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Related Concept Videos

Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

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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...
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Acute Coronary Syndrome I: Introduction01:30

Acute Coronary Syndrome I: Introduction

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Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
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Irritable Bowel Syndrome I: Introduction01:17

Irritable Bowel Syndrome I: Introduction

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Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
IBS is a chronic condition that can persist over a long period or recur frequently.
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Altered...
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Restless Leg Syndrome and Night Terrors01:27

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Restless Leg Syndrome (RLS), also known as Willis-Ekbom disease, is a neurological disorder characterized by an uncontrollable urge to move the legs due to uncomfortable sensations. These sensations typically occur during periods of rest or inactivity, particularly when lying down or sitting, and can severely disrupt sleep.
The exact cause of RLS is not fully understood, but it is believed to involve dopamine, a neurotransmitter that helps regulate muscle movement. Imbalances in dopamine levels...
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Acute Coronary Syndrome V: Nursing Management01:26

Acute Coronary Syndrome V: Nursing Management

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Nursing Assessment:Nursing management of acute coronary syndrome (ACS) involves taking the patient's history, focusing on primary complaints such as chest pain, dyspnea, and excessive sweating (diaphoresis), as well as other symptoms like back or jaw pain, nausea, vomiting, palpitations, dizziness, and fatigue. The nurse also reviews the patient's history of cardiac events, risk factors such as hypertension, diabetes, smoking, family history, and current medications.In the objective assessment,...
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Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

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IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
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Updated: Jan 28, 2026

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
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Williams syndrome.

Mark D Twite1, Scott Stenquist1, Richard J Ing1

  • 1Department of Anesthesiology, University of Colorado Anschutz Medical Campus & Children's Hospital Colorado, Aurora, Colorado.

Paediatric Anaesthesia
|February 28, 2019
PubMed
Summary
This summary is machine-generated.

Williams syndrome, a genetic disorder affecting elastin production, presents unique cardiovascular risks. This review details recent genetic and therapeutic advances and offers perioperative management strategies for affected individuals.

Keywords:
Williams syndromeWilliams-Beuren syndromeanesthesiaprolonged QTcpulmonary artery stenosissudden deathsupravalvar aortic stenosis

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Area of Science:

  • Genetics
  • Cardiology
  • Anesthesiology

Background:

  • Williams syndrome is a rare genetic disorder caused by deletions on chromosome 7q11.23, impacting elastin production.
  • Cardiovascular abnormalities are common in Williams syndrome, leading to increased perioperative risks.
  • Despite a well-characterized phenotype, ongoing research reveals new genetic and therapeutic insights.

Purpose of the Study:

  • To review recent genetic and therapeutic discoveries related to Williams syndrome.
  • To outline a structured approach for managing patients with Williams syndrome in the perioperative period.
  • To highlight the increased morbidity and mortality risks associated with sedation and anesthesia in this population.

Main Methods:

  • Literature review of recent studies on Williams syndrome genetics and therapeutics.
  • Analysis of perioperative management strategies for patients with cardiovascular abnormalities.
  • Synthesis of current knowledge on anesthetic considerations for Williams syndrome.

Main Results:

  • New genetic and therapeutic targets for Williams syndrome are emerging.
  • Cardiovascular complications remain a primary concern in the perioperative setting.
  • A structured perioperative approach can mitigate risks.

Conclusions:

  • Understanding recent advancements in Williams syndrome is crucial for effective patient care.
  • Proactive perioperative management is essential to address the unique challenges posed by cardiovascular abnormalities.
  • Further research into genetic and therapeutic interventions holds promise for improving outcomes.