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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 electronic resource (156 p.) |
| Soggetto topico |
Medicine
Neurosciences |
| Soggetto non controllato |
GLUT3
cerebral ischemia MCAO resveratrol astrocytes AMPK amyotrophic lateral sclerosis GSK3β neurodegenerative disease PD Arylsulfatase A lysosomes GWAS Gaucher's disease prognostic biomarker focused ultrasound MR-guided focused ultrasound high-intensity focused ultrasound ablation magnetic resonance imaging image quality stereotaxic techniques essential tremor Alzheimer's disease amyloid precursor protein Tyr682 residue YENPTY motif Fyn tyrosine kinase amyloid beta ALS biomarker beta amyloid AD biomarkers SARS-CoV-2 neuroinflammation neurodegenerative nisease nervous system Alzheimer's Disease Vitamin D 25(OH)D levels Vitamin D deficiency inherited neuromuscular disorders rare diseases multiple sclerosis genetic polymorphisms FOXP3 GATA3 vitamin D neuromelanin nigrosome-1 iron radiomics neurodegenerative diseases Parkinson's disease parkinsonian disorders |
| 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 electronic resource (144 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
retina
inherited retinal diseases syndrome Turner syndrome mosaicism ring chromosomes growth hormone deficiency pituitary microadenoma clinical genetics early onset ataxia dystonia neurodevelopment network analysis bioinformatics ataxia phenotype child NGS next generation sequencing inborn errors of metabolism lysosomal disorders neuromuscular disease genetic testing whole exome sequencing Prader-Willi syndrome imprinting disorder recombinant human growth hormone insulin-like growth factor 1 HMGLD HMGCL HMG-CoA lyase deficiency inherited metabolic diseases familial hearing loss multiple diagnoses non-syndromic hearing loss ACTG1 MYH9 genetic counselling rare diseases professional recognition hearing loss genetic diagnosis SLC26A4 DFNB4 Tuvinians Altaians Southern Siberia Russia GSDME DFNA5 single-exon CNV |
| 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 electronic resource (228 p.) |
| Soggetto topico | Research & information: general |
| Soggetto non controllato |
hereditary hemorrhagic telangiectasia
rare diseases telangiectasis transforming growth factor-beta (TGF-β) Smad pathway gastrointestinal bleeding epistaxis nosebleeds tacrolimus nasal ointment genetic disease rare disease hereditary hemorrhagic telangiectasia (HHT) telangiectases mechanical damage sun-induced trauma vascular malformations Endoglin activin-receptor-like kinase 1 Hereditary Hemorrhagic Telangiectasia antithrombotic therapy anticoagulants antiplatelets bleeding safety HHT ALK1 endoglin raloxifene bazedoxifene tranexamic acid propranolol FK506 etamsylate N-acetylcysteine pulmonary arteriovenous malformations transcatheter embolotherapy screening guidelines Hereditary hemorrhagic telangiectasia pediatrics genotype–phenotype correlation arteriovenous malformation ENG ACVRL1 SMAD4 microRNA biomarker plasma arteriovenous malformations (AVMs) angiogenesis activin receptor-like kinase 1 (ALK1) transforming growth factor beta (TGF-β) bone morphogenetic protein (BMP) propranolol gel epistaxis severity score nasal endoscopy antiangiogenic properties non-coding RNAs microRNAs long non-coding RNAs biomarkers endothelial cells hereditary hemorrhagic telangiectasia (HHT), second-hit arteriovenous malformation (AVM) Smad4 inflammation shear stress vascular injury somatic mutation cell adhesion vascular endothelial growth factor (VEGF) telangiectasia hereditary hemorrhagic survival life expectancy pulmonary arteriovenous malformation contrast enhanced magnetic resonance angiography liver MRI ultrasound AVM bevacizumab Osler–Weber–Rendu hereditary hemorrhagic telangiectasia/HHT/osler’s disease cerebral ischemic lesions catheter based embolization therapy |
| 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 electronic resource (204 p.) |
| Soggetto topico | Psychology |
| Soggetto non controllato |
cancer
childhood cancer adaptation psychological neoplasm oncology sibling social support social adjustment palliative care end-of-life care equity public health approach compassionate communities caregiving parents psychosocial support rare disease advance care planning decision-making family caregiver psychosocial care communication pediatric adolescents and young adults healthcare needs chronic illness AYA transition Beckwith-Wiedemann syndrome emotional-behavioral problems psychosocial difficulties psychomotor development preschool-age children pediatric chronic illness rare diseases family caregivers gender differences genetic or rare diseases health outcomes illness perception parenting stress siblings bereavement emotions psychosocial distress pediatrics complex chronic conditions pediatric to adult transition special needs interventions care coordination transition readiness family burden parental need urea cycle disorders E-IMD inherited metabolic diseases medullary thyroid carcinoma psychosocial young adults life-limiting conditions adolescents age-appropriate development cognitive functions children families medical complexity policy advocacy |
| 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 electronic resource (242 p.) |
| Soggetto topico |
Medicine
Pharmacology |
| Soggetto non controllato |
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 |
| 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 electronic resource (192 p.) |
| Soggetto topico | Medical equipment & techniques |
| Soggetto non controllato |
COVID-19
medical devices mHealth electronic surveys digital health digital divide telehealth telemedicine NLP healthcare professionals public health vaccines social media opioid use disorder treatment telehealth services qualitative needs assessment SARS-CoV2 mobile technology heuristic evaluation usability Saudi Arabia SARS-CoV-2 frail people rare diseases remote assistance remote rehabilitation survey technology eHealth telemonitoring telerehabilitation mobile health app digital content value chain infodemic pandemic infodemiology infoveillance Mawid app COVID-19 pandemic mobile application primary healthcare centers Al Hassa post-lockdown sedentary behavior physical activity food choice positive emotions desire to eat adult smartphone |
| 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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