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Related Concept Videos

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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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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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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: Jan 30, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

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Apert syndrome without craniosynostosis.

Diego de Ângelis Ramos1, Hamilton Matushita2, Daniel Dante Cardeal2

  • 1Hospital das Clínicas, School of Medicine, University of São Paulo, Street Eneas de Carvalho, 255, Pinheiros, São Paulo, Brazil. dieangelis@hotmail.com.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|January 16, 2019
PubMed
Summary
This summary is machine-generated.

Apert syndrome, a craniosynostosis disorder, typically involves craniofacial abnormalities. This case highlights an unusual Apert syndrome diagnosis in a child lacking craniosynostosis, confirmed genetically.

Keywords:
Apert syndromeAtypical caseCraniosynostosisFibroblast growth factor receptors (FGFR)2

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • Apert syndrome is a rare genetic disorder characterized by syndromic craniosynostosis, presenting with distinct craniofacial, hand, and foot malformations.
  • Genetic analysis, specifically identifying mutations in FGFR2 (Ser252Trp and Pro253Arg), is crucial for confirming the diagnosis.

Observation:

  • This report details an atypical case of Apert syndrome in a 1.5-year-old girl.
  • The patient exhibited Apert syndrome confirmed by genetic testing.
  • Notably, this case lacked the hallmark craniosynostosis.

Findings:

  • Genetic testing confirmed Apert syndrome.
  • The absence of craniosynostosis in a genetically confirmed case is highly unusual.
  • This challenges the typical presentation of Apert syndrome.

Implications:

  • This atypical presentation expands the known clinical spectrum of Apert syndrome.
  • It underscores the importance of genetic confirmation beyond typical phenotypic features.
  • Further research may elucidate genotype-phenotype correlations in syndromic craniosynostosis.