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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

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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

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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.
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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.
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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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Recurrent Glioblastoma with Turcot Syndrome.

Zhuohua Fu1, Gang Deng, Jie Zhang

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Turcot syndrome, a rare genetic disorder, presents with brain tumors and colorectal cancer. This case highlights the importance of molecular diagnostics for early detection and management of this poor-prognosis condition.

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Area of Science:

  • Oncology
  • Genetics
  • Neurology

Background:

  • Turcot syndrome (TS) is a rare genetic disorder.
  • It is characterized by brain tumors and colorectal cancer.
  • Prognosis for TS patients is typically poor.

Purpose of the Study:

  • To report a case of Turcot syndrome in a 57-year-old man.
  • To highlight the role of molecular diagnostics in TS diagnosis and management.
  • To discuss rare genetic mutations associated with TS.

Main Methods:

  • Case report of a patient with TS.
  • Robot-assisted stereotactic surgery for CNS tumor resection.
  • Molecular genetic analysis including DNA mismatch repair (MMR) gene, ATM, and TP53 mutations.

Main Results:

  • Diagnosis of TS confirmed by microsatellite instability in MMR gene.
  • Detection of additional ATM and TP53 gene mutations.
  • Patient experienced neurological deterioration and died 15 months after symptom onset despite Stupp regimen treatment.

Conclusions:

  • Molecular diagnostics are crucial for guiding TS patient care.
  • Early diagnosis, genetic testing, and preventive measures are essential for effective management.
  • This case underscores the challenges in managing TS, even with advanced treatments.