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Related Concept Videos

Gastroesophageal Reflux Disease II: Clinical Features and Management01:29

Gastroesophageal Reflux Disease II: Clinical Features and Management

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Gastroesophageal reflux disease, or GERD, is a persistent medical condition that affects many individuals worldwide. Its clinical manifestations can vary greatly, making diagnosis and management challenging for healthcare professionals. The following is a comprehensive overview of the clinical manifestations, assessment, and management strategies for GERD.
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
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Esophageal Perforation-II: Clinical Manifestations and Management01:28

Esophageal Perforation-II: Clinical Manifestations and Management

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Esophageal perforations manifest in various clinical forms, influenced by factors such as the perforation's cause and location (cervical, intrathoracic, or intra-abdominal), the extent of contamination, and potential injury to adjacent mediastinal structures. The timing between the perforation occurrence and treatment initiation also affects the clinical presentation.
Clinical Manifestations:
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Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

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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.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
1.1K
Esophageal Varices-II: Clinical Features and Management01:28

Esophageal Varices-II: Clinical Features and Management

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Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
605
Gastritis III: Clinical Manifestations and Management01:23

Gastritis III: Clinical Manifestations and Management

1.3K
The clinical manifestations of gastritis can vary depending on the cause and type of gastritis, but some common symptoms may include the following.
Clinical manifestations of acute gastritis
The patient with acute gastritis may have a rapid onset of symptoms, such as epigastric pain or discomfort, dyspepsia, anorexia, hiccups, or nausea and vomiting, which can last from a few hours to a few days. Erosive or hemorrhagic gastritis may cause bleeding, which may manifest as blood in vomit or as...
1.3K
Esophageal Strictures-II: Clinical Features and Management01:26

Esophageal Strictures-II: Clinical Features and Management

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Patients with esophageal strictures often experience a range of symptoms. Initially, they may have difficulty swallowing solid foods, which can progress to include liquids. Additional symptoms may involve chest pain or discomfort, regurgitating food and fluids, heartburn, unintentional weight loss, coughing or choking during meals, and hoarseness.
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
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Consensus clinical management guidelines for Niemann-Pick disease type C.

Tarekegn Geberhiwot1, Alessandro Moro2, Andrea Dardis2

  • 1Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK. tarekegn.hiwot@uhb.nhs.uk.

Orphanet Journal of Rare Diseases
|April 8, 2018
PubMed
Summary

Clinical guidelines for Niemann-Pick Type C (NPC) disease have been developed to improve care for this rare genetic disorder. These guidelines establish a standard of care, addressing diagnostic and treatment challenges for NPC patients.

Keywords:
DiagnosisGuidelinesManagementNPCNiemann-Pick Type C

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Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Neurodegenerative diseases

Background:

  • Niemann-Pick Type C (NPC) is a rare, progressive, and fatal autosomal recessive disorder.
  • Caused by NPC1 or NPC2 gene mutations, NPC leads to abnormal endosomal-lysosomal trafficking and lipid accumulation.
  • The disease presents a wide clinical spectrum, from neonatal to adult-onset neurodegeneration, with symptom onset predicting severity.