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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

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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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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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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

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ROSAH syndrome lacking splenomegaly and complete anhidrosis.

Luiza De Gregori Dutra1, Gisandra de Fátima Stangherlin1, Heloísa Chiarini1

  • 1School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil.

BMJ Case Reports
|February 5, 2026
PubMed
Summary

ROSAH syndrome, a rare autoinflammatory disorder, presents variably. This report details the first Latin American case, highlighting that atypical symptoms do not rule out diagnosis and early genetic testing is crucial for vision preservation.

Keywords:
AutoimmunityGeneticsRetinaRheumatology

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Area of Science:

  • Genetics and Molecular Biology
  • Immunology
  • Ophthalmology

Background:

  • ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis, headache) syndrome is a rare multisystem autoinflammatory disorder.
  • It is caused by heterozygous gain-of-function mutations in the *ALPK1* gene.
  • The clinical spectrum of ROSAH syndrome extends beyond its defining acronym.

Purpose of the Study:

  • To report the first genetically confirmed case of ROSAH syndrome in Latin America.
  • To illustrate the variable expressivity of ROSAH syndrome.
  • To emphasize the importance of early recognition and genetic testing for timely intervention.

Main Methods:

  • Clinical case reporting of a proband and her mother.
  • Genetic testing to identify the *ALPK1* p.Thr237Met variant.
  • Retrospective analysis of clinical features, including hypohidrosis.

Main Results:

  • The proband presented with retinal dystrophy, xerostomia, short dental roots, fevers, and elevated C-reactive protein, but lacked splenomegaly and anhidrosis.
  • Mild hypohidrosis was identified retrospectively in the proband.
  • The mother, carrying the same *ALPK1* variant, presented with blindness, severe arthritis, fevers, hypohidrosis, and inability to lactate.

Conclusions:

  • The variable expressivity of ROSAH syndrome necessitates considering the diagnosis even in the absence of classic features.
  • Early recognition and genetic confirmation of *ALPK1* mutations are essential.
  • Prompt initiation of immunomodulatory therapy may prevent vision loss.