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Related Concept Videos

Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

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Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
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Peripheral Nervous System: Ganglia and Nerves01:24

Peripheral Nervous System: Ganglia and Nerves

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The Peripheral Nervous System (PNS) is a crucial component of the body's neural network, extending beyond the central nervous system (CNS) to bridge the gap between the CNS and the external environment. It encompasses nerves, ganglia, and sensory receptors.
Nerves
The nerve is a bundle of axons that serves as the communication highway in the PNS. Each nerve is ensheathed in a protective layer of connective tissue called the epineurium. This outermost layer safeguards the nerve and supports the...
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Local Anesthetics: Differential Sensitivity of Nerve Fibers01:24

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Local anesthetics (LAs) block the sodium channels of nerve trunks, sensory nerve endings, and neuromuscular junctions. Although LAs can block all kinds of nerves, the sensitivity of nerve fibers differs according to nerve types and structures. LAs are known to block myelinated fibers faster than unmyelinated ones. Also, they block pain or sensory neurons at low concentrations without affecting the motor neurons involved in muscle contractions. This helps relieve labor pain without affecting the...
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Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

213
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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Peripheral Artery Disease IV: Nursing Management01:26

Peripheral Artery Disease IV: Nursing Management

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 The nursing management of a patient with peripheral artery disease (PAD) begins with a thorough assessment of the patient’s health history and clinical manifestations.AssessmentHealth History: Evaluate the patient’s history of hypertension, hyperlipidemia, family history of cardiovascular issues, and lifestyle factors such as dietary patterns, smoking, and physical activity.Physical Examination:Assess the affected extremity for decreased or absent peripheral pulses,...
202
Peripheral Artery Disease V: Postoperative Nursing Management01:23

Peripheral Artery Disease V: Postoperative Nursing Management

196
During the postoperative period, it is crucial to focus on maintaining circulation, identifying and managing potential complications, and planning for discharge.Nursing AssessmentVital signs monitoring: Regularly monitor vital signs, including blood pressure, heart rate, respiratory rate, and temperature, to detect early signs of complications such as bleeding and infection.Circulation assessment: Monitor pulses, perform Doppler assessments, and check capillary refill, color, temperature, and...
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Related Experiment Video

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Implantation and Control of Wireless, Battery-free Systems for Peripheral Nerve Interfacing
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Orphan Peripheral Neuropathies.

Josef Finsterer1, Wolfgang N Löscher2, Julia Wanschitz2

  • 1Klinik Landstrasse, Messerli Institute, Vienna, Austria.

Journal of Neuromuscular Diseases
|September 28, 2020
PubMed
Summary

Orphan neuropathies, though rare, represent the majority of nerve conditions. Identifying and treating these rare diseases is crucial for understanding their causes and improving patient outcomes.

Keywords:
Neuropathyhereditarymotornerve conduction velocityorphan diseasesperipheral nervessensory

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Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Peripheral neuropathies affect 2-3% of the population, commonly caused by alcoholism, diabetes, and toxins.
  • The majority of neuropathies are classified as rare or 'orphan diseases' due to low prevalence.
  • Defining rare diseases varies, with US criteria <1:200,000 and European criteria <5:10,000.

Purpose of the Study:

  • To review the etiology, frequency, diagnosis, and treatment of orphan neuropathies.
  • To highlight the significance of studying rare neuropathies despite their low individual prevalence.
  • To emphasize the potential for improved understanding and treatment through case reporting.

Main Methods:

  • Comprehensive literature review on orphan neuropathies.
  • Analysis of diagnostic criteria for rare diseases in the US and Europe.
  • Categorization of acquired and hereditary orphan neuropathies.

Main Results:

  • Most acquired and hereditary neuropathies meet the criteria for orphan diseases.
  • Newly identified causative variants are often reported in single patients or families (e.g., SEPT9, SORD).
  • Orphan neuropathies encompass complex hereditary disorders (mitochondrial, ataxia, spastic paraplegia, lysosomal storage) and acquired forms (metabolic, toxic, infectious, immune-mediated, neoplastic).

Conclusions:

  • Orphan neuropathies constitute the majority of all neuropathies.
  • Identifying and treating these rare conditions is important due to potential treatability and contribution to broader knowledge.
  • Accurate prevalence data requires comprehensive reporting of all diagnosed cases.