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Related Concept Videos

Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

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Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
Pleiotropy01:33

Pleiotropy

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Related Experiment Videos

Proteus syndrome: A rare case report.

Keerthi Talari1, Praveen Kumar Arinaganhalli Subbanna, Deepak Amalnath

  • 1Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.

Indian Journal of Human Genetics
|May 30, 2013
PubMed
Summary
This summary is machine-generated.

Proteus syndrome, a rare hamartomatous disorder, can present with unusual symptoms. This case highlights its rare association with myocardial infarction and finger hypertrophy.

Keywords:
Gigantismhamartomamosaicismproteus syndrome

Related Experiment Videos

Area of Science:

  • Medical Genetics
  • Dermatology
  • Cardiology

Background:

  • Proteus syndrome (PS) is a rare genetic disorder characterized by mosaic overgrowth and various hamartomatous lesions.
  • Key features include epidermal nevi, vascular malformations, lipomas, and hemihyperplasia, with partial gigantism being pathognomonic.
  • PS results from somatic mosaic activating mutations in the AKT1 gene.

Observation:

  • A 50-year-old male presented with an inferior wall myocardial infarction.
  • During cardiac evaluation, hypertrophy of the index and middle fingers of both hands was incidentally noted.
  • The patient's clinical presentation and physical examination were consistent with Proteus syndrome.

Findings:

  • This case represents a rare co-occurrence of Proteus syndrome and myocardial infarction.
  • The digital hypertrophy observed in this patient is an unusual manifestation of Proteus syndrome.
  • The incidental finding of finger hypertrophy in a patient with cardiac issues underscores the diverse clinical spectrum of PS.

Implications:

  • This case expands the known clinical manifestations of Proteus syndrome, particularly its association with cardiovascular events.
  • It emphasizes the importance of a comprehensive clinical evaluation in patients with Proteus syndrome to identify potential co-morbidities.
  • Further research is needed to understand the potential link between Proteus syndrome and cardiovascular pathologies.