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Self-presentation is a fundamental aspect of social interaction, shaping both how others perceive individuals and how they view themselves. This dynamic process influences behaviors in various social settings, often leading people to adjust their appearance, speech, and demeanor to align with their desired identity. While self-presentation can be deliberate or unconscious, it plays a critical role in interpersonal relationships and self-perception.Forms of Self-PresentationSelf-presentation can...
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Effective self-presentation is a central component of social interaction and identity construction. It relies on the dynamic processes of defining the situation and engaging in self-disclosure. These mechanisms help individuals navigate social context expectations and manage how others perceive them, fostering mutual understanding and relationship development.Defining the SituationSocial situations are shaped by collectively understood frames—a set of widely understood rules or...
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Self-verification is a fundamental psychological drive wherein individuals seek affirmation of their self-concept from others, striving for consistency between their internal self-view and external perceptions. This drive operates even when the self-concept is negative, influencing interpersonal behavior and feedback preferences in complex and often counterintuitive ways. Unlike the self-enhancement motive, which seeks positive evaluations, self-verification prioritizes coherence and...
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Two siblings with Gaucher type 3c: different clinical presentations.

Miray Karakoyun1, Ebru Canda2, Ezgi Kiran Tasci1

  • 1Ege University Medicine School, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Izmir, Turkey.

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PubMed
Summary

Gaucher disease type 3c (GD) presents variably, even with the same D448H mutation. This study highlights liver and cardiac involvement, suggesting liver issues may be early indicators in GD type 3c.

Keywords:
Gaucher disease type 3ccardiomyopathyliver failuretransplantation

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Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Cardiovascular manifestations

Background:

  • Gaucher disease (GD) is a lysosomal storage disorder due to mutations in the glucocerebrosidase (GBA) gene.
  • GD type 3c is a rare subtype characterized by cardiovascular involvement.
  • The homozygous D448H mutation is the most frequent cause of GD type 3c.

Observation:

  • Two patients with homozygous D448H mutations were studied.
  • The index patient exhibited hepatosplenomegaly, liver insufficiency, and cardiac issues.
  • Her sister presented with severe cardiomyopathy and diffuse aortic calcification.

Findings:

  • Significant clinical variability was observed between the two patients.
  • The index patient underwent a liver transplant at 6 months.
  • The sister with severe cardiovascular disease died at age 12.

Implications:

  • This case series underscores the diverse clinical spectrum of Gaucher disease type 3c.
  • It raises the question of whether liver involvement could be an initial presenting sign in GD type 3c.
  • Further research is needed to understand the early diagnostic markers for GD type 3c.