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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

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.
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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.
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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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Treacher Collins Syndrome.

Albaraa Aljerian1, Mirko S Gilardino2

  • 1Division of Plastic and Reconstructive Surgery, McGill University Health Center, 1001 Decarie Boulevard, B05.3310, Montreal, Quebec H4A 3J1, Canada.

Clinics in Plastic Surgery
|March 11, 2019
PubMed
Summary
This summary is machine-generated.

Treacher Collins syndrome is a rare genetic disorder affecting craniofacial development. Management involves specialized teams and surgical reconstruction for lifelong care.

Keywords:
Congenital airwayFacial deformityFranceschetti-Klein syndromeMalar hypoplasiaMandibular distractionMandibular hypoplasiaMicrotiaTreacher Collins syndrome

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Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Surgery

Background:

  • Treacher Collins syndrome is a rare genetic disorder characterized by significant craniofacial abnormalities.
  • It presents with a highly variable phenotype, impacting facial structure and potentially leading to life-threatening complications.
  • Key features include malar hypoplasia, maxillomandibular hypoplasia, and ear anomalies.

Purpose of the Study:

  • To outline current treatment strategies for Treacher Collins syndrome.
  • To discuss future concepts in the surgical management of this complex disorder.
  • To highlight the necessity of specialized, multidisciplinary care.

Main Methods:

  • Review of current standard craniofacial surgical procedures.
  • Discussion of lifelong management approaches.
  • Exploration of emerging surgical concepts.

Main Results:

  • Treacher Collins syndrome necessitates comprehensive, lifelong care from a specialized craniofacial team.
  • Surgical management relies on established bony and soft tissue reconstruction techniques.
  • The variable nature of the syndrome requires individualized treatment plans.

Conclusions:

  • Effective management of Treacher Collins syndrome demands a multidisciplinary approach.
  • Surgical interventions aim to correct significant craniofacial dysmorphies.
  • Ongoing research and innovation are crucial for advancing treatment outcomes.