Rare Respiratory Diseases: A Personal and a Public Health Problem

Dear Colleagues, A rare disease, also known as an orphan disease, is any disease that affects a small percentage of the population. Although definitions vary from continent to continent, according to the European Union, rare diseases are those with a prevalence of less than 1 in 2000 people. Rare di...

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collection Directory of Open Access Books
description Dear Colleagues, A rare disease, also known as an orphan disease, is any disease that affects a small percentage of the population. Although definitions vary from continent to continent, according to the European Union, rare diseases are those with a prevalence of less than 1 in 2000 people. Rare diseases are, in general, chronic, debilitating diseases, which in many cases threaten patients’ lives. It is estimated that 1–2 million people in the European Union are affected by a rare respiratory disease, which is a public health problem. Due to the low prevalence and severity of many of these diseases, whose symptoms often initially manifest in childhood, combined efforts are needed to improve our knowledge of the pathophysiology of these diseases that will lead to the development of new, more effective treatments. Therefore, since rare respiratory diseases represent an important field in medicine, we propose this Special Issue to promote the dissemination of the latest advances in basic and clinical research in these diseases. Prof. Dr. Francisco Dasí Guest Editor
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publisherStr MDPI - Multidisciplinary Digital Publishing Institute
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spelling doab-20.500.12854ir-812302024-03-31T13:08:13Z Rare Respiratory Diseases: A Personal and a Public Health Problem Dasí, Francisco standard diagnosis reference centres clinical presentation cilia primary ciliary dyskinesia alpha-1 antitrypsin deficiency rare respiratory diseases Mycobacterium avium Mycobacterium intracellulare nodular bronchiectasis non-tuberculous mycobacteria pulmonary aspergillosis rare pulmonary disease miRNA expression exhaled breath condensate sputum severity pulmonary exacerbation alpha1 antitrypsin deficiency augmentation therapy replacement therapy rare diseases gene therapy alpha-1-antitrypsin deficit cystic fibrosis neonatal respiratory distress laterality defect orphan diseases PCD immunofluorescence antibody ALI culture bio-resource primary nasal epithelium diagnostics Alpha-1 antitrypsin deficiency liver disease glutamate-oxaloacetate transaminase glutamate-pyruvate transaminase gamma-glutamyl transpeptidase resilience active lifestyle stress levels infection control measure self-quarantine flow cytometry nasal epithelium oxidative stress reactive oxygen species endoplasmic reticulum stress antioxidant therapies idiopathic pulmonary fibrosis chronic obstructive pulmonary disease bronchiectasis asthma emphysema alpha1-antitrypsin deficiency transient elastography n/a thema EDItEUR::M Medicine and Nursing thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology Dear Colleagues, A rare disease, also known as an orphan disease, is any disease that affects a small percentage of the population. Although definitions vary from continent to continent, according to the European Union, rare diseases are those with a prevalence of less than 1 in 2000 people. Rare diseases are, in general, chronic, debilitating diseases, which in many cases threaten patients’ lives. It is estimated that 1–2 million people in the European Union are affected by a rare respiratory disease, which is a public health problem. Due to the low prevalence and severity of many of these diseases, whose symptoms often initially manifest in childhood, combined efforts are needed to improve our knowledge of the pathophysiology of these diseases that will lead to the development of new, more effective treatments. Therefore, since rare respiratory diseases represent an important field in medicine, we propose this Special Issue to promote the dissemination of the latest advances in basic and clinical research in these diseases. Prof. Dr. Francisco Dasí Guest Editor 2022-05-06T11:36:53Z 2022-05-06T11:36:53Z 2022 book ONIX_20220506_9783036536699_296 9783036536699 9783036536705 https://directory.doabooks.org/handle/20.500.12854/81230 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/5262 https://mdpi.com/books/pdfview/book/5262 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-3670-5 10.3390/books978-3-0365-3670-5 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036536699 9783036536705 242 Basel open access
