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Biochemical Biomarkers and Neurodegenerative Diseases
| Biochemical Biomarkers and Neurodegenerative Diseases |
| Autore | Ciaccio Marcello |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 online resource (156 p.) |
| Soggetto topico |
Medicine and Nursing
Neurosciences |
| Soggetto non controllato |
25(OH)D levels
AD ALS Alzheimer's disease Alzheimer's Disease AMPK amyloid beta amyloid precursor protein amyotrophic lateral sclerosis Arylsulfatase A astrocytes beta amyloid biomarker biomarkers cerebral ischemia essential tremor focused ultrasound FOXP3 Fyn tyrosine kinase GATA3 Gaucher's disease genetic GLUT3 GSK3β GWAS high-intensity focused ultrasound ablation image quality inherited neuromuscular disorders iron lysosomes magnetic resonance imaging MCAO MR-guided focused ultrasound multiple sclerosis n/a nervous system neurodegenerative disease neurodegenerative diseases neurodegenerative nisease neuroinflammation neuromelanin nigrosome-1 Parkinson's disease parkinsonian disorders PD polymorphisms prognostic biomarker radiomics rare diseases resveratrol SARS-CoV-2 stereotaxic techniques Tyr682 residue vitamin D Vitamin D Vitamin D deficiency YENPTY motif |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557361103321 |
Ciaccio Marcello
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Genetic Testing for Rare Diseases
| Genetic Testing for Rare Diseases |
| Autore | Millán José |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (144 p.) |
| Soggetto topico | Medicine and Nursing |
| Soggetto non controllato |
ACTG1
Altaians ataxia bioinformatics child clinical genetics DFNA5 DFNB4 dystonia early onset ataxia familial hearing loss genetic counselling genetic diagnosis genetic testing growth hormone deficiency GSDME hearing loss HMG-CoA lyase deficiency HMGCL HMGLD imprinting disorder inborn errors of metabolism inherited metabolic diseases inherited retinal diseases insulin-like growth factor 1 lysosomal disorders mosaicism multiple diagnoses MYH9 n/a network analysis neurodevelopment neuromuscular disease next generation sequencing NGS non-syndromic hearing loss phenotype pituitary microadenoma Prader-Willi syndrome professional recognition rare diseases recombinant human growth hormone retina ring chromosomes Russia single-exon CNV SLC26A4 Southern Siberia syndrome Turner syndrome Tuvinians whole exome sequencing |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566479203321 |
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Millán José
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Hereditary Hemorrhagic Telangiectasia : Recent Advances and Future Challenges
| Hereditary Hemorrhagic Telangiectasia : Recent Advances and Future Challenges |
| Autore | Mager Hans-Jurgen |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 online resource (228 p.) |
| Soggetto topico | Research and information: general |
| Soggetto non controllato |
activin receptor-like kinase 1 (ALK1)
activin-receptor-like kinase 1 ACVRL1 ALK1 angiogenesis antiangiogenic properties anticoagulants antiplatelets antithrombotic therapy arteriovenous malformation arteriovenous malformation (AVM) arteriovenous malformations (AVMs) AVM bazedoxifene bevacizumab biomarker biomarkers bleeding bone morphogenetic protein (BMP) catheter based embolization therapy cell adhesion cerebral ischemic lesions contrast enhanced magnetic resonance angiography endoglin Endoglin endothelial cells ENG epistaxis epistaxis severity score etamsylate FK506 gastrointestinal bleeding genetic disease genotype-phenotype correlation guidelines hereditary hemorrhagic hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia Hereditary Hemorrhagic Telangiectasia hereditary hemorrhagic telangiectasia (HHT) hereditary hemorrhagic telangiectasia (HHT), second-hit hereditary hemorrhagic telangiectasia/HHT/osler's disease HHT inflammation life expectancy liver long non-coding RNAs mechanical damage microRNA microRNAs MRI N-acetylcysteine nasal endoscopy nasal ointment non-coding RNAs nosebleeds Osler-Weber-Rendu pediatrics plasma propranolol propranolol gel pulmonary arteriovenous malformation pulmonary arteriovenous malformations raloxifene rare disease rare diseases safety screening shear stress Smad pathway Smad4 SMAD4 somatic mutation sun-induced trauma survival tacrolimus telangiectases telangiectasia telangiectasis tranexamic acid transcatheter embolotherapy transforming growth factor beta (TGF-β) transforming growth factor-beta (TGF-β) ultrasound vascular endothelial growth factor (VEGF) vascular injury vascular malformations |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Hereditary Hemorrhagic Telangiectasia |
| Record Nr. | UNINA-9910557578003321 |
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Mager Hans-Jurgen
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Psychosocial Considerations for Children and Adolescents Living with Rare Diseases
