Video Experimental Relacionado
Updated: Aug 6, 2026
08:44
Isolating Potentiated Hsp104 Variants Using Yeast Proteinopathy Models
Published on: November 11, 2014
Heredopathia atactica polyneuritiformis (enfermedad de Refsum) tratada con la dieta y el intercambio de plasma
Lancet (London, England)
|March 17, 1979
Resumen
El intercambio de plasma de gran volumen trató eficazmente la enfermedad grave de Refsum. El manejo dietético requiere una baja ingesta de ácido fitánico y una alta ingesta calórica para evitar la movilización de las reservas de grasa.
Área de la Ciencia:
- Neurología Neurología.
- Trastornos metabólicos Los trastornos metabólicos son trastornos metabólicos que se producen en el cuerpo.
- Genética La genética.
Sus antecedentes:
- La enfermedad de Refsum (heredopathia atactica polyneuritiformis) es un trastorno genético poco común.
- Se caracteriza por la acumulación de ácido fitánico debido a la oxidación alfa alterada.
Objetivo del estudio:
- Informar sobre el tratamiento exitoso de la enfermedad grave de Refsum mediante el intercambio de plasma.
- Para resaltar la importancia del manejo dietético integral en la enfermedad de Refsum.
Principales métodos:
- El tratamiento implicó el intercambio de plasma de gran volumen.
- La intervención dietética se centró en restringir el ácido fitánico y aumentar la ingesta calórica.
Principales resultados:
- El paciente mostró una respuesta positiva significativa a la terapia de intercambio de plasma.
- Una dieta alta en calorías fue crucial para prevenir la movilización del ácido fitánico desde el tejido adiposo.
Conclusiones:
- El intercambio de plasma es una opción terapéutica viable para la enfermedad de Refsum grave.
- El manejo dietético efectivo de la enfermedad de Refsum requiere un enfoque dual: bajo ácido fitánico y alta ingesta calórica.
Videos de Conceptos Relacionados
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
01:21Smooth Endoplasmic Reticulum
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
01:20Myasthenia Gravis: Overview and Treatment
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
01:17Drugs for Treatment of Diarrhea-Predominant IBS
Diarrhea-predominant irritable bowel syndrome (IBS-D) is a subtype of IBS characterized primarily by frequent, loose, or watery stools, abdominal pain, and abdominal discomfort. Therapeutic approaches to managing IBS-D include dietary changes, stress management techniques, and pharmaceutical interventions.
Two specific drugs used in the treatment are alosetron (Lotronex) and eluxadoline (Viberzi). Alosetron, a 5-HT3 antagonist, works by slowing the movement of stools in the gut, reducing bowel...
Two specific drugs used in the treatment are alosetron (Lotronex) and eluxadoline (Viberzi). Alosetron, a 5-HT3 antagonist, works by slowing the movement of stools in the gut, reducing bowel...
01:29Chronic Pancreatitis II: Collaborative Care
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
Assessment:
01:30Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the colonic...
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the colonic...