Search research articles

ACERCA DE JoVE

Visión General Liderazgo Blog Centro de Ayuda JoVE

AUTORES

Proceso de Publicación Consejo Editorial Alcance y Políticas Revisión por Pares Preguntas Frecuentes Enviar

BIBLIOTECARIOS

Testimonios Suscripciones Acceso Recursos Consejo Asesor de Bibliotecas Preguntas Frecuentes

INVESTIGACIÓN

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archivo

EDUCACIÓN

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Centro de Recursos para Profesores Sitio de Profesores

Términos y Condiciones de Uso

Política de Privacidad

Videos de Conceptos Relacionados

Pedigree Analysis

Pedigree Analysis

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...

Huntington Disease l: Introduction

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

Inflammatory Bowel Disease III: Crohn's Disease

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...

Chronic Pancreatitis II: Pathophysiology

Chronic Pancreatitis II: Pathophysiology

Chronic pancreatitis is a progressive and irreversible inflammation of the pancreas, most often caused by long-term alcohol abuse, but it can also be related to ductal obstruction, smoking, or genetic factors.Chronic pancreatitis occurs when the pancreas is repeatedly exposed to harmful agents like alcohol, smoking, ductal obstruction, or genetic predisposition. These factors lead to the release of toxic metabolites and inflammatory cytokines, sustaining chronic inflammation in the pancreatic...

También podría leer

Artículos Relacionados

Artículos vinculados a este trabajo por autores compartidos, revista y gráfico de citas.

Ordenar por

Same author

Diagnostic Utility and Clinical Implications of Inpatient Fecal Occult Blood Testing.

Southern medical journal·2026

Same author

Prehabilitation in Obese Patients with Ventral Hernia: A Narrative Review and Proposal of a Clinical Algorithm.

Journal of clinical medicine·2026

Same author

Know Your Guidelines Series: The ACG and AGA Guideline on Management of Constipation.

Southern medical journal·2026

Same author

Extraintestinal malignancies in inflammatory bowel disease - deciphering hazardous relationships: A literature review.

Dental and medical problems·2025

Same author

What Is Diverticulitis?

JAMA·2025

Same author

Multidisciplinary Assessment and Management of Functional Dysphagia.

Gastro hep advances·2025

Same journal

Serum GRP78 as a potential biomarker for early liver injury and active fibrogenesis in alcohol-associated liver disease.

Clinical and experimental medicine·2026

Same journal

Beyond polarization: a receptor-centered framework for macrophage function and therapy in skin diseases.

Clinical and experimental medicine·2026

Same journal

UBA2: the gatekeeper of the sumoylation pathway and its multifaceted roles in human diseases and therapeutic prospects.

Clinical and experimental medicine·2026

Same journal

Clonal Metamorphosis: Deconstructing MPN Evolution with Single-Cell and Spatial Multi-Omics.

Clinical and experimental medicine·2026

Same journal

Identifying coagulation-related biomarkers in steroid-induced osteonecrosis of the femoral head: implications for early diagnosis and treatment.

Clinical and experimental medicine·2026

Same journal

KIF7 promotes the proliferation of clear cell renal cell carcinoma by activating the WNT/β-catenin signaling pathway.

Clinical and experimental medicine·2026

Ver todos los artículos relacionados

Search research articles

Video Experimental Relacionado

Updated: May 8, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Descifrando la complejidad de la enfermedad de Whipple

Jakub Korybski¹, Jakub Zelig², Shreya Narayanan^3,4

¹Jan Mikulicz-Radecki University Hospital, Wroclaw, Poland. jakub.korybski@gmail.com.

Clinical and experimental medicine

|February 6, 2026

Resumen

Este resumen es generado por máquina.

La enfermedad de Whipple, causada por Tropheryma whipplei, presenta síntomas diversos, lo que dificulta el diagnóstico. Esta revisión actualiza el conocimiento sobre su epidemiología, diagnóstico y tratamiento, destacando los desafíos y las necesidades de investigación.

Palabras clave:

Artralgia Endocarditis con cultivo negativo Gastroenteritis Tropheryma whipplei Enfermedad de Whipple

Más Videos Relacionados

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Videos de Experimentos Relacionados

Last Updated: May 8, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Área de la Ciencia:

Enfermedades Infecciosas
Microbiología
Gastroenterología

Sus antecedentes:

La enfermedad de Whipple es una afección infecciosa rara causada por Tropheryma whipplei.
Afecta aproximadamente a 1 de cada millón de personas, presentándose con síntomas variados como diarrea, artralgia, fiebre y lipodistrofia.
Las diversas manifestaciones clínicas plantean importantes desafíos diagnósticos.

Objetivo del estudio:

Proporcionar una visión general actualizada de la enfermedad de Whipple.
Enfocarse en la epidemiología, fisiopatología, predisposición genética, características clínicas, diagnóstico, IRIS y tratamiento.
Explorar los desafíos diagnósticos y de manejo, las limitaciones del tratamiento y las necesidades de investigación.

Principales métodos:

Revisión exhaustiva de la literatura.
Síntesis del conocimiento actual sobre las infecciones por Tropheryma whipplei.
Análisis de las estrategias diagnósticas y terapéuticas.

Principales resultados:

Tropheryma whipplei es una bacteria grampositiva responsable de la enfermedad de Whipple.
Las presentaciones clínicas son muy variables, lo que complica el diagnóstico.
Las opciones de tratamiento actuales tienen limitaciones, lo que requiere más investigación.

Conclusiones:

El diagnóstico y el manejo de la enfermedad de Whipple son complejos debido a las presentaciones variables y los tratamientos limitados.
Se necesitan más investigaciones y directrices actualizadas para mejorar los resultados de los pacientes.
La comprensión de la predisposición genética y las respuestas inmunitarias es clave.