| Psychosocial Considerations for Children and Adolescents Living with Rare Diseases |
| Autore | Wiener Lori |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (204 p.) |
| Soggetto topico | Psychology |
| Soggetto non controllato |
adaptation
adolescents adolescents and young adults advance care planning advocacy age-appropriate AYA transition Beckwith-Wiedemann syndrome bereavement cancer care coordination caregiving childhood cancer children chronic illness cognitive functions communication compassionate communities complex chronic conditions decision-making development E-IMD emotional-behavioral problems emotions end-of-life care equity families family burden family caregiver family caregivers gender differences genetic or rare diseases health outcomes healthcare needs illness perception inherited metabolic diseases interventions life-limiting conditions medical complexity medullary thyroid carcinoma n/a neoplasm oncology palliative care parental need parenting stress parents pediatric pediatric chronic illness pediatric to adult transition pediatrics policy preschool-age children psychological psychomotor development psychosocial psychosocial care psychosocial difficulties psychosocial distress psychosocial support public health approach rare disease rare diseases sibling siblings social adjustment social support special needs transition readiness urea cycle disorders young adults |
| ISBN | 3-0365-5090-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910619466903321 |
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Wiener Lori
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| MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Rare Respiratory Diseases: A Personal and a Public Health Problem
| Rare Respiratory Diseases: A Personal and a Public Health Problem |
| Autore | Dasí Francisco |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (242 p.) |
| Soggetto topico |
Medicine and Nursing
Pharmacology |
| Soggetto non controllato |
active lifestyle
ALI culture alpha-1 antitrypsin deficiency Alpha-1 antitrypsin deficiency alpha-1-antitrypsin deficit alpha1 antitrypsin deficiency alpha1-antitrypsin deficiency antibody antioxidant therapies asthma augmentation therapy bio-resource bronchiectasis chronic obstructive pulmonary disease cilia clinical presentation cystic fibrosis diagnostics emphysema endoplasmic reticulum stress exhaled breath condensate flow cytometry gamma-glutamyl transpeptidase gene therapy glutamate-oxaloacetate transaminase glutamate-pyruvate transaminase idiopathic pulmonary fibrosis immunofluorescence infection control measure laterality defect liver disease miRNA expression Mycobacterium avium Mycobacterium intracellulare n/a nasal epithelium neonatal respiratory distress nodular bronchiectasis non-tuberculous mycobacteria orphan diseases oxidative stress PCD primary ciliary dyskinesia primary nasal epithelium pulmonary aspergillosis pulmonary exacerbation rare diseases rare pulmonary disease rare respiratory diseases reactive oxygen species reference centres replacement therapy resilience self-quarantine severity sputum standard diagnosis stress levels transient elastography |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Rare Respiratory Diseases |
| Record Nr. | UNINA-9910566479403321 |
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Dasí Francisco
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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The Impact of Mobile Technology in the Battle against COVID-19 : Successes and Failures
| The Impact of Mobile Technology in the Battle against COVID-19 : Successes and Failures |
| Autore | Giansanti Daniele |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (192 p.) |
| Soggetto topico | Medical equipment and techniques |
| Soggetto non controllato |
adult
Al Hassa COVID-19 COVID-19 pandemic desire to eat digital content value chain digital divide digital health eHealth electronic surveys food choice frail people healthcare professionals heuristic evaluation infodemic infodemiology infoveillance Mawid app medical devices mHealth mobile application mobile health app mobile technology n/a needs assessment NLP opioid use disorder treatment pandemic physical activity positive emotions post-lockdown primary healthcare centers public health qualitative rare diseases remote assistance remote rehabilitation SARS-CoV-2 SARS-CoV2 Saudi Arabia sedentary behavior smartphone social media survey technology telehealth telehealth services telemedicine telemonitoring telerehabilitation usability vaccines |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Impact of Mobile Technology in the Battle against COVID-19 |
| Record Nr. | UNINA-9910585945203321 |
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Giansanti Daniele
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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