.
  • Magnetic resonance imaging (MRI) to assess brain abnormalities.
  • Direct gene sequencing to identify mutations in the GFAP gene.
  • In vitro cell expression studies to analyze mutant GFAP protein behavior.

Main Results:

  • The patient exhibited symptoms including intermittent exotropia and central precocious puberty.
  • MRI revealed characteristic high signal intensities in the periventricular region and medulla oblongata.
  • A de novo recurrent mutation, c.1246C>T (p.R416W), in the GFAP gene was identified.
  • Transient expression of GFAP-R416W mutant protein in cells led to significant aggregate formation.

Conclusions:

  • This case confirms the association of GFAP mutations with Alexander disease in pediatric patients.
  • The identified GFAP-R416W mutation is pathogenic and causes hallmark protein aggregation.
  • In vitro aggregate formation studies provide insights into the molecular pathology of AxD.