spellingShingle standard diagnosis
reference centres
clinical presentation
cilia
primary ciliary dyskinesia
alpha-1 antitrypsin deficiency
rare respiratory diseases
Mycobacterium avium
Mycobacterium intracellulare
nodular bronchiectasis
non-tuberculous mycobacteria
pulmonary aspergillosis
rare pulmonary disease
miRNA expression
exhaled breath condensate
sputum
severity
pulmonary exacerbation
alpha1 antitrypsin deficiency
augmentation therapy
replacement therapy
rare diseases
gene therapy
alpha-1-antitrypsin deficit
cystic fibrosis
neonatal respiratory distress
laterality defect
orphan diseases
PCD
immunofluorescence
antibody
ALI culture
bio-resource
primary nasal epithelium
diagnostics
Alpha-1 antitrypsin deficiency
liver disease
glutamate-oxaloacetate transaminase
glutamate-pyruvate transaminase
gamma-glutamyl transpeptidase
resilience
active lifestyle
stress levels
infection control measure
self-quarantine
flow cytometry
nasal epithelium
oxidative stress
reactive oxygen species
endoplasmic reticulum stress
antioxidant therapies
idiopathic pulmonary fibrosis
chronic obstructive pulmonary disease
bronchiectasis
asthma
emphysema
alpha1-antitrypsin deficiency
transient elastography
n/a
thema EDItEUR::M Medicine and Nursing
thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology
Rare Respiratory Diseases: A Personal and a Public Health Problem
title Rare Respiratory Diseases: A Personal and a Public Health Problem
title_full Rare Respiratory Diseases: A Personal and a Public Health Problem
title_fullStr Rare Respiratory Diseases: A Personal and a Public Health Problem
title_full_unstemmed Rare Respiratory Diseases: A Personal and a Public Health Problem
title_short Rare Respiratory Diseases: A Personal and a Public Health Problem
title_sort rare respiratory diseases a personal and a public health problem
topic standard diagnosis
reference centres
clinical presentation
cilia
primary ciliary dyskinesia
alpha-1 antitrypsin deficiency
rare respiratory diseases
Mycobacterium avium
Mycobacterium intracellulare
nodular bronchiectasis
non-tuberculous mycobacteria
pulmonary aspergillosis
rare pulmonary disease
miRNA expression
exhaled breath condensate
sputum
severity
pulmonary exacerbation
alpha1 antitrypsin deficiency
augmentation therapy
replacement therapy
rare diseases
gene therapy
alpha-1-antitrypsin deficit
cystic fibrosis
neonatal respiratory distress
laterality defect
orphan diseases
PCD
immunofluorescence
antibody
ALI culture
bio-resource
primary nasal epithelium
diagnostics
Alpha-1 antitrypsin deficiency
liver disease
glutamate-oxaloacetate transaminase
glutamate-pyruvate transaminase
gamma-glutamyl transpeptidase
resilience
active lifestyle
stress levels
infection control measure
self-quarantine
flow cytometry
nasal epithelium
oxidative stress
reactive oxygen species
endoplasmic reticulum stress
antioxidant therapies
idiopathic pulmonary fibrosis
chronic obstructive pulmonary disease
bronchiectasis
asthma
emphysema
alpha1-antitrypsin deficiency
transient elastography
n/a
thema EDItEUR::M Medicine and Nursing
thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology
topic_facet standard diagnosis
reference centres
clinical presentation
cilia
primary ciliary dyskinesia
alpha-1 antitrypsin deficiency
rare respiratory diseases
Mycobacterium avium
Mycobacterium intracellulare
nodular bronchiectasis
non-tuberculous mycobacteria
pulmonary aspergillosis
rare pulmonary disease
miRNA expression
exhaled breath condensate
sputum
severity
pulmonary exacerbation
alpha1 antitrypsin deficiency
augmentation therapy
replacement therapy
rare diseases
gene therapy
alpha-1-antitrypsin deficit
cystic fibrosis
neonatal respiratory distress
laterality defect
orphan diseases
PCD
immunofluorescence
antibody
ALI culture
bio-resource
primary nasal epithelium
diagnostics
Alpha-1 antitrypsin deficiency
liver disease
glutamate-oxaloacetate transaminase
glutamate-pyruvate transaminase
gamma-glutamyl transpeptidase
resilience
active lifestyle
stress levels
infection control measure
self-quarantine
flow cytometry
nasal epithelium
oxidative stress
reactive oxygen species
endoplasmic reticulum stress
antioxidant therapies
idiopathic pulmonary fibrosis
chronic obstructive pulmonary disease
bronchiectasis
asthma
emphysema
alpha1-antitrypsin deficiency
transient elastography
n/a
thema EDItEUR::M Medicine and Nursing
thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology
url ONIX_20220506_9783036536699_296