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Periodical
Rare diseases.
ISSN: 21675511 Year: 2013 Publisher: Austin, Tex. : Landes Bioscience, Taylor & Francis

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Periodical
Journal of rare cardiovascular diseases.
Author:
ISSN: 22993711 23005505 Year: 2012 Publisher: Kraków, Poland : Published on behalf of Fundacja Dla Serca w Krakowie by: SoftQ sp. z o.o.,


Book
Uncommon Diseases in the ICU
Authors: --- ---
ISBN: 3319045768 331904575X Year: 2014 Publisher: Cham : Springer International Publishing : Imprint: Springer,

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This book highlights the practical characteristics of uncommon diseases and presents the most relevant features for the management of intensive care units. It does not aim to provide an exhaustive description of uncommon diseases, focusing instead on the major diseases that intensivists may encounter in their clinical practice. After a brief introduction on the epidemiology and pathophysiology of each disease, the authors emphasize the aspects related to diagnosis and treatment, providing concise and pragmatic guidance for residents and intensivists who care for patients with uncommon diseases. Although by definition uncommon diseases have a low prevalence in the general population, they can affect a large number of patients admitted to intensive care units, as they can often be diagnosed at intensive care units. Indeed, often a complication of the disease is what leads to the patient’s being admitted to an intensive care unit.


Book
Rare Tumors in Children and Adolescents
Authors: --- --- --- ---
ISBN: 9783030920715 Year: 2022 Publisher: Cham Springer International Publishing :Imprint: Springer


Book
Rare Respiratory Diseases: A Personal and a Public Health Problem
Author:
Year: 2022 Publisher: Basel MDPI - Multidisciplinary Digital Publishing Institute

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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


Book
Rare Respiratory Diseases: A Personal and a Public Health Problem
Author:
Year: 2022 Publisher: Basel MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

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


Book
Rare Respiratory Diseases: A Personal and a Public Health Problem
Author:
Year: 2022 Publisher: Basel MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

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

Keywords

Medicine --- Pharmacology --- 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 --- 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

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