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Rare diseases --- Rare Diseases. --- Rare diseases. --- Rare disorders --- Uncommon diseases --- Diseases --- Orphan Diseases --- Disease, Orphan --- Disease, Rare --- Diseases, Orphan --- Diseases, Rare --- Orphan Disease --- Rare Disease --- Neglected Diseases --- Delayed Diagnosis
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cardiology --- cardiovascular diseases --- rare diseases --- Cardiovascular Diseases --- Rare Diseases --- Orphan Diseases --- Disease, Orphan --- Disease, Rare --- Diseases, Orphan --- Diseases, Rare --- Orphan Disease --- Rare Disease --- Neglected Diseases --- Cardiovascular Disease --- Disease, Cardiovascular --- Diseases, Cardiovascular --- Cardiology --- Cardiovascular Diseases. --- Rare Diseases. --- Delayed Diagnosis --- Adverse Cardiac Event --- Cardiac Events --- Major Adverse Cardiac Events --- Adverse Cardiac Events --- Cardiac Event --- Cardiac Event, Adverse --- Cardiac Events, Adverse --- Event, Cardiac
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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.
Critical care medicine. --- Rare diseases. --- Intensive care --- Intensive medicine --- Medicine --- Emergency medicine --- Intensive care units --- Rare disorders --- Uncommon diseases --- Diseases --- Internal medicine. --- Anesthesiology. --- Intensive / Critical Care Medicine. --- Internal Medicine. --- Anaesthesiology --- Surgery --- Medicine, Internal --- Intensive Care Units. --- Critical Care --- Rare Diseases --- methods. --- Orphan Diseases --- Disease, Orphan --- Disease, Rare --- Orphan Disease --- Rare Disease --- Delayed Diagnosis --- Neglected Diseases --- Care Unit, Intensive --- Care Units, Intensive --- Intensive Care Unit --- Unit, Intensive Care --- Units, Intensive Care --- ICU Intensive Care Units
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Immunology. Immunopathology --- Infectious diseases. Communicable diseases --- Rare Diseases --- Orphan Drug Production --- Rare diseases --- Maladies rares --- Periodicals. --- Périodiques --- Rare Diseases. --- Orphan Drug Production. --- Rare diseases. --- Pharmacology. --- Rare disorders --- Uncommon diseases --- Drugs, Orphan --- Drug Production, Orphan --- Drug, Orphan --- Orphan Drug --- Orphan Drugs --- Production, Orphan Drug --- Orphan Diseases --- Disease, Orphan --- Disease, Rare --- Diseases, Orphan --- Diseases, Rare --- Orphan Disease --- Rare Disease --- rare diseases --- orphan drugs --- Diseases --- Neglected Diseases --- Human medicine --- Delayed Diagnosis --- besmettelijke ziekten --- Internal Medicine
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Neoplasms. --- Rare Diseases. --- Rare diseases --- Tumors --- Maladies rares --- Tumeurs --- Periodicals. --- Périodiques --- Rare diseases. --- Tumors. --- cancer --- Orphan Diseases --- Disease, Orphan --- Disease, Rare --- Diseases, Orphan --- Diseases, Rare --- Orphan Disease --- Rare Disease --- Neglected Diseases --- Neoplasms --- Tumours --- Pathology --- Cysts (Pathology) --- Oncology --- Rare disorders --- Uncommon diseases --- Diseases --- Benign Neoplasms --- Malignancy --- Malignant Neoplasms --- Neoplasia --- Neoplasm --- Neoplasms, Benign --- Cancer --- Benign Neoplasm --- Cancers --- Malignancies --- Malignant Neoplasm --- Neoplasias --- Neoplasm, Benign --- Neoplasm, Malignant --- Neoplasms, Malignant --- Tumor --- Medical Oncology --- rare cancers --- haematological malignancies --- rare tumours --- Oncology. Neoplasms --- Delayed Diagnosis --- tumoren
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Rare diseases --- Chronic Disease. --- Neglected Diseases. --- Orphan Drug Production. --- Rare Diseases. --- Rare diseases. --- Rare disorders --- Uncommon diseases --- Orphan Diseases --- Disease, Orphan --- Disease, Rare --- Diseases, Orphan --- Diseases, Rare --- Orphan Disease --- Rare Disease --- Drugs, Orphan --- Drug Production, Orphan --- Drug, Orphan --- Orphan Drug --- Orphan Drugs --- Production, Orphan Drug --- Disease, Neglected --- Diseases, Neglected --- Neglected Disease --- Chronically Ill --- Chronic Illness --- Chronic Diseases --- Chronic Illnesses --- Disease, Chronic --- Diseases, Chronic --- Illness, Chronic --- Illnesses, Chronic --- Diseases --- Neglected Diseases --- Rare Diseases --- Pain Management --- Orphan Drug Production --- Chronic Disease --- Delayed Diagnosis
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Rare Diseases. --- Neoplasms. --- Child. --- Adolescent. --- Adolescents --- Adolescents, Female --- Adolescents, Male --- Teenagers --- Teens --- Adolescence --- Youth --- Adolescent, Female --- Adolescent, Male --- Female Adolescent --- Female Adolescents --- Male Adolescent --- Male Adolescents --- Teen --- Teenager --- Youths --- Minors --- Children --- Benign Neoplasms --- Malignancy --- Malignant Neoplasms --- Neoplasia --- Neoplasm --- Neoplasms, Benign --- Cancer --- Tumors --- Benign Neoplasm --- Cancers --- Malignancies --- Malignant Neoplasm --- Neoplasias --- Neoplasm, Benign --- Neoplasm, Malignant --- Neoplasms, Malignant --- Tumor --- Medical Oncology --- Orphan Diseases --- Disease, Orphan --- Disease, Rare --- Orphan Disease --- Rare Disease --- Delayed Diagnosis --- Neglected Diseases --- Tumors in adolescence. --- Diseases
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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
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 --- n/a
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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
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
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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
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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