[The home health care experience in a model chronic, degenerative, genetic pathology: Huntington's disease]

A G Jacopini1, P Zinzi, A Frustaci

  • 1Istituto di Psicologia, Consiglio Nazionale delle Ricerche, Roma.

Related Concept Videos

Huntington Disease l: Introduction01:21

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,...
Documentation in Long-Term and Home Healthcare Setting01:29

Documentation in Long-Term and Home Healthcare Setting

Documentation in long-term care facilities and home healthcare settings is crucial for ensuring continuous, coordinated, and comprehensive care for patients. Each setting has its specific documentation processes and tools:
Long-Term Care Facilities
Methods of Documentation VI: Case Management Model01:15

Methods of Documentation VI: Case Management Model

The case management model is a multidisciplinary approach that involves healthcare professionals from diverse disciplines, such as physicians, nurses, therapists, social workers, and pharmacists, working collaboratively to address the various needs of patients. Each healthcare professional brings unique expertise and perspectives, contributing to a more comprehensive understanding of the patient's condition and tailoring treatment plans accordingly.
For example, a patient with a chronic illness...
Continuing Care01:25

Continuing Care

Continuing care describes the variety of health, personal, and social services provided over a prolonged period. The need for continuing care is increasing because people are living longer. Many people do not have families or others to care for them. Continuing care is mainly for patients who are disabled, functionally dependent, or suffering from a terminal disease. It is available within institutional settings or in homes. Examples include nursing centers or facilities, assisted living,...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...