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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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.
Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

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.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
Sex Linked Disorders01:43

Sex Linked Disorders

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.
Disorders of Acid-Base Balance01:29

Disorders of Acid-Base Balance

The human body maintains a precise pH range of arterial blood between 7.35 and 7.45. Deviations result in either acidosis (pH < 7.35) or alkalosis (pH > 7.45). These conditions are further classified as respiratory or metabolic disorders based on their underlying cause.
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Respiratory acidosis occurs due to an increase in the partial pressure of carbon dioxide PCO2 in the blood. It often arises from shallow breathing or impaired gas exchange caused by...
Barrett Esophagus-I: Introduction01:21

Barrett Esophagus-I: Introduction

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 similar...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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Updated: Jun 2, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Published on: March 23, 2022

[Barraquer-Simons syndrome].

N Mansouri Hattab1, S Lahmiti, S Aimadeddine

  • 1Unité de stomatologie et chirurgie maxillo-faciale, service de traumatologie A, université Cadi-Ayyad, CHU Mohammed-VI-Marrakech, Marrakech, Morocco. professeur.mansourinadia@yahoo.fr

Revue De Stomatologie Et De Chirurgie Maxillo-Faciale
|April 26, 2011
PubMed
Summary
This summary is machine-generated.

Barraquer-Simons syndrome is a rare childhood lipodystrophy causing fat loss. Free fat transplantation may effectively treat associated facial abnormalities.

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Area of Science:

  • Endocrinology
  • Genetics
  • Dermatology

Context:

  • Barraquer-Simons syndrome is a rare acquired partial lipodystrophy.
  • Characterized by progressive subcutaneous fat loss in the face, neck, trunk, and upper limbs.
  • Unknown etiology, predominantly affects females, leading to facial dysmorphia.

Purpose:

  • To describe the clinical characteristics of Barraquer-Simons syndrome.
  • To evaluate potential treatment options for facial abnormalities.
  • To highlight the efficacy of free fat transplantation.

Summary:

  • Acquired partial lipodystrophy presenting in childhood.
  • Progressive loss of subcutaneous adipose tissue.
  • Facial dysmorphia is a common manifestation.
  • Free fat grafting shows promise for facial reconstruction.

Impact:

  • Improves understanding of a rare lipodystrophy.
  • Offers insights into surgical management of facial deformities.
  • Provides a basis for future research into etiology and treatment.