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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 7, 2026

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
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[Ichthyosis prematurity syndrome: Two new cases].

M Severino-Freire1, A-C Bing Lecointe2, E Bourrat3

  • 1Service de dermatologie, centre de référence des maladies rares de la peau, hôpital Larrey, CHU Toulouse, 24, chemin de Pouvourville, 31059 Toulouse cedex 9, France; UDEAR - UMR 1056 Inserm, université de Toulouse, hôpital Purpan, 31300 Toulouse, France.

Annales De Dermatologie Et De Venereologie
|August 6, 2018
PubMed
Summary

Ichthyosis prematurity syndrome, a rare condition caused by FATP4 mutations, presents with a characteristic thick, caseous vernix-like skin at birth. Early diagnosis is crucial for genetic counseling and neonatal care.

Keywords:
Détresse respiratoireFATP4Fatty acid transporter protein 4Ichthyosis prematurity syndromePolyhydramniosRespiratory distressRisque vitalSyndrome « ichtyose-prématurité »Vital risk

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Area of Science:

  • Dermatology
  • Genetics
  • Neonatology

Background:

  • Ichthyosis prematurity syndrome (IPS) is a rare genetic disorder.
  • It results from mutations in the FATP4 gene, crucial for fatty acid metabolism and epidermal barrier function.
  • Clinicians often overlook IPS despite its distinct neonatal presentation.

Observation:

  • Two cases of premature infants presented with respiratory distress and a thick, caseous, vernix-like skin covering.
  • Affected areas included the scalp, forehead, limbs, and abdomen.
  • Both infants' skin normalized by ages 2 and 4 years.

Findings:

  • The study reports two new cases of Ichthyosis prematurity syndrome.
  • Clinical findings included premature birth, respiratory distress, and characteristic skin presentation.
  • Genetic analysis confirmed FATP4 mutations as the underlying cause.

Implications:

  • Prompt diagnosis of IPS is essential for appropriate neonatal management.
  • Genetic counseling is vital for families with IPS.
  • Understanding FATP4 gene function aids in managing epidermal barrier disorders.