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Related Concept Videos

Barrett Esophagus-I: Introduction01:21

Barrett Esophagus-I: Introduction

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Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...
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Barrett Esophagus-II: Clinical Manifestations and Management01:21

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Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
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Sex-linked Disorders01:43

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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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The Retinoblastoma Gene01:20

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Related Experiment Video

Updated: Mar 14, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Barraquer-Simons Syndrome.

Juan E Small1, Yasir N Jassam1, Kirstin M Small2

  • 1Lahey Hospital and Medical Center, Burlington, MA.

The American Journal of the Medical Sciences
|September 22, 2016
PubMed
Summary
This summary is machine-generated.

Barraquer-Simons syndrome (BSS) involves fat loss, but this study reveals unique bone marrow involvement and sparing of deep neck and armpit fat. This finding highlights the importance of detailed imaging in understanding BSS.

Keywords:
Barraquer-SimonsEndocrinologyHypocomplementemiaLipodystrophiesMagnetic resonance imaging

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Area of Science:

  • Endocrinology
  • Radiology
  • Genetics

Background:

  • Barraquer-Simons syndrome (BSS) is a rare acquired lipodystrophy.
  • Characterized by symmetric subcutaneous fat loss, hypocomplementemia, diabetes, and hypertriglyceridemia.
  • Limited research exists on BSS body fat distribution using cross-sectional imaging.

Observation:

  • Presents two cases of Barraquer-Simons syndrome.
  • Utilizes cross-sectional imaging for detailed phenotypic analysis.
  • First documentation of bone marrow involvement in BSS.

Findings:

  • Magnetic resonance imaging (MRI) reveals previously unreported bone marrow involvement in BSS.
  • MRI demonstrates sparing of deep cervical (nuchal) and axillary fat depots.
  • Identifies specific fat distribution patterns in BSS.

Implications:

  • Phenotypic characterization through imaging is crucial for understanding lipodystrophies.
  • Highlights potential for overlooked findings in BSS diagnosis and research.
  • Emphasizes the need for meticulous cross-sectional imaging analysis in future BSS studies.