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Related Concept Videos

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Robinson annulation is a base-catalyzed reaction for the synthesis of 2-cyclohexenone derivatives from 1,3-dicarbonyl donors (such as cyclic diketones, β-ketoesters, or β-diketones) and α,β-unsaturated carbonyl acceptors. Named after Sir Robert Robinson, who discovered it, this reaction yields a six-membered ring with three new C–C bonds (two σ bonds and one π bond).
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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 (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 (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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Updated: Feb 5, 2026

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
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Snyder-Robinson syndrome.

Rachel Starks1, Patricia Kirby1, Michael Ciliberto2

  • 1University of Iowa Hospitals and Clinics, Department of Pathology. Iowa City, IA, United States of America.

Autopsy & Case Reports
|September 22, 2018
PubMed
Summary
This summary is machine-generated.

Snyder-Robinson syndrome, a rare X-linked intellectual disability, is caused by spermine synthase deficiency. This case highlights key clinical features and the importance of genetic testing for accurate diagnosis.

Keywords:
Intellectual DisabilityMental Retardation, X-linkedSnyder-Robinson syndromeSpermine Synthase

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Snyder-Robinson syndrome is an X-linked intellectual disability syndrome characterized by specific physical and neurological features.
  • It is caused by deficiency of the spermine synthase (SMS) enzyme.

Observation:

  • A pediatric autopsy of a 4-year-old male with diagnosed Snyder-Robinson syndrome is presented.
  • The patient exhibited intellectual disability, gait abnormalities, multiple fractures, seizures, and an SMS gene mutation (c.831G>T:p.L277F).

Findings:

  • The cause of death was hypoxic-ischemic encephalopathy, a complication of prolonged seizure activity.
  • This case underscores the characteristic clinical presentation of Snyder-Robinson syndrome.

Implications:

  • Early recognition of clinical findings is crucial for timely genetic testing and diagnosis of this rare syndrome.
  • Increased awareness may help reduce underdiagnosis of Snyder-Robinson syndrome.