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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.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
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Restless Leg Syndrome and Night Terrors01:27

Restless Leg Syndrome and Night Terrors

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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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Related Experiment Video

Updated: Feb 11, 2026

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells
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Tumor Syndromes Predisposing to Osteosarcoma.

Meera Hameed1, Diana Mandelker

  • 1Department of Pathology, Memorial Sloan Kettering Cancer Center, NewYork, NY.

Advances in Anatomic Pathology
|April 19, 2018
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Summary

Osteosarcoma, a common bone cancer in young people, can be linked to genetic predispositions and hereditary cancer syndromes. This review focuses on syndromes like Li-Fraumeni that increase osteosarcoma risk.

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Last Updated: Feb 11, 2026

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Three-Dimensional Bone Extracellular Matrix Model for Osteosarcoma
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Area of Science:

  • Oncology
  • Genetics
  • Pediatric Cancer

Background:

  • Osteosarcoma (OS) is the most frequent primary bone malignancy, primarily affecting adolescents and young adults.
  • It represents approximately 5% of all pediatric cancers.
  • While most OS cases are sporadic, a subset is associated with hereditary cancer syndromes, indicated by early onset or multiple tumors.

Purpose of the Study:

  • To review hereditary cancer syndromes predisposing to osteosarcoma.
  • To highlight the genetic basis of increased OS risk in specific populations.
  • To focus on prevalent syndromes including Li-Fraumeni, retinoblastoma, Rothmund-Thompson syndrome (type 2), Werner syndrome, and Bloom syndrome.

Main Methods:

  • Literature review of hereditary cancer syndromes associated with osteosarcoma.
  • Analysis of genetic predisposition patterns (autosomal dominant/recessive).
  • Identification of key mutations linked to specific cancer subtypes.

Main Results:

  • Hereditary cancer syndromes account for a small but significant percentage of OS cases.
  • Genetic predisposition can manifest as early-onset, multifocal, or bilateral tumors.
  • Specific syndromes like Li-Fraumeni, retinoblastoma, Rothmund-Thompson syndrome (type 2), Werner syndrome, and Bloom syndrome are major contributors.

Conclusions:

  • Understanding hereditary cancer syndromes is crucial for identifying individuals at high risk for osteosarcoma.
  • Genetic counseling and targeted surveillance are important for families with a history of these syndromes.
  • Further research into the genetic underpinnings of OS can improve early detection and treatment strategies.