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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

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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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Acute Coronary Syndrome V: Nursing Management01:26

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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: Feb 2, 2026

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

Asad Ullah Jan1, Sajjad Ahmad1, Tehseen Ahmad Cheema1

  • 1National Orthopaedic Hospital, Bahawalpur, Pakistan.

Journal of Ayub Medical College, Abbottabad : JAMC
|November 23, 2018
PubMed
Summary
This summary is machine-generated.

Ellis Van Creveld (EVC) syndrome is a rare genetic disorder characterized by dwarfism, ectodermal dysplasia, polydactyly, and heart defects. This autosomal recessive condition affects approximately 7 in 1,000,000 individuals globally.

Keywords:
Chondroectodermal dysplasiaEllis Van Creveld syndromePostaxial Polydactyly

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Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Medicine

Background:

  • Ellis Van Creveld (EVC) syndrome is a rare autosomal recessive congenital disorder.
  • First described in 1940, EVC syndrome has a notable prevalence in specific populations like the Amish.
  • Parental consanguinity is observed in approximately 30% of diagnosed cases.

Observation:

  • The syndrome presents with a distinct tetrad of clinical features.
  • Key characteristics include disproportionate dwarfism and ectodermal dysplasia.
  • Additional features are bilateral postaxial polydactyly and congenital heart defects.

Findings:

  • EVC syndrome is a rare genetic disorder with an incidence of 7/1,000,000 in the general population.
  • The Amish population exhibits a higher incidence, reported at 1/5000 live births.
  • Worldwide, only about 150 cases have been documented.

Implications:

  • Accurate diagnosis of EVC syndrome relies on recognizing the characteristic tetrad of symptoms.
  • Understanding population-specific incidences aids in genetic counseling and research.
  • Further research into EVC syndrome can improve management strategies for affected individuals.